##fileformat=VCFv4.2 ##FILTER= ##FILTER= ##FILTER= 60.0 || MQ < 40.0 || HaplotypeScore > 13.0 || MappingQualityRankSum < -12.5 || ReadPosRankSum < -8.0"> ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##reference=file:///PUBLIC/source/HW/Disease/database/genome/human/hg38/bwa_index_whole/hg38.fa ##source=HaplotypeCaller ##source=SelectVariants ##source=VariantFiltration ##bcftools_normVersion=1.0+htslib-1.0 ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##contig= 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##liftOverProgram=CrossMap(https://sourceforge.net/projects/crossmap/) ##liftOverFile=/net/isilonP/public/ro/ensweb-data/latest/tools/www/e100/assembly_converter/homo_sapiens/GRCh38_to_GRCh37.chain.gz ##new_reference_genome=/net/isilonP/public/ro/ensweb-data/latest/tools/www/e100/assembly_converter/homo_sapiens/Homo_sapiens.GRCh37.dna.toplevel.fa ##liftOverTime=May09,2020 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S56001810271123 1 17365 rs369606208 C G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.35;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.8;MQRankSum=2.044;QD=7.71;ReadPosRankSum=-0.255;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWASH7P;Func=ncRNA_exonic;Gene=NR_024540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.993729\x3bName\x3echr9:10843;Repeat=.;avsnp150=rs369606208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2553;ExAC_AFR=0.1603;ExAC_AMR=0.2210;ExAC_EAS=0.3841;ExAC_FIN=0.2245;ExAC_NFE=0.2715;ExAC_OTH=0.2581;ExAC_SAS=0.2883;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,9:25:99:221,0,447 1 17614 rs201057270 G A 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.507;DP=29;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=40.69;MQRankSum=0.355;QD=10.06;ReadPosRankSum=0.975;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWASH7P;Func=ncRNA_exonic;Gene=NR_024540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.993729\x3bName\x3echr9:10843;Repeat=.;avsnp150=rs201057270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,12:29:99:320,0,483 1 69511 rs2691305 A G 2240.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.53;QD=29.88;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR4F5;Func=exonic;Gene=NM_001005484;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR4F5:NM_001005484:exon1:c.A421G:p.T141A;Gencode=Name\x3eENST00000335137.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.994828\x3bName\x3echr19:60000;Repeat=.;avsnp150=rs2691305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.7598;ExAC_ALL=0.9394;ExAC_AFR=0.5942;ExAC_AMR=0.9507;ExAC_EAS=0.9994;ExAC_FIN=0.9907;ExAC_NFE=0.9716;ExAC_OTH=0.9597;ExAC_SAS=0.9832;SIFT_score=0.652;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.855;MutationAssessor_pred=N;FATHMM_score=1.26;FATHMM_pred=T;phyloP100way_vertebrate=-0.684;phyloP20way_mammalian=-0.132;SiPhy_29way_logOdds=4.198;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2269,225,0 1 234378 rs200864529 A G 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=19;ExcessHet=3.0103;FS=1.83;MLEAC=1;MLEAF=0.5;MQ=46.89;MQRankSum=0.244;QD=20.09;ReadPosRankSum=0.085;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026823,NM_001005221;GeneDetail=dist\x3e58030\x3bdist\x3e186113;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448958.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.992138\x3bName\x3echr16:90185518;Repeat=.;avsnp150=rs200864529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:410,0,167 1 234481 rs8179403 T A 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.799;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=49.26;MQRankSum=-2.193;QD=19.65;ReadPosRankSum=0.327;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026823,NM_001005221;GeneDetail=dist\x3e58133\x3bdist\x3e186010;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448958.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.992138\x3bName\x3echr16:90185518;Repeat=.;avsnp150=rs8179403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:264,0,131 1 234609 rs201234721 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026823,NM_001005221;GeneDetail=dist\x3e58261\x3bdist\x3e185882;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448958.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.992138\x3bName\x3echr16:90185518;Repeat=Score\x3e34\x3bName\x3e"387:(CTAACC)n(Simple_repeat)";avsnp150=rs201234721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 752566 rs3094315 G A 141.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.36;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_103536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.989017\x3bName\x3echr2:242107433;Repeat=Score\x3e4015\x3bName\x3e"1347:L1P4(LINE)";avsnp150=rs3094315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.84;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.804;1000g2015aug_all=0.718251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 1 752721 rs3131972 A G 987.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_103536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3131972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.839;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.7363;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1016,84,0 1 762273 rs3115849 G A 2447.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.28;QD=30.6;SOR=1.031;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00115;Func=ncRNA_exonic;Gene=NR_024321;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473798.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.985207\x3bName\x3echr8:230496;Repeat=.;avsnp150=rs3115849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.8112;1000g2015aug_all=0.731829;esp6500siv2_all=.;ExAC_ALL=0.8060;ExAC_AFR=0.4415;ExAC_AMR=0.8116;ExAC_EAS=0.9174;ExAC_FIN=0.9;ExAC_NFE=0.8384;ExAC_OTH=0.8896;ExAC_SAS=0.8184;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2476,239,0 1 762589 rs3115848 G C 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.31;QD=28.2;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00115;Func=ncRNA_exonic;Gene=NR_024321;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473798.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.985207\x3bName\x3echr8:230496;Repeat=.;avsnp150=rs3115848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.8156;1000g2015aug_all=0.751597;esp6500siv2_all=.;ExAC_ALL=0.7773;ExAC_AFR=0.4751;ExAC_AMR=0.8416;ExAC_EAS=0.8989;ExAC_FIN=0.825;ExAC_NFE=0.8350;ExAC_OTH=0.9444;ExAC_SAS=0.8103;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 762592 rs3131950 C G 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.31;QD=25;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00115;Func=ncRNA_exonic;Gene=NR_024321;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473798.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.985207\x3bName\x3echr8:230496;Repeat=.;avsnp150=rs3131950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.8156;1000g2015aug_all=0.751597;esp6500siv2_all=.;ExAC_ALL=0.7761;ExAC_AFR=0.4736;ExAC_AMR=0.8384;ExAC_EAS=0.8978;ExAC_FIN=0.8333;ExAC_NFE=0.8350;ExAC_OTH=0.9444;ExAC_SAS=0.8101;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 762601 rs3131949 T C 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.38;QD=29.56;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00115;Func=ncRNA_exonic;Gene=NR_024321;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473798.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.985207\x3bName\x3echr8:230496;Repeat=.;avsnp150=rs3131949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.8156;1000g2015aug_all=0.751597;esp6500siv2_all=.;ExAC_ALL=0.7756;ExAC_AFR=0.4721;ExAC_AMR=0.8454;ExAC_EAS=0.8955;ExAC_FIN=0.8824;ExAC_NFE=0.8346;ExAC_OTH=0.9444;ExAC_SAS=0.8365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 762632 rs3131948 T A 170.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.56;QD=34.18;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00115;Func=ncRNA_exonic;Gene=NR_024321;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473798.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.985207\x3bName\x3echr8:230496;Repeat=.;avsnp150=rs3131948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.817;1000g2015aug_all=0.751997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:199,15,0 1 770075 rs2977606 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_intronic;Gene=NR_047519,NR_047521,NR_047523,NR_047524,NR_047525,NR_047526;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415295.1,ENST00000449005.5,ENST00000609139.5,ENST00000608189.4,ENST00000445118.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=.;avsnp150=rs2977606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9914;1000g2015aug_all=0.979633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 777122 rs2980319 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_exonic;Gene=NR_047526;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445118.6,ENST00000609139.5,ENST00000415295.1,ENST00000449005.5,ENST00000608189.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=Score\x3e453\x3bName\x3e"1383:MIRb(SINE)";avsnp150=rs2980319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.8343;1000g2015aug_all=0.747204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 783304 rs2980295 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_intronic;Gene=NR_047519,NR_047521,NR_047523,NR_047524,NR_047525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445118.6,ENST00000608189.4,ENST00000449005.5,ENST00000609139.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=.;avsnp150=rs2980295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.9914;1000g2015aug_all=0.979433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 792246 . A G 31.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.1;DP=8;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=44.31;MQRankSum=0.619;QD=3.97;ReadPosRankSum=2.1;SOR=0.02;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_exonic;Gene=NR_047519,NR_047521,NR_047523,NR_047524,NR_047525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445118.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:60:60,0,313 1 792263 rs1044922 A G 482.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.34;QD=34.48;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_exonic;Gene=NR_047519,NR_047521,NR_047523,NR_047524,NR_047525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445118.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=.;avsnp150=rs1044922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.8703;1000g2015aug_all=0.785942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:511,42,0 1 792480 rs2905036 C T 1623.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.23;QD=30.64;SOR=1.077;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01128;Func=ncRNA_exonic;Gene=NR_047519,NR_047521,NR_047523,NR_047524,NR_047525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445118.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.97802\x3bName\x3echr8:290489;Repeat=.;avsnp150=rs2905036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9899;1000g2015aug_all=0.976837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1652,159,0 1 804115 rs9725068 G A 114.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.8;QD=22.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM41C;Func=ncRNA_intronic;Gene=NR_027055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446136.1,ENST00000432963.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.967222\x3bName\x3echr9:138238912,chr16:90123912;Repeat=.;avsnp150=rs9725068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.993;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.9236;1000g2015aug_all=0.915935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:143,15,0 1 808631 rs11240779 G A 273.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM41C;Func=ncRNA_intronic;Gene=NR_027055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446136.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.939439\x3bName\x3echr3:198119646;Repeat=.;avsnp150=rs11240779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.115;1000g2015aug_amr=0.6527;1000g2015aug_all=0.453474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:302,24,0 1 808922 rs6594027 G A 3090.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.42;QD=30.62;SOR=1.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM41C;Func=ncRNA_intronic;Gene=NR_027055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446136.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.939439\x3bName\x3echr3:198119646;Repeat=.;avsnp150=rs6594027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.9918;1000g2015aug_eur=1;1000g2015aug_afr=0.9554;1000g2015aug_amr=0.9942;1000g2015aug_all=0.982628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:3119,211,0 1 808928 rs11240780 C T 3090.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.42;QD=28.17;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM41C;Func=ncRNA_intronic;Gene=NR_027055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446136.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.939439\x3bName\x3echr3:198119646;Repeat=.;avsnp150=rs11240780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.6527;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:3119,211,0 1 843405 rs11516185 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027055,NR_026874;GeneDetail=dist\x3e31223\x3bdist\x3e8793;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000607769.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11516185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4206;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.3847;1000g2015aug_all=0.375399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 861630 rs2879816 G A 395.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618181.4,ENST00000618323.4,ENST00000616125.4,ENST00000616016.4,ENST00000620200.4,ENST00000622503.4,ENST00000617307.4,ENST00000342066.7,ENST00000618779.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2879816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.591;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.5937;1000g2015aug_all=0.505791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:424,33,0 1 866319 rs9988021 G A 818.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616016.4,ENST00000616125.4,ENST00000618323.4,ENST00000618181.4,ENST00000618779.4,ENST00000617307.4,ENST00000622503.4,ENST00000342066.7,ENST00000620200.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9988021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.9914;1000g2015aug_all=0.953474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:847,78,0 1 870903 rs13303094 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620200.4,ENST00000618779.4,ENST00000342066.7,ENST00000622503.4,ENST00000617307.4,ENST00000618181.4,ENST00000618323.4,ENST00000616125.4,ENST00000616016.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.987;1000g2015aug_all=0.947883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 871334 rs4072383 G T 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616125.4,ENST00000616016.4,ENST00000618181.4,ENST00000618323.4,ENST00000618779.4,ENST00000617307.4,ENST00000622503.4,ENST00000342066.7,ENST00000620200.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4072383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.5865;1000g2015aug_all=0.497804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 876499 rs4372192 A G 367.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618779.4,ENST00000617307.4,ENST00000622503.4,ENST00000342066.7,ENST00000620200.4,ENST00000616016.4,ENST00000616125.4,ENST00000618323.4,ENST00000618181.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4372192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9207;1000g2015aug_all=0.913139;esp6500siv2_all=0.9193;ExAC_ALL=0.9276;ExAC_AFR=0.8755;ExAC_AMR=0.9496;ExAC_EAS=0.9115;ExAC_FIN=0.9591;ExAC_NFE=0.9350;ExAC_OTH=0.9458;ExAC_SAS=0.9168;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:396,39,0 1 877715 rs6605066 C G 245.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=intronic;Gene=NM_152486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622503.4,ENST00000617307.4,ENST00000342066.7,ENST00000618779.4,ENST00000620200.4,ENST00000616016.4,ENST00000616125.4,ENST00000618323.4,ENST00000618181.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6605066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.9092;1000g2015aug_all=0.887979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:274,27,0 1 877831 rs6672356 T C 136.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.81;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11;Func=exonic;Gene=NM_152486;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SAMD11:NM_152486:exon10:c.T1027C:p.W343R;Gencode=Name\x3eENST00000616016.4,ENST00000616125.4,ENST00000618323.4,ENST00000618181.4,ENST00000622503.4,ENST00000617307.4,ENST00000342066.7,ENST00000618779.4,ENST00000620200.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=0.9999;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.1;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=1.367;phyloP20way_mammalian=-0.090;SiPhy_29way_logOdds=7.519;gerp++gt2=2.51;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:165,18,0 1 879676 rs6605067 G A 689.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD11,NOC2L;Func=UTR3;Gene=NM_015658,NM_152486;GeneDetail=NM_015658:c.*398C>T\x3bNM_152486:c.*143G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616125.4,ENST00000616016.4,ENST00000618181.4,ENST00000618323.4,ENST00000618779.4,ENST00000327044.6,ENST00000617307.4,ENST00000622503.4,ENST00000342066.7,ENST00000620200.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6605067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9473;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.9006;1000g2015aug_all=0.885982;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:718,54,0 1 879687 rs2839 T C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L,SAMD11;Func=UTR3;Gene=NM_015658,NM_152486;GeneDetail=NM_015658:c.*387A>G\x3bNM_152486:c.*154T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620200.4,ENST00000342066.7,ENST00000622503.4,ENST00000617307.4,ENST00000327044.6,ENST00000618779.4,ENST00000618181.4,ENST00000618323.4,ENST00000616125.4,ENST00000616016.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9193;1000g2015aug_all=0.921126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 880238 rs3748592 A G 614.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9193;1000g2015aug_all=0.920927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:643,57,0 1 881627 rs2272757 G A 856.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=exonic;Gene=NM_015658;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NOC2L:NM_015658:exon16:c.C1843T:p.L615L;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.438;1000g2015aug_all=0.441893;esp6500siv2_all=0.4748;ExAC_ALL=0.5653;ExAC_AFR=0.1397;ExAC_AMR=0.4840;ExAC_EAS=0.6560;ExAC_FIN=0.6221;ExAC_NFE=0.6283;ExAC_OTH=0.5737;ExAC_SAS=0.5648;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:885,72,0 1 883625 rs4970378 A G 1399.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9998;ExAC_ALL=0.9999;ExAC_AFR=0.9994;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1428,135,0 1 885689 rs4970452 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.966;1000g2015aug_amr=0.9222;1000g2015aug_all=0.938498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 885699 rs4970376 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9193;1000g2015aug_all=0.921925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 886006 rs4970375 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9193;1000g2015aug_all=0.922125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 886788 rs10465242 G A 613.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10465242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7103;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.7176;1000g2015aug_all=0.709065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:642,57,0 1 886817 rs10465241 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10465241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.865;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.7176;1000g2015aug_all=0.709665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 887560 rs3748595 A C 3557.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=0.786;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.829;1000g2015aug_amr=0.9092;1000g2015aug_all=0.89976;esp6500siv2_all=0.8983;ExAC_ALL=0.9241;ExAC_AFR=0.8309;ExAC_AMR=0.9513;ExAC_EAS=0.9121;ExAC_FIN=0.9540;ExAC_NFE=0.9339;ExAC_OTH=0.9443;ExAC_SAS=0.9171;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3586,333,0 1 887801 rs3828047 A G 6394.77 PASS AC=2;AF=1;AN=2;DP=185;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.267;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=exonic;Gene=NM_015658;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NOC2L:NM_015658:exon10:c.T1182C:p.T394T;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9193;1000g2015aug_all=0.922324;esp6500siv2_all=0.9274;ExAC_ALL=0.9355;ExAC_AFR=0.9094;ExAC_AMR=0.9558;ExAC_EAS=0.9127;ExAC_FIN=0.9599;ExAC_NFE=0.9406;ExAC_OTH=0.9521;ExAC_SAS=0.9184;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,185:185:99:6423,555,0 1 888639 rs3748596 T C 6862.77 PASS AC=2;AF=1;AN=2;DP=211;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=exonic;Gene=NM_015658;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NOC2L:NM_015658:exon9:c.A918G:p.E306E;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9193;1000g2015aug_all=0.922724;esp6500siv2_all=0.9273;ExAC_ALL=0.9356;ExAC_AFR=0.9096;ExAC_AMR=0.9558;ExAC_EAS=0.9124;ExAC_FIN=0.9601;ExAC_NFE=0.9407;ExAC_OTH=0.9511;ExAC_SAS=0.9184;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,211:211:99:6891,634,0 1 888659 rs3748597 T C 6168.77 PASS AC=2;AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=0.725;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=exonic;Gene=NM_015658;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NOC2L:NM_015658:exon9:c.A898G:p.I300V;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9193;1000g2015aug_all=0.922724;esp6500siv2_all=0.9273;ExAC_ALL=0.9355;ExAC_AFR=0.9096;ExAC_AMR=0.9557;ExAC_EAS=0.9126;ExAC_FIN=0.9600;ExAC_NFE=0.9407;ExAC_OTH=0.9509;ExAC_SAS=0.9183;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.070;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.56;MutationAssessor_pred=N;FATHMM_score=-0.39;FATHMM_pred=T;phyloP100way_vertebrate=0.037;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=7.695;gerp++gt2=4.28;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,187:187:99:6197,561,0 1 889158 rs13303056 G C 1546.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.829;1000g2015aug_amr=0.9135;1000g2015aug_all=0.904353;esp6500siv2_all=0.8962;ExAC_ALL=0.9279;ExAC_AFR=0.8307;ExAC_AMR=0.9498;ExAC_EAS=0.9204;ExAC_FIN=0.9573;ExAC_NFE=0.9395;ExAC_OTH=0.9488;ExAC_SAS=0.9177;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1575,105,0 1 889159 rs13302945 A C 1546.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13302945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.829;1000g2015aug_amr=0.9135;1000g2015aug_all=0.904353;esp6500siv2_all=0.8954;ExAC_ALL=0.9279;ExAC_AFR=0.8308;ExAC_AMR=0.9498;ExAC_EAS=0.9202;ExAC_FIN=0.9574;ExAC_NFE=0.9396;ExAC_OTH=0.9491;ExAC_SAS=0.9177;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1575,105,0 1 889638 rs13303206 G C 936.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=2.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.9092;1000g2015aug_all=0.901558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:965,84,0 1 889713 rs13303051 C A 304.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.8245;1000g2015aug_amr=0.9063;1000g2015aug_all=0.897364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:333,24,0 1 892745 rs13303227 G A 409.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.910643\x3bName\x3echr2:130228086;Repeat=.;avsnp150=rs13303227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.9002;1000g2015aug_amr=0.9179;1000g2015aug_all=0.920727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:438,39,0 1 893631 rs6605069 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.910643\x3bName\x3echr2:130228086;Repeat=Score\x3e2303\x3bName\x3e"1510:AluSx1(SINE)";avsnp150=rs6605069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.9078;1000g2015aug_all=0.899161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 893719 rs4970445 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.910643\x3bName\x3echr2:130228086;Repeat=Score\x3e2303\x3bName\x3e"1510:AluSx1(SINE)";avsnp150=rs4970445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.7911;1000g2015aug_all=0.801717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 894573 rs13303010 G A 3239.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=1.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOC2L;Func=intronic;Gene=NM_015658;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327044.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.911172\x3bName\x3echr2:131444698;Repeat=.;avsnp150=rs13303010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.6974;1000g2015aug_all=0.634385;esp6500siv2_all=0.6902;ExAC_ALL=0.8172;ExAC_AFR=0.2692;ExAC_AMR=0.7677;ExAC_EAS=0.7306;ExAC_FIN=0.8993;ExAC_NFE=0.8940;ExAC_OTH=0.8506;ExAC_SAS=0.8674;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:3268,291,0 1 896271 rs112905931 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112905931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3611;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.4971;1000g2015aug_all=0.377796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 896476 rs28393498 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28393498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.9179;1000g2015aug_all=0.922125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 897325 rs4970441 G C 7999.77 PASS AC=2;AF=1;AN=2;DP=253;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=exonic;Gene=NM_198317;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLHL17:NM_198317:exon4:c.G609C:p.A203A;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.8847;1000g2015aug_all=0.859225;esp6500siv2_all=0.8589;ExAC_ALL=0.9077;ExAC_AFR=0.7210;ExAC_AMR=0.9401;ExAC_EAS=0.9079;ExAC_FIN=0.9345;ExAC_NFE=0.9261;ExAC_OTH=0.9283;ExAC_SAS=0.9161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,251:251:99:8028,753,0 1 897564 rs13303229 T C 4635.77 PASS AC=2;AF=1;AN=2;DP=129;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.55;SOR=1.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.9078;1000g2015aug_all=0.89996;esp6500siv2_all=.;ExAC_ALL=0.9155;ExAC_AFR=0.8346;ExAC_AMR=0.9422;ExAC_EAS=0.9411;ExAC_FIN=0.9270;ExAC_NFE=0.9279;ExAC_OTH=0.9223;ExAC_SAS=0.9121;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,129:129:99:4664,388,0 1 898323 rs6605071 T C 1355.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6605071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.9078;1000g2015aug_all=0.926917;esp6500siv2_all=0.9359;ExAC_ALL=0.9415;ExAC_AFR=0.9252;ExAC_AMR=0.9608;ExAC_EAS=0.9184;ExAC_FIN=0.9631;ExAC_NFE=0.9429;ExAC_OTH=0.9537;ExAC_SAS=0.9343;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1384,117,0 1 899928 rs6677386 G C 642.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.8862;1000g2015aug_all=0.828874;esp6500siv2_all=0.8736;ExAC_ALL=0.8819;ExAC_AFR=0.6247;ExAC_AMR=0.9118;ExAC_EAS=0.9053;ExAC_FIN=0.9231;ExAC_NFE=0.9259;ExAC_OTH=0.9310;ExAC_SAS=0.9302;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:671,48,0 1 899937 rs143296006 G T 581.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143296006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.612;1000g2015aug_amr=0.879;1000g2015aug_all=0.832069;esp6500siv2_all=0.8665;ExAC_ALL=0.8821;ExAC_AFR=0.6398;ExAC_AMR=0.9191;ExAC_EAS=0.9029;ExAC_FIN=0.9;ExAC_NFE=0.9273;ExAC_OTH=0.9048;ExAC_SAS=0.9237;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:42:610,42,0 1 899938 rs147467971 G C 581.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.23;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147467971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.612;1000g2015aug_amr=0.879;1000g2015aug_all=0.832069;esp6500siv2_all=.;ExAC_ALL=0.8816;ExAC_AFR=0.6409;ExAC_AMR=0.9143;ExAC_EAS=0.9111;ExAC_FIN=0.9;ExAC_NFE=0.9261;ExAC_OTH=0.9048;ExAC_SAS=0.9231;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:42:610,42,0 1 899942 rs71509448 G A 511.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71509448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.8646;1000g2015aug_all=0.802516;esp6500siv2_all=0.8738;ExAC_ALL=0.8852;ExAC_AFR=0.6376;ExAC_AMR=0.925;ExAC_EAS=0.9174;ExAC_FIN=0.875;ExAC_NFE=0.9265;ExAC_OTH=0.9118;ExAC_SAS=0.9295;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:540,36,0 1 899989 rs6669071 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.889;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 900001 rs28754834 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28754834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.528;1000g2015aug_amr=0.8761;1000g2015aug_all=0.808906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 900009 rs6704181 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6704181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.528;1000g2015aug_amr=0.8761;1000g2015aug_all=0.808906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 900285 rs4970435 C T 2714.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338591.7,ENST00000622660.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.8732;1000g2015aug_all=0.797923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2743,184,0 1 900286 rs4970434 A G 2714.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL17;Func=intronic;Gene=NM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622660.1,ENST00000338591.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.9193;1000g2015aug_all=0.929513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2743,184,0 1 901652 rs2879814 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001160184,NM_032129\x3bNM_198317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2879814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 902997 rs7524174 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379407.7,ENST00000379410.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.534;1000g2015aug_amr=0.745;1000g2015aug_all=0.722244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 906272 rs28507236 A C 598.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.246;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-1.215;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=exonic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLEKHN1:NM_001160184:exon6:c.A498C:p.A166A,PLEKHN1:NM_032129:exon6:c.A498C:p.A166A;Gencode=Name\x3eENST00000379410.7,ENST00000379407.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28507236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.1787;1000g2015aug_all=0.180112;esp6500siv2_all=0.0988;ExAC_ALL=0.1266;ExAC_AFR=0.1938;ExAC_AMR=0.1825;ExAC_EAS=0.3149;ExAC_FIN=0.1210;ExAC_NFE=0.0875;ExAC_OTH=0.1352;ExAC_SAS=0.1063;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,24:53:99:627,0,775 1 907609 rs79890672 T C 860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=85;ExcessHet=3.0103;FS=8.836;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-2.06;SOR=1.475;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379410.7,ENST00000379407.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79890672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.0994;1000g2015aug_all=0.0696885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,38:85:99:889,0,1117 1 907622 rs59928984 G C 889.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.241;DP=84;ExcessHet=3.0103;FS=9.058;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-1.929;SOR=1.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379410.7,ENST00000379407.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59928984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.1138;1000g2015aug_all=0.115016;esp6500siv2_all=0.0758;ExAC_ALL=0.0544;ExAC_AFR=0.2132;ExAC_AMR=0.1160;ExAC_EAS=0.1371;ExAC_FIN=0.0167;ExAC_NFE=0.0163;ExAC_OTH=0.0514;ExAC_SAS=0.0335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,37:84:99:918,0,1132 1 907920 rs28430926 C G 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379407.7,ENST00000379410.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2143\x3bName\x3e"1525:AluSz(SINE)";avsnp150=rs28430926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0378;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.1081;1000g2015aug_all=0.0886581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:220,0,137 1 907994 rs558474450 A C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379407.7,ENST00000379410.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2143\x3bName\x3e"1525:AluSz(SINE)";avsnp150=rs558474450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.0937;1000g2015aug_all=0.0664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:78:81,0,78 1 907998 rs77098784 A T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379410.7,ENST00000379407.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2143\x3bName\x3e"1525:AluSz(SINE)";avsnp150=rs77098784;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.053;1000g2015aug_amr=0.0994;1000g2015aug_all=0.0680911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:78:81,0,78 1 908170 rs28542142 C G 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-0.366;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379410.7,ENST00000379407.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28542142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0179;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.1369;1000g2015aug_all=0.20627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 908414 rs28504611 C T 677.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.184;DP=57;ExcessHet=3.0103;FS=1.04;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.687;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379409.6,ENST00000379407.7,ENST00000379410.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28504611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.1282;1000g2015aug_all=0.18111;esp6500siv2_all=0.1312;ExAC_ALL=0.0857;ExAC_AFR=0.3819;ExAC_AMR=0.1446;ExAC_EAS=0.1457;ExAC_FIN=0.0379;ExAC_NFE=0.0267;ExAC_OTH=0.0767;ExAC_SAS=0.0392;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,28:57:99:706,0,905 1 909238 rs3829740 G C 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=2.484;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=exonic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P;Gencode=Name\x3eENST00000379410.7,ENST00000379407.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3829740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.8169;1000g2015aug_amr=0.6931;1000g2015aug_all=0.776558;esp6500siv2_all=0.6501;ExAC_ALL=0.6685;ExAC_AFR=0.7890;ExAC_AMR=0.6912;ExAC_EAS=0.8778;ExAC_FIN=0.5664;ExAC_NFE=0.5916;ExAC_OTH=0.6964;ExAC_SAS=0.8120;SIFT_score=0.195;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.414;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=-0.431;phyloP20way_mammalian=-0.400;SiPhy_29way_logOdds=2.650;gerp++gt2=2.45;CADD=1.098;CADD_Phred=11.20;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:237,0,303 1 909242 rs3829739 A G 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=2.26;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=exonic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLEKHN1:NM_001160184:exon13:c.A1359G:p.G453G,PLEKHN1:NM_032129:exon14:c.A1464G:p.G488G;Gencode=Name\x3eENST00000379409.6,ENST00000379407.7,ENST00000379410.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3829739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.0317;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.1225;1000g2015aug_all=0.131789;esp6500siv2_all=0.0837;ExAC_ALL=0.0593;ExAC_AFR=0.2319;ExAC_AMR=0.1265;ExAC_EAS=0.1525;ExAC_FIN=0.0393;ExAC_NFE=0.0176;ExAC_OTH=0.0561;ExAC_SAS=0.0309;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:237,0,303 1 909555 rs2340594 A G 573.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379410.7,ENST00000379407.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9623;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.9831;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.9625;1000g2015aug_all=0.896965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:602,48,0 1 909768 rs2340593 A G 2690.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=0.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHN1;Func=intronic;Gene=NM_001160184,NM_032129;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379410.7,ENST00000379407.7,ENST00000379409.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=0.9998;ExAC_ALL=0.9999;ExAC_AFR=0.9993;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2719,237,0 1 911595 rs7417106 A G 1650.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PERM1:NM_001291366:exon4:c.T2330C:p.V777A,PERM1:NM_001291367:exon5:c.T2048C:p.V683A;Gencode=Name\x3eENST00000341290.6,ENST00000433179.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.8012;1000g2015aug_all=0.710264;esp6500siv2_all=.;ExAC_ALL=0.7712;ExAC_AFR=0.4986;ExAC_AMR=0.7639;ExAC_EAS=0.915;ExAC_FIN=0.8636;ExAC_NFE=0.7787;ExAC_OTH=0.7042;ExAC_SAS=0.7877;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=0.518;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.103;Polyphen2_HVAR_pred=B;LRT_score=0.174;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.054;phyloP20way_mammalian=1.138;SiPhy_29way_logOdds=6.784;gerp++gt2=2.15;CADD=2.802;CADD_Phred=21.4;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1679,141,0 1 914192 rs2340595 G C 627.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=intronic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433179.3,ENST00000341290.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.9452;1000g2015aug_all=0.935503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:656,54,0 1 914333 rs13302979 C G 1067.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PERM1:NM_001291366:exon2:c.G2077C:p.E693Q,PERM1:NM_001291367:exon3:c.G1795C:p.E599Q;Gencode=Name\x3eENST00000341290.6,ENST00000433179.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13302979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.6542;1000g2015aug_all=0.55631;esp6500siv2_all=.;ExAC_ALL=0.6617;ExAC_AFR=0.4240;ExAC_AMR=0.7321;ExAC_EAS=0.8014;ExAC_FIN=0.75;ExAC_NFE=0.6343;ExAC_OTH=0.6143;ExAC_SAS=0.6900;SIFT_score=0.52;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.220;phyloP20way_mammalian=-1.099;SiPhy_29way_logOdds=4.04;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1096,102,0 1 914852 rs13303368 G C 772.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PERM1:NM_001291366:exon2:c.C1558G:p.Q520E,PERM1:NM_001291367:exon3:c.C1276G:p.Q426E;Gencode=Name\x3eENST00000433179.3,ENST00000341290.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.6138;1000g2015aug_all=0.51258;esp6500siv2_all=.;ExAC_ALL=0.5950;ExAC_AFR=0.2689;ExAC_AMR=0.5739;ExAC_EAS=0.7054;ExAC_FIN=0.6293;ExAC_NFE=0.5812;ExAC_OTH=0.5068;ExAC_SAS=0.6272;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.14;FATHMM_pred=T;phyloP100way_vertebrate=0.052;phyloP20way_mammalian=-0.380;SiPhy_29way_logOdds=5.766;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:801,60,0 1 914876 rs13302983 T C 822.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PERM1:NM_001291366:exon2:c.A1534G:p.S512G,PERM1:NM_001291367:exon3:c.A1252G:p.S418G;Gencode=Name\x3eENST00000341290.6,ENST00000433179.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13302983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9539;1000g2015aug_all=0.966853;esp6500siv2_all=.;ExAC_ALL=0.9664;ExAC_AFR=0.9570;ExAC_AMR=0.9554;ExAC_EAS=0.9978;ExAC_FIN=0.9741;ExAC_NFE=0.9386;ExAC_OTH=0.9533;ExAC_SAS=0.9823;SIFT_score=0.236;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.211;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.65;FATHMM_pred=T;phyloP100way_vertebrate=-1.229;phyloP20way_mammalian=-0.308;SiPhy_29way_logOdds=2.679;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:851,66,0 1 914940 rs13303033 T C 1232.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PERM1:NM_001291366:exon2:c.A1470G:p.A490A,PERM1:NM_001291367:exon3:c.A1188G:p.A396A;Gencode=Name\x3eENST00000341290.6,ENST00000433179.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.177;1000g2015aug_amr=0.6095;1000g2015aug_all=0.509585;esp6500siv2_all=.;ExAC_ALL=0.5874;ExAC_AFR=0.2698;ExAC_AMR=0.584;ExAC_EAS=0.7;ExAC_FIN=0.5838;ExAC_NFE=0.5679;ExAC_OTH=0.5;ExAC_SAS=0.6232;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1261,111,0 1 915227 rs13303355 A G 7502.77 PASS AC=2;AF=1;AN=2;DP=226;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=0.992;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291366,NM_001291367;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PERM1:NM_001291366:exon2:c.T1183C:p.L395L,PERM1:NM_001291367:exon3:c.T901C:p.L301L;Gencode=Name\x3eENST00000433179.3,ENST00000341290.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.764;1000g2015aug_amr=0.9409;1000g2015aug_all=0.918131;esp6500siv2_all=.;ExAC_ALL=0.9562;ExAC_AFR=0.7839;ExAC_AMR=0.9456;ExAC_EAS=1;ExAC_FIN=0.9766;ExAC_NFE=0.9415;ExAC_OTH=0.9427;ExAC_SAS=0.9815;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,226:226:99:7531,679,0 1 916549 rs6660139 A G 1566.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.82;SOR=2.059;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePERM1;Func=exonic;Gene=NM_001291367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PERM1:NM_001291367:exon2:c.T58C:p.W20R;Gencode=Name\x3eENST00000341290.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.7584;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.781;1000g2015aug_all=0.758586;esp6500siv2_all=.;ExAC_ALL=0.7836;ExAC_AFR=0.6075;ExAC_AMR=0.8048;ExAC_EAS=0.8714;ExAC_FIN=0.7632;ExAC_NFE=0.7359;ExAC_OTH=0.7597;ExAC_SAS=0.8304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1595,135,0 1 935222 rs2298214 C A 911.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHES4;Func=exonic;Gene=NM_001142467;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HES4:NM_001142467:exon1:c.G132T:p.R44S;Gencode=Name\x3eENST00000484667.2,ENST00000428771.6,ENST00000304952.10;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.6268;1000g2015aug_all=0.49381;esp6500siv2_all=0.4367;ExAC_ALL=0.6611;ExAC_AFR=0.2017;ExAC_AMR=0.7607;ExAC_EAS=0.8113;ExAC_FIN=0.6551;ExAC_NFE=0.6485;ExAC_OTH=0.6488;ExAC_SAS=0.6798;SIFT_score=0.959;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.38;FATHMM_pred=T;phyloP100way_vertebrate=-0.582;phyloP20way_mammalian=0.407;SiPhy_29way_logOdds=0.639;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:940,81,0 1 935459 rs3128113 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHES4;Func=UTR5;Gene=NM_001142467,NM_021170;GeneDetail=NM_001142467:c.-106T>C\x3bNM_021170:c.-106T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304952.10,ENST00000428771.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.323;1000g2015aug_amr=0.7896;1000g2015aug_all=0.677117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 936210 rs3121569 C A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001142467,NM_021170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"1585:(GGCCG)n(Simple_repeat)";avsnp150=rs3121569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.8213;1000g2015aug_all=0.802915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 948870 rs4615788 C G 1243.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eISG15;Func=UTR5;Gene=NM_005101;GeneDetail=NM_005101:c.-84C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379389.4,ENST00000624697.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4615788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.9308;1000g2015aug_all=0.902955;esp6500siv2_all=0.8898;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1272,87,0 1 948921 rs15842 T C 1408.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eISG15;Func=UTR5;Gene=NM_005101;GeneDetail=NM_005101:c.-33T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379389.4,ENST00000624697.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.7201;1000g2015aug_amr=0.9308;1000g2015aug_all=0.903155;esp6500siv2_all=0.8858;ExAC_ALL=0.9416;ExAC_AFR=0.7386;ExAC_AMR=0.9632;ExAC_EAS=0.9998;ExAC_FIN=0.9681;ExAC_NFE=0.9543;ExAC_OTH=0.9410;ExAC_SAS=0.9617;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1437,135,0 1 949235 rs2465124 G A 1158.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eISG15;Func=intronic;Gene=NM_005101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624697.3,ENST00000379389.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2465124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.9308;1000g2015aug_all=0.89976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1187,87,0 1 949654 rs8997 A G 3812.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eISG15;Func=exonic;Gene=NM_005101;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ISG15:NM_005101:exon2:c.A294G:p.V98V;Gencode=Name\x3eENST00000624697.3,ENST00000379389.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.9179;1000g2015aug_all=0.825679;esp6500siv2_all=0.8204;ExAC_ALL=0.9122;ExAC_AFR=0.5636;ExAC_AMR=0.9528;ExAC_EAS=0.9254;ExAC_FIN=0.9472;ExAC_NFE=0.9446;ExAC_OTH=0.9202;ExAC_SAS=0.9501;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3841,330,0 1 949925 rs2799070 C T 791.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_005101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.9265;1000g2015aug_all=0.872804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:820,69,0 1 976514 rs79290478 C A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e97\x3bName\x3e"1642:G-rich(Low_complexity)";avsnp150=rs79290478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 977330 rs2799066 T C 764.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799066;cosmic70=.;CLNALLELEID=133741;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.9207;1000g2015aug_all=0.885184;esp6500siv2_all=0.8526;ExAC_ALL=0.9166;ExAC_AFR=0.7175;ExAC_AMR=0.9541;ExAC_EAS=0.9998;ExAC_FIN=0.9492;ExAC_NFE=0.9161;ExAC_OTH=0.9326;ExAC_SAS=0.9544;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:793,66,0 1 977570 rs2710876 G A 1353.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=2.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2710876;cosmic70=.;CLNALLELEID=249309;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.3896;1000g2015aug_amr=0.8963;1000g2015aug_all=0.794129;esp6500siv2_all=0.7741;ExAC_ALL=0.8946;ExAC_AFR=0.4638;ExAC_AMR=0.9367;ExAC_EAS=0.9691;ExAC_FIN=0.9376;ExAC_NFE=0.9136;ExAC_OTH=0.9184;ExAC_SAS=0.9479;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1382,117,0 1 980460 rs3128097 G A 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.7738;1000g2015aug_amr=0.9323;1000g2015aug_all=0.911941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 981087 rs3128098 A G 3871.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128098;cosmic70=.;CLNALLELEID=249321;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.9179;1000g2015aug_all=0.869409;esp6500siv2_all=0.8321;ExAC_ALL=0.9128;ExAC_AFR=0.6454;ExAC_AMR=0.9480;ExAC_EAS=0.9999;ExAC_FIN=0.9509;ExAC_NFE=0.9217;ExAC_OTH=0.9357;ExAC_SAS=0.9570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3900,331,0 1 981931 rs2465128 A G 1621.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=exonic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGRN:NM_198576:exon18:c.A3066G:p.S1022S;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2465128;cosmic70=.;CLNALLELEID=133746;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.8905;1000g2015aug_all=0.797724;esp6500siv2_all=0.7802;ExAC_ALL=0.8767;ExAC_AFR=0.5130;ExAC_AMR=0.9312;ExAC_EAS=0.9649;ExAC_FIN=0.9266;ExAC_NFE=0.9018;ExAC_OTH=0.8983;ExAC_SAS=0.8890;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1650,152,0 1 982444 rs3128099 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9185;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.9049;1000g2015aug_all=0.821885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 982462 rs3128100 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.938;1000g2015aug_amr=0.9841;1000g2015aug_all=0.980831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 982513 rs3128101 T C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.938;1000g2015aug_all=0.928714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 982941 rs3128102 T C 5095.77 PASS AC=2;AF=1;AN=2;DP=159;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128102;cosmic70=.;CLNALLELEID=249331;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.8991;1000g2015aug_all=0.79992;esp6500siv2_all=0.7666;ExAC_ALL=0.8859;ExAC_AFR=0.4549;ExAC_AMR=0.9356;ExAC_EAS=0.9689;ExAC_FIN=0.9298;ExAC_NFE=0.9109;ExAC_OTH=0.9154;ExAC_SAS=0.9458;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,159:159:99:5124,477,0 1 982994 rs10267 T C 4258.77 PASS AC=2;AF=1;AN=2;DP=125;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=exonic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGRN:NM_198576:exon21:c.T3558C:p.F1186F;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10267;cosmic70=.;CLNALLELEID=133751;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.9035;1000g2015aug_all=0.835863;esp6500siv2_all=0.7912;ExAC_ALL=0.8989;ExAC_AFR=0.5354;ExAC_AMR=0.9420;ExAC_EAS=0.9995;ExAC_FIN=0.9490;ExAC_NFE=0.9151;ExAC_OTH=0.9256;ExAC_SAS=0.9543;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,125:125:99:4287,375,0 1 984302 rs9442391 T C 385.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=exonic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGRN:NM_198576:exon24:c.T4161C:p.T1387T;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9442391;cosmic70=.;CLNALLELEID=133756;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.6614;1000g2015aug_all=0.545727;esp6500siv2_all=0.4586;ExAC_ALL=0.6295;ExAC_AFR=0.3853;ExAC_AMR=0.7571;ExAC_EAS=0.8435;ExAC_FIN=0.6654;ExAC_NFE=0.6388;ExAC_OTH=0.5748;ExAC_SAS=0.5753;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:414,42,0 1 985266 rs2275813 C T 361.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.811;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.103;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275813;cosmic70=.;CLNALLELEID=249338;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.6398;1000g2015aug_all=0.495208;esp6500siv2_all=0.4022;ExAC_ALL=0.5436;ExAC_AFR=0.1637;ExAC_AMR=0.7253;ExAC_EAS=0.8084;ExAC_FIN=0.5250;ExAC_NFE=0.5312;ExAC_OTH=0.5426;ExAC_SAS=0.5470;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:390,0,559 1 985446 rs2275812 G T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275812;cosmic70=.;CLNALLELEID=249341;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.4625;1000g2015aug_all=0.335463;esp6500siv2_all=.;ExAC_ALL=0.4567;ExAC_AFR=0.1015;ExAC_AMR=0.4140;ExAC_EAS=0.1155;ExAC_FIN=0.5109;ExAC_NFE=0.5014;ExAC_OTH=0.4068;ExAC_SAS=0.4851;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 985449 rs2799067 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799067;cosmic70=.;CLNALLELEID=249342;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.5692;1000g2015aug_all=0.525559;esp6500siv2_all=.;ExAC_ALL=0.5301;ExAC_AFR=0.2016;ExAC_AMR=0.4845;ExAC_EAS=0.25;ExAC_FIN=0.5385;ExAC_NFE=0.5704;ExAC_OTH=0.4508;ExAC_SAS=0.5568;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 986443 rs2710887 C T 974.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2710887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.3896;1000g2015aug_amr=0.8876;1000g2015aug_all=0.788538;esp6500siv2_all=.;ExAC_ALL=0.8757;ExAC_AFR=0.4598;ExAC_AMR=0.8975;ExAC_EAS=0.9981;ExAC_FIN=0.9396;ExAC_NFE=0.9087;ExAC_OTH=0.9043;ExAC_SAS=0.8880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:89:1003,89,0 1 987200 rs9803031 C T 2640.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=1.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9803031;cosmic70=.;CLNALLELEID=133766;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.4017;1000g2015aug_amr=0.8876;1000g2015aug_all=0.788738;esp6500siv2_all=0.7569;ExAC_ALL=0.8757;ExAC_AFR=0.4520;ExAC_AMR=0.9366;ExAC_EAS=0.9968;ExAC_FIN=0.9443;ExAC_NFE=0.9055;ExAC_OTH=0.9101;ExAC_SAS=0.8844;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2669,231,0 1 988503 rs2799071 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.889;1000g2015aug_all=0.789137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 988932 rs2710871 G C 836.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=intronic;Gene=NM_001305275,NM_198576;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2710871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.91;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.8775;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:865,72,0 1 990380 rs3121561 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.842;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=UTR3;Gene=NM_001305275,NM_198576;GeneDetail=NM_001305275:c.*19C>T\x3bNM_198576:c.*19C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121561;cosmic70=.;CLNALLELEID=249353;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.2594;1000g2015aug_all=0.34345;esp6500siv2_all=0.3418;ExAC_ALL=0.3334;ExAC_AFR=0.5610;ExAC_AMR=0.2791;ExAC_EAS=0.2212;ExAC_FIN=0.4643;ExAC_NFE=0.3195;ExAC_OTH=0.3765;ExAC_SAS=0.3068;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 990417 rs2465136 T C 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.842;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=UTR3;Gene=NM_001305275,NM_198576;GeneDetail=NM_001305275:c.*56T>C\x3bNM_198576:c.*56T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379370.6,ENST00000620552.4,ENST00000418300.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2465136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.2723;1000g2015aug_all=0.383986;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 990517 rs2710872 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGRN;Func=UTR3;Gene=NM_001305275,NM_198576;GeneDetail=NM_001305275:c.*156C>T\x3bNM_198576:c.*156C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620552.4,ENST00000379370.6,ENST00000418300.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2710872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.928;1000g2015aug_all=0.917931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 994391 rs2488991 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001305275,NM_001205252;GeneDetail=dist\x3e2892\x3bdist\x3e12735;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"1653:GA-rich(Low_complexity)";avsnp150=rs2488991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.3563;1000g2015aug_amr=0.8818;1000g2015aug_all=0.773762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1004202 rs61766321 G A 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001305275,NM_001205252;GeneDetail=dist\x3e12703\x3bdist\x3e2924;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.5072;1000g2015aug_all=0.466254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 1004204 rs61766322 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001305275,NM_001205252;GeneDetail=dist\x3e12705\x3bdist\x3e2922;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.5072;1000g2015aug_all=0.466254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 1006990 rs4326571 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001205252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453464.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4326571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.8012;1000g2015aug_all=0.816294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 1007203 rs4633229 A G 1746.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=3.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF223;Func=exonic;Gene=NM_001205252;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RNF223:NM_001205252:exon2:c.T744C:p.D248D;Gencode=Name\x3eENST00000453464.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4633229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.8112;1000g2015aug_all=0.841254;esp6500siv2_all=.;ExAC_ALL=0.8154;ExAC_AFR=0.8288;ExAC_AMR=0.8108;ExAC_EAS=0.8871;ExAC_FIN=0.75;ExAC_NFE=0.8116;ExAC_OTH=0.8;ExAC_SAS=0.8151;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1775,152,0 1 1007222 rs71628928 G T 849.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.689;DP=64;ExcessHet=3.0103;FS=1.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.569;SOR=0.443;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF223;Func=exonic;Gene=NM_001205252;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF223:NM_001205252:exon2:c.C725A:p.P242H;Gencode=Name\x3eENST00000453464.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71628928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.0951;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=0.2279;ExAC_AFR=0.0679;ExAC_AMR=0.2143;ExAC_EAS=0.0547;ExAC_FIN=0.5;ExAC_NFE=0.2038;ExAC_OTH=0.2843;ExAC_SAS=0.2437;SIFT_score=0.205;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-1.61;FATHMM_pred=D;phyloP100way_vertebrate=3.154;phyloP20way_mammalian=0.898;SiPhy_29way_logOdds=9.015;gerp++gt2=3.44;CADD=3.639;CADD_Phred=23.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,36:64:99:878,0,855 1 1007432 rs4333796 G A 952.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.069;DP=79;ExcessHet=3.0103;FS=2.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.345;SOR=1.042;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF223;Func=exonic;Gene=NM_001205252;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF223:NM_001205252:exon2:c.C515T:p.A172V;Gencode=Name\x3eENST00000453464.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4333796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.6643;1000g2015aug_all=0.532149;esp6500siv2_all=.;ExAC_ALL=0.5721;ExAC_AFR=0.3333;ExAC_AMR=0.5814;ExAC_EAS=0.7969;ExAC_FIN=.;ExAC_NFE=0.6066;ExAC_OTH=0.5370;ExAC_SAS=0.5623;SIFT_score=0.3;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=-1.67;FATHMM_pred=D;phyloP100way_vertebrate=-1.398;phyloP20way_mammalian=-1.151;SiPhy_29way_logOdds=3.308;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,36:79:99:981,0,1151 1 1011095 rs11810785 A G 59.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001205252,NM_017891;GeneDetail=dist\x3e1408\x3bdist\x3e6103;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11810785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.8876;1000g2015aug_all=0.917532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:87,9,0 1 1018144 rs9442395 T C 267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.075;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.805;SOR=0.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=UTR3;Gene=NM_001330306,NM_017891;GeneDetail=NM_001330306:c.*129A>G\x3bNM_017891:c.*129A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000379320.5,ENST00000379339.5,ENST00000421241.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9442395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.6571;1000g2015aug_all=0.53774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:296,0,200 1 1018551 rs187922250 C T 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=0.536;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000379320.5,ENST00000379339.5,ENST00000421241.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs187922250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.000998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 1019175 rs2298215 C G 1772.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=1.464;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000421241.6,ENST00000379320.5,ENST00000379339.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.7795;1000g2015aug_all=0.702875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1801,138,0 1 1019180 rs9442396 T C 681.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.598;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.042;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379339.5,ENST00000379320.5,ENST00000421241.6,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9442396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.683;1000g2015aug_all=0.600639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,26:46:99:710,0,478 1 1019383 rs139896904 C T 1183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.285;DP=85;ExcessHet=3.0103;FS=1.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=2.166;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=exonic;Gene=NM_001330306;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf159:NM_001330306:exon11:c.G960A:p.P320P;Gencode=Name\x3eENST00000379320.5,ENST00000379339.5,ENST00000421241.6,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139896904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0089;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00299521;esp6500siv2_all=0.0044;ExAC_ALL=0.0075;ExAC_AFR=0.0015;ExAC_AMR=0.0084;ExAC_EAS=0;ExAC_FIN=0.0213;ExAC_NFE=0.0096;ExAC_OTH=0.0021;ExAC_SAS=0.0045;SIFT_score=0.884;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.635;phyloP20way_mammalian=-0.355;SiPhy_29way_logOdds=5.604;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,49:85:99:1212,0,928 1 1020406 rs9442397 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421241.6,ENST00000379320.5,ENST00000379339.5,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9442397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.7911;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 1021346 rs10907177 A G 1145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.075;DP=91;ExcessHet=3.0103;FS=1.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.788;SOR=0.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=exonic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf159:NM_017891:exon7:c.T357C:p.I119I,C1orf159:NM_001330306:exon9:c.T465C:p.I155I;Gencode=Name\x3eENST00000421241.6,ENST00000379339.5,ENST00000379320.5,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.239;1000g2015aug_amr=0.1311;1000g2015aug_all=0.178914;esp6500siv2_all=0.1871;ExAC_ALL=0.1701;ExAC_AFR=0.2481;ExAC_AMR=0.0883;ExAC_EAS=0.0964;ExAC_FIN=0.2396;ExAC_NFE=0.1722;ExAC_OTH=0.2067;ExAC_SAS=0.1787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,42:91:99:1174,0,1313 1 1021415 rs3737728 A G 1531.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000421241.6,ENST00000379320.5,ENST00000379339.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.8109;1000g2015aug_amr=0.8055;1000g2015aug_all=0.8127;esp6500siv2_all=0.7400;ExAC_ALL=0.7559;ExAC_AFR=0.7857;ExAC_AMR=0.8230;ExAC_EAS=0.8943;ExAC_FIN=0.7303;ExAC_NFE=0.7156;ExAC_OTH=0.7701;ExAC_SAS=0.7883;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1560,144,0 1 1021583 rs10907178 A C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000421241.6,ENST00000379320.5,ENST00000379339.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.1225;1000g2015aug_all=0.173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 1023145 rs3737727 G A 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.609;DP=34;ExcessHet=3.0103;FS=1.459;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.483;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000421241.6,ENST00000379339.5,ENST00000379320.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.0994;1000g2015aug_all=0.166933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,18:34:99:446,0,454 1 1026707 rs4074137 C A 800.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.845;DP=51;ExcessHet=3.0103;FS=6.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.464;SOR=1.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379339.5,ENST00000379320.5,ENST00000421241.6,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4074137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.68;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.6945;1000g2015aug_all=0.626997;esp6500siv2_all=.;ExAC_ALL=0.6665;ExAC_AFR=0.4324;ExAC_AMR=0.7037;ExAC_EAS=0.9214;ExAC_FIN=0.7667;ExAC_NFE=0.6368;ExAC_OTH=0.7375;ExAC_SAS=0.7161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,28:51:99:829,0,557 1 1026801 rs4562563 T A 1293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.869;DP=85;ExcessHet=3.0103;FS=0.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.189;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421241.6,ENST00000379320.5,ENST00000379339.5,ENST00000379319.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4562563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.7277;1000g2015aug_all=0.626597;esp6500siv2_all=0.5555;ExAC_ALL=0.6723;ExAC_AFR=0.4497;ExAC_AMR=0.7113;ExAC_EAS=0.9056;ExAC_FIN=0.7059;ExAC_NFE=0.6451;ExAC_OTH=0.6446;ExAC_SAS=0.7272;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,47:85:99:1322,0,876 1 1027070 rs11260590 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.319;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf159;Func=intronic;Gene=NM_001330306,NM_017891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379319.5,ENST00000379339.5,ENST00000379320.5,ENST00000421241.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11260590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.1081;1000g2015aug_all=0.189497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,226 1 1061262 rs12757754 A G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017891,NR_038869;GeneDetail=dist\x3e9526\x3bdist\x3e11135;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.1124;1000g2015aug_all=0.141773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 1061508 rs12736814 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017891,NR_038869;GeneDetail=dist\x3e9772\x3bdist\x3e10889;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12736814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2252;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.1124;1000g2015aug_all=0.134984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 1077962 rs55750860 C T 376.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01342;Func=ncRNA_intronic;Gene=NR_038869;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416774.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55750860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.663;1000g2015aug_afr=0.292;1000g2015aug_amr=0.7219;1000g2015aug_all=0.517971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:405,30,0 1 1078583 rs12737205 C T 352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.466;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.514;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01342;Func=ncRNA_exonic;Gene=NR_038869;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416774.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0219649;esp6500siv2_all=.;ExAC_ALL=0.0597;ExAC_AFR=0.0098;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0986;ExAC_OTH=0.0833;ExAC_SAS=0.0102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,15:27:99:381,0,318 1 1095383 rs6604973 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038869,NR_029639;GeneDetail=dist\x3e15949\x3bdist\x3e7101;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1926\x3bName\x3e"1789:AluJb(SINE)";avsnp150=rs6604973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.8439;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.8127;1000g2015aug_all=0.708267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 1103542 rs7518873 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.36;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NR_029957\x3bNR_029639,NR_029834;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.7939;1000g2015aug_all=0.80012;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 1111649 rs768097107 A C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.457;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.87;MQRankSum=-1.192;QD=9.42;ReadPosRankSum=0.357;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379290.5,ENST00000379289.5,ENST00000379317.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs768097107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0028;ExAC_AFR=0.0017;ExAC_AMR=0.0158;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0063;ExAC_OTH=0;ExAC_SAS=0.0011;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:179,0,184 1 1115994 rs13376597 G A 1700.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.722;DP=115;ExcessHet=3.0103;FS=4.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.464;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379289.5,ENST00000379288.3,ENST00000379290.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13376597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.2147;1000g2015aug_all=0.270367;esp6500siv2_all=0.2219;ExAC_ALL=0.2814;ExAC_AFR=0.4576;ExAC_AMR=0.3175;ExAC_EAS=0.1848;ExAC_FIN=0.3939;ExAC_NFE=0.1885;ExAC_OTH=0.2222;ExAC_SAS=0.3259;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,63:115:99:1729,0,1508 1 1116231 rs13374146 T C 877.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.992;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.08;ReadPosRankSum=-0.542;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=exonic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTLL10:NM_153254:exon4:c.T527C:p.V176A,TTLL10:NM_001130045:exon8:c.T746C:p.V249A;Gencode=Name\x3eENST00000379289.5,ENST00000379290.5,ENST00000379288.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13374146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.1282;1000g2015aug_all=0.200679;esp6500siv2_all=0.1703;ExAC_ALL=0.1933;ExAC_AFR=0.4417;ExAC_AMR=0.2223;ExAC_EAS=0.0718;ExAC_FIN=0.1780;ExAC_NFE=0.1093;ExAC_OTH=0.1489;ExAC_SAS=0.2714;SIFT_score=0.711;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.355;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=0.026;phyloP20way_mammalian=0.066;SiPhy_29way_logOdds=2.960;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,30:46:99:906,0,458 1 1117398 rs12097586 A G 714.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.529;DP=54;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.573;SOR=0.909;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379290.5,ENST00000379288.3,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.332;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.6239;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,25:54:99:743,0,779 1 1117486 rs13376670 A G 374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.993;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.98;ReadPosRankSum=0.065;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379289.5,ENST00000379290.5,ENST00000379288.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13376670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.32;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.2147;1000g2015aug_all=0.294928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:90:403,0,90 1 1118212 rs10907171 T C 1129.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.341;DP=72;ExcessHet=3.0103;FS=5.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.998;SOR=1.398;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379289.5,ENST00000379290.5,ENST00000379288.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.5389;1000g2015aug_all=0.640176;esp6500siv2_all=0.4237;ExAC_ALL=0.5380;ExAC_AFR=0.7729;ExAC_AMR=0.7004;ExAC_EAS=0.7843;ExAC_FIN=0.4234;ExAC_NFE=0.3375;ExAC_OTH=0.5431;ExAC_SAS=0.7109;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,40:72:99:1158,0,854 1 1118275 rs61733845 C T 1797.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.345;DP=113;ExcessHet=3.0103;FS=4.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=1.023;SOR=1.173;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=exonic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTLL10:NM_153254:exon7:c.C717T:p.C239C,TTLL10:NM_001130045:exon11:c.C936T:p.C312C;Gencode=Name\x3eENST00000379289.5,ENST00000379290.5,ENST00000379288.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61733845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.121;1000g2015aug_all=0.185703;esp6500siv2_all=0.1624;ExAC_ALL=0.2259;ExAC_AFR=0.4700;ExAC_AMR=0.3063;ExAC_EAS=0.1182;ExAC_FIN=0.2173;ExAC_NFE=0.1130;ExAC_OTH=0.1802;ExAC_SAS=0.3060;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,66:113:99:1826,0,1232 1 1118578 rs111290899 G A 129.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.464;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379288.3,ENST00000379290.5,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111290899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.1182;1000g2015aug_all=0.178914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:158,0,128 1 1119200 rs11589407 G A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.25;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.42;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379288.3,ENST00000379290.5,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:374,0,553 1 1119657 rs4560982 G C 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.038;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379288.3,ENST00000379290.5,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4560982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9286;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.6311;1000g2015aug_all=0.741014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:193,0,331 1 1120091 rs4081331 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.89;MQRankSum=-0.674;QD=13.13;ReadPosRankSum=1.036;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=intronic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379290.5,ENST00000379288.3,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4081331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 1120431 rs1320571 G A 2374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.411;DP=163;ExcessHet=3.0103;FS=2.759;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.749;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL10;Func=exonic;Gene=NM_001130045,NM_153254;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTLL10:NM_153254:exon9:c.G1124A:p.S375N,TTLL10:NM_001130045:exon13:c.G1343A:p.S448N;Gencode=Name\x3eENST00000379290.5,ENST00000379288.3,ENST00000379289.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1320571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.0562;1000g2015aug_all=0.185304;esp6500siv2_all=0.1436;ExAC_ALL=0.1081;ExAC_AFR=0.3335;ExAC_AMR=0.0589;ExAC_EAS=0.1193;ExAC_FIN=0.0739;ExAC_NFE=0.0532;ExAC_OTH=0.1021;ExAC_SAS=0.2276;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_pred=P;MutationAssessor_score=-1.725;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;phyloP100way_vertebrate=5.707;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=8.369;gerp++gt2=4.54;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,90:163:99:2403,0,1830 1 1147422 rs17568 C T 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.179;DP=50;ExcessHet=3.0103;FS=5.847;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.016;SOR=0.245;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF4;Func=exonic;Gene=NM_003327;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNFRSF4:NM_003327:exon5:c.G534A:p.E178E;Gencode=Name\x3eENST00000379236.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17568;cosmic70=.;CLNALLELEID=389315;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.5043;1000g2015aug_all=0.498403;esp6500siv2_all=0.2642;ExAC_ALL=0.3751;ExAC_AFR=0.4157;ExAC_AMR=0.6544;ExAC_EAS=0.7390;ExAC_FIN=0.2564;ExAC_NFE=0.2248;ExAC_OTH=0.3346;ExAC_SAS=0.5750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,22:49:99:539,0,743 1 1156131 rs2887286 T C 1289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.182;DP=89;ExcessHet=3.0103;FS=2.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.097;SOR=0.461;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDF4;Func=intronic;Gene=NM_016176,NM_016547;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360001.10,ENST00000263741.11;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2887286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8462;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.4481;1000g2015aug_all=0.511182;esp6500siv2_all=.;ExAC_ALL=0.4131;ExAC_AFR=0.4105;ExAC_AMR=0.4022;ExAC_EAS=0.8143;ExAC_FIN=0.5;ExAC_NFE=0.1656;ExAC_OTH=0.2966;ExAC_SAS=0.4980;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,49:89:99:1318,0,1104 1 1158631 rs6603781 A G 1900.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=1.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDF4;Func=exonic;Gene=NM_016176,NM_016547;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D;Gencode=Name\x3eENST00000263741.11,ENST00000360001.10;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6603781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9294;1000g2015aug_all=0.953275;esp6500siv2_all=0.9200;ExAC_ALL=0.9166;ExAC_AFR=0.9825;ExAC_AMR=0.9568;ExAC_EAS=0.9998;ExAC_FIN=0.8569;ExAC_NFE=0.8864;ExAC_OTH=0.9106;ExAC_SAS=0.9499;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1929,159,0 1 1159517 rs6702268 T C 474.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDF4;Func=intronic;Gene=NM_016176,NM_016547;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360001.10,ENST00000263741.11;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9185;1000g2015aug_afr=1;1000g2015aug_amr=0.9539;1000g2015aug_all=0.974042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:503,39,0 1 1198618 rs12563338 T A 800.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.6;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.217;SOR=0.563;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2J2;Func=intronic;Gene=NM_058167,NM_194315,NM_194457,NM_194458;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400930.8,ENST00000349431.10,ENST00000400929.6,ENST00000360466.6,ENST00000347370.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12563338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6637;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.0348;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.3516;1000g2015aug_all=0.325679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:829,0,891 1 1216195 rs55834051 C A 1095.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.65;DP=80;ExcessHet=3.0103;FS=7.464;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.628;SOR=0.589;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379116.9,ENST00000338555.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55834051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.0348;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.3429;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,46:80:99:1124,0,827 1 1220954 rs12751100 G A 758.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.559;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.79;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=exonic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SCNN1D:NM_001130413:exon6:c.G468A:p.S156S;Gencode=Name\x3eENST00000616713.4,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6,ENST00000379116.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12751100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.363;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.3386;1000g2015aug_all=0.442692;esp6500siv2_all=0.2107;ExAC_ALL=0.3157;ExAC_AFR=0.6429;ExAC_AMR=0.3258;ExAC_EAS=0.6456;ExAC_FIN=0.0952;ExAC_NFE=0.0632;ExAC_OTH=0.25;ExAC_SAS=0.4349;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,29:62:99:787,0,803 1 1221138 rs11260578 G A 524.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.721;DP=36;ExcessHet=3.0103;FS=5.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.386;SOR=0.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000379116.9,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11260578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.2824;1000g2015aug_all=0.303714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:553,0,458 1 1221717 rs13306647 C T 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.599;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.229;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379116.9,ENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13306647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.281;1000g2015aug_all=0.304113;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:461,0,546 1 1222267 rs11260579 G C 1310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.457;DP=119;ExcessHet=3.0103;FS=1.503;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.152;SOR=0.896;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=exonic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SCNN1D:NM_001130413:exon8:c.G1031C:p.R344P;Gencode=Name\x3eENST00000325425.12,ENST00000400928.7,ENST00000338555.6,ENST00000379116.9,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11260579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.281;1000g2015aug_all=0.303315;esp6500siv2_all=0.0887;ExAC_ALL=0.1535;ExAC_AFR=0.2425;ExAC_AMR=0.3585;ExAC_EAS=0.5871;ExAC_FIN=0.0227;ExAC_NFE=0.0202;ExAC_OTH=0.0875;ExAC_SAS=0.3112;SIFT_score=0.041;SIFT_pred=D;Polyphen2_HDIV_score=0.537;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.365;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=-0.54;FATHMM_pred=T;phyloP100way_vertebrate=-0.048;phyloP20way_mammalian=0.042;SiPhy_29way_logOdds=1.393;gerp++gt2=.;CADD=2.658;CADD_Phred=20.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,53:119:99:1339,0,1777 1 1222690 rs115316182 C T 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.202;DP=43;ExcessHet=3.0103;FS=7.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.973;SOR=1.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616713.4,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6,ENST00000379116.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115316182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0207668;esp6500siv2_all=0.0394;ExAC_ALL=0.0529;ExAC_AFR=0.0136;ExAC_AMR=0.0421;ExAC_EAS=0.0002;ExAC_FIN=0.0280;ExAC_NFE=0.0760;ExAC_OTH=0.0468;ExAC_SAS=0.0248;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,18:43:99:610,0,980 1 1222695 rs910556 G C 847.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=42;ExcessHet=3.0103;FS=7.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=1.348;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616713.4,ENST00000379116.9,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs910556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.3084;1000g2015aug_all=0.354832;esp6500siv2_all=0.1269;ExAC_ALL=0.2053;ExAC_AFR=0.3824;ExAC_AMR=0.4179;ExAC_EAS=0.6253;ExAC_FIN=0.0582;ExAC_NFE=0.0462;ExAC_OTH=0.1296;ExAC_SAS=0.3988;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:876,0,684 1 1223385 rs2228579 G C 900.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.306;DP=43;ExcessHet=3.0103;FS=1.408;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=2.229;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=exonic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SCNN1D:NM_001130413:exon12:c.G1630C:p.E544Q;Gencode=Name\x3eENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000379116.9,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.0229;1000g2015aug_afr=0.354;1000g2015aug_amr=0.2925;1000g2015aug_all=0.327676;esp6500siv2_all=0.1017;ExAC_ALL=0.2432;ExAC_AFR=0.3600;ExAC_AMR=0.3408;ExAC_EAS=0.6185;ExAC_FIN=0.0714;ExAC_NFE=0.0358;ExAC_OTH=0.1471;ExAC_SAS=0.3248;SIFT_score=0.312;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.117;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.99;MutationAssessor_pred=N;FATHMM_score=-0.34;FATHMM_pred=T;phyloP100way_vertebrate=-0.070;phyloP20way_mammalian=-0.807;SiPhy_29way_logOdds=10.110;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,28:42:99:929,0,407 1 1223608 rs532469927 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000379116.9,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532469927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.245;1000g2015aug_all=0.189097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:50:81,0,50 1 1223626 rs112572774 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379116.9,ENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112572774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:53:79,0,53 1 1223754 rs71628946 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616713.4,ENST00000379116.9,ENST00000325425.12,ENST00000400928.7,ENST00000338555.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71628946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1223759 rs369251722 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379116.9,ENST00000325425.12,ENST00000338555.6,ENST00000400928.7,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs369251722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1225959 rs1570867 C G 1113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.883;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.288;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616713.4,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6,ENST00000379116.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1570867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.4841;1000g2015aug_all=0.56869;esp6500siv2_all=0.2993;ExAC_ALL=0.3432;ExAC_AFR=0.6466;ExAC_AMR=0.6555;ExAC_EAS=0.8746;ExAC_FIN=0.1634;ExAC_NFE=0.1419;ExAC_OTH=0.2759;ExAC_SAS=0.5328;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,43:71:99:1142,0,786 1 1226221 rs2273275 A G 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.463;DP=22;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.518;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379116.9,ENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8581;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.4957;1000g2015aug_all=0.539337;esp6500siv2_all=0.2639;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:317,0,333 1 1226292 rs2273276 G A 143.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.19;DP=22;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-0.41;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=exonic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SCNN1D:NM_001130413:exon16:c.G1935A:p.T645T;Gencode=Name\x3eENST00000616713.4,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6,ENST00000379116.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.005;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.1153;1000g2015aug_all=0.173123;esp6500siv2_all=0.0105;ExAC_ALL=0.0959;ExAC_AFR=0.0237;ExAC_AMR=0.1745;ExAC_EAS=0.4998;ExAC_FIN=0.0081;ExAC_NFE=0.0095;ExAC_OTH=0.0633;ExAC_SAS=0.2046;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:172,0,383 1 1226348 rs586965 C G 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.942;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=-0.175;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=intronic;Gene=NM_001130413;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616713.4,ENST00000379116.9,ENST00000400928.7,ENST00000325425.12,ENST00000338555.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs586965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.3256;1000g2015aug_all=0.504193;esp6500siv2_all=0.3024;ExAC_ALL=0.3186;ExAC_AFR=0.6991;ExAC_AMR=0.4863;ExAC_EAS=0.7966;ExAC_FIN=0.1817;ExAC_NFE=0.1418;ExAC_OTH=0.2582;ExAC_SAS=0.3827;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:160,0,352 1 1227244 rs2239609 G A 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.823;DP=32;ExcessHet=3.0103;FS=3.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.548;SOR=1.398;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCNN1D;Func=UTR3;Gene=NM_001130413;GeneDetail=NM_001130413:c.*254G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338555.6,ENST00000325425.12,ENST00000400928.7,ENST00000379116.9,ENST00000616713.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2239609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.0457;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.2233;1000g2015aug_all=0.129792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:461,0,444 1 1229680 rs2477781 G T 2656.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354700.9,ENST00000353662.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9543;1000g2015aug_afr=1;1000g2015aug_amr=0.9813;1000g2015aug_all=0.98742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2685,246,0 1 1237604 rs2296475 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353662.4,ENST00000354700.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296475;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.9107;1000g2015aug_all=0.882388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 1238492 rs12408158 G A 625.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.436;DP=66;ExcessHet=3.0103;FS=5.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.08;SOR=1.38;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353662.4,ENST00000354700.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.2608;1000g2015aug_all=0.161142;esp6500siv2_all=0.0966;ExAC_ALL=0.1712;ExAC_AFR=0.0637;ExAC_AMR=0.3201;ExAC_EAS=0.2539;ExAC_FIN=0.1422;ExAC_NFE=0.1297;ExAC_OTH=0.1233;ExAC_SAS=0.2588;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,24:66:99:654,0,1165 1 1239339 rs11260584 T G 307.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354700.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11260584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.8602;1000g2015aug_all=0.719249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:336,27,0 1 1242707 rs2274262 A G 1644.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354700.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.9085;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.7305;1000g2015aug_all=0.5;esp6500siv2_all=.;ExAC_ALL=0.7231;ExAC_AFR=0.3351;ExAC_AMR=0.7772;ExAC_EAS=0.275;ExAC_FIN=0.9375;ExAC_NFE=0.9102;ExAC_OTH=0.7424;ExAC_SAS=0.6714;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1673,146,0 1 1242983 rs2887285 G A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACAP3;Func=intronic;Gene=NM_030649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354700.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2887285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.7291;1000g2015aug_all=0.49381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 1245368 rs11590283 G A 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.339;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.447;SOR=0.605;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUSL1;Func=intronic;Gene=NM_001346116,NM_153339;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379031.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.4395;1000g2015aug_all=0.310104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,22:51:99:610,0,887 1 1246004 rs2296474 A G 2424.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=1.031;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUSL1;Func=intronic;Gene=NM_001346116,NM_153339;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000379031.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951877;esp6500siv2_all=0.9769;ExAC_ALL=0.9629;ExAC_AFR=0.9875;ExAC_AMR=0.9886;ExAC_EAS=0.9119;ExAC_FIN=0.9338;ExAC_NFE=0.9709;ExAC_OTH=0.9464;ExAC_SAS=0.9244;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2453,237,0 1 1247494 rs12103 T C 370.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.54;ReadPosRankSum=1.369;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=exonic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=INTS11:NM_001256462:exon14:c.A1347G:p.P449P,INTS11:NM_001256463:exon14:c.A1338G:p.P446P,INTS11:NM_017871:exon16:c.A1641G:p.P547P,INTS11:NM_001256460:exon17:c.A1554G:p.P518P,INTS11:NM_001256456:exon18:c.A1659G:p.P553P;Gencode=Name\x3eENST00000540437.5,ENST00000421495.6,ENST00000411962.5,ENST00000545578.5,ENST00000618806.4,ENST00000435064.5,ENST00000419704.5,ENST00000450926.6,ENST00000620829.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eInflammatory_bowel_disease;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.4424;1000g2015aug_all=0.319289;esp6500siv2_all=0.6009;ExAC_ALL=0.5898;ExAC_AFR=0.1992;ExAC_AMR=0.3975;ExAC_EAS=0.0192;ExAC_FIN=0.6814;ExAC_NFE=0.7867;ExAC_OTH=0.6221;ExAC_SAS=0.3996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:399,0,316 1 1249187 rs12142199 G A 3498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.281;DP=252;ExcessHet=3.0103;FS=7.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.465;SOR=0.403;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=exonic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=INTS11:NM_001256462:exon7:c.C588T:p.F196F,INTS11:NM_001256463:exon7:c.C579T:p.F193F,INTS11:NM_017871:exon9:c.C882T:p.F294F,INTS11:NM_001256460:exon10:c.C795T:p.F265F,INTS11:NM_001256456:exon11:c.C900T:p.F300F;Gencode=Name\x3eENST00000620829.4,ENST00000450926.6,ENST00000419704.5,ENST00000435064.5,ENST00000618806.4,ENST00000545578.5,ENST00000421495.6,ENST00000411962.5,ENST00000540437.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.4395;1000g2015aug_all=0.310104;esp6500siv2_all=0.5864;ExAC_ALL=0.5791;ExAC_AFR=0.1560;ExAC_AMR=0.3152;ExAC_EAS=0.0138;ExAC_FIN=0.7382;ExAC_NFE=0.7965;ExAC_OTH=0.6473;ExAC_SAS=0.3875;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:125,127:252:99:3527,0,3186 1 1250630 rs774164739 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540437.5,ENST00000620829.4,ENST00000435064.5,ENST00000450926.6,ENST00000419704.5,ENST00000421495.6,ENST00000411962.5,ENST00000618806.4,ENST00000545578.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs774164739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 1254136 rs4970432 G A 817.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620829.4,ENST00000421495.6,ENST00000411962.5,ENST00000618806.4,ENST00000545578.5,ENST00000435064.5,ENST00000429572.5,ENST00000450926.6,ENST00000419704.5,ENST00000540437.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.8545;1000g2015aug_all=0.719249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:846,69,0 1 1254436 rs1886773 A G 2209.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419704.5,ENST00000450926.6,ENST00000429572.5,ENST00000435064.5,ENST00000545578.5,ENST00000618806.4,ENST00000411962.5,ENST00000421495.6,ENST00000620829.4,ENST00000540437.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.9121;1000g2015aug_all=0.873403;esp6500siv2_all=.;ExAC_ALL=0.9102;ExAC_AFR=0.8624;ExAC_AMR=0.8858;ExAC_EAS=0.8314;ExAC_FIN=0.9147;ExAC_NFE=0.9532;ExAC_OTH=0.9009;ExAC_SAS=0.8862;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:2238,153,0 1 1254443 rs1886772 G A 2144.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.92;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540437.5,ENST00000545578.5,ENST00000618806.4,ENST00000411962.5,ENST00000421495.6,ENST00000419704.5,ENST00000450926.6,ENST00000435064.5,ENST00000429572.5,ENST00000620829.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.8545;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=0.8608;ExAC_AFR=0.4439;ExAC_AMR=0.8484;ExAC_EAS=0.8358;ExAC_FIN=0.8804;ExAC_NFE=0.9279;ExAC_OTH=0.848;ExAC_SAS=0.8558;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-2.002;phyloP20way_mammalian=-1.429;SiPhy_29way_logOdds=2.902;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:2173,147,0 1 1254841 rs10907179 C G 1903.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=exonic;Gene=NM_001256456,NM_001256460,NM_017871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G;Gencode=Name\x3eENST00000411962.5,ENST00000421495.6,ENST00000618806.4,ENST00000545578.5,ENST00000435064.5,ENST00000429572.5,ENST00000450926.6,ENST00000419704.5,ENST00000620829.4,ENST00000540437.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.8545;1000g2015aug_all=0.713658;esp6500siv2_all=0.7513;ExAC_ALL=0.8476;ExAC_AFR=0.3848;ExAC_AMR=0.7911;ExAC_EAS=0.8258;ExAC_FIN=0.8814;ExAC_NFE=0.9295;ExAC_OTH=0.8330;ExAC_SAS=0.8477;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:1932,189,0 1 1257593 rs1810745 A G 523.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540437.5,ENST00000450926.6,ENST00000419704.5,ENST00000429572.5,ENST00000435064.5,ENST00000627245.1,ENST00000545578.5,ENST00000618806.4,ENST00000421495.6,ENST00000411962.5,ENST00000620829.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1810745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.9078;1000g2015aug_all=0.869209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:552,42,0 1 1258246 rs3845293 A C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPSF3L;Func=intronic;Gene=NM_001256456,NM_001256460,NM_001256462,NM_001256463,NM_017871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540437.5,ENST00000620829.4,ENST00000435064.5,ENST00000429572.5,ENST00000450926.6,ENST00000419704.5,ENST00000411962.5,ENST00000421495.6,ENST00000627245.1,ENST00000618806.4,ENST00000545578.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3845293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.8573;1000g2015aug_all=0.717053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 1260168 rs61766199 C A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPTP;Func=UTR5;Gene=NM_001029885;GeneDetail=NM_001029885:c.-2123C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343938.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.8211;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.8573;1000g2015aug_all=0.708866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 1262591 rs2296472 C T 1472.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPTP;Func=intronic;Gene=NM_001029885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343938.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.8573;1000g2015aug_all=0.719848;esp6500siv2_all=0.7598;ExAC_ALL=0.8515;ExAC_AFR=0.4104;ExAC_AMR=0.7923;ExAC_EAS=0.8255;ExAC_FIN=0.8798;ExAC_NFE=0.9306;ExAC_OTH=0.8345;ExAC_SAS=0.8471;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1501,131,0 1 1262966 rs307349 C T 1930.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPTP;Func=exonic;Gene=NM_001029885;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CPTP:NM_001029885:exon3:c.C468T:p.R156R;Gencode=Name\x3eENST00000343938.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.8732;1000g2015aug_all=0.76258;esp6500siv2_all=0.8131;ExAC_ALL=0.8716;ExAC_AFR=0.6069;ExAC_AMR=0.8069;ExAC_EAS=0.8336;ExAC_FIN=0.8795;ExAC_NFE=0.9301;ExAC_OTH=0.8512;ExAC_SAS=0.8483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1959,183,0 1 1263144 rs307350 G A 1004.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPTP;Func=UTR3;Gene=NM_001029885;GeneDetail=NM_001029885:c.*1G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343938.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.8991;1000g2015aug_all=0.84984;esp6500siv2_all=0.9083;ExAC_ALL=0.8897;ExAC_AFR=0.8332;ExAC_AMR=0.8109;ExAC_EAS=0.8253;ExAC_FIN=0.8806;ExAC_NFE=0.9321;ExAC_OTH=0.8646;ExAC_SAS=0.8479;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1033,99,0 1 1268847 rs307378 T G 2962.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=0.953;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R3;Func=intronic;Gene=NM_152228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339381.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=0.9773;ExAC_ALL=0.9612;ExAC_AFR=0.9873;ExAC_AMR=0.9880;ExAC_EAS=0.9122;ExAC_FIN=0.9340;ExAC_NFE=0.9713;ExAC_OTH=0.9431;ExAC_SAS=0.9227;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:2991,279,0 1 1269554 rs307377 T C 1027.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R3;Func=exonic;Gene=NM_152228;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TAS1R3:NM_152228:exon6:c.T2269C:p.C757R;Gencode=Name\x3eENST00000339381.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951877;esp6500siv2_all=0.9774;ExAC_ALL=0.9613;ExAC_AFR=0.9873;ExAC_AMR=0.988;ExAC_EAS=0.9128;ExAC_FIN=0.9366;ExAC_NFE=0.9721;ExAC_OTH=0.9321;ExAC_SAS=0.9239;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.048;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.125;MutationAssessor_pred=N;FATHMM_score=-2.22;FATHMM_pred=D;phyloP100way_vertebrate=0.360;phyloP20way_mammalian=-0.332;SiPhy_29way_logOdds=1.084;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1056,99,0 1 1273116 rs307371 A G 1232.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=intronic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378888.9,ENST00000378891.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.8775;1000g2015aug_all=0.769569;esp6500siv2_all=.;ExAC_ALL=0.8717;ExAC_AFR=0.7090;ExAC_AMR=0.81;ExAC_EAS=0.8554;ExAC_FIN=0.9231;ExAC_NFE=0.9290;ExAC_OTH=0.8361;ExAC_SAS=0.8542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1261,120,0 1 1274242 rs307369 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=intronic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610709.2,ENST00000378891.9,ENST00000378888.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 1276812 rs307363 G A 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=intronic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378891.9,ENST00000378888.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 1277533 rs307362 T C 2263.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=exonic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DVL1:NM_001330311:exon4:c.A366G:p.P122P,DVL1:NM_004421:exon4:c.A366G:p.P122P;Gencode=Name\x3eENST00000378888.9,ENST00000378891.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.998;1000g2015aug_eur=0.994;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998003;esp6500siv2_all=0.9991;ExAC_ALL=0.9976;ExAC_AFR=0.9998;ExAC_AMR=0.9996;ExAC_EAS=0.9977;ExAC_FIN=0.9599;ExAC_NFE=0.9978;ExAC_OTH=0.9968;ExAC_SAS=0.9984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2292,213,0 1 1278237 rs307361 T C 1259.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=intronic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378891.9,ENST00000378888.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1288,117,0 1 1282270 rs307356 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=intronic;Gene=NM_001330311,NM_004421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378888.9,ENST00000378891.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs307356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1284490 rs150789461 G A 344.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDVL1;Func=UTR5;Gene=NM_001330311,NM_004421;GeneDetail=NM_001330311:c.-45C>T\x3bNM_004421:c.-45C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378888.9,ENST00000378891.9,ENST00000610709.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"2005:(GGCGC)n(Simple_repeat)";avsnp150=rs150789461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.4902;1000g2015aug_amr=0.8746;1000g2015aug_all=0.762979;esp6500siv2_all=0.8731;ExAC_ALL=0.8973;ExAC_AFR=0.7164;ExAC_AMR=0.8429;ExAC_EAS=0.8689;ExAC_FIN=0.8965;ExAC_NFE=0.9488;ExAC_OTH=0.8563;ExAC_SAS=0.8665;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:373,30,0 1 1288345 rs13249 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR3;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=NM_001282582:c.*639T>C\x3bNM_001282583:c.*639T>C\x3bNM_001282584:c.*639T>C\x3bNM_001282585:c.*336T>C\x3bNM_032348:c.*639T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309212.10,ENST00000445648.5,ENST00000477278.3,ENST00000342753.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 1288471 rs3766183 C T 356.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR3;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=NM_001282582:c.*513G>A\x3bNM_001282583:c.*513G>A\x3bNM_001282584:c.*513G>A\x3bNM_001282585:c.*210G>A\x3bNM_032348:c.*513G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309212.10,ENST00000445648.5,ENST00000477278.3,ENST00000342753.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.8761;1000g2015aug_all=0.766374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:385,30,0 1 1288583 rs3845295 C G 2096.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR3;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=NM_001282582:c.*401G>C\x3bNM_001282583:c.*401G>C\x3bNM_001282584:c.*401G>C\x3bNM_001282585:c.*98G>C\x3bNM_032348:c.*401G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342753.8,ENST00000477278.3,ENST00000445648.5,ENST00000309212.10;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3845295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.951;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2125,192,0 1 1288823 rs2296471 A G 1180.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR3;Gene=NM_001282582,NM_001282583,NM_001282584,NM_032348;GeneDetail=NM_001282582:c.*161T>C\x3bNM_001282583:c.*161T>C\x3bNM_001282584:c.*161T>C\x3bNM_032348:c.*161T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342753.8,ENST00000477278.3,ENST00000445648.5,ENST00000309212.10;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.8718;1000g2015aug_all=0.760783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1209,102,0 1 1289911 rs4970365 G A 825.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=intronic;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309212.10,ENST00000445648.5,ENST00000477278.3,ENST00000342753.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.8934;1000g2015aug_all=0.828474;esp6500siv2_all=0.8871;ExAC_ALL=0.8850;ExAC_AFR=0.7740;ExAC_AMR=0.8084;ExAC_EAS=0.8293;ExAC_FIN=0.8825;ExAC_NFE=0.9328;ExAC_OTH=0.8598;ExAC_SAS=0.8463;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:854,69,0 1 1292426 rs35694341 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=intronic;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445648.5,ENST00000309212.10,ENST00000342753.8,ENST00000477278.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35694341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.292;1000g2015aug_amr=0.8559;1000g2015aug_all=0.711462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 1293764 rs34841888 G C 923.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.384;DP=93;ExcessHet=3.0103;FS=1.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-1.931;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=intronic;Gene=NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309212.10,ENST00000445648.5,ENST00000342753.8,ENST00000477278.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34841888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.451;1000g2015aug_all=0.316693;esp6500siv2_all=0.6231;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,38:93:99:952,0,1469 1 1296691 rs2765025 C G 3098.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR5;Gene=NM_001282583;GeneDetail=NM_001282583:c.-48G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477278.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e316\x3bName\x3e"2015:L2b(LINE)";avsnp150=rs2765025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951478;esp6500siv2_all=.;ExAC_ALL=0.9426;ExAC_AFR=0.9924;ExAC_AMR=0.9537;ExAC_EAS=0.9375;ExAC_FIN=0.9348;ExAC_NFE=0.9686;ExAC_OTH=0.9184;ExAC_SAS=0.9226;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:3127,273,0 1 1296818 rs2765024 C G 509.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.76;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMXRA8;Func=UTR5;Gene=NM_001282583;GeneDetail=NM_001282583:c.-175G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477278.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.9813;1000g2015aug_all=0.951078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:538,39,0 1 1309885 rs35745967 A G 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.917;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.422;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAURKAIP1;Func=intronic;Gene=NM_001127229,NM_001127230,NM_017900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338370.7,ENST00000378853.3,ENST00000321751.9,ENST00000338338.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35745967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.3761;1000g2015aug_all=0.392772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:261,0,166 1 1310074 rs2765035 C G 2137.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=0.971;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAURKAIP1;Func=intronic;Gene=NM_001127229,NM_001127230,NM_017900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338370.7,ENST00000378853.3,ENST00000321751.9,ENST00000338338.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.9222;1000g2015aug_all=0.829073;esp6500siv2_all=0.8594;ExAC_ALL=0.8943;ExAC_AFR=0.6512;ExAC_AMR=0.8910;ExAC_EAS=0.8834;ExAC_FIN=0.8245;ExAC_NFE=0.9443;ExAC_OTH=0.9195;ExAC_SAS=0.9090;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2166,213,0 1 1311078 rs2649592 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001127229,NM_001127230,NM_017900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2649592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.615;1000g2015aug_amr=0.8573;1000g2015aug_all=0.804113;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1323078 rs12729599 A G 674.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.527;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.24;ReadPosRankSum=0.418;SOR=0.521;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCNL2;Func=intronic;Gene=NM_001320153,NM_001320155,NM_001350497,NM_001350498,NM_001350499,NM_001350500,NM_030937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000408952.8,ENST00000400809.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12729599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.4481;1000g2015aug_all=0.315096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,22:37:99:703,0,498 1 1330726 rs1240746 A G 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.417;DP=20;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.317;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCNL2;Func=intronic;Gene=NM_001039577,NM_001320153,NM_001320155,NM_001350497,NM_001350498,NM_001350499,NM_001350500,NM_030937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000408918.8,ENST00000400809.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1240746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.5447;1000g2015aug_all=0.68111;esp6500siv2_all=0.3887;ExAC_ALL=0.4260;ExAC_AFR=0.8380;ExAC_AMR=0.6962;ExAC_EAS=0.9857;ExAC_FIN=0.2762;ExAC_NFE=0.1892;ExAC_OTH=0.3636;ExAC_SAS=0.6154;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:198,0,346 1 1333436 rs1240743 C A 513.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCNL2;Func=intronic;Gene=NM_001039577,NM_001320153,NM_001320155,NM_001350497,NM_001350498,NM_001350499,NM_001350500,NM_030937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400809.7,ENST00000408918.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1240743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.7911;1000g2015aug_all=0.86242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:542,39,0 1 1333598 rs35242196 C A 1263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.195;DP=113;ExcessHet=3.0103;FS=3.789;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.491;SOR=1.149;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCNL2;Func=intronic;Gene=NM_001039577,NM_001320153,NM_001320155,NM_001350497,NM_001350498,NM_001350499,NM_001350500,NM_030937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000408918.8,ENST00000400809.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35242196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.3646;1000g2015aug_all=0.370607;esp6500siv2_all=0.1143;ExAC_ALL=0.2428;ExAC_AFR=0.1230;ExAC_AMR=0.4127;ExAC_EAS=0.8799;ExAC_FIN=0.1231;ExAC_NFE=0.1084;ExAC_OTH=0.1843;ExAC_SAS=0.4586;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,46:113:99:1292,0,1784 1 1335790 rs1240708 A G 534.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.425;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=0.245;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC148413;Func=ncRNA_intronic;Gene=NR_015434;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447725.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1240708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.5317;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,20:34:99:563,0,342 1 1337334 rs1171 G T 140.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.175;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC148413,MRPL20;Func=ncRNA_exonic;Gene=NR_015434;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344843.11,ENST00000447725.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.1195;1000g2015aug_amr=0.3646;1000g2015aug_all=0.370807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:169,0,201 1 1342612 rs2275915 G C 4351.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=1.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL20;Func=UTR5;Gene=NM_001318485,NM_017971;GeneDetail=NM_001318485:c.-15C>G\x3bNM_017971:c.-15C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344843.11,ENST00000482352.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.17;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.415;1000g2015aug_all=0.430312;esp6500siv2_all=0.1902;ExAC_ALL=0.3527;ExAC_AFR=0.2963;ExAC_AMR=0.4864;ExAC_EAS=0.8712;ExAC_FIN=0.1840;ExAC_NFE=0.2139;ExAC_OTH=0.3019;ExAC_SAS=0.4910;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,131:131:99:4380,393,0 1 1361633 rs12022947 G A 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM88B;Func=exonic;Gene=NM_001146685;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMEM88B:NM_001146685:exon1:c.G126A:p.S42S;Gencode=Name\x3eENST00000378821.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12022947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.3631;1000g2015aug_all=0.39996;esp6500siv2_all=.;ExAC_ALL=0.4492;ExAC_AFR=0.2409;ExAC_AMR=0.3707;ExAC_EAS=0.9066;ExAC_FIN=0.3333;ExAC_NFE=0.2280;ExAC_OTH=0.4483;ExAC_SAS=0.5581;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,155 1 1361641 rs12030806 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM88B;Func=exonic;Gene=NM_001146685;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMEM88B:NM_001146685:exon1:c.C134T:p.P45L;Gencode=Name\x3eENST00000378821.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12030806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.5418;1000g2015aug_all=0.68131;esp6500siv2_all=.;ExAC_ALL=0.6274;ExAC_AFR=0.7983;ExAC_AMR=0.5263;ExAC_EAS=0.9933;ExAC_FIN=0.5;ExAC_NFE=0.3379;ExAC_OTH=0.5676;ExAC_SAS=0.7129;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.3;MutationAssessor_pred=N;FATHMM_score=1.22;FATHMM_pred=T;phyloP100way_vertebrate=-0.724;phyloP20way_mammalian=-0.270;SiPhy_29way_logOdds=6.833;gerp++gt2=3.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,155 1 1366288 rs1695823 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102724312;Func=ncRNA_exonic;Gene=NR_125994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430109.1,ENST00000417917.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1695823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.5447;1000g2015aug_all=0.684904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1374834 rs1892289 A G 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.228;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.361;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVWA1;Func=exonic;Gene=NM_022834;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VWA1:NM_022834:exon3:c.A1005G:p.P335P;Gencode=Name\x3eENST00000476993.1,ENST00000338660.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.5447;1000g2015aug_all=0.669728;esp6500siv2_all=.;ExAC_ALL=0.5299;ExAC_AFR=0.6562;ExAC_AMR=0.4808;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.2055;ExAC_OTH=0.4487;ExAC_SAS=0.6089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:202,0,335 1 1386016 rs34301361 A G 2151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.387;DP=204;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.21;MQRankSum=-1.672;QD=10.55;ReadPosRankSum=1.143;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=UTR5;Gene=NM_001039211;GeneDetail=NM_001039211:c.-48A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34301361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.174;1000g2015aug_amr=0.33;1000g2015aug_all=0.272564;esp6500siv2_all=.;ExAC_ALL=0.2325;ExAC_AFR=0.1605;ExAC_AMR=0.4620;ExAC_EAS=0.3759;ExAC_FIN=0.2473;ExAC_NFE=0.1539;ExAC_OTH=0.2439;ExAC_SAS=0.3596;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:114,90:204:99:2180,0,3011 1 1387348 rs1781143 C T 939.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.184;DP=104;ExcessHet=3.0103;FS=0.806;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.665;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.455;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.4864;1000g2015aug_amr=0.4236;1000g2015aug_all=0.413139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,38:104:99:968,0,1933 1 1387726 rs9793066 A G 863.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.384;DP=79;ExcessHet=3.0103;FS=1.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.33;SOR=1.004;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9793066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.159;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.3847;1000g2015aug_all=0.290535;esp6500siv2_all=0.1671;ExAC_ALL=0.2432;ExAC_AFR=0.1817;ExAC_AMR=0.5201;ExAC_EAS=0.3776;ExAC_FIN=0.2374;ExAC_NFE=0.1566;ExAC_OTH=0.2528;ExAC_SAS=0.3684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,36:79:99:892,0,1135 1 1387764 rs9793256 G A 959.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.146;DP=81;ExcessHet=3.0103;FS=1.821;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-1.039;QD=11.85;ReadPosRankSum=-0.279;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=exonic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ATAD3C:NM_001039211:exon3:c.G172A:p.G58R;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9793256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.3314;1000g2015aug_all=0.279952;esp6500siv2_all=0.1649;ExAC_ALL=0.2282;ExAC_AFR=0.1774;ExAC_AMR=0.3878;ExAC_EAS=0.3727;ExAC_FIN=0.2358;ExAC_NFE=0.1549;ExAC_OTH=0.2412;ExAC_SAS=0.3650;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.325;MutationAssessor_pred=M;FATHMM_score=-3.49;FATHMM_pred=D;phyloP100way_vertebrate=8.170;phyloP20way_mammalian=0.788;SiPhy_29way_logOdds=11.694;gerp++gt2=2.18;CADD=5.411;CADD_Phred=26.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,38:81:99:988,0,1158 1 1387891 rs1624483 A G 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.007;DP=27;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=59.57;MQRankSum=-1.043;QD=12.81;ReadPosRankSum=-0.464;SOR=1.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1624483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.888;1000g2015aug_amr=0.5634;1000g2015aug_all=0.679513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:374,0,443 1 1387920 rs1625156 G A 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.985;DP=18;ExcessHet=3.0103;FS=7.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.869;SOR=0.044;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1625156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.495;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.4236;1000g2015aug_all=0.39397;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:234,0,364 1 1390717 rs1695866 A G 483.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.882;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.574;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1695866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.534;1000g2015aug_amr=0.4323;1000g2015aug_all=0.426917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,21:41:99:512,0,542 1 1390875 rs1781147 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.629;DP=27;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=58.03;MQRankSum=0.328;QD=4.25;ReadPosRankSum=-0.969;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=exonic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATAD3C:NM_001039211:exon5:c.C414T:p.D138D;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.528;1000g2015aug_amr=0.4323;1000g2015aug_all=0.42512;esp6500siv2_all=0.2788;ExAC_ALL=0.3062;ExAC_AFR=0.4774;ExAC_AMR=0.5443;ExAC_EAS=0.5;ExAC_FIN=0.2722;ExAC_NFE=0.1841;ExAC_OTH=0.3097;ExAC_SAS=0.4290;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,7:27:99:143,0,606 1 1390997 rs1781148 T G 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.59;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.175;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.5648;1000g2015aug_all=0.680312;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:405,0,505 1 1391304 rs1695873 T C 1169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.854;DP=68;ExcessHet=3.0103;FS=2.284;MLEAC=1;MLEAF=0.5;MQ=57.64;MQRankSum=-2.723;QD=17.2;ReadPosRankSum=0.151;SOR=0.447;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1695873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.5333;1000g2015aug_amr=0.4323;1000g2015aug_all=0.427516;esp6500siv2_all=0.2775;ExAC_ALL=0.3075;ExAC_AFR=0.4866;ExAC_AMR=0.5479;ExAC_EAS=0.4966;ExAC_FIN=0.2740;ExAC_NFE=0.1844;ExAC_OTH=0.3176;ExAC_SAS=0.4335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,46:68:99:1198,0,564 1 1391459 rs28407609 T C 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.883;DP=26;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=40.33;MQRankSum=-2.201;QD=7.8;ReadPosRankSum=-1.503;SOR=0.956;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28407609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.531;1000g2015aug_amr=0.428;1000g2015aug_all=0.423722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,10:26:99:231,0,558 1 1391534 rs78377693 G A 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.653;DP=36;ExcessHet=3.0103;FS=8.558;MLEAC=1;MLEAF=0.5;MQ=49.13;MQRankSum=-4.026;QD=4.44;ReadPosRankSum=0.124;SOR=1.486;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78377693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.5242;1000g2015aug_amr=0.4308;1000g2015aug_all=0.424521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,10:36:99:188,0,656 1 1391562 rs1610825 G A 123.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.382;DP=34;ExcessHet=3.0103;FS=3.581;MLEAC=1;MLEAF=0.5;MQ=49.24;MQRankSum=-3.712;QD=3.64;ReadPosRankSum=-2.754;SOR=1.309;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1610825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.4323;1000g2015aug_all=0.424321;esp6500siv2_all=.;ExAC_ALL=0.1944;ExAC_AFR=0.3399;ExAC_AMR=0.3924;ExAC_EAS=0.4583;ExAC_FIN=0.1580;ExAC_NFE=0.1010;ExAC_OTH=0.2082;ExAC_SAS=0.3117;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,9:34:99:152,0,661 1 1392413 rs35334427 A C 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35334427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.4308;1000g2015aug_all=0.415935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 1392451 rs1781149 C T 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.296;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=2.662;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.41;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.4395;1000g2015aug_all=0.441693;esp6500siv2_all=0.3051;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:227,0,136 1 1395983 rs2801372 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.53;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3C;Func=intronic;Gene=NM_001039211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378785.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2801372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9107;1000g2015aug_all=0.973243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 1417696 rs819970 C G 641.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.673;DP=36;ExcessHet=3.0103;FS=1.359;MLEAC=1;MLEAF=0.5;MQ=50.67;MQRankSum=-4.92;QD=17.83;ReadPosRankSum=-0.873;SOR=0.42;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3B;Func=intronic;Gene=NM_001317238,NM_031921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308647.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1504522;Repeat=.;avsnp150=rs819970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.8386;1000g2015aug_all=0.891573;esp6500siv2_all=.;ExAC_ALL=0.6499;ExAC_AFR=0.8526;ExAC_AMR=0.7624;ExAC_EAS=0.9978;ExAC_FIN=0.4834;ExAC_NFE=0.5701;ExAC_OTH=0.6057;ExAC_SAS=0.8328;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,23:36:99:670,0,401 1 1418531 rs819973 G A 409.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.15;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3B;Func=intronic;Gene=NM_001317238,NM_031921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308647.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1504522;Repeat=Score\x3e1615\x3bName\x3e"2252:AluSc8(SINE)";avsnp150=rs819973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=0.9992;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=0.9848;ExAC_FIN=.;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:34:438,34,0 1 1420637 rs35871802 C T 755.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.324;DP=62;ExcessHet=3.0103;FS=1.06;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-0.092;QD=12.19;ReadPosRankSum=1.842;SOR=0.966;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3B;Func=intronic;Gene=NM_001317238,NM_031921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308647.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1504522;Repeat=.;avsnp150=rs35871802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0211661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,29:62:99:784,0,941 1 1458073 rs3118507 A G 503.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.734;DP=24;ExcessHet=3.0103;FS=2.76;MLEAC=1;MLEAF=0.5;MQ=58.4;MQRankSum=-1.521;QD=20.99;ReadPosRankSum=-0.222;SOR=0.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3A;Func=intronic;Gene=NM_001170535,NM_001170536,NM_018188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378756.7,ENST00000378755.9,ENST00000536055.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1464079;Repeat=.;avsnp150=rs3118507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.047;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.1239;1000g2015aug_all=0.0828674;esp6500siv2_all=0.1577;ExAC_ALL=0.1693;ExAC_AFR=0.0392;ExAC_AMR=0.0944;ExAC_EAS=0.0026;ExAC_FIN=0.2383;ExAC_NFE=0.2431;ExAC_OTH=0.1815;ExAC_SAS=0.0687;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,17:24:99:532,0,220 1 1469546 rs3128344 G A 1874.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.87;QD=32.32;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3A;Func=UTR3;Gene=NM_001170535,NM_001170536,NM_018188;GeneDetail=NM_001170535:c.*94G>A\x3bNM_001170536:c.*94G>A\x3bNM_018188:c.*94G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378756.7,ENST00000378755.9,ENST00000536055.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1464079;Repeat=.;avsnp150=rs3128344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.8372;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1903,172,0 1 1469598 rs9439464 C G 295.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.231;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.67;MQRankSum=-4.406;QD=7.39;ReadPosRankSum=-0.876;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3A;Func=UTR3;Gene=NM_001170535,NM_001170536,NM_018188;GeneDetail=NM_001170535:c.*146C>G\x3bNM_001170536:c.*146C>G\x3bNM_018188:c.*146C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536055.5,ENST00000378756.7,ENST00000378755.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1464079;Repeat=.;avsnp150=rs9439464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.857;1000g2015aug_amr=0.5634;1000g2015aug_all=0.720647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,10:40:99:324,0,1284 1 1469599 rs3128343 G C 295.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.666;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.54;MQRankSum=-4.368;QD=7.04;ReadPosRankSum=-0.606;SOR=0.65;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATAD3A;Func=UTR3;Gene=NM_001170535,NM_001170536,NM_018188;GeneDetail=NM_001170535:c.*147G>C\x3bNM_001170536:c.*147G>C\x3bNM_018188:c.*147G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536055.5,ENST00000378755.9,ENST00000378756.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.905283\x3bName\x3echr1:1464079;Repeat=.;avsnp150=rs3128343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.5634;1000g2015aug_all=0.722045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,10:42:99:324,0,1284 1 1502457 . C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSU72;Func=intronic;Gene=NM_014188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000291386.3,ENST00000359060.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1509825 rs6666293 A G 976.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.091;DP=79;ExcessHet=3.0103;FS=0.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.305;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSU72;Func=intronic;Gene=NM_014188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359060.5,ENST00000291386.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.9274;1000g2015aug_amr=0.5591;1000g2015aug_all=0.701278;esp6500siv2_all=0.4810;ExAC_ALL=0.5290;ExAC_AFR=0.8596;ExAC_AMR=0.6298;ExAC_EAS=0.8906;ExAC_FIN=0.4292;ExAC_NFE=0.3506;ExAC_OTH=0.4891;ExAC_SAS=0.6839;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,37:78:99:1005,0,1129 1 1510801 rs7519837 C T 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.157;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=-0.533;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_014188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366221.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e270\x3bName\x3e"2427:L2(LINE)";avsnp150=rs7519837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.327;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.5562;1000g2015aug_all=0.695687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,15:18:72:365,0,72 1 1531829 rs111063478 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014188,NM_001242659;GeneDetail=dist\x3e21567\x3bdist\x3e1559;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111063478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.3458;1000g2015aug_all=0.308107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 1534614 rs11552172 T C 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.18;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf233;Func=UTR3;Gene=NM_001242659;GeneDetail=NM_001242659:c.*101A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422725.3;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11552172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.1959;1000g2015aug_amr=0.3386;1000g2015aug_all=0.278155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,226 1 1552097 rs28502067 G A 1885.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.947;DP=156;ExcessHet=3.0103;FS=1.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.348;SOR=0.557;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518681.5,ENST00000504599.5,ENST00000505820.6,ENST00000355826.9,ENST00000520777.5,ENST00000378712.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28502067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0187;1000g2015aug_all=0.052516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,72:156:99:1914,0,2180 1 1558792 rs12755088 T C 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.367;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0.228;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=exonic;Gene=NM_001170686,NM_001170688,NM_080875;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T;Gencode=Name\x3eENST00000504599.5,ENST00000518681.5,ENST00000505820.6,ENST00000378708.5,ENST00000355826.9,ENST00000520777.5,ENST00000378712.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12755088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.8674;1000g2015aug_all=0.773562;esp6500siv2_all=0.8856;ExAC_ALL=0.8797;ExAC_AFR=0.7673;ExAC_AMR=0.8125;ExAC_EAS=0.6241;ExAC_FIN=0.9004;ExAC_NFE=0.9411;ExAC_OTH=0.9115;ExAC_SAS=0.8605;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.135;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.36;FATHMM_pred=T;phyloP100way_vertebrate=-0.194;phyloP20way_mammalian=-1.025;SiPhy_29way_logOdds=4.729;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:171,0,263 1 1559971 rs12748433 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378712.5,ENST00000504599.5,ENST00000518681.5,ENST00000355826.9,ENST00000378708.5,ENST00000505820.6,ENST00000520777.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12748433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7093;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.8516;1000g2015aug_all=0.813498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 1560103 rs28635343 C T 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.287;DP=45;ExcessHet=3.0103;FS=4.742;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=0.141;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378712.5,ENST00000520777.5,ENST00000378708.5,ENST00000505820.6,ENST00000355826.9,ENST00000504599.5,ENST00000518681.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28635343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.168;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.2954;1000g2015aug_all=0.240415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,17:45:99:321,0,796 1 1562437 rs28510084 C G 833.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.061;DP=53;ExcessHet=3.0103;FS=10.652;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.748;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000520777.5,ENST00000378708.5,ENST00000505820.6,ENST00000355826.9,ENST00000518681.5,ENST00000504599.5,ENST00000378712.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28510084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4193;1000g2015aug_all=0.440495;esp6500siv2_all=0.3360;ExAC_ALL=0.3586;ExAC_AFR=0.6479;ExAC_AMR=0.5078;ExAC_EAS=0.3846;ExAC_FIN=0.2617;ExAC_NFE=0.2590;ExAC_OTH=0.3392;ExAC_SAS=0.4532;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,27:53:99:862,0,834 1 1562536 rs11544452 G A 1284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.475;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.361;SOR=0.861;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=exonic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MIB2:NM_001170688:exon10:c.G1473A:p.A491A,MIB2:NM_001170689:exon10:c.G1128A:p.A376A,MIB2:NM_001170686:exon11:c.G1656A:p.A552A,MIB2:NM_001170687:exon11:c.G1626A:p.A542A,MIB2:NM_080875:exon11:c.G1668A:p.A556A;Gencode=Name\x3eENST00000520777.5,ENST00000378708.5,ENST00000355826.9,ENST00000505820.6,ENST00000504599.5,ENST00000518681.5,ENST00000378712.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11544452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.2896;1000g2015aug_all=0.141174;esp6500siv2_all=0.0905;ExAC_ALL=0.1822;ExAC_AFR=0.0339;ExAC_AMR=0.4245;ExAC_EAS=0.2458;ExAC_FIN=0.1998;ExAC_NFE=0.1552;ExAC_OTH=0.1748;ExAC_SAS=0.1915;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,41:61:99:1313,0,567 1 1562895 rs12735861 C T 788.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378712.5,ENST00000520777.5,ENST00000378708.5,ENST00000355826.9,ENST00000505820.6,ENST00000504599.5,ENST00000518681.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12735861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.3661;1000g2015aug_amr=0.6527;1000g2015aug_all=0.548323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:817,63,0 1 1564712 rs61774907 G T 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.32;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.578;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIB2;Func=intronic;Gene=NM_001170686,NM_001170687,NM_001170688,NM_001170689,NM_080875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378712.5,ENST00000520777.5,ENST00000378708.5,ENST00000355826.9,ENST00000505820.6,ENST00000504599.5,ENST00000518681.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61774907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.2939;1000g2015aug_all=0.220647;esp6500siv2_all=0.2238;ExAC_ALL=0.4143;ExAC_AFR=0.1247;ExAC_AMR=0.3873;ExAC_EAS=0.3334;ExAC_FIN=0.5123;ExAC_NFE=0.4542;ExAC_OTH=0.3789;ExAC_SAS=0.3712;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,7:26:99:202,0,777 1 1574019 rs9442412 A G 509.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.418;DP=42;ExcessHet=3.0103;FS=2.756;MLEAC=1;MLEAF=0.5;MQ=45.7;MQRankSum=0.967;QD=12.14;ReadPosRankSum=-0.897;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000407249.7,ENST00000626918.2,ENST00000618459.4,ENST00000341832.10,ENST00000340677.9,ENST00000629289.2,ENST00000317673.8,ENST00000412810.6,ENST00000629312.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=.;avsnp150=rs9442412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.3012;1000g2015aug_all=0.216853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,23:42:99:538,0,433 1 1574076 rs9442413 G A 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.453;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=53.44;MQRankSum=2.548;QD=13.89;ReadPosRankSum=1.197;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629289.2,ENST00000340677.9,ENST00000629312.2,ENST00000412810.6,ENST00000317673.8,ENST00000626918.2,ENST00000407249.7,ENST00000341832.10,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=.;avsnp150=rs9442413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:320,0,367 1 1575836 rs72468213 C G 517.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.847;DP=120;ExcessHet=3.0103;FS=9.95;MLEAC=1;MLEAF=0.5;MQ=41.81;MQRankSum=-2.147;QD=4.31;ReadPosRankSum=1.684;SOR=1.261;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412810.6,ENST00000317673.8,ENST00000629312.2,ENST00000340677.9,ENST00000629289.2,ENST00000341832.10,ENST00000618459.4,ENST00000407249.7,ENST00000626918.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=.;avsnp150=rs72468213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4013;ExAC_AFR=0.4089;ExAC_AMR=0.3803;ExAC_EAS=0.3413;ExAC_FIN=0.4192;ExAC_NFE=0.4107;ExAC_OTH=0.3858;ExAC_SAS=0.3987;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,33:120:99:546,0,2280 1 1580738 rs4648767 T A 1702.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.724;DP=123;ExcessHet=3.0103;FS=2.557;MLEAC=1;MLEAF=0.5;MQ=43.48;MQRankSum=-0.799;QD=13.84;ReadPosRankSum=0.239;SOR=0.469;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000407249.7,ENST00000626918.2,ENST00000341832.10,ENST00000618459.4,ENST00000340677.9,ENST00000629289.2,ENST00000412810.6,ENST00000317673.8,ENST00000629312.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2298\x3bName\x3e"2561:AluSg(SINE)";avsnp150=rs4648767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4097;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.143;1000g2015aug_amr=0.4683;1000g2015aug_all=0.366214;esp6500siv2_all=.;ExAC_ALL=0.4710;ExAC_AFR=0.2516;ExAC_AMR=0.4880;ExAC_EAS=0.4755;ExAC_FIN=0.4989;ExAC_NFE=0.4953;ExAC_OTH=0.4855;ExAC_SAS=0.4572;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,72:123:99:1731,0,1183 1 1580784 rs549062931 G A 525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.658;DP=51;ExcessHet=3.0103;FS=1.936;MLEAC=1;MLEAF=0.5;MQ=41.37;MQRankSum=-0.254;QD=10.31;ReadPosRankSum=0.666;SOR=0.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341832.10,ENST00000618459.4,ENST00000626918.2,ENST00000407249.7,ENST00000629312.2,ENST00000412810.6,ENST00000317673.8,ENST00000629289.2,ENST00000340677.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2298\x3bName\x3e"2561:AluSg(SINE)";avsnp150=rs549062931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0173;1000g2015aug_all=0.01877;esp6500siv2_all=.;ExAC_ALL=0.0442;ExAC_AFR=0.0110;ExAC_AMR=0.0514;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0522;ExAC_OTH=0.0463;ExAC_SAS=0.0455;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:554,0,1003 1 1581713 rs76922129 A G 57.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.89;DP=17;ExcessHet=3.0103;FS=5.842;MLEAC=1;MLEAF=0.5;MQ=54.17;MQRankSum=-3.393;QD=3.4;ReadPosRankSum=-0.057;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000407249.7,ENST00000626918.2,ENST00000618459.4,ENST00000341832.10,ENST00000340677.9,ENST00000629289.2,ENST00000317673.8,ENST00000412810.6,ENST00000629312.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs76922129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:86:86,0,377 1 1581759 rs61774915 G A 439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.697;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.66;MQRankSum=-4.126;QD=10.99;ReadPosRankSum=-1.793;SOR=0.782;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412810.6,ENST00000317673.8,ENST00000629312.2,ENST00000340677.9,ENST00000629289.2,ENST00000341832.10,ENST00000618459.4,ENST00000407249.7,ENST00000626918.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs61774915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,17:40:99:468,0,658 1 1581881 rs61774916 T C 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.931;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.8;MQRankSum=-3.278;QD=4.46;ReadPosRankSum=-0.189;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341832.10,ENST00000618459.4,ENST00000626918.2,ENST00000407249.7,ENST00000629312.2,ENST00000412810.6,ENST00000317673.8,ENST00000629289.2,ENST00000340677.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs61774916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,14:56:99:278,0,1157 1 1581926 rs61774917 G T 453.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.309;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.1;MQRankSum=-4.173;QD=13.35;ReadPosRankSum=-1.139;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629289.2,ENST00000340677.9,ENST00000629312.2,ENST00000412810.6,ENST00000317673.8,ENST00000626918.2,ENST00000407249.7,ENST00000341832.10,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs61774917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:482,0,599 1 1581958 rs200481124 T C 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.615;DP=31;ExcessHet=3.0103;FS=1.561;MLEAC=1;MLEAF=0.5;MQ=48.02;MQRankSum=-1.708;QD=6.35;ReadPosRankSum=0.677;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000412810.6,ENST00000629312.2,ENST00000340677.9,ENST00000629289.2,ENST00000618459.4,ENST00000341832.10,ENST00000407249.7,ENST00000626918.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs200481124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,8:31:99:225,0,729 1 1582202 rs61774918 C T 1455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.403;DP=115;ExcessHet=3.0103;FS=4.534;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-0.181;QD=12.66;ReadPosRankSum=1.477;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000407249.7,ENST00000626918.2,ENST00000341832.10,ENST00000618459.4,ENST00000340677.9,ENST00000629289.2,ENST00000412810.6,ENST00000317673.8,ENST00000629312.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2209\x3bName\x3e"2564:L1M4a2(LINE)";avsnp150=rs61774918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.4841;1000g2015aug_all=0.440296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,57:115:99:1484,0,1419 1 1582841 rs61774920 A G 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.497;DP=40;ExcessHet=3.0103;FS=1.639;MLEAC=1;MLEAF=0.5;MQ=45.96;MQRankSum=0.506;QD=4.35;ReadPosRankSum=-0.604;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340677.9,ENST00000629289.2,ENST00000412810.6,ENST00000317673.8,ENST00000629312.2,ENST00000407249.7,ENST00000626918.2,ENST00000341832.10,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e1380\x3bName\x3e"2565:L1M4a2(LINE)";avsnp150=rs61774920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,7:39:99:198,0,1399 1 1582844 rs61774921 G T 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.382;DP=40;ExcessHet=3.0103;FS=1.639;MLEAC=1;MLEAF=0.5;MQ=45.96;MQRankSum=0.506;QD=4.35;ReadPosRankSum=-0.916;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629312.2,ENST00000317673.8,ENST00000412810.6,ENST00000629289.2,ENST00000340677.9,ENST00000618459.4,ENST00000341832.10,ENST00000626918.2,ENST00000407249.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e1380\x3bName\x3e"2565:L1M4a2(LINE)";avsnp150=rs61774921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,7:39:99:198,0,1399 1 1583601 rs142739440 G C 369.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.675;DP=36;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=57.65;MQRankSum=1.684;QD=10.27;ReadPosRankSum=-0.856;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11B;Func=intronic;Gene=NM_001291345,NM_001787,NM_033486,NM_033487,NM_033489,NM_033490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340677.9,ENST00000629289.2,ENST00000412810.6,ENST00000317673.8,ENST00000629312.2,ENST00000407249.7,ENST00000626918.2,ENST00000341832.10,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=.;avsnp150=rs142739440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,17:36:99:398,0,508 1 1591779 rs71630936 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.8;MQRankSum=-0.842;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291345,NM_001110781;GeneDetail=dist\x3e1221\x3bdist\x3e1160;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618459.4,ENST00000614300.4,ENST00000412810.6,ENST00000317673.8,ENST00000607013.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e2249\x3bName\x3e"2597:AluY(SINE)";avsnp150=rs71630936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 1595538 rs6700227 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.57;MQRankSum=-1.645;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=UTR3;Gene=NM_001110781,NM_001290264;GeneDetail=NM_001110781:c.*1683A>G\x3bNM_001290264:c.*1683A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611123.1,ENST00000618459.4,ENST00000412810.6,ENST00000317673.8,ENST00000614300.4,ENST00000617444.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1699616;Repeat=Score\x3e1677\x3bName\x3e"2602:AluJo(SINE)";avsnp150=rs6700227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 1599888 rs2072923 A G 1142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.308;DP=88;ExcessHet=3.0103;FS=15.045;MLEAC=1;MLEAF=0.5;MQ=42.14;MQRankSum=6.795;QD=12.99;ReadPosRankSum=-0.021;SOR=1.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=exonic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC35E2B:NM_001110781:exon8:c.T858C:p.S286S,SLC35E2B:NM_001290264:exon9:c.T858C:p.S286S;Gencode=Name\x3eENST00000611123.1,ENST00000618459.4,ENST00000412810.6,ENST00000317673.8,ENST00000614300.4,ENST00000617444.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs2072923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5105;ExAC_AFR=0.7351;ExAC_AMR=0.4896;ExAC_EAS=0.4662;ExAC_FIN=0.5003;ExAC_NFE=0.4908;ExAC_OTH=0.4955;ExAC_SAS=0.5048;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.521;phyloP20way_mammalian=-1.762;SiPhy_29way_logOdds=16.230;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,39:88:99:1171,0,1047 1 1599940 rs61776767 C T 327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.428;DP=61;ExcessHet=3.0103;FS=5.789;MLEAC=1;MLEAF=0.5;MQ=49.17;MQRankSum=-5.959;QD=5.37;ReadPosRankSum=-0.67;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614300.4,ENST00000617444.4,ENST00000412810.6,ENST00000317673.8,ENST00000618459.4,ENST00000611123.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs61776767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2179;ExAC_AFR=0.0360;ExAC_AMR=0.1969;ExAC_EAS=0.1348;ExAC_FIN=0.2427;ExAC_NFE=0.2734;ExAC_OTH=0.2288;ExAC_SAS=0.1855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,19:61:99:356,0,1276 1 1599974 rs113499489 A C 97.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.184;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.77;MQRankSum=-5.685;QD=2;ReadPosRankSum=-0.012;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611123.1,ENST00000618459.4,ENST00000617444.4,ENST00000614300.4,ENST00000317673.8,ENST00000412810.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs113499489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,10:49:99:126,0,1216 1 1602536 rs4648609 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617444.4,ENST00000614300.4,ENST00000317673.8,ENST00000412810.6,ENST00000618459.4,ENST00000611123.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs4648609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.7608;1000g2015aug_all=0.606629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1602587 rs4233029 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611123.1,ENST00000618459.4,ENST00000317673.8,ENST00000412810.6,ENST00000617444.4,ENST00000614300.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs4233029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.503;1000g2015aug_amr=0.7608;1000g2015aug_all=0.608427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 1602787 rs4639697 G T 1383.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.154;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614300.4,ENST00000617444.4,ENST00000412810.6,ENST00000317673.8,ENST00000611123.1,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs4639697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1412,135,0 1 1603236 rs11523819 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2B;Func=intronic;Gene=NM_001110781,NM_001290264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614300.4,ENST00000617444.4,ENST00000412810.6,ENST00000317673.8,ENST00000611123.1,ENST00000618459.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1733195;Repeat=.;avsnp150=rs11523819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.062;1000g2015aug_amr=0.3343;1000g2015aug_all=0.231629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 1635004 rs874516 T C 2352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.667;DP=240;ExcessHet=3.0103;FS=1.004;MLEAC=1;MLEAF=0.5;MQ=57.66;MQRankSum=-4.388;QD=9.8;ReadPosRankSum=-0.805;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK11A:NM_001313896:exon18:c.A1980G:p.K660K,CDK11A:NM_001313982:exon18:c.A1968G:p.K656K,CDK11A:NM_024011:exon18:c.A1971G:p.K657K,CDK11A:NM_033529:exon18:c.A1941G:p.K647K;Gencode=Name\x3eENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs874516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.916;1000g2015aug_amr=0.5014;1000g2015aug_all=0.592252;esp6500siv2_all=0.6241;ExAC_ALL=0.5805;ExAC_AFR=0.7960;ExAC_AMR=0.5390;ExAC_EAS=0.3821;ExAC_FIN=0.6059;ExAC_NFE=0.6065;ExAC_OTH=0.5767;ExAC_SAS=0.5055;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:142,98:240:99:2381,0,3742 1 1635619 rs2076329 T C 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.55;MQRankSum=-1.143;QD=9.39;ReadPosRankSum=0.5;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000356200.7,ENST00000378638.6,ENST00000357760.6,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs2076329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.5591;1000g2015aug_all=0.646965;esp6500siv2_all=0.6880;ExAC_ALL=0.6106;ExAC_AFR=0.8989;ExAC_AMR=0.5485;ExAC_EAS=0.4601;ExAC_FIN=0.6119;ExAC_NFE=0.6035;ExAC_OTH=0.5943;ExAC_SAS=0.5896;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:263,0,374 1 1635749 rs1136997 C A 453.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.817;DP=39;ExcessHet=3.0103;FS=4.879;MLEAC=1;MLEAF=0.5;MQ=56.31;MQRankSum=-2.271;QD=11.64;ReadPosRankSum=1.006;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK11A:NM_001313896:exon15:c.G1608T:p.R536R,CDK11A:NM_001313982:exon15:c.G1596T:p.R532R,CDK11A:NM_024011:exon15:c.G1599T:p.R533R,CDK11A:NM_033529:exon15:c.G1569T:p.R523R;Gencode=Name\x3eENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1136997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.407;1000g2015aug_amr=0.4553;1000g2015aug_all=0.397564;esp6500siv2_all=0.4715;ExAC_ALL=0.4717;ExAC_AFR=0.4187;ExAC_AMR=0.4146;ExAC_EAS=0.2278;ExAC_FIN=0.5238;ExAC_NFE=0.5432;ExAC_OTH=0.4849;ExAC_SAS=0.3641;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,17:39:99:482,0,619 1 1636044 rs1059822 G A 1945.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.519;DP=150;ExcessHet=3.0103;FS=4.878;MLEAC=1;MLEAF=0.5;MQ=52.04;MQRankSum=-6.255;QD=13.06;ReadPosRankSum=0.009;SOR=0.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK11A:NM_001313896:exon14:c.C1518T:p.Y506Y,CDK11A:NM_001313982:exon14:c.C1506T:p.Y502Y,CDK11A:NM_024011:exon14:c.C1509T:p.Y503Y,CDK11A:NM_033529:exon14:c.C1479T:p.Y493Y;Gencode=Name\x3eENST00000317673.8,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000356200.7,ENST00000357760.6,ENST00000378638.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1059822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4643;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.562;1000g2015aug_all=0.647963;esp6500siv2_all=0.6633;ExAC_ALL=0.5644;ExAC_AFR=0.8819;ExAC_AMR=0.4866;ExAC_EAS=0.3992;ExAC_FIN=0.5724;ExAC_NFE=0.5609;ExAC_OTH=0.5413;ExAC_SAS=0.5600;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,72:149:99:1974,0,2221 1 1636274 rs2179381 C T 810.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.931;DP=65;ExcessHet=3.0103;FS=0.97;MLEAC=1;MLEAF=0.5;MQ=55.86;MQRankSum=-5.329;QD=12.47;ReadPosRankSum=-0.426;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs2179381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.0688;1000g2015aug_amr=0.4251;1000g2015aug_all=0.296725;esp6500siv2_all=.;ExAC_ALL=0.4460;ExAC_AFR=0.1320;ExAC_AMR=0.4048;ExAC_EAS=0.2228;ExAC_FIN=0.5046;ExAC_NFE=0.5434;ExAC_OTH=0.4628;ExAC_SAS=0.3576;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,27:65:99:839,0,1214 1 1636355 rs1136999 A G 926.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.104;DP=100;ExcessHet=3.0103;FS=0.769;MLEAC=1;MLEAF=0.5;MQ=50.26;MQRankSum=-9.153;QD=9.27;ReadPosRankSum=-0.386;SOR=0.594;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK11A:NM_001313896:exon13:c.T1455C:p.I485I,CDK11A:NM_001313982:exon13:c.T1443C:p.I481I,CDK11A:NM_024011:exon13:c.T1446C:p.I482I,CDK11A:NM_033529:exon13:c.T1416C:p.I472I;Gencode=Name\x3eENST00000317673.8,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1136999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0277;ExAC_AFR=0.1664;ExAC_AMR=0.0153;ExAC_EAS=0.0358;ExAC_FIN=0.0062;ExAC_NFE=0.0118;ExAC_OTH=0.0114;ExAC_SAS=0.0337;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,41:100:99:955,0,1626 1 1645050 rs77869096 C T 59.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.67;QD=19.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000598846.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e2315\x3bName\x3e"2708:L1M4a1(LINE)";avsnp150=rs77869096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:87,9,0 1 1646371 rs61776850 G T 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=17;ExcessHet=3.0103;FS=8.82;MLEAC=1;MLEAF=0.5;MQ=53.77;MQRankSum=-0.834;QD=14.87;ReadPosRankSum=-0.516;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000356200.7,ENST00000357760.6,ENST00000378638.6,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e1061\x3bName\x3e"2710:L1M4a1(LINE)";avsnp150=rs61776850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.4524;1000g2015aug_all=0.402756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:281,0,200 1 1646427 rs61776851 T G 381.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.08;QD=34.71;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357760.6,ENST00000378638.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e1061\x3bName\x3e"2710:L1M4a1(LINE)";avsnp150=rs61776851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.772;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.8689;1000g2015aug_all=0.736022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:410,33,0 1 1646450 rs3820004 G A 222.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.81;QD=27.85;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000598846.1,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e1061\x3bName\x3e"2710:L1M4a1(LINE)";avsnp150=rs3820004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.772;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.8689;1000g2015aug_all=0.735823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:251,24,0 1 1646574 rs760925 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000356200.7,ENST00000378638.6,ENST00000357760.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e1061\x3bName\x3e"2710:L1M4a1(LINE)";avsnp150=rs760925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.879;1000g2015aug_all=0.748802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1647686 rs909823 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356200.7,ENST00000357760.6,ENST00000378638.6,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs909823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.5113;1000g2015aug_amr=0.8804;1000g2015aug_all=0.751997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1647928 rs1883424 A G 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.824;DP=21;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=59.45;MQRankSum=0;QD=13.04;ReadPosRankSum=0.983;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000356200.7,ENST00000378638.6,ENST00000357760.6,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1883424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.4366;1000g2015aug_all=0.347444;esp6500siv2_all=.;ExAC_ALL=0.2984;ExAC_AFR=0.0838;ExAC_AMR=0.3414;ExAC_EAS=0.3908;ExAC_FIN=0.3112;ExAC_NFE=0.3064;ExAC_OTH=0.3092;ExAC_SAS=0.3102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:289,0,221 1 1648027 rs61776857 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356200.7,ENST00000357760.6,ENST00000378638.6,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e2581\x3bName\x3e"2713:AluSx1(SINE)";avsnp150=rs61776857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.8876;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1650807 rs1137005 T C 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R;Gencode=Name\x3eENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000356200.7,ENST00000357760.6,ENST00000378638.6,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1137005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.879;1000g2015aug_all=0.747404;esp6500siv2_all=.;ExAC_ALL=0.4784;ExAC_AFR=0.3893;ExAC_AMR=0.4877;ExAC_EAS=0.4648;ExAC_FIN=0.4958;ExAC_NFE=0.4943;ExAC_OTH=0.4844;ExAC_SAS=0.4599;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 1650845 rs1059831 G A 826.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=exonic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W;Gencode=Name\x3eENST00000317673.8,ENST00000598846.1,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs1059831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.879;1000g2015aug_all=0.747404;esp6500siv2_all=0.4496;ExAC_ALL=0.4784;ExAC_AFR=0.3893;ExAC_AMR=0.4877;ExAC_EAS=0.4649;ExAC_FIN=0.4958;ExAC_NFE=0.4943;ExAC_OTH=0.4844;ExAC_SAS=0.4599;SIFT_score=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.097;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.082;LRT_pred=U;MutationTaster_score=0.963;MutationTaster_pred=D;MutationAssessor_score=2.005;MutationAssessor_pred=M;FATHMM_score=3.3;FATHMM_pred=T;phyloP100way_vertebrate=6.251;phyloP20way_mammalian=0.697;SiPhy_29way_logOdds=17.983;gerp++gt2=5.3;CADD=7.599;CADD_Phred=34;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:855,75,0 1 1651901 rs4648772 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000357760.6,ENST00000378638.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e2200\x3bName\x3e"2718:AluSg(SINE)";avsnp150=rs4648772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.8977;1000g2015aug_all=0.809704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1651911 rs4648773 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357760.6,ENST00000378638.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5,ENST00000317673.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e2200\x3bName\x3e"2718:AluSg(SINE)";avsnp150=rs4648773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.8775;1000g2015aug_all=0.748203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1653004 rs36039898 T C 1657.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.67;QD=34.54;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000598846.1,ENST00000356200.7,ENST00000378638.6,ENST00000357760.6,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs36039898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.879;1000g2015aug_all=0.747404;esp6500siv2_all=0.8085;ExAC_ALL=0.8485;ExAC_AFR=0.5395;ExAC_AMR=0.8684;ExAC_EAS=0.7633;ExAC_FIN=0.8896;ExAC_NFE=0.9242;ExAC_OTH=0.8841;ExAC_SAS=0.7479;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1686,144,0 1 1653028 rs16825265 C T 1856.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.26;QD=31.47;SOR=1.123;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000357760.6,ENST00000378638.6,ENST00000356200.7,ENST00000598846.1,ENST00000358779.9,ENST00000404249.7,ENST00000378633.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs16825265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.879;1000g2015aug_all=0.747404;esp6500siv2_all=0.8128;ExAC_ALL=0.8549;ExAC_AFR=0.5477;ExAC_AMR=0.8759;ExAC_EAS=0.7701;ExAC_FIN=0.8928;ExAC_NFE=0.9280;ExAC_OTH=0.8920;ExAC_SAS=0.7554;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1885,177,0 1 1653303 rs35548050 T C 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.78;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK11A;Func=intronic;Gene=NM_001313896,NM_001313982,NM_024011,NM_033529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317673.8,ENST00000378633.5,ENST00000404249.7,ENST00000358779.9,ENST00000598846.1,ENST00000378638.6,ENST00000357760.6,ENST00000356200.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs35548050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.879;1000g2015aug_all=0.747804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 1657021 rs9439499 T C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.18;QD=33.11;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=Score\x3e2243\x3bName\x3e"2730:AluY(SINE)";avsnp150=rs9439499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 1661704 rs710322 A G 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.693;DP=63;ExcessHet=3.0103;FS=6.842;MLEAC=1;MLEAF=0.5;MQ=50.4;MQRankSum=-5.429;QD=2.52;ReadPosRankSum=2.198;SOR=1.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*2190T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs710322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.059;1000g2015aug_amr=0.4827;1000g2015aug_all=0.278754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,12:63:99:187,0,1348 1 1661844 rs61777505 G C 1305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.06;DP=103;ExcessHet=3.0103;FS=0.734;MLEAC=1;MLEAF=0.5;MQ=41.49;MQRankSum=0.702;QD=12.68;ReadPosRankSum=-0.489;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*2050C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000598846.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.971027\x3bName\x3echr1:1632457;Repeat=.;avsnp150=rs61777505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.2939;1000g2015aug_all=0.275359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,54:103:99:1334,0,1113 1 1663605 rs66653340 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*289T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1827\x3bName\x3e"2744:AluSz6(SINE)";avsnp150=rs66653340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.8401;1000g2015aug_all=0.70028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1663831 rs3817856 C T 1395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.855;DP=114;ExcessHet=3.0103;FS=7.461;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.437;SOR=1.415;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*63G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000598846.1,ENST00000246421.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3817856;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.3069;1000g2015aug_all=0.285942;esp6500siv2_all=0.4006;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,54:113:99:1424,0,2250 1 1663851 rs2294486 G C 2352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.025;DP=120;ExcessHet=3.0103;FS=8.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=-0.65;SOR=0.288;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*43C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000598846.1,ENST00000246421.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.5115;1000g2015aug_all=0.301118;esp6500siv2_all=0.3050;ExAC_ALL=0.4044;ExAC_AFR=0.1042;ExAC_AMR=0.5917;ExAC_EAS=0.3950;ExAC_FIN=0.4658;ExAC_NFE=0.4439;ExAC_OTH=0.4302;ExAC_SAS=0.3353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,63:119:99:2381,0,2198 1 1663861 rs2294487 G A 2214.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.367;DP=110;ExcessHet=3.0103;FS=0.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=0.076;SOR=0.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=UTR3;Gene=NM_182838;GeneDetail=NM_182838:c.*33C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000246421.4,ENST00000598846.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.513;1000g2015aug_all=0.301118;esp6500siv2_all=0.3060;ExAC_ALL=0.4313;ExAC_AFR=0.1188;ExAC_AMR=0.6155;ExAC_EAS=0.4142;ExAC_FIN=0.4891;ExAC_NFE=0.4663;ExAC_OTH=0.4477;ExAC_SAS=0.3491;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,57:109:99:2243,0,2127 1 1664019 rs2294488 T C 2987.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=1.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000598846.1,ENST00000246421.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.8386;1000g2015aug_all=0.686901;esp6500siv2_all=0.7982;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:3016,270,0 1 1664124 rs2294489 T C 1516.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000246421.4,ENST00000598846.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.8213;1000g2015aug_all=0.590855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1545,129,0 1 1666303 rs114928632 T C 87.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.411;DP=38;ExcessHet=3.0103;FS=11.279;MLEAC=1;MLEAF=0.5;MQ=43.74;MQRankSum=-2.939;QD=2.31;ReadPosRankSum=-2.864;SOR=3.334;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000598846.1,ENST00000246421.4,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1666823;Repeat=.;avsnp150=rs114928632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.1316;ExAC_AFR=0.0605;ExAC_AMR=0.1261;ExAC_EAS=0.0713;ExAC_FIN=0.0989;ExAC_NFE=0.1773;ExAC_OTH=0.1061;ExAC_SAS=0.0744;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,7:38:99:116,0,756 1 1666338 rs2072924 G A 789.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.82;QD=29.25;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355439.6,ENST00000246421.4,ENST00000598846.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1666823;Repeat=.;avsnp150=rs2072924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.8213;1000g2015aug_all=0.585064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:818,81,0 1 1669734 rs61777512 G T 456.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.709;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.18;MQRankSum=6.124;QD=9.93;ReadPosRankSum=0.377;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246421.4,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1666823;Repeat=.;avsnp150=rs61777512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.3127;1000g2015aug_all=0.288339;esp6500siv2_all=0.3852;ExAC_ALL=0.4676;ExAC_AFR=0.1550;ExAC_AMR=0.3481;ExAC_EAS=0.3120;ExAC_FIN=0.5079;ExAC_NFE=0.5622;ExAC_OTH=0.4810;ExAC_SAS=0.3871;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:485,0,992 1 1669748 rs4648615 A G 727.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.454;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.2;MQRankSum=-5.306;QD=14.85;ReadPosRankSum=-0.774;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35E2;Func=intronic;Gene=NM_001199787,NM_182838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246421.4,ENST00000355439.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=Score\x3e0.976083\x3bName\x3echr1:1666823;Repeat=.;avsnp150=rs4648615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.5159;1000g2015aug_all=0.304712;esp6500siv2_all=0.2983;ExAC_ALL=0.3838;ExAC_AFR=0.1085;ExAC_AMR=0.5652;ExAC_EAS=0.3505;ExAC_FIN=0.4193;ExAC_NFE=0.4060;ExAC_OTH=0.4047;ExAC_SAS=0.3258;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,27:49:99:756,0,819 1 1684169 rs7796 C G 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-0.078;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=UTR3;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=NM_001198993:c.*174G>C\x3bNM_001198994:c.*174G>C\x3bNM_001198995:c.*174G>C\x3bNM_023018:c.*174G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.5591;1000g2015aug_all=0.326278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 1684472 rs7407 C T 783.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.977;DP=45;ExcessHet=3.0103;FS=1.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.048;SOR=0.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=exonic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NADK:NM_001198995:exon10:c.G1116A:p.P372P,NADK:NM_001198993:exon12:c.G1212A:p.P404P,NADK:NM_023018:exon12:c.G1212A:p.P404P,NADK:NM_001198994:exon14:c.G1647A:p.P549P;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.505;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.5634;1000g2015aug_all=0.339657;esp6500siv2_all=0.3812;ExAC_ALL=0.4650;ExAC_AFR=0.1311;ExAC_AMR=0.6096;ExAC_EAS=0.3703;ExAC_FIN=0.5404;ExAC_NFE=0.5103;ExAC_OTH=0.4858;ExAC_SAS=0.3946;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,30:45:99:812,0,374 1 1684758 rs2072926 G A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.5605;1000g2015aug_all=0.326278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 1684800 rs2072927 G A 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.615;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.064;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.5591;1000g2015aug_all=0.326078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:221,0,212 1 1685213 rs2072928 C G 1198.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=2.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.682;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.8487;1000g2015aug_all=0.70607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1227,93,0 1 1686040 rs4751 G T 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.724;DP=107;ExcessHet=3.0103;FS=3.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.887;SOR=0.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=exonic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.2651;1000g2015aug_all=0.249401;esp6500siv2_all=0.3175;ExAC_ALL=0.3564;ExAC_AFR=0.0973;ExAC_AMR=0.2580;ExAC_EAS=0.2600;ExAC_FIN=0.3780;ExAC_NFE=0.4307;ExAC_OTH=0.3789;ExAC_SAS=0.3291;SIFT_score=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.562;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.229;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.967;MutationTaster_pred=P;MutationAssessor_score=1.075;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_pred=T;phyloP100way_vertebrate=-1.130;phyloP20way_mammalian=-1.814;SiPhy_29way_logOdds=13.146;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,45:107:99:1093,0,1721 1 1686943 rs2072929 T C 847.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.208;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.848;SOR=0.81;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.364;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.3415;1000g2015aug_all=0.353235;esp6500siv2_all=0.4192;ExAC_ALL=0.4328;ExAC_AFR=0.2940;ExAC_AMR=0.3486;ExAC_EAS=0.2990;ExAC_FIN=0.4754;ExAC_NFE=0.4930;ExAC_OTH=0.4621;ExAC_SAS=0.3867;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,26:71:99:876,0,2446 1 1686962 rs2076327 C T 622.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.678;DP=59;ExcessHet=3.0103;FS=1.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.146;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.493;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.4078;1000g2015aug_all=0.341853;esp6500siv2_all=0.4045;ExAC_ALL=0.4483;ExAC_AFR=0.2189;ExAC_AMR=0.4389;ExAC_EAS=0.2873;ExAC_FIN=0.4877;ExAC_NFE=0.5110;ExAC_OTH=0.4853;ExAC_SAS=0.4099;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,19:59:99:651,0,2380 1 1687482 rs2076328 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.5591;1000g2015aug_all=0.325879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1687625 rs34306661 T C 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.098;DP=21;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.247;SOR=1.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34306661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.268;1000g2015aug_all=0.284145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:328,0,252 1 1688192 rs2281173 A G 2052.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=1;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e324\x3bName\x3e"2792:MSTD(LTR)";avsnp150=rs2281173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.8314;1000g2015aug_all=0.626597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2081,194,0 1 1688384 rs79052177 G A 854.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.064;DP=87;ExcessHet=3.0103;FS=1.797;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.231;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e410\x3bName\x3e"2793:MSTD(LTR)";avsnp150=rs79052177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0271565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,38:87:99:883,0,1303 1 1688469 rs4648623 C G 932.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.682;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.8501;1000g2015aug_all=0.713658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:961,72,0 1 1688513 rs4648624 G T 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.484;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.2666;1000g2015aug_all=0.272963;esp6500siv2_all=.;ExAC_ALL=0.3919;ExAC_AFR=0.1900;ExAC_AMR=0.3302;ExAC_EAS=0.2791;ExAC_FIN=0.4848;ExAC_NFE=0.4898;ExAC_OTH=0.4545;ExAC_SAS=0.3624;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,241 1 1689762 rs2235537 T C 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.067;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=1.529;SOR=0.301;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_001198995,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.2824;1000g2015aug_all=0.359625;esp6500siv2_all=0.4081;ExAC_ALL=0.4000;ExAC_AFR=0.3533;ExAC_AMR=0.2720;ExAC_EAS=0.3931;ExAC_FIN=0.3821;ExAC_NFE=0.4430;ExAC_OTH=0.4034;ExAC_SAS=0.3565;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:127,0,343 1 1690793 rs2235538 G A 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.196;DP=18;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.178;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341426.9,ENST00000378625.5,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.562;1000g2015aug_all=0.325479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:274,0,280 1 1691050 rs35672141 C T 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.144;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=0.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35672141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.562;1000g2015aug_all=0.343051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,16:23:99:562,0,217 1 1693726 rs17162854 A G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.175;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341991.7,ENST00000341426.9,ENST00000378625.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17162854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.5119;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.5692;1000g2015aug_all=0.366813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 1696659 rs5021859 A G 236.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNADK;Func=intronic;Gene=NM_001198993,NM_001198994,NM_023018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378625.5,ENST00000341426.9,ENST00000341991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5021859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.8703;1000g2015aug_all=0.741214;esp6500siv2_all=0.8272;ExAC_ALL=0.8622;ExAC_AFR=0.5763;ExAC_AMR=0.8902;ExAC_EAS=0.8054;ExAC_FIN=0.9132;ExAC_NFE=0.9421;ExAC_OTH=0.8905;ExAC_SAS=0.7051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:265,24,0 1 1713714 rs454577 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001198994,NM_001282539;GeneDetail=dist\x3e2206\x3bdist\x3e3010;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs454577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1762698 rs6603796 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNB1;Func=intronic;Gene=NM_001282538,NM_001282539,NM_002074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615252.4,ENST00000378609.8,ENST00000610897.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1095\x3bName\x3e"2950:AluJr(SINE)";avsnp150=rs6603796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.9193;1000g2015aug_all=0.895966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1793111 rs10907192 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNB1;Func=intronic;Gene=NM_001282538,NM_001282539,NM_002074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378609.8,ENST00000615252.4,ENST00000610897.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.8732;1000g2015aug_all=0.759984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1823524 rs3806168 G C 511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.325;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.312;SOR=0.591;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001282538,NM_001282539,NM_002074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412228.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.1081;1000g2015aug_all=0.170527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,16:25:99:540,0,267 1 1823922 rs6688000 A G 3771.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.812;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.68;ReadPosRankSum=1.516;SOR=0.252;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001282539,NM_001330313;GeneDetail=dist\x3e1366\x3bdist\x3e22344;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412228.1;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e850\x3bName\x3e"3132:L1MC4a(LINE)";avsnp150=rs6688000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.5257;1000g2015aug_amr=0.8732;1000g2015aug_all=0.765176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,111:112:99:3800,294,0 1 1846582 rs2748987 A G 642.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.849;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.09;ReadPosRankSum=0.487;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCALML6;Func=UTR5;Gene=NM_001330313,NM_138705;GeneDetail=NM_001330313:c.-138A>G\x3bNM_138705:c.-138A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307786.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.8401;1000g2015aug_all=0.84385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,20:32:99:671,0,323 1 1846765 rs2247560 G A 2354.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.734;DP=160;ExcessHet=3.0103;FS=2.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.103;SOR=0.803;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCALML6;Func=intronic;Gene=NM_001330313,NM_138705;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307786.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2247560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.5072;1000g2015aug_all=0.356629;esp6500siv2_all=0.3657;ExAC_ALL=0.4072;ExAC_AFR=0.1173;ExAC_AMR=0.5378;ExAC_EAS=0.4966;ExAC_FIN=0.6024;ExAC_NFE=0.4934;ExAC_OTH=0.4706;ExAC_SAS=0.3734;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,93:159:99:2383,0,1587 1 1847856 rs2748986 G T 1532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.692;DP=86;ExcessHet=3.0103;FS=1.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.82;ReadPosRankSum=0.172;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCALML6;Func=intronic;Gene=NM_001330313,NM_138705;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307786.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.611;1000g2015aug_all=0.573482;esp6500siv2_all=0.5304;ExAC_ALL=0.5544;ExAC_AFR=0.4663;ExAC_AMR=0.6415;ExAC_EAS=0.6596;ExAC_FIN=0.5865;ExAC_NFE=0.5424;ExAC_OTH=0.5625;ExAC_SAS=0.6751;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,52:86:99:1561,0,889 1 1848109 rs2803296 G C 3146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.227;DP=183;ExcessHet=3.0103;FS=2.6;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-0.256;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCALML6;Func=intronic;Gene=NM_001330313,NM_138705;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307786.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.6167;1000g2015aug_all=0.585463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,106:183:99:3175,0,2146 1 1848734 rs941532 A G 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001330313,NM_138705,NM_178545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs941532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9784;1000g2015aug_all=0.986422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 1849529 rs28640257 A G 659.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.586;DP=40;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.786;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM52;Func=exonic;Gene=NM_178545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMEM52:NM_178545:exon5:c.T422C:p.M141T;Gencode=Name\x3eENST00000378602.3,ENST00000310991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28640257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.053;1000g2015aug_amr=0.5072;1000g2015aug_all=0.352037;esp6500siv2_all=0.3706;ExAC_ALL=0.4434;ExAC_AFR=0.1063;ExAC_AMR=0.5630;ExAC_EAS=0.4600;ExAC_FIN=0.4739;ExAC_NFE=0.4874;ExAC_OTH=0.4631;ExAC_SAS=0.3723;SIFT_score=0.15;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=1.49;FATHMM_pred=T;phyloP100way_vertebrate=1.220;phyloP20way_mammalian=0.238;SiPhy_29way_logOdds=3.361;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:688,0,537 1 1849999 rs116067401 G A 1680.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.89;DP=107;ExcessHet=3.0103;FS=3.538;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.667;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM52;Func=intronic;Gene=NM_178545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378602.3,ENST00000310991.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116067401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0129;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00379393;esp6500siv2_all=.;ExAC_ALL=0.0076;ExAC_AFR=0.0019;ExAC_AMR=0.0101;ExAC_EAS=0;ExAC_FIN=0.0222;ExAC_NFE=0.0091;ExAC_OTH=0.0137;ExAC_SAS=0.0066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,52:107:99:1709,0,1745 1 1854109 rs2803348 A G 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.16;DP=72;ExcessHet=3.0103;FS=1.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.029;SOR=1.023;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon38:c.T4737C:p.S1579S;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.562;1000g2015aug_amr=0.6196;1000g2015aug_all=0.598842;esp6500siv2_all=0.5319;ExAC_ALL=0.5677;ExAC_AFR=0.5230;ExAC_AMR=0.6668;ExAC_EAS=0.6456;ExAC_FIN=0.5492;ExAC_NFE=0.5308;ExAC_OTH=0.5572;ExAC_SAS=0.6402;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,30:72:99:799,0,1086 1 1854321 rs2250833 A G 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=0.772;SOR=0.19;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2250833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.8314;1000g2015aug_all=0.839457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:405,0,238 1 1855450 rs28423370 A G 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.849;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.493;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28423370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8444;1000g2015aug_all=0.856629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:355,0,364 1 1856227 rs752966 C T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.414;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs752966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.492;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.5058;1000g2015aug_all=0.356829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:67:185,0,67 1 1856672 rs2092921 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2092921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.492;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.5058;1000g2015aug_all=0.35643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1856700 rs2092922 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2092922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.83;1000g2015aug_all=0.839058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 1858309 rs941530 T C 2172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.95;DP=162;ExcessHet=3.0103;FS=4.611;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.071;SOR=0.629;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs941530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.6036;1000g2015aug_amr=0.6239;1000g2015aug_all=0.613019;esp6500siv2_all=.;ExAC_ALL=0.5853;ExAC_AFR=0.5606;ExAC_AMR=0.6199;ExAC_EAS=0.6584;ExAC_FIN=0.6458;ExAC_NFE=0.5112;ExAC_OTH=0.5769;ExAC_SAS=0.6296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,78:161:99:2201,0,2240 1 1859296 rs2748984 T C 997.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.716;DP=64;ExcessHet=3.0103;FS=3.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.471;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.056;1000g2015aug_amr=0.5058;1000g2015aug_all=0.355631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:1026,0,1212 1 1860087 rs2748983 C T 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.22;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.109;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.6182;1000g2015aug_all=0.598043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:363,0,324 1 1860428 . C A 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.691;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.618;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:209,0,168 1 1861582 rs2803295 C T 1496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.498;DP=126;ExcessHet=3.0103;FS=2.299;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.305;SOR=0.92;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon26:c.G3205A:p.G1069R;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.5029;1000g2015aug_all=0.355831;esp6500siv2_all=.;ExAC_ALL=0.3777;ExAC_AFR=0.1391;ExAC_AMR=0.4202;ExAC_EAS=0.5;ExAC_FIN=0.625;ExAC_NFE=0.4265;ExAC_OTH=0.4773;ExAC_SAS=0.3657;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=3.980;phyloP20way_mammalian=0.881;SiPhy_29way_logOdds=14.438;gerp++gt2=3.29;CADD=5.370;CADD_Phred=25.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,62:126:99:1525,0,1834 1 1870210 rs2803323 G A 788.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.553;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.33;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.8256;1000g2015aug_all=0.834665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:817,0,800 1 1871979 rs2748982 G A 749.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=63;ExcessHet=3.0103;FS=5.573;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=2.375;SOR=0.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.5499;1000g2015aug_amr=0.6153;1000g2015aug_all=0.59405;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,32:62:99:778,0,800 1 1873453 rs2748981 G A 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.796;DP=42;ExcessHet=3.0103;FS=1.426;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.61;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.611;1000g2015aug_all=0.592452;esp6500siv2_all=.;ExAC_ALL=0.5118;ExAC_AFR=0.4693;ExAC_AMR=0.5488;ExAC_EAS=0.6802;ExAC_FIN=0.5;ExAC_NFE=0.4373;ExAC_OTH=0.5326;ExAC_SAS=0.5507;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,18:42:99:557,0,740 1 1873514 rs2803326 A G 718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.032;DP=54;ExcessHet=3.0103;FS=5.861;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.876;SOR=0.232;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon22:c.T2568C:p.Y856Y;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.611;1000g2015aug_all=0.592452;esp6500siv2_all=.;ExAC_ALL=0.5740;ExAC_AFR=0.4948;ExAC_AMR=0.5691;ExAC_EAS=0.7172;ExAC_FIN=0.6;ExAC_NFE=0.4768;ExAC_OTH=0.5846;ExAC_SAS=0.6229;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,25:54:99:747,0,803 1 1873525 rs2803327 T C 666.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.696;DP=56;ExcessHet=3.0103;FS=3.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.348;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon22:c.A2557G:p.K853E;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.611;1000g2015aug_all=0.592452;esp6500siv2_all=.;ExAC_ALL=0.5733;ExAC_AFR=0.4913;ExAC_AMR=0.5691;ExAC_EAS=0.7172;ExAC_FIN=0.5;ExAC_NFE=0.4762;ExAC_OTH=0.5846;ExAC_SAS=0.6224;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.516;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=4.412;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,24:56:99:695,0,901 1 1873697 rs2748980 G A 1028.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.624;DP=54;ExcessHet=3.0103;FS=1.094;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=-0.658;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.611;1000g2015aug_all=0.591254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,28:54:99:1057,0,1585 1 1873699 rs2748979 G C 1028.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.388;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=-0.302;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.611;1000g2015aug_all=0.590655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,26:52:99:1057,0,1585 1 1875621 rs2803334 G C 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.999;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.409;1000g2015aug_eur=0.498;1000g2015aug_afr=0.149;1000g2015aug_amr=0.5144;1000g2015aug_all=0.386781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:345,0,623 1 1875655 rs2803335 C T 437.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.243;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.299;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.407;1000g2015aug_eur=0.496;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.5115;1000g2015aug_all=0.367812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:466,0,838 1 1875858 rs2803336 C G 3794.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.507;DP=205;ExcessHet=3.0103;FS=2.403;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=1.431;SOR=0.868;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon21:c.G2398C:p.V800L;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.408;1000g2015aug_eur=0.495;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.5144;1000g2015aug_all=0.384984;esp6500siv2_all=.;ExAC_ALL=0.3894;ExAC_AFR=0.2059;ExAC_AMR=0.4185;ExAC_EAS=0.495;ExAC_FIN=0.5;ExAC_NFE=0.4323;ExAC_OTH=0.4922;ExAC_SAS=0.3777;SIFT_score=0.259;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.94;FATHMM_pred=T;phyloP100way_vertebrate=1.874;phyloP20way_mammalian=0.919;SiPhy_29way_logOdds=15.047;gerp++gt2=4.49;CADD=3.432;CADD_Phred=23.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,98:205:99:3823,0,6253 1 1875859 rs2803337 A G 3794.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.187;DP=209;ExcessHet=3.0103;FS=3.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=1.588;SOR=0.959;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon21:c.T2397C:p.D799D;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.408;1000g2015aug_eur=0.496;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.5187;1000g2015aug_all=0.397764;esp6500siv2_all=.;ExAC_ALL=0.3910;ExAC_AFR=0.2431;ExAC_AMR=0.4239;ExAC_EAS=0.495;ExAC_FIN=0.5;ExAC_NFE=0.4317;ExAC_OTH=0.4922;ExAC_SAS=0.3777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:110,99:209:99:3823,0,6253 1 1876114 rs2803338 C T 313.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.564;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2356\x3bName\x3e"3218:AluSx1(SINE)";avsnp150=rs2803338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.495;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.5144;1000g2015aug_all=0.383586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:342,0,384 1 1878071 rs2803340 C T 300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.077;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.553;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.407;1000g2015aug_eur=0.496;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.5101;1000g2015aug_all=0.383387;esp6500siv2_all=0.3951;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:329,0,306 1 1878628 rs2803341 C T 487.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.723;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.617;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2803341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.496;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.5101;1000g2015aug_all=0.386382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,16:27:99:516,0,377 1 1886859 rs3795290 C T 441.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.671;DP=42;ExcessHet=3.0103;FS=4.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.718;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2292;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.2334;1000g2015aug_all=0.1875;esp6500siv2_all=.;ExAC_ALL=0.3333;ExAC_AFR=0.2217;ExAC_AMR=0.3999;ExAC_EAS=0.3257;ExAC_FIN=0.3809;ExAC_NFE=0.3854;ExAC_OTH=0.3151;ExAC_SAS=0.2244;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,17:42:99:470,0,645 1 1887019 rs28548017 A G 1097.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28548017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.8127;1000g2015aug_all=0.797724;esp6500siv2_all=0.8085;ExAC_ALL=0.8168;ExAC_AFR=0.7749;ExAC_AMR=0.8596;ExAC_EAS=0.8514;ExAC_FIN=0.8377;ExAC_NFE=0.8201;ExAC_OTH=0.7818;ExAC_SAS=0.7723;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1126,102,0 1 1887245 rs28575980 G A 819.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.626;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.868;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon18:c.C2061T:p.A687A;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28575980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2292;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.219;1000g2015aug_all=0.18131;esp6500siv2_all=0.2068;ExAC_ALL=0.2267;ExAC_AFR=0.1360;ExAC_AMR=0.2314;ExAC_EAS=0.2088;ExAC_FIN=0.2257;ExAC_NFE=0.2530;ExAC_OTH=0.2183;ExAC_SAS=0.1813;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,36:60:99:848,0,652 1 1888193 rs3820011 C A 2516.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.391;DP=220;ExcessHet=3.0103;FS=1.666;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.399;SOR=0.814;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon17:c.G1882T:p.G628C;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.232;1000g2015aug_all=0.186901;esp6500siv2_all=0.2188;ExAC_ALL=0.2430;ExAC_AFR=0.1463;ExAC_AMR=0.2451;ExAC_EAS=0.2135;ExAC_FIN=0.2471;ExAC_NFE=0.2728;ExAC_OTH=0.2411;ExAC_SAS=0.1920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.016;MutationTaster_pred=P;MutationAssessor_score=3.15;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=5.231;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=15.621;gerp++gt2=4.75;CADD=2.925;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:125,92:217:99:2545,0,3483 1 1888330 rs28535696 C T 1051.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.267;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.407;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e242\x3bName\x3e"3246:MER91B(DNA)";avsnp150=rs28535696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.245;1000g2015aug_all=0.21266;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,36:82:99:1080,0,1436 1 1888369 rs2803285 A G 1723.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=6.138;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e242\x3bName\x3e"3246:MER91B(DNA)";avsnp150=rs2803285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.8329;1000g2015aug_all=0.867212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1752,129,0 1 1888453 rs28549710 G A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28549710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.245;1000g2015aug_all=0.210663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:61:149,0,61 1 1891263 rs2474454 A T 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.386;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.173;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2474454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.2045;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2839;1000g2015aug_all=0.167532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:395,0,425 1 1895177 rs7523728 C T 835.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.452;DP=41;ExcessHet=3.0103;FS=1.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=2.144;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.1888;1000g2015aug_all=0.166534;esp6500siv2_all=0.2154;ExAC_ALL=0.2218;ExAC_AFR=0.1657;ExAC_AMR=0.2072;ExAC_EAS=0.1800;ExAC_FIN=0.2608;ExAC_NFE=0.2535;ExAC_OTH=0.2042;ExAC_SAS=0.1430;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,28:41:99:864,0,382 1 1895540 rs28561741 A G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28561741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.196;1000g2015aug_all=0.189696;esp6500siv2_all=0.2105;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 1896185 rs13303324 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2428\x3bName\x3e"3258:AluSx1(SINE)";avsnp150=rs13303324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.196;1000g2015aug_all=0.189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 1896223 rs13303202 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.949;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2428\x3bName\x3e"3258:AluSx1(SINE)";avsnp150=rs13303202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.196;1000g2015aug_all=0.189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,142 1 1896440 rs16824585 G A 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.756;DP=62;ExcessHet=3.0103;FS=2.146;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.197;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon13:c.C1462T:p.L488L;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16824585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.2032;1000g2015aug_all=0.216653;esp6500siv2_all=0.2406;ExAC_ALL=0.2353;ExAC_AFR=0.2593;ExAC_AMR=0.2269;ExAC_EAS=0.2603;ExAC_FIN=0.2621;ExAC_NFE=0.2519;ExAC_OTH=0.2171;ExAC_SAS=0.1390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,32:62:99:832,0,726 1 1896553 rs28625839 C T 522.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.828;DP=25;ExcessHet=3.0103;FS=5.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.91;ReadPosRankSum=-0.111;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28625839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1256;1000g2015aug_amr=0.1888;1000g2015aug_all=0.166134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,15:25:99:551,0,308 1 1897469 rs28523363 A G 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28523363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.196;1000g2015aug_all=0.189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 1897591 rs4648599 C T 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.175;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.1;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.196;1000g2015aug_all=0.188498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:147,0,145 1 1897749 rs576740187 C T 710.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.034;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.477;SOR=0.614;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs576740187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:739,0,885 1 1897753 rs4648600 C G 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.156;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.536;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2768;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.196;1000g2015aug_all=0.187899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,23:50:99:589,0,1065 1 1898045 rs28712827 G A 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.703;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28712827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1195;1000g2015aug_amr=0.196;1000g2015aug_all=0.186901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 1899861 rs4648601 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.196;1000g2015aug_all=0.190495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 1900186 rs35269416 T C 519.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.775;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=2.336;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon11:c.A1133G:p.K378R;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35269416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.219;1000g2015aug_all=0.153954;esp6500siv2_all=0.1632;ExAC_ALL=0.1855;ExAC_AFR=0.0822;ExAC_AMR=0.2191;ExAC_EAS=0.1173;ExAC_FIN=0.1344;ExAC_NFE=0.2011;ExAC_OTH=0.2044;ExAC_SAS=0.2148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.095;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.318;phyloP20way_mammalian=0.078;SiPhy_29way_logOdds=6.956;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,22:44:99:548,0,650 1 1900232 rs16824588 T C 1585.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP74:NM_001304360:exon11:c.A1087G:p.I363V;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16824588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.438;1000g2015aug_all=0.38778;esp6500siv2_all=0.4351;ExAC_ALL=0.4226;ExAC_AFR=0.4310;ExAC_AMR=0.4545;ExAC_EAS=0.3195;ExAC_FIN=0.3894;ExAC_NFE=0.4485;ExAC_OTH=0.4154;ExAC_SAS=0.3580;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.275;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.054;phyloP20way_mammalian=-1.899;SiPhy_29way_logOdds=6.792;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1614,153,0 1 1900332 rs55709963 A G 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.705;DP=30;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.551;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55709963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.091;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.1744;1000g2015aug_all=0.174521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,12:30:99:447,0,678 1 1900339 rs56126097 A G 421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.539;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.909;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56126097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.1974;1000g2015aug_all=0.180511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:450,0,639 1 1900445 rs61776965 C T 209.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1988;1000g2015aug_all=0.191893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:238,0,150 1 1900454 rs6681749 A G 325.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.5043;1000g2015aug_all=0.647564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:354,24,0 1 1902466 rs137927575 A C 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.069;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs137927575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2103;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.2176;1000g2015aug_all=0.182907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:162,0,442 1 1903303 rs4648603 C T 883.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.21;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.498;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.4409;1000g2015aug_all=0.49381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:912,69,0 1 1903357 rs13303329 G C 509.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.079;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.249;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.1859;1000g2015aug_all=0.188898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,19:41:99:538,0,659 1 1903712 rs13303201 C A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.2421;1000g2015aug_all=0.272764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 1905790 rs16824603 A G 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.217;DP=34;ExcessHet=3.0103;FS=7.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.938;SOR=0.053;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16824603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.196;1000g2015aug_all=0.212061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:490,0,648 1 1916587 rs3795283 G T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.2421;1000g2015aug_all=0.272963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 1916890 rs3795280 C T 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.434;DP=25;ExcessHet=3.0103;FS=4.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.74;SOR=2.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=exonic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP74:NM_001304360:exon6:c.G435A:p.L145L;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.2795;1000g2015aug_all=0.438498;esp6500siv2_all=0.4104;ExAC_ALL=0.3733;ExAC_AFR=0.6239;ExAC_AMR=0.2815;ExAC_EAS=0.4395;ExAC_FIN=0.3922;ExAC_NFE=0.3375;ExAC_OTH=0.3460;ExAC_SAS=0.3930;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:430,0,317 1 1917058 rs34331632 A G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34331632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.281;1000g2015aug_all=0.422324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 1918191 rs4233028 A G 286.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.4553;1000g2015aug_all=0.642173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:315,30,0 1 1918488 rs4350140 A G 2576.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=0.718;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4350140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.4467;1000g2015aug_all=0.630591;esp6500siv2_all=0.6404;ExAC_ALL=0.5607;ExAC_AFR=0.8826;ExAC_AMR=0.4730;ExAC_EAS=0.5339;ExAC_FIN=0.5172;ExAC_NFE=0.5241;ExAC_OTH=0.5372;ExAC_SAS=0.6115;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2605,242,0 1 1918535 rs4535948 A T 807.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.433;DP=68;ExcessHet=3.0103;FS=0.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.912;SOR=0.535;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4535948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.2421;1000g2015aug_all=0.273363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,37:68:99:836,0,639 1 1918584 rs4603072 C T 522.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.546;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.188;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4603072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.2565;1000g2015aug_all=0.323482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:551,0,575 1 1918595 rs4466593 G A 504.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.439;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=1.503;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4466593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.2421;1000g2015aug_all=0.272764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:533,0,541 1 1922303 rs13303195 C T 1016.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13303195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.497;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.4568;1000g2015aug_all=0.649561;esp6500siv2_all=0.6424;ExAC_ALL=0.5785;ExAC_AFR=0.8694;ExAC_AMR=0.4862;ExAC_EAS=0.6153;ExAC_FIN=0.5343;ExAC_NFE=0.5410;ExAC_OTH=0.5404;ExAC_SAS=0.6216;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1045,108,0 1 1925337 rs111643081 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP74;Func=intronic;Gene=NM_001304360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493964.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2628\x3bName\x3e"3308:AluY(SINE)";avsnp150=rs111643081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.2824;1000g2015aug_all=0.169129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 1956362 rs2376805 G A 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.668;DP=102;ExcessHet=3.0103;FS=0.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.395;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABRD;Func=intronic;Gene=NM_000815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378585.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2376805;cosmic70=.;CLNALLELEID=249668;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.828;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.7349;1000g2015aug_all=0.775559;esp6500siv2_all=0.8197;ExAC_ALL=0.8044;ExAC_AFR=0.7944;ExAC_AMR=0.7333;ExAC_EAS=0.7174;ExAC_FIN=0.8326;ExAC_NFE=0.8335;ExAC_OTH=0.8404;ExAC_SAS=0.7765;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,48:102:99:1190,0,1441 1 1957037 rs2229110 T C 2956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.416;DP=249;ExcessHet=3.0103;FS=3.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.825;SOR=0.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABRD;Func=exonic;Gene=NM_000815;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GABRD:NM_000815:exon4:c.T330C:p.G110G;Gencode=Name\x3eENST00000378585.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229110;cosmic70=.;CLNALLELEID=249669;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.5101;1000g2015aug_all=0.561302;esp6500siv2_all=0.6843;ExAC_ALL=0.5934;ExAC_AFR=0.7290;ExAC_AMR=0.4569;ExAC_EAS=0.3148;ExAC_FIN=0.6309;ExAC_NFE=0.6578;ExAC_OTH=0.6473;ExAC_SAS=0.4732;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:138,111:249:99:2985,0,3821 1 1957299 rs3820007 C T 665.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.024;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=1.044;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABRD;Func=intronic;Gene=NM_000815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378585.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.3112;1000g2015aug_all=0.291334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,21:35:99:694,0,444 1 1959261 rs28574670 A G 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.439;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABRD;Func=intronic;Gene=NM_000815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378585.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28574670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.819;1000g2015aug_eur=0.829;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.7507;1000g2015aug_all=0.856629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:181,0,474 1 1960926 rs28581504 T C 410.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.778;DP=37;ExcessHet=3.0103;FS=3.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.567;SOR=0.195;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABRD;Func=intronic;Gene=NM_000815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378585.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28581504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.819;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.7435;1000g2015aug_all=0.823283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:439,0,520 1 2005740 rs2459986 T C 1055.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400921.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2459986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.8098;1000g2015aug_all=0.932508;esp6500siv2_all=.;ExAC_ALL=0.9074;ExAC_AFR=0.9691;ExAC_AMR=0.8090;ExAC_EAS=1;ExAC_FIN=0.8409;ExAC_NFE=0.8695;ExAC_OTH=0.8902;ExAC_SAS=0.9246;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:95:1084,95,0 1 2017872 rs17776713 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400921.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17776713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0159;1000g2015aug_all=0.00878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2035379 rs10910029 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400921.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.591;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.549;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2066990 rs55958603 C T 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.191;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001033582,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400920.5,ENST00000400921.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55958603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0159;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,267 1 2106840 rs12135175 T C 385.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001033582,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400921.6,ENST00000400920.5;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:37:414,37,0 1 2106896 rs12135178 T C 173.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKCZ;Func=intronic;Gene=NM_001033581,NM_001033582,NM_001242874,NM_001350803,NM_001350804,NM_001350805,NM_001350806,NM_002744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400920.5,ENST00000400921.6;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:202,15,0 1 2118539 rs2503699 T C 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.944;DP=29;ExcessHet=3.0103;FS=5.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.262;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAP20;Func=UTR5;Gene=NM_001282671,NM_001282672;GeneDetail=NM_001282671:c.-889A>G\x3bNM_001282672:c.-889A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400919.7;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2503699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9335;1000g2015aug_sas=0.864;1000g2015aug_eur=0.675;1000g2015aug_afr=0.9554;1000g2015aug_amr=0.8141;1000g2015aug_all=0.857228;esp6500siv2_all=0.7495;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,19:29:99:502,0,194 1 2121118 rs2503701 C T 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.801;DP=77;ExcessHet=3.0103;FS=0.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.721;SOR=0.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAP20;Func=UTR3;Gene=NM_001256947,NM_001282670,NM_182533;GeneDetail=NM_001256947:c.*98G>A\x3bNM_001282670:c.*30G>A\x3bNM_182533:c.*30G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400919.7,ENST00000378546.8;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2503701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.6455;1000g2015aug_all=0.702077;esp6500siv2_all=0.5981;ExAC_ALL=0.6729;ExAC_AFR=0.6015;ExAC_AMR=0.6824;ExAC_EAS=0.8586;ExAC_FIN=0.6491;ExAC_NFE=0.6203;ExAC_OTH=0.6655;ExAC_SAS=0.8243;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,41:77:99:1093,0,975 1 2144982 rs2480714 G T 404.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.151;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.021;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001282670;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442483.2;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2480714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8444;1000g2015aug_all=0.883187;esp6500siv2_all=.;ExAC_ALL=0.9231;ExAC_AFR=0.9167;ExAC_AMR=.;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.8125;ExAC_OTH=.;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,18:30:99:433,0,307 1 2156362 rs2460000 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001282670,NM_003036;GeneDetail=dist\x3e12203\x3bdist\x3e3772;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2460000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.755;1000g2015aug_all=0.767173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 2168359 rs72637886 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72637886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0205671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2215211 rs6686375 T C 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.5778;1000g2015aug_all=0.687101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 2221634 rs903923 G C 141.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.18;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.7738;1000g2015aug_amr=0.5288;1000g2015aug_all=0.536142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 1 2221636 rs903922 A T 141.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.7738;1000g2015aug_amr=0.5288;1000g2015aug_all=0.536142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 1 2234251 rs1496555 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1496555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.8211;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9078;1000g2015aug_all=0.866813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 2234632 rs2279702 G A 690.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.881;DP=54;ExcessHet=3.0103;FS=3.715;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.572;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1124;1000g2015aug_all=0.112819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,26:54:99:719,0,667 1 2234903 rs2256178 C T 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.473;DP=32;ExcessHet=3.0103;FS=4.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.358;SOR=0.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2256178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3429;1000g2015aug_all=0.269169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:411,0,582 1 2235019 rs4648631 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-1.068;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.1729;1000g2015aug_all=0.160144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 2235656 rs11577387 G A 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.41;ReadPosRankSum=-0.386;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.165;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1037;1000g2015aug_all=0.0984425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:300,0,171 1 2235662 rs2645073 G A 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.37;DP=13;ExcessHet=3.0103;FS=2.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=1.185;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2645073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2937;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.3184;1000g2015aug_all=0.290535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,3:13:96:96,0,449 1 2235672 rs2843159 C T 73.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=0.285;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2843159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.364;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.33;1000g2015aug_all=0.34984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:99:102,0,365 1 2237248 rs11580302 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.834;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKI;Func=intronic;Gene=NM_003036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378536.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.202;1000g2015aug_amr=0.1628;1000g2015aug_all=0.180911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 2247744 rs2843150 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003036,NM_024848;GeneDetail=dist\x3e6092\x3bdist\x3e4948;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2843150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.5303;1000g2015aug_all=0.448882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2283266 rs2840526 T C 96.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100129534,MORN1;Func=ncRNA_exonic;Gene=NR_024489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.172;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.438;1000g2015aug_all=0.390176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:124,9,0 1 2283313 rs2843130 C G 207.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=0;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100129534,MORN1;Func=ncRNA_exonic;Gene=NR_024489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2843130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.165;1000g2015aug_afr=0.025;1000g2015aug_amr=0.3804;1000g2015aug_all=0.184505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:236,0,53 1 2286947 rs1039100 A G 2010.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7,ENST00000378529.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1039100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.8833;1000g2015aug_all=0.882987;esp6500siv2_all=.;ExAC_ALL=0.8443;ExAC_AFR=0.9371;ExAC_AMR=0.8699;ExAC_EAS=0.8416;ExAC_FIN=0.8122;ExAC_NFE=0.7585;ExAC_OTH=0.8480;ExAC_SAS=0.8986;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2039,210,0 1 2287110 rs1039101 C T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7,ENST00000378529.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1039101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2093;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.3818;1000g2015aug_all=0.180511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,143 1 2288747 rs2645086 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378529.7,ENST00000378531.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2645086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.6182;1000g2015aug_all=0.582069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 2288852 rs2645087 G A 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.493;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.93;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7,ENST00000378529.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2645087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2093;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.3833;1000g2015aug_all=0.18111;esp6500siv2_all=0.1221;ExAC_ALL=0.1990;ExAC_AFR=0.0570;ExAC_AMR=0.4451;ExAC_EAS=0.1933;ExAC_FIN=0.2643;ExAC_NFE=0.1661;ExAC_OTH=0.2155;ExAC_SAS=0.2167;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:447,0,495 1 2290256 rs2840545 G A 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.234;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378529.7,ENST00000378531.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.379;1000g2015aug_all=0.179912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:325,0,283 1 2290288 rs2840544 T C 471.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=intronic;Gene=NM_001301060,NM_024848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378529.7,ENST00000378531.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.502;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.6138;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:500,36,0 1 2323041 rs77804600 T C 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.465;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMORN1;Func=UTR5;Gene=NM_001301060,NM_024848;GeneDetail=NM_001301060:c.-69A>G\x3bNM_024848:c.-69A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378531.7,ENST00000378529.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77804600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.1744;1000g2015aug_all=0.175319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,221 1 2327075 rs3736330 C T 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.309;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.049;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRER1;Func=intronic;Gene=NM_007033;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378512.5,ENST00000630837.2,ENST00000605895.5,ENST00000378513.7,ENST00000378518.5,ENST00000488353.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4067;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.2378;1000g2015aug_all=0.236222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:241,0,332 1 2328714 rs2645081 A G 1620.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=2.511;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRER1;Func=intronic;Gene=NM_007033;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378513.7,ENST00000378518.5,ENST00000630837.2,ENST00000378512.5,ENST00000605895.5,ENST00000488353.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2645081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.6664;1000g2015aug_amr=0.817;1000g2015aug_all=0.805911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1649,138,0 1 2332391 rs12037485 C T 831.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.036;DP=71;ExcessHet=3.0103;FS=6.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.092;SOR=0.689;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRER1;Func=intronic;Gene=NM_007033;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000488353.2,ENST00000378518.5,ENST00000378513.7,ENST00000605895.5,ENST00000378512.5,ENST00000630837.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12037485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.4539;1000g2015aug_all=0.340256;esp6500siv2_all=0.3945;ExAC_ALL=0.4124;ExAC_AFR=0.2794;ExAC_AMR=0.4140;ExAC_EAS=0.2649;ExAC_FIN=0.5402;ExAC_NFE=0.4495;ExAC_OTH=0.4322;ExAC_SAS=0.3655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,36:71:99:860,0,974 1 2332640 rs59940476 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRER1;Func=intronic;Gene=NM_007033;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000605895.5,ENST00000630837.2,ENST00000378512.5,ENST00000378518.5,ENST00000378513.7,ENST00000488353.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e130\x3bName\x3e"3880:(CCTCCCT)n(Simple_repeat)";avsnp150=rs59940476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.6029;1000g2015aug_amr=0.8156;1000g2015aug_all=0.773363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 2337032 rs1129171 C T 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.058;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.062;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=UTR3;Gene=NM_002617,NM_153818;GeneDetail=NM_002617:c.*173G>A\x3bNM_153818:c.*173G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000288774.7,ENST00000447513.6,ENST00000507596.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1129171;cosmic70=.;CLNALLELEID=280474;CLNDN=Zellweger_syndrome;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.268;1000g2015aug_all=0.30651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:285,0,326 1 2337537 rs2494426 C G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=intronic;Gene=NM_002617,NM_153818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507596.5,ENST00000447513.6,ENST00000288774.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.8127;1000g2015aug_all=0.769968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 2338126 rs3795269 C A 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.637;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.556;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=intronic;Gene=NM_002617,NM_153818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000288774.7,ENST00000447513.6,ENST00000507596.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.4539;1000g2015aug_all=0.339058;esp6500siv2_all=0.3826;ExAC_ALL=0.4176;ExAC_AFR=0.3196;ExAC_AMR=0.4300;ExAC_EAS=0.2793;ExAC_FIN=0.5536;ExAC_NFE=0.4469;ExAC_OTH=0.4538;ExAC_SAS=0.3747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,35:59:99:1067,0,757 1 2338569 rs2494427 T C 681.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=intronic;Gene=NM_002617,NM_153818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000288774.7,ENST00000447513.6,ENST00000507596.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.8127;1000g2015aug_all=0.770767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:710,51,0 1 2340200 rs2494598 T C 4173.77 PASS AC=2;AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=exonic;Gene=NM_002617,NM_153818;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T;Gencode=Name\x3eENST00000507596.5,ENST00000447513.6,ENST00000288774.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494598;cosmic70=.;CLNALLELEID=135330;CLNDN=Zellweger_syndrome|not_specified;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.7666;1000g2015aug_all=0.698882;esp6500siv2_all=0.7438;ExAC_ALL=0.7714;ExAC_AFR=0.6008;ExAC_AMR=0.7699;ExAC_EAS=0.7265;ExAC_FIN=0.8119;ExAC_NFE=0.8116;ExAC_OTH=0.7595;ExAC_SAS=0.7258;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,127:127:99:4202,381,0 1 2340504 rs12092052 C T 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.794;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX10;Func=intronic;Gene=NM_002617,NM_153818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447513.6,ENST00000288774.7,ENST00000507596.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12092052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1256;1000g2015aug_amr=0.2622;1000g2015aug_all=0.293131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,333 1 2368232 rs4233033 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002617,NM_001303012;GeneDetail=dist\x3e24222\x3bdist\x3e30666;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8859;1000g2015aug_sas=0.547;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.792;1000g2015aug_amr=0.683;1000g2015aug_all=0.676118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 2372397 rs6688934 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002617,NM_001303012;GeneDetail=dist\x3e28387\x3bdist\x3e26501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.492;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6556;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 2383756 rs10797425 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002617,NM_001303012;GeneDetail=dist\x3e39746\x3bdist\x3e15142;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.5821;1000g2015aug_all=0.533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2399119 rs2494632 A G 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.398;DP=52;ExcessHet=3.0103;FS=3.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.746;SOR=0.761;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.496;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.6873;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=0.6;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=0;ExAC_FIN=1;ExAC_NFE=0.375;ExAC_OTH=.;ExAC_SAS=0.875;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:856,0,1661 1 2399149 rs2494631 A G 892.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.685;DP=51;ExcessHet=3.0103;FS=3.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-2.47;SOR=0.456;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.683;1000g2015aug_all=0.698682;esp6500siv2_all=.;ExAC_ALL=0.5;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=0.5;ExAC_FIN=1;ExAC_NFE=0.375;ExAC_OTH=.;ExAC_SAS=0.5;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:921,0,1575 1 2418625 rs7512269 C T 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.936;DP=79;ExcessHet=3.0103;FS=3.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.251;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=exonic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLCH2:NM_001303012:exon7:c.C843T:p.Y281Y,PLCH2:NM_001303013:exon7:c.C984T:p.Y328Y,PLCH2:NM_014638:exon7:c.C924T:p.Y308Y;Gencode=Name\x3eENST00000378486.7,ENST00000419816.6,ENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.1542;1000g2015aug_all=0.119808;esp6500siv2_all=0.0988;ExAC_ALL=0.1877;ExAC_AFR=0.1054;ExAC_AMR=0.3764;ExAC_EAS=0.2674;ExAC_FIN=0.2355;ExAC_NFE=0.2006;ExAC_OTH=0.1154;ExAC_SAS=0.1347;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,48:79:99:1190,0,876 1 2420590 rs10752744 T C 449.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.468;DP=38;ExcessHet=3.0103;FS=2.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.269;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419816.6,ENST00000378486.7,ENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.82;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.916;1000g2015aug_amr=0.8343;1000g2015aug_all=0.86881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:478,0,706 1 2422614 rs2477699 G A 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.058;DP=42;ExcessHet=3.0103;FS=1.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.385;SOR=0.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449969.5,ENST00000419816.6,ENST00000378486.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.755;1000g2015aug_all=0.751997;esp6500siv2_all=0.7255;ExAC_ALL=0.7480;ExAC_AFR=0.7250;ExAC_AMR=0.8339;ExAC_EAS=0.9139;ExAC_FIN=0.6873;ExAC_NFE=0.7247;ExAC_OTH=0.7311;ExAC_SAS=0.7304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,17:42:99:414,0,658 1 2426766 rs3001347 A G 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.231;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449969.5,ENST00000378486.7,ENST00000419816.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3001347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.4654;1000g2015aug_all=0.382388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,148 1 2428874 rs2477706 T C 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.11;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.243;SOR=1.195;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=intronic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449969.5,ENST00000419816.6,ENST00000378486.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.9153;1000g2015aug_amr=0.804;1000g2015aug_all=0.847045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,44:73:99:1062,0,669 1 2430617 rs2296442 C T 440.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.482;DP=55;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=0.258;SOR=0.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=exonic;Gene=NM_001303012,NM_001303013,NM_014638;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I;Gencode=Name\x3eENST00000419816.6,ENST00000378486.7,ENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.4481;1000g2015aug_all=0.366613;esp6500siv2_all=0.3866;ExAC_ALL=0.4352;ExAC_AFR=0.2208;ExAC_AMR=0.4693;ExAC_EAS=0.5221;ExAC_FIN=0.4063;ExAC_NFE=0.4689;ExAC_OTH=0.4543;ExAC_SAS=0.3643;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,22:55:99:469,0,907 1 2433900 rs12736998 C T 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.308;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0;SOR=0.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=exonic;Gene=NM_001303012;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLCH2:NM_001303012:exon21:c.C2930T:p.P977L;Gencode=Name\x3eENST00000378486.7,ENST00000419816.6,ENST00000449969.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12736998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.4582;1000g2015aug_all=0.379792;esp6500siv2_all=.;ExAC_ALL=0.4187;ExAC_AFR=0.2553;ExAC_AMR=0.4833;ExAC_EAS=0.5202;ExAC_FIN=0.5;ExAC_NFE=0.4960;ExAC_OTH=0.4692;ExAC_SAS=0.3836;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.87;FATHMM_pred=T;phyloP100way_vertebrate=0.458;phyloP20way_mammalian=-0.530;SiPhy_29way_logOdds=8.026;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:279,0,336 1 2435776 rs149300848 G A 1215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.774;DP=76;ExcessHet=3.0103;FS=0.931;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=-0.298;SOR=0.903;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLCH2;Func=exonic;Gene=NM_014638;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLCH2:NM_014638:exon22:c.G3375A:p.T1125T;Gencode=Name\x3eENST00000449969.5,ENST00000419816.6,ENST00000378486.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs149300848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00638978;esp6500siv2_all=0.0060;ExAC_ALL=0.0022;ExAC_AFR=0.0261;ExAC_AMR=0.0007;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=4.791e-05;ExAC_OTH=0.0036;ExAC_SAS=0.0001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,42:76:99:1244,0,852 1 2452569 rs2985862 T C 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.04;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.43;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePANK4;Func=exonic;Gene=NM_018216;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PANK4:NM_018216:exon3:c.A417G:p.K139K;Gencode=Name\x3eENST00000378466.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2985862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.91;1000g2015aug_amr=0.8084;1000g2015aug_all=0.846046;esp6500siv2_all=0.7952;ExAC_ALL=0.7806;ExAC_AFR=0.9020;ExAC_AMR=0.8555;ExAC_EAS=0.9625;ExAC_FIN=0.6845;ExAC_NFE=0.7384;ExAC_OTH=0.7655;ExAC_SAS=0.7655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:267,0,583 1 2487663 rs2227312 C A 1872.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.059;DP=123;ExcessHet=3.0103;FS=0.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.077;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC115110;Func=ncRNA_exonic;Gene=NR_037844;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452793.1,ENST00000416860.2,ENST00000409119.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2227312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.736;1000g2015aug_amr=0.5115;1000g2015aug_all=0.599241;esp6500siv2_all=.;ExAC_ALL=0.6286;ExAC_AFR=0.675;ExAC_AMR=0.5;ExAC_EAS=0.5556;ExAC_FIN=0.5;ExAC_NFE=0.5387;ExAC_OTH=0.7;ExAC_SAS=0.6600;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,71:123:99:1901,0,1309 1 2487766 rs2227313 T C 1728.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.764;DP=114;ExcessHet=3.0103;FS=0.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.074;SOR=0.769;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC115110;Func=ncRNA_exonic;Gene=NR_037844;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409119.5,ENST00000416860.2,ENST00000452793.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2227313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.5403;1000g2015aug_all=0.610823;esp6500siv2_all=.;ExAC_ALL=0.5863;ExAC_AFR=0.6768;ExAC_AMR=0.5667;ExAC_EAS=0.5093;ExAC_FIN=0.5;ExAC_NFE=0.4788;ExAC_OTH=0.5776;ExAC_SAS=0.6247;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,65:114:99:1757,0,1298 1 2488153 rs4870 A G 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.431;DP=46;ExcessHet=3.0103;FS=1.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=2.05;SOR=1.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC115110,TNFRSF14;Func=exonic;Gene=NM_001297605,NM_003820;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R;Gencode=Name\x3eENST00000355716.4,ENST00000416860.2,ENST00000409119.5,ENST00000452793.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4870;cosmic70=.;CLNALLELEID=139088;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.5303;1000g2015aug_all=0.614816;esp6500siv2_all=0.5580;ExAC_ALL=0.5443;ExAC_AFR=0.7367;ExAC_AMR=0.5341;ExAC_EAS=0.5096;ExAC_FIN=0.5385;ExAC_NFE=0.4939;ExAC_OTH=0.5566;ExAC_SAS=0.6529;SIFT_score=0.471;SIFT_pred=T;Polyphen2_HDIV_score=0.61;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.175;MutationAssessor_pred=L;FATHMM_score=-2.37;FATHMM_pred=D;phyloP100way_vertebrate=-1.268;phyloP20way_mammalian=-0.844;SiPhy_29way_logOdds=7.533;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:595,0,711 1 2488930 rs2495366 G A 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.992;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF14;Func=intronic;Gene=NM_001297605,NM_003820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355716.4,ENST00000409119.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2495366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.5389;1000g2015aug_all=0.619609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:151,0,89 1 2490898 rs2257763 C A 274.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.879;DP=64;ExcessHet=3.0103;FS=5.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.66;ReadPosRankSum=0.203;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF14;Func=intronic;Gene=NM_001297605,NM_003820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355716.4,ENST00000409119.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2257763;cosmic70=.;CLNALLELEID=137143;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.5591;1000g2015aug_all=0.640775;esp6500siv2_all=.;ExAC_ALL=0.5899;ExAC_AFR=0.7438;ExAC_AMR=0.5591;ExAC_EAS=0.5556;ExAC_FIN=0.5625;ExAC_NFE=0.4736;ExAC_OTH=0.5758;ExAC_SAS=0.6359;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,19:59:99:303,0,919 1 2490942 rs2281852 C A 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.907;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.357;SOR=0.734;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF14;Func=intronic;Gene=NM_001297605,NM_003820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355716.4,ENST00000409119.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281852;cosmic70=.;CLNALLELEID=137145;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.708;1000g2015aug_amr=0.5346;1000g2015aug_all=0.597843;esp6500siv2_all=.;ExAC_ALL=0.5713;ExAC_AFR=0.6498;ExAC_AMR=0.5484;ExAC_EAS=0.505;ExAC_FIN=0.5;ExAC_NFE=0.4660;ExAC_OTH=0.5530;ExAC_SAS=0.6185;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,29:66:99:690,0,997 1 2491205 rs2234161 C T 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.222;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.976;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF14;Func=intronic;Gene=NM_001297605,NM_003820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409119.5,ENST00000355716.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2234161;cosmic70=.;CLNALLELEID=137153;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.5605;1000g2015aug_all=0.64397;esp6500siv2_all=.;ExAC_ALL=0.6596;ExAC_AFR=0.8234;ExAC_AMR=0.6867;ExAC_EAS=0.6679;ExAC_FIN=0.7179;ExAC_NFE=0.6154;ExAC_OTH=0.6599;ExAC_SAS=0.6656;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,40:79:99:1160,0,1194 1 2494785 rs8725 G A 1107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.064;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.08;ReadPosRankSum=0.919;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF14;Func=UTR3;Gene=NM_001297605,NM_003820;GeneDetail=NM_001297605:c.*227G>A\x3bNM_003820:c.*73G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355716.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.493;1000g2015aug_afr=0.7776;1000g2015aug_amr=0.5591;1000g2015aug_all=0.631989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,34:48:99:1136,0,385 1 2499780 rs4465142 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.65;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996583;Func=ncRNA_intronic;Gene=NR_121638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456687.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=Score\x3e0.972191\x3bName\x3echr1:2551369;Repeat=.;avsnp150=rs4465142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.8654;1000g2015aug_amr=0.5648;1000g2015aug_all=0.654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 2499810 rs4449972 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.65;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996583;Func=ncRNA_intronic;Gene=NR_121638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456687.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=Score\x3e0.972191\x3bName\x3echr1:2551369;Repeat=.;avsnp150=rs4449972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5704;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.5187;1000g2015aug_all=0.580871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 2499898 rs4385650 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.67;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996583;Func=ncRNA_intronic;Gene=NR_121638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456687.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=Score\x3e0.972191\x3bName\x3echr1:2551369;Repeat=.;avsnp150=rs4385650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.428;1000g2015aug_all=0.479034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 2520302 rs6667564 T C 554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.323;DP=36;ExcessHet=3.0103;FS=7.666;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.904;SOR=1.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM213B;Func=intronic;Gene=NM_001195736,NM_001195737,NM_001195738,NM_001195740,NM_001195741,NM_152371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378425.9,ENST00000537325.5,ENST00000419916.6,ENST00000444521.6,ENST00000378424.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.333;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.4885;1000g2015aug_all=0.560703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:583,0,397 1 2520500 rs6701238 G A 492.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.11;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.38;SOR=0.754;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM213B;Func=intronic;Gene=NM_001195736,NM_001195737,NM_001195738,NM_001195740,NM_001195741,NM_152371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378425.9,ENST00000537325.5,ENST00000419916.6,ENST00000444521.6,ENST00000378424.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.333;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.4885;1000g2015aug_all=0.558906;esp6500siv2_all=0.4763;ExAC_ALL=0.4226;ExAC_AFR=0.7504;ExAC_AMR=0.4623;ExAC_EAS=0.5025;ExAC_FIN=0.3809;ExAC_NFE=0.3393;ExAC_OTH=0.4119;ExAC_SAS=0.4958;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,18:32:99:521,0,387 1 2520527 rs6670198 T C 408.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.196;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.812;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM213B;Func=intronic;Gene=NM_001195736,NM_001195737,NM_001195738,NM_001195740,NM_001195741,NM_152371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537325.5,ENST00000419916.6,ENST00000378425.9,ENST00000378424.8,ENST00000444521.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6670198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.333;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.4885;1000g2015aug_all=0.559305;esp6500siv2_all=0.4727;ExAC_ALL=0.4243;ExAC_AFR=0.7497;ExAC_AMR=0.4679;ExAC_EAS=0.5059;ExAC_FIN=0.3825;ExAC_NFE=0.3417;ExAC_OTH=0.4118;ExAC_SAS=0.4989;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:437,0,319 1 2523212 rs876938 G C 578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.471;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.67;ReadPosRankSum=0.369;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs876938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.4438;1000g2015aug_all=0.498802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,19:28:99:607,0,258 1 2523706 rs867435 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs867435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.3131;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.4524;1000g2015aug_all=0.4998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 2523723 rs867436 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs867436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.334;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.4769;1000g2015aug_all=0.511382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 2524205 rs745368 C T 448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.266;DP=54;ExcessHet=3.0103;FS=2.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.846;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs745368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.6142;1000g2015aug_amr=0.4452;1000g2015aug_all=0.497404;esp6500siv2_all=0.4035;ExAC_ALL=0.3892;ExAC_AFR=0.5715;ExAC_AMR=0.4245;ExAC_EAS=0.4881;ExAC_FIN=0.3576;ExAC_NFE=0.3149;ExAC_OTH=0.4114;ExAC_SAS=0.5092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,22:54:99:477,0,766 1 2524457 rs745367 T C 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.886;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.824;SOR=0.301;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs745367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.331;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.4885;1000g2015aug_all=0.539337;esp6500siv2_all=0.4586;ExAC_ALL=0.4152;ExAC_AFR=0.6833;ExAC_AMR=0.4544;ExAC_EAS=0.4945;ExAC_FIN=0.3778;ExAC_NFE=0.3368;ExAC_OTH=0.4252;ExAC_SAS=0.5148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:254,0,286 1 2525660 rs3748818 G A 532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.4;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.16;ReadPosRankSum=0.315;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.4424;1000g2015aug_all=0.483826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:561,0,635 1 2525665 rs3748817 T C 532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.027;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.22;ReadPosRankSum=-0.239;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.331;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.4885;1000g2015aug_all=0.539736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:561,0,635 1 2526571 rs56305550 G A 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.863;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.489;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e388\x3bName\x3e"4079:MIRb(SINE)";avsnp150=rs56305550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.121;1000g2015aug_all=0.0772764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:267,0,280 1 2526746 rs3748816 A G 1031.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.405;DP=67;ExcessHet=3.0103;FS=0.949;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.524;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=exonic;Gene=NM_033467;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MMEL1:NM_033467:exon16:c.T1553C:p.M518T;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eCeliac_disease;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.332;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.487;1000g2015aug_all=0.541334;esp6500siv2_all=0.4532;ExAC_ALL=0.4142;ExAC_AFR=0.6816;ExAC_AMR=0.4535;ExAC_EAS=0.4994;ExAC_FIN=0.3765;ExAC_NFE=0.3345;ExAC_OTH=0.4195;ExAC_SAS=0.5090;SIFT_score=0.715;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.090;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.28;MutationAssessor_pred=N;FATHMM_score=-1.51;FATHMM_pred=D;phyloP100way_vertebrate=-2.273;phyloP20way_mammalian=-2.928;SiPhy_29way_logOdds=2.161;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,40:67:99:1060,0,664 1 2527678 rs2260976 A G 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.092;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.232;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2260976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.6899;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.5533;1000g2015aug_all=0.502196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,26:47:99:808,0,622 1 2528133 rs2843401 T C 1344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.719;DP=100;ExcessHet=3.0103;FS=2.748;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.414;SOR=1.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2843401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.5519;1000g2015aug_all=0.501597;esp6500siv2_all=0.5939;ExAC_ALL=0.6122;ExAC_AFR=0.4307;ExAC_AMR=0.5769;ExAC_EAS=0.5136;ExAC_FIN=0.6419;ExAC_NFE=0.6857;ExAC_OTH=0.5957;ExAC_SAS=0.4951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,49:100:99:1373,0,1275 1 2528340 rs12133956 C A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0493211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 2535496 rs35642779 C A 426.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.993;DP=23;ExcessHet=3.0103;FS=4.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=1.163;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35642779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.003;1000g2015aug_amr=0.062;1000g2015aug_all=0.0305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,15:23:99:455,0,265 1 2535613 rs4648562 C A 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.295;DP=36;ExcessHet=3.0103;FS=3.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=0.194;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=exonic;Gene=NM_033467;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MMEL1:NM_033467:exon10:c.G924T:p.V308V;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.4481;1000g2015aug_all=0.496006;esp6500siv2_all=0.4036;ExAC_ALL=0.3908;ExAC_AFR=0.5739;ExAC_AMR=0.4242;ExAC_EAS=0.4897;ExAC_FIN=0.3592;ExAC_NFE=0.3183;ExAC_OTH=0.4080;ExAC_SAS=0.4999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,10:36:99:292,0,841 1 2535758 rs4648652 A G 658.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.114;DP=59;ExcessHet=3.0103;FS=2.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.569;SOR=0.444;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.332;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.4928;1000g2015aug_all=0.539337;esp6500siv2_all=0.4512;ExAC_ALL=0.4134;ExAC_AFR=0.6834;ExAC_AMR=0.4561;ExAC_EAS=0.4927;ExAC_FIN=0.3756;ExAC_NFE=0.3352;ExAC_OTH=0.4188;ExAC_SAS=0.5073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,28:59:99:687,0,843 1 2535895 rs4648653 C T 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.887;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-1.611;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.4467;1000g2015aug_all=0.494609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:89:89,0,185 1 2536813 rs72646003 C A 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.303;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72646003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1196;1000g2015aug_all=0.0662939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 2537095 rs78506337 G A 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=1.18;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78506337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.649;1000g2015aug_amr=0.4625;1000g2015aug_all=0.508387;esp6500siv2_all=0.4177;ExAC_ALL=0.3949;ExAC_AFR=0.6143;ExAC_AMR=0.4271;ExAC_EAS=0.4935;ExAC_FIN=0.3645;ExAC_NFE=0.3181;ExAC_OTH=0.4030;ExAC_SAS=0.5017;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:170,0,106 1 2537464 rs4074789 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4074789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.329;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.4899;1000g2015aug_all=0.540335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2537838 rs41300092 C T 1210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.696;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.641;SOR=0.645;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41300092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.4452;1000g2015aug_all=0.476038;esp6500siv2_all=0.3790;ExAC_ALL=0.4000;ExAC_AFR=0.5256;ExAC_AMR=0.4380;ExAC_EAS=0.5149;ExAC_FIN=0.3855;ExAC_NFE=0.3306;ExAC_OTH=0.4186;ExAC_SAS=0.5037;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,46:79:99:1239,0,869 1 2538209 rs10910105 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.4452;1000g2015aug_all=0.475639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 2538349 rs10797436 G A 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.111;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-1.137;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.4452;1000g2015aug_all=0.476038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:250,0,247 1 2538738 rs12138909 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1138;1000g2015aug_all=0.0640974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:67:110,0,67 1 2539532 rs10910108 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502556.5,ENST00000378412.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5367;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.329;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.4885;1000g2015aug_all=0.532149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 2541269 rs10797440 A G 2490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=209;ExcessHet=3.0103;FS=1.697;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.762;SOR=0.856;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=exonic;Gene=NM_033467;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MMEL1:NM_033467:exon5:c.T294C:p.A98A;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.33;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.4885;1000g2015aug_all=0.53155;esp6500siv2_all=0.4413;ExAC_ALL=0.4114;ExAC_AFR=0.6580;ExAC_AMR=0.4510;ExAC_EAS=0.4963;ExAC_FIN=0.3750;ExAC_NFE=0.3330;ExAC_OTH=0.4188;ExAC_SAS=0.5257;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:114,95:209:99:2519,0,2996 1 2542653 rs10910111 A G 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.171;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.114;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.331;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.4942;1000g2015aug_all=0.538938;esp6500siv2_all=0.4287;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:297,0,236 1 2560735 rs4648657 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=-1.51;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"4143:(GCACGG)n(Simple_repeat)";avsnp150=rs4648657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.549;1000g2015aug_all=0.517772;esp6500siv2_all=0.6524;ExAC_ALL=0.5842;ExAC_AFR=0.4935;ExAC_AMR=0.6351;ExAC_EAS=0.5198;ExAC_FIN=0.5833;ExAC_NFE=0.6938;ExAC_OTH=0.5484;ExAC_SAS=0.5437;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:65:65,0,163 1 2560882 rs4648658 G A 112.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.389;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.98;SOR=0.991;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=exonic;Gene=NM_033467;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MMEL1:NM_033467:exon2:c.C42T:p.A14A;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.672;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.5101;1000g2015aug_all=0.461462;esp6500siv2_all=0.5905;ExAC_ALL=0.5836;ExAC_AFR=0.3582;ExAC_AMR=0.5909;ExAC_EAS=0.5;ExAC_FIN=0.7658;ExAC_NFE=0.6964;ExAC_OTH=0.5349;ExAC_SAS=0.5387;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:99:141,0,479 1 2560903 rs4648659 T G 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.296;DP=17;ExcessHet=3.0103;FS=1.957;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.586;SOR=0.729;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=exonic;Gene=NM_033467;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MMEL1:NM_033467:exon2:c.A21C:p.P7P;Gencode=Name\x3eENST00000378412.7,ENST00000502556.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.5519;1000g2015aug_all=0.515775;esp6500siv2_all=0.6404;ExAC_ALL=0.6089;ExAC_AFR=0.5069;ExAC_AMR=0.6069;ExAC_EAS=0.5;ExAC_FIN=0.7778;ExAC_NFE=0.7072;ExAC_OTH=0.5347;ExAC_SAS=0.5528;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:251,0,530 1 2564183 rs6698817 T C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=0.328;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMEL1;Func=intronic;Gene=NM_033467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378412.7,ENST00000427302.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.5519;1000g2015aug_all=0.517372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,142 1 2573199 rs4648662 A G 984.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.368;DP=83;ExcessHet=3.0103;FS=1.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.657;SOR=0.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC34;Func=exonic;Gene=NM_001242672;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTC34:NM_001242672:exon7:c.T1309C:p.L437L;Gencode=Name\x3eENST00000401095.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.8847;1000g2015aug_all=0.934704;esp6500siv2_all=.;ExAC_ALL=0.9058;ExAC_AFR=0.9699;ExAC_AMR=0.9351;ExAC_EAS=1;ExAC_FIN=0.8425;ExAC_NFE=0.8764;ExAC_OTH=0.8676;ExAC_SAS=0.9152;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,37:82:99:1013,0,1239 1 2797856 rs10797342 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001242672,NM_080431;GeneDetail=dist\x3e91626\x3bdist\x3e140191;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5417;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.4138;1000g2015aug_amr=0.5937;1000g2015aug_all=0.505591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2800118 rs4233022 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001242672,NM_080431;GeneDetail=dist\x3e93888\x3bdist\x3e137929;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9703;1000g2015aug_eur=1;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.9798;1000g2015aug_all=0.939896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2811018 rs2842928 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001242672,NM_080431;GeneDetail=dist\x3e104788\x3bdist\x3e127029;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.997005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2892924 rs12096719 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001242672,NM_080431;GeneDetail=dist\x3e186695\x3bdist\x3e45122;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.67;1000g2015aug_all=0.503594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 2938989 rs3795263 G A 1882.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.812;DP=146;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.215;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTRT2;Func=exonic;Gene=NM_080431;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ACTRT2:NM_080431:exon1:c.G739A:p.G247R;Gencode=Name\x3eENST00000378404.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.093;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.121;1000g2015aug_all=0.122005;esp6500siv2_all=0.1713;ExAC_ALL=0.1763;ExAC_AFR=0.0414;ExAC_AMR=0.0903;ExAC_EAS=0.1414;ExAC_FIN=0.1879;ExAC_NFE=0.2372;ExAC_OTH=0.1523;ExAC_SAS=0.0921;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=4.01;MutationAssessor_pred=H;FATHMM_score=-4.24;FATHMM_pred=D;phyloP100way_vertebrate=6.676;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=11.170;gerp++gt2=4.85;CADD=5.231;CADD_Phred=25.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,73:146:99:1911,0,2097 1 2984087 rs2297829 C A 3902.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00982;Func=ncRNA_exonic;Gene=NR_015440,NR_024371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.3847;1000g2015aug_all=0.313698;esp6500siv2_all=.;ExAC_ALL=0.3914;ExAC_AFR=0.1767;ExAC_AMR=0.3977;ExAC_EAS=0.4021;ExAC_FIN=0.5;ExAC_NFE=0.3925;ExAC_OTH=0.4394;ExAC_SAS=0.4046;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3931,354,0 1 2985885 rs7413494 C G 513.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000270722.9,ENST00000378391.6,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7413494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.363;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.5;1000g2015aug_all=0.360224;esp6500siv2_all=0.3045;ExAC_ALL=0.4600;ExAC_AFR=0.1853;ExAC_AMR=0.6254;ExAC_EAS=0.5985;ExAC_FIN=0.5837;ExAC_NFE=0.4481;ExAC_OTH=0.4798;ExAC_SAS=0.4066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:542,39,0 1 3027905 rs66492337 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000270722.9,ENST00000378391.6,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66492337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.138;1000g2015aug_eur=0.0785;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.1282;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3027920 rs68018581 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000270722.9,ENST00000378391.6,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs68018581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.138;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.1282;1000g2015aug_all=0.210663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3029212 rs10909875 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10909875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.379;1000g2015aug_amr=0.0648;1000g2015aug_all=0.14996;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3040764 rs2012731 G A 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2012731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.9153;1000g2015aug_amr=0.4841;1000g2015aug_all=0.630791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 3044652 rs35529420 C T 854.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.152;DP=69;ExcessHet=3.0103;FS=0.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.597;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35529420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0175719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,31:69:99:883,0,1039 1 3044871 rs35951269 T C 423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.93;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.3;ReadPosRankSum=-0.263;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35951269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:452,0,159 1 3061283 rs1875449 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000270722.9,ENST00000378391.6,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1875449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.3228;1000g2015aug_all=0.314497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3092744 rs201590415 T C 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378391.6,ENST00000270722.9,ENST00000514189.5,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e437\x3bName\x3e"4600:(CCAT)n(Simple_repeat)";avsnp150=rs201590415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 3092748 rs868866356 C T 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270722.9,ENST00000378391.6,ENST00000514189.5,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e437\x3bName\x3e"4600:(CCAT)n(Simple_repeat)";avsnp150=rs868866356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 3098715 rs2817134 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000378391.6,ENST00000270722.9,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.8934;1000g2015aug_all=0.789537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3106954 rs2817141 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000514189.5,ENST00000378391.6,ENST00000270722.9;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.9452;1000g2015aug_all=0.935703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3109151 rs7539775 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000378391.6,ENST00000270722.9,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7539775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.2088;1000g2015aug_amr=0.6916;1000g2015aug_all=0.542732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 3116658 rs2651923 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000514189.5,ENST00000378391.6,ENST00000270722.9;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2651923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9734;1000g2015aug_eur=0.9901;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.992812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 3131930 rs7534095 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000514189.5,ENST00000378391.6,ENST00000270722.9;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3131933 rs7534096 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000514189.5,ENST00000270722.9,ENST00000378391.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3158844 rs2500253 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000514189.5,ENST00000270722.9,ENST00000378391.6,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.1744;1000g2015aug_all=0.235623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 3161315 . G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=29.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000378391.6,ENST00000270722.9,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3161322 . G C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=27.88;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270722.9,ENST00000378391.6,ENST00000514189.5,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3161324 . G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=27.45;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3161329 . T G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=30.47;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000514189.5,ENST00000378391.6,ENST00000270722.9;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3161333 . T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=29.96;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3161345 . A T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=31.68;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000378391.6,ENST00000270722.9,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 3212946 rs2500289 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000378391.6,ENST00000270722.9,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"4689:L2c(LINE)";avsnp150=rs2500289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.2262;1000g2015aug_amr=0.5533;1000g2015aug_all=0.422524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3215320 rs2455143 A T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=-0.652;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378391.6,ENST00000270722.9,ENST00000514189.5,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2455143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.6859;1000g2015aug_all=0.516773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:78,0,70 1 3328358 rs870124 T C 1427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.588;DP=95;ExcessHet=3.0103;FS=1.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.847;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=exonic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;Gencode=Name\x3eENST00000378391.6,ENST00000270722.9,ENST00000514189.5,ENST00000511072.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs870124;cosmic70=.;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9006;1000g2015aug_all=0.945088;esp6500siv2_all=0.8777;ExAC_ALL=0.8897;ExAC_AFR=0.9721;ExAC_AMR=0.9243;ExAC_EAS=0.9998;ExAC_FIN=0.9099;ExAC_NFE=0.8404;ExAC_OTH=0.8873;ExAC_SAS=0.9508;SIFT_score=0.651;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=3.38;FATHMM_pred=T;phyloP100way_vertebrate=2.031;phyloP20way_mammalian=0.058;SiPhy_29way_logOdds=14.274;gerp++gt2=5.33;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,52:95:99:1456,0,1202 1 3331154 rs201338158 C T 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.636;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.089;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=exonic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRDM16:NM_022114:exon10:c.C2634T:p.P878P,PRDM16:NM_199454:exon10:c.C2634T:p.P878P;Gencode=Name\x3eENST00000511072.5,ENST00000270722.9,ENST00000378391.6,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs201338158;cosmic70=.;CLNALLELEID=228452;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0009;ExAC_ALL=0.0006;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0010;ExAC_OTH=0.0012;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,23:51:99:603,0,802 1 3342968 rs75861985 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=intronic;Gene=NM_022114,NM_199454;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511072.5,ENST00000378391.6,ENST00000270722.9,ENST00000514189.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75861985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0513179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 3353949 rs2493264 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM16;Func=UTR3;Gene=NM_022114,NM_199454;GeneDetail=NM_022114:c.*3574A>G\x3bNM_199454:c.*3574A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270722.9;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.8228;1000g2015aug_all=0.902756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3356795 rs2493262 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022114,NM_014448;GeneDetail=dist\x3e1610\x3bdist\x3e14352;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.8545;1000g2015aug_all=0.904952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3374360 rs12745860 C T 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12745860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.745;1000g2015aug_all=0.669129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 3374384 rs12758368 T A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12758368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.745;1000g2015aug_all=0.669728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 3383038 rs947351 G A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.77;ReadPosRankSum=-0.566;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.255;1000g2015aug_all=0.212061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:99:375,0,125 1 3383593 rs3893316 G T 1053.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=5.211;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3893316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.7565;1000g2015aug_all=0.697684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1082,81,0 1 3383665 rs7550948 G A 2574.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=2.062;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.388;1000g2015aug_amr=0.7536;1000g2015aug_all=0.681909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2603,222,0 1 3383898 rs6424078 A G 3221.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=2.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=exonic;Gene=NM_014448;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF16:NM_014448:exon4:c.A801G:p.P267P;Gencode=Name\x3eENST00000378371.6,ENST00000378373.5,ENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.8343;1000g2015aug_all=0.860024;esp6500siv2_all=0.8974;ExAC_ALL=0.9026;ExAC_AFR=0.8715;ExAC_AMR=0.8590;ExAC_EAS=0.8070;ExAC_FIN=0.9;ExAC_NFE=0.9228;ExAC_OTH=0.9121;ExAC_SAS=0.8988;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:3250,276,0 1 3385129 rs2493250 G A 283.8 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.42;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.6036;1000g2015aug_amr=0.9352;1000g2015aug_all=0.877396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:21:312,21,0 1 3385139 rs2487673 G T 325.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2487673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.9135;1000g2015aug_all=0.840455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:354,24,0 1 3385250 rs1417897 C A 592.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.687;DP=37;ExcessHet=3.0103;FS=2.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=1.521;SOR=1.338;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1417897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7103;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.6138;1000g2015aug_all=0.515375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,19:37:99:621,0,730 1 3385256 rs1891143 A G 728.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.993;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-2.01;SOR=0.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.525;1000g2015aug_amr=0.487;1000g2015aug_all=0.496805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,23:44:99:757,0,796 1 3385330 rs2493249 T C 2925.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378371.6,ENST00000378373.5,ENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.9856;1000g2015aug_all=0.969649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2954,255,0 1 3389727 rs2185639 C T 4220.77 PASS AC=2;AF=1;AN=2;DP=139;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=exonic;Gene=NM_014448;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2185639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.865;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.385;1000g2015aug_amr=0.755;1000g2015aug_all=0.684505;esp6500siv2_all=0.7354;ExAC_ALL=0.8050;ExAC_AFR=0.4548;ExAC_AMR=0.6769;ExAC_EAS=0.6607;ExAC_FIN=0.9028;ExAC_NFE=0.8731;ExAC_OTH=0.8497;ExAC_SAS=0.8753;SIFT_score=0.476;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=L;FATHMM_score=0.07;FATHMM_pred=T;phyloP100way_vertebrate=1.729;phyloP20way_mammalian=0.925;SiPhy_29way_logOdds=7.811;gerp++gt2=3.43;CADD=1.043;CADD_Phred=10.90;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,139:139:99:4249,416,0 1 3390238 rs2493323 T A 919.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.9928;1000g2015aug_all=0.971446;esp6500siv2_all=.;ExAC_ALL=0.9923;ExAC_AFR=0.9171;ExAC_AMR=0.9961;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9988;ExAC_OTH=0.9910;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:948,84,0 1 3391022 rs2493322 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378371.6,ENST00000378378.8,ENST00000378373.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.9323;1000g2015aug_all=0.875799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 3394456 rs4638054 T C 2256.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=1.678;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=exonic;Gene=NM_014448;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S;Gencode=Name\x3eENST00000378371.6,ENST00000378378.8,ENST00000378373.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4638054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.9928;1000g2015aug_all=0.970647;esp6500siv2_all=0.9684;ExAC_ALL=0.9903;ExAC_AFR=0.9036;ExAC_AMR=0.9943;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9944;ExAC_SAS=0.9986;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2285,207,0 1 3394640 rs4422946 A G 3363.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4422946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.9703;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.8328;1000g2015aug_amr=0.9352;1000g2015aug_all=0.89976;esp6500siv2_all=0.9125;ExAC_ALL=0.9338;ExAC_AFR=0.8462;ExAC_AMR=0.9475;ExAC_EAS=0.8724;ExAC_FIN=0.9592;ExAC_NFE=0.9410;ExAC_OTH=0.9345;ExAC_SAS=0.9716;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,102:102:99:3392,306,0 1 3394674 rs4534324 T C 2648.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.58;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378373.5,ENST00000378378.8,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4534324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.9928;1000g2015aug_all=0.971446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2677,234,0 1 3395039 rs10797395 G A 5996.77 PASS AC=2;AF=1;AN=2;DP=190;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=exonic;Gene=NM_014448;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V;Gencode=Name\x3eENST00000378371.6,ENST00000378373.5,ENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.7637;1000g2015aug_all=0.686102;esp6500siv2_all=0.7342;ExAC_ALL=0.8037;ExAC_AFR=0.4608;ExAC_AMR=0.6739;ExAC_EAS=0.6602;ExAC_FIN=0.9019;ExAC_NFE=0.8707;ExAC_OTH=0.8517;ExAC_SAS=0.8743;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,190:190:99:6025,569,0 1 3395229 rs4553117 T C 1354.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378378.8,ENST00000378373.5,ENST00000378371.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4553117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9914;1000g2015aug_all=0.973442;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1383,102,0 1 3396609 rs881978 C T 1458.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.53;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=intronic;Gene=NM_014448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378371.6,ENST00000378373.5,ENST00000378378.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs881978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7579;1000g2015aug_all=0.679912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1487,114,0 1 3397188 rs2487677 T C 628.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF16;Func=UTR3;Gene=NM_014448;GeneDetail=NM_014448:c.*37T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378371.6,ENST00000378378.8,ENST00000378373.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2487677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9697;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991813;esp6500siv2_all=0.9927;ExAC_ALL=0.9978;ExAC_AFR=0.9752;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=0.9995;ExAC_NFE=1.0000;ExAC_OTH=0.9988;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:657,57,0 1 3413426 rs12405358 A G 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=15;ExcessHet=3.0103;FS=9.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-0.573;SOR=0.029;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12405358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.2168;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.382;1000g2015aug_amr=0.3156;1000g2015aug_all=0.29393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:328,0,193 1 3413868 rs4648506 C G 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.429;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-0.293;SOR=0.612;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=exonic;Gene=NM_001409;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MEGF6:NM_001409:exon27:c.G3410C:p.G1137A;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.2924;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.146;1000g2015aug_amr=0.3357;1000g2015aug_all=0.24401;esp6500siv2_all=0.2216;ExAC_ALL=0.3153;ExAC_AFR=0.1770;ExAC_AMR=0.3315;ExAC_EAS=0.2005;ExAC_FIN=0.3873;ExAC_NFE=0.3293;ExAC_OTH=0.3135;ExAC_SAS=0.3637;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.942;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.902;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.979;MutationTaster_pred=P;MutationAssessor_score=3.55;MutationAssessor_pred=H;FATHMM_score=-0.09;FATHMM_pred=T;phyloP100way_vertebrate=0.800;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=6.295;gerp++gt2=.;CADD=3.174;CADD_Phred=22.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:444,0,311 1 3414105 rs10909951 C T 1263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.059;DP=88;ExcessHet=3.0103;FS=4.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.864;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294599.8,ENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10909951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.18;1000g2015aug_amr=0.4006;1000g2015aug_all=0.334265;esp6500siv2_all=.;ExAC_ALL=0.5189;ExAC_AFR=0.2238;ExAC_AMR=0.4481;ExAC_EAS=0.2753;ExAC_FIN=0.5;ExAC_NFE=0.5296;ExAC_OTH=0.5366;ExAC_SAS=0.5617;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,45:88:99:1292,0,1065 1 3416449 rs7553399 C A 1186.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=exonic;Gene=NM_001409;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MEGF6:NM_001409:exon22:c.G2747T:p.R916L;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.6556;1000g2015aug_all=0.568291;esp6500siv2_all=0.6374;ExAC_ALL=0.7228;ExAC_AFR=0.4706;ExAC_AMR=0.6195;ExAC_EAS=0.5114;ExAC_FIN=0.7426;ExAC_NFE=0.7526;ExAC_OTH=0.7636;ExAC_SAS=0.7840;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.045;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.098;Polyphen2_HVAR_pred=B;LRT_score=0.683;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.805;MutationAssessor_pred=L;FATHMM_score=-0.28;FATHMM_pred=T;phyloP100way_vertebrate=-1.812;phyloP20way_mammalian=-1.291;SiPhy_29way_logOdds=10.162;gerp++gt2=.;CADD=2.090;CADD_Phred=16.79;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1215,108,0 1 3417131 rs2821031 A G 3018.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=1.28;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"4888:(TG)n(Simple_repeat)";avsnp150=rs2821031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.864;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.817;1000g2015aug_all=0.738618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:3047,276,0 1 3417960 rs4648507 G A 1158.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4663;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.6671;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1187,108,0 1 3418171 rs7516662 A G 172.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.8328;1000g2015aug_amr=0.9683;1000g2015aug_all=0.943091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:201,18,0 1 3418391 rs4648508 C T 1245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.786;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=exonic;Gene=NM_001409;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MEGF6:NM_001409:exon18:c.G2283A:p.P761P;Gencode=Name\x3eENST00000294599.8,ENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.336;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.2882;1000g2015aug_all=0.286142;esp6500siv2_all=0.2708;ExAC_ALL=0.3124;ExAC_AFR=0.2094;ExAC_AMR=0.2729;ExAC_EAS=0.3236;ExAC_FIN=0.3453;ExAC_NFE=0.3222;ExAC_OTH=0.3386;ExAC_SAS=0.3388;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,49:95:99:1274,0,1125 1 3418565 rs2821030 T C 987.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.45;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294599.8,ENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1016,84,0 1 3428110 rs143945772 G A 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.374;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=-0.338;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294599.8,ENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143945772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00339457;esp6500siv2_all=0.0009;ExAC_ALL=0.0021;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0.0209;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0012;ExAC_SAS=6.983e-05;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:298,0,86 1 3440647 rs2794322 T C 617.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.32;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294599.8,ENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.9524;1000g2015aug_all=0.937899;esp6500siv2_all=0.9588;ExAC_ALL=0.9493;ExAC_AFR=0.9391;ExAC_AMR=0.9515;ExAC_EAS=0.8862;ExAC_FIN=0.9850;ExAC_NFE=0.9633;ExAC_OTH=0.9462;ExAC_SAS=0.9193;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:646,54,0 1 3440824 rs10797399 G A 895.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.886;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.388;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8,ENST00000294599.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.2622;1000g2015aug_all=0.220447;esp6500siv2_all=0.2437;ExAC_ALL=0.2706;ExAC_AFR=0.1571;ExAC_AMR=0.2269;ExAC_EAS=0.2095;ExAC_FIN=0.3384;ExAC_NFE=0.3027;ExAC_OTH=0.2955;ExAC_SAS=0.2437;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,37:62:99:924,0,620 1 3463690 . G C 196.9 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.62;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:15:225,15,0 1 3489819 rs2794349 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.3055;1000g2015aug_all=0.405751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3495437 rs2794342 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3495469 rs56044258 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56044258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.789;1000g2015aug_amr=0.8458;1000g2015aug_all=0.796326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3495541 rs2821053 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.837;1000g2015aug_afr=0.702;1000g2015aug_amr=0.817;1000g2015aug_all=0.761382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3496328 rs2821051 T C 495.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9105;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.8718;1000g2015aug_all=0.790535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:524,45,0 1 3496479 rs2794340 T C 769.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=exonic;Gene=NM_001409;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MEGF6:NM_001409:exon4:c.A391G:p.S131G;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.8919;1000g2015aug_all=0.852835;esp6500siv2_all=0.9042;ExAC_ALL=0.8831;ExAC_AFR=0.8634;ExAC_AMR=0.8712;ExAC_EAS=0.6875;ExAC_FIN=0.9095;ExAC_NFE=0.9112;ExAC_OTH=0.9132;ExAC_SAS=0.8815;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.014;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.655;MutationAssessor_pred=N;FATHMM_score=-2.92;FATHMM_pred=D;phyloP100way_vertebrate=0.204;phyloP20way_mammalian=-0.052;SiPhy_29way_logOdds=8.494;gerp++gt2=4.35;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:798,72,0 1 3512188 rs7554061 C T 1238.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.7;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.5703;1000g2015aug_amr=0.2305;1000g2015aug_all=0.253395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1267,102,0 1 3512341 rs2794327 C T 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.6715;1000g2015aug_all=0.597444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,73 1 3518857 rs2821014 A C 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9947;1000g2015aug_amr=1;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 3518944 rs7521546 T C 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.61;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.458;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.6326;1000g2015aug_all=0.61881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:294,0,286 1 3519179 rs2794330 C T 450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.46;DP=44;ExcessHet=3.0103;FS=2.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.89;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.4697;1000g2015aug_all=0.425519;esp6500siv2_all=0.3801;ExAC_ALL=0.4156;ExAC_AFR=0.4457;ExAC_AMR=0.5774;ExAC_EAS=0.4799;ExAC_FIN=0.3842;ExAC_NFE=0.3614;ExAC_OTH=0.4141;ExAC_SAS=0.4771;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,19:44:99:479,0,708 1 3520331 rs2794356 C A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.954;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.7262;1000g2015aug_amr=0.9741;1000g2015aug_all=0.90635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 3520539 rs2794355 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=intronic;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.954;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.9712;1000g2015aug_all=0.89357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3527944 rs10797402 C G 1145.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEGF6;Func=UTR5;Gene=NM_001409;GeneDetail=NM_001409:c.-112G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356575.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.954;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.9813;1000g2015aug_all=0.936701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1174,99,0 1 3528082 rs10797403 T C 720.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.931;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.994;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9914;1000g2015aug_all=0.983227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:749,66,0 1 3537362 rs4648400 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001409,NM_182752;GeneDetail=dist\x3e9303\x3bdist\x3e4194;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7944\x3bName\x3e"4993:LTR13(LTR)";avsnp150=rs4648400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.7176;1000g2015aug_all=0.853435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 3543951 rs16823922 G A 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.011;DP=23;ExcessHet=3.0103;FS=4.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.603;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPRG1L;Func=intronic;Gene=NM_182752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378344.6,ENST00000344579.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16823922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0788738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:322,0,398 1 3544868 rs16823926 C T 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.992;DP=20;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=1.07;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPRG1L;Func=intronic;Gene=NM_182752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378344.6,ENST00000344579.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16823926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0788738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:198,0,369 1 3545250 rs3795257 T G 206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.623;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.225;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPRG1L;Func=UTR3;Gene=NM_182752;GeneDetail=NM_182752:c.*83T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344579.5,ENST00000378344.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0790735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:235,0,277 1 3548136 rs2760321 T C 3975.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.015;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=exonic;Gene=NM_017818;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=WRAP73:NM_017818:exon11:c.A1134G:p.A378A;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2760321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9479;1000g2015aug_eur=0.836;1000g2015aug_afr=0.8926;1000g2015aug_amr=0.8458;1000g2015aug_all=0.90615;esp6500siv2_all=0.8505;ExAC_ALL=0.8727;ExAC_AFR=0.8771;ExAC_AMR=0.8693;ExAC_EAS=0.9971;ExAC_FIN=0.8891;ExAC_NFE=0.8402;ExAC_OTH=0.8681;ExAC_SAS=0.9303;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:4004,357,0 1 3548449 rs2821071 A G 246.77 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.42;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=intronic;Gene=NM_017818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"5004:(T)n(Simple_repeat)";avsnp150=rs2821071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9632;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9452;1000g2015aug_all=0.955871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:25:229,25,0 1 3548542 rs2244942 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.431;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=intronic;Gene=NM_017818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.5734;1000g2015aug_amr=0.2781;1000g2015aug_all=0.434704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 3548832 rs2760320 G C 906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.269;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.35;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=exonic;Gene=NM_017818;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WRAP73:NM_017818:exon10:c.C993G:p.I331M;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2760320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.1398;1000g2015aug_all=0.0491214;esp6500siv2_all=0.0498;ExAC_ALL=0.0673;ExAC_AFR=0.0301;ExAC_AMR=0.1940;ExAC_EAS=0.0007;ExAC_FIN=0.0475;ExAC_NFE=0.0642;ExAC_OTH=0.0673;ExAC_SAS=0.0572;SIFT_score=0.28;SIFT_pred=T;Polyphen2_HDIV_score=0.027;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.283;MutationTaster_pred=P;MutationAssessor_score=0.61;MutationAssessor_pred=N;FATHMM_score=1.58;FATHMM_pred=T;phyloP100way_vertebrate=-1.254;phyloP20way_mammalian=-1.146;SiPhy_29way_logOdds=10.552;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,40:87:99:935,0,1259 1 3551792 rs2296034 G A 983.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.656;DP=106;ExcessHet=3.0103;FS=2.829;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-0.777;SOR=1.095;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=exonic;Gene=NM_017818;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=WRAP73:NM_017818:exon7:c.C670T:p.L224L;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0786741;esp6500siv2_all=0.0312;ExAC_ALL=0.0736;ExAC_AFR=0.0085;ExAC_AMR=0.1131;ExAC_EAS=0.2257;ExAC_FIN=0.0501;ExAC_NFE=0.0494;ExAC_OTH=0.0817;ExAC_SAS=0.1138;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,36:105:99:1012,0,1907 1 3553789 rs2821058 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=intronic;Gene=NM_017818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.993;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3564231 rs12086552 C G 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.131;DP=43;ExcessHet=3.0103;FS=4.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.78;SOR=0.111;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=intronic;Gene=NM_017818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270708.11,ENST00000378322.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12086552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0398;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.0922;1000g2015aug_all=0.165335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:613,0,717 1 3566433 rs1004649 T G 795.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.028;DP=47;ExcessHet=3.0103;FS=4.371;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.206;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWRAP73;Func=intronic;Gene=NM_017818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378322.7,ENST00000270708.11;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1004649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0398;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.062;1000g2015aug_all=0.0794728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,28:47:99:824,0,404 1 3607520 rs3765730 G A 1845.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378280.5,ENST00000378295.8,ENST00000378288.8,ENST00000604479.5,ENST00000603362.5,ENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.2305;1000g2015aug_all=0.236821;esp6500siv2_all=0.2643;ExAC_ALL=0.3542;ExAC_AFR=0.0797;ExAC_AMR=0.3182;ExAC_EAS=0.4364;ExAC_FIN=0.4634;ExAC_NFE=0.4021;ExAC_OTH=0.3325;ExAC_SAS=0.2979;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1874,174,0 1 3611960 rs3765732 G A 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604479.5,ENST00000603362.5,ENST00000378288.8,ENST00000378295.8,ENST00000378280.5,ENST00000378285.5,ENST00000604074.5,ENST00000354437.8,ENST00000357733.7,ENST00000346387.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8439;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.683;1000g2015aug_all=0.711262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 3621479 rs3765749 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378285.5,ENST00000604074.5,ENST00000354437.8,ENST00000357733.7,ENST00000346387.8,ENST00000604479.5,ENST00000603362.5,ENST00000378295.8,ENST00000378288.8,ENST00000378290.4,ENST00000378280.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3681;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2464;1000g2015aug_all=0.266174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3634459 rs3765765 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346387.8,ENST00000357733.7,ENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000378280.5,ENST00000378290.4,ENST00000378295.8,ENST00000378288.8,ENST00000603362.5,ENST00000604479.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.3545;1000g2015aug_all=0.3123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3634660 rs3765766 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378280.5,ENST00000378290.4,ENST00000378288.8,ENST00000378295.8,ENST00000603362.5,ENST00000604479.5,ENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.8012;1000g2015aug_all=0.639976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3638674 rs1801174 C T 4862.77 PASS AC=2;AF=1;AN=2;DP=161;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.837;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=exonic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TP73:NM_001126240:exon3:c.C372T:p.T124T,TP73:NM_001126241:exon3:c.C372T:p.T124T,TP73:NM_001126242:exon3:c.C372T:p.T124T,TP73:NM_001204189:exon3:c.C372T:p.T124T,TP73:NM_001204190:exon3:c.C372T:p.T124T,TP73:NM_001204191:exon3:c.C372T:p.T124T,TP73:NM_001204192:exon3:c.C306T:p.T102T,TP73:NM_001204184:exon5:c.C519T:p.T173T,TP73:NM_001204185:exon5:c.C519T:p.T173T,TP73:NM_001204186:exon5:c.C519T:p.T173T,TP73:NM_001204187:exon5:c.C519T:p.T173T,TP73:NM_001204188:exon5:c.C519T:p.T173T,TP73:NM_005427:exon5:c.C519T:p.T173T;Gencode=Name\x3eENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000346387.8,ENST00000357733.7,ENST00000378280.5,ENST00000378290.4,ENST00000378295.8,ENST00000378288.8,ENST00000603362.5,ENST00000604479.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1801174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.728;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.7738;1000g2015aug_amr=0.7219;1000g2015aug_all=0.736022;esp6500siv2_all=0.8495;ExAC_ALL=0.8101;ExAC_AFR=0.7695;ExAC_AMR=0.6204;ExAC_EAS=0.5180;ExAC_FIN=0.8475;ExAC_NFE=0.8972;ExAC_OTH=0.8303;ExAC_SAS=0.7576;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,161:161:99:4891,480,0 1 3640085 rs6424091 C G 651.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357733.7,ENST00000346387.8,ENST00000378285.5,ENST00000604074.5,ENST00000354437.8,ENST00000603362.5,ENST00000604479.5,ENST00000378288.8,ENST00000378295.8,ENST00000378290.4,ENST00000378280.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.6988;1000g2015aug_all=0.736621;esp6500siv2_all=0.8389;ExAC_ALL=0.7677;ExAC_AFR=0.8418;ExAC_AMR=0.6095;ExAC_EAS=0.5397;ExAC_FIN=0.8068;ExAC_NFE=0.8377;ExAC_OTH=0.7598;ExAC_SAS=0.6805;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:680,60,0 1 3644085 rs10910017 G A 422.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.61;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378280.5,ENST00000378290.4,ENST00000378288.8,ENST00000378295.8,ENST00000603362.5,ENST00000604479.5,ENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.2507;1000g2015aug_all=0.221446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:451,36,0 1 3644349 rs2181486 A G 1468.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378280.5,ENST00000378290.4,ENST00000378288.8,ENST00000378295.8,ENST00000603362.5,ENST00000604479.5,ENST00000354437.8,ENST00000604074.5,ENST00000378285.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2181486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.825;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.6758;1000g2015aug_all=0.64996;esp6500siv2_all=0.7878;ExAC_ALL=0.7240;ExAC_AFR=0.7653;ExAC_AMR=0.6801;ExAC_EAS=0.3803;ExAC_FIN=0.85;ExAC_NFE=0.7880;ExAC_OTH=0.6985;ExAC_SAS=0.6743;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1497,147,0 1 3644374 rs2146657 A G 1255.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604479.5,ENST00000603362.5,ENST00000378290.4,ENST00000378280.5,ENST00000378288.8,ENST00000378295.8,ENST00000378285.5,ENST00000354437.8,ENST00000604074.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2146657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.828;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.6758;1000g2015aug_all=0.64996;esp6500siv2_all=0.7939;ExAC_ALL=0.7272;ExAC_AFR=0.7555;ExAC_AMR=0.6770;ExAC_EAS=0.3520;ExAC_FIN=0.84;ExAC_NFE=0.7783;ExAC_OTH=0.725;ExAC_SAS=0.6724;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1284,120,0 1 3645835 rs2254530 C A 1251.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=3.334;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378288.8,ENST00000378295.8,ENST00000378280.5,ENST00000378290.4,ENST00000603362.5,ENST00000604479.5,ENST00000604074.5,ENST00000354437.8,ENST00000378285.5,ENST00000357733.7,ENST00000346387.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.115;1000g2015aug_amr=0.5807;1000g2015aug_all=0.398163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1280,87,0 1 3645844 rs2096224 G A 1244.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604074.5,ENST00000354437.8,ENST00000378285.5,ENST00000357733.7,ENST00000346387.8,ENST00000378295.8,ENST00000378288.8,ENST00000378280.5,ENST00000378290.4,ENST00000603362.5,ENST00000604479.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2096224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.6153;1000g2015aug_all=0.539736;esp6500siv2_all=0.6732;ExAC_ALL=0.6694;ExAC_AFR=0.4641;ExAC_AMR=0.5629;ExAC_EAS=0.4816;ExAC_FIN=0.7132;ExAC_NFE=0.7756;ExAC_OTH=0.6761;ExAC_SAS=0.5268;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1273,90,0 1 3646137 rs11589885 C T 1898.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357733.7,ENST00000346387.8,ENST00000604074.5,ENST00000354437.8,ENST00000378285.5,ENST00000378295.8,ENST00000378288.8,ENST00000378280.5,ENST00000378290.4,ENST00000604479.5,ENST00000603362.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.5807;1000g2015aug_all=0.397564;esp6500siv2_all=0.5751;ExAC_ALL=0.6271;ExAC_AFR=0.2433;ExAC_AMR=0.5662;ExAC_EAS=0.3167;ExAC_FIN=0.6770;ExAC_NFE=0.7433;ExAC_OTH=0.6289;ExAC_SAS=0.5025;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1927,174,0 1 3646192 rs1885867 G A 2455.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378285.5,ENST00000354437.8,ENST00000604074.5,ENST00000346387.8,ENST00000357733.7,ENST00000604479.5,ENST00000603362.5,ENST00000378290.4,ENST00000378280.5,ENST00000378295.8,ENST00000378288.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.833;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.6628;1000g2015aug_all=0.597444;esp6500siv2_all=0.7393;ExAC_ALL=0.7228;ExAC_AFR=0.6529;ExAC_AMR=0.6216;ExAC_EAS=0.3927;ExAC_FIN=0.7618;ExAC_NFE=0.8033;ExAC_OTH=0.7185;ExAC_SAS=0.6353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2484,177,0 1 3646214 rs1885866 T C 2349.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.17;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357733.7,ENST00000346387.8,ENST00000604074.5,ENST00000354437.8,ENST00000378285.5,ENST00000378295.8,ENST00000378288.8,ENST00000378280.5,ENST00000378290.4,ENST00000604479.5,ENST00000603362.5;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.833;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.6715;1000g2015aug_all=0.626398;esp6500siv2_all=0.7625;ExAC_ALL=0.7261;ExAC_AFR=0.7117;ExAC_AMR=0.6224;ExAC_EAS=0.3944;ExAC_FIN=0.7649;ExAC_NFE=0.8040;ExAC_OTH=0.7179;ExAC_SAS=0.6316;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2378,168,0 1 3646291 rs1885865 G A 1497.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378285.5,ENST00000354437.8,ENST00000604074.5,ENST00000346387.8,ENST00000357733.7,ENST00000604479.5,ENST00000603362.5,ENST00000378290.4,ENST00000378280.5,ENST00000378295.8,ENST00000378288.8;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.831;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.6628;1000g2015aug_all=0.597045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1526,150,0 1 3647962 rs1745813 T C 1015.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTP73;Func=intronic;Gene=NM_001126240,NM_001126241,NM_001126242,NM_001204184,NM_001204185,NM_001204186,NM_001204187,NM_001204188,NM_001204189,NM_001204190,NM_001204191,NM_001204192,NM_005427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000603362.5,ENST00000604479.5,ENST00000378290.4,ENST00000378280.5,ENST00000378288.8,ENST00000378295.8,ENST00000378285.5,ENST00000354437.8,ENST00000604074.5,ENST00000346387.8,ENST00000357733.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1745813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.5092;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.621;1000g2015aug_all=0.549521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1044,93,0 1 3680643 rs1181878 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=intronic;Gene=NM_152492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1181878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.304;1000g2015aug_all=0.252995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 3683349 rs16824081 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=intronic;Gene=NM_152492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16824081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.072;1000g2015aug_all=0.125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 3683690 rs1181873 A C 802.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.258;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.09;MQRankSum=-3.867;QD=16.72;ReadPosRankSum=-0.956;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=intronic;Gene=NM_152492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2385\x3bName\x3e"5192:AluSc(SINE)";avsnp150=rs1181873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.6997;1000g2015aug_amr=0.2752;1000g2015aug_all=0.365415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,27:48:99:831,0,631 1 3684107 rs1181872 T A 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.579;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.309;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=intronic;Gene=NM_152492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1181872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.8011;1000g2015aug_amr=0.3343;1000g2015aug_all=0.438898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:244,0,316 1 3686415 rs41315316 C T 1661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.125;DP=106;ExcessHet=3.0103;FS=0.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.49;SOR=0.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=exonic;Gene=NM_152492;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CCDC27:NM_152492:exon11:c.C1812T:p.N604N;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41315316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.0173;1000g2015aug_all=0.01877;esp6500siv2_all=0.0436;ExAC_ALL=0.0423;ExAC_AFR=0.0247;ExAC_AMR=0.0203;ExAC_EAS=0.0001;ExAC_FIN=0.0655;ExAC_NFE=0.0602;ExAC_OTH=0.0397;ExAC_SAS=0.0095;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,59:106:99:1690,0,1305 1 3688030 rs3737592 C G 761.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.019;DP=52;ExcessHet=3.0103;FS=1.08;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.899;SOR=0.928;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC27;Func=exonic;Gene=NM_152492;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CCDC27:NM_152492:exon12:c.C1914G:p.P638P;Gencode=Name\x3eENST00000294600.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.072;1000g2015aug_all=0.111222;esp6500siv2_all=0.1377;ExAC_ALL=0.0856;ExAC_AFR=0.2569;ExAC_AMR=0.0538;ExAC_EAS=0.0050;ExAC_FIN=0.0831;ExAC_NFE=0.0860;ExAC_OTH=0.0949;ExAC_SAS=0.0415;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,30:52:99:790,0,592 1 3691727 rs1175549 A C 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-0.755;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMIM1;Func=intronic;Gene=NM_001163724,NM_001288583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444870.6,ENST00000561886.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e249\x3bName\x3e"5201:MIRc(SINE)";avsnp150=rs1175549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.1628;1000g2015aug_all=0.253195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,228 1 3692240 rs2282455 T C 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=1.368;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMIM1;Func=intronic;Gene=NM_001163724,NM_001288583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444870.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.379;1000g2015aug_amr=0.4107;1000g2015aug_all=0.474241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:159,0,194 1 3692241 rs71634364 G A 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=1.368;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMIM1;Func=intronic;Gene=NM_001163724,NM_001288583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444870.6;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71634364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.146;1000g2015aug_amr=0.062;1000g2015aug_all=0.0750799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:159,0,194 1 3692749 rs7531757 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001163724,NM_001288583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0882588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3692750 rs7540647 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001163724,NM_001288583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0882588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 3695305 rs71634370 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001288583,NM_020710;GeneDetail=dist\x3e2759\x3bdist\x3e1479;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71634370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0894569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 3698017 rs12745312 G A 354.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.498;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=2.803;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12745312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.1023;1000g2015aug_all=0.111821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,16:22:99:383,0,117 1 3698224 rs17411384 G C 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.366;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17411384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.0591;1000g2015aug_all=0.077476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:154,0,62 1 3700430 rs36124273 G T 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.793;DP=20;ExcessHet=3.0103;FS=8.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.198;SOR=2.566;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36124273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.146;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0748802;esp6500siv2_all=.;ExAC_ALL=0.1467;ExAC_AFR=0.1781;ExAC_AMR=0.0976;ExAC_EAS=0.0417;ExAC_FIN=0.25;ExAC_NFE=0.1557;ExAC_OTH=0.1579;ExAC_SAS=0.0708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:198,0,381 1 3701491 rs2996426 A G 996.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2237\x3bName\x3e"5212:AluSp(SINE)";avsnp150=rs2996426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6597;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.5159;1000g2015aug_all=0.69988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1025,81,0 1 3701580 rs57217928 G C 942.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.472;DP=70;ExcessHet=3.0103;FS=3.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.198;SOR=1.181;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000607459.1,ENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57217928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.1023;1000g2015aug_all=0.110623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,33:69:99:971,0,1046 1 3701663 rs2298227 T C 1311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.208;DP=111;ExcessHet=3.0103;FS=0.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.192;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=exonic;Gene=NM_020710;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRRC47:NM_020710:exon3:c.A1182G:p.P394P;Gencode=Name\x3eENST00000607459.1,ENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.1023;1000g2015aug_all=0.108427;esp6500siv2_all=0.1150;ExAC_ALL=0.1141;ExAC_AFR=0.1361;ExAC_AMR=0.1197;ExAC_EAS=0.1294;ExAC_FIN=0.1397;ExAC_NFE=0.1158;ExAC_OTH=0.1175;ExAC_SAS=0.0674;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,52:110:99:1340,0,1493 1 3701832 rs71634371 C A 677.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.052;DP=47;ExcessHet=3.0103;FS=1.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.578;SOR=0.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2,ENST00000607459.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71634371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.152;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,26:47:99:706,0,600 1 3703337 rs2368537 G C 612.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2368537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.4539;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:641,51,0 1 3704041 rs7527973 C T 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.191;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=1.602;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC47;Func=intronic;Gene=NM_020710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378251.2;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.1354;1000g2015aug_all=0.160543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:73:267,0,73 1 3718069 rs6703539 C T 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.816;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020710,NM_014704;GeneDetail=dist\x3e5001\x3bdist\x3e10576;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3926\x3bName\x3e"5248:LTR13(LTR)";avsnp150=rs6703539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.1758;1000g2015aug_all=0.306909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:109,0,105 1 3723195 rs4587513 A G 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020710,NM_014704;GeneDetail=dist\x3e10127\x3bdist\x3e5450;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8224\x3bName\x3e"5256:LTR13(LTR)";avsnp150=rs4587513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.8585;1000g2015aug_amr=0.3862;1000g2015aug_all=0.488219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 3723203 rs4366262 T C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.68;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020710,NM_014704;GeneDetail=dist\x3e10135\x3bdist\x3e5442;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8224\x3bName\x3e"5256:LTR13(LTR)";avsnp150=rs4366262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.5101;1000g2015aug_all=0.690096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 3723227 rs12120370 A C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020710,NM_014704;GeneDetail=dist\x3e10159\x3bdist\x3e5418;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8224\x3bName\x3e"5256:LTR13(LTR)";avsnp150=rs12120370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.8585;1000g2015aug_amr=0.3862;1000g2015aug_all=0.488219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 3731657 rs34060840 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=UTR3;Gene=NM_014704;GeneDetail=NM_014704:c.*309G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34060840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.085;1000g2015aug_all=0.135383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 3731959 rs12729542 C T 3037.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.283;DP=168;ExcessHet=3.0103;FS=1.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0.573;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=UTR3;Gene=NM_014704;GeneDetail=NM_014704:c.*7G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12729542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0301518;esp6500siv2_all=0.0658;ExAC_ALL=0.1032;ExAC_AFR=0.0232;ExAC_AMR=0.0727;ExAC_EAS=0.0035;ExAC_FIN=0.1304;ExAC_NFE=0.1459;ExAC_OTH=0.0975;ExAC_SAS=0.0551;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,80:168:99:3066,0,5230 1 3731965 rs12728401 G A 3091.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.44;DP=168;ExcessHet=3.0103;FS=1.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-0.325;SOR=0.801;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=UTR3;Gene=NM_014704;GeneDetail=NM_014704:c.*1C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.0764;1000g2015aug_all=0.103035;esp6500siv2_all=0.1344;ExAC_ALL=0.1560;ExAC_AFR=0.1719;ExAC_AMR=0.0846;ExAC_EAS=0.0520;ExAC_FIN=0.2042;ExAC_NFE=0.1828;ExAC_OTH=0.1721;ExAC_SAS=0.1213;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,83:168:99:3120,0,5142 1 3732103 rs4648409 T C 4807.77 PASS AC=2;AF=1;AN=2;DP=145;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.4611;1000g2015aug_all=0.656749;esp6500siv2_all=0.6527;ExAC_ALL=0.6229;ExAC_AFR=0.8634;ExAC_AMR=0.5589;ExAC_EAS=0.5891;ExAC_FIN=0.6343;ExAC_NFE=0.5814;ExAC_OTH=0.6687;ExAC_SAS=0.6974;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,145:145:99:4836,435,0 1 3732172 rs4233019 C T 2590.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=2.598;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.4611;1000g2015aug_all=0.656749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2619,251,0 1 3732452 rs4648410 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1965\x3bName\x3e"5276:AluSx1(SINE)";avsnp150=rs4648410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.4611;1000g2015aug_all=0.65615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 3732596 rs6662706 G T 1278.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=2.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.882;1000g2015aug_amr=0.3357;1000g2015aug_all=0.459665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1307,111,0 1 3732639 rs6702916 T A 1836.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.278;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.9138;1000g2015aug_amr=0.4611;1000g2015aug_all=0.65655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1865,174,0 1 3732707 rs6702935 T C 2409.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.9138;1000g2015aug_amr=0.4611;1000g2015aug_all=0.65635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2438,225,0 1 3732782 rs6703035 T C 3369.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.125;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.5101;1000g2015aug_all=0.691494;esp6500siv2_all=.;ExAC_ALL=0.6782;ExAC_AFR=0.8676;ExAC_AMR=0.5929;ExAC_EAS=0.6524;ExAC_FIN=0.6687;ExAC_NFE=0.5944;ExAC_OTH=0.6699;ExAC_SAS=0.7205;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3398,309,0 1 3734371 rs1104855 G C 31.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e435\x3bName\x3e"5278:MLT1H(LTR)";avsnp150=rs1104855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.4597;1000g2015aug_all=0.655351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:59,6,0 1 3738214 rs4648413 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1880\x3bName\x3e"5289:L1MC5(LINE)";avsnp150=rs4648413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5408;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.4539;1000g2015aug_all=0.613019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 3738332 rs4648414 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1880\x3bName\x3e"5289:L1MC5(LINE)";avsnp150=rs4648414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.513;1000g2015aug_all=0.697085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3742257 rs12759497 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.601;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12759497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.085;1000g2015aug_all=0.140775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,186 1 3743109 rs2275834 A G 1486.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.513;1000g2015aug_all=0.697284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1515,105,0 1 3743132 rs4648344 T C 1545.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.3329;1000g2015aug_all=0.422125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1574,111,0 1 3743151 rs4648345 G A 396.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.898;DP=33;ExcessHet=3.0103;FS=1.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.628;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.0764;1000g2015aug_all=0.103035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,15:33:99:425,0,482 1 3743319 rs6663840 G A 1194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.457;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.623;SOR=0.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.328;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.3055;1000g2015aug_all=0.473442;esp6500siv2_all=0.3805;ExAC_ALL=0.3864;ExAC_AFR=0.5512;ExAC_AMR=0.4124;ExAC_EAS=0.5591;ExAC_FIN=0.3191;ExAC_NFE=0.3089;ExAC_OTH=0.3852;ExAC_SAS=0.5143;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,53:96:99:1223,0,915 1 3743391 rs6688969 C T 753.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.639;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.773;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.2853;1000g2015aug_all=0.329073;esp6500siv2_all=0.2709;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,30:66:99:782,0,928 1 3745787 rs2275832 T C 919.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.513;1000g2015aug_all=0.697684;esp6500siv2_all=0.6711;ExAC_ALL=0.6272;ExAC_AFR=0.8907;ExAC_AMR=0.5913;ExAC_EAS=0.6784;ExAC_FIN=0.6646;ExAC_NFE=0.5700;ExAC_OTH=0.6562;ExAC_SAS=0.6873;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:948,90,0 1 3746254 rs2275830 T C 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 3746585 rs2275827 T G 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.175;DP=25;ExcessHet=3.0103;FS=4.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.685;SOR=2.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.1931;1000g2015aug_all=0.163938;esp6500siv2_all=0.2260;ExAC_ALL=0.2269;ExAC_AFR=0.1479;ExAC_AMR=0.1682;ExAC_EAS=0.1197;ExAC_FIN=0.3443;ExAC_NFE=0.2619;ExAC_OTH=0.2561;ExAC_SAS=0.1803;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:441,0,333 1 3746589 rs2275826 C G 838.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=0.9395;ExAC_ALL=0.8589;ExAC_AFR=0.9076;ExAC_AMR=0.7315;ExAC_EAS=0.4859;ExAC_FIN=0.9053;ExAC_NFE=0.9494;ExAC_OTH=0.8725;ExAC_SAS=0.7236;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:63:867,63,0 1 3746710 rs17403773 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17403773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.0764;1000g2015aug_all=0.103435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 3747603 rs6413779 T C 1038.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6413779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=0.9396;ExAC_ALL=0.8587;ExAC_AFR=0.9074;ExAC_AMR=0.7329;ExAC_EAS=0.4829;ExAC_FIN=0.9061;ExAC_NFE=0.9497;ExAC_OTH=0.8722;ExAC_SAS=0.7245;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1067,84,0 1 3750167 rs2368533 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2368533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.8689;1000g2015aug_all=0.790335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3753013 rs12746541 G C 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.842;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12746541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.1787;1000g2015aug_all=0.272564;esp6500siv2_all=0.3237;ExAC_ALL=0.2463;ExAC_AFR=0.4861;ExAC_AMR=0.1466;ExAC_EAS=0.0434;ExAC_FIN=0.2246;ExAC_NFE=0.2602;ExAC_OTH=0.2545;ExAC_SAS=0.2408;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 3755675 rs1891941 T C 2631.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=exonic;Gene=NM_014704;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CEP104:NM_014704:exon8:c.A744G:p.E248E;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=0.9396;ExAC_ALL=0.8584;ExAC_AFR=0.9075;ExAC_AMR=0.7321;ExAC_EAS=0.4837;ExAC_FIN=0.9061;ExAC_NFE=0.9496;ExAC_OTH=0.8733;ExAC_SAS=0.7233;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2660,240,0 1 3755869 rs1891940 T C 373.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:402,27,0 1 3755875 rs1891939 T G 331.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:360,24,0 1 3756493 rs7535887 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e307\x3bName\x3e"5321:MIRb(SINE)";avsnp150=rs7535887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8746;1000g2015aug_all=0.808906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3759784 rs10797347 A G 1322.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789537;esp6500siv2_all=.;ExAC_ALL=0.8273;ExAC_AFR=0.8943;ExAC_AMR=0.8493;ExAC_EAS=0.4712;ExAC_FIN=0.9193;ExAC_NFE=0.9475;ExAC_OTH=0.8544;ExAC_SAS=0.7372;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.506;phyloP20way_mammalian=-0.745;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1351,137,0 1 3761650 rs2275821 A G 1235.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1264,108,0 1 3761772 rs7538067 C T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.414;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7,ENST00000378223.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1195;1000g2015aug_amr=0.1441;1000g2015aug_all=0.122804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 3762080 rs6699785 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1383\x3bName\x3e"5329:AluJb(SINE)";avsnp150=rs6699785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.8689;1000g2015aug_all=0.789137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 3764216 rs10492942 C T 411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.31;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.127;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7,ENST00000378223.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10492942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1455;1000g2015aug_all=0.1252;esp6500siv2_all=0.2085;ExAC_ALL=0.1930;ExAC_AFR=0.1272;ExAC_AMR=0.0972;ExAC_EAS=0.0005;ExAC_FIN=0.2939;ExAC_NFE=0.2417;ExAC_OTH=0.2285;ExAC_SAS=0.1616;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:440,0,447 1 3765424 rs10492943 G T 140.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.536;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.563;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10492943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.0764;1000g2015aug_all=0.103235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:169,0,252 1 3765549 rs4648346 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7,ENST00000378223.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.8689;1000g2015aug_all=0.785743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3768565 rs1122613 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1122613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.2349;1000g2015aug_all=0.365415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 3768719 rs1539647 T C 760.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.31;DP=37;ExcessHet=3.0103;FS=3.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.56;ReadPosRankSum=0.122;SOR=0.117;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1539647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.6354;1000g2015aug_all=0.434904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,20:37:99:789,0,1285 1 3768729 rs1539648 T C 795.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.903;DP=39;ExcessHet=3.0103;FS=3.099;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.507;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1539648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.6354;1000g2015aug_all=0.438698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:824,0,1321 1 3769033 rs3819006 A T 2210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.017;DP=117;ExcessHet=3.0103;FS=1.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.341;SOR=0.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3819006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.2305;1000g2015aug_all=0.319089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,58:117:99:2239,0,3613 1 3769034 rs3819007 A T 2210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.374;DP=116;ExcessHet=3.0103;FS=1.645;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=-0.171;SOR=0.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378230.7,ENST00000378223.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3819007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.2305;1000g2015aug_all=0.319089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,57:116:99:2239,0,3613 1 3769231 rs6657021 A G 134.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP104;Func=intronic;Gene=NM_014704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378223.3,ENST00000378230.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.6354;1000g2015aug_all=0.436102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:162,12,0 1 3774130 rs34891610 A G 559.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.662;DP=29;ExcessHet=3.0103;FS=5.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.3;ReadPosRankSum=1.091;SOR=1.378;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=UTR5;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=NM_001282669:c.-38A>G\x3bNM_001320132:c.-8152A>G\x3bNM_001320136:c.-8197A>G\x3bNM_004402:c.-38A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000625756.2,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34891610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.2248;1000g2015aug_all=0.310304;esp6500siv2_all=0.3051;ExAC_ALL=0.3336;ExAC_AFR=0.4719;ExAC_AMR=0.2835;ExAC_EAS=0.1986;ExAC_FIN=0.3456;ExAC_NFE=0.3249;ExAC_OTH=0.3602;ExAC_SAS=0.3390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:588,0,734 1 3774138 rs12723005 T C 587.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.671;DP=30;ExcessHet=3.0103;FS=5.71;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.314;SOR=1.219;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=UTR5;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=NM_001282669:c.-30T>C\x3bNM_001320132:c.-8144T>C\x3bNM_001320136:c.-8189T>C\x3bNM_004402:c.-30T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338895.7,ENST00000625756.2,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12723005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.2248;1000g2015aug_all=0.310304;esp6500siv2_all=0.3118;ExAC_ALL=0.3690;ExAC_AFR=0.4987;ExAC_AMR=0.3376;ExAC_EAS=0.2301;ExAC_FIN=0.3794;ExAC_NFE=0.3614;ExAC_OTH=0.3879;ExAC_SAS=0.3746;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:616,0,728 1 3774296 rs12722891 A G 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.231;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338895.7,ENST00000341385.4,ENST00000625756.2,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12722891;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.2248;1000g2015aug_all=0.310304;esp6500siv2_all=0.2825;ExAC_ALL=0.3634;ExAC_AFR=0.5162;ExAC_AMR=0.3173;ExAC_EAS=0.2261;ExAC_FIN=0.3790;ExAC_NFE=0.3601;ExAC_OTH=0.3393;ExAC_SAS=0.3572;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:96:96,0,144 1 3774312 rs12726906 T C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000625756.2,ENST00000341385.4,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12726906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.2248;1000g2015aug_all=0.310304;esp6500siv2_all=0.2603;ExAC_ALL=0.3601;ExAC_AFR=0.512;ExAC_AMR=0.3266;ExAC_EAS=0.2184;ExAC_FIN=0.3709;ExAC_NFE=0.3526;ExAC_OTH=0.33;ExAC_SAS=0.3540;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 3775454 rs4376673 C G 1931.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.77;SOR=2.876;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000341385.4,ENST00000625756.2,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4376673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.9697;1000g2015aug_amr=0.8703;1000g2015aug_all=0.813299;esp6500siv2_all=0.9544;ExAC_ALL=0.8670;ExAC_AFR=0.9574;ExAC_AMR=0.7353;ExAC_EAS=0.5127;ExAC_FIN=0.9030;ExAC_NFE=0.9472;ExAC_OTH=0.8793;ExAC_SAS=0.7523;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1960,162,0 1 3776989 rs12129902 C T 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.054;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=0.418;SOR=0.264;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000625756.2,ENST00000341385.4,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1651\x3bName\x3e"5352:AluJb(SINE)";avsnp150=rs12129902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.261;1000g2015aug_amr=0.0893;1000g2015aug_all=0.139377;esp6500siv2_all=.;ExAC_ALL=0.1328;ExAC_AFR=0.2742;ExAC_AMR=0.1222;ExAC_EAS=0.0606;ExAC_FIN=.;ExAC_NFE=0.1874;ExAC_OTH=0.1182;ExAC_SAS=0.1114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.637;phyloP20way_mammalian=-0.582;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=1.671;CADD_Phred=14.25;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:365,0,292 1 3782115 rs12127483 G A 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.064;DP=39;ExcessHet=3.0103;FS=3.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.414;SOR=0.314;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000341385.4,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.1354;1000g2015aug_all=0.0936502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,23:39:99:640,0,393 1 3782608 rs10909809 C T 580.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.029;DP=36;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=1.393;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000341385.4,ENST00000338895.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10909809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.5346;1000g2015aug_all=0.434305;esp6500siv2_all=0.5944;ExAC_ALL=0.5975;ExAC_AFR=0.3140;ExAC_AMR=0.4461;ExAC_EAS=0.3425;ExAC_FIN=0.6410;ExAC_NFE=0.6938;ExAC_OTH=0.5678;ExAC_SAS=0.5066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:609,0,609 1 3783278 rs10909810 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341385.4,ENST00000338895.7,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1741\x3bName\x3e"5368:L1MB3(LINE)";avsnp150=rs10909810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.6513;1000g2015aug_all=0.576278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3784454 rs76754622 T C 583.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.822;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.577;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338895.7,ENST00000341385.4,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76754622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0874601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,22:34:99:612,0,387 1 3786189 rs1141070 G A 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.31;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.747;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=exonic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DFFB:NM_001282669:exon5:c.G603A:p.T201T,DFFB:NM_001320132:exon5:c.G384A:p.T128T,DFFB:NM_001320136:exon5:c.G339A:p.T113T,DFFB:NM_004402:exon5:c.G531A:p.T177T;Gencode=Name\x3eENST00000341385.4,ENST00000338895.7,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1141070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.2277;1000g2015aug_all=0.214257;esp6500siv2_all=0.3069;ExAC_ALL=0.2939;ExAC_AFR=0.1677;ExAC_AMR=0.1520;ExAC_EAS=0.1384;ExAC_FIN=0.3086;ExAC_NFE=0.3653;ExAC_OTH=0.2860;ExAC_SAS=0.2606;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:196,0,371 1 3786612 rs5013486 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000338895.7,ENST00000341385.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"5377:MLT1B(LTR)";avsnp150=rs5013486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.3364;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.3329;1000g2015aug_all=0.282748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 3786706 rs5013484 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000338895.7,ENST00000341385.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5013484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1419;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.2925;1000g2015aug_all=0.266573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 3788968 rs111645751 G A 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.29;DP=30;ExcessHet=3.0103;FS=1.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.624;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341385.4,ENST00000338895.7,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2311\x3bName\x3e"5381:AluSc(SINE)";avsnp150=rs111645751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.1772;1000g2015aug_all=0.0922524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,16:30:99:395,0,410 1 3789662 rs11581471 A G 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=-0.82;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=intronic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378209.7,ENST00000338895.7,ENST00000341385.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1055\x3bName\x3e"5383:AluJo(SINE)";avsnp150=rs11581471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.637;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.5879;1000g2015aug_all=0.635184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:298,0,131 1 3800242 rs3205087 A G 1093.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.139;DP=101;ExcessHet=3.0103;FS=0.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.161;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=exonic;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DFFB:NM_001282669:exon7:c.A1026G:p.P342P,DFFB:NM_001320132:exon7:c.A807G:p.P269P,DFFB:NM_001320136:exon7:c.A762G:p.P254P,DFFB:NM_004402:exon7:c.A954G:p.P318P;Gencode=Name\x3eENST00000338895.7,ENST00000341385.4,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3205087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.3256;1000g2015aug_all=0.355831;esp6500siv2_all=0.4129;ExAC_ALL=0.3971;ExAC_AFR=0.3391;ExAC_AMR=0.2580;ExAC_EAS=0.3335;ExAC_FIN=0.3716;ExAC_NFE=0.4409;ExAC_OTH=0.4108;ExAC_SAS=0.3969;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,45:101:99:1122,0,1276 1 3800480 rs7555538 G T 56.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.718;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-0.641;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFB;Func=UTR3;Gene=NM_001282669,NM_001320132,NM_001320136,NM_004402;GeneDetail=NM_001282669:c.*175G>T\x3bNM_001320132:c.*175G>T\x3bNM_001320136:c.*175G>T\x3bNM_004402:c.*175G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338895.7,ENST00000378209.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.3271;1000g2015aug_all=0.355631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:85:85,0,237 1 3806643 rs4520357 T A 216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.967;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=0.43;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf174;Func=intronic;Gene=NM_207356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361605.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4520357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.3602;1000g2015aug_all=0.421526;esp6500siv2_all=0.3794;ExAC_ALL=0.3546;ExAC_AFR=0.5392;ExAC_AMR=0.3493;ExAC_EAS=0.4151;ExAC_FIN=0.3854;ExAC_NFE=0.3178;ExAC_OTH=0.3514;ExAC_SAS=0.3465;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,10:12:48:245,0,48 1 3807593 rs4274008 G C 2454.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf174;Func=exonic;Gene=NM_207356;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf174:NM_207356:exon3:c.C158G:p.T53R;Gencode=Name\x3eENST00000361605.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4274008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.993;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9986;1000g2015aug_all=0.997804;esp6500siv2_all=0.9941;ExAC_ALL=0.9941;ExAC_AFR=0.9988;ExAC_AMR=0.9980;ExAC_EAS=0.9999;ExAC_FIN=0.9941;ExAC_NFE=0.9912;ExAC_OTH=0.9978;ExAC_SAS=0.9968;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.08;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;phyloP100way_vertebrate=0.120;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.550;gerp++gt2=4.36;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2483,224,0 1 3809423 rs11807227 G A 1167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.962;DP=108;ExcessHet=3.0103;FS=0.72;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.561;SOR=0.614;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf174;Func=intronic;Gene=NM_207356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361605.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11807227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.1595;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.1006;1000g2015aug_amr=0.1124;1000g2015aug_all=0.145567;esp6500siv2_all=0.1164;ExAC_ALL=0.1597;ExAC_AFR=0.1089;ExAC_AMR=0.1412;ExAC_EAS=0.2474;ExAC_FIN=0.2019;ExAC_NFE=0.1489;ExAC_OTH=0.1788;ExAC_SAS=0.1822;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,47:108:99:1196,0,1745 1 3812848 rs10797353 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf174;Func=intronic;Gene=NM_207356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361605.3;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6453\x3bName\x3e"5429:L1M4b(LINE)";avsnp150=rs10797353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.6268;1000g2015aug_all=0.664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 3816854 rs61770363 G A 206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.68;ReadPosRankSum=0;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf174;Func=UTR5;Gene=NM_207356;GeneDetail=NM_207356:c.-104C>T;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61770363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.1104;1000g2015aug_amr=0.111;1000g2015aug_all=0.148363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:235,0,53 1 3816895 rs75740327 C T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_207356,NR_024455;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"5435:(C)n(Simple_repeat)";avsnp150=rs75740327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 4036413 rs7526523 G A 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e23770\x3bdist\x3e435698;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e966\x3bName\x3e"5588:L2a(LINE)";avsnp150=rs7526523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.4806;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.5793;1000g2015aug_all=0.441494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 4036424 rs7551254 C T 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e23781\x3bdist\x3e435687;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e966\x3bName\x3e"5588:L2a(LINE)";avsnp150=rs7551254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.4806;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.5807;1000g2015aug_all=0.453275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 4045327 rs4654538 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e32684\x3bdist\x3e426784;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.8559;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 4059750 rs4654559 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e47107\x3bdist\x3e412361;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.907;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.9092;1000g2015aug_all=0.889976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4070571 rs35579324 A T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e57928\x3bdist\x3e401540;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35579324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.1859;1000g2015aug_all=0.220048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,155 1 4070588 rs35474759 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e57945\x3bdist\x3e401523;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35474759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.1859;1000g2015aug_all=0.220048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,194 1 4083031 rs12023925 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e70388\x3bdist\x3e389080;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12023925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.508;1000g2015aug_afr=0.6664;1000g2015aug_amr=0.3545;1000g2015aug_all=0.511382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4103800 rs34911143 C G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e91157\x3bdist\x3e368311;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=Score\x3e0.907716\x3bName\x3echr1:98356909;Repeat=.;avsnp150=rs34911143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.1081;1000g2015aug_all=0.0776757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:76,0,69 1 4120173 rs6426378 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107530\x3bdist\x3e351938;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4155\x3bName\x3e"5729:L1PA3(LINE)";avsnp150=rs6426378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.4308;1000g2015aug_all=0.324681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 4120195 rs7411353 C A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107552\x3bdist\x3e351916;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7411353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4120205 rs6426379 G C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107562\x3bdist\x3e351906;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.9352;1000g2015aug_all=0.8752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4120356 rs6426380 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107713\x3bdist\x3e351755;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.9308;1000g2015aug_all=0.846845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4120499 rs4233255 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107856\x3bdist\x3e351612;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.9308;1000g2015aug_all=0.847244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4120591 rs4654476 A G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107948\x3bdist\x3e351520;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.9352;1000g2015aug_all=0.875399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4120594 rs4654477 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.11;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e107951\x3bdist\x3e351517;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.9352;1000g2015aug_all=0.875399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4123204 rs12044274 A T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e110561\x3bdist\x3e348907;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12044274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.6772;1000g2015aug_all=0.579872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 4123486 rs12728781 C T 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e110843\x3bdist\x3e348625;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.4294;1000g2015aug_all=0.403554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 4189629 rs7536041 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e176986\x3bdist\x3e282482;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.6513;1000g2015aug_all=0.545527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4192308 rs10915441 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e179665\x3bdist\x3e279803;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4653;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.5259;1000g2015aug_all=0.38139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 4193410 rs10799206 C G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.62;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e180767\x3bdist\x3e278701;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.9798;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4193426 rs12409803 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.86;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e180783\x3bdist\x3e278685;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12409803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.5533;1000g2015aug_all=0.390974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 4235683 rs4654500 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e223040\x3bdist\x3e236428;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.171;1000g2015aug_amr=0.1484;1000g2015aug_all=0.201478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 4235768 rs4654501 G A 369.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e223125\x3bdist\x3e236343;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.6936;1000g2015aug_amr=0.8213;1000g2015aug_all=0.776158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:398,33,0 1 4236437 rs4531262 C T 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e223794\x3bdist\x3e235674;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3139\x3bName\x3e"5913:MER4B(LTR)";avsnp150=rs4531262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.7035;1000g2015aug_amr=0.8141;1000g2015aug_all=0.778355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 4240178 rs4233264 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e227535\x3bdist\x3e231933;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.8156;1000g2015aug_all=0.782149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4268870 rs4130091 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e256227\x3bdist\x3e203241;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4130091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9479;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.9496;1000g2015aug_all=0.938299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 4275876 rs4615813 G C 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e263233\x3bdist\x3e196235;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4615813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.951;1000g2015aug_all=0.909345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 4275947 rs28600106 C T 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e263304\x3bdist\x3e196164;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28600106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.177;1000g2015aug_amr=0.3242;1000g2015aug_all=0.304912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 4291146 rs12067495 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e278503\x3bdist\x3e180965;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1890\x3bName\x3e"6013:AluJb(SINE)";avsnp150=rs12067495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.1873;1000g2015aug_all=0.232628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4291262 rs6426406 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e278619\x3bdist\x3e180849;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1890\x3bName\x3e"6013:AluJb(SINE)";avsnp150=rs6426406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.7507;1000g2015aug_all=0.672324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 4291287 rs16840968 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e278644\x3bdist\x3e180824;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16840968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.1124;1000g2015aug_all=0.136182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4411347 rs675895 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040065,NR_027088;GeneDetail=dist\x3e398704\x3bdist\x3e60764;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs675895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.337;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.3184;1000g2015aug_all=0.416534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4486095 rs4654537 A G 129.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.98;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e1351\x3bdist\x3e145452;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.8458;1000g2015aug_all=0.736621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:158,15,0 1 4495091 rs7546444 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e10347\x3bdist\x3e136456;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"6384:AluSz(SINE)";avsnp150=rs7546444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.8444;1000g2015aug_all=0.740815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4496329 rs1762813 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e11585\x3bdist\x3e135218;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1762813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.964;1000g2015aug_all=0.9373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4496517 rs1674876 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e11773\x3bdist\x3e135030;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e298\x3bName\x3e"6388:LTR16E1(LTR)";avsnp150=rs1674876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.964;1000g2015aug_all=0.937101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 4500436 rs12731060 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e15692\x3bdist\x3e131111;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"6401:LTR79(LTR)";avsnp150=rs12731060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.5101;1000g2015aug_all=0.502995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4505966 rs780587 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e21222\x3bdist\x3e125581;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e313\x3bName\x3e"6411:L2c(LINE)";avsnp150=rs780587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.9611;1000g2015aug_all=0.888978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4558792 rs10915548 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e74048\x3bdist\x3e72755;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.295;1000g2015aug_amr=0.3818;1000g2015aug_all=0.397764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 4566065 rs4654440 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e81321\x3bdist\x3e65482;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.5817;1000g2015aug_amr=0.6844;1000g2015aug_all=0.632188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4566175 rs4654551 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e81431\x3bdist\x3e65372;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.6844;1000g2015aug_all=0.630192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4576797 rs1710430 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e92053\x3bdist\x3e54750;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1710430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.8674;1000g2015aug_all=0.79393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4619393 rs241265 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027088,NR_147025;GeneDetail=dist\x3e134649\x3bdist\x3e12154;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e326\x3bName\x3e"6615:L2b(LINE)";avsnp150=rs241265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.18;1000g2015aug_amr=0.2983;1000g2015aug_all=0.267971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4642157 rs241223 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_147025;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420522.1;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs241223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.8674;1000g2015aug_all=0.863219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4666494 rs164780 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147025,NM_018836;GeneDetail=dist\x3e22730\x3bdist\x3e48611;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.7478;1000g2015aug_all=0.760783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4686158 rs114153410 G A 46.88 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147025,NM_018836;GeneDetail=dist\x3e42394\x3bdist\x3e28947;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e190\x3bName\x3e"6716:L2b(LINE)";avsnp150=rs114153410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.118;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0561102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:16:75,0,16 1 4716334 . G C 107.28 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=30.16;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=intronic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:9:135,9,0 1 4724231 rs12135245 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=intronic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e666\x3bName\x3e"6787:MIR(SINE)";avsnp150=rs12135245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.3559;1000g2015aug_all=0.1873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4727243 rs6663166 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=intronic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.9496;1000g2015aug_all=0.913339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 4727290 rs12138132 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=intronic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.031;1000g2015aug_amr=0.1254;1000g2015aug_all=0.0998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 4772053 rs1061968 T C 848.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.898;DP=58;ExcessHet=3.0103;FS=2.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.568;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=exonic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AJAP1:NM_001042478:exon2:c.T123C:p.C41C,AJAP1:NM_018836:exon2:c.T123C:p.C41C;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.5828;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5014;1000g2015aug_all=0.526757;esp6500siv2_all=0.4111;ExAC_ALL=0.4616;ExAC_AFR=0.5168;ExAC_AMR=0.6554;ExAC_EAS=0.6680;ExAC_FIN=0.3899;ExAC_NFE=0.3781;ExAC_OTH=0.4128;ExAC_SAS=0.5440;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,30:57:99:877,0,718 1 4772717 rs242056 G A 2462.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=exonic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R;Gencode=Name\x3eENST00000378190.7,ENST00000378191.4;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs242056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.3761;1000g2015aug_all=0.360823;esp6500siv2_all=0.5241;ExAC_ALL=0.5284;ExAC_AFR=0.2346;ExAC_AMR=0.2865;ExAC_EAS=0.2568;ExAC_FIN=0.5495;ExAC_NFE=0.6596;ExAC_OTH=0.5527;ExAC_SAS=0.4748;SIFT_score=0.261;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.892;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.829;MutationTaster_pred=P;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_pred=T;phyloP100way_vertebrate=1.474;phyloP20way_mammalian=0.994;SiPhy_29way_logOdds=13.265;gerp++gt2=4.76;CADD=2.786;CADD_Phred=21.3;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2491,237,0 1 4829795 rs3950181 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAJAP1;Func=intronic;Gene=NM_001042478,NM_018836;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378191.4,ENST00000378190.7;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3950181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.137;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.1095;1000g2015aug_all=0.126597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 4996185 rs10915683 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e152334\x3bdist\x3e627946;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.3674;1000g2015aug_all=0.406949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 5005796 rs7542048 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e161945\x3bdist\x3e618335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.3934;1000g2015aug_all=0.466454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 5178649 rs9439503 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.01;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e334798\x3bdist\x3e445482;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3424\x3bName\x3e"7553:LTR7(LTR)";avsnp150=rs9439503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.7738;1000g2015aug_all=0.792332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5178672 rs9439504 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.01;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e334821\x3bdist\x3e445459;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3424\x3bName\x3e"7553:LTR7(LTR)";avsnp150=rs9439504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.7709;1000g2015aug_all=0.784744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5191828 rs11588537 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e347977\x3bdist\x3e432303;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.32;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1753\x3bName\x3e"7587:MLT1A(LTR)";avsnp150=rs11588537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.8359;1000g2015aug_amr=0.7997;1000g2015aug_all=0.822684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 5373002 . G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e529151\x3bdist\x3e251129;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e511\x3bName\x3e"7899:MIR(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5373009 rs557017799 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e529158\x3bdist\x3e251122;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e511\x3bName\x3e"7899:MIR(SINE)";avsnp150=rs557017799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5390759 rs4847557 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018836,NR_039612;GeneDetail=dist\x3e546908\x3bdist\x3e233372;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4847557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9683;1000g2015aug_all=0.989018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 5623965 rs9439613 C T 784.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_039612;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9439613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.4583;1000g2015aug_afr=0.261;1000g2015aug_amr=0.4035;1000g2015aug_all=0.395168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:813,78,0 1 5678950 rs12743905 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e54747\x3bdist\x3e243782;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413887.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e381\x3bName\x3e"8426:L2a(LINE)";avsnp150=rs12743905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.205;1000g2015aug_amr=0.4063;1000g2015aug_all=0.298722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5678956 rs12743909 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e54753\x3bdist\x3e243776;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413887.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e381\x3bName\x3e"8426:L2a(LINE)";avsnp150=rs12743909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.205;1000g2015aug_amr=0.4063;1000g2015aug_all=0.297125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5712831 rs707590 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e88628\x3bdist\x3e209901;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413887.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs707590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.5;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.5692;1000g2015aug_all=0.651757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 5728012 rs1763335 C T 49.31 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e103809\x3bdist\x3e194720;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413887.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=Score\x3e0.913137\x3bName\x3echrUn_KI270442v1:267311;Repeat=.;avsnp150=rs1763335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.184;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.0885;1000g2015aug_amr=0.2709;1000g2015aug_all=0.24401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:1:75,0,1 1 5731700 rs80221431 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e107497\x3bdist\x3e191032;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=Score\x3e0.917359\x3bName\x3echr20:29780989;Repeat=.;avsnp150=rs80221431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5731701 rs79075013 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e107498\x3bdist\x3e191031;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=Score\x3e0.917359\x3bName\x3echr20:29780989;Repeat=.;avsnp150=rs79075013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5731731 rs79592270 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e107528\x3bdist\x3e191001;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=Score\x3e0.917359\x3bName\x3echr20:29780989;Repeat=.;avsnp150=rs79592270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5731740 rs77948710 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e107537\x3bdist\x3e190992;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=Score\x3e0.917359\x3bName\x3echr20:29780989;Repeat=.;avsnp150=rs77948710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5734328 rs78511102 T C 62.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.51;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e110125\x3bdist\x3e188404;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5795\x3bName\x3e"8528:L1MEc(LINE)";avsnp150=rs78511102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:90,6,0 1 5734336 rs79220967 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e110133\x3bdist\x3e188396;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5795\x3bName\x3e"8528:L1MEc(LINE)";avsnp150=rs79220967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5734353 rs74224299 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e110150\x3bdist\x3e188379;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5795\x3bName\x3e"8528:L1MEc(LINE)";avsnp150=rs74224299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5734374 rs77179475 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e110171\x3bdist\x3e188358;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5795\x3bName\x3e"8528:L1MEc(LINE)";avsnp150=rs77179475;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 5751591 rs770712 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e127388\x3bdist\x3e171141;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs770712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.41;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.2651;1000g2015aug_all=0.358227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 5790340 rs2842259 A G 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e166137\x3bdist\x3e132392;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.5703;1000g2015aug_amr=0.415;1000g2015aug_all=0.455471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 5808093 rs12059728 A C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e183890\x3bdist\x3e114639;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e613\x3bName\x3e"8689:MIRb(SINE)";avsnp150=rs12059728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.175;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.1326;1000g2015aug_all=0.303714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 5808096 rs12061030 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e183893\x3bdist\x3e114636;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e613\x3bName\x3e"8689:MIRb(SINE)";avsnp150=rs12061030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.202;1000g2015aug_amr=0.0793;1000g2015aug_all=0.122804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 5873699 rs193000997 G C 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.701;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.786;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e249496\x3bdist\x3e49033;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e109\x3bName\x3e"8812:(GGA)n(Simple_repeat)";avsnp150=rs193000997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:268,0,249 1 5873771 rs55759711 A G 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.153;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=0.191;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039612,NR_039838;GeneDetail=dist\x3e249568\x3bdist\x3e48961;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e109\x3bName\x3e"8812:(GGA)n(Simple_repeat)";avsnp150=rs55759711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.7406;1000g2015aug_all=0.773163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:68:233,0,68 1 5937091 rs1622955 T C 1644.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.461;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1622955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.8473;1000g2015aug_all=0.904153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1673,135,0 1 5937168 rs3747992 G A 3117.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=exonic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R;Gencode=Name\x3eENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747992;cosmic70=.;CLNALLELEID=101576;CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLNDISDB=MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.4597;1000g2015aug_all=0.453474;esp6500siv2_all=0.3524;ExAC_ALL=0.4751;ExAC_AFR=0.3408;ExAC_AMR=0.5633;ExAC_EAS=0.7722;ExAC_FIN=0.4541;ExAC_NFE=0.4302;ExAC_OTH=0.4315;ExAC_SAS=0.4962;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:3146,270,0 1 5937391 rs3747989 C T 3450.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747989;cosmic70=.;CLNALLELEID=250004;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.969;1000g2015aug_amr=0.7522;1000g2015aug_all=0.832668;esp6500siv2_all=0.8516;ExAC_ALL=0.8108;ExAC_AFR=0.9390;ExAC_AMR=0.7487;ExAC_EAS=0.8503;ExAC_FIN=0.8007;ExAC_NFE=0.8093;ExAC_OTH=0.7839;ExAC_SAS=0.7556;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3479,317,0 1 5937413 rs3747988 A C 2804.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.872;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.4899;1000g2015aug_all=0.471645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2833,255,0 1 5939544 rs11121915 T G 636.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.969;1000g2015aug_amr=0.7522;1000g2015aug_all=0.834265;esp6500siv2_all=0.8427;ExAC_ALL=0.7983;ExAC_AFR=0.9322;ExAC_AMR=0.7162;ExAC_EAS=0.8538;ExAC_FIN=0.7896;ExAC_NFE=0.8035;ExAC_OTH=0.7830;ExAC_SAS=0.7436;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:665,60,0 1 5948677 rs2282281 G A 978.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.969;1000g2015aug_amr=0.7522;1000g2015aug_all=0.833866;esp6500siv2_all=0.8427;ExAC_ALL=0.7974;ExAC_AFR=0.9331;ExAC_AMR=0.7154;ExAC_EAS=0.8530;ExAC_FIN=0.7899;ExAC_NFE=0.8036;ExAC_OTH=0.7827;ExAC_SAS=0.7382;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1007,87,0 1 5964991 rs3737234 T C 1804.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.68;SOR=3.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7392;1000g2015aug_all=0.832867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1833,144,0 1 5965179 rs11122125 A G 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.5014;1000g2015aug_all=0.480631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 5966119 rs3747987 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e940\x3bName\x3e"8934:MER53(DNA)";avsnp150=rs3747987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.727;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7536;1000g2015aug_all=0.833666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 6007446 rs551207 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs551207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.7795;1000g2015aug_all=0.808307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 6007816 rs12032639 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12032639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.497;1000g2015aug_amr=0.4928;1000g2015aug_all=0.526158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6027167 rs875574 C A 1012.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=2.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs875574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.637;1000g2015aug_eur=0.66;1000g2015aug_afr=0.736;1000g2015aug_amr=0.6369;1000g2015aug_all=0.689696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1041,87,0 1 6027252 rs875573 A G 1812.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs875573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.637;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.6311;1000g2015aug_all=0.660144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1841,159,0 1 6034200 rs4068399 G A 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4068399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.6596;1000g2015aug_amr=0.634;1000g2015aug_all=0.669928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 6037603 rs11120934 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378156.8,ENST00000622020.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e250\x3bName\x3e"9039:L2b(LINE)";avsnp150=rs11120934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.66;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.634;1000g2015aug_all=0.690296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6038583 rs4908639 G C 1452.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.969;1000g2015aug_amr=0.7565;1000g2015aug_all=0.838858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1481,129,0 1 6040082 rs496739 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHP4;Func=intronic;Gene=NM_001291593,NM_001291594,NM_015102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622020.4,ENST00000378156.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1406\x3bName\x3e"9047:MER74A(LTR)";avsnp150=rs496739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.866;1000g2015aug_all=0.923123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6067640 rs806114 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378111.5,ENST00000378097.5,ENST00000378092.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs806114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.7689;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.7522;1000g2015aug_all=0.763578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 6099339 rs1295088 A G 60.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352527.5,ENST00000378111.5,ENST00000378097.5,ENST00000378092.5,ENST00000341524.5,ENST00000164247.5,ENST00000602612.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1295088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.866;1000g2015aug_all=0.890575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:88,9,0 1 6100458 rs12566866 G A 645.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602612.5,ENST00000164247.5,ENST00000378092.5,ENST00000341524.5,ENST00000352527.5,ENST00000378111.5,ENST00000378097.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12566866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.3775;1000g2015aug_all=0.435104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:674,51,0 1 6144914 rs3789531 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378111.5,ENST00000378097.5,ENST00000458166.6,ENST00000352527.5,ENST00000378083.7,ENST00000341524.5,ENST00000378092.5,ENST00000164247.5,ENST00000602612.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5058;1000g2015aug_all=0.535543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6145365 rs2294936 A G 2443.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352527.5,ENST00000458166.6,ENST00000378111.5,ENST00000378097.5,ENST00000602612.5,ENST00000164247.5,ENST00000341524.5,ENST00000378092.5,ENST00000378083.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.6571;1000g2015aug_all=0.686502;esp6500siv2_all=0.6945;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2472,222,0 1 6145465 rs7512313 T G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378097.5,ENST00000378111.5,ENST00000458166.6,ENST00000352527.5,ENST00000164247.5,ENST00000602612.5,ENST00000378083.7,ENST00000378092.5,ENST00000341524.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.7046;1000g2015aug_all=0.847444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 6147715 . G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378097.5,ENST00000378111.5,ENST00000352527.5,ENST00000458166.6,ENST00000341524.5,ENST00000378092.5,ENST00000378083.7,ENST00000602612.5,ENST00000164247.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 6149286 rs7553754 G C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378083.7,ENST00000378092.5,ENST00000341524.5,ENST00000164247.5,ENST00000602612.5,ENST00000458166.6,ENST00000352527.5,ENST00000378097.5,ENST00000378111.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.6931;1000g2015aug_all=0.833466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 6150637 rs12081978 C T 964.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378083.7,ENST00000341524.5,ENST00000378092.5,ENST00000164247.5,ENST00000602612.5,ENST00000458166.6,ENST00000352527.5,ENST00000378097.5,ENST00000378111.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12081978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.388;1000g2015aug_amr=0.4683;1000g2015aug_all=0.40655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:993,81,0 1 6155332 rs1555144 T C 1973.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.727;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602612.5,ENST00000164247.5,ENST00000378092.5,ENST00000341524.5,ENST00000378083.7,ENST00000352527.5,ENST00000458166.6,ENST00000378111.5,ENST00000378097.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.5235;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.7176;1000g2015aug_all=0.727236;esp6500siv2_all=0.7800;ExAC_ALL=0.6974;ExAC_AFR=0.8756;ExAC_AMR=0.7610;ExAC_EAS=0.7453;ExAC_FIN=0.6836;ExAC_NFE=0.7164;ExAC_OTH=0.6771;ExAC_SAS=0.5652;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2002,183,0 1 6156306 rs116536189 G A 626.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.197;DP=32;ExcessHet=3.0103;FS=2.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=-1.198;SOR=1.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000378111.5,ENST00000378097.5,ENST00000458166.6,ENST00000352527.5,ENST00000378083.7,ENST00000378092.5,ENST00000341524.5,ENST00000164247.5,ENST00000602612.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116536189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.013;1000g2015aug_all=0.00858626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,18:32:99:655,0,476 1 6157282 rs749434 C T 1020.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.03;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352527.5,ENST00000458166.6,ENST00000378097.5,ENST00000378111.5,ENST00000602612.5,ENST00000164247.5,ENST00000341524.5,ENST00000378092.5,ENST00000378083.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs749434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.3746;1000g2015aug_all=0.262979;esp6500siv2_all=0.3525;ExAC_ALL=0.3332;ExAC_AFR=0.3869;ExAC_AMR=0.3567;ExAC_EAS=0.0036;ExAC_FIN=0.2059;ExAC_NFE=0.3617;ExAC_OTH=0.3646;ExAC_SAS=0.2152;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1049,90,0 1 6157434 rs2311802 C T 4180.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.353;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=intronic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341524.5,ENST00000378092.5,ENST00000378083.7,ENST00000602612.5,ENST00000164247.5,ENST00000378111.5,ENST00000378097.5,ENST00000352527.5,ENST00000458166.6;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2311802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.5418;1000g2015aug_all=0.454073;esp6500siv2_all=0.5705;ExAC_ALL=0.4512;ExAC_AFR=0.6792;ExAC_AMR=0.5415;ExAC_EAS=0.2405;ExAC_FIN=0.46;ExAC_NFE=0.4640;ExAC_OTH=0.4323;ExAC_SAS=0.3662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.500;phyloP20way_mammalian=-0.692;SiPhy_29way_logOdds=1.653;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4209,389,0 1 6158562 rs2229002 A G 1395.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNAB2;Func=exonic;Gene=NM_001199860,NM_001199861,NM_001199862,NM_001199863,NM_003636,NM_172130;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNAB2:NM_001199863:exon14:c.A831G:p.S277S,KCNAB2:NM_172130:exon15:c.A990G:p.S330S,KCNAB2:NM_001199860:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199861:exon16:c.A1032G:p.S344S,KCNAB2:NM_001199862:exon16:c.A1176G:p.S392S,KCNAB2:NM_003636:exon16:c.A1032G:p.S344S;Gencode=Name\x3eENST00000378097.5,ENST00000378111.5,ENST00000352527.5,ENST00000458166.6,ENST00000378092.5,ENST00000341524.5,ENST00000378083.7,ENST00000602612.5,ENST00000164247.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.6095;1000g2015aug_all=0.54393;esp6500siv2_all=0.6146;ExAC_ALL=0.5750;ExAC_AFR=0.6385;ExAC_AMR=0.6817;ExAC_EAS=0.4055;ExAC_FIN=0.5546;ExAC_NFE=0.6044;ExAC_OTH=0.5343;ExAC_SAS=0.4419;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1424,135,0 1 6162054 rs6696489 T C 2684.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHD5;Func=UTR3;Gene=NM_015557;GeneDetail=NM_015557:c.*3480A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262450.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.6785;1000g2015aug_amr=0.6801;1000g2015aug_all=0.704473;esp6500siv2_all=.;ExAC_ALL=0.6180;ExAC_AFR=0.7153;ExAC_AMR=0.625;ExAC_EAS=0.8367;ExAC_FIN=0.75;ExAC_NFE=0.6347;ExAC_OTH=0.6311;ExAC_SAS=0.5934;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2713,255,0 1 6189058 rs140567383 C T 1073.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.876;DP=84;ExcessHet=3.0103;FS=0.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.843;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHD5;Func=exonic;Gene=NM_015557;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CHD5:NM_015557:exon23:c.G3459A:p.S1153S;Gencode=Name\x3eENST00000262450.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs140567383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=0.0006;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0.0022;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,45:84:99:1102,0,978 1 6269340 rs4908865 A G 859.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.904;DP=60;ExcessHet=3.0103;FS=3.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.111;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF207;Func=exonic;Gene=NM_207396;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RNF207:NM_207396:exon6:c.A564G:p.A188A;Gencode=Name\x3eENST00000377939.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.0793;1000g2015aug_all=0.14397;esp6500siv2_all=0.1017;ExAC_ALL=0.1185;ExAC_AFR=0.3096;ExAC_AMR=0.0816;ExAC_EAS=0.0844;ExAC_FIN=0;ExAC_NFE=0.0775;ExAC_OTH=0.1127;ExAC_SAS=0.1209;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,30:60:99:888,0,834 1 6272137 rs709208 A G 440.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.392;DP=58;ExcessHet=3.0103;FS=2.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0.737;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF207;Func=intronic;Gene=NM_207396;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377939.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.4637;1000g2015aug_amr=0.232;1000g2015aug_all=0.327676;esp6500siv2_all=.;ExAC_ALL=0.3819;ExAC_AFR=0.5976;ExAC_AMR=0.2578;ExAC_EAS=0.2690;ExAC_FIN=0.3630;ExAC_NFE=0.3843;ExAC_OTH=0.3571;ExAC_SAS=0.4050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,21:57:99:469,0,1051 1 6273206 rs55823245 C T 2226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.122;DP=159;ExcessHet=3.0103;FS=3.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.362;SOR=0.467;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF207;Func=exonic;Gene=NM_207396;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF207:NM_207396:exon16:c.C1615T:p.R539C;Gencode=Name\x3eENST00000377939.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55823245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00938498;esp6500siv2_all=0.0150;ExAC_ALL=0.0154;ExAC_AFR=0.0028;ExAC_AMR=0.0140;ExAC_EAS=0;ExAC_FIN=0.0083;ExAC_NFE=0.0213;ExAC_OTH=0.0157;ExAC_SAS=0.0106;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.38;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.34;MutationAssessor_pred=M;FATHMM_score=2.11;FATHMM_pred=T;phyloP100way_vertebrate=2.888;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=12.982;gerp++gt2=3.98;CADD=7.105;CADD_Phred=34;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,87:159:99:2255,0,1895 1 6278414 rs709209 A G 1164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.963;DP=136;ExcessHet=3.0103;FS=1.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.622;SOR=0.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF207;Func=exonic;Gene=NM_207396;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF207:NM_207396:exon17:c.A1718G:p.N573S;Gencode=Name\x3eENST00000377939.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.2939;1000g2015aug_all=0.437101;esp6500siv2_all=0.4512;ExAC_ALL=0.3617;ExAC_AFR=0.7059;ExAC_AMR=0.2161;ExAC_EAS=0.2576;ExAC_FIN=0.3055;ExAC_NFE=0.3406;ExAC_OTH=0.3289;ExAC_SAS=0.4219;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.168;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.245;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_pred=T;phyloP100way_vertebrate=-0.309;phyloP20way_mammalian=-0.025;SiPhy_29way_logOdds=1.127;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,52:135:99:1193,0,2250 1 6285458 rs3747974 T C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.497;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eICMT;Func=intronic;Gene=NM_012405;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343813.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3759;1000g2015aug_amr=0.1009;1000g2015aug_all=0.174521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 6291810 rs4908541 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eICMT;Func=intronic;Gene=NM_012405;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343813.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.0409;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0407348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6305053 rs12408527 C T 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHES3;Func=intronic;Gene=NM_001024598;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377898.3;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e59\x3bName\x3e"9499:(CCCTC)n(Simple_repeat)";avsnp150=rs12408527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.666;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.7277;1000g2015aug_all=0.547724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 6305292 rs61760836 C A 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.61;DP=19;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.899;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHES3;Func=exonic;Gene=NM_001024598;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HES3:NM_001024598:exon4:c.C286A:p.P96T;Gencode=Name\x3eENST00000377898.3;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61760836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.755;1000g2015aug_all=0.557907;esp6500siv2_all=0.6612;ExAC_ALL=0.6522;ExAC_AFR=0.4129;ExAC_AMR=0.7955;ExAC_EAS=0.5947;ExAC_FIN=1;ExAC_NFE=0.7045;ExAC_OTH=0.6875;ExAC_SAS=0.6362;SIFT_score=0.792;SIFT_pred=T;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=1.57;FATHMM_pred=T;phyloP100way_vertebrate=1.810;phyloP20way_mammalian=-1.230;SiPhy_29way_logOdds=6.431;gerp++gt2=2.4;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:251,0,224 1 6305303 rs61760837 C A 219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.55;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.469;SOR=1.815;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHES3;Func=exonic;Gene=NM_001024598;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HES3:NM_001024598:exon4:c.C297A:p.A99A;Gencode=Name\x3eENST00000377898.3;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61760837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.7536;1000g2015aug_all=0.557508;esp6500siv2_all=0.6833;ExAC_ALL=0.6552;ExAC_AFR=0.4167;ExAC_AMR=0.8209;ExAC_EAS=0.5732;ExAC_FIN=0.9;ExAC_NFE=0.7092;ExAC_OTH=0.6827;ExAC_SAS=0.6399;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:248,0,223 1 6309319 rs1883608 C G 655.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=UTR3;Gene=NM_207370;GeneDetail=NM_207370:c.*79G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.681;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.7594;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:684,54,0 1 6313938 rs12735670 C T 2037.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.01;SOR=2.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=exonic;Gene=NM_207370;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GPR153:NM_207370:exon3:c.G626A:p.R209H;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12735670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7939;1000g2015aug_all=0.699081;esp6500siv2_all=.;ExAC_ALL=0.7075;ExAC_AFR=0.7225;ExAC_AMR=0.8217;ExAC_EAS=0.5941;ExAC_FIN=0.7000;ExAC_NFE=0.7036;ExAC_OTH=0.7235;ExAC_SAS=0.6936;SIFT_score=0.394;SIFT_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.411;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=-0.046;phyloP20way_mammalian=-0.902;SiPhy_29way_logOdds=7.468;gerp++gt2=2.03;CADD=1.052;CADD_Phred=10.95;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2066,168,0 1 6314349 rs6696630 A G 1015.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.59;SOR=5.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=intronic;Gene=NM_207370;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.8141;1000g2015aug_all=0.758786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1044,75,0 1 6314479 rs12740426 C T 973.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=intronic;Gene=NM_207370;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12740426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.745;1000g2015aug_all=0.565296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:1002,72,0 1 6314822 rs11590458 T C 3344.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=exonic;Gene=NM_207370;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPR153:NM_207370:exon2:c.A144G:p.T48T;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6181;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.8012;1000g2015aug_all=0.73143;esp6500siv2_all=0.7318;ExAC_ALL=0.7092;ExAC_AFR=0.7926;ExAC_AMR=0.8205;ExAC_EAS=0.5927;ExAC_FIN=0.6900;ExAC_NFE=0.6961;ExAC_OTH=0.7195;ExAC_SAS=0.6999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3373,282,0 1 6315125 rs74049515 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=intronic;Gene=NM_207370;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74049515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0229;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6317831 rs11576445 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR153;Func=intronic;Gene=NM_207370;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377893.2;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.7565;1000g2015aug_all=0.591054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6324968 rs12061848 A C 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT7;Func=intronic;Gene=NM_007274,NM_181864,NM_181865,NM_181866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377842.7,ENST00000608083.5,ENST00000377855.6,ENST00000361521.8,ENST00000545482.5,ENST00000377845.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12061848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:99:162,0,129 1 6324969 rs12059771 C T 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT7;Func=intronic;Gene=NM_007274,NM_181864,NM_181865,NM_181866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361521.8,ENST00000377855.6,ENST00000377842.7,ENST00000608083.5,ENST00000377845.7,ENST00000545482.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:99:162,0,129 1 6520312 rs3138158 C T 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=-0.66;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPN;Func=UTR3;Gene=NM_031475;GeneDetail=NM_031475:c.*106C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416731.5,ENST00000461727.5,ENST00000377828.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3138158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0291534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:50:253,0,50 1 6525920 rs11574660 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF25;Func=intronic;Gene=NM_001039664,NM_003790,NM_148965,NM_148966,NM_148967,NM_148970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348333.7,ENST00000351959.9,ENST00000377782.7,ENST00000356876.7,ENST00000351748.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11574660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.093;1000g2015aug_eur=0.0795;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.1671;1000g2015aug_all=0.0589058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6534755 . A T 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHG5;Func=intronic;Gene=NM_001042663,NM_001042664,NM_001042665,NM_001265592,NM_001265593,NM_001265594,NM_020631,NM_198681;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377725.5,ENST00000340850.9,ENST00000377740.4,ENST00000377732.5,ENST00000400915.7,ENST00000535355.5,ENST00000537245.5,ENST00000377748.5,ENST00000377728.7,ENST00000400913.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:37:67,0,37 1 6557154 rs575328880 G A 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.972;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.681;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHG5;Func=UTR5;Gene=NM_001265592;GeneDetail=NM_001265592:c.-63C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377740.4,ENST00000400915.7,ENST00000537245.5,ENST00000377748.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs575328880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0109;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00938498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:255,0,183 1 6579110 rs4515814 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHG5;Func=intronic;Gene=NM_198681;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377748.5,ENST00000377740.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2418\x3bName\x3e"10046:AluY(SINE)";avsnp150=rs4515814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9138;1000g2015aug_amr=0.9914;1000g2015aug_all=0.969848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 6579607 rs1556035 C T 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.054;DP=48;ExcessHet=3.0103;FS=2.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.756;SOR=1.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHG5;Func=UTR5;Gene=NM_198681;GeneDetail=NM_198681:c.-36G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377740.4,ENST00000377748.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556035;cosmic70=.;CLNALLELEID=365374;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.866;1000g2015aug_all=0.746006;esp6500siv2_all=0.7744;ExAC_ALL=0.8523;ExAC_AFR=0.5248;ExAC_AMR=0.9344;ExAC_EAS=0.8012;ExAC_FIN=0.9169;ExAC_NFE=0.8829;ExAC_OTH=0.8644;ExAC_SAS=0.8650;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,22:48:99:626,0,698 1 6579653 rs41278014 G C 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.633;DP=22;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=1.402;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHG5;Func=UTR5;Gene=NM_198681;GeneDetail=NM_198681:c.-82C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377748.5,ENST00000377740.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41278014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.1153;1000g2015aug_all=0.171725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:416,0,256 1 6586070 rs7548042 C T 1225.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.9914;1000g2015aug_all=0.979433;esp6500siv2_all=0.9755;ExAC_ALL=0.9935;ExAC_AFR=0.9270;ExAC_AMR=0.9977;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1254,117,0 1 6586553 rs2274553 C T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.8487;1000g2015aug_all=0.717652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 6591937 rs932112 T A 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.767;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e682\x3bName\x3e"10072:MIR(SINE)";avsnp150=rs932112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:571,0,578 1 6592377 rs58415361 A G 714.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.584;DP=55;ExcessHet=3.0103;FS=2.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.228;SOR=1.262;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58415361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.182;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.1153;1000g2015aug_all=0.180511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,25:55:99:743,0,815 1 6593532 rs11122083 G A 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.417;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.15;SOR=0.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.1066;1000g2015aug_all=0.146166;esp6500siv2_all=0.1220;ExAC_ALL=0.1212;ExAC_AFR=0.1386;ExAC_AMR=0.0503;ExAC_EAS=0.1679;ExAC_FIN=0.0846;ExAC_NFE=0.1190;ExAC_OTH=0.1170;ExAC_SAS=0.1789;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,29:49:99:744,0,548 1 6601773 rs3761927 T C 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=1.465;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.8617;1000g2015aug_all=0.782149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,227 1 6609559 rs11122091 C A 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=0.433;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.8429;1000g2015aug_all=0.717652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:250,0,273 1 6609851 rs10864622 A G 627.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.938;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:656,54,0 1 6609896 rs11579888 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11579888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.8516;1000g2015aug_all=0.767173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 6609958 rs11581831 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e326\x3bName\x3e"10129:MIR(SINE)";avsnp150=rs11581831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.8516;1000g2015aug_all=0.767173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 6610366 rs2063805 T C 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2445\x3bName\x3e"10130:AluSc8(SINE)";avsnp150=rs2063805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.8516;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 6610382 rs2063806 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.192;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.668;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2445\x3bName\x3e"10130:AluSc8(SINE)";avsnp150=rs2063806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.8516;1000g2015aug_all=0.767372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:252,0,286 1 6612327 rs10864624 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=intronic;Gene=NM_024654;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1997\x3bName\x3e"10136:L1PA11(LINE)";avsnp150=rs10864624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.913;1000g2015aug_amr=0.9914;1000g2015aug_all=0.969649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 6614391 rs6693391 A C 626.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=exonic;Gene=NM_024654;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NOL9:NM_024654:exon1:c.T172G:p.S58A;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.9841;1000g2015aug_all=0.95627;esp6500siv2_all=0.9613;ExAC_ALL=0.9785;ExAC_AFR=0.8275;ExAC_AMR=0.9898;ExAC_EAS=0.9467;ExAC_FIN=1;ExAC_NFE=0.9955;ExAC_OTH=1;ExAC_SAS=0.9948;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.100;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=2.4;FATHMM_pred=T;phyloP100way_vertebrate=0.597;phyloP20way_mammalian=-0.521;SiPhy_29way_logOdds=8.900;gerp++gt2=3.05;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:655,45,0 1 6614415 rs6693400 A G 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=exonic;Gene=NM_024654;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NOL9:NM_024654:exon1:c.T148C:p.W50R;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.9914;1000g2015aug_all=0.979832;esp6500siv2_all=0.9730;ExAC_ALL=0.9912;ExAC_AFR=0.9004;ExAC_AMR=0.9930;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.031;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.975;MutationAssessor_pred=N;FATHMM_score=2.5;FATHMM_pred=T;phyloP100way_vertebrate=0.947;phyloP20way_mammalian=-0.360;SiPhy_29way_logOdds=7.943;gerp++gt2=4.0;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 6614535 rs4908923 G A 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.546;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-2.224;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=exonic;Gene=NM_024654;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NOL9:NM_024654:exon1:c.C28T:p.R10W;Gencode=Name\x3eENST00000377705.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.818;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.8473;1000g2015aug_all=0.722244;esp6500siv2_all=0.7868;ExAC_ALL=0.8446;ExAC_AFR=0.5262;ExAC_AMR=0.9255;ExAC_EAS=0.7922;ExAC_FIN=0.9116;ExAC_NFE=0.8716;ExAC_OTH=0.8178;ExAC_SAS=0.8249;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.925;Polyphen2_HVAR_pred=D;LRT_score=0.092;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=1.96;FATHMM_pred=T;phyloP100way_vertebrate=0.060;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=6.737;gerp++gt2=2.15;CADD=5.337;CADD_Phred=25.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:361,0,383 1 6614653 rs4908924 C G 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.987;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-1.427;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOL9;Func=UTR5;Gene=NM_024654;GeneDetail=NM_024654:c.-91G>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.818;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.8516;1000g2015aug_all=0.761781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:146,0,180 1 6614747 rs60256927 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_024654,NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60256927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.182;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.1398;1000g2015aug_all=0.207668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 6615107 rs4908925 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_024654,NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.9899;1000g2015aug_all=0.957867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 6615690 rs925745 A G 1148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.504;DP=44;ExcessHet=3.0103;FS=3.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.11;ReadPosRankSum=0.857;SOR=0.229;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351136.7,ENST00000333172.10;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs925745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.82;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.4289;1000g2015aug_amr=0.8545;1000g2015aug_all=0.724641;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,30:44:99:1177,0,808 1 6615695 rs925744 C T 1135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.408;DP=39;ExcessHet=3.0103;FS=3.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.12;ReadPosRankSum=0.047;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351136.7,ENST00000333172.10;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs925744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.819;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.8487;1000g2015aug_all=0.738419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,28:39:99:1164,0,729 1 6631319 rs11122096 G A 738.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333172.10,ENST00000328191.5,ENST00000351136.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.9611;1000g2015aug_all=0.888578;esp6500siv2_all=0.9004;ExAC_ALL=0.9543;ExAC_AFR=0.7210;ExAC_AMR=0.9591;ExAC_EAS=0.9423;ExAC_FIN=0.9626;ExAC_NFE=0.9860;ExAC_OTH=0.9396;ExAC_SAS=0.9858;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:767,60,0 1 6631431 rs11587438 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333172.10,ENST00000328191.5,ENST00000351136.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11587438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eWhite_blood_cell_types;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.8415;1000g2015aug_all=0.741414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 6635231 rs10864628 A G 3389.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.95;SOR=1.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=exonic;Gene=NM_138697;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TAS1R1:NM_138697:exon3:c.A1039G:p.K347E;Gencode=Name\x3eENST00000333172.10,ENST00000351136.7,ENST00000328191.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.9841;1000g2015aug_all=0.923323;esp6500siv2_all=0.9197;ExAC_ALL=0.9769;ExAC_AFR=0.7550;ExAC_AMR=0.9886;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=0.9863;ExAC_SAS=0.9989;SIFT_score=0.986;SIFT_pred=T;Polyphen2_HDIV_score=0.056;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.028;Polyphen2_HVAR_pred=B;LRT_score=0.834;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=-2.1;FATHMM_pred=D;phyloP100way_vertebrate=-0.130;phyloP20way_mammalian=-0.281;SiPhy_29way_logOdds=6.901;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:3418,291,0 1 6637171 rs12040340 G A 1645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.744;DP=99;ExcessHet=3.0103;FS=4.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.628;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333172.10,ENST00000351136.7,ENST00000328191.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12040340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.18;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.098;1000g2015aug_all=0.123203;esp6500siv2_all=0.1046;ExAC_ALL=0.1168;ExAC_AFR=0.0881;ExAC_AMR=0.0462;ExAC_EAS=0.1410;ExAC_FIN=0.0899;ExAC_NFE=0.1182;ExAC_OTH=0.1042;ExAC_SAS=0.1765;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,59:99:99:1674,0,1167 1 6637313 rs4908931 A G 553.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R1;Func=intronic;Gene=NM_138697,NM_177540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333172.10,ENST00000351136.7,ENST00000328191.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2180\x3bName\x3e"10203:AluSz(SINE)";avsnp150=rs4908931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9928;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:582,42,0 1 6645867 rs6682920 G A 619.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.287;DP=47;ExcessHet=3.0103;FS=6.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.538;SOR=2.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB48;Func=intronic;Gene=NM_001278647,NM_001278648,NM_005341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377674.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.3314;1000g2015aug_all=0.34984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,20:47:99:648,0,846 1 6658770 rs11122102 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL21;Func=intronic;Gene=NM_001324309,NM_014851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467612.5,ENST00000463043.1,ENST00000377658.8,ENST00000377663.3,ENST00000610898.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2474\x3bName\x3e"10230:AluY(SINE)";avsnp150=rs11122102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.6649;1000g2015aug_amr=0.6124;1000g2015aug_all=0.673123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6659505 rs2232460 G A 488.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.08;DP=63;ExcessHet=3.0103;FS=1.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.342;SOR=0.995;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL21;Func=exonic;Gene=NM_001324309,NM_014851;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S;Gencode=Name\x3eENST00000467612.5,ENST00000463043.1,ENST00000377658.8,ENST00000610898.1,ENST00000377663.3;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.267;1000g2015aug_amr=0.3127;1000g2015aug_all=0.347444;esp6500siv2_all=0.3148;ExAC_ALL=0.3456;ExAC_AFR=0.2716;ExAC_AMR=0.2667;ExAC_EAS=0.4095;ExAC_FIN=0.2836;ExAC_NFE=0.3385;ExAC_OTH=0.3747;ExAC_SAS=0.4686;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,21:63:99:517,0,1163 1 6661732 rs12028517 C A 310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.87;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.556;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL21;Func=intronic;Gene=NM_001324309,NM_014851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377658.8,ENST00000377663.3,ENST00000610898.1,ENST00000467612.5,ENST00000463043.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12028517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.3141;1000g2015aug_all=0.313898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,10:26:99:339,0,578 1 6662913 rs6674407 G A 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.577;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL21;Func=UTR5;Gene=NM_001324309,NM_014851;GeneDetail=NM_001324309:c.-36C>T\x3bNM_014851:c.-36C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377658.8,ENST00000377663.3,ENST00000610898.1,ENST00000467612.5,ENST00000463043.1;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6674407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.304;1000g2015aug_all=0.313099;esp6500siv2_all=.;ExAC_ALL=0.5448;ExAC_AFR=0.5;ExAC_AMR=0.625;ExAC_EAS=0.5;ExAC_FIN=.;ExAC_NFE=0.4677;ExAC_OTH=0.6667;ExAC_SAS=0.5530;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,258 1 6677064 rs10779795 A G 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.956;SOR=0.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=intronic;Gene=NM_153812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.327;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.3343;1000g2015aug_all=0.365815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:300,0,322 1 6679848 rs2072948 C T 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.488;DP=23;ExcessHet=3.0103;FS=7.06;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-0.806;SOR=0.349;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=intronic;Gene=NM_153812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.09;1000g2015aug_amr=0.2435;1000g2015aug_all=0.217652;esp6500siv2_all=0.2658;ExAC_ALL=0.2877;ExAC_AFR=0.1181;ExAC_AMR=0.1378;ExAC_EAS=0.1570;ExAC_FIN=0.3083;ExAC_NFE=0.3491;ExAC_OTH=0.2985;ExAC_SAS=0.3192;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:405,0,280 1 6681262 rs11122106 A G 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=2.253;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=intronic;Gene=NM_153812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1983\x3bName\x3e"10275:AluJo(SINE)";avsnp150=rs11122106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.33;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.3343;1000g2015aug_all=0.366414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:147,0,472 1 6681275 rs12034227 A C 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.425;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.708;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=intronic;Gene=NM_153812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1983\x3bName\x3e"10275:AluJo(SINE)";avsnp150=rs12034227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.329;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.3343;1000g2015aug_all=0.364816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:330,0,497 1 6681375 rs6695474 C T 1111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.212;DP=79;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.602;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=intronic;Gene=NM_153812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.18;1000g2015aug_amr=0.2493;1000g2015aug_all=0.242013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,46:79:99:1140,0,817 1 6681744 rs3747994 C T 2529.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.8;SOR=3.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHF13;Func=UTR3;Gene=NM_153812;GeneDetail=NM_153812:c.*47C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377648.4;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.736;1000g2015aug_amr=0.6167;1000g2015aug_all=0.694688;esp6500siv2_all=0.7130;ExAC_ALL=0.6858;ExAC_AFR=0.7336;ExAC_AMR=0.4597;ExAC_EAS=0.6144;ExAC_FIN=0.6226;ExAC_NFE=0.7128;ExAC_OTH=0.6965;ExAC_SAS=0.7643;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2558,207,0 1 6685442 rs12746591 A G 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHAP3;Func=intronic;Gene=NM_001195752,NM_001195753,NM_138350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000054650.8,ENST00000377627.7,ENST00000307896.10;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12746591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.7986;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.711;1000g2015aug_amr=0.6138;1000g2015aug_all=0.685304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 6688358 rs11122109 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHAP3;Func=intronic;Gene=NM_001195752,NM_001195753,NM_138350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307896.10,ENST00000377627.7,ENST00000054650.8;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.2622;1000g2015aug_all=0.290535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 6690140 rs742394 A G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.1;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHAP3;Func=intronic;Gene=NM_001195752,NM_001195753,NM_138350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000054650.8,ENST00000377627.7,ENST00000307896.10;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs742394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.6138;1000g2015aug_all=0.683906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 6693097 rs3174820 A G 854.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.165;DP=75;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=59.99;MQRankSum=-1.071;QD=11.4;ReadPosRankSum=0.612;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHAP3;Func=exonic;Gene=NM_001195752,NM_001195753;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R;Gencode=Name\x3eENST00000054650.8,ENST00000377627.7,ENST00000307896.10;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3174820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3889;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.332;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.3429;1000g2015aug_all=0.370407;esp6500siv2_all=0.3330;ExAC_ALL=0.3911;ExAC_AFR=0.3605;ExAC_AMR=0.3266;ExAC_EAS=0.4572;ExAC_FIN=0.3063;ExAC_NFE=0.3782;ExAC_OTH=0.3925;ExAC_SAS=0.4864;SIFT_score=0.868;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-3.4;FATHMM_pred=D;phyloP100way_vertebrate=-2.196;phyloP20way_mammalian=-0.552;SiPhy_29way_logOdds=1.286;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,34:75:99:883,0,1088 1 6694207 rs12727844 A G 999.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.604;DP=76;ExcessHet=3.0103;FS=0.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.727;SOR=0.946;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHAP3;Func=UTR3;Gene=NM_138350;GeneDetail=NM_138350:c.*59A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377627.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12727844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.331;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.3429;1000g2015aug_all=0.36861;esp6500siv2_all=0.3449;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,36:76:99:1028,0,1127 1 6694574 rs6804 G A 969.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.861;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.478;SOR=0.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11,THAP3;Func=UTR3;Gene=NM_018198,NM_138350;GeneDetail=NM_018198:c.*1161C>T\x3bNM_138350:c.*426G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377577.9,ENST00000377627.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.3343;1000g2015aug_all=0.336861;esp6500siv2_all=0.3002;ExAC_ALL=0.4264;ExAC_AFR=0.2826;ExAC_AMR=0.3708;ExAC_EAS=0.4909;ExAC_FIN=0.3874;ExAC_NFE=0.4199;ExAC_OTH=0.4428;ExAC_SAS=0.5051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,38:90:99:998,0,1390 1 6694927 rs2294532 C T 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=1.856;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11,THAP3;Func=UTR3;Gene=NM_018198,NM_138350;GeneDetail=NM_018198:c.*808G>A\x3bNM_138350:c.*779C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377627.7,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.2709;1000g2015aug_all=0.300719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,138 1 6694980 rs1043683 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11,THAP3;Func=UTR3;Gene=NM_018198,NM_138350;GeneDetail=NM_018198:c.*755C>T\x3bNM_138350:c.*832G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377577.9,ENST00000377627.7;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5764;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.7012;1000g2015aug_amr=0.6138;1000g2015aug_all=0.680511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 6695802 rs6577583 A G 2114.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.196;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6577583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6182;1000g2015aug_all=0.702476;esp6500siv2_all=0.7039;ExAC_ALL=0.6737;ExAC_AFR=0.7224;ExAC_AMR=0.4502;ExAC_EAS=0.6360;ExAC_FIN=0.6135;ExAC_NFE=0.6982;ExAC_OTH=0.67;ExAC_SAS=0.7443;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2143,198,0 1 6704635 rs200458 A G 3408.77 PASS AC=2;AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=0.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=exonic;Gene=NM_018198;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAJC11:NM_018198:exon10:c.T1080C:p.G360G;Gencode=Name\x3eENST00000377577.9,ENST00000294401.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5704;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9625;1000g2015aug_all=0.833067;esp6500siv2_all=0.9000;ExAC_ALL=0.8836;ExAC_AFR=0.8781;ExAC_AMR=0.9655;ExAC_EAS=0.5977;ExAC_FIN=0.8741;ExAC_NFE=0.9093;ExAC_OTH=0.8612;ExAC_SAS=0.8803;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,107:107:99:3437,321,0 1 6705944 rs12137794 C T 3118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.881;DP=258;ExcessHet=3.0103;FS=4.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.456;SOR=0.975;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=exonic;Gene=NM_018198;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAJC11:NM_018198:exon8:c.G799A:p.V267M;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12137794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0795;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1282;1000g2015aug_all=0.0441294;esp6500siv2_all=0.0602;ExAC_ALL=0.0692;ExAC_AFR=0.0137;ExAC_AMR=0.1117;ExAC_EAS=0.0001;ExAC_FIN=0.1016;ExAC_NFE=0.0811;ExAC_OTH=0.0584;ExAC_SAS=0.0504;SIFT_score=0.557;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_pred=D;MutationAssessor_score=-1.21;MutationAssessor_pred=N;FATHMM_score=2.51;FATHMM_pred=T;phyloP100way_vertebrate=5.661;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=3.838;gerp++gt2=4.25;CADD=2.861;CADD_Phred=21.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:134,123:257:99:3147,0,3963 1 6711146 rs12145525 T C 1214.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.106;DP=107;ExcessHet=3.0103;FS=0.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.114;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377577.9,ENST00000294401.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3978;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.326;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.3242;1000g2015aug_all=0.33746;esp6500siv2_all=0.3003;ExAC_ALL=0.3433;ExAC_AFR=0.1931;ExAC_AMR=0.2680;ExAC_EAS=0.4216;ExAC_FIN=0.2771;ExAC_NFE=0.3433;ExAC_OTH=0.3480;ExAC_SAS=0.4608;SIFT_score=0.817;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.42;FATHMM_pred=T;phyloP100way_vertebrate=-0.327;phyloP20way_mammalian=-0.482;SiPhy_29way_logOdds=3.441;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,48:106:99:1243,0,1549 1 6711976 rs2294531 A C 100.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.3242;1000g2015aug_all=0.330471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:128,12,0 1 6712005 rs2294530 G T 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377577.9,ENST00000294401.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.2237;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.1326;1000g2015aug_all=0.0954473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 6712006 rs2294529 C T 54.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.2237;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.1326;1000g2015aug_all=0.0952476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:82,6,0 1 6713114 rs2235564 C T 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.467;DP=31;ExcessHet=3.0103;FS=4.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.022;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.3213;1000g2015aug_all=0.324681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:414,0,520 1 6761702 rs3761925 C T 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.872;DP=28;ExcessHet=3.0103;FS=7.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.253;SOR=0.055;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC11;Func=intronic;Gene=NM_018198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294401.11,ENST00000377577.9;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.3156;1000g2015aug_all=0.32488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:432,0,467 1 6774581 rs200425617 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018198,NR_104620;GeneDetail=dist\x3e12615\x3bdist\x3e10224;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6435\x3bName\x3e"10488:SVA_D(Retroposon)";avsnp150=rs200425617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 6808677 rs11122129 C G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104620,NM_001349612;GeneDetail=dist\x3e18605\x3bdist\x3e36707;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e570\x3bName\x3e"10593:THE1C(LTR)";avsnp150=rs11122129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.0418;1000g2015aug_all=0.127796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 6808782 rs12124999 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104620,NM_001349612;GeneDetail=dist\x3e18710\x3bdist\x3e36602;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e29\x3bName\x3e"10595:(CTC)n(Simple_repeat)";avsnp150=rs12124999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.0418;1000g2015aug_all=0.127796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 6866978 rs660880 G A 1194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.181;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.029;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001195563,NM_001242701,NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349627,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473578.5,ENST00000467404.6,ENST00000303635.11,ENST00000557126.5;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e529\x3bName\x3e"10758:Tigger14a(DNA)";avsnp150=rs660880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.149;1000g2015aug_amr=0.6354;1000g2015aug_all=0.3123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,40:71:99:1223,0,885 1 6932330 rs7543288 T C 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.253;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001242701,NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557126.5,ENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.3934;1000g2015aug_all=0.322883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:90:142,0,90 1 6947717 rs3810982 C T 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.286;DP=36;ExcessHet=3.0103;FS=1.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.222;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=exonic;Gene=NM_001242701;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAMTA1:NM_001242701:exon4:c.C238T:p.L80F;Gencode=Name\x3eENST00000557126.5,ENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3810982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.1167;1000g2015aug_all=0.208267;esp6500siv2_all=.;ExAC_ALL=0.1909;ExAC_AFR=0.1436;ExAC_AMR=0.1957;ExAC_EAS=0.2761;ExAC_FIN=.;ExAC_NFE=0.1812;ExAC_OTH=0.1610;ExAC_SAS=0.1944;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.237;phyloP20way_mammalian=0.065;SiPhy_29way_logOdds=5.798;gerp++gt2=3.21;CADD=2.631;CADD_Phred=20.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,17:36:99:397,0,583 1 6947973 rs3827726 C T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.856;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=UTR3;Gene=NM_001242701;GeneDetail=NM_001242701:c.*188C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3827726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.1182;1000g2015aug_all=0.214856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 6984272 rs7414812 C G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e513\x3bName\x3e"10963:L2a(LINE)";avsnp150=rs7414812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4568;1000g2015aug_all=0.441693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 7014324 . T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7014330 rs11120796 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.3401;1000g2015aug_all=0.256789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7022812 rs10864257 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.9942;1000g2015aug_all=0.986621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7043270 rs11120807 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.171;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.0893;1000g2015aug_all=0.117812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7079063 rs6693691 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4514;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.5202;1000g2015aug_all=0.613219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7119202 rs4908595 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.671;1000g2015aug_afr=0.6445;1000g2015aug_amr=0.5634;1000g2015aug_all=0.6252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7121794 rs7521119 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.5821;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7121898 rs11588586 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.1268;1000g2015aug_all=0.133586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 7141730 rs7516124 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e746\x3bName\x3e"11259:MER102b(DNA)";avsnp150=rs7516124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.8228;1000g2015aug_all=0.868011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7144678 rs55954714 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.31;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55954714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.1585;1000g2015aug_all=0.241214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7202190 rs970973 T C 961.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.715;DP=65;ExcessHet=3.0103;FS=0.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-1.994;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs970973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.73;1000g2015aug_amr=0.4942;1000g2015aug_all=0.563498;esp6500siv2_all=0.5914;ExAC_ALL=0.5438;ExAC_AFR=0.7010;ExAC_AMR=0.5180;ExAC_EAS=0.4172;ExAC_FIN=0.4797;ExAC_NFE=0.5477;ExAC_OTH=0.5169;ExAC_SAS=0.5583;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,36:65:99:990,0,707 1 7289777 rs4243824 G A 439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-0.127;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4243824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6438;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.8684;1000g2015aug_amr=0.6037;1000g2015aug_all=0.690895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,17:24:99:468,0,118 1 7289959 rs763197 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs763197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.6124;1000g2015aug_all=0.732628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 7316031 rs7512599 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.6455;1000g2015aug_all=0.639377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7326948 rs2017248 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e454\x3bName\x3e"11576:L2b(LINE)";avsnp150=rs2017248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.6268;1000g2015aug_all=0.506989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7412051 rs845237 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs845237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9424;1000g2015aug_all=0.917931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 7412088 rs4908624 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.913;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.205;1000g2015aug_amr=0.2277;1000g2015aug_all=0.207668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 7420889 rs845194 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs845194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.6095;1000g2015aug_all=0.521765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7420904 rs705672 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.6052;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7421862 rs845261 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs845261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.6052;1000g2015aug_all=0.520567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7426875 rs845270 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs845270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.6095;1000g2015aug_all=0.522364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7435645 rs705695 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.6037;1000g2015aug_all=0.513379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7450479 rs845226 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs845226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.5965;1000g2015aug_all=0.505391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7450557 rs845225 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e354\x3bName\x3e"11798:MIR(SINE)";avsnp150=rs845225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.938;1000g2015aug_all=0.927915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7480217 rs705692 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e989\x3bName\x3e"11844:L2a(LINE)";avsnp150=rs705692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9673;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.8948;1000g2015aug_all=0.839856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 7480290 rs6677945 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e989\x3bName\x3e"11844:L2a(LINE)";avsnp150=rs6677945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3936;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.2723;1000g2015aug_all=0.252796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 7480344 rs845254 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e989\x3bName\x3e"11844:L2a(LINE)";avsnp150=rs845254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.5706;1000g2015aug_all=0.575479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 7491728 rs61229957 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61229957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.4236;1000g2015aug_all=0.216254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7491729 rs61639978 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61639978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.4236;1000g2015aug_all=0.215256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7497161 rs1193223 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1193223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2937;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2392;1000g2015aug_all=0.276757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 7509672 rs7540677 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2317\x3bName\x3e"11879:AluSz(SINE)";avsnp150=rs7540677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.163;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.2651;1000g2015aug_all=0.293331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7509684 rs7550780 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2317\x3bName\x3e"11879:AluSz(SINE)";avsnp150=rs7550780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.2334;1000g2015aug_all=0.201677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 7527996 rs1201529 T C 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.143;DP=19;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.163;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1201529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2768;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.652;1000g2015aug_amr=0.4035;1000g2015aug_all=0.464058;esp6500siv2_all=0.6066;ExAC_ALL=0.4988;ExAC_AFR=0.6524;ExAC_AMR=0.2700;ExAC_EAS=0.2715;ExAC_FIN=0.4584;ExAC_NFE=0.5691;ExAC_OTH=0.5376;ExAC_SAS=0.4106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:251,0,292 1 7568982 rs1193180 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1193180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2839;1000g2015aug_all=0.225439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7594759 rs1725228 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1725228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.7604;1000g2015aug_afr=0.8472;1000g2015aug_amr=0.7695;1000g2015aug_all=0.78754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 7595233 rs2478266 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2478266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.7695;1000g2015aug_all=0.782947;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 7614672 rs4908468 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.5677;1000g2015aug_all=0.601438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 7624855 rs17031140 G T 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.034;DP=15;ExcessHet=3.0103;FS=2.059;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=-1.338;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17031140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.1542;1000g2015aug_all=0.239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:103,0,251 1 7723957 rs12128526 G A 2291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.113;DP=163;ExcessHet=3.0103;FS=9.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.924;SOR=1.316;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=exonic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAMTA1:NM_001349608:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349612:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349609:exon9:c.G1350A:p.S450S,CAMTA1:NM_001349610:exon9:c.G1350A:p.S450S,CAMTA1:NM_015215:exon9:c.G1350A:p.S450S;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128526;cosmic70=.;CLNALLELEID=134013;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.4539;1000g2015aug_all=0.40016;esp6500siv2_all=0.4300;ExAC_ALL=0.4450;ExAC_AFR=0.3792;ExAC_AMR=0.5023;ExAC_EAS=0.3479;ExAC_FIN=0.5012;ExAC_NFE=0.4652;ExAC_OTH=0.3819;ExAC_SAS=0.3961;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,86:161:99:2320,0,1957 1 7725284 rs4908671 C A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.927;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.995;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.1988;1000g2015aug_all=0.228235;esp6500siv2_all=0.2908;ExAC_ALL=0.3288;ExAC_AFR=0.1683;ExAC_AMR=0.1433;ExAC_EAS=0.1011;ExAC_FIN=0.4429;ExAC_NFE=0.4028;ExAC_OTH=0.3006;ExAC_SAS=0.3561;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,13:33:99:374,0,516 1 7725414 rs4908672 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.2032;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 7737799 rs3011926 A G 1206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.235;DP=86;ExcessHet=3.0103;FS=3.044;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.07;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349614,NM_001349617,NM_001349620,NM_001349621,NM_001349623,NM_001349625,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3011926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.593;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.5855;1000g2015aug_amr=0.5375;1000g2015aug_all=0.591653;esp6500siv2_all=0.5563;ExAC_ALL=0.5498;ExAC_AFR=0.5925;ExAC_AMR=0.4883;ExAC_EAS=0.6461;ExAC_FIN=0.4856;ExAC_NFE=0.5320;ExAC_OTH=0.5973;ExAC_SAS=0.6114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,45:85:99:1235,0,1051 1 7737894 rs148439146 G T 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.937;DP=31;ExcessHet=3.0103;FS=7.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.003;SOR=0.043;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349614,NM_001349617,NM_001349620,NM_001349621,NM_001349623,NM_001349625,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148439146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:416,0,646 1 7757998 rs4908680 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349617,NM_001349620,NM_001349621,NM_001349623,NM_001349625,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.9366;1000g2015aug_all=0.920727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7758760 rs12756299 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349617,NM_001349620,NM_001349621,NM_001349623,NM_001349625,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602973.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.3473;1000g2015aug_all=0.352636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 7761817 rs3011932 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349617,NM_001349620,NM_001349621,NM_001349623,NM_001349625,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3011932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9744;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.9597;1000g2015aug_all=0.942093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7792411 rs2301488 C T 645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.206;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=1.008;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2301488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.4885;1000g2015aug_all=0.455471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,25:44:99:674,0,491 1 7796641 rs2071985 A G 600.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.338;DP=41;ExcessHet=3.0103;FS=4.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.316;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.6715;1000g2015aug_all=0.526757;esp6500siv2_all=0.5048;ExAC_ALL=0.5321;ExAC_AFR=0.4841;ExAC_AMR=0.7154;ExAC_EAS=0.5157;ExAC_FIN=0.5905;ExAC_NFE=0.5109;ExAC_OTH=0.4989;ExAC_SAS=0.5060;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:629,0,732 1 7797734 rs1417986 T A 2078.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1417986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.7752;1000g2015aug_all=0.599241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2107,156,0 1 7805208 rs2071986 G T 275.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476864.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.7767;1000g2015aug_all=0.602436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:304,24,0 1 7807016 rs11121017 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11,ENST00000476864.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.4409;1000g2015aug_all=0.33766;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7807394 rs11121018 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11,ENST00000476864.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e440\x3bName\x3e"12323:Charlie4z(DNA)";avsnp150=rs11121018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.7723;1000g2015aug_all=0.584065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7807897 rs12133253 A G 2500.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=1.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476864.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.7767;1000g2015aug_all=0.605831;esp6500siv2_all=0.6864;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2529,254,0 1 7811014 rs1573753 G A 423.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476864.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.7939;1000g2015aug_all=0.64357;esp6500siv2_all=.;ExAC_ALL=0.6501;ExAC_AFR=0.7302;ExAC_AMR=0.7513;ExAC_EAS=0.5235;ExAC_FIN=0.7351;ExAC_NFE=0.7203;ExAC_OTH=0.6529;ExAC_SAS=0.5897;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:452,42,0 1 7811215 rs10779689 A G 1384.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=1.005;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476864.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.7882;1000g2015aug_all=0.616014;esp6500siv2_all=0.6827;ExAC_ALL=0.6825;ExAC_AFR=0.6184;ExAC_AMR=0.7900;ExAC_EAS=0.4856;ExAC_FIN=0.7034;ExAC_NFE=0.7153;ExAC_OTH=0.6663;ExAC_SAS=0.5775;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1413,126,0 1 7812398 rs9919223 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11,ENST00000476864.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9919223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.643;1000g2015aug_amr=0.7882;1000g2015aug_all=0.628594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 7815554 rs12408963 G A 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.992;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303635.11,ENST00000476864.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0553115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 7826347 rs697672 C T 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMTA1;Func=intronic;Gene=NM_001349608,NM_001349609,NM_001349610,NM_001349612,NM_001349613,NM_001349614,NM_001349615,NM_001349616,NM_001349617,NM_001349618,NM_001349619,NM_001349620,NM_001349621,NM_001349622,NM_001349623,NM_001349624,NM_001349625,NM_001349626,NM_015215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476864.1,ENST00000303635.11;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs697672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9092;1000g2015aug_all=0.908147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 7833485 rs11576572 G A 460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.187;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.51;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAMP3;Func=intronic;Gene=NM_004781;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000470357.1,ENST00000054666.10;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.2795;1000g2015aug_all=0.152556;esp6500siv2_all=0.2051;ExAC_ALL=0.2297;ExAC_AFR=0.0731;ExAC_AMR=0.2311;ExAC_EAS=0.0240;ExAC_FIN=0.3019;ExAC_NFE=0.2701;ExAC_OTH=0.2489;ExAC_SAS=0.2418;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:489,0,424 1 7839405 rs697677 G T 95.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAMP3;Func=intronic;Gene=NM_004781;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000470357.1,ENST00000054666.10;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs697677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.6671;1000g2015aug_all=0.535743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:123,12,0 1 7847226 rs11581279 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377532.7,ENST00000613533.4,ENST00000614998.4,ENST00000361923.2,ENST00000377541.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11581279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 7847836 rs228727 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377532.7,ENST00000613533.4,ENST00000361923.2,ENST00000614998.4,ENST00000377541.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.7075;1000g2015aug_all=0.536741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 7854330 rs11582231 G A 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.282;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377532.7,ENST00000613533.4,ENST00000614998.4,ENST00000361923.2,ENST00000377541.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2216\x3bName\x3e"12378:AluSc(SINE)";avsnp150=rs11582231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0593051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 7861345 rs488728 G A 309.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614998.4,ENST00000361923.2,ENST00000377541.5,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs488728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.6988;1000g2015aug_all=0.525559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:338,27,0 1 7863051 rs72632072 A T 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.369;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.067;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614998.4,ENST00000361923.2,ENST00000377541.5,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72632072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,15:33:99:421,0,546 1 7863293 rs228642 C T 487.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377541.5,ENST00000361923.2,ENST00000614998.4,ENST00000613533.4,ENST00000377532.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.4899;1000g2015aug_all=0.416334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:516,42,0 1 7869915 rs228668 G C 1037.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361923.2,ENST00000614998.4,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9654;1000g2015aug_all=0.976238;esp6500siv2_all=0.9617;ExAC_ALL=0.9693;ExAC_AFR=0.9742;ExAC_AMR=0.9894;ExAC_EAS=0.9998;ExAC_FIN=0.9647;ExAC_NFE=0.9594;ExAC_OTH=0.9773;ExAC_SAS=0.9772;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1066,96,0 1 7870048 rs228669 T C 1810.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=0.808;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=exonic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PER3:NM_001289861:exon12:c.T1338C:p.S446S,PER3:NM_001289862:exon12:c.T1338C:p.S446S,PER3:NM_001289863:exon12:c.T1338C:p.S446S,PER3:NM_001289864:exon12:c.T381C:p.S127S,PER3:NM_016831:exon12:c.T1335C:p.S445S;Gencode=Name\x3eENST00000614998.4,ENST00000361923.2,ENST00000613533.4,ENST00000377532.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.972;1000g2015aug_amr=0.7608;1000g2015aug_all=0.878994;esp6500siv2_all=0.9374;ExAC_ALL=0.8916;ExAC_AFR=0.9634;ExAC_AMR=0.6337;ExAC_EAS=0.7226;ExAC_FIN=0.9525;ExAC_NFE=0.9295;ExAC_OTH=0.9207;ExAC_SAS=0.9361;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1839,159,0 1 7870144 rs228670 A C 1350.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614998.4,ENST00000361923.2,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9654;1000g2015aug_all=0.976238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1379,126,0 1 7880469 rs228691 A G 1056.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361923.2,ENST00000614998.4,ENST00000451646.1,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.7075;1000g2015aug_all=0.552915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1085,90,0 1 7887493 rs228696 T C 2658.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=0.815;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=exonic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P;Gencode=Name\x3eENST00000613533.4,ENST00000377532.7,ENST00000614998.4,ENST00000361923.2;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.9654;1000g2015aug_all=0.97524;esp6500siv2_all=0.9610;ExAC_ALL=0.9688;ExAC_AFR=0.9724;ExAC_AMR=0.9892;ExAC_EAS=0.9990;ExAC_FIN=0.9645;ExAC_NFE=0.9591;ExAC_OTH=0.9769;ExAC_SAS=0.9771;SIFT_score=0.501;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.738;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.435;MutationAssessor_pred=N;FATHMM_score=2.88;FATHMM_pred=T;phyloP100way_vertebrate=0.951;phyloP20way_mammalian=-0.327;SiPhy_29way_logOdds=6.979;gerp++gt2=2.16;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2687,255,0 1 7887926 rs11590657 A G 635.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.305;DP=62;ExcessHet=3.0103;FS=5.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.682;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377532.7,ENST00000613533.4,ENST00000361923.2,ENST00000614998.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0623003;esp6500siv2_all=0.0811;ExAC_ALL=0.0728;ExAC_AFR=0.0971;ExAC_AMR=0.0497;ExAC_EAS=0.0152;ExAC_FIN=0.0512;ExAC_NFE=0.0855;ExAC_OTH=0.0783;ExAC_SAS=0.0602;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,25:62:99:664,0,970 1 7890064 rs12023156 A G 5482.77 PASS AC=2;AF=1;AN=2;DP=163;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=0.921;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=exonic\x3bsplicing;Gene=NM_001289862,NM_001289864,NM_016831\x3bNM_001289861,NM_001289863;GeneDetail=NM_001289861:exon20:c.3002-2A>G\x3bNM_001289863:exon20:c.2981-2A>G;ExonicFunc=synonymous_SNV;AAChange=PER3:NM_001289862:exon19:c.A3057G:p.T1019T,PER3:NM_001289864:exon19:c.A2097G:p.T699T,PER3:NM_016831:exon19:c.A3030G:p.T1010T;Gencode=Name\x3eENST00000614998.4,ENST00000361923.2,ENST00000613533.4,ENST00000377532.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12023156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.2118;1000g2015aug_all=0.244808;esp6500siv2_all=.;ExAC_ALL=0.1347;ExAC_AFR=0.1460;ExAC_AMR=0.0618;ExAC_EAS=0.0671;ExAC_FIN=0.1506;ExAC_NFE=0.1544;ExAC_OTH=0.1582;ExAC_SAS=0.1539;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.791;phyloP20way_mammalian=-1.623;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,163:163:99:5511,488,0 1 7896182 rs12034453 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePER3;Func=intronic;Gene=NM_001289861,NM_001289862,NM_001289863,NM_001289864,NM_016831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361923.2,ENST00000614998.4,ENST00000377532.7,ENST00000613533.4;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1554\x3bName\x3e"12471:AluSx(SINE)";avsnp150=rs12034453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.1455;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 7906255 rs228679 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001289861,NM_006786;GeneDetail=dist\x3e1015\x3bdist\x3e1417;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377516.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2483\x3bName\x3e"12493:AluYm1(SINE)";avsnp150=rs228679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.7061;1000g2015aug_all=0.540535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 7906476 rs172932 G T 2026.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.098;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001289861,NM_006786;GeneDetail=dist\x3e1236\x3bdist\x3e1196;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377516.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs172932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9654;1000g2015aug_all=0.976238;esp6500siv2_all=.;ExAC_ALL=0.9720;ExAC_AFR=0.9728;ExAC_AMR=0.9709;ExAC_EAS=1;ExAC_FIN=0.9575;ExAC_NFE=0.9674;ExAC_OTH=0.9684;ExAC_SAS=0.9774;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2055,204,0 1 7906914 rs10864317 T C 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.702;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.335;SOR=0.75;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_006786,NM_021995;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377516.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1379;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.1455;1000g2015aug_all=0.185104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:351,0,450 1 7911099 rs228651 C T 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.319;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.662;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUTS2;Func=intronic;Gene=NM_006786,NM_021995;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377516.6,ENST00000054668.5,ENST00000361696.9;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.2334;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:276,0,367 1 7913430 rs228648 G A 1975.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUTS2;Func=exonic;Gene=NM_021995;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UTS2:NM_021995:exon1:c.C62T:p.T21M;Gencode=Name\x3eENST00000054668.5,ENST00000377516.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.4092;1000g2015aug_all=0.478435;esp6500siv2_all=0.5370;ExAC_ALL=0.5229;ExAC_AFR=0.4688;ExAC_AMR=0.2982;ExAC_EAS=0.3526;ExAC_FIN=0.4511;ExAC_NFE=0.5730;ExAC_OTH=0.5650;ExAC_SAS=0.6278;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=0.216;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_pred=T;phyloP100way_vertebrate=-0.447;phyloP20way_mammalian=-0.102;SiPhy_29way_logOdds=10.906;gerp++gt2=.;CADD=1.600;CADD_Phred=13.85;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2004,185,0 1 7998963 rs226476 T G 1821.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF9;Func=intronic;Gene=NM_001561;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615230.4,ENST00000377507.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs226476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9813;1000g2015aug_all=0.988019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1850,168,0 1 8031125 rs71653620 G A 1490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.941;DP=119;ExcessHet=3.0103;FS=0.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.484;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARK7;Func=intronic;Gene=NM_001123377,NM_007262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377488.5,ENST00000493678.5,ENST00000338639.9,ENST00000377491.5,ENST00000377493.9;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71653620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,55:118:99:1519,0,1613 1 8037496 rs161807 G A 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.761;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=0.395;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARK7;Func=intronic;Gene=NM_001123377,NM_007262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377488.5,ENST00000493678.5,ENST00000338639.9,ENST00000377491.5,ENST00000377493.9;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs161807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.2248;1000g2015aug_all=0.169529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:247,0,444 1 8064578 rs72634228 A G 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.891;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.776;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_007262,NM_018948;GeneDetail=dist\x3e19236\x3bdist\x3e7201;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000474874.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72634228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.2248;1000g2015aug_all=0.169529;esp6500siv2_all=.;ExAC_ALL=0.5217;ExAC_AFR=0.4375;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.5667;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:205,0,275 1 8086527 rs2294890 T G 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_018948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.6369;1000g2015aug_all=0.641773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 8185643 rs4908734 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e99250\x3bdist\x3e83089;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.7176;1000g2015aug_all=0.659744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8185656 rs4908735 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e99263\x3bdist\x3e83076;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.7176;1000g2015aug_all=0.659944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8208573 rs74865018 G A 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e122180\x3bdist\x3e60159;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2213\x3bName\x3e"13238:AluSz(SINE)";avsnp150=rs74865018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 8217303 rs11121117 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e130910\x3bdist\x3e51429;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1270\x3bName\x3e"13261:MER21C(LTR)";avsnp150=rs11121117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.8228;1000g2015aug_all=0.790535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8217385 rs11121118 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e130992\x3bdist\x3e51347;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1270\x3bName\x3e"13261:MER21C(LTR)";avsnp150=rs11121118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.8228;1000g2015aug_all=0.788538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8217477 rs11121119 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018948,NR_125998;GeneDetail=dist\x3e131084\x3bdist\x3e51255;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1270\x3bName\x3e"13261:MER21C(LTR)";avsnp150=rs11121119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.8228;1000g2015aug_all=0.790335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8285061 rs424168 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e9793\x3bdist\x3e93084;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs424168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.264;1000g2015aug_amr=0.0389;1000g2015aug_all=0.109425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 8285072 rs424160 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e9804\x3bdist\x3e93073;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs424160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.264;1000g2015aug_amr=0.0389;1000g2015aug_all=0.109425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 8319160 . T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e43892\x3bdist\x3e58985;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 8319168 . C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e43900\x3bdist\x3e58977;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 8326572 rs3105756 G C 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e51304\x3bdist\x3e51573;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2361\x3bName\x3e"13612:AluSq2(SINE)";avsnp150=rs3105756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.8082;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.696;1000g2015aug_all=0.700679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 8365177 rs12728882 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e89909\x3bdist\x3e12968;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2160\x3bName\x3e"13716:AluSx3(SINE)";avsnp150=rs12728882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.647;1000g2015aug_all=0.533546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 8365188 rs2401093 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e89920\x3bdist\x3e12957;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2160\x3bName\x3e"13716:AluSx3(SINE)";avsnp150=rs2401093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.8516;1000g2015aug_all=0.890176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8366090 rs10864345 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125998,NM_001080397;GeneDetail=dist\x3e90822\x3bdist\x3e12055;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e863\x3bName\x3e"13719:L1ME3A(LINE)";avsnp150=rs10864345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.351;1000g2015aug_amr=0.6542;1000g2015aug_all=0.560703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8383274 rs6577483 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2453\x3bName\x3e"13774:AluSg(SINE)";avsnp150=rs6577483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9971;1000g2015aug_all=0.995807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 8384268 rs6702047 T C 1166.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9813;1000g2015aug_all=0.972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1195,114,0 1 8385059 rs2292242 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.598;1000g2015aug_all=0.519369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8389942 rs1473498 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.9942;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 8390008 rs1473497 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471889.5,ENST00000289877.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.32;1000g2015aug_amr=0.719;1000g2015aug_all=0.635583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 8390384 rs56125713 G C 1147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.767;DP=93;ExcessHet=3.0103;FS=2.733;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.443;SOR=0.996;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=exonic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC45A1:NM_001080397:exon5:c.G933C:p.L311L;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56125713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.1225;1000g2015aug_all=0.136382;esp6500siv2_all=0.1373;ExAC_ALL=0.1588;ExAC_AFR=0.0646;ExAC_AMR=0.0796;ExAC_EAS=0.0483;ExAC_FIN=0.1213;ExAC_NFE=0.1728;ExAC_OTH=0.1929;ExAC_SAS=0.2876;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,43:93:99:1176,0,1247 1 8390495 rs1058619 A G 4649.77 PASS AC=2;AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=1.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=exonic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P;Gencode=Name\x3eENST00000471889.5,ENST00000289877.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1058619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.7824;1000g2015aug_all=0.776358;esp6500siv2_all=0.7436;ExAC_ALL=0.7693;ExAC_AFR=0.7588;ExAC_AMR=0.7824;ExAC_EAS=0.8524;ExAC_FIN=0.8560;ExAC_NFE=0.7457;ExAC_OTH=0.7664;ExAC_SAS=0.7799;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,144:144:99:4678,428,0 1 8395441 rs2305016 T C 1139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.006;DP=94;ExcessHet=3.0103;FS=1.715;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.885;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBreast_cancer;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.3977;1000g2015aug_all=0.378195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,46:94:99:1168,0,1304 1 8395560 rs7535752 G T 1439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.41;DP=128;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.283;SOR=0.686;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=exonic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC45A1:NM_001080397:exon6:c.G1609T:p.A537S;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBreast_cancer;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.316;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.1859;1000g2015aug_all=0.154353;esp6500siv2_all=0.1619;ExAC_ALL=0.1706;ExAC_AFR=0.1039;ExAC_AMR=0.1235;ExAC_EAS=0.0117;ExAC_FIN=0.1185;ExAC_NFE=0.1861;ExAC_OTH=0.1927;ExAC_SAS=0.2860;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.587;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.06;MutationAssessor_pred=N;FATHMM_score=-1.16;FATHMM_pred=T;phyloP100way_vertebrate=-0.293;phyloP20way_mammalian=0.079;SiPhy_29way_logOdds=13.697;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,59:127:99:1468,0,1782 1 8397130 rs3844031 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=intronic;Gene=NM_001080397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2860\x3bName\x3e"13794:THE1B(LTR)";avsnp150=rs3844031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9899;1000g2015aug_all=0.974042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 8404093 rs1055236 C T 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.791;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.091;SOR=0.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=UTR3;Gene=NM_001080397;GeneDetail=NM_001080397:c.*20C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471889.5,ENST00000289877.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.1902;1000g2015aug_all=0.187101;esp6500siv2_all=0.2329;ExAC_ALL=0.2577;ExAC_AFR=0.1319;ExAC_AMR=0.1860;ExAC_EAS=0.1115;ExAC_FIN=0.3851;ExAC_NFE=0.2926;ExAC_OTH=0.2831;ExAC_SAS=0.2692;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:254,0,171 1 8404169 rs6685844 T A 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A1;Func=UTR3;Gene=NM_001080397;GeneDetail=NM_001080397:c.*96T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289877.8,ENST00000471889.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=1;1000g2015aug_all=0.996605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 8405662 rs13376065 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001080397,NM_012102;GeneDetail=dist\x3e1435\x3bdist\x3e6802;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13376065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.053;1000g2015aug_amr=0.1744;1000g2015aug_all=0.137979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8415418 rs2289733 G A 446.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.502;DP=21;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=-0.112;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400908.6,ENST00000377464.5,ENST00000337907.7,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2289733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.1902;1000g2015aug_all=0.233826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:475,0,195 1 8418644 rs11121172 C A 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.738;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=-1.719;SOR=0.601;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=exonic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R;Gencode=Name\x3eENST00000377464.5,ENST00000400908.6,ENST00000337907.7,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"13824:(GCTCCC)n(Simple_repeat)";avsnp150=rs11121172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.669;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.7795;1000g2015aug_all=0.797524;esp6500siv2_all=0.7308;ExAC_ALL=0.7221;ExAC_AFR=0.8407;ExAC_AMR=0.7936;ExAC_EAS=0.8888;ExAC_FIN=0.5744;ExAC_NFE=0.6787;ExAC_OTH=0.7215;ExAC_SAS=0.7390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,21:38:99:832,0,950 1 8418650 rs1058766 T C 876.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.542;DP=42;ExcessHet=3.0103;FS=1.249;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-1.387;SOR=0.431;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=exonic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R;Gencode=Name\x3eENST00000377464.5,ENST00000400908.6,ENST00000337907.7,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"13824:(GCTCCC)n(Simple_repeat)";avsnp150=rs1058766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.671;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.7795;1000g2015aug_all=0.80012;esp6500siv2_all=0.7339;ExAC_ALL=0.7225;ExAC_AFR=0.8439;ExAC_AMR=0.7936;ExAC_EAS=0.8889;ExAC_FIN=0.5734;ExAC_NFE=0.6795;ExAC_OTH=0.7195;ExAC_SAS=0.7379;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:905,0,983 1 8419766 rs11581418 C T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476556.5,ENST00000337907.7,ENST00000400908.6,ENST00000377464.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11581418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.1369;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 8421203 rs13596 T C 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.761;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.35;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=exonic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P;Gencode=Name\x3eENST00000337907.7,ENST00000400908.6,ENST00000377464.5,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.7925;1000g2015aug_all=0.79992;esp6500siv2_all=0.7292;ExAC_ALL=0.7516;ExAC_AFR=0.8357;ExAC_AMR=0.8187;ExAC_EAS=0.9204;ExAC_FIN=0.6779;ExAC_NFE=0.7104;ExAC_OTH=0.775;ExAC_SAS=0.7536;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,11:34:99:323,0,664 1 8422676 rs2252865 T C 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.035;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.173;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400907.6,ENST00000476556.5,ENST00000337907.7,ENST00000400908.6,ENST00000377464.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eSchizophrenia,Autism_spectrum_disorder,_attention_deficit-hyperactivity_disorder,_bipolar_disorder,_major_depressive_disorder,_and_schizophrenia_(combined);1000g2015aug_eas=0.9196;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.7839;1000g2015aug_all=0.798123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,20:49:99:487,0,777 1 8424039 rs9628991 C G 279.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.032;DP=25;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.971;SOR=0.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476556.5,ENST00000400908.6,ENST00000377464.5,ENST00000337907.7,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9628991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.1945;1000g2015aug_all=0.246805;esp6500siv2_all=.;ExAC_ALL=0.3087;ExAC_AFR=0.4721;ExAC_AMR=0.2705;ExAC_EAS=0.1044;ExAC_FIN=0.2730;ExAC_NFE=0.2918;ExAC_OTH=0.2754;ExAC_SAS=0.3525;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:308,0,539 1 8425900 rs3753275 T C 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.695;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=0.418;SOR=1.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=exonic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RERE:NM_001042681:exon13:c.A1419G:p.T473T,RERE:NM_012102:exon14:c.A1419G:p.T473T;Gencode=Name\x3eENST00000400908.6,ENST00000377464.5,ENST00000337907.7,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eEducational_attainment;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.413;1000g2015aug_amr=0.1945;1000g2015aug_all=0.248203;esp6500siv2_all=0.2495;ExAC_ALL=0.2017;ExAC_AFR=0.3641;ExAC_AMR=0.1324;ExAC_EAS=0.0469;ExAC_FIN=0.1700;ExAC_NFE=0.1913;ExAC_OTH=0.2048;ExAC_SAS=0.2837;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,5:19:99:118,0,391 1 8426236 rs6684863 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_001042682,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337907.7,ENST00000400908.6,ENST00000377464.5,ENST00000476556.5,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.41;1000g2015aug_amr=0.1945;1000g2015aug_all=0.246805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8482797 rs147112611 T C 509.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.08;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.155;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=exonic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RERE:NM_001042681:exon12:c.A1274G:p.N425S,RERE:NM_012102:exon13:c.A1274G:p.N425S;Gencode=Name\x3eENST00000400907.6,ENST00000337907.7,ENST00000400908.6,ENST00000377464.5,ENST00000476556.5;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147112611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000998403;esp6500siv2_all=0.0010;ExAC_ALL=0.0011;ExAC_AFR=9.612e-05;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.293;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=-0.865;MutationAssessor_pred=N;FATHMM_score=1.05;FATHMM_pred=T;phyloP100way_vertebrate=2.263;phyloP20way_mammalian=0.144;SiPhy_29way_logOdds=9.778;gerp++gt2=2.49;CADD=2.354;CADD_Phred=18.52;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:538,0,438 1 8510595 rs301813 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400907.6,ENST00000377464.5,ENST00000400908.6,ENST00000337907.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs301813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.8458;1000g2015aug_all=0.847244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 8526142 rs4908760 G A 908.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.743;DP=79;ExcessHet=3.0103;FS=5.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.005;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400907.6,ENST00000400908.6,ENST00000377464.5,ENST00000337907.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eVitiligo;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.621;1000g2015aug_all=0.690695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,35:79:99:937,0,1180 1 8557320 rs7518608 C G 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.515;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-0.401;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400907.6,ENST00000377464.5,ENST00000400908.6,ENST00000337907.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.497;1000g2015aug_amr=0.5865;1000g2015aug_all=0.596645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:626,0,411 1 8557691 rs7530745 A C 506.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.564;DP=28;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=-0.232;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377464.5,ENST00000400908.6,ENST00000337907.7,ENST00000400907.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.6225;1000g2015aug_all=0.694289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:535,0,333 1 8601118 rs12136689 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRERE;Func=intronic;Gene=NM_001042681,NM_012102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400907.6,ENST00000400908.6,ENST00000337907.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.327;1000g2015aug_afr=0.118;1000g2015aug_amr=0.1873;1000g2015aug_all=0.177117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 8925112 rs2765507 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.368;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENO1;Func=intronic;Gene=NM_001201483,NM_001428;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234590.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.208;1000g2015aug_amr=0.3991;1000g2015aug_all=0.329273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 8926752 rs2781065 T C 649.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.025;DP=41;ExcessHet=3.0103;FS=4.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.358;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENO1;Func=intronic;Gene=NM_001201483,NM_001428;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234590.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e689\x3bName\x3e"14878:FLAM_A(SINE)";avsnp150=rs2781065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9167;1000g2015aug_sas=0.681;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.8588;1000g2015aug_all=0.825879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:678,0,711 1 8926868 rs2781064 C T 340.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.3;ReadPosRankSum=-0.109;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENO1;Func=intronic;Gene=NM_001201483,NM_001428;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234590.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2781064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.18;1000g2015aug_amr=0.3948;1000g2015aug_all=0.31889;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:369,0,202 1 8930369 rs2781060 T C 796.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.125;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.209;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENO1;Func=intronic;Gene=NM_001201483,NM_001428;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234590.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2781060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.681;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.8516;1000g2015aug_all=0.782149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,32:57:99:825,0,601 1 8930385 rs2765511 G A 911.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.079;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.495;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENO1;Func=intronic;Gene=NM_001201483,NM_001428;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234590.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.681;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.8516;1000g2015aug_all=0.781749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,35:60:99:940,0,624 1 8982271 rs12144840 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038351,NM_001215;GeneDetail=dist\x3e42328\x3bdist\x3e23622;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17789\x3bName\x3e"15029:HERVFH21-int(LTR)";avsnp150=rs12144840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.6944;1000g2015aug_amr=0.451;1000g2015aug_all=0.516973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9009214 rs2274326 C T 420.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.757;DP=37;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.799;SOR=1.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377442.3,ENST00000377436.6,ENST00000377443.6,ENST00000480186.7;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.3804;1000g2015aug_all=0.270567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,14:37:99:449,0,765 1 9009406 rs2274327 C T 1847.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.88;DP=163;ExcessHet=3.0103;FS=2.759;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.966;SOR=0.764;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=exonic;Gene=NM_001215,NM_001270500;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M;Gencode=Name\x3eENST00000480186.7,ENST00000377443.6,ENST00000377436.6,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.3775;1000g2015aug_all=0.270168;esp6500siv2_all=0.3225;ExAC_ALL=0.3544;ExAC_AFR=0.1368;ExAC_AMR=0.3180;ExAC_EAS=0.2471;ExAC_FIN=0.4672;ExAC_NFE=0.4141;ExAC_OTH=0.3708;ExAC_SAS=0.2854;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.715;Polyphen2_HVAR_pred=P;LRT_score=0.734;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.335;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;phyloP100way_vertebrate=-0.241;phyloP20way_mammalian=-1.310;SiPhy_29way_logOdds=12.547;gerp++gt2=.;CADD=3.011;CADD_Phred=22.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,73:163:99:1876,0,2540 1 9009444 rs2274328 A C 1725.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.492;DP=148;ExcessHet=3.0103;FS=0.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.404;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=exonic;Gene=NM_001215,NM_001270500;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L;Gencode=Name\x3eENST00000377436.6,ENST00000377443.6,ENST00000480186.7,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.5;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.4712;1000g2015aug_all=0.501398;esp6500siv2_all=0.5311;ExAC_ALL=0.4908;ExAC_AFR=0.5392;ExAC_AMR=0.3747;ExAC_EAS=0.4284;ExAC_FIN=0.5486;ExAC_NFE=0.5145;ExAC_OTH=0.4922;ExAC_SAS=0.4548;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.295;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;phyloP100way_vertebrate=0.643;phyloP20way_mammalian=-0.305;SiPhy_29way_logOdds=4.599;gerp++gt2=2.4;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,62:148:99:1754,0,2410 1 9011537 rs7540307 G A 1885.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.102;DP=183;ExcessHet=3.0103;FS=5.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.023;SOR=0.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377443.6,ENST00000480186.7,ENST00000377436.6,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1256;1000g2015aug_amr=0.3545;1000g2015aug_all=0.232029;esp6500siv2_all=0.3261;ExAC_ALL=0.3259;ExAC_AFR=0.1654;ExAC_AMR=0.2973;ExAC_EAS=0.1439;ExAC_FIN=0.4328;ExAC_NFE=0.3880;ExAC_OTH=0.3398;ExAC_SAS=0.2370;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:106,75:181:99:1914,0,2944 1 9011586 rs3765968 T G 6645.77 PASS AC=2;AF=1;AN=2;DP=207;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=0.882;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377443.6,ENST00000480186.7,ENST00000377436.6,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6352;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.5533;1000g2015aug_all=0.650359;esp6500siv2_all=0.6594;ExAC_ALL=0.6239;ExAC_AFR=0.7101;ExAC_AMR=0.4733;ExAC_EAS=0.7110;ExAC_FIN=0.6250;ExAC_NFE=0.6321;ExAC_OTH=0.6179;ExAC_SAS=0.6098;SIFT_score=0.768;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.32;FATHMM_pred=T;phyloP100way_vertebrate=-2.629;phyloP20way_mammalian=-4.058;SiPhy_29way_logOdds=1.188;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,206:206:99:6674,618,0 1 9011722 rs3765966 G T 4154.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=1.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377436.6,ENST00000377443.6,ENST00000480186.7,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.572;1000g2015aug_all=0.723243;esp6500siv2_all=0.7040;ExAC_ALL=0.6596;ExAC_AFR=0.7959;ExAC_AMR=0.4941;ExAC_EAS=0.8057;ExAC_FIN=0.6574;ExAC_NFE=0.6562;ExAC_OTH=0.6468;ExAC_SAS=0.6473;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.35;FATHMM_pred=T;phyloP100way_vertebrate=-0.417;phyloP20way_mammalian=-0.668;SiPhy_29way_logOdds=3.644;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:4183,358,0 1 9012476 rs7533235 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377436.6,ENST00000377443.6,ENST00000480186.7,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2206\x3bName\x3e"15113:AluSz(SINE)";avsnp150=rs7533235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5331;1000g2015aug_all=0.590056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 9017091 rs2274332 C T 1252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.483;DP=54;ExcessHet=3.0103;FS=1.905;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.2;ReadPosRankSum=1.23;SOR=1.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270500,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377443.6,ENST00000377436.6,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1392;1000g2015aug_amr=0.1715;1000g2015aug_all=0.161941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,37:54:99:1281,0,489 1 9034421 rs3765964 G A 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.364;DP=72;ExcessHet=3.0103;FS=3.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.092;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=exonic;Gene=NM_001270500;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CA6:NM_001270500:exon8:c.G860A:p.G287E;Gencode=Name\x3eENST00000377443.6,ENST00000377436.6,ENST00000377442.3;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.4265;1000g2015aug_all=0.460064;esp6500siv2_all=0.3484;ExAC_ALL=0.5343;ExAC_AFR=0.4610;ExAC_AMR=0.5580;ExAC_EAS=0.675;ExAC_FIN=0.4032;ExAC_NFE=0.5074;ExAC_OTH=0.525;ExAC_SAS=0.5899;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.32;FATHMM_pred=T;phyloP100way_vertebrate=0.000;phyloP20way_mammalian=0.000;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=1.480;CADD_Phred=13.21;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,44:72:99:1093,0,703 1 9034598 rs3765963 A G 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.764;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.28;ReadPosRankSum=1.478;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCA6;Func=intronic;Gene=NM_001215,NM_001270501,NM_001270502;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377442.3,ENST00000377443.6;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.6445;1000g2015aug_amr=0.4611;1000g2015aug_all=0.578275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,23:35:99:668,0,362 1 9067142 rs6672506 G A 307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.65;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=0.326;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.219;1000g2015aug_all=0.166933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:336,0,168 1 9069931 rs72632905 T C 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e468\x3bName\x3e"15268:MER20B(DNA)";avsnp150=rs72632905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.1513;1000g2015aug_all=0.0972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:144,0,104 1 9073801 rs7537425 C T 665.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.923;DP=62;ExcessHet=3.0103;FS=5.711;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.995;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7537425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.5231;1000g2015aug_all=0.424321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,28:62:99:694,0,1052 1 9074861 rs12402973 C T 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.553;DP=39;ExcessHet=3.0103;FS=5.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.612;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=exonic;Gene=NM_207420;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC2A7:NM_207420:exon7:c.G782A:p.R261Q;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12402973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1527;1000g2015aug_all=0.0950479;esp6500siv2_all=0.0750;ExAC_ALL=0.1474;ExAC_AFR=0.0437;ExAC_AMR=0.2657;ExAC_EAS=0.2168;ExAC_FIN=0.1776;ExAC_NFE=0.1491;ExAC_OTH=0.1262;ExAC_SAS=0.0925;SIFT_score=0.234;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.033;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=0.035;MutationAssessor_pred=N;FATHMM_score=-0.73;FATHMM_pred=T;phyloP100way_vertebrate=-0.312;phyloP20way_mammalian=-1.206;SiPhy_29way_logOdds=12.185;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:444,0,631 1 9074932 rs1556757 G A 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.628;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.5317;1000g2015aug_all=0.446486;esp6500siv2_all=0.4011;ExAC_ALL=0.4671;ExAC_AFR=0.5551;ExAC_AMR=0.6591;ExAC_EAS=0.5753;ExAC_FIN=0.4359;ExAC_NFE=0.4201;ExAC_OTH=0.418;ExAC_SAS=0.4104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,222 1 9075369 rs12410702 G C 162.85 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.14;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12410702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1677;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.1527;1000g2015aug_all=0.0960463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:17:191,0,17 1 9084924 rs2027222 T C 1432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.758;DP=87;ExcessHet=3.0103;FS=4.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-2.339;SOR=0.286;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A7;Func=intronic;Gene=NM_207420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400906.1;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2027222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.7859;1000g2015aug_amr=0.8213;1000g2015aug_all=0.817093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,47:87:99:1461,0,1256 1 9098272 rs875995 C T 390.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.003;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.081;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A5;Func=intronic;Gene=NM_001328619,NM_001328620,NM_001328621,NM_003039;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377424.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs875995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.4372;1000g2015aug_amr=0.2305;1000g2015aug_all=0.288139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:419,0,475 1 9098742 rs11121306 G A 1334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.838;DP=77;ExcessHet=3.0103;FS=34.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=0.377;SOR=5.562;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A5;Func=intronic;Gene=NM_001328619,NM_001328620,NM_001328621,NM_003039;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377424.8;cytoBand=1p36.23;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1657;1000g2015aug_all=0.186302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,40:77:99:1363,0,1205 1 9160446 . C G 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.89;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001328619,NM_024980;GeneDetail=dist\x3e28160\x3bdist\x3e4030;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377411.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 9164133 rs3737669 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_024980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377411.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.5476;1000g2015aug_all=0.492412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 9164200 rs3737668 G A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=-1.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_024980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377411.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5418;1000g2015aug_all=0.498802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 9170937 rs1998948 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR157;Func=intronic;Gene=NM_024980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377411.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1998948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.671;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.6628;1000g2015aug_all=0.673922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 9206357 rs4908813 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.842;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024980,NR_132742;GeneDetail=dist\x3e17128\x3bdist\x3e1713;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e45\x3bName\x3e"15638:(CTC)n(Simple_repeat)";avsnp150=rs4908813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.6916;1000g2015aug_all=0.696286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 9222042 rs10864391 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR34AHG;Func=ncRNA_intronic;Gene=NR_132742;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"15668:(A)n(Simple_repeat)";avsnp150=rs10864391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.5159;1000g2015aug_all=0.501398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9223160 rs797252 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR34AHG;Func=ncRNA_intronic;Gene=NR_132742;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs797252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.902;1000g2015aug_all=0.919129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 9261796 rs744613 T A 68.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132738,NM_004285;GeneDetail=dist\x3e9652\x3bdist\x3e33067;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs744613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.3026;1000g2015aug_amr=0.3746;1000g2015aug_all=0.346645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:96,9,0 1 9323491 rs113556335 G A 530.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.49;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.934;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eH6PD;Func=intronic;Gene=NM_001282587,NM_004285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377403.6,ENST00000602477.1;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113556335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0179;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0202;1000g2015aug_all=0.00678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,17:31:99:559,0,454 1 9323910 rs6688832 G A 1460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.094;DP=116;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.533;SOR=0.696;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eH6PD;Func=exonic;Gene=NM_001282587,NM_004285;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=H6PD:NM_001282587:exon5:c.G1391A:p.R464Q,H6PD:NM_004285:exon5:c.G1358A:p.R453Q;Gencode=Name\x3eENST00000602477.1,ENST00000377403.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688832;cosmic70=.;CLNALLELEID=31170;CLNDN=Cortisone_reductase_deficiency_1;CLNDISDB=MedGen:C3551716,OMIM:604931;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.3732;1000g2015aug_all=0.389577;esp6500siv2_all=0.3066;ExAC_ALL=0.2851;ExAC_AFR=0.4620;ExAC_AMR=0.3360;ExAC_EAS=0.4645;ExAC_FIN=0.2290;ExAC_NFE=0.2330;ExAC_OTH=0.2622;ExAC_SAS=0.2784;SIFT_score=0.573;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.301;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.655;MutationAssessor_pred=L;FATHMM_score=-4.83;FATHMM_pred=D;phyloP100way_vertebrate=-0.083;phyloP20way_mammalian=-0.216;SiPhy_29way_logOdds=4.519;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,57:116:99:1489,0,1651 1 9334328 rs2311050 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004285,NM_025106;GeneDetail=dist\x3e2934\x3bdist\x3e18613;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2241\x3bName\x3e"15907:AluSx1(SINE)";avsnp150=rs2311050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.181;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.2291;1000g2015aug_all=0.244808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 9334331 rs2311049 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004285,NM_025106;GeneDetail=dist\x3e2937\x3bdist\x3e18610;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2241\x3bName\x3e"15907:AluSx1(SINE)";avsnp150=rs2311049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.637;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.6153;1000g2015aug_all=0.599441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 9334361 rs2311048 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.65;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004285,NM_025106;GeneDetail=dist\x3e2967\x3bdist\x3e18580;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2241\x3bName\x3e"15907:AluSx1(SINE)";avsnp150=rs2311048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.637;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.6153;1000g2015aug_all=0.599441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 9334362 rs2311047 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004285,NM_025106;GeneDetail=dist\x3e2968\x3bdist\x3e18579;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2241\x3bName\x3e"15907:AluSx1(SINE)";avsnp150=rs2311047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9683;1000g2015aug_all=0.899361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 9345786 rs12760882 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004285,NM_025106;GeneDetail=dist\x3e14392\x3bdist\x3e7155;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12760882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.3905;1000g2015aug_all=0.344649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9386384 rs9725969 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPSB1;Func=intronic;Gene=NM_025106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328089.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9725969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.7867;1000g2015aug_all=0.840256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 9416346 rs3795309 C T 2323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.086;DP=173;ExcessHet=3.0103;FS=1.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.805;SOR=0.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPSB1;Func=exonic;Gene=NM_025106;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPSB1:NM_025106:exon2:c.C396T:p.L132L;Gencode=Name\x3eENST00000377399.2,ENST00000328089.10,ENST00000357898.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.183;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.1758;1000g2015aug_all=0.197085;esp6500siv2_all=0.2304;ExAC_ALL=0.2535;ExAC_AFR=0.0921;ExAC_AMR=0.1220;ExAC_EAS=0.2989;ExAC_FIN=0.3248;ExAC_NFE=0.3016;ExAC_OTH=0.2746;ExAC_SAS=0.1993;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:92,81:173:99:2352,0,2882 1 9417195 rs146313067 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPSB1;Func=intronic;Gene=NM_025106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328089.10,ENST00000377399.2,ENST00000357898.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e255\x3bName\x3e"16061:(ATGG)n(Simple_repeat)";avsnp150=rs146313067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 9417220 rs200987869 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPSB1;Func=intronic;Gene=NM_025106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328089.10,ENST00000377399.2,ENST00000357898.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e255\x3bName\x3e"16061:(ATGG)n(Simple_repeat)";avsnp150=rs200987869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 9417279 rs75850835 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPSB1;Func=intronic;Gene=NM_025106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357898.3,ENST00000328089.10,ENST00000377399.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e255\x3bName\x3e"16061:(ATGG)n(Simple_repeat)";avsnp150=rs75850835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.3495;1000g2015aug_amr=0.549;1000g2015aug_all=0.50639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 9437151 rs12758001 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025106,NR_104622;GeneDetail=dist\x3e7561\x3bdist\x3e48002;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12758001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.5;1000g2015aug_eur=0.3867;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.3184;1000g2015aug_all=0.332069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9481835 rs4130512 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025106,NR_104622;GeneDetail=dist\x3e52245\x3bdist\x3e3318;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e614\x3bName\x3e"16214:MER63A(DNA)";avsnp150=rs4130512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.4914;1000g2015aug_all=0.339657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9516465 rs4078208 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104622,NM_032315;GeneDetail=dist\x3e27410\x3bdist\x3e83063;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4078208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9425;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.7783;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.8213;1000g2015aug_all=0.865216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 9601951 rs4926479 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A33;Func=intronic;Gene=NM_032315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302692.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2433\x3bName\x3e"16574:AluY(SINE)";avsnp150=rs4926479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9856;1000g2015aug_all=0.992412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 9654197 rs7544083 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001010866,NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340381.10,ENST00000340305.9;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e201\x3bName\x3e"16696:MIR(SINE)";avsnp150=rs7544083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7163;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.832;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9035;1000g2015aug_all=0.810104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 9658465 rs9430181 T G 4184.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.187;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001010866,NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340305.9,ENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.8948;1000g2015aug_all=0.773762;esp6500siv2_all=0.7909;ExAC_ALL=0.8129;ExAC_AFR=0.7305;ExAC_AMR=0.9164;ExAC_EAS=0.7235;ExAC_FIN=0.7888;ExAC_NFE=0.8236;ExAC_OTH=0.8088;ExAC_SAS=0.8051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:4213,360,0 1 9658707 rs9430182 G A 3689.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=3;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001010866,NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340305.9,ENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.7767;1000g2015aug_all=0.746406;esp6500siv2_all=0.7887;ExAC_ALL=0.7963;ExAC_AFR=0.7156;ExAC_AMR=0.7587;ExAC_EAS=0.7018;ExAC_FIN=0.7875;ExAC_NFE=0.8256;ExAC_OTH=0.7993;ExAC_SAS=0.8073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3718,300,0 1 9658809 rs9430183 A G 855.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=6.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001010866,NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340305.9,ENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"16701:(TTTAT)n(Simple_repeat)";avsnp150=rs9430183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.8934;1000g2015aug_all=0.768371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:884,66,0 1 9661061 rs9430184 A G 637.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001010866,NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340305.9,ENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.8934;1000g2015aug_all=0.769169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:666,54,0 1 9670483 rs4244632 T A 990.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4244632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.8991;1000g2015aug_all=0.794529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1019,90,0 1 9670834 rs4926472 C T 1432.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=exonic;Gene=NM_001130924;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMEM201:NM_001130924:exon9:c.C1736T:p.P579L;Gencode=Name\x3eENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6468;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.7651;1000g2015aug_all=0.671126;esp6500siv2_all=0.7308;ExAC_ALL=0.7540;ExAC_AFR=0.5558;ExAC_AMR=0.8047;ExAC_EAS=0.6272;ExAC_FIN=0.7407;ExAC_NFE=0.8095;ExAC_OTH=0.7784;ExAC_SAS=0.7550;SIFT_score=0.314;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.492;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.334;phyloP20way_mammalian=-0.247;SiPhy_29way_logOdds=4.433;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1461,143,0 1 9671970 . A T 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.124;DP=48;ExcessHet=3.0103;FS=37.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.639;SOR=5.783;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,17:44:99:127,0,428 1 9672091 rs4073293 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM201;Func=intronic;Gene=NM_001130924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340381.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4073293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.7651;1000g2015aug_all=0.671925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 9714247 rs9430611 A G 2036.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.423;DP=161;ExcessHet=3.0103;FS=1.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.426;SOR=0.774;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3CD-AS1,PIK3CD;Func=ncRNA_intronic;Gene=NR_027045;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628140.2,ENST00000377346.8,ENST00000536656.5,ENST00000377320.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1066;1000g2015aug_all=0.223043;esp6500siv2_all=0.2345;ExAC_ALL=0.2415;ExAC_AFR=0.3043;ExAC_AMR=0.1242;ExAC_EAS=0.2753;ExAC_FIN=0.2891;ExAC_NFE=0.2456;ExAC_OTH=0.2402;ExAC_SAS=0.2196;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,80:161:99:2065,0,2114 1 9714539 rs56017286 T G 669.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.004;DP=37;ExcessHet=3.0103;FS=1.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=1.324;SOR=0.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3CD-AS1,PIK3CD;Func=ncRNA_exonic;Gene=NR_027045;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377320.3,ENST00000536656.5,ENST00000377346.8,ENST00000628140.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56017286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5188;ExAC_AFR=0.8441;ExAC_AMR=0.5927;ExAC_EAS=0.8976;ExAC_FIN=0.4665;ExAC_NFE=0.3736;ExAC_OTH=0.5119;ExAC_SAS=0.7065;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:698,0,3701 1 9778631 rs141192611 G A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.06;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.203;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3CD;Func=intronic;Gene=NM_001350234,NM_001350235,NM_005026;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377346.8,ENST00000628140.2,ENST00000536656.5,ENST00000361110.6,ENST00000543390.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141192611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:375,0,457 1 9781412 rs12735071 C G 1541.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.87;DP=89;ExcessHet=3.0103;FS=1.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.677;SOR=0.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3CD;Func=intronic;Gene=NM_001350234,NM_001350235,NM_005026;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543390.2,ENST00000361110.6,ENST00000536656.5,ENST00000377346.8,ENST00000628140.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12735071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1421;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2882;1000g2015aug_all=0.178315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,53:89:99:1570,0,1156 1 9782386 rs139848768 C T 881.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.392;DP=62;ExcessHet=3.0103;FS=2.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.677;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3CD;Func=exonic;Gene=NM_001350234,NM_001350235,NM_005026;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIK3CD:NM_001350235:exon17:c.C2232T:p.S744S,PIK3CD:NM_001350234:exon18:c.C2316T:p.S772S,PIK3CD:NM_005026:exon18:c.C2319T:p.S773S;Gencode=Name\x3eENST00000543390.2,ENST00000361110.6,ENST00000628140.2,ENST00000377346.8,ENST00000536656.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139848768;cosmic70=.;CLNALLELEID=448272;CLNDN=Immunodeficiency_14;CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.013;1000g2015aug_all=0.00499201;esp6500siv2_all=0.0131;ExAC_ALL=0.0108;ExAC_AFR=0.0035;ExAC_AMR=0.0067;ExAC_EAS=0.0001;ExAC_FIN=0.0041;ExAC_NFE=0.0169;ExAC_OTH=0.0013;ExAC_SAS=0.0027;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,33:62:99:910,0,806 1 9804315 rs150943878 C T 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.784;DP=46;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=0.239;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSTN1;Func=intronic;Gene=NM_001009566,NM_001302883,NM_014944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377298.8,ENST00000361311.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs150943878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,14:46:99:400,0,1139 1 9811653 rs35331030 C T 900.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.088;DP=99;ExcessHet=3.0103;FS=5.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.197;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSTN1;Func=exonic;Gene=NM_001009566,NM_001302883,NM_014944;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLSTN1:NM_014944:exon4:c.G497A:p.G166E,CLSTN1:NM_001009566:exon5:c.G527A:p.G176E,CLSTN1:NM_001302883:exon5:c.G527A:p.G176E;Gencode=Name\x3eENST00000361311.4,ENST00000377298.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35331030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00519169;esp6500siv2_all=0.0130;ExAC_ALL=0.0101;ExAC_AFR=0.0031;ExAC_AMR=0.0064;ExAC_EAS=0.0001;ExAC_FIN=0.0033;ExAC_NFE=0.0158;ExAC_OTH=0.0011;ExAC_SAS=0.0027;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.955;MutationAssessor_pred=M;FATHMM_score=0.71;FATHMM_pred=T;phyloP100way_vertebrate=6.056;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=20.299;gerp++gt2=5.91;CADD=6.145;CADD_Phred=28.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,42:99:99:929,0,1453 1 9816620 rs6680090 T C 701.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSTN1;Func=intronic;Gene=NM_001009566,NM_001302883,NM_014944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361311.4,ENST00000377298.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9888;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9625;1000g2015aug_all=0.982228;esp6500siv2_all=0.9673;ExAC_ALL=0.9673;ExAC_AFR=0.9918;ExAC_AMR=0.9822;ExAC_EAS=0.9979;ExAC_FIN=0.9649;ExAC_NFE=0.9554;ExAC_OTH=0.9701;ExAC_SAS=0.9744;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:730,69,0 1 9992173 rs766140547 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLZIC;Func=intronic;Gene=NM_001316973,NM_001316974,NM_001316975,NM_001316976,NM_032368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400903.6,ENST00000377213.1,ENST00000377223.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2136\x3bName\x3e"17525:AluSq(SINE)";avsnp150=rs766140547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10014386 rs7522568 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT1;Func=intronic;Gene=NM_001297778,NM_001297779,NM_022787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403197.5,ENST00000377205.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1759\x3bName\x3e"17586:AluJr(SINE)";avsnp150=rs7522568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.8847;1000g2015aug_all=0.724241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10027540 rs2890358 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT1;Func=intronic;Gene=NM_001297778,NM_001297779,NM_022787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403197.5,ENST00000377205.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2890358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.827;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.6888;1000g2015aug_all=0.530751;esp6500siv2_all=.;ExAC_ALL=0.9167;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.9167;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10027646 rs2380188 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT1;Func=intronic;Gene=NM_001297778,NM_001297779,NM_022787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377205.5,ENST00000403197.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2380188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.8847;1000g2015aug_all=0.724241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10032291 rs79685493 G A 967.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.272;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.384;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT1;Func=intronic;Gene=NM_001297778,NM_001297779,NM_022787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377205.5,ENST00000403197.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2094\x3bName\x3e"17645:AluSc(SINE)";avsnp150=rs79685493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0239;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=0.0180;ExAC_ALL=0.0171;ExAC_AFR=0.0043;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0321;ExAC_NFE=0.0251;ExAC_OTH=0.0155;ExAC_SAS=0.0018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,33:78:99:996,0,1329 1 10057305 rs111277407 C G 426.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.235;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=0.205;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBP7;Func=UTR5;Gene=NM_052960;GeneDetail=NM_052960:c.-12C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294435.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111277407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0239;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0161741;esp6500siv2_all=0.0219;ExAC_ALL=0.0200;ExAC_AFR=0.0314;ExAC_AMR=0.0087;ExAC_EAS=0.0001;ExAC_FIN=0.0358;ExAC_NFE=0.0269;ExAC_OTH=0.0177;ExAC_SAS=0.0018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:455,0,234 1 10057422 rs112770895 G C 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.744;DP=53;ExcessHet=3.0103;FS=2.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.393;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBP7;Func=intronic;Gene=NM_052960;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294435.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"17730:(AGGCGG)n(Simple_repeat)";avsnp150=rs112770895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0239;1000g2015aug_afr=0.0431;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0185703;esp6500siv2_all=0.0197;ExAC_ALL=0.0190;ExAC_AFR=0.0349;ExAC_AMR=0.0085;ExAC_EAS=0.0001;ExAC_FIN=0.0293;ExAC_NFE=0.0252;ExAC_OTH=0.0144;ExAC_SAS=0.0018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,24:53:99:571,0,718 1 10057670 rs6680076 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBP7;Func=intronic;Gene=NM_052960;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294435.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.83;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.6614;1000g2015aug_all=0.514377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 10155283 rs9430244 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.8238;1000g2015aug_amr=0.9049;1000g2015aug_all=0.848243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 10161300 rs41280792 A G 1017.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.277;DP=91;ExcessHet=3.0103;FS=6.733;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.146;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41280792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0182;ExAC_ALL=0.0171;ExAC_AFR=0.0042;ExAC_AMR=0.0079;ExAC_EAS=0.0001;ExAC_FIN=0.0319;ExAC_NFE=0.0251;ExAC_OTH=0.0163;ExAC_SAS=0.0019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,41:90:99:1046,0,1129 1 10162951 rs72861447 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=2.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72861447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0245607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 10167228 rs72861450 G C 398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.997;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.751;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72861450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.0159;1000g2015aug_all=0.024361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:427,0,347 1 10190884 rs2295294 A T 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.92;DP=40;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.76;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.5288;1000g2015aug_all=0.486821;esp6500siv2_all=0.4799;ExAC_ALL=0.4172;ExAC_AFR=0.6478;ExAC_AMR=0.5132;ExAC_EAS=0.4145;ExAC_FIN=0.3497;ExAC_NFE=0.3804;ExAC_OTH=0.3783;ExAC_SAS=0.3842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:400,0,606 1 10195396 rs61782920 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1084\x3bName\x3e"18129:AluSg7(SINE)";avsnp150=rs61782920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.0331;1000g2015aug_all=0.121605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 10198217 rs11121521 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2263\x3bName\x3e"18136:AluY(SINE)";avsnp150=rs11121521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.1023;1000g2015aug_all=0.249201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10207195 rs78038419 C A 246.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.386;DP=25;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.637;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78038419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0179;ExAC_ALL=0.0168;ExAC_AFR=0.0042;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0321;ExAC_NFE=0.0247;ExAC_OTH=0.0155;ExAC_SAS=0.0019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:275,0,481 1 10209042 rs75691022 A G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75691022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 10211351 rs41280806 G A 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41280806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0182;ExAC_ALL=0.0174;ExAC_AFR=0.0045;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0324;ExAC_NFE=0.0254;ExAC_OTH=0.0158;ExAC_SAS=0.0021;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:186,0,103 1 10211737 rs116021221 G A 450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.422;DP=29;ExcessHet=3.0103;FS=1.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.044;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116021221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:479,0,305 1 10218377 rs2273298 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.664;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.747;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.1873;1000g2015aug_all=0.365016;esp6500siv2_all=0.3112;ExAC_ALL=0.2033;ExAC_AFR=0.6925;ExAC_AMR=0.1206;ExAC_EAS=0.2978;ExAC_FIN=0.1596;ExAC_NFE=0.1352;ExAC_OTH=0.1619;ExAC_SAS=0.1976;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:188,0,419 1 10218439 rs2273299 T C 607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.738;DP=54;ExcessHet=3.0103;FS=4.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.602;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=exonic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBE4B:NM_006048:exon21:c.T2565C:p.S855S,UBE4B:NM_001105562:exon22:c.T2952C:p.S984S;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.1873;1000g2015aug_all=0.365815;esp6500siv2_all=0.3135;ExAC_ALL=0.2030;ExAC_AFR=0.6943;ExAC_AMR=0.1208;ExAC_EAS=0.2975;ExAC_FIN=0.1595;ExAC_NFE=0.1352;ExAC_OTH=0.1645;ExAC_SAS=0.1948;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,24:54:99:636,0,784 1 10218472 rs114291761 T C 773.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.043;DP=67;ExcessHet=3.0103;FS=2.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.64;SOR=1.041;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=exonic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBE4B:NM_006048:exon21:c.T2598C:p.H866H,UBE4B:NM_001105562:exon22:c.T2985C:p.H995H;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114291761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0183;ExAC_ALL=0.0169;ExAC_AFR=0.0043;ExAC_AMR=0.0079;ExAC_EAS=0.0001;ExAC_FIN=0.0321;ExAC_NFE=0.0249;ExAC_OTH=0.0154;ExAC_SAS=0.0019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,33:67:99:802,0,899 1 10221136 rs114631287 G C 545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.046;DP=58;ExcessHet=3.0103;FS=1.109;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.216;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114631287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,22:58:99:574,0,1041 1 10227894 rs6692491 A G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2361\x3bName\x3e"18223:AluSc(SINE)";avsnp150=rs6692491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.196;1000g2015aug_all=0.392372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 10228074 rs114212496 G A 884.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.154;DP=78;ExcessHet=3.0103;FS=2.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.249;SOR=1.042;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343090.10,ENST00000253251.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114212496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,33:78:99:913,0,1151 1 10228158 rs56019503 C A 1473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.67;DP=114;ExcessHet=3.0103;FS=0.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.605;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE4B;Func=intronic;Gene=NM_001105562,NM_006048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000253251.12,ENST00000343090.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56019503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0183;ExAC_ALL=0.0172;ExAC_AFR=0.0044;ExAC_AMR=0.0079;ExAC_EAS=0.0001;ExAC_FIN=0.0322;ExAC_NFE=0.0251;ExAC_OTH=0.0158;ExAC_SAS=0.0020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,54:114:99:1502,0,1636 1 10273916 rs35830240 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377093.8,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1342\x3bName\x3e"18351:AluJr4(SINE)";avsnp150=rs35830240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.3141;1000g2015aug_all=0.252196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10290122 rs149723923 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000377093.8,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1471\x3bName\x3e"18400:AluJr(SINE)";avsnp150=rs149723923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10290126 rs55676616 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000377093.8,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1471\x3bName\x3e"18400:AluJr(SINE)";avsnp150=rs55676616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.3761;1000g2015aug_all=0.3123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10318652 rs12402052 C G 767.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.953;DP=65;ExcessHet=3.0103;FS=4.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.414;SOR=0.642;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=exonic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF1B:NM_015074:exon4:c.C285G:p.A95A,KIF1B:NM_183416:exon4:c.C285G:p.A95A;Gencode=Name\x3eENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377083.5,ENST00000377086.5,ENST00000377093.8,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12402052;cosmic70=.;CLNALLELEID=134845;CLNDN=Pheochromocytoma|Neuroblastoma|not_specified|Charcot-Marie-Tooth,_Type_2;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|Human_Phenotype_Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700|MedGen:CN169374|MedGen:CN239171;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.056;1000g2015aug_amr=0.3199;1000g2015aug_all=0.230032;esp6500siv2_all=0.2273;ExAC_ALL=0.2689;ExAC_AFR=0.0857;ExAC_AMR=0.3522;ExAC_EAS=0.2974;ExAC_FIN=0.2944;ExAC_NFE=0.2872;ExAC_OTH=0.2588;ExAC_SAS=0.2274;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,33:65:99:796,0,835 1 10322054 rs4846209 G A 1657.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5,ENST00000263934.10,ENST00000377086.5,ENST00000377093.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.3833;1000g2015aug_all=0.339856;esp6500siv2_all=0.3432;ExAC_ALL=0.3446;ExAC_AFR=0.3504;ExAC_AMR=0.4015;ExAC_EAS=0.3836;ExAC_FIN=0.3857;ExAC_NFE=0.3460;ExAC_OTH=0.3273;ExAC_SAS=0.2598;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1686,144,0 1 10322153 rs4846210 A G 579.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.151;DP=33;ExcessHet=3.0103;FS=1.45;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=0.824;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377093.8,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.3199;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,21:33:99:608,0,296 1 10322261 rs41280816 G A 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.079;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.125;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1584\x3bName\x3e"18489:AluJo(SINE)";avsnp150=rs41280816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,246 1 10327407 rs12141246 A T 748.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.74;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5,ENST00000263934.10,ENST00000377086.5,ENST00000377093.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.4006;1000g2015aug_all=0.380591;esp6500siv2_all=0.3701;ExAC_ALL=0.3501;ExAC_AFR=0.4177;ExAC_AMR=0.4003;ExAC_EAS=0.4156;ExAC_FIN=0.3899;ExAC_NFE=0.3422;ExAC_OTH=0.3393;ExAC_SAS=0.2564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:777,63,0 1 10327867 rs12141416 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377093.8,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.334;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.3732;1000g2015aug_all=0.325679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,108 1 10328338 rs1339458 C T 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.482;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.732;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000377093.8,ENST00000263934.10,ENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377083.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1339458;cosmic70=.;CLNALLELEID=249267;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.3228;1000g2015aug_all=0.253994;esp6500siv2_all=0.2482;ExAC_ALL=0.2847;ExAC_AFR=0.1592;ExAC_AMR=0.3683;ExAC_EAS=0.3057;ExAC_FIN=0.3001;ExAC_NFE=0.2979;ExAC_OTH=0.2730;ExAC_SAS=0.2358;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:317,0,443 1 10334924 rs17396973 C T 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377093.8,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e349\x3bName\x3e"18515:L1MC5(LINE)";avsnp150=rs17396973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.5144;1000g2015aug_all=0.516773;esp6500siv2_all=.;ExAC_ALL=0.5008;ExAC_AFR=0.6577;ExAC_AMR=0.5;ExAC_EAS=0.3415;ExAC_FIN=0.4975;ExAC_NFE=0.5060;ExAC_OTH=0.4262;ExAC_SAS=0.4858;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 10335315 rs6685773 G A 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377083.5,ENST00000377093.8,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.995;1000g2015aug_afr=1;1000g2015aug_amr=0.9971;1000g2015aug_all=0.998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 10342352 rs3748575 C T 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377093.8,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.5216;1000g2015aug_all=0.535743;esp6500siv2_all=.;ExAC_ALL=0.5098;ExAC_AFR=0.7235;ExAC_AMR=0.5035;ExAC_EAS=0.4170;ExAC_FIN=0.5048;ExAC_NFE=0.5002;ExAC_OTH=0.4704;ExAC_SAS=0.4683;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 10342629 rs3748576 G A 868.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e377\x3bName\x3e"18529:L3(LINE)";avsnp150=rs3748576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.7334;1000g2015aug_all=0.71266;esp6500siv2_all=0.7091;ExAC_ALL=0.6437;ExAC_AFR=0.9249;ExAC_AMR=0.7505;ExAC_EAS=0.5402;ExAC_FIN=0.6738;ExAC_NFE=0.5968;ExAC_OTH=0.6046;ExAC_SAS=0.6252;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:897,72,0 1 10352228 rs76694630 T C 1259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.675;DP=99;ExcessHet=3.0103;FS=0.79;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.221;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000377083.5,ENST00000620295.2,ENST00000622724.3,ENST00000263934.10,ENST00000377086.5,ENST00000377093.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76694630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=0.0186;ExAC_ALL=0.0178;ExAC_AFR=0.0042;ExAC_AMR=0.0078;ExAC_EAS=0.0001;ExAC_FIN=0.0390;ExAC_NFE=0.0255;ExAC_OTH=0.0222;ExAC_SAS=0.0024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,48:99:99:1288,0,1314 1 10354970 rs78106420 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377093.8,ENST00000377081.5,ENST00000377083.5,ENST00000620295.2,ENST00000622724.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78106420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,236 1 10354979 rs115417899 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.842;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115417899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,236 1 10355834 rs3753037 C T 1139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.327;DP=70;ExcessHet=3.0103;FS=0.941;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.858;SOR=0.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5,ENST00000263934.10,ENST00000377093.8,ENST00000377086.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753037;cosmic70=.;CLNALLELEID=172465;CLNDN=Pheochromocytoma|Neuroblastoma|not_specified|Charcot-Marie-Tooth,_Type_2;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|Human_Phenotype_Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700|MedGen:CN169374|MedGen:CN239171;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.3256;1000g2015aug_all=0.263978;esp6500siv2_all=0.2594;ExAC_ALL=0.2787;ExAC_AFR=0.1857;ExAC_AMR=0.3571;ExAC_EAS=0.2976;ExAC_FIN=0.2950;ExAC_NFE=0.2885;ExAC_OTH=0.2627;ExAC_SAS=0.2277;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,39:70:99:1168,0,1016 1 10356562 rs2275424 C A 87.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.308;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-1.303;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.3199;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:99:116,0,423 1 10356848 rs912961 A G 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.849;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.081;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377093.8,ENST00000377086.5,ENST00000263934.10,ENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377083.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.334;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.3732;1000g2015aug_all=0.32508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:392,0,578 1 10357406 rs3748577 A G 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.02;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.064;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074,NM_183416;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000620295.2,ENST00000377083.5,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.334;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.3732;1000g2015aug_all=0.32508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:258,0,209 1 10363664 rs41274458 G T 1906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.777;DP=108;ExcessHet=3.0103;FS=2.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0.643;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=exonic;Gene=NM_183416;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIF1B:NM_183416:exon21:c.G2421T:p.M807I;Gencode=Name\x3eENST00000377081.5,ENST00000377083.5,ENST00000620295.2,ENST00000622724.3,ENST00000263934.10,ENST00000377086.5,ENST00000377093.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41274458;cosmic70=.;CLNALLELEID=215178;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=0.0187;ExAC_ALL=0.0178;ExAC_AFR=0.0042;ExAC_AMR=0.0077;ExAC_EAS=0.0001;ExAC_FIN=0.0393;ExAC_NFE=0.0256;ExAC_OTH=0.0221;ExAC_SAS=0.0024;SIFT_score=0.484;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.62;FATHMM_pred=T;phyloP100way_vertebrate=2.475;phyloP20way_mammalian=0.948;SiPhy_29way_logOdds=14.417;gerp++gt2=5.58;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,65:108:99:1935,0,1233 1 10364057 rs41274462 A G 1908.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.177;DP=138;ExcessHet=3.0103;FS=1.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.376;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=exonic;Gene=NM_183416;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF1B:NM_183416:exon21:c.A2814G:p.T938T;Gencode=Name\x3eENST00000263934.10,ENST00000377093.8,ENST00000377086.5,ENST00000377081.5,ENST00000377083.5,ENST00000620295.2,ENST00000622724.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41274462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00658946;esp6500siv2_all=0.0187;ExAC_ALL=0.0178;ExAC_AFR=0.0042;ExAC_AMR=0.0077;ExAC_EAS=0.0001;ExAC_FIN=0.0393;ExAC_NFE=0.0256;ExAC_OTH=0.0221;ExAC_SAS=0.0024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,70:138:99:1937,0,1853 1 10378428 rs12132134 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.379;1000g2015aug_all=0.327276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 10394536 rs2276100 C G 1524.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.028;DP=108;ExcessHet=3.0103;FS=2.769;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.611;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000263934.10,ENST00000622724.3,ENST00000620295.2,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2276100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3732;1000g2015aug_all=0.333866;esp6500siv2_all=0.3263;ExAC_ALL=0.3220;ExAC_AFR=0.3237;ExAC_AMR=0.3875;ExAC_EAS=0.3775;ExAC_FIN=0.3428;ExAC_NFE=0.3169;ExAC_OTH=0.3051;ExAC_SAS=0.2593;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,56:107:99:1553,0,1400 1 10397049 rs74722876 A G 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.268;DP=57;ExcessHet=3.0103;FS=1.165;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.687;SOR=0.474;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000620295.2,ENST00000622724.3,ENST00000263934.10,ENST00000377086.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74722876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00698882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,24:57:99:663,0,1008 1 10403482 rs1556916 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3833;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 10407953 rs77386448 T C 351.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.378;DP=32;ExcessHet=3.0103;FS=3.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.845;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000263934.10,ENST00000622724.3,ENST00000620295.2,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77386448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0315;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,13:32:99:380,0,497 1 10408901 rs76892482 A G 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.27;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622724.3,ENST00000620295.2,ENST00000377081.5,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1121\x3bName\x3e"18643:AluJo(SINE)";avsnp150=rs76892482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,253 1 10412648 rs80132035 C T 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.215;DP=21;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.783;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377081.5,ENST00000620295.2,ENST00000622724.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80132035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0297;ExAC_ALL=0.0215;ExAC_AFR=0.0408;ExAC_AMR=0.0091;ExAC_EAS=0.0001;ExAC_FIN=0.0413;ExAC_NFE=0.0262;ExAC_OTH=0.0221;ExAC_SAS=0.0026;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:267,0,366 1 10420918 rs3748578 G A 843.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.041;DP=62;ExcessHet=3.0103;FS=5.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.684;SOR=1.435;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000263934.10,ENST00000622724.3,ENST00000620295.2,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.3329;1000g2015aug_all=0.290935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,30:62:99:872,0,878 1 10420937 rs3748579 C T 1101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.069;DP=75;ExcessHet=3.0103;FS=0.896;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-3.223;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620295.2,ENST00000622724.3,ENST00000377081.5,ENST00000263934.10,ENST00000377086.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3761;1000g2015aug_all=0.334065;esp6500siv2_all=0.3262;ExAC_ALL=0.3218;ExAC_AFR=0.3226;ExAC_AMR=0.3872;ExAC_EAS=0.3774;ExAC_FIN=0.3426;ExAC_NFE=0.3168;ExAC_OTH=0.3078;ExAC_SAS=0.2600;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,40:74:99:1130,0,925 1 10421606 rs115487178 A G 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.417;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.235;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000620295.2,ENST00000622724.3,ENST00000263934.10,ENST00000377086.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115487178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:566,0,635 1 10428452 rs12130563 G A 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.048;DP=29;ExcessHet=3.0103;FS=1.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.552;SOR=1.585;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263934.10,ENST00000377086.5,ENST00000377081.5,ENST00000620295.2,ENST00000622724.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e734\x3bName\x3e"18686:MER21B(LTR)";avsnp150=rs12130563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3761;1000g2015aug_all=0.334065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:432,0,386 1 10431158 rs17411502 T C 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.981;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.7;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000263934.10,ENST00000622724.3,ENST00000620295.2,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17411502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3213;1000g2015aug_all=0.249002;esp6500siv2_all=0.2510;ExAC_ALL=0.2772;ExAC_AFR=0.1461;ExAC_AMR=0.3556;ExAC_EAS=0.2888;ExAC_FIN=0.2968;ExAC_NFE=0.2912;ExAC_OTH=0.2627;ExAC_SAS=0.2351;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:401,0,326 1 10435170 rs11121551 T C 857.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=intronic;Gene=NM_015074;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377081.5,ENST00000622724.3,ENST00000620295.2,ENST00000377086.5,ENST00000263934.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3833;1000g2015aug_all=0.341054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:886,66,0 1 10435324 rs11121552 C A 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.019;DP=35;ExcessHet=3.0103;FS=5.058;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.821;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=exonic;Gene=NM_015074;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF1B:NM_015074:exon46:c.C5163A:p.T1721T;Gencode=Name\x3eENST00000377081.5,ENST00000620295.2,ENST00000622724.3,ENST00000263934.10,ENST00000377086.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121552;cosmic70=.;CLNALLELEID=134847;CLNDN=Pheochromocytoma|Neuroblastoma|not_specified|Charcot-Marie-Tooth,_Type_2;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|Human_Phenotype_Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700|MedGen:CN169374|MedGen:CN239171;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.3199;1000g2015aug_all=0.231629;esp6500siv2_all=0.2305;ExAC_ALL=0.2717;ExAC_AFR=0.0866;ExAC_AMR=0.3536;ExAC_EAS=0.2896;ExAC_FIN=0.2961;ExAC_NFE=0.2908;ExAC_OTH=0.2599;ExAC_SAS=0.2351;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:586,0,303 1 10438687 rs1536262 C T 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF1B;Func=UTR3;Gene=NM_015074;GeneDetail=NM_015074:c.*2042C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377086.5,ENST00000620295.2,ENST00000622724.3,ENST00000377081.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536262;cosmic70=.;CLNALLELEID=275844;CLNDN=Pheochromocytoma|Neuroblastoma|Charcot-Marie-Tooth,_Type_2;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|Human_Phenotype_Ontology:HP:0003006,MeSH:D009447,MedGen:C0027819,OMIM:256700|MedGen:CN239171;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.5216;1000g2015aug_all=0.546526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 10459402 rs563200923 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs563200923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0249;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00698882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 10459779 rs3737155 G A 1109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.623;DP=69;ExcessHet=3.0103;FS=2.167;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=0.654;SOR=1.024;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.3732;1000g2015aug_all=0.334465;esp6500siv2_all=0.3282;ExAC_ALL=0.3233;ExAC_AFR=0.3296;ExAC_AMR=0.3890;ExAC_EAS=0.3750;ExAC_FIN=0.3433;ExAC_NFE=0.3186;ExAC_OTH=0.3053;ExAC_SAS=0.2584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,41:69:99:1138,0,678 1 10460485 rs1049887 T C 898.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.627;DP=72;ExcessHet=3.0103;FS=7.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.366;SOR=0.205;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=exonic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PGD:NM_001304451:exon3:c.T120C:p.D40D,PGD:NM_001304452:exon3:c.T81C:p.D27D,PGD:NM_002631:exon3:c.T120C:p.D40D;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1049887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.3199;1000g2015aug_all=0.233826;esp6500siv2_all=0.2332;ExAC_ALL=0.2738;ExAC_AFR=0.0912;ExAC_AMR=0.3560;ExAC_EAS=0.2935;ExAC_FIN=0.2969;ExAC_NFE=0.2931;ExAC_OTH=0.2622;ExAC_SAS=0.2345;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,35:72:99:927,0,1181 1 10471393 rs41274478 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41274478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,98 1 10471789 rs2236678 A T 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.079;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.3732;1000g2015aug_all=0.334864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:212,0,212 1 10473196 rs2229687 C T 991.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.022;DP=87;ExcessHet=3.0103;FS=10.456;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.674;SOR=1.888;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=exonic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PGD:NM_001304451:exon7:c.C666T:p.D222D,PGD:NM_001304452:exon8:c.C693T:p.D231D,PGD:NM_002631:exon8:c.C732T:p.D244D;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.338;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.3732;1000g2015aug_all=0.335064;esp6500siv2_all=0.3283;ExAC_ALL=0.3227;ExAC_AFR=0.3297;ExAC_AMR=0.3893;ExAC_EAS=0.3735;ExAC_FIN=0.3425;ExAC_NFE=0.3176;ExAC_OTH=0.3086;ExAC_SAS=0.2584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,34:87:99:1020,0,1441 1 10479635 rs2298570 C G 6783.77 PASS AC=2;AF=1;AN=2;DP=211;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.5115;1000g2015aug_all=0.517772;esp6500siv2_all=0.5404;ExAC_ALL=0.4756;ExAC_AFR=0.6676;ExAC_AMR=0.4606;ExAC_EAS=0.3659;ExAC_FIN=0.4958;ExAC_NFE=0.4717;ExAC_OTH=0.4449;ExAC_SAS=0.4315;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,211:211:99:6812,632,0 1 10479678 rs1889309 G A 2980.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.609;DP=230;ExcessHet=3.0103;FS=7.217;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.225;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGD;Func=intronic;Gene=NM_001304451,NM_001304452,NM_002631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270776.12;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1889309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.3213;1000g2015aug_all=0.25;esp6500siv2_all=0.2521;ExAC_ALL=0.2779;ExAC_AFR=0.1494;ExAC_AMR=0.3546;ExAC_EAS=0.2926;ExAC_FIN=0.2969;ExAC_NFE=0.2918;ExAC_OTH=0.2621;ExAC_SAS=0.2345;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:119,111:230:99:3009,0,3064 1 10490285 rs649639 T C 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.3;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=-0.508;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPITD1-CORT,APITD1;Func=UTR5;Gene=NM_001270517,NM_198544,NM_199006,NM_199294;GeneDetail=NM_001270517:c.-290T>C\x3bNM_198544:c.-290T>C\x3bNM_199006:c.-290T>C\x3bNM_199294:c.-290T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000607572.1,ENST00000602787.5,ENST00000400900.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e185\x3bName\x3e"18845:L2a(LINE)";avsnp150=rs649639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4643;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.493;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.611;1000g2015aug_all=0.59405;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:52:276,0,52 1 10490789 rs6662684 G C 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=0.21;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPITD1,APITD1-CORT;Func=intronic;Gene=NM_001270517,NM_198544,NM_199006,NM_199294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309048.7,ENST00000602787.5,ENST00000470413.6,ENST00000400900.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.256;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.3674;1000g2015aug_all=0.280351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,216 1 10511544 rs628462 C T 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.048;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.747;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCORT,APITD1-CORT;Func=exonic;Gene=NM_001243768,NM_001302,NM_198544;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A;Gencode=Name\x3eENST00000470413.6,ENST00000602787.5,ENST00000602296.5,ENST00000377049.3,ENST00000400900.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs628462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.319;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.3112;1000g2015aug_all=0.28754;esp6500siv2_all=0.2897;ExAC_ALL=0.3679;ExAC_AFR=0.0723;ExAC_AMR=0.3283;ExAC_EAS=0.4906;ExAC_FIN=0.3945;ExAC_NFE=0.4097;ExAC_OTH=0.4241;ExAC_SAS=0.3250;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:195,0,452 1 10511589 rs666103 T C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPITD1-CORT,CORT;Func=exonic;Gene=NM_001243768,NM_001302,NM_198544;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S;Gencode=Name\x3eENST00000602296.5,ENST00000602787.5,ENST00000470413.6,ENST00000400900.6,ENST00000377049.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs666103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8759;1000g2015aug_amr=0.8213;1000g2015aug_all=0.867612;esp6500siv2_all=0.9269;ExAC_ALL=0.8965;ExAC_AFR=0.8969;ExAC_AMR=0.7740;ExAC_EAS=0.8237;ExAC_FIN=0.8631;ExAC_NFE=0.9404;ExAC_OTH=0.9087;ExAC_SAS=0.8556;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 10529194 rs2781233 T C 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.819;DP=24;ExcessHet=3.0103;FS=2.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.858;SOR=1.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDFFA;Func=intronic;Gene=NM_004401,NM_213566;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377036.2,ENST00000377038.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2781233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.408;1000g2015aug_eur=0.5089;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.3746;1000g2015aug_all=0.364417;esp6500siv2_all=0.4144;ExAC_ALL=0.4673;ExAC_AFR=0.1888;ExAC_AMR=0.3628;ExAC_EAS=0.4758;ExAC_FIN=0.4948;ExAC_NFE=0.5340;ExAC_OTH=0.5124;ExAC_SAS=0.4276;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,7:24:99:220,0,536 1 10555257 rs622623 C T 228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.849;DP=25;ExcessHet=3.0103;FS=3.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.361;SOR=1.567;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs622623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.472;1000g2015aug_amr=0.5288;1000g2015aug_all=0.646965;esp6500siv2_all=0.6362;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:257,0,381 1 10556447 rs648324 G T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs648324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.562;1000g2015aug_all=0.728634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 10556485 rs648399 T C 32.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.036;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs648399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.5375;1000g2015aug_all=0.676917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:61:61,0,69 1 10595211 rs2480780 T C 56.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e194\x3bName\x3e"19078:MamRTE1(LINE)";avsnp150=rs2480780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.8573;1000g2015aug_all=0.773562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10596388 rs2480779 A G 1035.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2480779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.829;1000g2015aug_amr=0.9841;1000g2015aug_all=0.952676;esp6500siv2_all=0.9584;ExAC_ALL=0.9878;ExAC_AFR=0.8703;ExAC_AMR=0.9936;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9933;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1064,96,0 1 10596530 rs2480778 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2480778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.9813;1000g2015aug_all=0.936901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 10615775 rs11121584 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.4856;1000g2015aug_amr=0.8098;1000g2015aug_all=0.670128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10640333 rs4579762 A G 119.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2138\x3bName\x3e"19202:AluSx(SINE)";avsnp150=rs4579762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.9697;1000g2015aug_all=0.91274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:148,18,0 1 10678655 rs284236 T C 711.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs284236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:740,54,0 1 10689391 rs181291606 C T 94.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=intronic;Gene=NM_004565;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs181291606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:122,9,0 1 10689942 rs11539794 G T 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.562;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.223;SOR=0.668;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX14;Func=exonic;Gene=NM_004565;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PEX14:NM_004565:exon9:c.G1032T:p.G344G;Gencode=Name\x3eENST00000356607.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11539794;cosmic70=.;CLNALLELEID=177935;CLNDN=Zellweger_syndrome|not_specified;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.1861;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1326;1000g2015aug_all=0.103634;esp6500siv2_all=0.1408;ExAC_ALL=0.1578;ExAC_AFR=0.0448;ExAC_AMR=0.0831;ExAC_EAS=0.0191;ExAC_FIN=0.2027;ExAC_NFE=0.1920;ExAC_OTH=0.1709;ExAC_SAS=0.1975;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,19:41:99:519,0,648 1 10720339 rs147188438 A C 787.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.68;DP=55;ExcessHet=3.0103;FS=1.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.432;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASZ1;Func=exonic;Gene=NM_001079843,NM_017766;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CASZ1:NM_001079843:exon6:c.T760G:p.W254G,CASZ1:NM_017766:exon6:c.T760G:p.W254G;Gencode=Name\x3eENST00000344008.5,ENST00000377022.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147188438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0002;ExAC_ALL=0.0005;ExAC_AFR=9.905e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.888;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=7.033;phyloP20way_mammalian=1.140;SiPhy_29way_logOdds=13.908;gerp++gt2=4.38;CADD=3.280;CADD_Phred=22.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,27:55:99:816,0,902 1 10920738 rs592431 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e64005\x3bdist\x3e85792;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs592431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.853;1000g2015aug_all=0.871006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 10920745 rs552630 C A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e64012\x3bdist\x3e85785;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs552630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.853;1000g2015aug_all=0.86901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 10970751 . G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e114018\x3bdist\x3e35779;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10970752 . G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e114019\x3bdist\x3e35778;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10979242 rs1280965 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e122509\x3bdist\x3e27288;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2555\x3bName\x3e"19808:AluY(SINE)";avsnp150=rs1280965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.3256;1000g2015aug_all=0.288139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 10980079 rs1612263 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e123346\x3bdist\x3e26451;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1612263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.9135;1000g2015aug_all=0.883986;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10980083 rs1612293 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e123350\x3bdist\x3e26447;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1612293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.663;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.696;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 10989128 rs1769663 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001079843,NM_001170754;GeneDetail=dist\x3e132395\x3bdist\x3e17402;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1769663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.9121;1000g2015aug_all=0.878395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 11029778 rs192952845 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf127;Func=intronic;Gene=NM_001170754;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377004.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e555\x3bName\x3e"19944:L2a(LINE)";avsnp150=rs192952845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:107,0,73 1 11036050 rs79323519 T C 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.636;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf127;Func=intronic;Gene=NM_001170754;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000377004.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79323519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.2248;1000g2015aug_all=0.180511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:241,0,320 1 11072885 rs4133584 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARDBP;Func=intronic;Gene=NM_007375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629725.2,ENST00000240185.7,ENST00000614757.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4133584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.7608;1000g2015aug_all=0.584065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 11074250 rs3765895 A G 134.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARDBP;Func=intronic;Gene=NM_007375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621790.4,ENST00000614757.4,ENST00000240185.7,ENST00000616545.4,ENST00000629725.2,ENST00000315091.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.841;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.8429;1000g2015aug_all=0.845447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:163,15,0 1 11079077 rs2273348 A G 298.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARDBP;Func=intronic;Gene=NM_007375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614757.4,ENST00000621790.4,ENST00000629725.2,ENST00000315091.7,ENST00000240185.7,ENST00000616545.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.682;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.7608;1000g2015aug_all=0.585863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:327,27,0 1 11087524 rs1782455 G A 4438.77 PASS AC=2;AF=1;AN=2;DP=163;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=0.706;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=exonic;Gene=NM_006610;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MASP2:NM_006610:exon11:c.C1479T:p.S493S;Gencode=Name\x3eENST00000400897.7,ENST00000614757.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782455;cosmic70=.;CLNALLELEID=275846;CLNDN=Frontotemporal_dementia|MASP2_deficiency|not_specified|Amyotrophic_Lateral_Sclerosis,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C3151085,OMIM:613791,Orphanet:ORPHA331187|MedGen:CN169374|MedGen:CN239175;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.84;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.7983;1000g2015aug_all=0.6875;esp6500siv2_all=0.6732;ExAC_ALL=0.7855;ExAC_AFR=0.3490;ExAC_AMR=0.8305;ExAC_EAS=0.8675;ExAC_FIN=0.8269;ExAC_NFE=0.8289;ExAC_OTH=0.8084;ExAC_SAS=0.7929;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,159:159:99:4467,464,0 1 11087835 rs1782454 T C 468.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614757.4,ENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.841;1000g2015aug_afr=0.8268;1000g2015aug_amr=0.8429;1000g2015aug_all=0.83726;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:497,39,0 1 11090916 rs12711521 C A 1197.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=exonic;Gene=NM_006610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MASP2:NM_006610:exon9:c.G1111T:p.D371Y;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12711521;cosmic70=.;CLNALLELEID=276142;CLNDN=MASP2_deficiency|not_specified;CLNDISDB=MedGen:C3151085,OMIM:613791,Orphanet:ORPHA331187|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.681;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.171;1000g2015aug_amr=0.7536;1000g2015aug_all=0.58127;esp6500siv2_all=0.6298;ExAC_ALL=0.7359;ExAC_AFR=0.2507;ExAC_AMR=0.8123;ExAC_EAS=0.6551;ExAC_FIN=0.8172;ExAC_NFE=0.8092;ExAC_OTH=0.7616;ExAC_SAS=0.7001;SIFT_score=0.057;SIFT_pred=T;Polyphen2_HDIV_score=0.748;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.566;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.060;MutationTaster_pred=P;MutationAssessor_score=2.855;MutationAssessor_pred=M;FATHMM_score=-0.28;FATHMM_pred=T;phyloP100way_vertebrate=0.882;phyloP20way_mammalian=0.071;SiPhy_29way_logOdds=10.583;gerp++gt2=3.5;CADD=2.949;CADD_Phred=22.1;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1226,111,0 1 11094665 rs11121684 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.967;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2208\x3bName\x3e"20148:AluJb(SINE)";avsnp150=rs11121684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.7637;1000g2015aug_all=0.603634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:59,0,72 1 11095039 rs6695096 C T 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.839;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.8415;1000g2015aug_all=0.842452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 11104676 rs3765901 G A 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e200\x3bName\x3e"20164:MIR1_Amn(SINE)";avsnp150=rs3765901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.7219;1000g2015aug_all=0.577676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 11104712 rs3819991 G A 75.1 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.77;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e200\x3bName\x3e"20164:MIR1_Amn(SINE)";avsnp150=rs3819991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5446;1000g2015aug_amr=0.7522;1000g2015aug_all=0.681909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:11:103,11,0 1 11104845 rs9430347 T C 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.8401;1000g2015aug_all=0.846246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 11105106 rs2273345 C T 2625.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610,NM_139208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400898.3,ENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.171;1000g2015aug_amr=0.7219;1000g2015aug_all=0.577476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2654,187,0 1 11105122 rs2273344 C T 2568.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610,NM_139208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400898.3,ENST00000400897.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.8401;1000g2015aug_all=0.84345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2597,178,0 1 11106359 rs10779750 T C 437.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMASP2;Func=intronic;Gene=NM_006610,NM_139208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400897.7,ENST00000400898.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2245\x3bName\x3e"20167:AluSz(SINE)";avsnp150=rs10779750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8859;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.91;1000g2015aug_amr=0.8401;1000g2015aug_all=0.847045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:466,39,0 1 11119135 rs743577 G A 573.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRM;Func=intronic;Gene=NM_003132;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376957.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs743577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.7032;1000g2015aug_all=0.541334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:602,45,0 1 11119899 rs7545802 T C 559.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRM;Func=exonic;Gene=NM_003132;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SRM:NM_003132:exon1:c.A102G:p.S34S;Gencode=Name\x3eENST00000376957.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:588,48,0 1 11126490 rs2748879 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.15;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2305\x3bName\x3e"20226:AluSc8(SINE)";avsnp150=rs2748879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.605831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 11126517 rs2791660 C T 387.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2305\x3bName\x3e"20226:AluSc8(SINE)";avsnp150=rs2791660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:416,30,0 1 11126569 rs2791659 C A 889.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:918,72,0 1 11126941 rs6701726 C T 1042.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1071,90,0 1 11128329 rs2791656 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.8242;1000g2015aug_all=0.714657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 11128654 rs2791655 G A 1554.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452378.1,ENST00000376936.8,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.202;1000g2015aug_amr=0.7406;1000g2015aug_all=0.590256;esp6500siv2_all=0.5665;ExAC_ALL=0.6805;ExAC_AFR=0.2645;ExAC_AMR=0.7985;ExAC_EAS=0.7946;ExAC_FIN=0.7177;ExAC_NFE=0.7091;ExAC_OTH=0.6810;ExAC_SAS=0.6700;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1583,147,0 1 11129434 rs2748878 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452378.1,ENST00000376936.8,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 11129437 rs2748877 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8,ENST00000452378.1;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 11129848 rs2791653 A G 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.86;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376936.8,ENST00000452378.1,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.8314;1000g2015aug_all=0.726438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 11130643 rs910660 A G 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452378.1,ENST00000376936.8,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs910660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 11132217 rs1130683 G A 787.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=exonic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R;Gencode=Name\x3eENST00000376936.8,ENST00000452378.1,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1130683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60623;esp6500siv2_all=0.5859;ExAC_ALL=0.7022;ExAC_AFR=0.2696;ExAC_AMR=0.8060;ExAC_EAS=0.7950;ExAC_FIN=0.7227;ExAC_NFE=0.7326;ExAC_OTH=0.7081;ExAC_SAS=0.7220;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:816,81,0 1 11132541 rs2791650 G C 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8,ENST00000452378.1;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e570\x3bName\x3e"20234:MIRb(SINE)";avsnp150=rs2791650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.755;1000g2015aug_all=0.60603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 11134157 rs2748876 T G 1568.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376936.8,ENST00000304457.11;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2748876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.4977;1000g2015aug_amr=0.8415;1000g2015aug_all=0.761981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1597,120,0 1 11137778 rs2259886 C T 594.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2259886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.7032;1000g2015aug_all=0.533347;esp6500siv2_all=0.5556;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:623,57,0 1 11141187 rs2258621 C G 2818.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.08;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=exonic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2258621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.8415;1000g2015aug_all=0.772364;esp6500siv2_all=0.6926;ExAC_ALL=0.7790;ExAC_AFR=0.5476;ExAC_AMR=0.8896;ExAC_EAS=0.9412;ExAC_FIN=0.7737;ExAC_NFE=0.7617;ExAC_OTH=0.7892;ExAC_SAS=0.8338;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:2847,267,0 1 11151779 rs1148482 A G 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXOSC10;Func=intronic;Gene=NM_001001998,NM_002685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304457.11,ENST00000376936.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2057\x3bName\x3e"20273:AluSz(SINE)";avsnp150=rs1148482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.8545;1000g2015aug_all=0.80651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 11187893 rs1770344 T C 1210.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8,ENST00000376838.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1770344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.9942;1000g2015aug_all=0.990016;esp6500siv2_all=0.9948;ExAC_ALL=0.9982;ExAC_AFR=0.9818;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1239,111,0 1 11205058 rs1057079 C T 1384.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR-AS1,MTOR;Func=exonic;Gene=NM_004958;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTOR:NM_004958:exon33:c.G4731A:p.A1577A;Gencode=Name\x3eENST00000361445.8,ENST00000445982.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057079;cosmic70=.;CLNALLELEID=497979;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.7017;1000g2015aug_all=0.547524;esp6500siv2_all=0.5459;ExAC_ALL=0.6779;ExAC_AFR=0.1588;ExAC_AMR=0.7357;ExAC_EAS=0.8203;ExAC_FIN=0.7245;ExAC_NFE=0.7321;ExAC_OTH=0.7004;ExAC_SAS=0.6512;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1413,126,0 1 11255238 rs28991014 A G 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=1.29;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR,ANGPTL7;Func=UTR3;Gene=NM_021146;GeneDetail=NM_021146:c.*158A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376819.3,ENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28991014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0265575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,134 1 11272617 rs56410663 C T 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-1.347;SOR=0.05;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56410663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0231;1000g2015aug_all=0.00878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:164,0,373 1 11288618 rs4845985 G A 3418.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=2.327;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.7622;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:3447,286,0 1 11288633 rs4845986 G C 4138.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=2.474;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.7622;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:4167,342,0 1 11288758 rs1064261 G A 9646.77 PASS AC=2;AF=1;AN=2;DP=294;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=exonic;Gene=NM_004958;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTOR:NM_004958:exon19:c.C2997T:p.N999N;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1064261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.865;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.8141;1000g2015aug_all=0.700479;esp6500siv2_all=0.6176;ExAC_ALL=0.7429;ExAC_AFR=0.3842;ExAC_AMR=0.8724;ExAC_EAS=0.9192;ExAC_FIN=0.7455;ExAC_NFE=0.7316;ExAC_OTH=0.7731;ExAC_SAS=0.8284;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,294:294:99:9675,881,0 1 11289161 rs2076655 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.6916;1000g2015aug_all=0.53754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 11292666 rs10864495 T A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2153\x3bName\x3e"20553:AluSx(SINE)";avsnp150=rs10864495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.6902;1000g2015aug_all=0.542332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 11292753 rs2024625 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2153\x3bName\x3e"20553:AluSx(SINE)";avsnp150=rs2024625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.8127;1000g2015aug_all=0.695088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 11293147 rs11121702 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.8112;1000g2015aug_all=0.694489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 11294474 rs718206 T A 776.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs718206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.8112;1000g2015aug_all=0.694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:805,63,0 1 11297762 rs7524202 T C 1698.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.8141;1000g2015aug_all=0.700879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1727,144,0 1 11298790 rs2024627 T C 694.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2024627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.8141;1000g2015aug_all=0.700879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:723,63,0 1 11301714 rs1135172 A G 3477.77 PASS AC=2;AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=exonic;Gene=NM_004958;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTOR:NM_004958:exon10:c.T1437C:p.D479D;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135172;cosmic70=.;CLNALLELEID=498006;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.7622;1000g2015aug_all=0.639577;esp6500siv2_all=0.5853;ExAC_ALL=0.7170;ExAC_AFR=0.2905;ExAC_AMR=0.8029;ExAC_EAS=0.8811;ExAC_FIN=0.7454;ExAC_NFE=0.7313;ExAC_OTH=0.7577;ExAC_SAS=0.7681;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,109:109:99:3506,327,0 1 11317320 rs2092642 C T 2034.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.49;SOR=3.219;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2285\x3bName\x3e"20603:AluSx(SINE)";avsnp150=rs2092642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.6902;1000g2015aug_all=0.540935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2063,171,0 1 11318236 rs7525957 C T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7525957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.7622;1000g2015aug_all=0.639776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 11318763 rs2076657 C G 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.6902;1000g2015aug_all=0.541134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 11319587 rs4845988 A G 843.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTOR;Func=intronic;Gene=NM_004958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361445.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.6902;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:872,78,0 1 11394782 rs2993668 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e35154\x3bdist\x3e144513;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2993668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2925;1000g2015aug_all=0.251797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 11396175 rs2744837 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e36547\x3bdist\x3e143120;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2744837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.389;1000g2015aug_all=0.527356;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 11439588 rs2788557 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e79960\x3bdist\x3e99707;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3075\x3bName\x3e"20925:ERV3-16A3_I-int(LTR)";avsnp150=rs2788557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.5029;1000g2015aug_all=0.532748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 11506010 rs61512998 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e146382\x3bdist\x3e33285;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61512998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.184;1000g2015aug_eur=0.0089;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.0562;1000g2015aug_all=0.172324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 11517702 rs11588311 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e158074\x3bdist\x3e21593;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.9885;1000g2015aug_all=0.91893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 11517703 rs75970119 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330349,NM_020780;GeneDetail=dist\x3e158075\x3bdist\x3e21592;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75970119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.0764;1000g2015aug_all=0.14357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 11561164 rs41274528 G A 1190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.284;DP=73;ExcessHet=3.0103;FS=8.303;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.578;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DISP3:NM_020780:exon2:c.G115A:p.G39R;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41274528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.407;1000g2015aug_amr=0.0764;1000g2015aug_all=0.182708;esp6500siv2_all=0.1513;ExAC_ALL=0.1120;ExAC_AFR=0.3569;ExAC_AMR=0.0400;ExAC_EAS=0.0389;ExAC_FIN=0.1249;ExAC_NFE=0.0736;ExAC_OTH=0.0982;ExAC_SAS=0.2057;SIFT_score=0.568;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.104;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=1.96;FATHMM_pred=T;phyloP100way_vertebrate=1.894;phyloP20way_mammalian=0.108;SiPhy_29way_logOdds=14.125;gerp++gt2=4.85;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,43:73:99:1219,0,779 1 11561593 rs2817580 G A 1738.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.099;DP=115;ExcessHet=3.0103;FS=4.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.449;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DISP3:NM_020780:exon2:c.G544A:p.G182S;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.659;1000g2015aug_afr=0.143;1000g2015aug_amr=0.6311;1000g2015aug_all=0.371805;esp6500siv2_all=0.5130;ExAC_ALL=0.5561;ExAC_AFR=0.2300;ExAC_AMR=0.6722;ExAC_EAS=0.2823;ExAC_FIN=0.6473;ExAC_NFE=0.6451;ExAC_OTH=0.6008;ExAC_SAS=0.3745;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.99;FATHMM_pred=T;phyloP100way_vertebrate=0.571;phyloP20way_mammalian=0.784;SiPhy_29way_logOdds=6.431;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,62:115:99:1767,0,1557 1 11561937 rs12144924 C T 3019.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.799;DP=224;ExcessHet=3.0103;FS=3.078;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.328;SOR=0.918;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DISP3:NM_020780:exon2:c.C888T:p.V296V;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.4047;1000g2015aug_amr=0.0764;1000g2015aug_all=0.182308;esp6500siv2_all=0.1511;ExAC_ALL=0.1136;ExAC_AFR=0.3586;ExAC_AMR=0.0402;ExAC_EAS=0.0391;ExAC_FIN=0.1278;ExAC_NFE=0.0751;ExAC_OTH=0.1023;ExAC_SAS=0.2086;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:114,110:224:99:3048,0,2963 1 11562913 rs60362998 C T 886.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.942;DP=74;ExcessHet=3.0103;FS=0.89;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.168;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DISP3:NM_020780:exon3:c.C1275T:p.F425F;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60362998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.0576;1000g2015aug_all=0.152955;esp6500siv2_all=0.1194;ExAC_ALL=0.1037;ExAC_AFR=0.2589;ExAC_AMR=0.0360;ExAC_EAS=0.0389;ExAC_FIN=0.1248;ExAC_NFE=0.0734;ExAC_OTH=0.0942;ExAC_SAS=0.2089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,39:74:99:915,0,865 1 11575375 rs2594318 T A 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.461;DP=36;ExcessHet=3.0103;FS=1.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.206;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2594318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2758;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.6441;1000g2015aug_all=0.419129;esp6500siv2_all=0.5565;ExAC_ALL=0.5542;ExAC_AFR=0.3562;ExAC_AMR=0.6787;ExAC_EAS=0.2688;ExAC_FIN=0.6369;ExAC_NFE=0.6383;ExAC_OTH=0.5947;ExAC_SAS=0.3582;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:541,0,517 1 11575398 rs12135502 G A 527.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.934;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.375;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.0576;1000g2015aug_all=0.144968;esp6500siv2_all=0.1136;ExAC_ALL=0.1018;ExAC_AFR=0.2394;ExAC_AMR=0.0361;ExAC_EAS=0.0416;ExAC_FIN=0.1252;ExAC_NFE=0.0729;ExAC_OTH=0.0948;ExAC_SAS=0.2061;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,21:47:99:556,0,673 1 11579470 rs2072994 G A 1518.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.9;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.614;SOR=0.727;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DISP3:NM_020780:exon8:c.G1948A:p.A650T;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.6556;1000g2015aug_all=0.359824;esp6500siv2_all=0.4608;ExAC_ALL=0.5442;ExAC_AFR=0.1275;ExAC_AMR=0.7405;ExAC_EAS=0.2644;ExAC_FIN=0.6453;ExAC_NFE=0.6316;ExAC_OTH=0.5996;ExAC_SAS=0.4019;SIFT_score=0.658;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.603;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.84;MutationAssessor_pred=L;FATHMM_score=-2.47;FATHMM_pred=D;phyloP100way_vertebrate=-0.522;phyloP20way_mammalian=-0.233;SiPhy_29way_logOdds=8.041;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,56:127:99:1547,0,1973 1 11584164 rs2076469 A G 374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.529;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.48;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.1354;1000g2015aug_all=0.304712;esp6500siv2_all=0.2537;ExAC_ALL=0.2434;ExAC_AFR=0.4058;ExAC_AMR=0.1253;ExAC_EAS=0.4741;ExAC_FIN=0.2481;ExAC_NFE=0.2009;ExAC_OTH=0.2211;ExAC_SAS=0.2716;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:403,0,395 1 11590776 rs2244401 T A 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.815;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=2.69;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.17;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.183;1000g2015aug_all=0.449281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:99:408,0,280 1 11590778 rs2244400 T A 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.267;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=2.409;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.17;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.183;1000g2015aug_all=0.449281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:99:408,0,280 1 11593640 rs2745297 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1755\x3bName\x3e"21292:L1MB3(LINE)";avsnp150=rs2745297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.9006;1000g2015aug_all=0.945687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 11594400 rs2235663 T C 488.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.929;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0;SOR=0.612;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=intronic;Gene=NM_020780;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294484.6,ENST00000304391.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.944;1000g2015aug_amr=0.3127;1000g2015aug_all=0.638179;esp6500siv2_all=0.5311;ExAC_ALL=0.4529;ExAC_AFR=0.8653;ExAC_AMR=0.2418;ExAC_EAS=0.7540;ExAC_FIN=0.3617;ExAC_NFE=0.3633;ExAC_OTH=0.4031;ExAC_SAS=0.5981;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:517,0,501 1 11596455 rs2594310 C T 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.599;DP=53;ExcessHet=3.0103;FS=2.432;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.223;SOR=0.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCHD2;Func=exonic;Gene=NM_020780;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DISP3:NM_020780:exon21:c.C3891T:p.A1297A;Gencode=Name\x3eENST00000294484.6,ENST00000304391.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2594310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.227;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.612;1000g2015aug_amr=0.0865;1000g2015aug_all=0.243411;esp6500siv2_all=0.2158;ExAC_ALL=0.1326;ExAC_AFR=0.5264;ExAC_AMR=0.0656;ExAC_EAS=0.0587;ExAC_FIN=0.1235;ExAC_NFE=0.0740;ExAC_OTH=0.1069;ExAC_SAS=0.2217;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.706;phyloP20way_mammalian=-1.000;SiPhy_29way_logOdds=1.682;gerp++gt2=.;CADD=1.885;CADD_Phred=15.50;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:699,0,647 1 11657579 rs761086 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020780,NR_104624;GeneDetail=dist\x3e59939\x3bdist\x3e12009;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e612\x3bName\x3e"21449:FLAM_A(SINE)";avsnp150=rs761086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.592;1000g2015aug_eur=0.7863;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.7133;1000g2015aug_all=0.592652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 11695956 rs4636464 C T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104624,NM_012168;GeneDetail=dist\x3e22545\x3bdist\x3e12462;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2658\x3bName\x3e"21569:AluY(SINE)";avsnp150=rs4636464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.7334;1000g2015aug_all=0.610024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 11695968 rs4261122 A G 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104624,NM_012168;GeneDetail=dist\x3e22557\x3bdist\x3e12450;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2658\x3bName\x3e"21569:AluY(SINE)";avsnp150=rs4261122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.7781;1000g2015aug_all=0.658347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 11708736 rs1055547 T C 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.896;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.87;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO2;Func=UTR3;Gene=NM_012168;GeneDetail=NM_012168:c.*15A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354287.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.455;1000g2015aug_eur=0.7783;1000g2015aug_afr=0.348;1000g2015aug_amr=0.6196;1000g2015aug_all=0.504992;esp6500siv2_all=0.6284;ExAC_ALL=0.6481;ExAC_AFR=0.3945;ExAC_AMR=0.5843;ExAC_EAS=0.4098;ExAC_FIN=0.8046;ExAC_NFE=0.7525;ExAC_OTH=0.6705;ExAC_SAS=0.4923;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,20:42:99:539,0,554 1 11710561 rs9614 T G 901.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.793;DP=81;ExcessHet=3.0103;FS=4.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.038;SOR=0.351;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO2;Func=exonic;Gene=NM_012168;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FBXO2:NM_012168:exon2:c.A353C:p.K118T;Gencode=Name\x3eENST00000354287.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.143;1000g2015aug_amr=0.2565;1000g2015aug_all=0.24361;esp6500siv2_all=0.1834;ExAC_ALL=0.2612;ExAC_AFR=0.2024;ExAC_AMR=0.2820;ExAC_EAS=0.5018;ExAC_FIN=0.2666;ExAC_NFE=0.2341;ExAC_OTH=0.2451;ExAC_SAS=0.2466;SIFT_score=0.078;SIFT_pred=T;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.926;Polyphen2_HVAR_pred=D;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.090;MutationTaster_pred=P;MutationAssessor_score=2.42;MutationAssessor_pred=M;FATHMM_score=1.46;FATHMM_pred=T;phyloP100way_vertebrate=1.588;phyloP20way_mammalian=0.888;SiPhy_29way_logOdds=9.006;gerp++gt2=3.91;CADD=4.709;CADD_Phred=24.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,33:81:99:930,0,1276 1 11714368 rs2272983 T G 567.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.39;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO2;Func=intronic;Gene=NM_012168;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354287.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.8732;1000g2015aug_all=0.799121;esp6500siv2_all=0.8139;ExAC_ALL=0.7544;ExAC_AFR=0.7895;ExAC_AMR=0.7679;ExAC_EAS=0.7436;ExAC_FIN=.;ExAC_NFE=0.7676;ExAC_OTH=0.7857;ExAC_SAS=0.7458;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:596,60,0 1 11735377 rs2272982 G C 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.984;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.05;ReadPosRankSum=1.844;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376667.7,ENST00000235310.7,ENST00000376669.9,ENST00000376672.5,ENST00000376692.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.634;1000g2015aug_all=0.605831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:365,0,168 1 11735652 rs2233025 G A 1696.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.497;DP=111;ExcessHet=3.0103;FS=6.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.434;SOR=1.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376692.8,ENST00000376672.5,ENST00000376669.9,ENST00000235310.7,ENST00000376667.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2233025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.025;1000g2015aug_amr=0.2795;1000g2015aug_all=0.154153;esp6500siv2_all=0.1327;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,59:111:99:1725,0,1349 1 11735877 rs2233022 A G 1996.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.675;DP=139;ExcessHet=3.0103;FS=2.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.548;SOR=0.972;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376667.7,ENST00000235310.7,ENST00000376669.9,ENST00000376692.8,ENST00000376672.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2233022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.025;1000g2015aug_amr=0.2795;1000g2015aug_all=0.154553;esp6500siv2_all=.;ExAC_ALL=0.1996;ExAC_AFR=0.0479;ExAC_AMR=0.3262;ExAC_EAS=0.1929;ExAC_FIN=0.3260;ExAC_NFE=0.1985;ExAC_OTH=0.2045;ExAC_SAS=0.1617;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,76:138:99:2025,0,1831 1 11736410 rs3767300 C T 65.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376692.8,ENST00000376672.5,ENST00000376667.7,ENST00000376669.9,ENST00000235310.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e234\x3bName\x3e"21669:MER5B(DNA)";avsnp150=rs3767300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.6354;1000g2015aug_all=0.609225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:94,0,27 1 11737051 rs2294638 G C 436.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.821;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.015;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235310.7,ENST00000376669.9,ENST00000376667.7,ENST00000376672.5,ENST00000376692.8;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.6369;1000g2015aug_all=0.626997;esp6500siv2_all=0.6190;ExAC_ALL=0.5673;ExAC_AFR=0.8594;ExAC_AMR=0.6548;ExAC_EAS=0.4027;ExAC_FIN=0.6667;ExAC_NFE=0.5233;ExAC_OTH=0.5716;ExAC_SAS=0.5503;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,22:60:99:465,0,1086 1 11740358 rs7417320 A G 853.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.772;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.27;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAD2L2;Func=intronic;Gene=NM_001127325,NM_006341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235310.7,ENST00000376669.9,ENST00000376667.7,ENST00000376692.8,ENST00000376672.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.4039;1000g2015aug_amr=0.513;1000g2015aug_all=0.436502;esp6500siv2_all=0.4168;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,34:67:99:882,0,1231 1 11760782 rs1555079 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.8761;1000g2015aug_all=0.848642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 11766424 rs11121804 C T 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.29;DP=41;ExcessHet=3.0103;FS=2.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.083;SOR=1.141;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=exonic;Gene=NM_198545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DRAXIN:NM_198545:exon2:c.C109T:p.L37F;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.1499;1000g2015aug_all=0.150958;esp6500siv2_all=0.1382;ExAC_ALL=0.1594;ExAC_AFR=0.1010;ExAC_AMR=0.1934;ExAC_EAS=0.2929;ExAC_FIN=0.1686;ExAC_NFE=0.1539;ExAC_OTH=0.1541;ExAC_SAS=0.1196;SIFT_score=0.519;SIFT_pred=T;Polyphen2_HDIV_score=0.571;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.395;Polyphen2_HVAR_pred=B;LRT_score=0.170;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=0.89;FATHMM_pred=T;phyloP100way_vertebrate=0.747;phyloP20way_mammalian=0.834;SiPhy_29way_logOdds=0.927;gerp++gt2=.;CADD=2.008;CADD_Phred=16.26;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,16:41:99:418,0,751 1 11766889 rs12132907 A G 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.7003;1000g2015aug_all=0.629992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 11772229 rs60437934 A G 677.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.117;DP=54;ExcessHet=3.0103;FS=2.277;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.001;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60437934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.1614;1000g2015aug_all=0.135184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,24:54:99:706,0,920 1 11772303 rs1883574 A G 1843.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8631;1000g2015aug_all=0.849241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1872,159,0 1 11772526 rs1883573 A G 753.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.38;DP=61;ExcessHet=3.0103;FS=1.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=1.31;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.6023;1000g2015aug_all=0.561102;esp6500siv2_all=0.4997;ExAC_ALL=0.4990;ExAC_AFR=0.5934;ExAC_AMR=0.5870;ExAC_EAS=0.5651;ExAC_FIN=0.4694;ExAC_NFE=0.4550;ExAC_OTH=0.4789;ExAC_SAS=0.5335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,28:61:99:782,0,854 1 11774956 rs9430631 C T 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.253;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.4798;1000g2015aug_all=0.440096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:74,0,69 1 11779499 rs4846028 T C 559.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDRAXIN;Func=intronic;Gene=NM_198545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.6859;1000g2015aug_all=0.529553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:588,48,0 1 11782506 rs34219540 T C 1883.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198545,NM_001040196;GeneDetail=dist\x3e2170\x3bdist\x3e13636;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34219540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.4568;1000g2015aug_all=0.503994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1912,156,0 1 11782814 rs7414943 G A 1049.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198545,NM_001040196;GeneDetail=dist\x3e2478\x3bdist\x3e13328;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1386\x3bName\x3e"21793:MER58B(DNA)";avsnp150=rs7414943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3442;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.4222;1000g2015aug_all=0.386581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1078,93,0 1 11782886 rs6540990 C T 320.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198545,NM_001040196;GeneDetail=dist\x3e2550\x3bdist\x3e13256;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294485.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2307\x3bName\x3e"21794:AluSx(SINE)";avsnp150=rs6540990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.993;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.987;1000g2015aug_all=0.961262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:349,30,0 1 11807426 rs12752700 C T 1478.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGTRAP;Func=intronic;Gene=NM_001040194,NM_001040195,NM_001040196,NM_001040197,NM_020350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400895.6,ENST00000314340.9,ENST00000452018.6,ENST00000376629.8,ENST00000376637.7,ENST00000510878.1,ENST00000376627.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12752700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.177;1000g2015aug_amr=0.6758;1000g2015aug_all=0.555911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1507,135,0 1 11824242 rs4845876 A C 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.777;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.598;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.8401;1000g2015aug_all=0.658347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:168,0,277 1 11824303 rs4845877 T C 348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.727;DP=26;ExcessHet=3.0103;FS=7.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.489;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.662;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.7882;1000g2015aug_all=0.591653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:377,0,412 1 11824346 rs4845878 G A 615.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.65;DP=61;ExcessHet=3.0103;FS=2.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.308;SOR=1.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.7853;1000g2015aug_all=0.582468;esp6500siv2_all=.;ExAC_ALL=0.4906;ExAC_AFR=0.5185;ExAC_AMR=0.4767;ExAC_EAS=0.7836;ExAC_FIN=0.75;ExAC_NFE=0.6235;ExAC_OTH=0.5862;ExAC_SAS=0.4342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,25:61:99:644,0,1065 1 11824556 rs4845879 A G 616.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.515;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.922;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.7882;1000g2015aug_all=0.596446;esp6500siv2_all=.;ExAC_ALL=0.5127;ExAC_AFR=0.5408;ExAC_AMR=0.4891;ExAC_EAS=0.7164;ExAC_FIN=.;ExAC_NFE=0.6326;ExAC_OTH=0.5776;ExAC_SAS=0.4639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,23:49:99:645,0,723 1 11824575 rs10864536 T C 907.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.249;DP=44;ExcessHet=3.0103;FS=5.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.083;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.8775;1000g2015aug_all=0.757588;esp6500siv2_all=.;ExAC_ALL=0.6820;ExAC_AFR=0.7552;ExAC_AMR=0.6522;ExAC_EAS=0.9104;ExAC_FIN=.;ExAC_NFE=0.7034;ExAC_OTH=0.6983;ExAC_SAS=0.6685;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:936,0,904 1 11824578 rs11121825 C T 907.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=43;ExcessHet=3.0103;FS=6.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=0.511;SOR=0.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.7867;1000g2015aug_all=0.595847;esp6500siv2_all=.;ExAC_ALL=0.5098;ExAC_AFR=0.5365;ExAC_AMR=0.4891;ExAC_EAS=0.7;ExAC_FIN=0.5;ExAC_NFE=0.6315;ExAC_OTH=0.5776;ExAC_SAS=0.4614;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,23:43:99:936,0,904 1 11824621 rs11121826 T C 367.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.144;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=1.55;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.659;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.7925;1000g2015aug_all=0.632588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:396,0,341 1 11825851 rs10218813 G C 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.629;DP=25;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.274;SOR=1.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10218813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.7781;1000g2015aug_all=0.651358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:350,0,441 1 11826630 rs6668699 C T 1403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.25;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.729;SOR=0.68;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon3:c.C787T:p.P263S;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.7752;1000g2015aug_all=0.629593;esp6500siv2_all=.;ExAC_ALL=0.6345;ExAC_AFR=0.4954;ExAC_AMR=0.7049;ExAC_EAS=0.7078;ExAC_FIN=0.5;ExAC_NFE=0.6874;ExAC_OTH=0.7273;ExAC_SAS=0.6097;SIFT_score=0.392;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.62;FATHMM_pred=T;phyloP100way_vertebrate=-0.614;phyloP20way_mammalian=0.007;SiPhy_29way_logOdds=5.674;gerp++gt2=2.34;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,48:83:99:1432,0,996 1 11827180 rs6540995 A G 1797.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.9;QD=31.15;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.987;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=0.9928;ExAC_AFR=0.8896;ExAC_AMR=0.9918;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1826,144,0 1 11827304 rs6540996 A G 2930.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf167:NM_001010881:exon4:c.A1326G:p.P442P;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.987;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=0.9956;ExAC_AFR=0.9051;ExAC_AMR=0.9947;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:2959,279,0 1 11827355 rs6540997 A G 325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.847;DP=74;ExcessHet=3.0103;FS=7.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=0.912;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.7767;1000g2015aug_all=0.632987;esp6500siv2_all=.;ExAC_ALL=0.5421;ExAC_AFR=0.4905;ExAC_AMR=0.5813;ExAC_EAS=0.6684;ExAC_FIN=0.6692;ExAC_NFE=0.6333;ExAC_OTH=0.5704;ExAC_SAS=0.4922;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,19:73:99:354,0,1500 1 11828238 rs4845880 G A 559.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.362;DP=56;ExcessHet=3.0103;FS=7.436;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.361;SOR=0.878;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon5:c.G1448A:p.R483Q;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.7738;1000g2015aug_all=0.610623;esp6500siv2_all=.;ExAC_ALL=0.5587;ExAC_AFR=0.4555;ExAC_AMR=0.6277;ExAC_EAS=0.6990;ExAC_FIN=0.7458;ExAC_NFE=0.6512;ExAC_OTH=0.6139;ExAC_SAS=0.4896;SIFT_score=0.341;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=3.27;FATHMM_pred=T;phyloP100way_vertebrate=-2.357;phyloP20way_mammalian=-0.272;SiPhy_29way_logOdds=3.506;gerp++gt2=.;CADD=1.827;CADD_Phred=15.15;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,27:56:99:588,0,810 1 11828319 rs4845881 G A 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.322;DP=77;ExcessHet=3.0103;FS=3.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.585;SOR=1.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon5:c.G1529A:p.R510Q;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.7709;1000g2015aug_all=0.611821;esp6500siv2_all=.;ExAC_ALL=0.5646;ExAC_AFR=0.4781;ExAC_AMR=0.6289;ExAC_EAS=0.6964;ExAC_FIN=0.7695;ExAC_NFE=0.6557;ExAC_OTH=0.6386;ExAC_SAS=0.4896;SIFT_score=0.369;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.255;MutationAssessor_pred=N;FATHMM_score=3.27;FATHMM_pred=T;phyloP100way_vertebrate=-0.037;phyloP20way_mammalian=0.111;SiPhy_29way_logOdds=7.408;gerp++gt2=.;CADD=1.900;CADD_Phred=15.59;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,34:77:99:985,0,1177 1 11831615 rs6667720 C T 868.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.291;DP=91;ExcessHet=3.0103;FS=0.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.513;SOR=0.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon7:c.C1732T:p.R578W;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.6391;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.8141;1000g2015aug_all=0.696286;esp6500siv2_all=.;ExAC_ALL=0.6423;ExAC_AFR=0.5355;ExAC_AMR=0.6862;ExAC_EAS=0.8932;ExAC_FIN=0.7763;ExAC_NFE=0.6735;ExAC_OTH=0.675;ExAC_SAS=0.6058;SIFT_score=0.063;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=3.39;FATHMM_pred=T;phyloP100way_vertebrate=-0.585;phyloP20way_mammalian=-1.604;SiPhy_29way_logOdds=1.628;gerp++gt2=.;CADD=1.560;CADD_Phred=13.63;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,37:91:99:897,0,1459 1 11831756 rs6680385 A G 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.218;DP=44;ExcessHet=3.0103;FS=3.458;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.74;SOR=0.229;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680385;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.817;1000g2015aug_all=0.698083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:471,0,816 1 11832100 rs11121827 T A 718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.793;DP=55;ExcessHet=3.0103;FS=1.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.051;SOR=0.553;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"21929:(TCCTCCC)n(Simple_repeat)";avsnp150=rs11121827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.7594;1000g2015aug_all=0.56869;esp6500siv2_all=.;ExAC_ALL=0.5766;ExAC_AFR=0.4039;ExAC_AMR=0.7565;ExAC_EAS=0.76;ExAC_FIN=0.6863;ExAC_NFE=0.6365;ExAC_OTH=0.5909;ExAC_SAS=0.5124;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,30:55:99:747,0,641 1 11832289 rs61773952 C A 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.853;DP=51;ExcessHet=3.0103;FS=1.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-2.065;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon8:c.C1961A:p.P654H;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61773952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.0793;1000g2015aug_all=0.122005;esp6500siv2_all=.;ExAC_ALL=0.2149;ExAC_AFR=0.0358;ExAC_AMR=0.1285;ExAC_EAS=0.0892;ExAC_FIN=0.2140;ExAC_NFE=0.2024;ExAC_OTH=0.1957;ExAC_SAS=0.2562;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=2.81;FATHMM_pred=T;phyloP100way_vertebrate=1.391;phyloP20way_mammalian=-0.027;SiPhy_29way_logOdds=5.967;gerp++gt2=.;CADD=1.755;CADD_Phred=14.72;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:586,0,869 1 11832311 rs10779764 G C 791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.168;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.84;ReadPosRankSum=2.165;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf167:NM_001010881:exon8:c.G1983C:p.L661L;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.379;1000g2015aug_amr=0.7594;1000g2015aug_all=0.56849;esp6500siv2_all=.;ExAC_ALL=0.5451;ExAC_AFR=0.4104;ExAC_AMR=0.7230;ExAC_EAS=0.7616;ExAC_FIN=0.6712;ExAC_NFE=0.6250;ExAC_OTH=0.6223;ExAC_SAS=0.4610;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,24:38:99:820,0,435 1 11836318 rs6659425 G A 301.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2347\x3bName\x3e"21944:AluSq2(SINE)";avsnp150=rs6659425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.9741;1000g2015aug_all=0.933706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:330,27,0 1 11836441 rs6699669 T C 1706.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=2.362;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.9741;1000g2015aug_all=0.933107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1735,117,0 1 11836442 rs6659541 G A 526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.68;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=2.065;SOR=0.889;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.7594;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,15:39:99:555,0,964 1 11836450 rs12132479 A G 1009.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.714;DP=43;ExcessHet=3.0103;FS=3.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.48;ReadPosRankSum=-1.986;SOR=0.339;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.0793;1000g2015aug_all=0.122404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,27:43:99:1038,0,587 1 11836628 rs6699881 T C 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.073;DP=31;ExcessHet=3.0103;FS=3.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-1.259;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon10:c.T2272C:p.W758R;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.817;1000g2015aug_all=0.70008;esp6500siv2_all=.;ExAC_ALL=0.6899;ExAC_AFR=0.5385;ExAC_AMR=0.8071;ExAC_EAS=0.9038;ExAC_FIN=0.6875;ExAC_NFE=0.7124;ExAC_OTH=0.72;ExAC_SAS=0.6684;SIFT_score=0.879;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=3.61;FATHMM_pred=T;phyloP100way_vertebrate=-0.214;phyloP20way_mammalian=-0.364;SiPhy_29way_logOdds=4.898;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,19:31:99:586,0,340 1 11836682 rs7538516 C T 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.263;DP=27;ExcessHet=3.0103;FS=3.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.632;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon10:c.C2326T:p.R776C;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.7594;1000g2015aug_all=0.570487;esp6500siv2_all=.;ExAC_ALL=0.5952;ExAC_AFR=0.3849;ExAC_AMR=0.7689;ExAC_EAS=0.7552;ExAC_FIN=0.6;ExAC_NFE=0.6240;ExAC_OTH=0.6818;ExAC_SAS=0.5402;SIFT_score=0.125;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=3.42;FATHMM_pred=T;phyloP100way_vertebrate=0.079;phyloP20way_mammalian=-0.934;SiPhy_29way_logOdds=9.192;gerp++gt2=.;CADD=1.727;CADD_Phred=14.56;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:344,0,417 1 11836868 rs4846039 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.652;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e213\x3bName\x3e"21946:L2b(LINE)";avsnp150=rs4846039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.817;1000g2015aug_all=0.70008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 11838646 rs12134663 A C 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.023;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.088;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167,LOC102724659;Func=ncRNA_intronic;Gene=NR_126000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5,ENST00000376620.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHomocysteine_levels;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0793;1000g2015aug_all=0.121006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:311,0,420 1 11838848 rs6697244 G T 567.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.421;DP=51;ExcessHet=3.0103;FS=1.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.066;SOR=0.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102724659,C1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon11:c.G2471T:p.S824I;Gencode=Name\x3eENST00000433342.5,ENST00000376620.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.7594;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=0.5385;ExAC_AFR=0.4070;ExAC_AMR=0.6986;ExAC_EAS=0.7572;ExAC_FIN=0.6759;ExAC_NFE=0.6203;ExAC_OTH=0.6316;ExAC_SAS=0.4537;SIFT_score=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.9;FATHMM_pred=T;phyloP100way_vertebrate=-1.672;phyloP20way_mammalian=0.007;SiPhy_29way_logOdds=6.367;gerp++gt2=.;CADD=3.002;CADD_Phred=22.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,24:51:99:596,0,720 1 11839966 rs4846043 G A 216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.829;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon13:c.G2759A:p.R920H;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.7594;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=0.5237;ExAC_AFR=0.4192;ExAC_AMR=0.6971;ExAC_EAS=0.7619;ExAC_FIN=0.6429;ExAC_NFE=0.6146;ExAC_OTH=0.5855;ExAC_SAS=0.4539;SIFT_score=0.183;SIFT_pred=T;Polyphen2_HDIV_score=0.271;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.046;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=3.29;FATHMM_pred=T;phyloP100way_vertebrate=0.181;phyloP20way_mammalian=-0.268;SiPhy_29way_logOdds=7.551;gerp++gt2=2.44;CADD=4.670;CADD_Phred=24.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,10:12:54:245,0,54 1 11839998 rs4846044 T C 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon13:c.T2791C:p.W931R;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.6029;1000g2015aug_amr=0.9539;1000g2015aug_all=0.879792;esp6500siv2_all=.;ExAC_ALL=0.9479;ExAC_AFR=0.6358;ExAC_AMR=0.9609;ExAC_EAS=0.9976;ExAC_FIN=0.95;ExAC_NFE=0.9584;ExAC_OTH=0.9539;ExAC_SAS=0.9713;SIFT_score=0.932;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.443;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=3.59;FATHMM_pred=T;phyloP100way_vertebrate=0.052;phyloP20way_mammalian=-1.309;SiPhy_29way_logOdds=9.902;gerp++gt2=3.66;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 11842144 rs10864542 C G 242.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.501;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.17;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.382;1000g2015aug_amr=0.7594;1000g2015aug_all=0.569688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,9:35:99:271,0,776 1 11842491 rs61776071 G A 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.984;DP=16;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=0.706;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0793;1000g2015aug_all=0.120807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:370,0,163 1 11844214 rs12135232 A T 395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.597;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-0.296;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0821;1000g2015aug_all=0.122804;esp6500siv2_all=.;ExAC_ALL=0.1823;ExAC_AFR=0.0345;ExAC_AMR=0.0872;ExAC_EAS=0.0954;ExAC_FIN=0.2455;ExAC_NFE=0.2078;ExAC_OTH=0.1731;ExAC_SAS=0.3333;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,18:47:99:424,0,827 1 11844330 rs10864543 C T 976.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.063;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.3;SOR=0.624;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf167:NM_001010881:exon15:c.C3105T:p.A1035A;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.7334;1000g2015aug_all=0.498003;esp6500siv2_all=.;ExAC_ALL=0.5379;ExAC_AFR=0.2211;ExAC_AMR=0.6971;ExAC_EAS=0.7613;ExAC_FIN=0.6878;ExAC_NFE=0.6158;ExAC_OTH=0.625;ExAC_SAS=0.4720;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,41:73:99:1005,0,676 1 11844827 rs4845883 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9741;1000g2015aug_all=0.933506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 11845113 rs11587953 G A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11587953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9741;1000g2015aug_all=0.933506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 11845169 rs11586659 T G 134.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.968;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.647;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11586659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.8055;1000g2015aug_all=0.654752;esp6500siv2_all=.;ExAC_ALL=0.6069;ExAC_AFR=0.4752;ExAC_AMR=0.7330;ExAC_EAS=0.8212;ExAC_FIN=0.6667;ExAC_NFE=0.6729;ExAC_OTH=0.6462;ExAC_SAS=0.5552;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:163,0,197 1 11845518 rs2151655 G C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167;Func=intronic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2151655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.8184;1000g2015aug_all=0.705671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 11847759 rs3737966 C T 123.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.273;DP=15;ExcessHet=3.0103;FS=13.57;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.307;SOR=3.598;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR,C1orf167;Func=UTR3;Gene=NM_001330358,NM_005957;GeneDetail=NM_001330358:c.*2978G>A\x3bNM_005957:c.*2978G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376592.5,ENST00000433342.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737966;cosmic70=.;CLNALLELEID=276668;CLNDN=Neural_tube_defects,_folate-sensitive;CLNDISDB=MedGen:C1866558,OMIM:601634;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.4141;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.354;1000g2015aug_amr=0.7421;1000g2015aug_all=0.558506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:152,0,372 1 11848139 rs11559040 G A 1368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.279;DP=96;ExcessHet=3.0103;FS=5.148;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.511;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR,C1orf167;Func=UTR3;Gene=NM_001330358,NM_005957;GeneDetail=NM_001330358:c.*2598C>T\x3bNM_005957:c.*2598C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376592.5,ENST00000433342.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11559040;cosmic70=.;CLNALLELEID=276111;CLNDN=Neural_tube_defects,_folate-sensitive;CLNDISDB=MedGen:C1866558,OMIM:601634;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.0865;1000g2015aug_all=0.126797;esp6500siv2_all=.;ExAC_ALL=0.2368;ExAC_AFR=0.0531;ExAC_AMR=0.1231;ExAC_EAS=0.0865;ExAC_FIN=0.2037;ExAC_NFE=0.2207;ExAC_OTH=0.2365;ExAC_SAS=0.3093;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,52:96:99:1397,0,1129 1 11848879 rs2077360 A G 1380.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=3.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf167,MTHFR;Func=UTR3;Gene=NM_001330358,NM_005957;GeneDetail=NM_001330358:c.*1858T>C\x3bNM_005957:c.*1858T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376583.7,ENST00000376590.7,ENST00000376592.5,ENST00000376585.5,ENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2077360;cosmic70=.;CLNALLELEID=276650;CLNDN=Neural_tube_defects,_folate-sensitive;CLNDISDB=MedGen:C1866558,OMIM:601634;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.9741;1000g2015aug_all=0.930511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1409,111,0 1 11849447 rs868014 A G 2571.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR,C1orf167;Func=exonic;Gene=NM_001010881;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf167:NM_001010881:exon21:c.A4294G:p.R1432G;Gencode=Name\x3eENST00000376583.7,ENST00000376590.7,ENST00000376592.5,ENST00000376585.5,ENST00000433342.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs868014;cosmic70=.;CLNALLELEID=276356;CLNDN=Neural_tube_defects,_folate-sensitive;CLNDISDB=MedGen:C1866558,OMIM:601634;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.9741;1000g2015aug_all=0.932907;esp6500siv2_all=.;ExAC_ALL=0.9871;ExAC_AFR=0.8024;ExAC_AMR=0.9862;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9988;ExAC_OTH=0.9873;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-5.211;phyloP20way_mammalian=-1.978;SiPhy_29way_logOdds=0.511;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2600,219,0 1 11851003 rs3818762 G C 1042.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.709;DP=56;ExcessHet=3.0103;FS=3.502;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.745;SOR=1.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376583.7,ENST00000376590.7,ENST00000376585.5,ENST00000376592.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1383;1000g2015aug_all=0.246006;esp6500siv2_all=0.2298;ExAC_ALL=0.2544;ExAC_AFR=0.1308;ExAC_AMR=0.1384;ExAC_EAS=0.1997;ExAC_FIN=0.2668;ExAC_NFE=0.2644;ExAC_OTH=0.2698;ExAC_SAS=0.3947;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,32:56:99:1071,0,721 1 11851118 rs7518348 A G 1525.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.17;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376590.7,ENST00000376583.7,ENST00000376592.5,ENST00000376585.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.9683;1000g2015aug_all=0.902157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1554,114,0 1 11851950 rs6700268 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376585.5,ENST00000376592.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6700268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.9827;1000g2015aug_all=0.963259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 11852300 rs1476413 C T 1017.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.088;DP=98;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.363;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376592.5,ENST00000376585.5,ENST00000376583.7,ENST00000376590.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1476413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.1398;1000g2015aug_all=0.251198;esp6500siv2_all=0.2229;ExAC_ALL=0.2677;ExAC_AFR=0.1503;ExAC_AMR=0.1379;ExAC_EAS=0.2225;ExAC_FIN=0.2861;ExAC_NFE=0.2739;ExAC_OTH=0.2848;ExAC_SAS=0.4229;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,42:98:99:1046,0,1397 1 11854457 rs4846051 G A 3048.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.01;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=exonic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F;Gencode=Name\x3eENST00000376592.5,ENST00000376585.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846051;cosmic70=.;CLNALLELEID=177842;CLNDN=Neural_tube_defects,_folate-sensitive|not_specified;CLNDISDB=MedGen:C1866558,OMIM:601634|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.9683;1000g2015aug_all=0.902955;esp6500siv2_all=0.8905;ExAC_ALL=0.9697;ExAC_AFR=0.6834;ExAC_AMR=0.9845;ExAC_EAS=0.9990;ExAC_FIN=1;ExAC_NFE=0.9974;ExAC_OTH=0.9845;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:3077,226,0 1 11854476 rs1801131 T G 1398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.029;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=1.272;SOR=0.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=exonic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MTHFR:NM_001330358:exon8:c.A1409C:p.E470A,MTHFR:NM_005957:exon8:c.A1286C:p.E429A;Gencode=Name\x3eENST00000376583.7,ENST00000376590.7,ENST00000376592.5,ENST00000376585.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1801131;cosmic70=.;CLNALLELEID=18560;CLNDN=Schizophrenia,_susceptibility_to|Gastrointestinal_stroma_tumor|MTHFR_deficiency,_thermolabile_type|Neural_tube_defects,_folate-sensitive|not_specified|fluorouracil,_leucovorin,_and_oxaliplatin_response_-_Efficacy|not_provided;CLNDISDB=.|Human_Phenotype_Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890|MedGen:C1856059|MedGen:C1866558,OMIM:601634|MedGen:CN169374|MedGen:CN236474|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.4172;1000g2015aug_eur=0.3131;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.1513;1000g2015aug_all=0.249401;esp6500siv2_all=0.2596;ExAC_ALL=0.2950;ExAC_AFR=0.1588;ExAC_AMR=0.1555;ExAC_EAS=0.2148;ExAC_FIN=0.3128;ExAC_NFE=0.3191;ExAC_OTH=0.3040;ExAC_SAS=0.4153;SIFT_score=0.1;SIFT_pred=T;Polyphen2_HDIV_score=0.021;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.45;MutationAssessor_pred=L;FATHMM_score=-0.78;FATHMM_pred=T;phyloP100way_vertebrate=3.756;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=13.742;gerp++gt2=4.74;CADD=2.566;CADD_Phred=19.89;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,52:74:99:1427,0,526 1 11854671 rs12121543 C A 895.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.535;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.296;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376590.7,ENST00000376583.7,ENST00000376585.5,ENST00000376592.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:924,0,965 1 11854755 rs1994798 G A 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.8;DP=116;ExcessHet=3.0103;FS=2.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.072;SOR=0.452;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376585.5,ENST00000376592.5,ENST00000376583.7,ENST00000376590.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1994798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.7507;1000g2015aug_all=0.579273;esp6500siv2_all=0.5358;ExAC_ALL=0.5952;ExAC_AFR=0.4376;ExAC_AMR=0.7834;ExAC_EAS=0.7643;ExAC_FIN=0.6482;ExAC_NFE=0.5921;ExAC_OTH=0.5925;ExAC_SAS=0.4655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,53:116:99:1389,0,1789 1 11856378 rs1801133 G A 795.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.54;DP=80;ExcessHet=3.0103;FS=5.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.825;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=exonic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V;Gencode=Name\x3eENST00000376592.5,ENST00000376585.5,ENST00000376583.7,ENST00000376590.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1801133;cosmic70=.;CLNALLELEID=18559;CLNDN=Neoplasm_of_stomach|Gastrointestinal_stroma_tumor|MTHFR_deficiency,_thermolabile_type|Neural_tube_defects,_folate-sensitive|not_specified|carboplatin_response_-_Efficacy|cyclophosphamide_response_-_Toxicity/ADR|methotrexate_response_-_Dosage,_Efficacy,_Toxicity/ADR|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED_CT:126824007|Human_Phenotype_Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890|MedGen:C1856059|MedGen:C1866558,OMIM:601634|MedGen:CN169374|MedGen:CN236495|MedGen:CN236519|MedGen:CN240598|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;gwasCatalog=Name\x3eHomocysteine_levels;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.09;1000g2015aug_amr=0.4741;1000g2015aug_all=0.245407;esp6500siv2_all=0.2706;ExAC_ALL=0.3037;ExAC_AFR=0.1124;ExAC_AMR=0.5141;ExAC_EAS=0.3052;ExAC_FIN=0.2227;ExAC_NFE=0.3450;ExAC_OTH=0.3062;ExAC_SAS=0.1409;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.941;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.965;MutationAssessor_pred=M;FATHMM_score=-4.03;FATHMM_pred=D;phyloP100way_vertebrate=9.137;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=17.432;gerp++gt2=5.08;CADD=4.914;CADD_Phred=25.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,32:80:99:824,0,1407 1 11856821 rs7545331 G C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376583.7,ENST00000376590.7,ENST00000376592.5,ENST00000376585.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e294\x3bName\x3e"21980:L3(LINE)";avsnp150=rs7545331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6581;1000g2015aug_amr=0.9683;1000g2015aug_all=0.903554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 11860120 rs11121832 T C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.328;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376585.5,ENST00000376592.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.68;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6793;1000g2015aug_amr=0.8415;1000g2015aug_all=0.759185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 11860458 rs2066471 C T 782.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.239;DP=52;ExcessHet=3.0103;FS=2.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.685;SOR=1.099;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376592.5,ENST00000376585.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1002;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0778;1000g2015aug_all=0.114018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,30:51:99:811,0,520 1 11860683 rs7533315 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTHFR;Func=intronic;Gene=NM_001330358,NM_005957;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376592.5,ENST00000376585.5,ENST00000376590.7,ENST00000376583.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.68;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.8415;1000g2015aug_all=0.759585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 11867044 rs3737964 T C 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.55;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.47;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376497.7,ENST00000346436.10,ENST00000376496.4,ENST00000312413.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.8401;1000g2015aug_all=0.76857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:222,0,249 1 11876417 rs198391 C T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.651;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376497.7,ENST00000346436.10,ENST00000312413.10,ENST00000376496.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1319\x3bName\x3e"22025:Tigger1(DNA)";avsnp150=rs198391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.7507;1000g2015aug_all=0.59345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,297 1 11879685 rs198393 C T 572.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.918;DP=39;ExcessHet=3.0103;FS=7.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.127;SOR=2.406;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376497.7,ENST00000376496.4,ENST00000312413.10,ENST00000346436.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.2565;1000g2015aug_all=0.425919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:601,0,619 1 11883629 rs198399 T A 143.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.363;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346436.10,ENST00000376496.4,ENST00000312413.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e375\x3bName\x3e"22044:MER5A(DNA)";avsnp150=rs198399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.2695;1000g2015aug_all=0.495208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:172,0,256 1 11884555 rs198400 A G 2775.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=exonic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCN6:NM_001256959:exon7:c.A527G:p.E176G,CLCN6:NM_001286:exon8:c.A593G:p.E198G;Gencode=Name\x3eENST00000346436.10,ENST00000312413.10,ENST00000376496.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=0.9992;ExAC_ALL=0.9994;ExAC_AFR=0.9997;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9990;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.883;MutationTaster_pred=P;MutationAssessor_score=-3.9;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_pred=T;phyloP100way_vertebrate=7.784;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=14.207;gerp++gt2=5.79;CADD=1.519;CADD_Phred=13.41;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2804,255,0 1 11888384 rs198401 A G 502.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.373;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=1.071;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376496.4,ENST00000312413.10,ENST00000346436.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.8684;1000g2015aug_amr=0.2709;1000g2015aug_all=0.496805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,16:23:99:531,0,223 1 11889468 rs535107 A G 411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.195;DP=57;ExcessHet=3.0103;FS=2.903;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=0.365;SOR=1.394;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312413.10,ENST00000376496.4,ENST00000346436.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs535107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.5333;1000g2015aug_amr=0.2478;1000g2015aug_all=0.402756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,17:56:99:440,0,1241 1 11897592 rs198406 A G 716.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.221;DP=72;ExcessHet=3.0103;FS=5.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.058;SOR=1.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346436.10,ENST00000376496.4,ENST00000312413.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.534;1000g2015aug_amr=0.2421;1000g2015aug_all=0.400759;esp6500siv2_all=0.4499;ExAC_ALL=0.3985;ExAC_AFR=0.5426;ExAC_AMR=0.2123;ExAC_EAS=0.2298;ExAC_FIN=0.3609;ExAC_NFE=0.4020;ExAC_OTH=0.4067;ExAC_SAS=0.5278;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,28:72:99:745,0,1280 1 11899033 rs1023252 G T 1629.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.791;DP=123;ExcessHet=3.0103;FS=1.484;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.666;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346436.10,ENST00000376496.4,ENST00000312413.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1023252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eNatriuretic_peptide_levels;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.1354;1000g2015aug_all=0.238419;esp6500siv2_all=.;ExAC_ALL=0.3342;ExAC_AFR=0.1938;ExAC_AMR=0.1934;ExAC_EAS=0.25;ExAC_FIN=0.2925;ExAC_NFE=0.2914;ExAC_OTH=0.2663;ExAC_SAS=0.4131;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.354;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.05;FATHMM_pred=D;phyloP100way_vertebrate=-0.846;phyloP20way_mammalian=-0.427;SiPhy_29way_logOdds=2.591;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,64:123:99:1658,0,1565 1 11900035 rs198410 G A 1267.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=3.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCN6;Func=intronic;Gene=NM_001256959,NM_001286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346436.10,ENST00000312413.10;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1296,111,0 1 11938872 rs61736014 G A 246.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.378;DP=26;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.721;SOR=0.313;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002521,NR_002754;GeneDetail=dist\x3e19880\x3bdist\x3e29339;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61736014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:275,0,404 1 11971345 rs4845889 T C 97.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.006;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.405;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002754,NM_138346;GeneDetail=dist\x3e3016\x3bdist\x3e8300;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1883\x3bName\x3e"22261:MLT2B3(LTR)";avsnp150=rs4845889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.5331;1000g2015aug_all=0.684704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:126,0,100 1 11982544 rs2639453 T C 976.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.193;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.422;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA2013;Func=intronic;Gene=NM_138346;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376576.3,ENST00000616327.1,ENST00000376572.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=Score\x3e0.982282\x3bName\x3echr16:14988008;Repeat=.;avsnp150=rs2639453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.6182;1000g2015aug_all=0.820887;esp6500siv2_all=.;ExAC_ALL=0.8405;ExAC_AFR=0.9244;ExAC_AMR=0.6780;ExAC_EAS=0.7590;ExAC_FIN=0.8611;ExAC_NFE=0.7746;ExAC_OTH=0.8103;ExAC_SAS=0.9123;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,36:74:99:1005,0,1082 1 11982580 rs11555351 G A 1526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.921;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.836;SOR=0.649;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA2013;Func=intronic;Gene=NM_138346;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376572.7,ENST00000616327.1,ENST00000376576.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=Score\x3e0.982282\x3bName\x3echr16:14988008;Repeat=.;avsnp150=rs11555351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.136;1000g2015aug_eur=0.0527;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0854633;esp6500siv2_all=.;ExAC_ALL=0.1216;ExAC_AFR=0.1464;ExAC_AMR=0.0649;ExAC_EAS=0.1164;ExAC_FIN=0.1356;ExAC_NFE=0.0835;ExAC_OTH=0.0714;ExAC_SAS=0.1574;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.919;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.180;phyloP20way_mammalian=-0.002;SiPhy_29way_logOdds=7.590;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,55:102:99:1555,0,1435 1 11983206 rs3795408 A G 3151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.705;DP=232;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=55.25;MQRankSum=-10.671;QD=13.7;ReadPosRankSum=-0.505;SOR=0.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA2013;Func=exonic;Gene=NM_138346;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA2013:NM_138346:exon2:c.T1374C:p.F458F;Gencode=Name\x3eENST00000376576.3,ENST00000616327.1,ENST00000376572.7;cytoBand=1p36.22;wgRna=.;genomicSuperDups=Score\x3e0.982282\x3bName\x3echr16:14988008;Repeat=.;avsnp150=rs3795408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.5317;1000g2015aug_all=0.675319;esp6500siv2_all=0.5933;ExAC_ALL=0.5929;ExAC_AFR=0.7841;ExAC_AMR=0.4751;ExAC_EAS=0.6658;ExAC_FIN=0.6498;ExAC_NFE=0.5515;ExAC_OTH=0.5875;ExAC_SAS=0.6702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,115:230:99:3180,0,2974 1 11995176 rs1208984 A G 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.448;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=-0.631;SOR=0.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e462\x3bName\x3e"22333:MIR(SINE)";avsnp150=rs1208984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.615;1000g2015aug_amr=0.2363;1000g2015aug_all=0.385783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:105,0,210 1 12009956 rs7551175 G A 1550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.578;DP=99;ExcessHet=3.0103;FS=1.689;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0;SOR=0.858;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=exonic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLOD1:NM_000302:exon3:c.G295A:p.A99T,PLOD1:NM_001316320:exon4:c.G436A:p.A146T;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551175;cosmic70=.;CLNALLELEID=193408;CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.5749;1000g2015aug_amr=0.1282;1000g2015aug_all=0.299521;esp6500siv2_all=0.2806;ExAC_ALL=0.1934;ExAC_AFR=0.5457;ExAC_AMR=0.0850;ExAC_EAS=0.2441;ExAC_FIN=0.1138;ExAC_NFE=0.1540;ExAC_OTH=0.1571;ExAC_SAS=0.2145;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.144;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.44;MutationAssessor_pred=N;FATHMM_score=1.99;FATHMM_pred=T;phyloP100way_vertebrate=1.264;phyloP20way_mammalian=-0.196;SiPhy_29way_logOdds=7.715;gerp++gt2=2.9;CADD=1.431;CADD_Phred=12.95;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,62:99:99:1579,0,918 1 12010778 rs60895266 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e537\x3bName\x3e"22377:L2(LINE)";avsnp150=rs60895266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.684;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.4784;1000g2015aug_all=0.625799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 12012409 rs2273286 A G 97.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.969;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-1.366;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.0606;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0948482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:126,0,235 1 12016957 rs41307745 T G 1229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.13;DP=101;ExcessHet=3.0103;FS=6.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.017;SOR=1.31;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41307745;cosmic70=.;CLNALLELEID=364398;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.0606;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0317;1000g2015aug_all=0.076877;esp6500siv2_all=0.0391;ExAC_ALL=0.0708;ExAC_AFR=0.0114;ExAC_AMR=0.0272;ExAC_EAS=0.1420;ExAC_FIN=0.0715;ExAC_NFE=0.0624;ExAC_OTH=0.0617;ExAC_SAS=0.1355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,48:101:99:1258,0,1432 1 12018290 rs2273289 T C 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.5227;1000g2015aug_amr=0.1225;1000g2015aug_all=0.289537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 12024235 rs1130529 C T 648.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.61;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.034;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=exonic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1130529;cosmic70=.;CLNALLELEID=249373;CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.3545;1000g2015aug_all=0.348442;esp6500siv2_all=0.3108;ExAC_ALL=0.3631;ExAC_AFR=0.2908;ExAC_AMR=0.3748;ExAC_EAS=0.3933;ExAC_FIN=0.5194;ExAC_NFE=0.3325;ExAC_OTH=0.3987;ExAC_SAS=0.4434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,32:64:99:677,0,875 1 12026090 rs6678553 A G 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.776;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-1.529;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"22424:(CA)n(Simple_repeat)";avsnp150=rs6678553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.681;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.4798;1000g2015aug_all=0.657548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:328,0,232 1 12027204 rs2273293 C T 658.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.1;DP=24;ExcessHet=3.0103;FS=2.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.45;ReadPosRankSum=-0.875;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.4467;1000g2015aug_all=0.563898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,21:24:53:687,0,53 1 12027308 rs3818157 G A 241.82 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=4.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.4467;1000g2015aug_all=0.563898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:19:270,0,19 1 12030995 rs59235751 A G 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59235751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.7663;1000g2015aug_amr=0.4741;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:70,0,33 1 12033113 rs3737961 A G 1659.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.734;DP=65;ExcessHet=3.0103;FS=4.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.53;ReadPosRankSum=1.153;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.684;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.826;1000g2015aug_amr=0.4784;1000g2015aug_all=0.64976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,42:65:99:1688,0,1382 1 12033120 rs3820190 G C 1620.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.338;DP=62;ExcessHet=3.0103;FS=7.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.14;ReadPosRankSum=1.398;SOR=0.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLOD1;Func=intronic;Gene=NM_000302,NM_001316320;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000196061.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.684;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.4813;1000g2015aug_all=0.659345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,40:62:99:1649,0,1402 1 12052405 rs6675934 G A 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.496;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFN2;Func=intronic;Gene=NM_001127660,NM_014874;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235329.9,ENST00000444836.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e709\x3bName\x3e"22490:MIR(SINE)";avsnp150=rs6675934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9888;1000g2015aug_eur=0.825;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8905;1000g2015aug_all=0.945288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:124,0,376 1 12082926 rs2295283 A G 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.78;DP=38;ExcessHet=3.0103;FS=4.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.518;SOR=0.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIIP;Func=exonic;Gene=NM_021933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MIIP:NM_021933:exon4:c.A499G:p.K167E;Gencode=Name\x3eENST00000235332.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.795;1000g2015aug_amr=0.598;1000g2015aug_all=0.669329;esp6500siv2_all=0.7383;ExAC_ALL=0.7058;ExAC_AFR=0.7973;ExAC_AMR=0.5936;ExAC_EAS=0.5744;ExAC_FIN=0.8337;ExAC_NFE=0.7297;ExAC_OTH=0.7094;ExAC_SAS=0.6438;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.201;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.545;MutationAssessor_pred=N;FATHMM_score=2.68;FATHMM_pred=T;phyloP100way_vertebrate=2.408;phyloP20way_mammalian=0.038;SiPhy_29way_logOdds=5.711;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,16:38:99:350,0,634 1 12091210 rs946461 T C 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.547;DP=19;ExcessHet=3.0103;FS=9.108;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=2.37;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIIP;Func=intronic;Gene=NM_021933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235332.5;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.6153;1000g2015aug_all=0.707867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:408,0,195 1 12164391 rs11569850 G C 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.027;DP=45;ExcessHet=3.0103;FS=1.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.209;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11569850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1012;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0601038;esp6500siv2_all=0.0578;ExAC_ALL=0.0669;ExAC_AFR=0.0133;ExAC_AMR=0.0861;ExAC_EAS=0.0575;ExAC_FIN=0.0684;ExAC_NFE=0.0714;ExAC_OTH=0.0808;ExAC_SAS=0.0728;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,18:45:99:502,0,818 1 12164675 rs11569852 G A 1117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.086;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.116;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11569852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0865;1000g2015aug_all=0.0595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,39:74:99:1146,0,1104 1 12169977 rs11569873 C G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.732;DP=9;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.09;ReadPosRankSum=0.751;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11569873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0865;1000g2015aug_all=0.0589058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:64:218,0,64 1 12170288 rs2297729 G A 1137.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.084;DP=87;ExcessHet=3.0103;FS=7.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.209;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.0922;1000g2015aug_all=0.0776757;esp6500siv2_all=0.0750;ExAC_ALL=0.0739;ExAC_AFR=0.0683;ExAC_AMR=0.0907;ExAC_EAS=0.0583;ExAC_FIN=0.0704;ExAC_NFE=0.0737;ExAC_OTH=0.0875;ExAC_SAS=0.0764;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,48:87:99:1166,0,1130 1 12170425 rs3818804 G T 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.949;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.457;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.0922;1000g2015aug_all=0.077476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:297,0,205 1 12170494 rs11121865 C G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.842;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417814.3,ENST00000263932.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.0922;1000g2015aug_all=0.0778754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 12171730 rs11121870 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417814.3,ENST00000263932.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11121870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0615;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0579073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 12175818 rs598661 A G 1480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.612;DP=116;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.251;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs598661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.4121;1000g2015aug_all=0.399561;esp6500siv2_all=0.3107;ExAC_ALL=0.3032;ExAC_AFR=0.5061;ExAC_AMR=0.4931;ExAC_EAS=0.3817;ExAC_FIN=0.2380;ExAC_NFE=0.2197;ExAC_OTH=0.2815;ExAC_SAS=0.3639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,56:116:99:1509,0,1476 1 12183174 rs4846096 A C 400.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.838;DP=25;ExcessHet=3.0103;FS=10.458;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.877;SOR=0.053;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417814.3,ENST00000263932.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2165\x3bName\x3e"22847:AluSz(SINE)";avsnp150=rs4846096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.408;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.7378;1000g2015aug_all=0.682508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:429,0,350 1 12198179 rs671106 G A 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.613;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3,ENST00000413146.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs671106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.4899;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:319,0,360 1 12198635 rs6419481 T C 1521.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF8;Func=intronic;Gene=NM_001243,NM_001281430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263932.6,ENST00000417814.3,ENST00000413146.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6419481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.6755;1000g2015aug_amr=0.6844;1000g2015aug_all=0.722843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1550,144,0 1 12242949 rs17879121 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17879121;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.1256;1000g2015aug_amr=0.1196;1000g2015aug_all=0.184305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 12248425 rs500734 T A 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=1.645;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6,ENST00000536782.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"22988:L2c(LINE)";avsnp150=rs500734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.134;1000g2015aug_all=0.197883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:64,0,34 1 12248942 rs945439 A G 922.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.655;DP=74;ExcessHet=3.0103;FS=0.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.309;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=exonic;Gene=NM_001066;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K;Gencode=Name\x3eENST00000376259.6,ENST00000536782.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.134;1000g2015aug_all=0.199281;esp6500siv2_all=0.2351;ExAC_ALL=0.2248;ExAC_AFR=0.2171;ExAC_AMR=0.1198;ExAC_EAS=0.1608;ExAC_FIN=0.2043;ExAC_NFE=0.2454;ExAC_OTH=0.2283;ExAC_SAS=0.2622;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,38:74:99:951,0,940 1 12248965 rs945438 A G 829.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.215;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.323;SOR=0.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.134;1000g2015aug_all=0.198682;esp6500siv2_all=0.2324;ExAC_ALL=0.2239;ExAC_AFR=0.2128;ExAC_AMR=0.1196;ExAC_EAS=0.1597;ExAC_FIN=0.2041;ExAC_NFE=0.2444;ExAC_OTH=0.2293;ExAC_SAS=0.2635;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,35:65:99:858,0,678 1 12249020 rs1815530 C T 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.256;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.755;SOR=0.764;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6,ENST00000536782.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1815530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.1326;1000g2015aug_all=0.189497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,16:38:99:416,0,633 1 12249031 rs1201157 A G 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.159;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.162;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6,ENST00000536782.2;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1201157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.652;1000g2015aug_amr=0.438;1000g2015aug_all=0.611422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:361,0,616 1 12250888 rs5746014 T C 983.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.283;DP=55;ExcessHet=3.0103;FS=3.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.455;SOR=1.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5746014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,29:55:99:1012,0,784 1 12250979 rs5746016 C T 1361.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=137;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.294;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5746016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0378;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0277556;esp6500siv2_all=0.0422;ExAC_ALL=0.0450;ExAC_AFR=0.0245;ExAC_AMR=0.0214;ExAC_EAS=0.0007;ExAC_FIN=0.0816;ExAC_NFE=0.0576;ExAC_OTH=0.0420;ExAC_SAS=0.0316;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,56:137:99:1390,0,2174 1 12251191 rs472093 T A 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.238;DP=76;ExcessHet=3.0103;FS=6.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.493;SOR=0.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs472093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.174;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.0937;1000g2015aug_all=0.136182;esp6500siv2_all=0.1548;ExAC_ALL=0.1713;ExAC_AFR=0.0845;ExAC_AMR=0.0974;ExAC_EAS=0.1405;ExAC_FIN=0.1547;ExAC_NFE=0.1893;ExAC_OTH=0.1941;ExAC_SAS=0.2289;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,33:73:99:837,0,970 1 12251765 rs498906 T G 710.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.223;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.772;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs498906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.1762;1000g2015aug_amr=0.1268;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=0.2976;ExAC_AFR=0.2461;ExAC_AMR=0.1851;ExAC_EAS=0.225;ExAC_FIN=0.3397;ExAC_NFE=0.3177;ExAC_OTH=0.3014;ExAC_SAS=0.3262;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,28:64:99:739,0,978 1 12251808 rs653667 T G 1046.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.098;DP=89;ExcessHet=3.0103;FS=4.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.421;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR4632,TNFRSF1B;Func=ncRNA_exonic;Gene=NR_039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536782.2,ENST00000376259.6,ENST00000584158.1;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs653667;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3581;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.2089;1000g2015aug_all=0.303714;esp6500siv2_all=0.3268;ExAC_ALL=0.3616;ExAC_AFR=0.2736;ExAC_AMR=0.2138;ExAC_EAS=0.3719;ExAC_FIN=0.4046;ExAC_NFE=0.3877;ExAC_OTH=0.3851;ExAC_SAS=0.3860;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,46:89:99:1075,0,1125 1 12252892 rs1768642 C T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.184;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.321;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.1254;1000g2015aug_all=0.190895;esp6500siv2_all=0.2172;ExAC_ALL=0.2406;ExAC_AFR=0.2001;ExAC_AMR=0.1322;ExAC_EAS=0.1749;ExAC_FIN=0.2663;ExAC_NFE=0.2604;ExAC_OTH=0.2522;ExAC_SAS=0.2796;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:249,0,361 1 12252955 rs1061622 T G 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.064;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-1.987;SOR=0.668;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=exonic;Gene=NM_001066;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.1268;1000g2015aug_all=0.194688;esp6500siv2_all=0.2305;ExAC_ALL=0.2249;ExAC_AFR=0.2049;ExAC_AMR=0.1171;ExAC_EAS=0.1575;ExAC_FIN=0.2408;ExAC_NFE=0.2447;ExAC_OTH=0.2337;ExAC_SAS=0.2613;SIFT_score=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.217;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.3;MutationAssessor_pred=N;FATHMM_score=0.18;FATHMM_pred=T;phyloP100way_vertebrate=-1.605;phyloP20way_mammalian=-0.265;SiPhy_29way_logOdds=7.083;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:558,0,383 1 12253351 rs636964 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1868\x3bName\x3e"22998:AluJr(SINE)";avsnp150=rs636964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.0937;1000g2015aug_all=0.160743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:31:75,0,31 1 12254201 rs2275416 G A 480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.791;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.202;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e259\x3bName\x3e"23000:L2b(LINE)";avsnp150=rs2275416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.1052;1000g2015aug_all=0.138978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:509,0,592 1 12266601 rs143655312 G A 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.711;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.541;SOR=0.301;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e522\x3bName\x3e"23041:MIRc(SINE)";avsnp150=rs143655312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0378;1000g2015aug_afr=.;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0127796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:254,0,276 1 12266612 rs5746062 A G 369.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.813;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-2.207;SOR=0.509;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=intronic;Gene=NM_001066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e522\x3bName\x3e"23041:MIRc(SINE)";avsnp150=rs5746062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.329;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.1571;1000g2015aug_all=0.177915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,12:21:99:398,0,267 1 12267265 rs1061624 A G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=-1.068;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNFRSF1B;Func=UTR3;Gene=NM_001066;GeneDetail=NM_001066:c.*188A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376259.6;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.3026;1000g2015aug_amr=0.5562;1000g2015aug_all=0.45647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:63:63,0,156 1 12339619 rs4845898 A T 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.53;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.463;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVPS13D;Func=exonic;Gene=NM_015378,NM_018156;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=VPS13D:NM_015378:exon20:c.A4514T:p.E1505V,VPS13D:NM_018156:exon20:c.A4514T:p.E1505V;Gencode=Name\x3eENST00000613099.4,ENST00000620676.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.2118;1000g2015aug_all=0.161142;esp6500siv2_all=0.1661;ExAC_ALL=0.2162;ExAC_AFR=0.0396;ExAC_AMR=0.2202;ExAC_EAS=0.1887;ExAC_FIN=0.2808;ExAC_NFE=0.2380;ExAC_OTH=0.2445;ExAC_SAS=0.2233;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.925;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.491;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.454;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=4.751;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=16.542;gerp++gt2=6.02;CADD=4.575;CADD_Phred=24.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:263,0,290 1 12401868 rs28551666 A C 3842.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=1.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVPS13D;Func=exonic;Gene=NM_015378,NM_018156;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P;Gencode=Name\x3eENST00000620676.4,ENST00000613099.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28551666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.7579;1000g2015aug_all=0.796725;esp6500siv2_all=0.7886;ExAC_ALL=0.7910;ExAC_AFR=0.7549;ExAC_AMR=0.6982;ExAC_EAS=0.9027;ExAC_FIN=0.7486;ExAC_NFE=0.8004;ExAC_OTH=0.7985;ExAC_SAS=0.7992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3871,342,0 1 12434029 rs78224706 A C 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.355;DP=39;ExcessHet=3.0103;FS=1.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.343;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVPS13D;Func=intronic;Gene=NM_015378,NM_018156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613099.4,ENST00000620676.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78224706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0318;1000g2015aug_afr=.;1000g2015aug_amr=0.0216;1000g2015aug_all=0.00978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,26:39:99:690,0,282 1 12515907 rs116038307 G A 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-1.026;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVPS13D;Func=intronic;Gene=NM_015378,NM_018156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613099.4,ENST00000620676.4;cytoBand=1p36.22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1943\x3bName\x3e"23545:AluSz(SINE)";avsnp150=rs116038307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0139;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0103834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 12608240 rs11589918 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015378,NM_004753;GeneDetail=dist\x3e36160\x3bdist\x3e19704;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.1052;1000g2015aug_all=0.11222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 12620529 rs6541034 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015378,NM_004753;GeneDetail=dist\x3e48453\x3bdist\x3e7411;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.1268;1000g2015aug_all=0.211262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 12620545 rs6541035 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015378,NM_004753;GeneDetail=dist\x3e48469\x3bdist\x3e7395;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.1239;1000g2015aug_all=0.199281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 12628188 rs4580 T C 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.784;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0.62;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=UTR3;Gene=NM_001319225,NM_001324370,NM_004753;GeneDetail=NM_001319225:c.*181A>G\x3bNM_001324370:c.*181A>G\x3bNM_004753:c.*181A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3631;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.339;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2017;1000g2015aug_all=0.304313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:402,0,242 1 12628471 rs4072868 A C 1094.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.856;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.403;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=intronic;Gene=NM_001319225,NM_001324370,NM_004753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4072868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.098;1000g2015aug_all=0.110224;esp6500siv2_all=0.1827;ExAC_ALL=0.1892;ExAC_AFR=0.0601;ExAC_AMR=0.0996;ExAC_EAS=0.0168;ExAC_FIN=0.2312;ExAC_NFE=0.2370;ExAC_OTH=0.2009;ExAC_SAS=0.2133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,43:102:99:1123,0,1457 1 12632992 rs4846122 A G 1068.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.594;DP=91;ExcessHet=3.0103;FS=4.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.095;SOR=0.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=intronic;Gene=NM_001319225,NM_001324370,NM_004753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0807;1000g2015aug_all=0.0832668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,45:91:99:1097,0,1261 1 12639105 rs61776830 C T 1526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.19;DP=89;ExcessHet=3.0103;FS=1.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.008;SOR=0.489;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=intronic;Gene=NM_001319225,NM_001324370,NM_004753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.0129;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,51:89:99:1555,0,1103 1 12639226 rs61776831 C T 1244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.268;DP=88;ExcessHet=3.0103;FS=1.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.372;SOR=0.491;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=intronic;Gene=NM_001319225,NM_001324370,NM_004753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.0807;1000g2015aug_all=0.076278;esp6500siv2_all=.;ExAC_ALL=0.2147;ExAC_AFR=0.0836;ExAC_AMR=0.1212;ExAC_EAS=0.0020;ExAC_FIN=0.2133;ExAC_NFE=0.2751;ExAC_OTH=0.2291;ExAC_SAS=0.1655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,42:88:99:1273,0,1437 1 12640650 rs11540058 C T 987.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.325;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.946;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHRS3;Func=exonic;Gene=NM_004753;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DHRS3:NM_004753:exon2:c.G240A:p.T80T;Gencode=Name\x3eENST00000616661.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11540058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0796725;esp6500siv2_all=0.1595;ExAC_ALL=0.1471;ExAC_AFR=0.0633;ExAC_AMR=0.0607;ExAC_EAS=0.0010;ExAC_FIN=0.1384;ExAC_NFE=0.1993;ExAC_OTH=0.1630;ExAC_SAS=0.1288;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,36:70:99:1016,0,969 1 12683102 rs3000894 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004753,NM_001013630;GeneDetail=dist\x3e5365\x3bdist\x3e21451;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3000894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.954;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.8213;1000g2015aug_all=0.873003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 12886938 rs2743672 T G 123.85 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.16;MQRankSum=1.282;QD=24.77;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF11;Func=intronic;Gene=NM_001146344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619922.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.955373\x3bName\x3echr1:13166716;Repeat=.;avsnp150=rs2743672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.3516;1000g2015aug_all=0.364417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:17:152,0,17 1 12888207 rs2637934 G C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.49;MQRankSum=1.645;QD=8.15;ReadPosRankSum=1.645;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF11;Func=intronic;Gene=NM_001146344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619922.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.955373\x3bName\x3echr1:13166716;Repeat=.;avsnp150=rs2637934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.353;1000g2015aug_all=0.351837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,73 1 12898484 rs147900704 G A 579.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.063;DP=63;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-1.338;SOR=0.296;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146344,NM_001013631;GeneDetail=dist\x3e7221\x3bdist\x3e8746;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.946442\x3bName\x3echr1:13301073;Repeat=.;avsnp150=rs147900704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0159;1000g2015aug_all=0.00978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,24:63:99:608,0,1270 1 12898775 rs4307581 C G 886.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.508;DP=67;ExcessHet=3.0103;FS=6.055;MLEAC=1;MLEAF=0.5;MQ=48.51;MQRankSum=-6.971;QD=13.24;ReadPosRankSum=0.48;SOR=1.652;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146344,NM_001013631;GeneDetail=dist\x3e7512\x3bdist\x3e8455;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.946442\x3bName\x3echr1:13301073;Repeat=.;avsnp150=rs4307581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.5403;1000g2015aug_all=0.683307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,25:67:99:915,0,2215 1 12898778 rs4323722 T A 893.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.59;DP=66;ExcessHet=3.0103;FS=5.996;MLEAC=1;MLEAF=0.5;MQ=48.45;MQRankSum=-6.884;QD=13.54;ReadPosRankSum=0.627;SOR=1.577;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146344,NM_001013631;GeneDetail=dist\x3e7515\x3bdist\x3e8452;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.946442\x3bName\x3echr1:13301073;Repeat=.;avsnp150=rs4323722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.5303;1000g2015aug_all=0.678315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,24:66:99:922,0,2213 1 12898810 rs61775388 T C 459.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.437;DP=44;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=44.97;MQRankSum=-5.862;QD=10.45;ReadPosRankSum=-1.003;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146344,NM_001013631;GeneDetail=dist\x3e7547\x3bdist\x3e8420;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.946442\x3bName\x3echr1:13301073;Repeat=.;avsnp150=rs61775388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.3473;1000g2015aug_all=0.366414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:488,0,776 1 12900004 rs140491439 A G 172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.93;MQRankSum=-0.252;QD=13.29;ReadPosRankSum=0.484;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146344,NM_001013631;GeneDetail=dist\x3e8741\x3bdist\x3e7226;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.979608\x3bName\x3echr1:13104252;Repeat=.;avsnp150=rs140491439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0173;1000g2015aug_all=0.00838658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:201,0,231 1 12940016 rs55642883 C A 100.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.555;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.57;MQRankSum=-2.659;QD=5.04;ReadPosRankSum=2.767;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF4;Func=intronic;Gene=NM_001009611;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235349.5,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs55642883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,6:20:99:129,0,494 1 12943277 rs115845904 G A 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.367;DP=15;ExcessHet=3.0103;FS=2.059;MLEAC=1;MLEAF=0.5;MQ=58.09;MQRankSum=1.465;QD=15.65;ReadPosRankSum=-0.057;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF4;Func=intronic;Gene=NM_001009611;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235349.5,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs115845904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0217652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:263,0,171 1 12953170 rs200342231 G A 918.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.56;DP=250;ExcessHet=3.0103;FS=1.926;MLEAC=1;MLEAF=0.5;MQ=56.96;MQRankSum=1.707;QD=3.68;ReadPosRankSum=0.035;SOR=0.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF10;Func=exonic;Gene=NM_001039361;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRAMEF10:NM_001039361:exon4:c.C1002T:p.T334T;Gencode=Name\x3eENST00000235347.4,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs200342231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=.;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=.;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:197,53:250:99:947,0,7222 1 12953256 rs848424 T C 324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.324;DP=126;ExcessHet=3.0103;FS=2.518;MLEAC=1;MLEAF=0.5;MQ=51.45;MQRankSum=-6.522;QD=2.58;ReadPosRankSum=0.215;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF10;Func=exonic;Gene=NM_001039361;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF10:NM_001039361:exon4:c.A916G:p.T306A;Gencode=Name\x3eENST00000235347.4,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs848424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.1842;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.1842;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.362;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.986;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.68;FATHMM_pred=T;phyloP100way_vertebrate=-2.353;phyloP20way_mammalian=-4.679;SiPhy_29way_logOdds=2.149;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,19:126:99:353,0,3337 1 12953268 rs61780549 C G 434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.038;DP=113;ExcessHet=3.0103;FS=1.008;MLEAC=1;MLEAF=0.5;MQ=50.94;MQRankSum=0.918;QD=3.85;ReadPosRankSum=0.56;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF10;Func=exonic;Gene=NM_001039361;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF10:NM_001039361:exon4:c.G904C:p.D302H;Gencode=Name\x3eENST00000235347.4,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs61780549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.326;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.269;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.45;MutationAssessor_pred=N;FATHMM_score=0.95;FATHMM_pred=T;phyloP100way_vertebrate=-6.179;phyloP20way_mammalian=-5.419;SiPhy_29way_logOdds=3.534;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,23:113:99:463,0,2766 1 12953303 rs4661498 T C 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.796;DP=70;ExcessHet=3.0103;FS=3.541;MLEAC=1;MLEAF=0.5;MQ=43.94;MQRankSum=-0.381;QD=3.85;ReadPosRankSum=-0.308;SOR=1.304;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF10;Func=exonic;Gene=NM_001039361;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF10:NM_001039361:exon4:c.A869G:p.Y290C;Gencode=Name\x3eENST00000235347.4,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs4661498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.014;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.93;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;phyloP100way_vertebrate=-0.819;phyloP20way_mammalian=-2.648;SiPhy_29way_logOdds=6.672;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,14:70:99:298,0,1749 1 12954987 rs3121398 T A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.284;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.42;MQRankSum=-3.683;QD=9.34;ReadPosRankSum=0.443;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF10;Func=exonic;Gene=NM_001039361;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF10:NM_001039361:exon3:c.A296T:p.K99I;Gencode=Name\x3eENST00000235347.4,ENST00000617044.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:13247407;Repeat=.;avsnp150=rs3121398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=1.043e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.857e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_pred=D;LRT_score=0.094;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=3.525;MutationAssessor_pred=H;FATHMM_score=3.47;FATHMM_pred=T;phyloP100way_vertebrate=1.384;phyloP20way_mammalian=0.594;SiPhy_29way_logOdds=6.015;gerp++gt2=.;CADD=3.758;CADD_Phred=23.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:458,0,696 1 13183249 rs139566100 C A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.901;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.74;MQRankSum=1.96;QD=13.83;ReadPosRankSum=0.517;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHNRNPCL2;Func=exonic;Gene=NM_001136561;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HNRNPCL2:NM_001136561:exon2:c.G624T:p.Q208H;Gencode=Name\x3eENST00000621259.4,ENST00000622351.1,ENST00000621994.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.923536\x3bName\x3echr2:189923169;Repeat=.;avsnp150=rs139566100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0119808;esp6500siv2_all=.;ExAC_ALL=0.4969;ExAC_AFR=0.4884;ExAC_AMR=0.4998;ExAC_EAS=0.4978;ExAC_FIN=0.5;ExAC_NFE=0.4963;ExAC_OTH=0.4989;ExAC_SAS=0.5002;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.686;phyloP20way_mammalian=0.217;SiPhy_29way_logOdds=4.762;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,12:25:99:374,0,378 1 13141825 rs867739963 C G 853.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.321;DP=41;ExcessHet=3.0103;FS=10.025;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.445;SOR=0.063;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF18,PRAMEF22;Func=intronic;Gene=NM_001099850,NM_001100631;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624297.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=Score\x3e203\x3bName\x3e"24934:L2b(LINE)";avsnp150=rs867739963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,22:41:99:882,0,1290 1 13141643 rs61780079 A T 1818.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.154;DP=153;ExcessHet=3.0103;FS=6.087;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.786;SOR=1.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF22,PRAMEF18;Func=exonic;Gene=NM_001099850,NM_001100631;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF18:NM_001099850:exon2:c.A802T:p.N268Y,PRAMEF22:NM_001100631:exon2:c.A805T:p.N269Y;Gencode=Name\x3eENST00000624297.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=rs61780079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.1697;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.0749;1000g2015aug_all=0.133187;esp6500siv2_all=.;ExAC_ALL=0.8;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=0.5;ExAC_FIN=.;ExAC_NFE=0.875;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.673;phyloP20way_mammalian=-1.037;SiPhy_29way_logOdds=2.551;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,70:153:99:1847,0,2311 1 13139267 rs28609618 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e1132\x3bdist\x3e26912;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=rs28609618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 13139229 rs879026362 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.89;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e1170\x3bdist\x3e26874;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=Score\x3e1209\x3bName\x3e"24937:AluJr(SINE)";avsnp150=rs879026362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 13135706 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.27;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e4683\x3bdist\x3e23361;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 13135705 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.27;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e4684\x3bdist\x3e23360;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 13133022 rs28369232 A G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e7355\x3bdist\x3e20689;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=Score\x3e2150\x3bName\x3e"24953:AluSx1(SINE)";avsnp150=rs28369232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 13015750 . G A 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.988;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.716;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e19714\x3bdist\x3e8330;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:224,0,474 1 13014859 rs1815632 A G 1566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.435;DP=124;ExcessHet=3.0103;FS=1.449;MLEAC=1;MLEAF=0.5;MQ=59.98;MQRankSum=-1.086;QD=12.64;ReadPosRankSum=-0.023;SOR=0.885;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099850,NM_001013407;GeneDetail=dist\x3e20605\x3bdist\x3e7439;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13315267;Repeat=.;avsnp150=rs1815632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,56:124:99:1595,0,1840 1 13111821 rs368445657 C G 1392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.75;MQRankSum=2.19;QD=20.19;ReadPosRankSum=0.013;SOR=0.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF5;Func=intronic;Gene=NM_001013407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622421.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:12855323;Repeat=.;avsnp150=rs368445657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.0014;1000g2015aug_all=0.0165735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,45:69:99:1421,0,682 1 13111797 . G T 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.325;DP=89;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=42.95;MQRankSum=-2.432;QD=8.77;ReadPosRankSum=-0.672;SOR=1.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF5;Func=intronic;Gene=NM_001013407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622421.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:12855323;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,31:89:99:809,0,1632 1 13427206 rs9429276 A T 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.352;DP=16;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=42;MQRankSum=-3.164;QD=9.65;ReadPosRankSum=-0.225;SOR=2.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF15;Func=intronic;Gene=NM_001098376;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613530.4,ENST00000376152.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.990208\x3bName\x3echr1:12855323;Repeat=.;avsnp150=rs9429276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:173,0,209 1 13695704 . T C 2040.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=150;ExcessHet=3.0103;FS=18.982;MLEAC=1;MLEAF=0.5;MQ=54.12;MQRankSum=-8.567;QD=13.61;ReadPosRankSum=2.774;SOR=2.039;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.A1261G:p.N421D;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.146;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.32;MutationAssessor_pred=N;FATHMM_score=3.16;FATHMM_pred=T;phyloP100way_vertebrate=-2.948;phyloP20way_mammalian=-1.510;SiPhy_29way_logOdds=0.071;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,55:150:99:2069,0,5785 1 13695705 . G A 2040.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.457;DP=153;ExcessHet=3.0103;FS=18.366;MLEAC=1;MLEAF=0.5;MQ=53.88;MQRankSum=-8.766;QD=13.34;ReadPosRankSum=2.572;SOR=1.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.C1260T:p.D420D;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:96,57:153:99:2069,0,5785 1 13695816 rs12123444 G A 1551.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.423;DP=209;ExcessHet=3.0103;FS=12.072;MLEAC=1;MLEAF=0.5;MQ=52.2;MQRankSum=-13.771;QD=7.42;ReadPosRankSum=1.32;SOR=0.93;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.C1149T:p.C383C;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=rs12123444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0003;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0.0015;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=0.0004;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:135,74:209:99:1580,0,3881 1 13695842 rs780798639 G A 1597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.344;DP=212;ExcessHet=3.0103;FS=29.953;MLEAC=1;MLEAF=0.5;MQ=51.65;MQRankSum=-13.508;QD=7.54;ReadPosRankSum=-0.067;SOR=1.641;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.C1123T:p.R375C;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=rs780798639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=3.306e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;SIFT_score=0.152;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.678;LRT_pred=N;MutationTaster_score=0.996;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=2.97;FATHMM_pred=T;phyloP100way_vertebrate=1.348;phyloP20way_mammalian=-0.298;SiPhy_29way_logOdds=3.005;gerp++gt2=.;CADD=1.968;CADD_Phred=16.01;ALLELE_END GT:AD:DP:GQ:PL 0/1:136,76:212:99:1626,0,3913 1 13695879 . C A 1391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.658;DP=206;ExcessHet=3.0103;FS=13.308;MLEAC=1;MLEAF=0.5;MQ=53.08;MQRankSum=5.17;QD=6.76;ReadPosRankSum=-0.639;SOR=0.854;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.G1086T:p.G362G;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0219649;esp6500siv2_all=0.0419;ExAC_ALL=0.0431;ExAC_AFR=0.0098;ExAC_AMR=0.0155;ExAC_EAS=0.0008;ExAC_FIN=0.0402;ExAC_NFE=0.0596;ExAC_OTH=0.0485;ExAC_SAS=0.0390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:147,59:206:99:1420,0,5136 1 13695881 . C G 1216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.683;DP=206;ExcessHet=3.0103;FS=33.828;MLEAC=1;MLEAF=0.5;MQ=53.17;MQRankSum=-13.124;QD=5.91;ReadPosRankSum=0.195;SOR=1.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRAMEF19;Func=exonic;Gene=NM_001099790;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRAMEF19:NM_001099790:exon3:c.G1084C:p.G362R;Gencode=Name\x3eENST00000376101.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.982481\x3bName\x3echr1:13004384;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.679;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.295;MutationAssessor_pred=N;FATHMM_score=0.47;FATHMM_pred=T;phyloP100way_vertebrate=-2.031;phyloP20way_mammalian=-2.559;SiPhy_29way_logOdds=2.029;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:144,62:206:99:1245,0,4977 1 13486545 rs2008000 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001099790,NM_001099851;GeneDetail=dist\x3e8968\x3bdist\x3e8717;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.97426\x3bName\x3echr1:13172136;Repeat=Score\x3e2233\x3bName\x3e"25227:AluSx1(SINE)";avsnp150=rs2008000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 13833798 rs2990675 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC38;Func=intronic;Gene=NM_001010847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376085.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2990675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.5;1000g2015aug_eur=0.67;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.4683;1000g2015aug_all=0.553514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 13910417 rs355025 C T 1944.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.13;DP=138;ExcessHet=3.0103;FS=3.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.01;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDPN;Func=exonic;Gene=NM_006474,NM_198389;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PDPN:NM_006474:exon1:c.C117T:p.P39P,PDPN:NM_198389:exon1:c.C117T:p.P39P;Gencode=Name\x3eENST00000294489.10,ENST00000510906.5,ENST00000617617.4,ENST00000621990.4,ENST00000376057.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs355025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.329;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.4798;1000g2015aug_all=0.563099;esp6500siv2_all=0.4057;ExAC_ALL=0.4473;ExAC_AFR=0.5739;ExAC_AMR=0.5465;ExAC_EAS=0.7028;ExAC_FIN=0.3845;ExAC_NFE=0.3354;ExAC_OTH=0.4302;ExAC_SAS=0.6368;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,66:138:99:1973,0,1997 1 13933855 rs35870640 A G 2383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.197;DP=168;ExcessHet=3.0103;FS=6.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.294;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDPN;Func=intronic;Gene=NM_001006624,NM_001006625,NM_006474,NM_198389;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294489.10,ENST00000376061.8,ENST00000487038.5,ENST00000513143.5,ENST00000475043.5,ENST00000509009.5,ENST00000617617.4,ENST00000510906.5,ENST00000621990.4,ENST00000376057.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35870640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.338;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.4597;1000g2015aug_all=0.222444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,81:166:99:2412,0,2279 1 13936822 rs404658 G T 242.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=36;ExcessHet=3.0103;FS=1.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.184;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDPN;Func=intronic;Gene=NM_001006624,NM_001006625,NM_006474,NM_198389;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376061.8,ENST00000294489.10,ENST00000475043.5,ENST00000513143.5,ENST00000487038.5,ENST00000376057.8,ENST00000621990.4,ENST00000617617.4,ENST00000509009.5,ENST00000510906.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs404658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.7556;1000g2015aug_eur=0.672;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.8026;1000g2015aug_all=0.677915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,10:36:99:271,0,803 1 13937089 rs2487643 G T 787.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.635;DP=56;ExcessHet=3.0103;FS=2.418;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.147;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDPN;Func=intronic;Gene=NM_001006624,NM_001006625,NM_006474,NM_198389;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621990.4,ENST00000510906.5,ENST00000509009.5,ENST00000617617.4,ENST00000376057.8,ENST00000513143.5,ENST00000487038.5,ENST00000475043.5,ENST00000294489.10,ENST00000376061.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2487643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.7076;1000g2015aug_eur=0.671;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.8026;1000g2015aug_all=0.661741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,28:56:99:816,0,906 1 13940864 rs2486188 C G 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.373;DP=100;ExcessHet=3.0103;FS=2.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.149;SOR=0.691;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDPN;Func=exonic;Gene=NM_001006624,NM_001006625,NM_006474,NM_198389;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PDPN:NM_001006624:exon5:c.C314G:p.A105G,PDPN:NM_001006625:exon5:c.C314G:p.A105G,PDPN:NM_006474:exon5:c.C668G:p.A223G,PDPN:NM_198389:exon5:c.C668G:p.A223G;Gencode=Name\x3eENST00000376061.8,ENST00000294489.10,ENST00000475043.5,ENST00000513143.5,ENST00000487038.5,ENST00000376057.8,ENST00000621990.4,ENST00000617617.4,ENST00000509009.5,ENST00000510906.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9885;1000g2015aug_all=0.98143;esp6500siv2_all=0.9669;ExAC_ALL=0.9552;ExAC_AFR=0.9929;ExAC_AMR=0.9891;ExAC_EAS=0.9999;ExAC_FIN=0.8669;ExAC_NFE=0.9386;ExAC_OTH=0.9482;ExAC_SAS=0.9872;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=2.71;FATHMM_pred=T;phyloP100way_vertebrate=0.775;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=13.370;gerp++gt2=5.93;CADD=1.587;CADD_Phred=13.78;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,45:100:99:1093,0,1533 1 13946868 rs1767676 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006474,NM_001135610;GeneDetail=dist\x3e2416\x3bdist\x3e79867;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1767676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.341;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.4597;1000g2015aug_all=0.252196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 14096457 rs2235523 T A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.006;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001007257,NM_001135610,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000505823.5,ENST00000235372.11,ENST00000503842.5,ENST00000343137.8,ENST00000413440.5,ENST00000311066.9,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e988\x3bName\x3e"26156:MER20(DNA)";avsnp150=rs2235523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3978;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.5533;1000g2015aug_all=0.373003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 14096635 rs2884788 A T 1026.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.978;DP=76;ExcessHet=3.0103;FS=1.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-2.589;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001007257,NM_001135610,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311066.9,ENST00000413440.5,ENST00000376048.9,ENST00000343137.8,ENST00000505823.5,ENST00000235372.11,ENST00000503842.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2884788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2824;1000g2015aug_all=0.135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,39:76:99:1055,0,1015 1 14099763 rs10803426 C T 386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.357;DP=40;ExcessHet=3.0103;FS=3.03;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.844;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001007257,NM_001135610,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000413440.5,ENST00000311066.9,ENST00000376048.9,ENST00000343137.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10803426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.5403;1000g2015aug_all=0.317692;esp6500siv2_all=0.3025;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,18:40:99:415,0,679 1 14099898 rs1203677 A G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001007257,NM_001135610,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000343137.8,ENST00000376048.9,ENST00000413440.5,ENST00000311066.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1203677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.5403;1000g2015aug_all=0.317891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:67:71,0,67 1 14105139 rs2076324 T A 967.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.772;DP=81;ExcessHet=3.0103;FS=5.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.192;SOR=0.274;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=exonic;Gene=NM_001007257,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRDM2:NM_001007257:exon3:c.T246A:p.D82E,PRDM2:NM_012231:exon8:c.T849A:p.D283E,PRDM2:NM_015866:exon8:c.T849A:p.D283E;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000343137.8,ENST00000311066.9,ENST00000413440.5,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32\x3bName\x3e"26169:GA-rich(Low_complexity)";avsnp150=rs2076324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.327;1000g2015aug_afr=0.208;1000g2015aug_amr=0.5375;1000g2015aug_all=0.371206;esp6500siv2_all=0.3206;ExAC_ALL=0.3563;ExAC_AFR=0.2436;ExAC_AMR=0.5484;ExAC_EAS=0.3538;ExAC_FIN=0.3424;ExAC_NFE=0.3308;ExAC_OTH=0.3322;ExAC_SAS=0.4137;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.174;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=4.98;FATHMM_pred=T;phyloP100way_vertebrate=-0.258;phyloP20way_mammalian=-0.363;SiPhy_29way_logOdds=3.302;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,38:71:99:996,0,954 1 14105298 rs1203678 G A 1066.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.586;DP=77;ExcessHet=3.0103;FS=3.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.563;SOR=0.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=exonic;Gene=NM_001007257,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRDM2:NM_001007257:exon3:c.G405A:p.E135E,PRDM2:NM_012231:exon8:c.G1008A:p.E336E,PRDM2:NM_015866:exon8:c.G1008A:p.E336E;Gencode=Name\x3eENST00000505823.5,ENST00000235372.11,ENST00000503842.5,ENST00000343137.8,ENST00000376048.9,ENST00000311066.9,ENST00000413440.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1203678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.5389;1000g2015aug_all=0.316294;esp6500siv2_all=0.3104;ExAC_ALL=0.3560;ExAC_AFR=0.2471;ExAC_AMR=0.6248;ExAC_EAS=0.3673;ExAC_FIN=0.3546;ExAC_NFE=0.3432;ExAC_OTH=0.3429;ExAC_SAS=0.2831;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,42:77:99:1095,0,963 1 14109114 rs1203651 A G 855.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.047;DP=65;ExcessHet=3.0103;FS=0.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=exonic;Gene=NM_001007257,NM_012231,NM_015866;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRDM2:NM_001007257:exon3:c.A4221G:p.S1407S,PRDM2:NM_012231:exon8:c.A4824G:p.S1608S,PRDM2:NM_015866:exon8:c.A4824G:p.S1608S;Gencode=Name\x3eENST00000505823.5,ENST00000235372.11,ENST00000503842.5,ENST00000311066.9,ENST00000413440.5,ENST00000376048.9,ENST00000343137.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1203651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.328;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.5418;1000g2015aug_all=0.365016;esp6500siv2_all=0.3308;ExAC_ALL=0.3881;ExAC_AFR=0.2704;ExAC_AMR=0.6302;ExAC_EAS=0.3830;ExAC_FIN=0.3647;ExAC_NFE=0.3631;ExAC_OTH=0.3684;ExAC_SAS=0.4059;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,30:65:99:884,0,913 1 14138493 rs2744688 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000505823.5,ENST00000235372.11,ENST00000503842.5,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e231\x3bName\x3e"26222:L2c(LINE)";avsnp150=rs2744688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.8631;1000g2015aug_all=0.827676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 14143003 rs1046331 A G 4566.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=exonic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRDM2:NM_001135610:exon7:c.A593G:p.Q198R;Gencode=Name\x3eENST00000376048.9,ENST00000503842.5,ENST00000235372.11,ENST00000505823.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.727;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.8573;1000g2015aug_all=0.821286;esp6500siv2_all=0.8744;ExAC_ALL=0.8256;ExAC_AFR=0.9304;ExAC_AMR=0.8019;ExAC_EAS=0.7162;ExAC_FIN=0.8166;ExAC_NFE=0.8451;ExAC_OTH=0.8381;ExAC_SAS=0.7571;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.56;FATHMM_pred=T;phyloP100way_vertebrate=-1.752;phyloP20way_mammalian=-0.876;SiPhy_29way_logOdds=7.200;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,148:148:99:4595,444,0 1 14149396 rs2744681 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1174\x3bName\x3e"26249:L1ME3A(LINE)";avsnp150=rs2744681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.7752;1000g2015aug_all=0.723243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 14149505 rs2697970 C A 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376048.9,ENST00000505823.5,ENST00000235372.11,ENST00000503842.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1174\x3bName\x3e"26249:L1ME3A(LINE)";avsnp150=rs2697970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.7723;1000g2015aug_all=0.714257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 14149601 rs2697969 C T 989.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376048.9,ENST00000503842.5,ENST00000235372.11,ENST00000505823.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2697969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.7723;1000g2015aug_all=0.714257;esp6500siv2_all=0.7459;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1018,93,0 1 14149622 rs2697968 T C 1060.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=intronic;Gene=NM_001135610,NM_012231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2697968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.7723;1000g2015aug_all=0.714657;esp6500siv2_all=0.7514;ExAC_ALL=0.7510;ExAC_AFR=0.7370;ExAC_AMR=0.7514;ExAC_EAS=0.6371;ExAC_FIN=0.7667;ExAC_NFE=0.7736;ExAC_OTH=0.7772;ExAC_SAS=0.7156;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1089,102,0 1 14149844 rs1046333 T A 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDM2;Func=UTR3;Gene=NM_001135610,NM_012231;GeneDetail=NM_001135610:c.*165T>A\x3bNM_012231:c.*214T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503842.5,ENST00000235372.11,ENST00000505823.5,ENST00000376048.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 14182714 rs1989422 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e31140\x3bdist\x3e742498;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11602\x3bName\x3e"26316:THE1D-int(LTR)";avsnp150=rs1989422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.7536;1000g2015aug_all=0.798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 14220186 rs1358577 A G 594.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.575;DP=51;ExcessHet=3.0103;FS=4.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.36;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e68612\x3bdist\x3e705026;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1358577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.357;1000g2015aug_amr=0.5778;1000g2015aug_all=0.315695;esp6500siv2_all=.;ExAC_ALL=0.3075;ExAC_AFR=0.3458;ExAC_AMR=0.4760;ExAC_EAS=0.1193;ExAC_FIN=0.4222;ExAC_NFE=0.3277;ExAC_OTH=0.2887;ExAC_SAS=0.2769;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,21:51:99:623,0,740 1 14507057 rs10928050 A G 2728.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e355483\x3bdist\x3e418155;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10928050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3611;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.1988;1000g2015aug_all=0.163339;esp6500siv2_all=.;ExAC_ALL=0.1373;ExAC_AFR=0.0795;ExAC_AMR=0.1973;ExAC_EAS=0.3776;ExAC_FIN=0.1703;ExAC_NFE=0.1842;ExAC_OTH=0.1776;ExAC_SAS=0.0833;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2757,269,0 1 14777995 rs4463663 G C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e626420\x3bdist\x3e147218;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4463663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.3991;1000g2015aug_all=0.362021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 14799665 rs9429234 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e648090\x3bdist\x3e125548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e758\x3bName\x3e"27636:MER53(DNA)";avsnp150=rs9429234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4286;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.3487;1000g2015aug_all=0.321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 14799752 rs35374050 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.94;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e648177\x3bdist\x3e125461;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e758\x3bName\x3e"27636:MER53(DNA)";avsnp150=rs35374050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.487;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 14871496 rs11580401 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135610,NM_015209;GeneDetail=dist\x3e719921\x3bdist\x3e53717;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8593;1000g2015aug_amr=0.9885;1000g2015aug_all=0.961062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15089014 rs7535493 A G 32.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.45;MQRankSum=-0.431;QD=10.93;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503743.5,ENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2587\x3bName\x3e"28283:AluY(SINE)";avsnp150=rs7535493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.6256;1000g2015aug_amr=0.4395;1000g2015aug_all=0.521565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:61,0,21 1 15089146 rs10927538 G A 36.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.45;QD=12.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2587\x3bName\x3e"28283:AluY(SINE)";avsnp150=rs10927538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2113;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.498;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.3256;1000g2015aug_all=0.321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:64,9,0 1 15147316 rs3820612 A T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.4017;1000g2015aug_amr=0.3415;1000g2015aug_all=0.26238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 15183841 rs4661531 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1846\x3bName\x3e"28511:AluJb(SINE)";avsnp150=rs4661531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.773;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.6441;1000g2015aug_all=0.792332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15220661 rs2807550 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2807550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.798;1000g2015aug_amr=0.9539;1000g2015aug_all=0.896166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15231026 rs2807556 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503743.5,ENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2807556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.8918;1000g2015aug_amr=0.9107;1000g2015aug_all=0.893171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15240917 rs2690028 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2690028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.7767;1000g2015aug_all=0.666534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15347654 rs10927633 G C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503743.5,ENST00000400797.3,ENST00000361144.9,ENST00000400798.6,ENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e219\x3bName\x3e"28921:MIRc(SINE)";avsnp150=rs10927633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.8127;1000g2015aug_all=0.637181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 15362749 rs71631705 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400798.6,ENST00000376030.6,ENST00000400797.3,ENST00000503743.5,ENST00000361144.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e66\x3bName\x3e"28954:(CCCTG)n(Simple_repeat)";avsnp150=rs71631705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15370458 rs41310369 G C 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.905;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.813;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000400798.6,ENST00000361144.9,ENST00000503743.5,ENST00000400797.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41310369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0685;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0597045;esp6500siv2_all=0.0789;ExAC_ALL=0.1062;ExAC_AFR=0.0366;ExAC_AMR=0.0499;ExAC_EAS=0.0833;ExAC_FIN=0.1532;ExAC_NFE=0.1280;ExAC_OTH=0.1009;ExAC_SAS=0.0899;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,21:37:99:595,0,387 1 15370755 rs11808219 G A 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000400798.6,ENST00000361144.9,ENST00000400797.3,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11808219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0675;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1902;1000g2015aug_all=0.187101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 15386628 rs2073091 T C 1581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.415;DP=127;ExcessHet=3.0103;FS=0.689;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.705;SOR=0.598;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000400798.6,ENST00000503743.5,ENST00000400797.3,ENST00000361144.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.17;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.1873;1000g2015aug_all=0.271565;esp6500siv2_all=0.1474;ExAC_ALL=0.2189;ExAC_AFR=0.1259;ExAC_AMR=0.2328;ExAC_EAS=0.6268;ExAC_FIN=0.1759;ExAC_NFE=0.1640;ExAC_OTH=0.2294;ExAC_SAS=0.2923;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,60:127:99:1610,0,1790 1 15389861 rs2076567 A G 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361144.9,ENST00000400797.3,ENST00000503743.5,ENST00000400798.6,ENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.2464;1000g2015aug_all=0.455272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 15389862 rs2076566 A C 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400798.6,ENST00000376030.6,ENST00000361144.9,ENST00000400797.3,ENST00000503743.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.2478;1000g2015aug_all=0.455272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 15390145 rs2076565 A G 1418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=73;ExcessHet=3.0103;FS=4.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=0.837;SOR=1.335;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000503743.5,ENST00000400797.3,ENST00000361144.9,ENST00000376030.6,ENST00000400798.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.2435;1000g2015aug_all=0.460264;esp6500siv2_all=0.3548;ExAC_ALL=0.3136;ExAC_AFR=0.6003;ExAC_AMR=0.2386;ExAC_EAS=0.7035;ExAC_FIN=0.2140;ExAC_NFE=0.2351;ExAC_OTH=0.3031;ExAC_SAS=0.3380;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,40:73:99:1447,0,1600 1 15390178 rs2076564 C T 1185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.515;DP=59;ExcessHet=3.0103;FS=4.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.1;ReadPosRankSum=0.008;SOR=1.452;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6,ENST00000400798.6,ENST00000503743.5,ENST00000400797.3,ENST00000361144.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.2392;1000g2015aug_all=0.432708;esp6500siv2_all=0.3333;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,31:59:99:1214,0,1627 1 15390211 rs2076563 G A 792.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.284;DP=39;ExcessHet=3.0103;FS=5.633;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.33;ReadPosRankSum=-1.167;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_001017999,NM_001018000,NM_001018001,NM_015209,NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400798.6,ENST00000376030.6,ENST00000361144.9,ENST00000503743.5,ENST00000400797.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.2435;1000g2015aug_all=0.4373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,20:39:99:821,0,1151 1 15421655 rs4661576 A G 165.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.2954;1000g2015aug_all=0.508387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:194,18,0 1 15424984 rs1996128 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e374\x3bName\x3e"29107:MamRep434(DNA)";avsnp150=rs1996128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.7176;1000g2015aug_all=0.847444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 15424985 rs1996127 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e374\x3bName\x3e"29107:MamRep434(DNA)";avsnp150=rs1996127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.6196;1000g2015aug_all=0.725639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 15427117 rs532075 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5466;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.3818;1000g2015aug_all=0.31889;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15427801 rs12040354 C T 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e64\x3bName\x3e"29113:(TTCTCT)n(Simple_repeat)";avsnp150=rs12040354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.171;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.2118;1000g2015aug_all=0.210863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 15427934 rs10927676 C T 386.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.5447;1000g2015aug_all=0.50599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:38:415,38,0 1 15427982 rs502918 G A 1230.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=2.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs502918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.6081;1000g2015aug_all=0.598043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1259,110,0 1 15428358 rs477953 T C 1873.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e50\x3bName\x3e"29114:(CATC)n(Simple_repeat)";avsnp150=rs477953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.9467;1000g2015aug_all=0.944089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1902,144,0 1 15428508 rs476859 C T 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs476859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.261;1000g2015aug_amr=0.4885;1000g2015aug_all=0.456869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 15429652 rs555481 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2008\x3bName\x3e"29117:AluSx1(SINE)";avsnp150=rs555481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.9597;1000g2015aug_all=0.97524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 15429696 rs555377 G C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2008\x3bName\x3e"29117:AluSx1(SINE)";avsnp150=rs555377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.6081;1000g2015aug_all=0.553115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 15430933 rs523125 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN;Func=intronic;Gene=NM_201628;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs523125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.59;1000g2015aug_amr=0.7032;1000g2015aug_all=0.683506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15438990 rs10803354 G A 2577.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=1.075;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKAZN,TMEM51-AS1;Func=exonic;Gene=NM_201628;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KAZN:NM_201628:exon14:c.G2116A:p.A706T;Gencode=Name\x3eENST00000376030.6,ENST00000310916.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10803354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.264;1000g2015aug_amr=0.4438;1000g2015aug_all=0.442093;esp6500siv2_all=0.3629;ExAC_ALL=0.4799;ExAC_AFR=0.3171;ExAC_AMR=0.6221;ExAC_EAS=0.6988;ExAC_FIN=0.4808;ExAC_NFE=0.4344;ExAC_OTH=0.4778;ExAC_SAS=0.5336;SIFT_score=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.118;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=2.24;FATHMM_pred=T;phyloP100way_vertebrate=1.583;phyloP20way_mammalian=1.044;SiPhy_29way_logOdds=6.379;gerp++gt2=3.61;CADD=2.285;CADD_Phred=18.07;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2606,252,0 1 15441275 rs1055412 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51-AS1,KAZN;Func=ncRNA_exonic;Gene=NR_027136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310916.6,ENST00000376030.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.6066;1000g2015aug_all=0.602835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 15478066 rs1883759 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51-AS1;Func=ncRNA_intronic;Gene=NR_027136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310916.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.8516;1000g2015aug_all=0.774161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 15480493 rs7530300 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428417.5,ENST00000434578.6,ENST00000376014.7,ENST00000400796.7,ENST00000376008.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.8487;1000g2015aug_all=0.770567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 15480494 rs7553381 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376008.2,ENST00000400796.7,ENST00000434578.6,ENST00000376014.7,ENST00000428417.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.8559;1000g2015aug_all=0.80611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 15481453 rs1006371 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400796.7,ENST00000376008.2,ENST00000428417.5,ENST00000376014.7,ENST00000434578.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.9582;1000g2015aug_all=0.956869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15490865 rs61561984 T A 1200.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51,C1orf195;Func=exonic;Gene=NM_001278502;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf195:NM_001278502:exon3:c.A191T:p.Y64F;Gencode=Name\x3eENST00000424792.5,ENST00000428417.5,ENST00000434578.6,ENST00000376014.7,ENST00000376008.2,ENST00000400796.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2684\x3bName\x3e"29261:L1MD3(LINE)";avsnp150=rs61561984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.182;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.304;1000g2015aug_all=0.226438;esp6500siv2_all=.;ExAC_ALL=0.1939;ExAC_AFR=0.0638;ExAC_AMR=0.3478;ExAC_EAS=0.6515;ExAC_FIN=.;ExAC_NFE=0.2070;ExAC_OTH=0.2034;ExAC_SAS=0.1823;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.013;phyloP20way_mammalian=-0.406;SiPhy_29way_logOdds=3.764;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1229,114,0 1 15497727 rs6429722 T C 5176.77 PASS AC=2;AF=1;AN=2;DP=165;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51,C1orf195;Func=exonic;Gene=NM_001278501,NM_001278502;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf195:NM_001278501:exon2:c.A48G:p.R16R,C1orf195:NM_001278502:exon2:c.A48G:p.R16R;Gencode=Name\x3eENST00000424792.5,ENST00000400796.7,ENST00000376008.2,ENST00000625027.2,ENST00000428417.5,ENST00000376014.7,ENST00000434578.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e818\x3bName\x3e"29281:MER5A(DNA)";avsnp150=rs6429722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9085;1000g2015aug_amr=0.9582;1000g2015aug_all=0.95627;esp6500siv2_all=.;ExAC_ALL=0.9663;ExAC_AFR=0.9059;ExAC_AMR=0.9760;ExAC_EAS=0.9979;ExAC_FIN=0.9266;ExAC_NFE=0.9557;ExAC_OTH=0.9505;ExAC_SAS=0.9853;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,165:165:99:5205,494,0 1 15497844 rs10429935 T A 3755.77 PASS AC=2;AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.24;SOR=2.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf195,TMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001278501,NM_001278502,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376008.2,ENST00000400796.7,ENST00000376014.7,ENST00000434578.6,ENST00000428417.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1420\x3bName\x3e"29282:LTR33C(LTR)";avsnp150=rs10429935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.8732;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.8141;1000g2015aug_all=0.758586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3784,339,0 1 15497954 rs6689923 A G 1128.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51,C1orf195;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001278501,NM_001278502,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376014.7,ENST00000434578.6,ENST00000428417.5,ENST00000376008.2,ENST00000400796.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1420\x3bName\x3e"29282:LTR33C(LTR)";avsnp150=rs6689923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.8732;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.4085;1000g2015aug_amr=0.8112;1000g2015aug_all=0.748203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1157,84,0 1 15513810 rs6693418 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428417.5,ENST00000434578.6,ENST00000376014.7,ENST00000400796.7,ENST00000376008.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.6599;1000g2015aug_all=0.554712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15519583 rs742670 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400796.7,ENST00000376008.2,ENST00000428417.5,ENST00000376014.7,ENST00000434578.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs742670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.8156;1000g2015aug_all=0.828874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 15525410 rs2179650 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376008.2,ENST00000400796.7,ENST00000434578.6,ENST00000376014.7,ENST00000428417.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2179650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.7133;1000g2015aug_all=0.706669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 15540165 rs1892197 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428417.5,ENST00000434578.6,ENST00000376014.7,ENST00000400796.7,ENST00000376008.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.663;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.7954;1000g2015aug_all=0.767572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 15541407 rs3753316 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=UTR5;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=NM_001136216:c.-177C>T\x3bNM_001136217:c.-177C>T\x3bNM_001136218:c.-177C>T\x3bNM_001319665:c.-177C>T\x3bNM_018022:c.-177C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376008.2,ENST00000400796.7,ENST00000434578.6,ENST00000376014.7,ENST00000428417.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.362;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.348;1000g2015aug_amr=0.5072;1000g2015aug_all=0.41234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 15541537 rs3753314 C T 1486.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=UTR5;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=NM_001136216:c.-47C>T\x3bNM_001136217:c.-47C>T\x3bNM_001136218:c.-47C>T\x3bNM_001319665:c.-47C>T\x3bNM_018022:c.-47C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000376008.2,ENST00000400796.7,ENST00000376014.7,ENST00000434578.6,ENST00000428417.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.9035;1000g2015aug_all=0.857228;esp6500siv2_all=0.8133;ExAC_ALL=0.8753;ExAC_AFR=0.7072;ExAC_AMR=0.9316;ExAC_EAS=0.9715;ExAC_FIN=0.8860;ExAC_NFE=0.8674;ExAC_OTH=0.8856;ExAC_SAS=0.9161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1515,132,0 1 15542097 rs3820063 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM51;Func=intronic;Gene=NM_001136216,NM_001136217,NM_001136218,NM_001319665,NM_018022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400796.7,ENST00000376008.2,ENST00000428417.5,ENST00000376014.7,ENST00000434578.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.5533;1000g2015aug_all=0.495807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 15599160 rs6703580 G T 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.6657;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 15599164 rs6703582 G C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.54;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.6657;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 15613643 rs534653 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs534653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.6974;1000g2015aug_all=0.722843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 15635500 rs10489961 G T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375997.8,ENST00000358897.8,ENST00000375998.8,ENST00000375995.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0562;1000g2015aug_all=0.066893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 15643218 rs477590 G A 197.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375995.3,ENST00000375998.8,ENST00000375997.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs477590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.675;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.7507;1000g2015aug_all=0.611821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:226,18,0 1 15650784 rs3765354 T G 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.517;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.281;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000375995.3,ENST00000375997.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.3588;1000g2015aug_all=0.309704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:270,0,543 1 15650791 rs3765355 G C 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.192;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-0.051;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375997.8,ENST00000375995.3,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.3573;1000g2015aug_all=0.309505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:309,0,540 1 15651062 rs3765356 A G 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.85;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.517;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000375995.3,ENST00000358897.8,ENST00000375997.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.3573;1000g2015aug_all=0.311102;esp6500siv2_all=0.3445;ExAC_ALL=0.3406;ExAC_AFR=0.4038;ExAC_AMR=0.3374;ExAC_EAS=0.0675;ExAC_FIN=0.3412;ExAC_NFE=0.3083;ExAC_OTH=0.2975;ExAC_SAS=0.3822;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:254,0,220 1 15653503 rs7532559 A G 351.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.298;DP=37;ExcessHet=3.0103;FS=1.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.96;SOR=0.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375997.8,ENST00000358897.8,ENST00000428747.1,ENST00000375995.3,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.3573;1000g2015aug_all=0.32488;esp6500siv2_all=0.3533;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,15:37:99:380,0,553 1 15653563 rs3765357 C T 742.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.571;DP=64;ExcessHet=3.0103;FS=3.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.371;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=exonic;Gene=NM_052929;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FHAD1:NM_052929:exon12:c.C1482T:p.H494H;Gencode=Name\x3eENST00000358897.8,ENST00000375997.8,ENST00000428747.1,ENST00000375995.3,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.329;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.3228;1000g2015aug_all=0.221046;esp6500siv2_all=0.2547;ExAC_ALL=0.2988;ExAC_AFR=0.1574;ExAC_AMR=0.2990;ExAC_EAS=0.0539;ExAC_FIN=0.4384;ExAC_NFE=0.2960;ExAC_OTH=0.265;ExAC_SAS=0.3454;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,29:64:99:771,0,939 1 15653872 rs10127456 G A 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375997.8,ENST00000358897.8,ENST00000428747.1,ENST00000375995.3,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10127456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.3228;1000g2015aug_all=0.219848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,214 1 15668276 rs763821 G A 756.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.216;DP=59;ExcessHet=3.0103;FS=3.662;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.03;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=exonic;Gene=NM_052929;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FHAD1:NM_052929:exon15:c.G1951A:p.G651R;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8,ENST00000428747.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs763821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.4078;1000g2015aug_all=0.345847;esp6500siv2_all=0.4319;ExAC_ALL=0.3971;ExAC_AFR=0.4902;ExAC_AMR=0.3881;ExAC_EAS=0.0481;ExAC_FIN=0.4005;ExAC_NFE=0.3998;ExAC_OTH=0.3902;ExAC_SAS=0.3937;SIFT_score=0.945;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.554;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.06;MutationAssessor_pred=N;FATHMM_score=-1.68;FATHMM_pred=D;phyloP100way_vertebrate=-0.012;phyloP20way_mammalian=-0.261;SiPhy_29way_logOdds=9.414;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,31:59:99:785,0,702 1 15668631 rs7528747 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8,ENST00000428747.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.3314;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 15687059 rs4661330 A G 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.671;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=exonic;Gene=NM_052929;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FHAD1:NM_052929:exon21:c.A2756G:p.E919G;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.2147;1000g2015aug_all=0.252995;esp6500siv2_all=0.2764;ExAC_ALL=0.2354;ExAC_AFR=0.2619;ExAC_AMR=0.2321;ExAC_EAS=0.2772;ExAC_FIN=0.2976;ExAC_NFE=0.2678;ExAC_OTH=0.1680;ExAC_SAS=0.1744;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.51;MutationAssessor_pred=M;FATHMM_score=0.94;FATHMM_pred=T;phyloP100way_vertebrate=3.025;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=11.733;gerp++gt2=5.35;CADD=2.834;CADD_Phred=21.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:328,0,237 1 15695611 rs12082286 A C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e514\x3bName\x3e"29768:MIR(SINE)";avsnp150=rs12082286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.1595;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.1585;1000g2015aug_all=0.210663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 15701356 rs10159174 G T 381.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2097\x3bName\x3e"29783:AluSx4(SINE)";avsnp150=rs10159174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:410,33,0 1 15701364 rs566652969 T G 183.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.1;DP=8;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.97;ReadPosRankSum=0.366;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2097\x3bName\x3e"29783:AluSx4(SINE)";avsnp150=rs566652969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0115;1000g2015aug_all=0.019369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:25:212,0,25 1 15708151 rs142616036 G A 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142616036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:76,0,69 1 15709813 . A G 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.405;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,216 1 15714831 rs6669577 C T 278.03 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.126;DP=10;ExcessHet=3.0103;FS=10;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.8;ReadPosRankSum=-0.674;SOR=4.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=intronic;Gene=NM_052929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375998.8,ENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e39\x3bName\x3e"29811:(CCTC)n(Simple_repeat)";avsnp150=rs6669577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0069;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0294;ExAC_FIN=0;ExAC_NFE=0.0076;ExAC_OTH=0;ExAC_SAS=0.0092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,9:10:12:306,0,12 1 15723843 rs2294490 G A 3158.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.384;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=exonic;Gene=NM_052929;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FHAD1:NM_052929:exon31:c.G4173A:p.L1391L;Gencode=Name\x3eENST00000358897.8,ENST00000375998.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.32;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.2925;1000g2015aug_all=0.310703;esp6500siv2_all=0.3647;ExAC_ALL=0.3764;ExAC_AFR=0.1493;ExAC_AMR=0.3134;ExAC_EAS=0.4633;ExAC_FIN=0.4385;ExAC_NFE=0.4683;ExAC_OTH=0.4727;ExAC_SAS=0.3110;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3187,296,0 1 15724033 rs2253372 A G 1561.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=2.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHAD1;Func=UTR3;Gene=NM_052929;GeneDetail=NM_052929:c.*124A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358897.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.5807;1000g2015aug_all=0.745008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1590,141,0 1 15754484 rs2473356 T C 2303.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=1.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFHD2;Func=intronic;Gene=NM_024329;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375980.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2473356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.7695;1000g2015aug_all=0.912141;esp6500siv2_all=.;ExAC_ALL=0.8660;ExAC_AFR=0.9707;ExAC_AMR=0.7842;ExAC_EAS=1;ExAC_FIN=0.8323;ExAC_NFE=0.8591;ExAC_OTH=0.8777;ExAC_SAS=0.8581;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2332,207,0 1 15768733 rs2549316 A G 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTRC;Func=intronic;Gene=NM_007272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375949.4,ENST00000375943.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"29948:MIRb(SINE)";avsnp150=rs2549316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.5072;1000g2015aug_all=0.53774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 15770101 rs10803384 C A 1098.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.053;DP=78;ExcessHet=3.0103;FS=0.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.755;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTRC;Func=intronic;Gene=NM_007272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375949.4,ENST00000375943.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10803384;cosmic70=.;CLNALLELEID=432977;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.2161;1000g2015aug_all=0.171326;esp6500siv2_all=0.2288;ExAC_ALL=0.1992;ExAC_AFR=0.2212;ExAC_AMR=0.2247;ExAC_EAS=0.0478;ExAC_FIN=0.1580;ExAC_NFE=0.2261;ExAC_OTH=0.1840;ExAC_SAS=0.1555;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,40:78:99:1127,0,1139 1 15772057 rs10927786 G T 2033.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.33;SOR=2.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTRC;Func=intronic;Gene=NM_007272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375949.4,ENST00000375943.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927786;cosmic70=.;CLNALLELEID=432983;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.416;1000g2015aug_amr=0.3602;1000g2015aug_all=0.357628;esp6500siv2_all=0.3707;ExAC_ALL=0.3655;ExAC_AFR=0.3990;ExAC_AMR=0.3825;ExAC_EAS=0.2430;ExAC_FIN=0.2719;ExAC_NFE=0.3730;ExAC_OTH=0.3546;ExAC_SAS=0.4042;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2062,171,0 1 15772933 rs555015 A G 681.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTRC;Func=intronic;Gene=NM_007272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375949.4,ENST00000375943.6;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs555015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.5159;1000g2015aug_all=0.544529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:710,51,0 1 15781220 rs541296 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_007272,NM_033440;GeneDetail=dist\x3e8067\x3bdist\x3e2003;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=Score\x3e263\x3bName\x3e"29980:MIRc(SINE)";avsnp150=rs541296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.5446;1000g2015aug_amr=0.3905;1000g2015aug_all=0.39397;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 15783081 rs2303194 T C 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.228;DP=46;ExcessHet=3.0103;FS=3.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=0.15;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs2303194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.084;1000g2015aug_amr=0.1326;1000g2015aug_all=0.142572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,16:46:99:417,0,776 1 15783381 rs2303196 C T 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.442;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs2303196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.1326;1000g2015aug_all=0.141573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:170,0,295 1 15788491 rs3737697 C T 611.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=Score\x3e309\x3bName\x3e"30005:MIRb(SINE)";avsnp150=rs3737697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2536;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:640,63,0 1 15788630 rs7512589 G A 454.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs7512589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2536;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=0.2745;ExAC_AFR=0.3490;ExAC_AMR=0.2979;ExAC_EAS=0.2247;ExAC_FIN=0.1887;ExAC_NFE=0.2860;ExAC_OTH=0.2816;ExAC_SAS=0.2779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:483,42,0 1 15788693 rs7536007 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.96;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs7536007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2536;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=0.2756;ExAC_AFR=0.3524;ExAC_AMR=0.2979;ExAC_EAS=0.228;ExAC_FIN=0.1894;ExAC_NFE=0.2879;ExAC_OTH=0.2837;ExAC_SAS=0.2779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 15788789 rs7547591 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=Score\x3e409\x3bName\x3e"30006:MIR3(SINE)";avsnp150=rs7547591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2536;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 15789003 rs7552327 T C 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs7552327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.2522;1000g2015aug_all=0.287141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 15789080 rs3815785 T G 971.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=3.125;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.17;ReadPosRankSum=-1.468;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.2565;1000g2015aug_all=0.291733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,25:26:68:1000,68,0 1 15789176 rs3815786 C T 2754.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.332;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3631;1000g2015aug_amr=0.2522;1000g2015aug_all=0.285942;esp6500siv2_all=0.2721;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2783,237,0 1 15789297 rs3815787 A C 5868.77 PASS AC=2;AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=0.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=exonic;Gene=NM_033440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA2A:NM_033440:exon4:c.A297C:p.A99A;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.6762;1000g2015aug_amr=0.3213;1000g2015aug_all=0.398762;esp6500siv2_all=0.4253;ExAC_ALL=0.3399;ExAC_AFR=0.6126;ExAC_AMR=0.2717;ExAC_EAS=0.2393;ExAC_FIN=0.2472;ExAC_NFE=0.3276;ExAC_OTH=0.3458;ExAC_SAS=0.3552;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,187:187:99:5897,560,0 1 15789446 rs3815788 C G 2010.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.674;1000g2015aug_amr=0.3213;1000g2015aug_all=0.397364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:2039,138,0 1 15789450 rs3815789 T A 1970.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.3242;1000g2015aug_all=0.409744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1999,135,0 1 15789545 rs3815791 G C 680.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.2522;1000g2015aug_all=0.284145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:709,51,0 1 15789733 rs3815792 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2A;Func=intronic;Gene=NM_033440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359621.4;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15473454;Repeat=.;avsnp150=rs3815792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.3156;1000g2015aug_all=0.333666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 15812432 rs6429745 A G 2406.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.9;SOR=2.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2B;Func=exonic;Gene=NM_015849;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CELA2B:NM_015849:exon6:c.A530G:p.Q177R;Gencode=Name\x3eENST00000375910.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15454045;Repeat=.;avsnp150=rs6429745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.9942;1000g2015aug_all=0.993211;esp6500siv2_all=0.9928;ExAC_ALL=0.9982;ExAC_AFR=0.9821;ExAC_AMR=0.9986;ExAC_EAS=0.9995;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9998;SIFT_score=0.379;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.305;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=-2.38;FATHMM_pred=D;phyloP100way_vertebrate=-1.209;phyloP20way_mammalian=-0.001;SiPhy_29way_logOdds=0.461;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2435,213,0 1 15813751 rs2011159 C T 2169.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.263;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2B;Func=intronic;Gene=NM_015849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375910.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15454045;Repeat=.;avsnp150=rs2011159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9999;ExAC_ALL=1.0000;ExAC_AFR=0.9999;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2198,204,0 1 15813969 rs3737704 A C 590.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.923;DP=33;ExcessHet=3.0103;FS=5.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.9;ReadPosRankSum=0.434;SOR=2.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA2B;Func=intronic;Gene=NM_015849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375910.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=Score\x3e0.900277\x3bName\x3echr1:15454045;Repeat=.;avsnp150=rs3737704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.5807;1000g2015aug_all=0.651558;esp6500siv2_all=0.6539;ExAC_ALL=0.5760;ExAC_AFR=0.8542;ExAC_AMR=0.4397;ExAC_EAS=0.6754;ExAC_FIN=0.6757;ExAC_NFE=0.5664;ExAC_OTH=0.6086;ExAC_SAS=0.4389;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:619,0,425 1 15820576 rs2020900 T A 702.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.805;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-0.859;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.5274;1000g2015aug_all=0.634385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,22:40:99:731,0,532 1 15820607 rs2020895 A G 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.591;DP=21;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=1.409;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.5014;1000g2015aug_all=0.594249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:394,0,320 1 15820618 rs2020898 A G 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=2.055;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375890.8,ENST00000546424.5,ENST00000333868.9,ENST00000348549.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.5274;1000g2015aug_all=0.634385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:322,0,310 1 15821585 rs4233532 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.7776;1000g2015aug_amr=0.5;1000g2015aug_all=0.584665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 15821673 rs4646092 C T 295.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.285;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.448;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e345\x3bName\x3e"30093:MIRc(SINE)";avsnp150=rs4646092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.1859;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,10:26:99:324,0,578 1 15822043 rs4646091 T C 527.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.3;ReadPosRankSum=0.659;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3615\x3bName\x3e"30095:PRIMA4_LTR(LTR)";avsnp150=rs4646091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.1859;1000g2015aug_all=0.236022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,16:26:99:556,0,260 1 15832229 rs1800616 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1800616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4281;1000g2015aug_amr=0.1873;1000g2015aug_all=0.231829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 15832383 rs1800614 G T 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.718;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.859;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375890.8,ENST00000546424.5,ENST00000348549.9,ENST00000333868.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1800614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,9:34:99:240,0,794 1 15832543 rs1052576 T C 972.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.894;DP=108;ExcessHet=3.0103;FS=4.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.413;SOR=0.384;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=exonic;Gene=NM_001229,NM_032996;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CASP9:NM_001229:exon5:c.A662G:p.Q221R,CASP9:NM_032996:exon5:c.A413G:p.Q138R;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584864;esp6500siv2_all=0.5877;ExAC_ALL=0.5369;ExAC_AFR=0.7005;ExAC_AMR=0.3920;ExAC_EAS=0.6510;ExAC_FIN=0.6335;ExAC_NFE=0.5380;ExAC_OTH=0.5828;ExAC_SAS=0.4303;SIFT_score=0.983;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.128;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.5;MutationAssessor_pred=N;FATHMM_score=2.1;FATHMM_pred=T;phyloP100way_vertebrate=-1.879;phyloP20way_mammalian=-2.536;SiPhy_29way_logOdds=15.897;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,46:108:99:1001,0,1538 1 15834160 rs4646034 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4646034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.7443;1000g2015aug_amr=0.4986;1000g2015aug_all=0.585663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 15834297 rs2020903 G A 482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.652;DP=33;ExcessHet=3.0103;FS=2.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.559;SOR=1.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584265;esp6500siv2_all=0.5828;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:511,0,523 1 15834491 rs4646032 G A 1618.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.093;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.814;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000375890.8,ENST00000546424.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1244\x3bName\x3e"30123:L1ME2(LINE)";avsnp150=rs4646032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,64:107:99:1647,0,1004 1 15834648 rs4646031 A G 192.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.54;ReadPosRankSum=-0.792;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1244\x3bName\x3e"30123:L1ME2(LINE)";avsnp150=rs4646031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.1873;1000g2015aug_all=0.235423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:221,0,21 1 15844615 rs1132312 A G 1020.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.336;DP=82;ExcessHet=3.0103;FS=0.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.058;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=exonic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CASP9:NM_001229:exon2:c.T408C:p.F136F,CASP9:NM_001278054:exon2:c.T408C:p.F136F,CASP9:NM_032996:exon2:c.T159C:p.F53F;Gencode=Name\x3eENST00000546424.5,ENST00000375890.8,ENST00000333868.9,ENST00000348549.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1132312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584864;esp6500siv2_all=0.5875;ExAC_ALL=0.5365;ExAC_AFR=0.6994;ExAC_AMR=0.3920;ExAC_EAS=0.6511;ExAC_FIN=0.6337;ExAC_NFE=0.5373;ExAC_OTH=0.5826;ExAC_SAS=0.4304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,37:82:99:1049,0,1295 1 15844926 rs1820205 C T 1212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.555;DP=74;ExcessHet=3.0103;FS=1.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.288;SOR=0.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=intronic;Gene=NM_001229,NM_001278054,NM_032996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333868.9,ENST00000348549.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1820205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584665;esp6500siv2_all=0.5873;ExAC_ALL=0.5398;ExAC_AFR=0.7010;ExAC_AMR=0.3912;ExAC_EAS=0.6515;ExAC_FIN=0.6354;ExAC_NFE=0.5400;ExAC_OTH=0.5826;ExAC_SAS=0.4432;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,41:74:99:1241,0,928 1 15850603 rs4645983 G A 136.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.695;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-1.204;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=exonic;Gene=NM_001229,NM_001278054;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CASP9:NM_001229:exon1:c.C93T:p.S31S,CASP9:NM_001278054:exon1:c.C93T:p.S31S;Gencode=Name\x3eENST00000375890.8,ENST00000546424.5,ENST00000333868.9,ENST00000348549.9;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4645983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.1873;1000g2015aug_all=0.235623;esp6500siv2_all=0.2514;ExAC_ALL=0.2516;ExAC_AFR=0.4496;ExAC_AMR=0.1722;ExAC_EAS=0.0896;ExAC_FIN=0.38;ExAC_NFE=0.2648;ExAC_OTH=0.2901;ExAC_SAS=0.2101;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,5:19:99:165,0,616 1 15850613 rs1052571 G A 165.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.614;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.455;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASP9;Func=exonic;Gene=NM_001229,NM_001278054;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CASP9:NM_001229:exon1:c.C83T:p.A28V,CASP9:NM_001278054:exon1:c.C83T:p.A28V;Gencode=Name\x3eENST00000348549.9,ENST00000333868.9,ENST00000546424.5,ENST00000375890.8;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.739;1000g2015aug_amr=0.4986;1000g2015aug_all=0.584665;esp6500siv2_all=.;ExAC_ALL=0.5026;ExAC_AFR=0.6836;ExAC_AMR=0.4703;ExAC_EAS=0.6015;ExAC_FIN=0.6102;ExAC_NFE=0.5137;ExAC_OTH=0.5253;ExAC_SAS=0.4264;SIFT_score=0.527;SIFT_pred=T;Polyphen2_HDIV_score=0.793;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.303;Polyphen2_HVAR_pred=B;LRT_score=0.809;LRT_pred=N;MutationTaster_score=0.980;MutationTaster_pred=P;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_pred=T;phyloP100way_vertebrate=2.250;phyloP20way_mammalian=0.102;SiPhy_29way_logOdds=4.600;gerp++gt2=.;CADD=1.530;CADD_Phred=13.47;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,6:23:99:194,0,656 1 15860563 rs6703016 T A 200.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.69;ReadPosRankSum=-0.366;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC16;Func=intronic;Gene=NM_001287811,NM_015291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616884.4,ENST00000375838.5,ENST00000375849.5,ENST00000375847.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.5231;1000g2015aug_all=0.622804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:229,0,21 1 15860803 rs11583306 C T 884.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.088;DP=76;ExcessHet=3.0103;FS=5.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.626;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC16;Func=intronic;Gene=NM_001287811,NM_015291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375847.7,ENST00000616884.4,ENST00000375838.5,ENST00000375849.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11583306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.4289;1000g2015aug_amr=0.1873;1000g2015aug_all=0.229832;esp6500siv2_all=0.2888;ExAC_ALL=0.2224;ExAC_AFR=0.4035;ExAC_AMR=0.1239;ExAC_EAS=0.0490;ExAC_FIN=0.2793;ExAC_NFE=0.2298;ExAC_OTH=0.2550;ExAC_SAS=0.2137;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,35:76:99:913,0,1012 1 15890221 rs59532384 C G 100.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC16;Func=intronic;Gene=NM_001287811,NM_015291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375849.5,ENST00000375838.5,ENST00000616884.4,ENST00000375847.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2197\x3bName\x3e"30284:AluY(SINE)";avsnp150=rs59532384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.219;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:128,9,0 1 15892415 rs2236215 A C 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.131;DP=35;ExcessHet=3.0103;FS=6.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.76;ReadPosRankSum=-1.101;SOR=1.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC16;Func=exonic;Gene=NM_001287811,NM_015291;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAJC16:NM_001287811:exon11:c.A664C:p.R222R,DNAJC16:NM_015291:exon12:c.A1600C:p.R534R;Gencode=Name\x3eENST00000375847.7,ENST00000616884.4,ENST00000375838.5,ENST00000606186.1,ENST00000375849.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.219;1000g2015aug_all=0.288139;esp6500siv2_all=0.3588;ExAC_ALL=0.2552;ExAC_AFR=0.5726;ExAC_AMR=0.1359;ExAC_EAS=0.0682;ExAC_FIN=0.3027;ExAC_NFE=0.2544;ExAC_OTH=0.2781;ExAC_SAS=0.2197;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,8:35:99:195,0,636 1 15893862 rs2042367 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC16;Func=intronic;Gene=NM_001287811,NM_015291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375849.5,ENST00000616884.4,ENST00000375847.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2042367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.5274;1000g2015aug_all=0.634385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 15901121 rs61213091 C T 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.365;DP=24;ExcessHet=3.0103;FS=2.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.059;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3,ENST00000375849.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2298\x3bName\x3e"30302:AluSx(SINE)";avsnp150=rs61213091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.1873;1000g2015aug_all=0.23722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:277,0,475 1 15904318 rs11544523 C T 1105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.928;DP=117;ExcessHet=3.0103;FS=0.717;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.384;SOR=0.579;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=exonic;Gene=NM_024758;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGMAT:NM_024758:exon5:c.G762A:p.S254S;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11544523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.1873;1000g2015aug_all=0.23742;esp6500siv2_all=0.2932;ExAC_ALL=0.2248;ExAC_AFR=0.4181;ExAC_AMR=0.1234;ExAC_EAS=0.0681;ExAC_FIN=0.2788;ExAC_NFE=0.2296;ExAC_OTH=0.2577;ExAC_SAS=0.2131;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,44:117:99:1134,0,2000 1 15905206 rs6669156 T A 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.315;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.5;1000g2015aug_amr=0.1916;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,256 1 15909441 rs10803393 C T 137.79 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=-1.465;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2235\x3bName\x3e"30324:AluSx1(SINE)";avsnp150=rs10803393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.5216;1000g2015aug_all=0.613019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:22:166,0,22 1 15909547 rs6429756 G A 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.76;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-2.152;SOR=1.314;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.5216;1000g2015aug_all=0.613818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:367,0,159 1 15909744 rs11580170 C T 989.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.075;DP=95;ExcessHet=3.0103;FS=0.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.214;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=exonic;Gene=NM_024758;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AGMAT:NM_024758:exon2:c.G419A:p.R140Q;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.2133;1000g2015aug_all=0.272364;esp6500siv2_all=0.3415;ExAC_ALL=0.2511;ExAC_AFR=0.5179;ExAC_AMR=0.1354;ExAC_EAS=0.0682;ExAC_FIN=0.3029;ExAC_NFE=0.2550;ExAC_OTH=0.2704;ExAC_SAS=0.2225;SIFT_score=0.619;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.042;Polyphen2_HVAR_pred=B;LRT_score=0.071;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.325;MutationAssessor_pred=N;FATHMM_score=-1.79;FATHMM_pred=D;phyloP100way_vertebrate=0.558;phyloP20way_mammalian=0.182;SiPhy_29way_logOdds=8.486;gerp++gt2=.;CADD=1.282;CADD_Phred=12.17;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,41:95:99:1018,0,1506 1 15909850 rs6429757 C G 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.41;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.784;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=exonic;Gene=NM_024758;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AGMAT:NM_024758:exon2:c.G313C:p.G105R;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.5274;1000g2015aug_all=0.633187;esp6500siv2_all=0.6539;ExAC_ALL=0.5669;ExAC_AFR=0.8554;ExAC_AMR=0.4036;ExAC_EAS=0.6322;ExAC_FIN=0.6572;ExAC_NFE=0.5637;ExAC_OTH=0.5989;ExAC_SAS=0.4391;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.99;MutationAssessor_pred=N;FATHMM_score=-1.9;FATHMM_pred=D;phyloP100way_vertebrate=0.615;phyloP20way_mammalian=-0.308;SiPhy_29way_logOdds=3.784;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,42:83:99:1062,0,1213 1 15909895 rs6429758 A G 679.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.382;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.144;SOR=0.606;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.5202;1000g2015aug_all=0.612819;esp6500siv2_all=0.6321;ExAC_ALL=0.5731;ExAC_AFR=0.7919;ExAC_AMR=0.4275;ExAC_EAS=0.6399;ExAC_FIN=0.6611;ExAC_NFE=0.5742;ExAC_OTH=0.6032;ExAC_SAS=0.4543;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,28:58:99:708,0,875 1 15911010 rs10927807 T G 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.135;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.18;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.5216;1000g2015aug_all=0.613219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:416,0,549 1 15911031 rs10927808 T G 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.759;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.088;SOR=0.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.5216;1000g2015aug_all=0.613219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,17:38:99:490,0,583 1 15911131 rs59475085 G A 1252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.865;DP=101;ExcessHet=3.0103;FS=1.599;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.663;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGMAT;Func=intronic;Gene=NM_024758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375826.3;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59475085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.2133;1000g2015aug_all=0.273562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,48:101:99:1281,0,1524 1 15919049 rs1547034 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024758,NM_032341;GeneDetail=dist\x3e7444\x3bdist\x3e24904;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428945.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1547034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.2334;1000g2015aug_all=0.334665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 15930943 rs72645893 C G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024758,NM_032341;GeneDetail=dist\x3e19338\x3bdist\x3e13010;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e983\x3bName\x3e"30399:AluSx(SINE)";avsnp150=rs72645893;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.441;1000g2015aug_amr=0.2205;1000g2015aug_all=0.249201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 15931709 rs72645895 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024758,NM_032341;GeneDetail=dist\x3e20104\x3bdist\x3e12244;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72645895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.441;1000g2015aug_amr=0.219;1000g2015aug_all=0.249201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 15953014 rs115933202 G T 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.327;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.157;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=intronic;Gene=NM_032341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e371\x3bName\x3e"30463:L2a(LINE)";avsnp150=rs115933202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:206,0,285 1 15956769 rs72647120 G T 519.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.045;DP=49;ExcessHet=3.0103;FS=1.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.417;SOR=0.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=intronic;Gene=NM_032341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72647120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.2176;1000g2015aug_all=0.251198;esp6500siv2_all=0.3253;ExAC_ALL=0.2633;ExAC_AFR=0.4253;ExAC_AMR=0.1413;ExAC_EAS=0.0280;ExAC_FIN=0.3371;ExAC_NFE=0.2889;ExAC_OTH=0.2852;ExAC_SAS=0.2402;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,20:49:99:548,0,791 1 15959886 rs3795762 C G 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.289;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.827;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=intronic;Gene=NM_032341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.5504;1000g2015aug_all=0.659944;esp6500siv2_all=0.6806;ExAC_ALL=0.5998;ExAC_AFR=0.8635;ExAC_AMR=0.4203;ExAC_EAS=0.6531;ExAC_FIN=0.7065;ExAC_NFE=0.6023;ExAC_OTH=0.6239;ExAC_SAS=0.4855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,10:29:99:262,0,558 1 15959977 rs3795763 C T 660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.513;DP=64;ExcessHet=3.0103;FS=0.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.568;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=exonic;Gene=NM_032341;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDI2:NM_032341:exon4:c.C549T:p.A183A;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.2176;1000g2015aug_all=0.250998;esp6500siv2_all=0.3275;ExAC_ALL=0.2642;ExAC_AFR=0.4248;ExAC_AMR=0.1415;ExAC_EAS=0.0280;ExAC_FIN=0.3369;ExAC_NFE=0.2893;ExAC_OTH=0.2874;ExAC_SAS=0.2406;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,26:64:99:689,0,1054 1 15960364 rs41270277 G A 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.81;DP=60;ExcessHet=3.0103;FS=2.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.056;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=intronic;Gene=NM_032341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.089;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0860623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,22:58:99:562,0,972 1 15969870 rs7531396 G C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.842;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDI2;Func=intronic;Gene=NM_032341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480945.5;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.2176;1000g2015aug_all=0.250998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 15986547 rs3766163 T C 984.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.746;DP=81;ExcessHet=3.0103;FS=3.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.732;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRSC1A1,DDI2;Func=exonic;Gene=NM_006511;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RSC1A1:NM_006511:exon1:c.T184C:p.F62L;Gencode=Name\x3eENST00000480945.5,ENST00000345034.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.2176;1000g2015aug_all=0.250799;esp6500siv2_all=0.3272;ExAC_ALL=0.2642;ExAC_AFR=0.4251;ExAC_AMR=0.1417;ExAC_EAS=0.0280;ExAC_FIN=0.3364;ExAC_NFE=0.2892;ExAC_OTH=0.2874;ExAC_SAS=0.2412;SIFT_score=0.716;SIFT_pred=T;Polyphen2_HDIV_score=0.021;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=1.09;FATHMM_pred=T;phyloP100way_vertebrate=1.414;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=8.289;gerp++gt2=4.48;CADD=1.401;CADD_Phred=12.79;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,36:81:99:1013,0,1202 1 16008379 rs55976422 T C 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=-0.272;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006511,NM_015164;GeneDetail=dist\x3e19854\x3bdist\x3e2419;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55976422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0848642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:173,0,101 1 16029166 rs2038482 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2191\x3bName\x3e"30647:AluSz(SINE)";avsnp150=rs2038482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.219;1000g2015aug_all=0.328474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16042766 rs12091750 T C 1027.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.252;DP=95;ExcessHet=3.0103;FS=5.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.076;SOR=1.286;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=exonic;Gene=NM_015164;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLEKHM2:NM_015164:exon2:c.T95C:p.I32T;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12091750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.2176;1000g2015aug_all=0.323083;esp6500siv2_all=0.3821;ExAC_ALL=0.3420;ExAC_AFR=0.7053;ExAC_AMR=0.2417;ExAC_EAS=0.0494;ExAC_FIN=0.3500;ExAC_NFE=0.3336;ExAC_OTH=0.3318;ExAC_SAS=0.2801;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.975;MutationAssessor_pred=N;FATHMM_score=2.92;FATHMM_pred=T;phyloP100way_vertebrate=4.846;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=12.372;gerp++gt2=5.15;CADD=1.227;CADD_Phred=11.89;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,39:95:99:1056,0,1519 1 16044945 rs12091644 G A 1771.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.644;DP=154;ExcessHet=3.0103;FS=2.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.94;SOR=0.894;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375799.7,ENST00000375793.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12091644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.2176;1000g2015aug_all=0.323083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,66:153:99:1800,0,2325 1 16045250 rs10927840 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.2089;1000g2015aug_all=0.310703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 1 16045261 rs10927841 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.2176;1000g2015aug_all=0.322284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 1 16046109 rs1006147 C T 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-0.619;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7183;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.5706;1000g2015aug_all=0.69369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:227,0,59 1 16047726 rs12734937 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375793.2,ENST00000375799.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12734937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.2176;1000g2015aug_all=0.323283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16051584 rs4661647 C T 286.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375799.7,ENST00000375793.2,ENST00000453804.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.9539;1000g2015aug_all=0.915535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:315,30,0 1 16051767 rs41270293 C T 558.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.873;DP=41;ExcessHet=3.0103;FS=1.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.63;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHM2;Func=intronic;Gene=NM_015164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453804.1,ENST00000375799.7,ENST00000375793.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0511182;esp6500siv2_all=0.0543;ExAC_ALL=0.0630;ExAC_AFR=0.0819;ExAC_AMR=0.0387;ExAC_EAS=0.0168;ExAC_FIN=0.1;ExAC_NFE=0.0595;ExAC_OTH=0.0595;ExAC_SAS=0.0659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,23:41:99:587,0,526 1 16070763 rs61740772 C T 441.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.582;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.339;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM82;Func=exonic;Gene=NM_001013641;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMEM82:NM_001013641:exon4:c.C445T:p.R149C;Gencode=Name\x3eENST00000375782.1,ENST00000418525.1;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61740772;cosmic70=ID\x3eCOSM1335654\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00698882;esp6500siv2_all=0.0092;ExAC_ALL=0.0130;ExAC_AFR=0.0376;ExAC_AMR=0.0055;ExAC_EAS=0;ExAC_FIN=0.0087;ExAC_NFE=0.0119;ExAC_OTH=0.0142;ExAC_SAS=0.0124;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.116;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.52;MutationAssessor_pred=L;FATHMM_score=0.65;FATHMM_pred=T;phyloP100way_vertebrate=0.385;phyloP20way_mammalian=0.848;SiPhy_29way_logOdds=6.624;gerp++gt2=2.37;CADD=3.791;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,16:32:99:470,0,538 1 16095316 rs2271545 C T 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.748;DP=22;ExcessHet=3.0103;FS=3.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-2.339;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBLIM1;Func=intronic;Gene=NM_001024215,NM_001024216,NM_001350151,NM_017556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375771.5,ENST00000441801.6,ENST00000332305.5,ENST00000375766.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.7556;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.6931;1000g2015aug_all=0.643371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:401,0,310 1 16096893 rs12146078 C T 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.015;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=1.338;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBLIM1;Func=intronic;Gene=NM_001024215,NM_001024216,NM_001350151,NM_017556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332305.5,ENST00000375771.5,ENST00000441801.6,ENST00000375766.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12146078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0976;1000g2015aug_amr=0.2161;1000g2015aug_all=0.193291;esp6500siv2_all=0.1821;ExAC_ALL=0.2234;ExAC_AFR=0.1040;ExAC_AMR=0.3136;ExAC_EAS=0.0661;ExAC_FIN=0.1654;ExAC_NFE=0.2113;ExAC_OTH=0.1908;ExAC_SAS=0.3922;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:331,0,150 1 16096934 rs10927851 C T 451.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.551;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=0.649;SOR=0.668;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBLIM1;Func=exonic;Gene=NM_001024215,NM_001024216,NM_001350151,NM_017556;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F;Gencode=Name\x3eENST00000375771.5,ENST00000441801.6,ENST00000332305.5,ENST00000375766.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7556;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.6931;1000g2015aug_all=0.642372;esp6500siv2_all=0.6166;ExAC_ALL=0.6816;ExAC_AFR=0.4195;ExAC_AMR=0.7554;ExAC_EAS=0.8033;ExAC_FIN=0.6219;ExAC_NFE=0.6895;ExAC_OTH=0.6493;ExAC_SAS=0.7246;SIFT_score=0.766;SIFT_pred=T;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.059;LRT_pred=N;MutationTaster_score=0.146;MutationTaster_pred=P;MutationAssessor_score=0.875;MutationAssessor_pred=L;FATHMM_score=0.93;FATHMM_pred=T;phyloP100way_vertebrate=3.730;phyloP20way_mammalian=0.888;SiPhy_29way_logOdds=14.607;gerp++gt2=5.24;CADD=6.698;CADD_Phred=32;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,15:26:99:480,0,313 1 16097237 rs10803398 G A 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-0.817;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBLIM1;Func=intronic;Gene=NM_001024215,NM_001024216,NM_001350151,NM_017556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332305.5,ENST00000375771.5,ENST00000441801.6,ENST00000375766.7;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1460\x3bName\x3e"30798:MLT1D(LTR)";avsnp150=rs10803398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.8329;1000g2015aug_all=0.815695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,303 1 16133838 rs66673012 A T 300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.035;DP=31;ExcessHet=3.0103;FS=4.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.061;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUQCRHL;Func=UTR3;Gene=NM_001089591;GeneDetail=NM_001089591:c.*31T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483273.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66673012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3638;1000g2015aug_amr=0.0965;1000g2015aug_all=0.146166;esp6500siv2_all=0.1941;ExAC_ALL=0.1227;ExAC_AFR=0.3340;ExAC_AMR=0.0584;ExAC_EAS=0.0028;ExAC_FIN=0.1789;ExAC_NFE=0.1195;ExAC_OTH=0.1355;ExAC_SAS=0.0869;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:329,0,531 1 16133987 rs7417535 T C 885.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.063;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.41;MQRankSum=-2.48;QD=11.97;ReadPosRankSum=-0.96;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUQCRHL;Func=exonic;Gene=NM_001089591;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UQCRHL:NM_001089591:exon1:c.A158G:p.Y53C;Gencode=Name\x3eENST00000483273.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.0965;1000g2015aug_all=0.146366;esp6500siv2_all=0.1938;ExAC_ALL=0.1228;ExAC_AFR=0.3342;ExAC_AMR=0.0584;ExAC_EAS=0.0028;ExAC_FIN=0.1789;ExAC_NFE=0.1194;ExAC_OTH=0.1355;ExAC_SAS=0.0880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=3.664;phyloP20way_mammalian=-0.293;SiPhy_29way_logOdds=6.473;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,34:74:99:914,0,1012 1 16134072 rs61744357 C T 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.207;DP=94;ExcessHet=3.0103;FS=1.696;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=-1.749;QD=10.18;ReadPosRankSum=0.124;SOR=0.523;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUQCRHL;Func=exonic;Gene=NM_001089591;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UQCRHL:NM_001089591:exon1:c.G73A:p.E25K;Gencode=Name\x3eENST00000483273.2;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"30913:(TCC)n(Simple_repeat)";avsnp150=rs61744357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3638;1000g2015aug_amr=0.0965;1000g2015aug_all=0.146166;esp6500siv2_all=0.1942;ExAC_ALL=0.1226;ExAC_AFR=0.3342;ExAC_AMR=0.0584;ExAC_EAS=0.0028;ExAC_FIN=0.1789;ExAC_NFE=0.1195;ExAC_OTH=0.1358;ExAC_SAS=0.0868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.044;phyloP20way_mammalian=-0.340;SiPhy_29way_logOdds=7.299;gerp++gt2=.;CADD=2.260;CADD_Phred=17.90;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,37:94:99:985,0,1534 1 16151833 rs10458447 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001089591,NR_024279;GeneDetail=dist\x3e17639\x3bdist\x3e8877;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10458447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.7622;1000g2015aug_all=0.879792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16155107 rs10927860 G C 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001089591,NR_024279;GeneDetail=dist\x3e20913\x3bdist\x3e5603;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.6542;1000g2015aug_all=0.841054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 16155323 rs111869196 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001089591,NR_024279;GeneDetail=dist\x3e21129\x3bdist\x3e5387;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.21;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1252\x3bName\x3e"30986:AluSx(SINE)";avsnp150=rs111869196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.3964;1000g2015aug_amr=0.1354;1000g2015aug_all=0.171925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16256007 rs848209 T C 1138.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=exonic;Gene=NM_015001;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPEN:NM_015001:exon11:c.T3272C:p.L1091P;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.7118;1000g2015aug_all=0.648962;esp6500siv2_all=0.6878;ExAC_ALL=0.6154;ExAC_AFR=0.9195;ExAC_AMR=0.7683;ExAC_EAS=0.3288;ExAC_FIN=0.6043;ExAC_NFE=0.5770;ExAC_OTH=0.6018;ExAC_SAS=0.6278;SIFT_score=0.846;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=3.2;FATHMM_pred=T;phyloP100way_vertebrate=1.064;phyloP20way_mammalian=-0.302;SiPhy_29way_logOdds=11.158;gerp++gt2=3.51;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1167,102,0 1 16259813 rs848210 A G 2932.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=exonic;Gene=NM_015001;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPEN:NM_015001:exon11:c.A7078G:p.N2360D;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.7118;1000g2015aug_all=0.648962;esp6500siv2_all=0.6896;ExAC_ALL=0.6146;ExAC_AFR=0.9193;ExAC_AMR=0.7674;ExAC_EAS=0.3278;ExAC_FIN=0.6050;ExAC_NFE=0.5760;ExAC_OTH=0.6020;ExAC_SAS=0.6270;SIFT_score=0.853;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.625;MutationAssessor_pred=N;FATHMM_score=3.13;FATHMM_pred=T;phyloP100way_vertebrate=3.586;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=7.596;gerp++gt2=3.1;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2961,252,0 1 16261814 rs41269151 C A 2785.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.061;DP=208;ExcessHet=3.0103;FS=4.764;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.822;SOR=0.601;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=exonic;Gene=NM_015001;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPEN:NM_015001:exon11:c.C9079A:p.R3027R;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.0105831;esp6500siv2_all=0.0157;ExAC_ALL=0.0194;ExAC_AFR=0.0034;ExAC_AMR=0.0086;ExAC_EAS=0.0006;ExAC_FIN=0.0224;ExAC_NFE=0.0238;ExAC_OTH=0.0231;ExAC_SAS=0.0272;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:98,110:208:99:2814,0,2697 1 16263452 rs848212 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=intronic;Gene=NM_015001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.592;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.6916;1000g2015aug_all=0.563898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16265422 rs848214 A G 1256.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-1.367;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.93;ReadPosRankSum=1.579;SOR=0.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=intronic;Gene=NM_015001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.592;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.6679;1000g2015aug_amr=0.6902;1000g2015aug_all=0.564097;esp6500siv2_all=0.6043;ExAC_ALL=0.5899;ExAC_AFR=0.6615;ExAC_AMR=0.7578;ExAC_EAS=0.3288;ExAC_FIN=0.6052;ExAC_NFE=0.5745;ExAC_OTH=0.5986;ExAC_SAS=0.6226;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,44:45:94:1285,94,0 1 16265904 rs41269155 T A 494.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.207;DP=41;ExcessHet=3.0103;FS=2.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.355;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPEN;Func=exonic;Gene=NM_015001;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPEN:NM_015001:exon15:c.T10977A:p.I3659I;Gencode=Name\x3eENST00000375759.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0616;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0447284;esp6500siv2_all=0.0763;ExAC_ALL=0.0658;ExAC_AFR=0.0706;ExAC_AMR=0.0321;ExAC_EAS=0.0027;ExAC_FIN=0.1072;ExAC_NFE=0.0792;ExAC_OTH=0.0828;ExAC_SAS=0.0472;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:523,0,686 1 16267371 rs698890 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001242884,NM_001287603,NM_001287604,NM_001324137,NM_001324138,NM_003443,NM_015001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs698890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.592;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.6859;1000g2015aug_all=0.555511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16269737 rs4661672 C T 1733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.725;DP=110;ExcessHet=3.0103;FS=0.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=0.472;SOR=0.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB17;Func=intronic;Gene=NM_001242884,NM_001287603,NM_001287604,NM_001324137,NM_001324138,NM_003443;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375743.8,ENST00000537142.5,ENST00000375733.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.1112;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0597045;esp6500siv2_all=0.0904;ExAC_ALL=0.0686;ExAC_AFR=0.1154;ExAC_AMR=0.0341;ExAC_EAS=0.0025;ExAC_FIN=0.1074;ExAC_NFE=0.0785;ExAC_OTH=0.0795;ExAC_SAS=0.0421;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,61:110:99:1762,0,1409 1 16271260 rs9661939 G A 730.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.165;DP=44;ExcessHet=3.0103;FS=1.205;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=2.219;SOR=0.844;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB17;Func=exonic;Gene=NM_001242884,NM_001287603,NM_001287604,NM_001324137,NM_001324138,NM_003443;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZBTB17:NM_001242884:exon7:c.C756T:p.F252F,ZBTB17:NM_001324137:exon7:c.C774T:p.F258F,ZBTB17:NM_001324138:exon7:c.C813T:p.F271F,ZBTB17:NM_001287603:exon8:c.C1002T:p.F334F,ZBTB17:NM_001287604:exon8:c.C774T:p.F258F,ZBTB17:NM_003443:exon8:c.C1002T:p.F334F;Gencode=Name\x3eENST00000375733.6,ENST00000537142.5,ENST00000375743.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.41;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.3098;1000g2015aug_all=0.208267;esp6500siv2_all=0.2368;ExAC_ALL=0.2974;ExAC_AFR=0.1134;ExAC_AMR=0.3655;ExAC_EAS=0.0181;ExAC_FIN=0.2514;ExAC_NFE=0.3168;ExAC_OTH=0.3002;ExAC_SAS=0.4355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,27:44:99:759,0,442 1 16272250 rs848217 A G 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.858;DP=24;ExcessHet=3.0103;FS=1.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.264;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB17;Func=exonic;Gene=NM_001242884,NM_001287603,NM_001287604,NM_001324137,NM_001324138,NM_003443;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZBTB17:NM_001242884:exon5:c.T375C:p.A125A,ZBTB17:NM_001324137:exon5:c.T393C:p.A131A,ZBTB17:NM_001324138:exon5:c.T432C:p.A144A,ZBTB17:NM_001287603:exon6:c.T621C:p.A207A,ZBTB17:NM_001287604:exon6:c.T393C:p.A131A,ZBTB17:NM_003443:exon6:c.T621C:p.A207A;Gencode=Name\x3eENST00000537142.5,ENST00000375743.8,ENST00000375733.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.544;1000g2015aug_eur=0.502;1000g2015aug_afr=0.472;1000g2015aug_amr=0.6311;1000g2015aug_all=0.483027;esp6500siv2_all=0.4772;ExAC_ALL=0.5232;ExAC_AFR=0.4727;ExAC_AMR=0.7181;ExAC_EAS=0.3291;ExAC_FIN=0.5210;ExAC_NFE=0.5075;ExAC_OTH=0.5150;ExAC_SAS=0.5811;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:346,0,444 1 16314900 rs848298 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e12273\x3bdist\x3e15831;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.7622;1000g2015aug_all=0.881789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 16316516 rs848303 T C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e13889\x3bdist\x3e14215;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8487;1000g2015aug_all=0.89377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 16316631 rs848304 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e14004\x3bdist\x3e14100;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8487;1000g2015aug_all=0.892772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16317706 rs848306 A G 544.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e15079\x3bdist\x3e13025;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8473;1000g2015aug_all=0.893171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:573,48,0 1 16319105 rs59454432 A G 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.043;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.037;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e16478\x3bdist\x3e11626;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59454432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0726;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:385,0,161 1 16319232 rs848307 A G 726.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e16605\x3bdist\x3e11499;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs848307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8473;1000g2015aug_all=0.89377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:755,69,0 1 16319862 rs1999736 G C 239.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.98;ReadPosRankSum=0.319;SOR=1.447;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e17235\x3bdist\x3e10869;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.7349;1000g2015aug_all=0.728435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:268,0,18 1 16319957 rs10927878 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e17330\x3bdist\x3e10774;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.4047;1000g2015aug_amr=0.4222;1000g2015aug_all=0.285743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 16320028 rs10927879 G A 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e17401\x3bdist\x3e10703;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10927879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.33;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.4035;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 16321240 rs4661680 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e18613\x3bdist\x3e9491;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0089;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.2968;1000g2015aug_all=0.114018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:29:75,0,29 1 16321523 rs4661681 T C 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.645;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287604,NM_178840;GeneDetail=dist\x3e18896\x3bdist\x3e9208;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0423323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:76,0,69 1 16341649 rs1048238 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR3;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349682:c.*426G>A\x3bNM_001349683:c.*426G>A\x3bNM_001349685:c.*426G>A\x3bNM_001349686:c.*426G>A\x3bNM_001349687:c.*426G>A\x3bNM_001349688:c.*426G>A\x3bNM_001349689:c.*426G>A\x3bNM_014424:c.*426G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375718.4,ENST00000411503.5,ENST00000311890.13;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.636;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.4207;1000g2015aug_all=0.633786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16341733 rs1048237 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR3;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349682:c.*342A>G\x3bNM_001349683:c.*342A>G\x3bNM_001349685:c.*342A>G\x3bNM_001349686:c.*342A>G\x3bNM_001349687:c.*342A>G\x3bNM_001349688:c.*342A>G\x3bNM_001349689:c.*342A>G\x3bNM_014424:c.*342A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311890.13,ENST00000375718.4,ENST00000411503.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.4582;1000g2015aug_all=0.652756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 16342237 rs1739840 A G 480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.665;DP=38;ExcessHet=3.0103;FS=1.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.511;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=exonic;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPB7:NM_001349683:exon3:c.T363C:p.T121T,HSPB7:NM_001349685:exon3:c.T333C:p.T111T,HSPB7:NM_001349687:exon3:c.T336C:p.T112T,HSPB7:NM_001349688:exon3:c.T348C:p.T116T,HSPB7:NM_001349689:exon3:c.T366C:p.T122T,HSPB7:NM_014424:exon3:c.T351C:p.T117T,HSPB7:NM_001349682:exon4:c.T576C:p.T192T;Gencode=Name\x3eENST00000487046.1,ENST00000311890.13,ENST00000406363.2,ENST00000375718.4,ENST00000411503.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1739840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.4582;1000g2015aug_all=0.652556;esp6500siv2_all=0.6230;ExAC_ALL=0.5938;ExAC_AFR=0.7044;ExAC_AMR=0.3760;ExAC_EAS=0.7423;ExAC_FIN=0.5752;ExAC_NFE=0.5930;ExAC_OTH=0.6024;ExAC_SAS=0.6121;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,19:38:99:509,0,475 1 16342350 rs761759 A T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.816;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=intronic;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375718.4,ENST00000406363.2,ENST00000411503.5,ENST00000311890.13,ENST00000487046.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs761759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.4582;1000g2015aug_all=0.652756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 16343297 rs1763597 C T 104.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.18;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=intronic;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375718.4,ENST00000406363.2,ENST00000411503.5,ENST00000311890.13,ENST00000487046.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"31407:(CCCTCAAG)n(Simple_repeat)";avsnp150=rs1763597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.4582;1000g2015aug_all=0.652955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:132,9,0 1 16343322 rs1739844 T C 129.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=intronic;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000487046.1,ENST00000411503.5,ENST00000375718.4,ENST00000406363.2,ENST00000311890.13;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1739844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.4582;1000g2015aug_all=0.652955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:158,0,27 1 16343835 rs1763596 C T 134.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.231;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.93;ReadPosRankSum=0.805;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=intronic;Gene=NM_001349682,NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000487046.1,ENST00000311890.13,ENST00000411503.5,ENST00000406363.2,ENST00000375718.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1763596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.4568;1000g2015aug_all=0.650559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:163,0,409 1 16344360 rs732286 A G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.95;DP=39;ExcessHet=3.0103;FS=1.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=0.6;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=exonic;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A;Gencode=Name\x3eENST00000311890.13,ENST00000411503.5,ENST00000406363.2,ENST00000375718.4,ENST00000487046.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs732286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.4553;1000g2015aug_all=0.648962;esp6500siv2_all=0.6181;ExAC_ALL=0.5893;ExAC_AFR=0.6905;ExAC_AMR=0.3768;ExAC_EAS=0.7401;ExAC_FIN=0.5837;ExAC_NFE=0.5903;ExAC_OTH=0.5979;ExAC_SAS=0.5926;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,14:39:99:331,0,616 1 16344402 rs945416 G A 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.227;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.598;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=exonic;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPB7:NM_001349683:exon1:c.C57T:p.S19S,HSPB7:NM_001349685:exon1:c.C57T:p.S19S,HSPB7:NM_001349686:exon1:c.C57T:p.S19S,HSPB7:NM_001349687:exon1:c.C57T:p.S19S,HSPB7:NM_001349688:exon1:c.C57T:p.S19S,HSPB7:NM_001349689:exon1:c.C57T:p.S19S,HSPB7:NM_014424:exon1:c.C57T:p.S19S;Gencode=Name\x3eENST00000375718.4,ENST00000406363.2,ENST00000411503.5,ENST00000311890.13,ENST00000487046.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e181\x3bName\x3e"31409:L3(LINE)";avsnp150=rs945416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.4553;1000g2015aug_all=0.648962;esp6500siv2_all=0.6174;ExAC_ALL=0.5885;ExAC_AFR=0.6896;ExAC_AMR=0.3758;ExAC_EAS=0.7420;ExAC_FIN=0.5779;ExAC_NFE=0.5900;ExAC_OTH=0.5978;ExAC_SAS=0.5908;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:410,0,676 1 16344494 rs1572381 G A 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.182;DP=24;ExcessHet=3.0103;FS=3.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.736;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR5;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349683:c.-36C>T\x3bNM_001349685:c.-36C>T\x3bNM_001349686:c.-36C>T\x3bNM_001349687:c.-36C>T\x3bNM_001349688:c.-36C>T\x3bNM_001349689:c.-36C>T\x3bNM_014424:c.-36C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000411503.5,ENST00000375718.4,ENST00000406363.2,ENST00000311890.13,ENST00000487046.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1572381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.4553;1000g2015aug_all=0.648363;esp6500siv2_all=0.6170;ExAC_ALL=0.5973;ExAC_AFR=0.6960;ExAC_AMR=0.3883;ExAC_EAS=0.7456;ExAC_FIN=0.5901;ExAC_NFE=0.5999;ExAC_OTH=0.6044;ExAC_SAS=0.5990;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,8:24:99:228,0,453 1 16344625 rs945417 C G 228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.203;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.423;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR5;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349683:c.-167G>C\x3bNM_001349685:c.-167G>C\x3bNM_001349686:c.-167G>C\x3bNM_001349687:c.-167G>C\x3bNM_001349688:c.-167G>C\x3bNM_001349689:c.-167G>C\x3bNM_014424:c.-167G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311890.13,ENST00000375718.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.451;1000g2015aug_all=0.648163;esp6500siv2_all=.;ExAC_ALL=0.5752;ExAC_AFR=0.7371;ExAC_AMR=0.4560;ExAC_EAS=0.7624;ExAC_FIN=0.6086;ExAC_NFE=0.5615;ExAC_OTH=0.6059;ExAC_SAS=0.5530;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:257,0,215 1 16344730 rs945418 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR5;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349683:c.-272A>G\x3bNM_001349685:c.-272A>G\x3bNM_001349686:c.-272A>G\x3bNM_001349687:c.-272A>G\x3bNM_001349688:c.-272A>G\x3bNM_001349689:c.-272A>G\x3bNM_014424:c.-272A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311890.13,ENST00000375718.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.683;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.6009;1000g2015aug_all=0.748802;esp6500siv2_all=.;ExAC_ALL=0.6451;ExAC_AFR=0.7535;ExAC_AMR=0.5690;ExAC_EAS=0.9591;ExAC_FIN=0.7885;ExAC_NFE=0.6490;ExAC_OTH=0.6479;ExAC_SAS=0.6157;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 16344827 rs1056207 G A 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR5;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349683:c.-369C>T\x3bNM_001349685:c.-369C>T\x3bNM_001349686:c.-369C>T\x3bNM_001349687:c.-369C>T\x3bNM_001349688:c.-369C>T\x3bNM_001349689:c.-369C>T\x3bNM_014424:c.-369C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311890.13,ENST00000375718.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.049;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 16344858 rs945419 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPB7;Func=UTR5;Gene=NM_001349683,NM_001349685,NM_001349686,NM_001349687,NM_001349688,NM_001349689,NM_014424;GeneDetail=NM_001349683:c.-400G>A\x3bNM_001349685:c.-400G>A\x3bNM_001349686:c.-400G>A\x3bNM_001349687:c.-400G>A\x3bNM_001349688:c.-400G>A\x3bNM_001349689:c.-400G>A\x3bNM_014424:c.-400G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375718.4,ENST00000311890.13;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.4452;1000g2015aug_all=0.638578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16345619 rs945422 T C 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=1.437;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001349682;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375718.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.4524;1000g2015aug_all=0.657348;esp6500siv2_all=.;ExAC_ALL=0.5969;ExAC_AFR=0.7405;ExAC_AMR=0.4416;ExAC_EAS=0.7676;ExAC_FIN=0.5865;ExAC_NFE=0.5628;ExAC_OTH=0.6377;ExAC_SAS=0.5937;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,106 1 16349460 rs9442214 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.31;MQRankSum=-0.967;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs9442214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.684;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.598;1000g2015aug_all=0.743411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 16350028 rs2017583 A G 34.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs2017583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.684;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.598;1000g2015aug_all=0.743411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:63,0,21 1 16350123 rs2017577 C G 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs2017577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.7201;1000g2015aug_amr=0.4467;1000g2015aug_all=0.642971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,180 1 16350262 rs1537803 A G 491.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.343;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.632;SOR=0.757;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs1537803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0535144;esp6500siv2_all=0.0920;ExAC_ALL=0.0784;ExAC_AFR=0.0899;ExAC_AMR=0.0364;ExAC_EAS=0.0027;ExAC_FIN=0.1351;ExAC_NFE=0.0967;ExAC_OTH=0.0922;ExAC_SAS=0.0435;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,21:51:99:520,0,775 1 16351275 rs10927887 A G 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-1.465;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs10927887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.7201;1000g2015aug_amr=0.4467;1000g2015aug_all=0.642971;esp6500siv2_all=0.6009;ExAC_ALL=0.5636;ExAC_AFR=0.7042;ExAC_AMR=0.3644;ExAC_EAS=0.7458;ExAC_FIN=0.5317;ExAC_NFE=0.5580;ExAC_OTH=0.5642;ExAC_SAS=0.5549;SIFT_score=0.389;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.728;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.385;MutationAssessor_pred=L;FATHMM_score=-3.05;FATHMM_pred=D;phyloP100way_vertebrate=0.107;phyloP20way_mammalian=-1.287;SiPhy_29way_logOdds=7.321;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,192 1 16353400 rs9442216 T C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.652;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs9442216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.68;1000g2015aug_eur=0.675;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.5994;1000g2015aug_all=0.751198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,104 1 16354590 rs12126269 A T 181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=0;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001257139:exon9:c.A815T:p.Y272F,CLCNKA:NM_001042704:exon10:c.A944T:p.Y315F,CLCNKA:NM_004070:exon10:c.A944T:p.Y315F;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12126269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.196;1000g2015aug_all=0.154553;esp6500siv2_all=0.1878;ExAC_ALL=0.2070;ExAC_AFR=0.1334;ExAC_AMR=0.2554;ExAC_EAS=0.2278;ExAC_FIN=0.3319;ExAC_NFE=0.2171;ExAC_OTH=0.2373;ExAC_SAS=0.1162;SIFT_score=0.818;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.480;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.47;MutationAssessor_pred=N;FATHMM_score=-1.77;FATHMM_pred=D;phyloP100way_vertebrate=1.637;phyloP20way_mammalian=-0.059;SiPhy_29way_logOdds=4.967;gerp++gt2=2.18;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:210,0,341 1 16354958 rs12138073 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12138073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 16354964 rs12130496 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12130496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 16355525 rs7366320 G A 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.835;DP=20;ExcessHet=3.0103;FS=6.043;MLEAC=1;MLEAF=0.5;MQ=59.16;MQRankSum=-1.875;QD=3.34;ReadPosRankSum=0.095;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e376\x3bName\x3e"31431:MIRb(SINE)";avsnp150=rs7366320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,4:20:95:95,0,470 1 16355877 rs34398185 G A 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=2.26;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs34398185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:111,0,145 1 16356187 rs1972359 C T 383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.422;DP=36;ExcessHet=3.0103;FS=5.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-1.274;SOR=0.194;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs1972359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=0.0923;ExAC_ALL=0.0783;ExAC_AFR=0.0898;ExAC_AMR=0.0360;ExAC_EAS=0.0025;ExAC_FIN=0.1337;ExAC_NFE=0.0966;ExAC_OTH=0.0949;ExAC_SAS=0.0434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:412,0,625 1 16356497 rs7411607 C G 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.02;DP=34;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.781;SOR=0.988;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKA:NM_001257139:exon13:c.C1206G:p.A402A,CLCNKA:NM_001042704:exon14:c.C1335G:p.A445A,CLCNKA:NM_004070:exon14:c.C1335G:p.A445A;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs7411607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=0.0880;ExAC_ALL=0.0781;ExAC_AFR=0.0899;ExAC_AMR=0.0360;ExAC_EAS=0.0025;ExAC_FIN=0.1333;ExAC_NFE=0.0964;ExAC_OTH=0.0911;ExAC_SAS=0.0433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:573,0,2550 1 16356501 rs1805152 G A 538.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.408;DP=35;ExcessHet=3.0103;FS=1.344;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.65;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs1805152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.4467;1000g2015aug_all=0.648562;esp6500siv2_all=0.6013;ExAC_ALL=0.5612;ExAC_AFR=0.7221;ExAC_AMR=0.3629;ExAC_EAS=0.7457;ExAC_FIN=0.5284;ExAC_NFE=0.5529;ExAC_OTH=0.5601;ExAC_SAS=0.5492;SIFT_score=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.019;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=1.55;MutationAssessor_pred=L;FATHMM_score=-3.11;FATHMM_pred=D;phyloP100way_vertebrate=-0.320;phyloP20way_mammalian=-1.817;SiPhy_29way_logOdds=5.676;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:567,0,2810 1 16356522 rs34471231 A G 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.314;DP=30;ExcessHet=3.0103;FS=16.284;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.805;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001257139:exon13:c.A1231G:p.T411A,CLCNKA:NM_001042704:exon14:c.A1360G:p.T454A,CLCNKA:NM_004070:exon14:c.A1360G:p.T454A;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs34471231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=0.0788;ExAC_ALL=0.0778;ExAC_AFR=0.0899;ExAC_AMR=0.0359;ExAC_EAS=0.0025;ExAC_FIN=0.1335;ExAC_NFE=0.0960;ExAC_OTH=0.0921;ExAC_SAS=0.0434;SIFT_score=0.801;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=-1.82;FATHMM_pred=D;phyloP100way_vertebrate=0.181;phyloP20way_mammalian=-0.712;SiPhy_29way_logOdds=2.797;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,12:30:99:447,0,2700 1 16356531 rs35747151 G A 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.558;DP=28;ExcessHet=3.0103;FS=10.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.424;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001257139:exon13:c.G1240A:p.V414I,CLCNKA:NM_001042704:exon14:c.G1369A:p.V457I,CLCNKA:NM_004070:exon14:c.G1369A:p.V457I;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs35747151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=0.0774;ExAC_AFR=0.0892;ExAC_AMR=0.0359;ExAC_EAS=0.0025;ExAC_FIN=0.1323;ExAC_NFE=0.0955;ExAC_OTH=0.0926;ExAC_SAS=0.0434;SIFT_score=0.904;SIFT_pred=T;Polyphen2_HDIV_score=0.048;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.115;Polyphen2_HVAR_pred=B;LRT_score=0.694;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.015;MutationAssessor_pred=N;FATHMM_score=-3.36;FATHMM_pred=D;phyloP100way_vertebrate=0.258;phyloP20way_mammalian=-0.630;SiPhy_29way_logOdds=6.733;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,11:28:99:411,0,2560 1 16356533 rs35154011 T C 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.558;DP=28;ExcessHet=3.0103;FS=10.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.424;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKA:NM_001257139:exon13:c.T1242C:p.V414V,CLCNKA:NM_001042704:exon14:c.T1371C:p.V457V,CLCNKA:NM_004070:exon14:c.T1371C:p.V457V;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs35154011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=0.0774;ExAC_AFR=0.0892;ExAC_AMR=0.0359;ExAC_EAS=0.0025;ExAC_FIN=0.1325;ExAC_NFE=0.0956;ExAC_OTH=0.0926;ExAC_SAS=0.0434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,11:28:99:411,0,2560 1 16356869 rs12729970 C T 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.71;ReadPosRankSum=0.425;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12729970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0539137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,14:18:99:527,0,113 1 16356915 rs12729991 C G 841.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.295;DP=44;ExcessHet=3.0103;FS=10.651;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.569;SOR=3.461;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12729991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0539137;esp6500siv2_all=0.0931;ExAC_ALL=0.0811;ExAC_AFR=0.0983;ExAC_AMR=0.0367;ExAC_EAS=0.0026;ExAC_FIN=0.1443;ExAC_NFE=0.1017;ExAC_OTH=0.0953;ExAC_SAS=0.0436;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:870,0,635 1 16357147 rs12140223 C T 2370.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.59;DP=193;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.7;MQRankSum=0.706;QD=12.35;ReadPosRankSum=-2.147;SOR=0.699;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=exonic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKA:NM_001257139:exon14:c.C1471T:p.R491W,CLCNKA:NM_001042704:exon15:c.C1600T:p.R534W,CLCNKA:NM_004070:exon15:c.C1600T:p.R534W;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12140223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0535144;esp6500siv2_all=0.091;ExAC_ALL=0.0788;ExAC_AFR=0.0897;ExAC_AMR=0.0358;ExAC_EAS=0.0026;ExAC_FIN=0.1337;ExAC_NFE=0.0978;ExAC_OTH=0.0910;ExAC_SAS=0.0435;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.026;Polyphen2_HVAR_pred=B;LRT_score=0.108;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.18;MutationAssessor_pred=N;FATHMM_score=-3.12;FATHMM_pred=D;phyloP100way_vertebrate=-0.206;phyloP20way_mammalian=-1.797;SiPhy_29way_logOdds=5.088;gerp++gt2=.;CADD=1.684;CADD_Phred=14.32;ALLELE_END GT:AD:DP:GQ:PL 0/1:99,93:192:99:2399,0,2657 1 16357448 rs7531325 A G 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.03;MQRankSum=-1.981;QD=5.4;ReadPosRankSum=-1.668;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e367\x3bName\x3e"31434:MIR3(SINE)";avsnp150=rs7531325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.003;1000g2015aug_amr=0.1974;1000g2015aug_all=0.0870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:66:66,0,401 1 16357450 rs7531327 A G 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.43;MQRankSum=-2.1;QD=4.72;ReadPosRankSum=-1.068;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e367\x3bName\x3e"31434:MIR3(SINE)";avsnp150=rs7531327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.3271;1000g2015aug_all=0.145767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:66:66,0,401 1 16358085 rs883867 C A 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.36;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs883867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0537141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:373,0,438 1 16358134 rs2015515 T C 654.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.042;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.073;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs2015515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0537141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,27:61:99:683,0,930 1 16358148 rs2015509 T C 734.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.131;DP=70;ExcessHet=3.0103;FS=2.044;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.225;SOR=0.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs2015509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.682;1000g2015aug_eur=0.669;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.5951;1000g2015aug_all=0.749201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,31:70:99:763,0,1007 1 16358366 rs12141388 C T 400.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.547;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.96;MQRankSum=1.121;QD=16.03;ReadPosRankSum=-1.034;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5,ENST00000439316.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12141388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0785;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0541134;esp6500siv2_all=0.0941;ExAC_ALL=0.0796;ExAC_AFR=0.0905;ExAC_AMR=0.0362;ExAC_EAS=0.0025;ExAC_FIN=0.1350;ExAC_NFE=0.0989;ExAC_OTH=0.0916;ExAC_SAS=0.0436;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:429,0,380 1 16358520 rs12131197 T C 809.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.59;QD=26.16;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e589\x3bName\x3e"31436:MIRb(SINE)";avsnp150=rs12131197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.093;1000g2015aug_amr=0.3818;1000g2015aug_all=0.204673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:838,69,0 1 16358808 rs200100640 G A 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.859;DP=19;ExcessHet=3.0103;FS=5.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.31;SOR=2.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e12\x3bName\x3e"31437:G-rich(Low_complexity)";avsnp150=rs200100640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00219649;esp6500siv2_all=0.0044;ExAC_ALL=0.0048;ExAC_AFR=0.0008;ExAC_AMR=0.0025;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0063;ExAC_OTH=0.0078;ExAC_SAS=0.0069;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:283,0,310 1 16358932 rs10803407 T C 941.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.112;DP=78;ExcessHet=3.0103;FS=3.03;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=2.215;SOR=1.063;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439316.6,ENST00000375692.5,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs10803407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.681;1000g2015aug_eur=0.669;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.5951;1000g2015aug_all=0.749002;esp6500siv2_all=0.6952;ExAC_ALL=0.6882;ExAC_AFR=0.7654;ExAC_AMR=0.5818;ExAC_EAS=0.9709;ExAC_FIN=0.7256;ExAC_NFE=0.6704;ExAC_OTH=0.7029;ExAC_SAS=0.6222;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,38:78:99:970,0,1120 1 16359051 rs10927892 C A 642.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.78;DP=67;ExcessHet=3.0103;FS=2.275;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.173;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs10927892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.4467;1000g2015aug_all=0.648163;esp6500siv2_all=0.1441;ExAC_ALL=0.5610;ExAC_AFR=0.7223;ExAC_AMR=0.3629;ExAC_EAS=0.7454;ExAC_FIN=0.5280;ExAC_NFE=0.5525;ExAC_OTH=0.5604;ExAC_SAS=0.5492;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,27:67:99:671,0,1065 1 16359052 rs10927893 A G 2442.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs10927893;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.8573;1000g2015aug_all=0.763978;esp6500siv2_all=0.8548;ExAC_ALL=0.9230;ExAC_AFR=0.9322;ExAC_AMR=0.9679;ExAC_EAS=0.9998;ExAC_FIN=0.9004;ExAC_NFE=0.9075;ExAC_OTH=0.9273;ExAC_SAS=0.9163;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2471,204,0 1 16359123 rs9442217 A G 314.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.966;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.773;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs9442217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.681;1000g2015aug_eur=0.669;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.5951;1000g2015aug_all=0.749002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:343,0,296 1 16359176 rs35881888 C T 136.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-1.2;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375692.5,ENST00000439316.6,ENST00000331433.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs35881888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:165,0,140 1 16359468 rs34241679 T G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.464;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs34241679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 16359951 rs12746443 C T 32.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=intronic;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000439316.6,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12746443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0537141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:61,0,33 1 16360279 rs12132442 A G 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.615;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=49.76;MQRankSum=0.243;QD=16.37;ReadPosRankSum=-2.028;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKA;Func=UTR3;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=NM_001042704:c.*126A>G\x3bNM_001257139:c.*126A>G\x3bNM_004070:c.*126A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331433.4,ENST00000375692.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs12132442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0573083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:241,0,211 1 16360550 rs7365925 C G 649.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.603;DP=55;ExcessHet=3.0103;FS=3.85;MLEAC=1;MLEAF=0.5;MQ=53.76;MQRankSum=-2.841;QD=11.81;ReadPosRankSum=-0.433;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001042704,NM_001257139,NM_004070;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs7365925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.2451;1000g2015aug_amr=0.2882;1000g2015aug_all=0.396366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,21:55:99:678,0,914 1 16361875 rs11807054 A G 831.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.13;QD=33.27;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1330\x3bdist\x3e8356;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs11807054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.9496;1000g2015aug_all=0.9375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:860,75,0 1 16361916 rs11811753 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.55;DP=42;ExcessHet=3.0103;FS=1.227;MLEAC=1;MLEAF=0.5;MQ=51.23;MQRankSum=0.276;QD=10.23;ReadPosRankSum=0.643;SOR=0.418;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1371\x3bdist\x3e8315;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs11811753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,20:42:99:458,0,639 1 16362119 rs2863415 T C 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.678;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.75;MQRankSum=-3.158;QD=8.06;ReadPosRankSum=-0.235;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1574\x3bdist\x3e8112;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e373\x3bName\x3e"31440:MIR3(SINE)";avsnp150=rs2863415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,8:30:99:270,0,3379 1 16362125 rs2863416 G C 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.606;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.01;MQRankSum=-3.304;QD=9.07;ReadPosRankSum=-0.443;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1580\x3bdist\x3e8106;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e373\x3bName\x3e"31440:MIR3(SINE)";avsnp150=rs2863416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,7:27:99:273,0,3301 1 16362128 rs3978490 C T 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.72;MQRankSum=-3.701;QD=7.91;ReadPosRankSum=-0.365;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1583\x3bdist\x3e8103;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e373\x3bName\x3e"31440:MIR3(SINE)";avsnp150=rs3978490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,6:26:99:234,0,3222 1 16362508 rs56131063 G A 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.035;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.57;MQRankSum=-3.725;QD=5.91;ReadPosRankSum=-0.698;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e1963\x3bdist\x3e7723;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e575\x3bName\x3e"31441:MIR(SINE)";avsnp150=rs56131063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,12:49:99:318,0,1305 1 16362561 rs55731534 C G 815.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.203;DP=109;ExcessHet=3.0103;FS=0.858;MLEAC=1;MLEAF=0.5;MQ=54.41;MQRankSum=-2.595;QD=7.55;ReadPosRankSum=-2.005;SOR=0.509;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2016\x3bdist\x3e7670;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e388\x3bName\x3e"31442:MIRc(SINE)";avsnp150=rs55731534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.683;1000g2015aug_eur=0.667;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.5893;1000g2015aug_all=0.746805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,34:108:99:844,0,2184 1 16362621 rs2009044 G A 6163.77 PASS AC=2;AF=1;AN=2;DP=200;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.82;QD=30.97;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2076\x3bdist\x3e7610;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=Score\x3e388\x3bName\x3e"31442:MIRc(SINE)";avsnp150=rs2009044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,199:199:99:6192,594,0 1 16362807 rs4083860 T A 809.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.288;DP=60;ExcessHet=3.0103;FS=1.297;MLEAC=1;MLEAF=0.5;MQ=54.22;MQRankSum=-0.763;QD=13.5;ReadPosRankSum=0.709;SOR=1.003;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2262\x3bdist\x3e7424;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs4083860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,26:60:99:838,0,1118 1 16363132 rs1889787 C T 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.63;MQRankSum=-0.674;QD=10.1;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2587\x3bdist\x3e7099;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs1889787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.1974;1000g2015aug_all=0.163139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:109,0,109 1 16363183 rs78528114 C G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.42;MQRankSum=0.674;QD=9.55;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2638\x3bdist\x3e7048;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs78528114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:59:76,0,59 1 16363243 rs35030434 A G 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.328;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=47.91;MQRankSum=1.465;QD=5.97;ReadPosRankSum=-0.484;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e2698\x3bdist\x3e6988;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs35030434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,112 1 16366234 rs1815526 T G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.86;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e5689\x3bdist\x3e3997;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs1815526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.9409;1000g2015aug_all=0.901558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 16366287 rs2001258 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.83;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001042704,NM_000085;GeneDetail=dist\x3e5742\x3bdist\x3e3944;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16042272;Repeat=.;avsnp150=rs2001258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.0706;1000g2015aug_all=0.10643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 16370899 rs945394 G A 90.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.345;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.292;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs945394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.211;1000g2015aug_amr=0.6787;1000g2015aug_all=0.542931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:119,0,100 1 16371067 rs2015352 G T 431.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.659;DP=43;ExcessHet=3.0103;FS=2.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.967;SOR=0.558;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_000085:exon2:c.G80T:p.R27L;Gencode=Name\x3eENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2015352;cosmic70=.;CLNALLELEID=440382;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.6916;1000g2015aug_all=0.555511;esp6500siv2_all=0.5263;ExAC_ALL=0.6413;ExAC_AFR=0.3297;ExAC_AMR=0.7585;ExAC_EAS=0.6597;ExAC_FIN=0.5866;ExAC_NFE=0.6565;ExAC_OTH=0.6387;ExAC_SAS=0.6965;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.468;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.162;Polyphen2_HVAR_pred=B;LRT_score=0.094;LRT_pred=N;MutationTaster_score=0.882;MutationTaster_pred=P;MutationAssessor_score=2.745;MutationAssessor_pred=M;FATHMM_score=-1.92;FATHMM_pred=D;phyloP100way_vertebrate=0.008;phyloP20way_mammalian=0.926;SiPhy_29way_logOdds=6.147;gerp++gt2=3.16;CADD=4.307;CADD_Phred=24.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,19:43:99:460,0,654 1 16371872 rs6604908 C G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6604908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.6902;1000g2015aug_all=0.566494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 16371932 rs6604909 A C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6604909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.9006;1000g2015aug_all=0.819888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 16372003 rs6604910 G C 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.374;DP=32;ExcessHet=3.0103;FS=1.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-1.291;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6604910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.6902;1000g2015aug_all=0.566494;esp6500siv2_all=0.5211;ExAC_ALL=0.6260;ExAC_AFR=0.2754;ExAC_AMR=0.7491;ExAC_EAS=0.6876;ExAC_FIN=0.5515;ExAC_NFE=0.6379;ExAC_OTH=0.6212;ExAC_SAS=0.7088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,11:32:99:267,0,511 1 16373124 rs5257 A G 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.452;DP=31;ExcessHet=3.0103;FS=1.566;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-2.09;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_000085:exon4:c.A324G:p.S108S;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs5257;cosmic70=.;CLNALLELEID=440387;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.832;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.8487;1000g2015aug_all=0.740415;esp6500siv2_all=0.6722;ExAC_ALL=0.8022;ExAC_AFR=0.3879;ExAC_AMR=0.9074;ExAC_EAS=0.9898;ExAC_FIN=0.7626;ExAC_NFE=0.8104;ExAC_OTH=0.8002;ExAC_SAS=0.8742;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:301,0,447 1 16373282 rs2095540 A G 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.325;DP=29;ExcessHet=3.0103;FS=6.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-0.778;SOR=0.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e237\x3bName\x3e"31456:MIR3(SINE)";avsnp150=rs2095540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.831;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.8487;1000g2015aug_all=0.740016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,20:29:99:510,0,255 1 16374330 rs945403 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs945403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.9121;1000g2015aug_all=0.841454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 16374533 rs2014562 G C 461.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_000085:exon5:c.G492C:p.G164G;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2014562;cosmic70=.;CLNALLELEID=440388;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.9337;1000g2015aug_all=0.89397;esp6500siv2_all=0.8784;ExAC_ALL=0.9298;ExAC_AFR=0.7633;ExAC_AMR=0.9605;ExAC_EAS=0.9997;ExAC_FIN=0.9258;ExAC_NFE=0.9424;ExAC_OTH=0.9292;ExAC_SAS=0.9277;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:490,45,0 1 16374590 rs2282263 C T 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=12;ExcessHet=3.0103;FS=5.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.156;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e12\x3bName\x3e"31461:(CCCA)n(Simple_repeat)";avsnp150=rs2282263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0654952;esp6500siv2_all=0.1172;ExAC_ALL=0.1068;ExAC_AFR=0.1098;ExAC_AMR=0.0444;ExAC_EAS=0.0105;ExAC_FIN=0.1691;ExAC_NFE=0.1357;ExAC_OTH=0.1237;ExAC_SAS=0.0486;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:144,0,105 1 16374622 rs2863440 C G 119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.085;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.241;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2863440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.832;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.8501;1000g2015aug_all=0.740615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:148,0,140 1 16374656 rs2902490 A G 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.047;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=2.194;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e182\x3bName\x3e"31462:L2c(LINE)";avsnp150=rs2902490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.832;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.8487;1000g2015aug_all=0.740216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,341 1 16374972 rs6696349 T G 924.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.862;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.82;MQRankSum=0.039;QD=17.78;ReadPosRankSum=0.019;SOR=0.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6696349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.085;1000g2015aug_all=0.155551;esp6500siv2_all=0.2077;ExAC_ALL=0.1281;ExAC_AFR=0.3804;ExAC_AMR=0.0533;ExAC_EAS=0.0100;ExAC_FIN=0.1637;ExAC_NFE=0.1325;ExAC_OTH=0.1286;ExAC_SAS=0.0531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,31:52:99:953,0,797 1 16374994 rs1889788 C T 491.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.335;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.02;MQRankSum=-0.977;QD=7.45;ReadPosRankSum=0.256;SOR=0.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1889788;cosmic70=.;CLNALLELEID=364523;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.832;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.8487;1000g2015aug_all=0.738618;esp6500siv2_all=.;ExAC_ALL=0.8008;ExAC_AFR=0.3848;ExAC_AMR=0.9066;ExAC_EAS=0.9897;ExAC_FIN=0.7628;ExAC_NFE=0.8082;ExAC_OTH=0.8009;ExAC_SAS=0.8737;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,23:66:99:520,0,1544 1 16375063 rs1889789 C G 3466.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.68;QD=29.14;SOR=0.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_000085:exon7:c.C641G:p.A214G;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1889789;cosmic70=.;CLNALLELEID=496605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.9006;1000g2015aug_all=0.827276;esp6500siv2_all=.;ExAC_ALL=0.9006;ExAC_AFR=0.5633;ExAC_AMR=0.9408;ExAC_EAS=0.9993;ExAC_FIN=0.9213;ExAC_NFE=0.9249;ExAC_OTH=0.9093;ExAC_SAS=0.9250;SIFT_score=0.691;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.21;MutationAssessor_pred=N;FATHMM_score=-2.79;FATHMM_pred=D;phyloP100way_vertebrate=-0.228;phyloP20way_mammalian=-1.186;SiPhy_29way_logOdds=10.130;gerp++gt2=2.71;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:3495,238,0 1 16375064 rs1889790 A C 3466.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.05;QD=32.42;SOR=0.887;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_000085:exon7:c.A642C:p.A214A;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1889790;cosmic70=.;CLNALLELEID=496567;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.9006;1000g2015aug_all=0.827276;esp6500siv2_all=.;ExAC_ALL=0.9006;ExAC_AFR=0.5632;ExAC_AMR=0.9410;ExAC_EAS=0.9993;ExAC_FIN=0.9213;ExAC_NFE=0.9249;ExAC_OTH=0.9091;ExAC_SAS=0.9250;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:3495,238,0 1 16375132 rs12118326 C T 927.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.654;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.93;ReadPosRankSum=0.168;SOR=0.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12118326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0860623;esp6500siv2_all=0.1385;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,32:49:99:956,0,361 1 16375354 rs9442227 C T 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.611;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=1.292;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR5;Gene=NM_001165945;GeneDetail=NM_001165945:c.-113C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e257\x3bName\x3e"31463:MIR(SINE)";avsnp150=rs9442227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.8855;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.8213;1000g2015aug_all=0.727436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:67:67,0,185 1 16375838 rs7545067 C G 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.25;DP=18;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.645;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7545067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:227,0,212 1 16376191 rs34188929 C T 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.14;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_001165945:exon2:c.C353T:p.A118V,CLCNKB:NM_000085:exon9:c.C860T:p.A287V;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs34188929;cosmic70=.;CLNALLELEID=440389;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.9107;1000g2015aug_all=0.829872;esp6500siv2_all=.;ExAC_ALL=0.9096;ExAC_AFR=0.5590;ExAC_AMR=0.9524;ExAC_EAS=0.9986;ExAC_FIN=0.9255;ExAC_NFE=0.9400;ExAC_OTH=0.9187;ExAC_SAS=0.9253;SIFT_score=0.836;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.650;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.35;MutationAssessor_pred=N;FATHMM_score=-3.17;FATHMM_pred=D;phyloP100way_vertebrate=-0.104;phyloP20way_mammalian=-1.270;SiPhy_29way_logOdds=14.819;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 16376232 rs59924562 A T 639.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.48;QD=25.29;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs59924562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.8703;1000g2015aug_all=0.754193;esp6500siv2_all=.;ExAC_ALL=0.8911;ExAC_AFR=0.5151;ExAC_AMR=0.9353;ExAC_EAS=0.9897;ExAC_FIN=0.9064;ExAC_NFE=0.9215;ExAC_OTH=0.9068;ExAC_SAS=0.9158;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:668,45,0 1 16376278 rs7365182 G A 701.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.78;QD=29.24;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7365182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.4856;1000g2015aug_amr=0.9107;1000g2015aug_all=0.827875;esp6500siv2_all=0.8126;ExAC_ALL=0.9106;ExAC_AFR=0.5563;ExAC_AMR=0.9527;ExAC_EAS=0.9998;ExAC_FIN=0.9261;ExAC_NFE=0.9414;ExAC_OTH=0.9207;ExAC_SAS=0.9265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:730,72,0 1 16376319 rs7368151 T C 777.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_001165945:exon3:c.T369C:p.C123C,CLCNKB:NM_000085:exon10:c.T876C:p.C292C;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7368151;cosmic70=.;CLNALLELEID=364524;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.9107;1000g2015aug_all=0.830072;esp6500siv2_all=0.8151;ExAC_ALL=0.9114;ExAC_AFR=0.5638;ExAC_AMR=0.9532;ExAC_EAS=0.9998;ExAC_FIN=0.9262;ExAC_NFE=0.9414;ExAC_OTH=0.9218;ExAC_SAS=0.9267;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:806,75,0 1 16376458 rs7368166 T C 533.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7368166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.9107;1000g2015aug_all=0.830072;esp6500siv2_all=0.8025;ExAC_ALL=0.9088;ExAC_AFR=0.5601;ExAC_AMR=0.9512;ExAC_EAS=0.9983;ExAC_FIN=0.9256;ExAC_NFE=0.9390;ExAC_OTH=0.9209;ExAC_SAS=0.9199;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:562,48,0 1 16376719 rs10754899 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs10754899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.9308;1000g2015aug_all=0.870008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16376953 rs10927895 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.18;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs10927895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0497204;esp6500siv2_all=0.0933;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 16377108 rs35480349 G C 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.886;DP=44;ExcessHet=3.0103;FS=2.716;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=2.428;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs35480349;cosmic70=.;CLNALLELEID=496594;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.3314;1000g2015aug_all=0.16254;esp6500siv2_all=0.1809;ExAC_ALL=0.2314;ExAC_AFR=0.0447;ExAC_AMR=0.3707;ExAC_EAS=0.0113;ExAC_FIN=0.2053;ExAC_NFE=0.2476;ExAC_OTH=0.2273;ExAC_SAS=0.3110;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,15:44:99:346,0,738 1 16377870 rs6650116 C T 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.799;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=0.817;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6650116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:264,0,131 1 16377935 rs6650117 A G 445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.631;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.3;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6650117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.0836;1000g2015aug_all=0.114417;esp6500siv2_all=0.1612;ExAC_ALL=0.1205;ExAC_AFR=0.2190;ExAC_AMR=0.0538;ExAC_EAS=0.0098;ExAC_FIN=0.1453;ExAC_NFE=0.1363;ExAC_OTH=0.1333;ExAC_SAS=0.0883;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,15:28:99:474,0,289 1 16377999 rs6650118 C T 942.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.403;DP=49;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-1.781;QD=19.24;ReadPosRankSum=0;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_001165945:exon6:c.C747T:p.T249T,CLCNKB:NM_000085:exon13:c.C1254T:p.T418T;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6650118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0978435;esp6500siv2_all=0.1313;ExAC_ALL=0.1015;ExAC_AFR=0.2153;ExAC_AMR=0.0455;ExAC_EAS=0.0097;ExAC_FIN=0.1346;ExAC_NFE=0.1150;ExAC_OTH=0.1134;ExAC_SAS=0.0487;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,24:49:99:971,0,973 1 16378000 rs6650119 A G 942.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.259;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-1.744;QD=18.86;ReadPosRankSum=-0.291;SOR=0.553;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_001165945:exon6:c.A748G:p.I250V,CLCNKB:NM_000085:exon13:c.A1255G:p.I419V;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6650119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0982428;esp6500siv2_all=0.1306;ExAC_ALL=0.1015;ExAC_AFR=0.2154;ExAC_AMR=0.0455;ExAC_EAS=0.0097;ExAC_FIN=0.1349;ExAC_NFE=0.1150;ExAC_OTH=0.1134;ExAC_SAS=0.0488;SIFT_score=0.074;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.085;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-3.39;FATHMM_pred=D;phyloP100way_vertebrate=1.242;phyloP20way_mammalian=-0.615;SiPhy_29way_logOdds=6.025;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,25:50:99:971,0,973 1 16378093 rs41269167 A G 1080.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.69;DP=48;ExcessHet=3.0103;FS=1.133;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-1.47;QD=22.52;ReadPosRankSum=0.272;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs41269167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=0.1406;ExAC_ALL=0.1010;ExAC_AFR=0.2133;ExAC_AMR=0.0453;ExAC_EAS=0.0097;ExAC_FIN=0.1346;ExAC_NFE=0.1145;ExAC_OTH=0.1123;ExAC_SAS=0.0488;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,28:48:99:1109,0,1570 1 16378099 rs182734810 G C 1047.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.672;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1.448;QD=23.81;ReadPosRankSum=-0.048;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs182734810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,26:44:99:1076,0,1513 1 16378100 rs576064910 C A 1009.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.125;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1.448;QD=22.95;ReadPosRankSum=-0.048;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs576064910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,26:44:99:1038,0,1516 1 16378215 rs5252 C T 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.179;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.665;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_001165945:exon7:c.C801T:p.I267I,CLCNKB:NM_000085:exon14:c.C1308T:p.I436I;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs5252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=0.1442;ExAC_ALL=0.1016;ExAC_AFR=0.2146;ExAC_AMR=0.0455;ExAC_EAS=0.0098;ExAC_FIN=0.1352;ExAC_NFE=0.1152;ExAC_OTH=0.1126;ExAC_SAS=0.0488;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:487,0,312 1 16378725 rs12140311 A T 1334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.477;DP=86;ExcessHet=3.0103;FS=0.889;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.764;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_001165945:exon8:c.A934T:p.T312S,CLCNKB:NM_000085:exon15:c.A1441T:p.T481S;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12140311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=0.1438;ExAC_ALL=0.1017;ExAC_AFR=0.2157;ExAC_AMR=0.0456;ExAC_EAS=0.0098;ExAC_FIN=0.1350;ExAC_NFE=0.1157;ExAC_OTH=0.1143;ExAC_SAS=0.0488;SIFT_score=0.265;SIFT_pred=T;Polyphen2_HDIV_score=0.069;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=0.437;MutationTaster_pred=P;MutationAssessor_score=0.905;MutationAssessor_pred=L;FATHMM_score=-3.46;FATHMM_pred=D;phyloP100way_vertebrate=0.954;phyloP20way_mammalian=-0.122;SiPhy_29way_logOdds=12.749;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,47:86:99:1363,0,1120 1 16378931 rs56334930 A G 2265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.518;DP=152;ExcessHet=3.0103;FS=7.792;MLEAC=1;MLEAF=0.5;MQ=56.68;MQRankSum=-2.928;QD=14.91;ReadPosRankSum=-0.051;SOR=1.298;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56334930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=0.0848;ExAC_AFR=0.1819;ExAC_AMR=0.0366;ExAC_EAS=0.0079;ExAC_FIN=0.1129;ExAC_NFE=0.0964;ExAC_OTH=0.0944;ExAC_SAS=0.0462;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:89,63:152:99:2294,0,3500 1 16378938 rs532929313 G A 2061.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.6;DP=141;ExcessHet=3.0103;FS=7.065;MLEAC=1;MLEAF=0.5;MQ=57.46;MQRankSum=-2.684;QD=14.62;ReadPosRankSum=1.058;SOR=1.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs532929313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=0.0794;ExAC_AFR=0.1676;ExAC_AMR=0.0346;ExAC_EAS=0.0077;ExAC_FIN=0.1071;ExAC_NFE=0.0900;ExAC_OTH=0.0845;ExAC_SAS=0.0454;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,56:141:99:2090,0,3485 1 16378945 rs56331467 C T 1983.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.15;DP=138;ExcessHet=3.0103;FS=8.81;MLEAC=1;MLEAF=0.5;MQ=57.91;MQRankSum=-2.19;QD=14.38;ReadPosRankSum=1.546;SOR=1.435;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56331467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=0.0770;ExAC_AFR=0.1620;ExAC_AMR=0.0337;ExAC_EAS=0.0074;ExAC_FIN=0.1039;ExAC_NFE=0.0872;ExAC_OTH=0.0810;ExAC_SAS=0.0451;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,53:138:99:2012,0,3407 1 16378951 rs56152056 T C 1908.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.436;DP=133;ExcessHet=3.0103;FS=7.696;MLEAC=1;MLEAF=0.5;MQ=58.34;MQRankSum=-1.96;QD=14.35;ReadPosRankSum=1.525;SOR=1.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56152056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=0.0743;ExAC_AFR=0.1592;ExAC_AMR=0.0324;ExAC_EAS=0.0071;ExAC_FIN=0.0998;ExAC_NFE=0.0838;ExAC_OTH=0.0773;ExAC_SAS=0.0441;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,51:133:99:1937,0,3287 1 16378954 rs56112410 G A 1821.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.923;DP=131;ExcessHet=3.0103;FS=7.729;MLEAC=1;MLEAF=0.5;MQ=58.57;MQRankSum=-2.093;QD=13.91;ReadPosRankSum=1.552;SOR=1.436;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56112410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0748802;esp6500siv2_all=.;ExAC_ALL=0.0661;ExAC_AFR=0.0957;ExAC_AMR=0.0298;ExAC_EAS=0.0071;ExAC_FIN=0.0979;ExAC_NFE=0.0807;ExAC_OTH=0.0694;ExAC_SAS=0.0370;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,50:131:99:1850,0,3314 1 16378980 rs56327038 G C 1071.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.138;DP=85;ExcessHet=3.0103;FS=7.03;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.159;SOR=1.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56327038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.0735;1000g2015aug_all=0.103435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,38:85:99:1100,0,1443 1 16378991 rs56361591 G A 1304.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.317;DP=78;ExcessHet=3.0103;FS=3.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-1.2;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs56361591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.101438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,36:77:99:1333,0,1532 1 16378998 rs55874146 T C 1127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.158;DP=63;ExcessHet=3.0103;FS=2.638;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.9;ReadPosRankSum=-1.6;SOR=1.272;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs55874146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,29:63:99:1156,0,1423 1 16379008 rs2050522 C T 926.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.071;DP=57;ExcessHet=3.0103;FS=1.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.907;SOR=0.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e186\x3bName\x3e"31467:MIR1_Amn(SINE)";avsnp150=rs2050522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.84;1000g2015aug_afr=0.3396;1000g2015aug_amr=0.8559;1000g2015aug_all=0.749201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,31:57:99:955,0,999 1 16379052 rs55921124 C G 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.699;DP=30;ExcessHet=3.0103;FS=2.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.951;SOR=1.692;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e186\x3bName\x3e"31467:MIR1_Amn(SINE)";avsnp150=rs55921124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0776757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,9:30:99:274,0,714 1 16380196 rs5253 T C 2432.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.17;QD=32.44;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_001165945:exon9:c.T1178C:p.M393T,CLCNKB:NM_000085:exon16:c.T1685C:p.M562T;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs5253;cosmic70=.;CLNALLELEID=440394;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.91;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.646;1000g2015aug_amr=0.9179;1000g2015aug_all=0.838259;esp6500siv2_all=0.8882;ExAC_ALL=0.9310;ExAC_AFR=0.6908;ExAC_AMR=0.9539;ExAC_EAS=0.8081;ExAC_FIN=0.9356;ExAC_NFE=0.9802;ExAC_OTH=0.9302;ExAC_SAS=0.9302;SIFT_score=0.872;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.986;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.935;MutationAssessor_pred=N;FATHMM_score=-3.01;FATHMM_pred=D;phyloP100way_vertebrate=-1.338;phyloP20way_mammalian=-2.268;SiPhy_29way_logOdds=7.111;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2461,225,0 1 16380243 rs2275166 A G 1088.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.179;DP=46;ExcessHet=3.0103;FS=4.596;MLEAC=1;MLEAF=0.5;MQ=57.43;MQRankSum=-3.142;QD=23.67;ReadPosRankSum=-0.529;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCNKB:NM_001165945:exon9:c.A1225G:p.K409E,CLCNKB:NM_000085:exon16:c.A1732G:p.K578E;Gencode=Name\x3eENST00000619181.4,ENST00000375667.7,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2275166;cosmic70=.;CLNALLELEID=440395;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.82;1000g2015aug_amr=0.5519;1000g2015aug_all=0.701677;esp6500siv2_all=0.7008;ExAC_ALL=0.6586;ExAC_AFR=0.7960;ExAC_AMR=0.5059;ExAC_EAS=0.7950;ExAC_FIN=0.7429;ExAC_NFE=0.6569;ExAC_OTH=0.6563;ExAC_SAS=0.5812;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.645;MutationAssessor_pred=N;FATHMM_score=-3.2;FATHMM_pred=D;phyloP100way_vertebrate=1.012;phyloP20way_mammalian=-0.813;SiPhy_29way_logOdds=5.304;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,28:46:99:1117,0,658 1 16380252 rs2275167 C T 1058.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.609;DP=41;ExcessHet=3.0103;FS=10.643;MLEAC=1;MLEAF=0.5;MQ=56.73;MQRankSum=-3.192;QD=25.82;ReadPosRankSum=-1.178;SOR=2.281;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=exonic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCNKB:NM_001165945:exon9:c.C1234T:p.L412L,CLCNKB:NM_000085:exon16:c.C1741T:p.L581L;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2275167;cosmic70=.;CLNALLELEID=440396;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.5734;1000g2015aug_amr=0.5;1000g2015aug_all=0.613618;esp6500siv2_all=0.6113;ExAC_ALL=0.6210;ExAC_AFR=0.5802;ExAC_AMR=0.4817;ExAC_EAS=0.7899;ExAC_FIN=0.7272;ExAC_NFE=0.6427;ExAC_OTH=0.6189;ExAC_SAS=0.5269;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,26:41:99:1087,0,546 1 16380337 rs41269173 G A 273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.708;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.72;MQRankSum=-3.947;QD=14.41;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31473:MIRb(SINE)";avsnp150=rs41269173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.0922;1000g2015aug_all=0.0846645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:302,0,326 1 16380393 rs35708002 G A 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.15;MQRankSum=-2.823;QD=11.38;ReadPosRankSum=-0.712;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31473:MIRb(SINE)";avsnp150=rs35708002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0942492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:142,0,240 1 16380403 rs2275168 A T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.16;MQRankSum=-2.515;QD=8.86;ReadPosRankSum=-0.12;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31473:MIRb(SINE)";avsnp150=rs2275168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.4568;1000g2015aug_all=0.52476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:99:108,0,243 1 16380488 rs7414959 G A 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.41;MQRankSum=0.842;QD=9.55;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7414959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.4568;1000g2015aug_all=0.525559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:76,0,69 1 16381718 rs1414498 T C 445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.714;DP=23;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.217;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1414498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.7853;1000g2015aug_all=0.721246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:474,0,314 1 16382877 rs7517792 A G 604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.082;DP=44;ExcessHet=3.0103;FS=1.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.085;SOR=0.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7517792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.8069;1000g2015aug_all=0.784145;esp6500siv2_all=0.7620;ExAC_ALL=0.7931;ExAC_AFR=0.7097;ExAC_AMR=0.8914;ExAC_EAS=0.8073;ExAC_FIN=0.6871;ExAC_NFE=0.7861;ExAC_OTH=0.7777;ExAC_SAS=0.8407;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,17:44:99:633,0,1650 1 16382880 rs7512547 T A 642.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.378;DP=44;ExcessHet=3.0103;FS=2.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.454;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs7512547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.379;1000g2015aug_amr=0.415;1000g2015aug_all=0.295128;esp6500siv2_all=0.3085;ExAC_ALL=0.2957;ExAC_AFR=0.3498;ExAC_AMR=0.4611;ExAC_EAS=0.0084;ExAC_FIN=0.1610;ExAC_NFE=0.2875;ExAC_OTH=0.2854;ExAC_SAS=0.3842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:671,0,1647 1 16383112 rs190382742 G A 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.605;DP=11;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=58.53;MQRankSum=0.748;QD=16.07;ReadPosRankSum=0.525;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs190382742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:205,0,176 1 16383267 rs12728542 A G 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.471;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.63;MQRankSum=0;QD=8.56;ReadPosRankSum=0.901;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12728542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.402;1000g2015aug_all=0.251797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,215 1 16383336 rs12746138 G C 61.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.086;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.76;MQRankSum=-2.778;QD=4.41;ReadPosRankSum=-1.25;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12746138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8214;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.7666;1000g2015aug_all=0.714657;esp6500siv2_all=.;ExAC_ALL=0.6138;ExAC_AFR=0.3529;ExAC_AMR=0.7638;ExAC_EAS=0.6094;ExAC_FIN=0.4436;ExAC_NFE=0.6143;ExAC_OTH=0.6178;ExAC_SAS=0.7535;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,3:14:90:90,0,634 1 16383348 rs61769892 C T 58.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.015;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.85;MQRankSum=-2.744;QD=3.67;ReadPosRankSum=-0.135;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=intronic;Gene=NM_000085,NM_001165945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs61769892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.402;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=0.2928;ExAC_AFR=0.2023;ExAC_AMR=0.4750;ExAC_EAS=0.0096;ExAC_FIN=0.1697;ExAC_NFE=0.2954;ExAC_OTH=0.2793;ExAC_SAS=0.3937;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,3:16:87:87,0,656 1 16383448 rs10803415 A C 975.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.99;QD=29.57;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*37A>C\x3bNM_001165945:c.*37A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs10803415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9265;1000g2015aug_all=0.900958;esp6500siv2_all=.;ExAC_ALL=0.9401;ExAC_AFR=0.9163;ExAC_AMR=0.9577;ExAC_EAS=0.7985;ExAC_FIN=0.9109;ExAC_NFE=0.9685;ExAC_OTH=0.9267;ExAC_SAS=0.9141;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1004,99,0 1 16383515 rs12402924 C T 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.563;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45;MQRankSum=-3.326;QD=10.25;ReadPosRankSum=0.455;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*104C>T\x3bNM_001165945:c.*104C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000619181.4,ENST00000375667.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12402924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.3977;1000g2015aug_all=0.249601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:223,0,324 1 16383581 rs1057844 G T 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.66;MQRankSum=0.271;QD=12.45;ReadPosRankSum=-1.278;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*170G>T\x3bNM_001165945:c.*170G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1057844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:215,0,353 1 16383605 rs1057845 A G 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.81;DP=16;ExcessHet=3.0103;FS=2.933;MLEAC=1;MLEAF=0.5;MQ=41.88;MQRankSum=1.23;QD=8.67;ReadPosRankSum=0.227;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*194A>G\x3bNM_001165945:c.*194A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1057845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:167,0,438 1 16383668 rs6660218 T G 1225.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.17;QD=31.43;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*257T>G\x3bNM_001165945:c.*257T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375667.7,ENST00000619181.4,ENST00000375679.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs6660218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=0.9999;ExAC_AFR=0.9990;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1254,117,0 1 16383742 rs1057857 C G 1979.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-1.094;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.2;MQRankSum=2.188;QD=29.55;ReadPosRankSum=1.526;SOR=0.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*331C>G\x3bNM_001165945:c.*331C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375679.8,ENST00000375667.7,ENST00000619181.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1057857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.6207;ExAC_AFR=0.5884;ExAC_AMR=0.6741;ExAC_EAS=0.4944;ExAC_FIN=0.6121;ExAC_NFE=0.6400;ExAC_OTH=0.6139;ExAC_SAS=0.6190;SIFT_score=0.106;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.15;FATHMM_pred=T;phyloP100way_vertebrate=-0.361;phyloP20way_mammalian=0.884;SiPhy_29way_logOdds=6.643;gerp++gt2=2.26;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,66:67:99:2008,123,0 1 16383808 rs28690440 G C 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.394;DP=60;ExcessHet=3.0103;FS=6.168;MLEAC=1;MLEAF=0.5;MQ=54.31;MQRankSum=-1.37;QD=5.4;ReadPosRankSum=-1.563;SOR=1.577;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCNKB;Func=UTR3;Gene=NM_000085,NM_001165945;GeneDetail=NM_000085:c.*397G>C\x3bNM_001165945:c.*397G>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs28690440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2550;ExAC_AFR=0.1960;ExAC_AMR=0.3514;ExAC_EAS=0.0121;ExAC_FIN=0.075;ExAC_NFE=0.2556;ExAC_OTH=0.2042;ExAC_SAS=0.2867;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,16:60:99:352,0,1236 1 16383974 rs12144211 G T 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.336;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.42;MQRankSum=-2.616;QD=19.94;ReadPosRankSum=-0.55;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000085,NM_001165945,NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs12144211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.1297;1000g2015aug_all=0.148363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:407,0,235 1 16385131 rs1832151 C A 654.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.737;DP=67;ExcessHet=3.0103;FS=0.944;MLEAC=1;MLEAF=0.5;MQ=49.93;MQRankSum=2.174;QD=9.77;ReadPosRankSum=-0.219;SOR=0.852;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=exonic;Gene=NM_182623;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM131C:NM_182623:exon7:c.G644T:p.S215I;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs1832151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2474;ExAC_AFR=0.3745;ExAC_AMR=0.2214;ExAC_EAS=0.0004;ExAC_FIN=0.3698;ExAC_NFE=0.2793;ExAC_OTH=0.2386;ExAC_SAS=0.1308;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.078;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.109;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.55;FATHMM_pred=T;phyloP100way_vertebrate=0.457;phyloP20way_mammalian=0.802;SiPhy_29way_logOdds=7.437;gerp++gt2=3.53;CADD=2.136;CADD_Phred=17.09;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,26:67:99:683,0,1011 1 16385323 rs77017249 A G 319.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.876;DP=34;ExcessHet=3.0103;FS=1.654;MLEAC=1;MLEAF=0.5;MQ=56.07;MQRankSum=-5.622;QD=9.4;ReadPosRankSum=-0.813;SOR=1.259;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e319\x3bName\x3e"31481:MIR3(SINE)";avsnp150=rs77017249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,10:34:99:348,0,896 1 16385330 rs3978476 G T 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.36;MQRankSum=-5.13;QD=11.54;ReadPosRankSum=-2.548;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e319\x3bName\x3e"31481:MIR3(SINE)";avsnp150=rs3978476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,10:29:99:363,0,768 1 16385612 rs7535126 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31482:MIR(SINE)";avsnp150=rs7535126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16385698 rs2019460 A G 390.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.9;QD=32.56;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31482:MIR(SINE)";avsnp150=rs2019460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.938;1000g2015aug_all=0.928714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:419,36,0 1 16385762 rs138040686 G A 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.389;DP=41;ExcessHet=3.0103;FS=2.241;MLEAC=1;MLEAF=0.5;MQ=51.43;MQRankSum=-2.238;QD=2.85;ReadPosRankSum=0.425;SOR=0.192;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31482:MIR(SINE)";avsnp150=rs138040686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,9:41:99:145,0,1380 1 16385768 rs10927897 G A 890.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.003;DP=52;ExcessHet=3.0103;FS=2.954;MLEAC=1;MLEAF=0.5;MQ=51.1;MQRankSum=4.78;QD=17.13;ReadPosRankSum=0.535;SOR=1.288;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e582\x3bName\x3e"31482:MIR(SINE)";avsnp150=rs10927897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.469;1000g2015aug_amr=0.1686;1000g2015aug_all=0.242612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,29:52:99:919,0,689 1 16385797 rs3978478 C G 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54;MQRankSum=-3.041;QD=5.58;ReadPosRankSum=-1.883;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e414\x3bName\x3e"31483:MIRb(SINE)";avsnp150=rs3978478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,21:75:99:447,0,1509 1 16385815 rs2019456 G C 518.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.29;MQRankSum=-2.618;QD=6.03;ReadPosRankSum=-1.232;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e414\x3bName\x3e"31483:MIRb(SINE)";avsnp150=rs2019456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,25:86:99:547,0,1749 1 16385980 rs3884058 G A 1435.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.248;DP=107;ExcessHet=3.0103;FS=11.72;MLEAC=1;MLEAF=0.5;MQ=59.73;MQRankSum=-0.496;QD=13.54;ReadPosRankSum=1.64;SOR=0.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=Score\x3e414\x3bName\x3e"31483:MIRb(SINE)";avsnp150=rs3884058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.816;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.7695;1000g2015aug_all=0.715056;esp6500siv2_all=0.6771;ExAC_ALL=0.7421;ExAC_AFR=0.4997;ExAC_AMR=0.8582;ExAC_EAS=0.8065;ExAC_FIN=0.6644;ExAC_NFE=0.7443;ExAC_OTH=0.7410;ExAC_SAS=0.7908;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,56:106:99:1464,0,1429 1 16386008 rs2863452 T C 1448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.793;DP=90;ExcessHet=3.0103;FS=3.264;MLEAC=1;MLEAF=0.5;MQ=57.79;MQRankSum=-1.196;QD=16.1;ReadPosRankSum=-0.301;SOR=0.357;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=exonic;Gene=NM_182623;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM131C:NM_182623:exon6:c.A543G:p.Q181Q;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2863452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.817;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.7709;1000g2015aug_all=0.721645;esp6500siv2_all=.;ExAC_ALL=0.7498;ExAC_AFR=0.5244;ExAC_AMR=0.8697;ExAC_EAS=0.8142;ExAC_FIN=0.6546;ExAC_NFE=0.7482;ExAC_OTH=0.7417;ExAC_SAS=0.8064;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,54:90:99:1477,0,901 1 16386247 rs2095543 T C 172.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.62;QD=28.81;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2095543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.9323;1000g2015aug_all=0.916733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:201,18,0 1 16386416 rs9442230 G A 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.912;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.39;MQRankSum=-0.429;QD=10.53;ReadPosRankSum=-0.922;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=exonic;Gene=NM_182623;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM131C:NM_182623:exon5:c.C399T:p.D133D;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs9442230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.7584;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.768;1000g2015aug_all=0.710463;esp6500siv2_all=0.6852;ExAC_ALL=0.7488;ExAC_AFR=0.5129;ExAC_AMR=0.8702;ExAC_EAS=0.8056;ExAC_FIN=0.6472;ExAC_NFE=0.7494;ExAC_OTH=0.7367;ExAC_SAS=0.8073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,15:28:99:323,0,357 1 16386447 rs11576236 G C 737.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.1;QD=29.51;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=exonic;Gene=NM_182623;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM131C:NM_182623:exon5:c.C368G:p.P123R;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs11576236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.9337;1000g2015aug_all=0.915935;esp6500siv2_all=.;ExAC_ALL=0.9500;ExAC_AFR=0.9436;ExAC_AMR=0.9606;ExAC_EAS=0.7949;ExAC_FIN=0.9262;ExAC_NFE=0.9777;ExAC_OTH=0.93;ExAC_SAS=0.9271;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.666;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.625;MutationAssessor_pred=N;FATHMM_score=1.61;FATHMM_pred=T;phyloP100way_vertebrate=-0.497;phyloP20way_mammalian=-0.987;SiPhy_29way_logOdds=6.609;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:766,75,0 1 16388534 rs2863454 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.368;DP=29;ExcessHet=3.0103;FS=6.237;MLEAC=1;MLEAF=0.5;MQ=51.4;MQRankSum=-3.818;QD=7.72;ReadPosRankSum=-1.025;SOR=1.838;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2863454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.3934;1000g2015aug_all=0.236422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,8:29:99:252,0,1012 1 16388556 rs2863455 C T 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.39;DP=32;ExcessHet=3.0103;FS=3.526;MLEAC=1;MLEAF=0.5;MQ=52.27;MQRankSum=-4.219;QD=8.77;ReadPosRankSum=-0.168;SOR=1.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2863455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.7305;1000g2015aug_all=0.640176;esp6500siv2_all=0.5441;ExAC_ALL=0.6817;ExAC_AFR=0.3392;ExAC_AMR=0.8339;ExAC_EAS=0.7862;ExAC_FIN=0.5944;ExAC_NFE=0.6903;ExAC_OTH=0.6536;ExAC_SAS=0.7215;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,9:32:99:309,0,1096 1 16388580 rs3978467 C T 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.154;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.98;MQRankSum=-4.432;QD=9.08;ReadPosRankSum=1.292;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs3978467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.3833;1000g2015aug_all=0.222045;esp6500siv2_all=.;ExAC_ALL=0.2312;ExAC_AFR=0.1699;ExAC_AMR=0.4140;ExAC_EAS=0.0083;ExAC_FIN=0.1028;ExAC_NFE=0.2320;ExAC_OTH=0.2125;ExAC_SAS=0.3065;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,10:33:99:328,0,837 1 16388646 rs2863456 T C 648.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.422;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=53.43;MQRankSum=-2.918;QD=17.53;ReadPosRankSum=0.848;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=exonic;Gene=NM_182623;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM131C:NM_182623:exon4:c.A216G:p.R72R;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs2863456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.8588;1000g2015aug_all=0.816693;esp6500siv2_all=0.8218;ExAC_ALL=0.8516;ExAC_AFR=0.7235;ExAC_AMR=0.9126;ExAC_EAS=0.8321;ExAC_FIN=0.7969;ExAC_NFE=0.8664;ExAC_OTH=0.8180;ExAC_SAS=0.8579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,26:37:99:677,0,281 1 16388709 rs28570004 G T 459.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.667;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.39;MQRankSum=-2.954;QD=17.03;ReadPosRankSum=-0.452;SOR=0.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs28570004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.41;1000g2015aug_amr=0.4078;1000g2015aug_all=0.465655;esp6500siv2_all=0.5484;ExAC_ALL=0.5091;ExAC_AFR=0.4374;ExAC_AMR=0.4421;ExAC_EAS=0.5843;ExAC_FIN=0.5523;ExAC_NFE=0.5214;ExAC_OTH=0.5128;ExAC_SAS=0.4913;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:488,0,234 1 16388737 rs3978468 G A 137.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.777;DP=22;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=55.37;MQRankSum=-1.804;QD=6.26;ReadPosRankSum=-1.093;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs3978468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.2901;ExAC_ALL=0.2895;ExAC_AFR=0.3503;ExAC_AMR=0.4683;ExAC_EAS=0.0090;ExAC_FIN=0.1665;ExAC_NFE=0.2829;ExAC_OTH=0.2812;ExAC_SAS=0.3615;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:166,0,465 1 16388766 rs3978469 C T 284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.113;DP=15;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=54.16;MQRankSum=-2.531;QD=18.98;ReadPosRankSum=0;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM131C;Func=intronic;Gene=NM_182623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375662.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.908085\x3bName\x3echr1:16020437;Repeat=.;avsnp150=rs3978469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.817;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.5847;1000g2015aug_amr=0.8271;1000g2015aug_all=0.750799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:313,0,162 1 16427368 rs61769917 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e27241\x3bdist\x3e23464;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2177\x3bName\x3e"31596:AluSx(SINE)";avsnp150=rs61769917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.2853;1000g2015aug_all=0.196286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 16427369 rs61769918 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e27242\x3bdist\x3e23463;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2177\x3bName\x3e"31596:AluSx(SINE)";avsnp150=rs61769918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.2853;1000g2015aug_all=0.196086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 16430707 rs28789197 T C 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.55;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.516;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e30580\x3bdist\x3e20125;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14620\x3bName\x3e"31605:HERVK9-int(LTR)";avsnp150=rs28789197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.4669;1000g2015aug_all=0.506789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:223,0,249 1 16430773 rs61769926 T C 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.658;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.65;ReadPosRankSum=-0.233;SOR=0.754;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e30646\x3bdist\x3e20059;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14620\x3bName\x3e"31605:HERVK9-int(LTR)";avsnp150=rs61769926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.2839;1000g2015aug_all=0.199481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:276,0,297 1 16430775 rs61769927 A G 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.536;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=0.275;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e30648\x3bdist\x3e20057;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14620\x3bName\x3e"31605:HERVK9-int(LTR)";avsnp150=rs61769927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.2839;1000g2015aug_all=0.199481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:276,0,297 1 16430789 rs77264353 G A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.741;DP=11;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.063;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e30662\x3bdist\x3e20043;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14620\x3bName\x3e"31605:HERVK9-int(LTR)";avsnp150=rs77264353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.2839;1000g2015aug_all=0.199481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:149,0,142 1 16442472 rs12130825 G T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e42345\x3bdist\x3e8360;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12130825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.162;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.1124;1000g2015aug_all=0.0898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 16442477 rs12130826 G T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_182623,NM_001329090;GeneDetail=dist\x3e42350\x3bdist\x3e8355;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12130826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.16;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0890575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 16451413 rs1803527 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.91;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=UTR3;Gene=NM_001329090,NM_004431;GeneDetail=NM_001329090:c.*297G>A\x3bNM_004431:c.*297G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1803527;cosmic70=.;CLNALLELEID=278005;CLNDN=Age-related_cortical_cataract;CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.938;1000g2015aug_all=0.905751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 16451767 rs3754334 G A 1286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.713;DP=92;ExcessHet=3.0103;FS=1.87;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.422;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=exonic;Gene=NM_001329090,NM_004431;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754334;cosmic70=.;CLNALLELEID=249476;CLNDN=Age-related_cortical_cataract|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.3141;1000g2015aug_all=0.236621;esp6500siv2_all=0.2279;ExAC_ALL=0.2751;ExAC_AFR=0.1305;ExAC_AMR=0.3441;ExAC_EAS=0.1479;ExAC_FIN=0.2591;ExAC_NFE=0.2811;ExAC_OTH=0.2926;ExAC_SAS=0.3645;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,47:87:99:1315,0,1204 1 16464673 rs2230597 G A 1115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.341;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.97;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=exonic;Gene=NM_001329090,NM_004431;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230597;cosmic70=.;CLNALLELEID=249483;CLNDN=Age-related_cortical_cataract|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1458;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.3396;1000g2015aug_amr=0.4294;1000g2015aug_all=0.349441;esp6500siv2_all=0.3888;ExAC_ALL=0.3787;ExAC_AFR=0.3621;ExAC_AMR=0.3510;ExAC_EAS=0.1218;ExAC_FIN=0.3417;ExAC_NFE=0.4022;ExAC_OTH=0.3855;ExAC_SAS=0.4607;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,44:103:99:1144,0,1605 1 16474701 rs6603867 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=intronic;Gene=NM_001329090,NM_004431;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6603867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.466;1000g2015aug_amr=0.451;1000g2015aug_all=0.347045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 16475123 rs6678616 C T 11073.8 PASS AC=2;AF=1;AN=2;DP=243;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.59;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=exonic;Gene=NM_001329090,NM_004431;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHA2:NM_001329090:exon2:c.G411A:p.L137L,EPHA2:NM_004431:exon3:c.G573A:p.L191L;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678616;cosmic70=.;CLNALLELEID=249486;CLNDN=Age-related_cortical_cataract|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.146;1000g2015aug_amr=0.366;1000g2015aug_all=0.226438;esp6500siv2_all=0.2849;ExAC_ALL=0.2900;ExAC_AFR=0.1663;ExAC_AMR=0.3174;ExAC_EAS=0.0176;ExAC_FIN=0.2533;ExAC_NFE=0.3320;ExAC_OTH=0.2993;ExAC_SAS=0.3365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,243:243:99:11102,758,0 1 16475126 rs6678618 C T 11102.8 PASS AC=2;AF=1;AN=2;DP=247;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA2;Func=exonic;Gene=NM_001329090,NM_004431;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHA2:NM_001329090:exon2:c.G408A:p.A136A,EPHA2:NM_004431:exon3:c.G570A:p.A190A;Gencode=Name\x3eENST00000358432.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678618;cosmic70=.;CLNALLELEID=249487;CLNDN=Age-related_cortical_cataract|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.146;1000g2015aug_amr=0.366;1000g2015aug_all=0.226637;esp6500siv2_all=0.2849;ExAC_ALL=0.2900;ExAC_AFR=0.1667;ExAC_AMR=0.3175;ExAC_EAS=0.0176;ExAC_FIN=0.2535;ExAC_NFE=0.3320;ExAC_OTH=0.2993;ExAC_SAS=0.3365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,247:247:99:11131,761,0 1 16495094 rs6684117 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329090,NM_153213;GeneDetail=dist\x3e12490\x3bdist\x3e29255;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2115\x3bName\x3e"31750:AluSx3(SINE)";avsnp150=rs6684117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.8252;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.9135;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 16495108 rs6675579 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329090,NM_153213;GeneDetail=dist\x3e12504\x3bdist\x3e29241;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1492\x3bName\x3e"31751:AluJo(SINE)";avsnp150=rs6675579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.8262;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.9135;1000g2015aug_all=0.838858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 16522975 rs24263 T C 35.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329090,NM_153213;GeneDetail=dist\x3e40371\x3bdist\x3e1374;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs24263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.4035;1000g2015aug_all=0.257788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0 1 16522981 . C A 35.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329090,NM_153213;GeneDetail=dist\x3e40377\x3bdist\x3e1368;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0 1 16525056 rs451260 G T 504.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=UTR3;Gene=NM_153213;GeneDetail=NM_153213:c.*26C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs451260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4035;1000g2015aug_all=0.256789;esp6500siv2_all=0.2202;ExAC_ALL=0.2683;ExAC_AFR=0.1456;ExAC_AMR=0.4602;ExAC_EAS=0.1234;ExAC_FIN=0.1712;ExAC_NFE=0.2561;ExAC_OTH=0.2518;ExAC_SAS=0.4271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:533,48,0 1 16525549 rs221032 C T 1129.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=2.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4035;1000g2015aug_all=0.256789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1158,93,0 1 16525887 rs221033 G C 765.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.23;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4035;1000g2015aug_all=0.256989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:794,57,0 1 16525966 rs221034 T C 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.4049;1000g2015aug_all=0.262979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 16528233 rs221037 G A 1479.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=1.312;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.4207;1000g2015aug_all=0.302117;esp6500siv2_all=0.2632;ExAC_ALL=0.2948;ExAC_AFR=0.2818;ExAC_AMR=0.4842;ExAC_EAS=0.1299;ExAC_FIN=0.1831;ExAC_NFE=0.2681;ExAC_OTH=0.2741;ExAC_SAS=0.4164;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1508,129,0 1 16528721 rs221038 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.4236;1000g2015aug_all=0.305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 16529117 rs221039 T C 1288.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.923;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.4049;1000g2015aug_all=0.269968;esp6500siv2_all=0.2350;ExAC_ALL=0.2737;ExAC_AFR=0.1887;ExAC_AMR=0.4685;ExAC_EAS=0.1256;ExAC_FIN=0.1733;ExAC_NFE=0.2568;ExAC_OTH=0.2482;ExAC_SAS=0.4024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1317,117,0 1 16532803 rs221050 G A 2122.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=exonic;Gene=NM_153213;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF19:NM_153213:exon7:c.C1170T:p.S390S;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.4049;1000g2015aug_all=0.26877;esp6500siv2_all=0.2287;ExAC_ALL=0.3246;ExAC_AFR=0.2038;ExAC_AMR=0.5371;ExAC_EAS=0.1535;ExAC_FIN=0.2681;ExAC_NFE=0.3206;ExAC_OTH=0.2924;ExAC_SAS=0.4174;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2151,205,0 1 16532848 rs221051 A G 2390.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=0.84;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.4049;1000g2015aug_all=0.268371;esp6500siv2_all=0.2268;ExAC_ALL=0.3002;ExAC_AFR=0.1872;ExAC_AMR=0.4742;ExAC_EAS=0.1443;ExAC_FIN=0.2285;ExAC_NFE=0.2930;ExAC_OTH=0.2653;ExAC_SAS=0.4071;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2419,213,0 1 16533022 rs221052 C T 773.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.7983;1000g2015aug_all=0.773163;esp6500siv2_all=.;ExAC_ALL=0.7665;ExAC_AFR=0.6825;ExAC_AMR=0.8333;ExAC_EAS=0.8214;ExAC_FIN=0.7949;ExAC_NFE=0.7492;ExAC_OTH=0.7;ExAC_SAS=0.8378;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:802,63,0 1 16533258 rs221055 C T 323.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.91;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.4121;1000g2015aug_all=0.276358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:38:352,38,0 1 16533817 rs170234 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs170234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.4063;1000g2015aug_all=0.269169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 16533873 rs140190232 C G 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.887;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-1.93;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e237\x3bName\x3e"31860:L2c(LINE)";avsnp150=rs140190232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:185,0,89 1 16534002 rs221056 C G 1754.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=1.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.4063;1000g2015aug_all=0.266973;esp6500siv2_all=0.2321;ExAC_ALL=0.2752;ExAC_AFR=0.1723;ExAC_AMR=0.4644;ExAC_EAS=0.1245;ExAC_FIN=0.1722;ExAC_NFE=0.2578;ExAC_OTH=0.2478;ExAC_SAS=0.4003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1783,159,0 1 16534255 rs221057 C G 1317.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=2.554;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=exonic;Gene=NM_153213;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF19:NM_153213:exon4:c.G712C:p.E238Q;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.4063;1000g2015aug_all=0.266973;esp6500siv2_all=0.2321;ExAC_ALL=0.2768;ExAC_AFR=0.1733;ExAC_AMR=0.4667;ExAC_EAS=0.1274;ExAC_FIN=0.1724;ExAC_NFE=0.2593;ExAC_OTH=0.2494;ExAC_SAS=0.4003;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.975;MutationTaster_pred=P;MutationAssessor_score=2.3;MutationAssessor_pred=M;FATHMM_score=-0.58;FATHMM_pred=T;phyloP100way_vertebrate=0.430;phyloP20way_mammalian=0.808;SiPhy_29way_logOdds=13.826;gerp++gt2=4.94;CADD=1.624;CADD_Phred=13.98;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1346,114,0 1 16534646 rs221058 C G 1061.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=exonic;Gene=NM_153213;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF19:NM_153213:exon3:c.G487C:p.G163R;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.3948;1000g2015aug_all=0.24401;esp6500siv2_all=0.2065;ExAC_ALL=0.2700;ExAC_AFR=0.1023;ExAC_AMR=0.4630;ExAC_EAS=0.1269;ExAC_FIN=0.1736;ExAC_NFE=0.2584;ExAC_OTH=0.2428;ExAC_SAS=0.3996;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.615;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.76;FATHMM_pred=T;phyloP100way_vertebrate=0.184;phyloP20way_mammalian=0.848;SiPhy_29way_logOdds=6.672;gerp++gt2=2.13;CADD=2.399;CADD_Phred=18.81;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1090,93,0 1 16534730 rs221059 G A 727.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs221059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.4063;1000g2015aug_all=0.266773;esp6500siv2_all=0.2320;ExAC_ALL=0.2848;ExAC_AFR=0.1857;ExAC_AMR=0.4718;ExAC_EAS=0.1314;ExAC_FIN=0.1832;ExAC_NFE=0.2652;ExAC_OTH=0.2541;ExAC_SAS=0.4071;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:756,69,0 1 16534921 rs221060 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF19;Func=intronic;Gene=NM_153213;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270747.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e340\x3bName\x3e"31861:MIRc(SINE)";avsnp150=rs221060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.4063;1000g2015aug_all=0.267572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16543175 rs221024 A C 2427.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_153213,NM_030907;GeneDetail=dist\x3e4009\x3bdist\x3e15007;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e570\x3bName\x3e"31878:MIR(SINE)";avsnp150=rs221024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9771;1000g2015aug_afr=1;1000g2015aug_amr=0.9885;1000g2015aug_all=0.992612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2456,204,0 1 16577794 rs35196193 C T 1841.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.556;DP=127;ExcessHet=3.0103;FS=1.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.789;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=exonic;Gene=NM_018994;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FBXO42:NM_018994:exon10:c.G1525A:p.A509T;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35196193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0359425;esp6500siv2_all=0.0521;ExAC_ALL=0.0557;ExAC_AFR=0.0189;ExAC_AMR=0.0218;ExAC_EAS=0.0334;ExAC_FIN=0.0408;ExAC_NFE=0.0680;ExAC_OTH=0.0562;ExAC_SAS=0.0707;SIFT_score=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.136;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.71;FATHMM_pred=T;phyloP100way_vertebrate=-0.509;phyloP20way_mammalian=-0.937;SiPhy_29way_logOdds=4.947;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,64:127:99:1870,0,1885 1 16577908 rs12069239 G C 2121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.206;DP=161;ExcessHet=3.0103;FS=2.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.987;SOR=0.486;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=exonic;Gene=NM_018994;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FBXO42:NM_018994:exon10:c.C1411G:p.P471A;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12069239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.334;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.2133;1000g2015aug_all=0.270767;esp6500siv2_all=0.3804;ExAC_ALL=0.3035;ExAC_AFR=0.4361;ExAC_AMR=0.1663;ExAC_EAS=0.1889;ExAC_FIN=0.3377;ExAC_NFE=0.3558;ExAC_OTH=0.2919;ExAC_SAS=0.1532;SIFT_score=0.885;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.323;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.68;FATHMM_pred=T;phyloP100way_vertebrate=0.318;phyloP20way_mammalian=-1.646;SiPhy_29way_logOdds=1.564;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,78:160:99:2150,0,2306 1 16582053 rs34277220 C T 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.842;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=intronic;Gene=NM_018994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2055\x3bName\x3e"31968:AluSx(SINE)";avsnp150=rs34277220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.1009;1000g2015aug_all=0.0756789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:100,0,66 1 16583478 rs12136429 T A 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-1.204;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=intronic;Gene=NM_018994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e640\x3bName\x3e"31970:MIR(SINE)";avsnp150=rs12136429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.334;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.1888;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:100,0,146 1 16621183 rs1007150 C T 623.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.177;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.066;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=intronic;Gene=NM_018994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1007150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.7584;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.5548;1000g2015aug_all=0.629193;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:652,0,640 1 16641513 rs67963098 C G 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.492;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO42;Func=intronic;Gene=NM_018994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375592.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67963098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.334;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.1888;1000g2015aug_all=0.18131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:147,0,177 1 16720112 rs10907225 T C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.7;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZRD1;Func=intronic;Gene=NM_001114600,NM_001271869;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000492354.1,ENST00000401089.3,ENST00000471507.5,ENST00000401088.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.332;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.2291;1000g2015aug_all=0.279353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,175 1 16731510 rs525409 C G 988.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=75;ExcessHet=3.0103;FS=1.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.637;SOR=0.955;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA21;Func=exonic;Gene=NM_198546;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA21:NM_198546:exon8:c.G763C:p.V255L;Gencode=Name\x3eENST00000335496.5,ENST00000540400.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs525409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.402;1000g2015aug_all=0.280152;esp6500siv2_all=0.2275;ExAC_ALL=0.2748;ExAC_AFR=0.1966;ExAC_AMR=0.4593;ExAC_EAS=0.1339;ExAC_FIN=0.1624;ExAC_NFE=0.2432;ExAC_OTH=0.2494;ExAC_SAS=0.4418;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.226;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_pred=T;phyloP100way_vertebrate=0.063;phyloP20way_mammalian=-1.101;SiPhy_29way_logOdds=0.875;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,39:75:99:1017,0,889 1 16731646 rs3106498 T C 1604.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.39;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA21;Func=intronic;Gene=NM_198546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335496.5,ENST00000540400.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3106498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.9841;1000g2015aug_all=0.961062;esp6500siv2_all=0.9606;ExAC_ALL=0.9895;ExAC_AFR=0.8878;ExAC_AMR=0.9947;ExAC_EAS=0.9999;ExAC_FIN=0.9997;ExAC_NFE=0.9996;ExAC_OTH=0.9922;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1633,150,0 1 16736132 rs4661746 T C 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.678;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA21;Func=exonic;Gene=NM_198546;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA21:NM_198546:exon6:c.A551G:p.Q184R;Gencode=Name\x3eENST00000335496.5,ENST00000540400.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.138;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.1686;1000g2015aug_all=0.152756;esp6500siv2_all=0.2387;ExAC_ALL=0.2525;ExAC_AFR=0.0618;ExAC_AMR=0.1383;ExAC_EAS=0.1918;ExAC_FIN=0.3322;ExAC_NFE=0.3196;ExAC_OTH=0.2671;ExAC_SAS=0.1753;SIFT_score=0.124;SIFT_pred=T;Polyphen2_HDIV_score=0.144;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.283;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.545;MutationAssessor_pred=L;FATHMM_score=-0.17;FATHMM_pred=T;phyloP100way_vertebrate=-0.090;phyloP20way_mammalian=-0.435;SiPhy_29way_logOdds=2.334;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:252,0,252 1 16736546 rs10907226 C T 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.581;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=1.102;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA21;Func=intronic;Gene=NM_198546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335496.5,ENST00000540400.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9097;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.5346;1000g2015aug_all=0.620607;esp6500siv2_all=0.6470;ExAC_ALL=0.6409;ExAC_AFR=0.6202;ExAC_AMR=0.4979;ExAC_EAS=0.9242;ExAC_FIN=0.7301;ExAC_NFE=0.6515;ExAC_OTH=0.6286;ExAC_SAS=0.4474;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:297,0,214 1 16736738 rs11584737 G A 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=-0.992;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA21;Func=intronic;Gene=NM_198546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335496.5,ENST00000540400.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1597;1000g2015aug_sas=0.136;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.1974;1000g2015aug_all=0.232827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:67:67,0,117 1 16767506 rs2783371 T C 273.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNECAP2;Func=intronic;Gene=NM_001145277,NM_001145278,NM_018090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337132.9,ENST00000457722.6,ENST00000443980.6,ENST00000504551.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2783371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.993;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:302,24,0 1 16776804 rs279779 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNECAP2;Func=intronic;Gene=NM_001145277,NM_001145278,NM_018090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504551.6,ENST00000443980.6,ENST00000337132.9,ENST00000457722.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e377\x3bName\x3e"32535:MIRb(SINE)";avsnp150=rs279779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.5346;1000g2015aug_all=0.442492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 16778265 rs279782 G T 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.459;DP=33;ExcessHet=3.0103;FS=3.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=0.474;SOR=1.545;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNECAP2;Func=intronic;Gene=NM_001145277,NM_001145278,NM_018090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504551.6,ENST00000443980.6,ENST00000457722.6,ENST00000337132.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs279782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.5346;1000g2015aug_all=0.442492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:571,0,373 1 16802890 rs696095 G A 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.402;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.95;MQRankSum=-0.804;QD=15.14;ReadPosRankSum=1.978;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_intronic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs696095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.5245;1000g2015aug_all=0.407947;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:331,0,248 1 16803267 rs156846 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.71;MQRankSum=-1.383;QD=10.69;ReadPosRankSum=0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_intronic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs156846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.7133;1000g2015aug_all=0.690096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 16804745 rs696096 T C 124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.7;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_intronic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs696096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.5274;1000g2015aug_all=0.437899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:153,0,322 1 16804753 rs696097 T C 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.303;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_exonic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs696097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5408;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.5274;1000g2015aug_all=0.438099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:150,0,361 1 16817131 rs157247 T C 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.143;DP=24;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=59.12;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.252;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_exonic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=Score\x3e12\x3bName\x3e"32649:(CCTCCT)n(Simple_repeat)";avsnp150=rs157247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.087;1000g2015aug_amr=0.1081;1000g2015aug_all=0.217252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:239,0,401 1 16817310 rs156854 T C 1848.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=0.762;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_intronic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs156854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.5014;1000g2015aug_all=0.621206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1877,174,0 1 16817677 rs157248 T C 354.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP3;Func=ncRNA_intronic;Gene=NR_023386;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16905457;Repeat=.;avsnp150=rs157248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.4308;1000g2015aug_all=0.500998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:383,33,0 1 16835701 rs2119894 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_023386,NR_004408;GeneDetail=dist\x3e16505\x3bdist\x3e4916;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.977117\x3bName\x3echr1_KI270713v1_random:15133;Repeat=Score\x3e2264\x3bName\x3e"32705:MER87(LTR)";avsnp150=rs2119894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.5216;1000g2015aug_all=0.519968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16862158 rs2990571 C T 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.72;MQRankSum=-1.296;QD=14.13;ReadPosRankSum=-1.079;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs2990571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:226,0,185 1 16862186 rs6698704 G A 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.145;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.13;MQRankSum=-2.106;QD=9.93;ReadPosRankSum=-0.902;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs6698704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,13:32:99:346,0,611 1 16862261 rs2781620 G A 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.431;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.44;MQRankSum=-4.948;QD=2.17;ReadPosRankSum=-0.008;SOR=0.592;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs2781620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,19:110:99:267,0,3182 1 16862296 rs1759227 G C 737.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.365;DP=202;ExcessHet=3.0103;FS=2.093;MLEAC=1;MLEAF=0.5;MQ=42.09;MQRankSum=-1.595;QD=3.65;ReadPosRankSum=1.187;SOR=0.415;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs1759227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4599;ExAC_AFR=0.4067;ExAC_AMR=0.4541;ExAC_EAS=0.1832;ExAC_FIN=0.4442;ExAC_NFE=0.4633;ExAC_OTH=0.4663;ExAC_SAS=0.4732;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:158,44:202:99:766,0,5065 1 16862454 rs915324 T G 2726.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=9.696;DP=493;ExcessHet=3.0103;FS=8.387;MLEAC=1;MLEAF=0.5;MQ=44.43;MQRankSum=-15.447;QD=5.53;ReadPosRankSum=-3.324;SOR=1.243;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=Score\x3e367\x3bName\x3e"32773:L2(LINE)";avsnp150=rs915324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5002;ExAC_AFR=0.5;ExAC_AMR=0.5;ExAC_EAS=0.5;ExAC_FIN=0.5;ExAC_NFE=0.5006;ExAC_OTH=0.5;ExAC_SAS=0.5;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:398,95:493:99:2755,0,20066 1 16862461 rs1759228 T A 2959.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=10.038;DP=498;ExcessHet=3.0103;FS=4.296;MLEAC=1;MLEAF=0.5;MQ=44.57;MQRankSum=-15.971;QD=5.94;ReadPosRankSum=-4.119;SOR=1.052;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=Score\x3e367\x3bName\x3e"32773:L2(LINE)";avsnp150=rs1759228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5007;ExAC_AFR=0.5015;ExAC_AMR=0.5;ExAC_EAS=0.5;ExAC_FIN=0.5014;ExAC_NFE=0.5018;ExAC_OTH=0.5;ExAC_SAS=0.5;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:398,100:498:99:2988,0,19954 1 16862502 rs915326 A G 1860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=8.648;DP=493;ExcessHet=3.0103;FS=3.173;MLEAC=1;MLEAF=0.5;MQ=44.75;MQRankSum=-15.079;QD=3.77;ReadPosRankSum=0.2;SOR=0.522;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs915326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1379;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.27;1000g2015aug_amr=0.1931;1000g2015aug_all=0.234026;esp6500siv2_all=.;ExAC_ALL=0.5026;ExAC_AFR=0.5071;ExAC_AMR=0.5;ExAC_EAS=0.5;ExAC_FIN=0.5233;ExAC_NFE=0.5049;ExAC_OTH=0.5;ExAC_SAS=0.5001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:391,102:493:99:1889,0,10870 1 16862633 rs3863772 C T 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=5.755;DP=251;ExcessHet=3.0103;FS=50.237;MLEAC=1;MLEAF=0.5;MQ=42.41;MQRankSum=-6.475;QD=2.41;ReadPosRankSum=-4.03;SOR=5.633;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=Score\x3e353\x3bName\x3e"32774:MER20(DNA)";avsnp150=rs3863772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:209,42:251:99:634,0,5789 1 16863054 rs7522663 A G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.77;QD=27.25;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs7522663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 16866033 rs156880 C T 402.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.07;QD=30.98;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM231B;Func=exonic;Gene=NM_001310155;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM231B:NM_001310155:exon1:c.C473T:p.P158L;Gencode=Name\x3eENST00000600179.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs156880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.4467;1000g2015aug_all=0.585264;esp6500siv2_all=.;ExAC_ALL=0.5551;ExAC_AFR=0.5048;ExAC_AMR=0.4516;ExAC_EAS=0.9;ExAC_FIN=0.5997;ExAC_NFE=0.5321;ExAC_OTH=0.6458;ExAC_SAS=0.5439;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.351;phyloP20way_mammalian=-0.642;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:431,39,0 1 16875563 rs7417342 A G 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.51;MQRankSum=-2.189;QD=18.68;ReadPosRankSum=0.652;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_037446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974762\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e2267\x3bName\x3e"32790:AluSx3(SINE)";avsnp150=rs7417342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:159,0,271 1 16875566 rs7417343 A G 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.16;MQRankSum=-1.834;QD=21.79;ReadPosRankSum=0;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_037446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974762\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e2267\x3bName\x3e"32790:AluSx3(SINE)";avsnp150=rs7417343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:99:159,0,271 1 16875572 rs71267440 A G 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.16;MQRankSum=-1.834;QD=22.29;ReadPosRankSum=0;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_037446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974762\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e2267\x3bName\x3e"32790:AluSx3(SINE)";avsnp150=rs71267440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.4637;1000g2015aug_amr=0.5101;1000g2015aug_all=0.535543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:99:162,0,233 1 16877244 rs369239785 C A 1096.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.003;DP=85;ExcessHet=3.0103;FS=2.855;MLEAC=1;MLEAF=0.5;MQ=41.11;MQRankSum=-0.293;QD=12.9;ReadPosRankSum=0.239;SOR=0.45;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NM_017940;GeneDetail=dist\x3e1762\x3bdist\x3e11678;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974762\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs369239785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,47:85:99:1125,0,823 1 16877760 rs427929 T C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NM_017940;GeneDetail=dist\x3e2278\x3bdist\x3e11162;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974762\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs427929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 16902661 rs2985115 C A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.31;MQRankSum=-3.557;QD=2.03;ReadPosRankSum=1.448;SOR=0.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs2985115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.6427;1000g2015aug_all=0.665335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,4:22:73:73,0,686 1 16902728 rs367806360 G T 455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.69;DP=58;ExcessHet=3.0103;FS=3.797;MLEAC=1;MLEAF=0.5;MQ=47;MQRankSum=1.074;QD=7.86;ReadPosRankSum=1.581;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs367806360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0079;ExAC_AFR=0.0018;ExAC_AMR=0.0024;ExAC_EAS=0.0009;ExAC_FIN=0.0061;ExAC_NFE=0.0105;ExAC_OTH=0.0101;ExAC_SAS=0.0091;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,18:58:99:484,0,1229 1 16902750 rs76577521 T C 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.28;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.48;MQRankSum=0.88;QD=5.73;ReadPosRankSum=1.366;SOR=0.769;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs76577521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0435;ExAC_AFR=0.1958;ExAC_AMR=0.0193;ExAC_EAS=0.0033;ExAC_FIN=0.0203;ExAC_NFE=0.0403;ExAC_OTH=0.0521;ExAC_SAS=0.0250;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,20:75:99:458,0,1603 1 16902784 rs372301032 G A 466.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.641;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.43;MQRankSum=0.093;QD=5.43;ReadPosRankSum=-1.464;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=exonic;Gene=NM_017940;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs372301032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0024;ExAC_AFR=0.0051;ExAC_AMR=0.0007;ExAC_EAS=0.0003;ExAC_FIN=0.0011;ExAC_NFE=0.0030;ExAC_OTH=0.0045;ExAC_SAS=0.0011;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,23:86:99:495,0,1872 1 16902894 rs28453011 A G 1893.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.132;DP=115;ExcessHet=3.0103;FS=7.368;MLEAC=1;MLEAF=0.5;MQ=42.4;MQRankSum=-9.01;QD=16.47;ReadPosRankSum=-1.403;SOR=0.979;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=exonic;Gene=NM_017940;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs28453011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.73;1000g2015aug_amr=0.6455;1000g2015aug_all=0.68151;esp6500siv2_all=.;ExAC_ALL=0.4526;ExAC_AFR=0.5773;ExAC_AMR=0.3944;ExAC_EAS=0.7190;ExAC_FIN=0.4773;ExAC_NFE=0.4073;ExAC_OTH=0.4611;ExAC_SAS=0.4550;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.138;phyloP20way_mammalian=-1.121;SiPhy_29way_logOdds=4.151;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,68:115:99:1922,0,1283 1 16902939 rs755978355 G C 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.405;DP=155;ExcessHet=3.0103;FS=6.442;MLEAC=1;MLEAF=0.5;MQ=41.81;MQRankSum=-4.181;QD=3.03;ReadPosRankSum=1.443;SOR=1.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=exonic;Gene=NM_017940;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs755978355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0009;ExAC_AFR=0.0081;ExAC_AMR=8.691e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0004;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.986;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.965;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=2.77;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.542;phyloP20way_mammalian=0.171;SiPhy_29way_logOdds=3.628;gerp++gt2=.;CADD=2.541;CADD_Phred=19.73;ALLELE_END GT:AD:DP:GQ:PL 0/1:125,30:155:99:498,0,3526 1 16903108 rs866430841 A T 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.886;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.56;MQRankSum=-1.937;QD=3.23;ReadPosRankSum=-2.392;SOR=0.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs866430841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,7:38:99:151,0,1084 1 16903150 rs61772340 T C 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.678;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.02;MQRankSum=-2.93;QD=23.1;ReadPosRankSum=1.266;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.963019\x3bName\x3echr1:146959550;Repeat=.;avsnp150=rs61772340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.9539;1000g2015aug_all=0.953674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,12:17:99:421,0,146 1 16907328 rs4661383 G T 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=4.065;DP=74;ExcessHet=3.0103;FS=18.505;MLEAC=1;MLEAF=0.5;MQ=46.46;MQRankSum=-4.578;QD=2.96;ReadPosRankSum=0.995;SOR=3.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=exonic;Gene=NM_017940;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs4661383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5007;ExAC_AFR=0.5109;ExAC_AMR=0.5001;ExAC_EAS=0.5001;ExAC_FIN=0.4992;ExAC_NFE=0.4996;ExAC_OTH=0.5;ExAC_SAS=0.5001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,15:74:99:247,0,1566 1 16907766 rs4661838 A G 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.02;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.51;MQRankSum=-1.136;QD=3.72;ReadPosRankSum=-1.955;SOR=0.774;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs4661838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,9:48:99:207,0,1318 1 16907855 rs77685848 G A 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.058;DP=123;ExcessHet=3.0103;FS=9.397;MLEAC=1;MLEAF=0.5;MQ=51.87;MQRankSum=-5.934;QD=2.26;ReadPosRankSum=0.044;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs77685848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:98,25:123:99:306,0,2814 1 16908034 rs2119897 C G 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.885;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.41;MQRankSum=-5.621;QD=4.65;ReadPosRankSum=-0.011;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs2119897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0907;ExAC_AFR=0.2499;ExAC_AMR=0.0418;ExAC_EAS=0.0917;ExAC_FIN=0.0473;ExAC_NFE=0.0822;ExAC_OTH=0.1;ExAC_SAS=0.0822;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,11:55:99:284,0,1315 1 16908080 rs2119896 G A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.234;DP=41;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=47.91;MQRankSum=-3.963;QD=2.95;ReadPosRankSum=0.599;SOR=0.334;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs2119896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,9:41:99:149,0,922 1 16910064 rs2023254 A G 1153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.542;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.92;MQRankSum=-4.861;QD=15.81;ReadPosRankSum=-0.409;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16583866;Repeat=.;avsnp150=rs2023254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.4986;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,45:73:99:1182,0,733 1 16911943 rs4247167 T A 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=43.15;MQRankSum=1.213;QD=25.68;ReadPosRankSum=-1.44;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs4247167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.4481;1000g2015aug_all=0.470647;esp6500siv2_all=.;ExAC_ALL=0.4991;ExAC_AFR=0.5111;ExAC_AMR=0.4921;ExAC_EAS=0.5;ExAC_FIN=0.4957;ExAC_NFE=0.4961;ExAC_OTH=0.5;ExAC_SAS=0.5007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:99:285,0,143 1 16911946 rs4247168 G A 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.054;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=43.15;MQRankSum=1.213;QD=25.68;ReadPosRankSum=-1.44;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs4247168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.4481;1000g2015aug_all=0.470647;esp6500siv2_all=.;ExAC_ALL=0.4930;ExAC_AFR=0.5068;ExAC_AMR=0.4844;ExAC_EAS=0.4767;ExAC_FIN=0.4958;ExAC_NFE=0.4929;ExAC_OTH=0.5;ExAC_SAS=0.4885;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:99:285,0,143 1 16912231 rs28502538 A G 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.95;MQRankSum=0.296;QD=11.14;ReadPosRankSum=0.066;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs28502538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.1840;ExAC_AFR=0.1367;ExAC_AMR=0.1814;ExAC_EAS=0.2772;ExAC_FIN=0.1932;ExAC_NFE=0.1781;ExAC_OTH=0.1853;ExAC_SAS=0.1815;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:173,0,218 1 16914160 rs2023215 G A 976.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.849;DP=76;ExcessHet=3.0103;FS=21.606;MLEAC=1;MLEAF=0.5;MQ=52.3;MQRankSum=-8.351;QD=12.85;ReadPosRankSum=-2.242;SOR=3.666;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs2023215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,27:76:99:1005,0,2012 1 16914168 rs2147033 C G 1059.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.179;DP=86;ExcessHet=3.0103;FS=21.589;MLEAC=1;MLEAF=0.5;MQ=51.52;MQRankSum=-8.358;QD=12.32;ReadPosRankSum=-1.714;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs2147033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,31:86:99:1088,0,2143 1 16914250 rs202115379 G A 474.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.316;DP=170;ExcessHet=3.0103;FS=3.549;MLEAC=1;MLEAF=0.5;MQ=47.08;MQRankSum=-3.011;QD=2.79;ReadPosRankSum=0.574;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=exonic;Gene=NM_017940;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs202115379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0037;ExAC_AFR=0.0024;ExAC_AMR=0.0010;ExAC_EAS=0.0002;ExAC_FIN=0.0034;ExAC_NFE=0.0050;ExAC_OTH=0.0068;ExAC_SAS=0.0026;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.399;phyloP20way_mammalian=0.215;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:135,35:170:99:503,0,3824 1 16914396 rs2023276 C T 1195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.612;DP=92;ExcessHet=3.0103;FS=8.397;MLEAC=1;MLEAF=0.5;MQ=47.05;MQRankSum=-7.191;QD=13;ReadPosRankSum=0.508;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs2023276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,47:92:99:1224,0,1186 1 16914415 rs4233549 A G 1265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.301;DP=72;ExcessHet=3.0103;FS=4.518;MLEAC=1;MLEAF=0.5;MQ=46.59;MQRankSum=-6.725;QD=17.58;ReadPosRankSum=0.811;SOR=1.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs4233549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,47:72:99:1294,0,626 1 16914442 rs4661843 A G 311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.53;DP=51;ExcessHet=3.0103;FS=1.827;MLEAC=1;MLEAF=0.5;MQ=47.56;MQRankSum=-4.149;QD=6.11;ReadPosRankSum=-2.162;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs4661843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,15:51:99:340,0,1059 1 16916358 rs3981774 G C 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.464;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.47;MQRankSum=-2.764;QD=9.75;ReadPosRankSum=0.676;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs3981774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.2954;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=0.2077;ExAC_AFR=0.4445;ExAC_AMR=0.1479;ExAC_EAS=0.1587;ExAC_FIN=0.2180;ExAC_NFE=0.1791;ExAC_OTH=0.2169;ExAC_SAS=0.2783;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:233,0,367 1 16916514 rs200002040 C T 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.735;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.38;MQRankSum=-3.075;QD=7.15;ReadPosRankSum=-0.102;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs200002040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0591;ExAC_AFR=0.0698;ExAC_AMR=0.0454;ExAC_EAS=0.0727;ExAC_FIN=0.0757;ExAC_NFE=0.0568;ExAC_OTH=0.0716;ExAC_SAS=0.0585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:250,0,530 1 16916603 rs11583443 C A 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.935;DP=23;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=55.75;MQRankSum=-3.624;QD=2.6;ReadPosRankSum=1.908;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.984241\x3bName\x3echr1:16577589;Repeat=.;avsnp150=rs11583443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.7089;1000g2015aug_all=0.772364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,4:23:88:88,0,549 1 16931355 rs381429 T A 465.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.147;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.252;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430580.6,ENST00000432949.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.954772\x3bName\x3echr1:21439811;Repeat=.;avsnp150=rs381429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.4352;1000g2015aug_all=0.401558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,21:52:99:494,0,722 1 16931490 rs849621 C A 305.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.5;QD=27.79;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.954772\x3bName\x3echr1:21439811;Repeat=.;avsnp150=rs849621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.635;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.7176;1000g2015aug_all=0.754992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 16931554 rs371797 T C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.5;MQRankSum=0;QD=5.82;ReadPosRankSum=-1.368;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.954772\x3bName\x3echr1:21439811;Repeat=.;avsnp150=rs371797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:69:69,0,146 1 16932863 rs2779483 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.954772\x3bName\x3echr1:21439811;Repeat=Score\x3e3136\x3bName\x3e"32872:L1MC2(LINE)";avsnp150=rs2779483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9755;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 16934336 rs698881 C T 111.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF1;Func=intronic;Gene=NM_017940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432949.5,ENST00000430580.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.954772\x3bName\x3echr1:21439811;Repeat=.;avsnp150=rs698881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.8487;1000g2015aug_all=0.884185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:140,0,27 1 16941312 rs1746717 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017940,NR_026752;GeneDetail=dist\x3e1212\x3bdist\x3e3439;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.904409\x3bName\x3echr1:146935148;Repeat=Score\x3e886\x3bName\x3e"32890:L2b(LINE)";avsnp150=rs1746717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 16945452 rs11260834 C T 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.426;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=-0.636;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_exonic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.920569\x3bName\x3echr1:148011628;Repeat=.;avsnp150=rs11260834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,5:17:99:124,0,348 1 16945570 rs28552760 A G 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.94;MQRankSum=-0.967;QD=4.82;ReadPosRankSum=0;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_exonic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs28552760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 16945673 rs55654854 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.83;MQRankSum=-0.967;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs55654854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 16946854 rs2761552 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs2761552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9484;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.8646;1000g2015aug_all=0.891973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 16947837 rs2786815 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs2786815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.8646;1000g2015aug_all=0.893171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 16948361 rs12095060 A G 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.67;ReadPosRankSum=1.293;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs12095060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.2392;1000g2015aug_all=0.275559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,5:22:99:109,0,508 1 16948473 rs446948 C T 470.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.793;DP=51;ExcessHet=3.0103;FS=1.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.132;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs446948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.4164;1000g2015aug_all=0.383187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,18:50:99:499,0,1425 1 16948474 rs2781579 C G 1030.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.127;DP=51;ExcessHet=3.0103;FS=2.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=0.079;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs2781579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.8141;1000g2015aug_all=0.746206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,30:50:99:1059,0,548 1 16950449 rs11260846 A G 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.613;DP=51;ExcessHet=3.0103;FS=1.352;MLEAC=1;MLEAF=0.5;MQ=55.45;MQRankSum=-6.113;QD=2.11;ReadPosRankSum=-0.676;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs11260846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,11:51:99:136,0,1199 1 16950708 rs1628058 T G 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.086;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1628058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,313 1 16950916 rs112496835 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.989;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=-0.744;SOR=0.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs112496835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,5:21:78:78,0,525 1 16951024 rs1624137 T C 174.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.1;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=0.619;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1624137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:25:203,0,25 1 16952260 rs1762943 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.771;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.56;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1762943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,3:19:68:68,0,539 1 16952267 rs1765552 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.714;DP=18;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=0.797;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1765552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,4:18:79:79,0,472 1 16952481 rs915311 A G 535.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.215;DP=42;ExcessHet=3.0103;FS=1.149;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.113;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_exonic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs915311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.5591;1000g2015aug_all=0.601238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,22:42:99:564,0,520 1 16952577 rs11799496 C A 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.588;DP=32;ExcessHet=3.0103;FS=1.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=-0.821;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs11799496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.1931;1000g2015aug_all=0.20607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,7:32:96:96,0,765 1 16952764 rs1765550 A C 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.902;DP=25;ExcessHet=3.0103;FS=6.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.685;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1765550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:370,0,347 1 16952993 rs942268 C G 1080.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.261;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.37;MQRankSum=-0.118;QD=28.44;ReadPosRankSum=0.981;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_exonic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs942268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.827;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.8429;1000g2015aug_all=0.854433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:2,36:38:65:1109,65,0 1 16953121 rs1762947 C T 1294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.048;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=1.483;SOR=0.7;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1762947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,40:57:99:1323,0,471 1 16953672 rs3738597 C T 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.01;DP=149;ExcessHet=3.0103;FS=0.972;MLEAC=1;MLEAF=0.5;MQ=58.39;MQRankSum=2.084;QD=3.69;ReadPosRankSum=1.175;SOR=0.876;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_exonic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs3738597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:120,29:149:99:578,0,4031 1 16953881 rs9329439 C G 2001.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.544;DP=191;ExcessHet=3.0103;FS=0.598;MLEAC=1;MLEAF=0.5;MQ=59.3;MQRankSum=-4.559;QD=10.48;ReadPosRankSum=-0.115;SOR=0.594;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs9329439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.3732;1000g2015aug_all=0.413738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:111,80:191:99:2030,0,3127 1 16953957 rs4644487 G A 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=65;ExcessHet=3.0103;FS=4.717;MLEAC=1;MLEAF=0.5;MQ=57.92;MQRankSum=1.987;QD=3.75;ReadPosRankSum=0.558;SOR=0.05;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=Score\x3e321\x3bName\x3e"32918:MIR(SINE)";avsnp150=rs4644487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,12:65:99:272,0,1984 1 16957122 rs849697 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs849697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3611;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.472;1000g2015aug_amr=0.4193;1000g2015aug_all=0.397963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:54:72,0,54 1 16957215 rs1762952 A G 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.366;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1762952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6239;1000g2015aug_all=0.69369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:171,0,62 1 16957287 rs2151192 G A 51.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.222;DP=15;ExcessHet=3.0103;FS=6.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=-0.433;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCCP2;Func=ncRNA_intronic;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs2151192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,3:15:80:80,0,411 1 16957446 rs698883 T G 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.581;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.37;ReadPosRankSum=1.862;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs698883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.8761;1000g2015aug_all=0.895567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:52:345,0,52 1 16957983 rs2761548 C T 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.219;DP=23;ExcessHet=3.0103;FS=1.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=-0.912;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs2761548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.366;1000g2015aug_all=0.384585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,6:23:99:160,0,437 1 16958064 rs1622521 A G 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.285;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_026752;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1622521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.593;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.6455;1000g2015aug_all=0.678514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,267 1 16959551 rs849696 T C 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.842;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e2150\x3bdist\x3e12518;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs849696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 16959602 rs1807293 C T 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.536;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.52;ReadPosRankSum=-2.63;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e2201\x3bdist\x3e12467;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs1807293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:321,0,186 1 16959612 rs9329443 A G 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.335;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.7;ReadPosRankSum=-1.451;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e2211\x3bdist\x3e12457;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16932851;Repeat=.;avsnp150=rs9329443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:360,0,183 1 16963690 rs10907260 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e6289\x3bdist\x3e8379;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs10907260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 16969095 rs849703 C A 743.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.707;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.68;MQRankSum=-4.384;QD=27.55;ReadPosRankSum=-0.467;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e11694\x3bdist\x3e2974;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs849703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.7637;1000g2015aug_all=0.807708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,21:27:99:772,0,169 1 16969381 rs9727604 C T 5310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.5;DP=307;ExcessHet=3.0103;FS=0.872;MLEAC=1;MLEAF=0.5;MQ=55.48;MQRankSum=-9.532;QD=17.3;ReadPosRankSum=-0.946;SOR=0.64;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e11980\x3bdist\x3e2688;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs9727604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:132,175:307:99:5339,0,3587 1 16969715 rs9329444 A G 1232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.533;DP=86;ExcessHet=3.0103;FS=10.026;MLEAC=1;MLEAF=0.5;MQ=59.66;MQRankSum=1.282;QD=14.33;ReadPosRankSum=-1.853;SOR=0.114;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e12314\x3bdist\x3e2354;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs9329444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,38:86:99:1261,0,1618 1 16970884 rs9729060 T C 132.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.068;SOR=1.108;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e13483\x3bdist\x3e1185;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs9729060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:18:161,0,18 1 16971069 rs849702 G C 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026752,NR_027504;GeneDetail=dist\x3e13668\x3bdist\x3e1000;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs849702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.8012;1000g2015aug_all=0.832468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 16971283 rs1831695 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs1831695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 16971674 rs9727306 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=57.19;MQRankSum=-0.126;QD=16.35;ReadPosRankSum=0;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs9727306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 16971804 rs9729102 A T 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.346;DP=31;ExcessHet=3.0103;FS=3.153;MLEAC=1;MLEAF=0.5;MQ=59.91;MQRankSum=-0.904;QD=16.54;ReadPosRankSum=-0.02;SOR=0.093;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs9729102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:541,0,533 1 16971862 rs10796422 A G 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.606;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.95;MQRankSum=0.45;QD=2.2;ReadPosRankSum=-0.09;SOR=0.265;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs10796422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.3256;1000g2015aug_all=0.320288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,8:58:99:156,0,1972 1 16971866 rs2224812 G T 991.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.637;DP=59;ExcessHet=3.0103;FS=6.247;MLEAC=1;MLEAF=0.5;MQ=59.95;MQRankSum=-0.983;QD=16.81;ReadPosRankSum=-1.107;SOR=0.087;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs2224812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.7421;1000g2015aug_amr=0.7104;1000g2015aug_all=0.721645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,29:59:99:1020,0,1064 1 16971948 rs2209174 C G 703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.747;DP=192;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.96;MQRankSum=-2.912;QD=3.67;ReadPosRankSum=0.364;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs2209174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.4755;1000g2015aug_all=0.477636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:156,36:192:99:732,0,5250 1 16972068 rs1360575 A G 9732.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.26;DP=556;ExcessHet=3.0103;FS=1.776;MLEAC=1;MLEAF=0.5;MQ=51.33;MQRankSum=-0.55;QD=17.5;ReadPosRankSum=-0.478;SOR=0.858;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.9732\x3bName\x3echr3:49683986;Repeat=.;avsnp150=rs1360575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.4006;1000g2015aug_all=0.453275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:229,327:556:99:9761,0,5835 1 16972338 rs60980767 T C 104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=49;ExcessHet=3.0103;FS=5.638;MLEAC=1;MLEAF=0.5;MQ=58.16;MQRankSum=-2.695;QD=2.18;ReadPosRankSum=-0.541;SOR=0.029;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs60980767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,7:48:99:133,0,1566 1 16972489 rs2761546 C A 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.05;MQRankSum=-1.15;QD=23.69;ReadPosRankSum=0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2761546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 16972496 rs11260863 G A 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.05;MQRankSum=-1.15;QD=23.69;ReadPosRankSum=0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs11260863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 16972612 rs2761545 G A 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.849;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.97;MQRankSum=-3.481;QD=9.91;ReadPosRankSum=-0.064;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2761545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.3934;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,300 1 16972920 rs4661882 C T 1654.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.345;DP=526;ExcessHet=3.0103;FS=1.412;MLEAC=1;MLEAF=0.5;MQ=59.97;MQRankSum=0.508;QD=3.15;ReadPosRankSum=-0.152;SOR=0.553;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs4661882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:419,106:525:99:1683,0,11830 1 16972940 rs1970921 G A 6228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.371;DP=543;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=59.65;MQRankSum=-4.39;QD=11.49;ReadPosRankSum=0.058;SOR=0.819;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs1970921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:295,247:542:99:6257,0,7737 1 16973072 rs201533761 T C 3691.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.347;DP=412;ExcessHet=3.0103;FS=1.163;MLEAC=1;MLEAF=0.5;MQ=55.57;MQRankSum=-19.237;QD=8.96;ReadPosRankSum=-0.36;SOR=0.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs201533761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:267,145:412:99:3720,0,8032 1 16973152 rs1970920 A G 6837.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.547;DP=483;ExcessHet=3.0103;FS=4.931;MLEAC=1;MLEAF=0.5;MQ=57.54;MQRankSum=-11.926;QD=14.19;ReadPosRankSum=-0.25;SOR=0.535;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs1970920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:229,253:482:99:6866,0,6341 1 16973184 rs55828106 G A 5977.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.677;DP=485;ExcessHet=3.0103;FS=4.048;MLEAC=1;MLEAF=0.5;MQ=56.2;MQRankSum=-5.419;QD=12.35;ReadPosRankSum=1.151;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs55828106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:241,243:484:99:6006,0,6526 1 16973388 rs2490833 C T 485.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=4.113;DP=226;ExcessHet=3.0103;FS=22.119;MLEAC=1;MLEAF=0.5;MQ=54.06;MQRankSum=-8.322;QD=2.15;ReadPosRankSum=-4.191;SOR=2.064;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2490833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:195,31:226:99:514,0,6107 1 16973400 rs2761542 G A 576.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=4.628;DP=225;ExcessHet=3.0103;FS=0.665;MLEAC=1;MLEAF=0.5;MQ=54.75;MQRankSum=-10.462;QD=2.56;ReadPosRankSum=-2.09;SOR=0.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2761542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:188,37:225:99:605,0,5758 1 16973423 rs61499416 C T 540.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.804;DP=249;ExcessHet=3.0103;FS=18.393;MLEAC=1;MLEAF=0.5;MQ=49.67;MQRankSum=-8.415;QD=2.17;ReadPosRankSum=-3.535;SOR=1.962;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs61499416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:207,42:249:99:569,0,6080 1 16973919 rs141898836 A G 4324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-4.223;DP=568;ExcessHet=3.0103;FS=12.407;MLEAC=1;MLEAF=0.5;MQ=40.99;MQRankSum=-3.46;QD=7.63;ReadPosRankSum=1.613;SOR=0.513;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs141898836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:340,227:567:99:4353,0,8721 1 16974021 rs76936294 G A 3903.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-5.186;DP=455;ExcessHet=3.0103;FS=4.458;MLEAC=1;MLEAF=0.5;MQ=44.92;MQRankSum=-4.505;QD=8.58;ReadPosRankSum=1.609;SOR=0.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs76936294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:270,185:455:99:3932,0,7665 1 16974149 rs151122120 C A 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.391;DP=98;ExcessHet=3.0103;FS=4.588;MLEAC=1;MLEAF=0.5;MQ=40.97;MQRankSum=-4.705;QD=2.23;ReadPosRankSum=0;SOR=1.837;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs151122120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,16:98:99:247,0,2783 1 16974511 rs58679574 G A 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.056;DP=157;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.05;MQRankSum=1.818;QD=2.02;ReadPosRankSum=0.246;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=Score\x3e15\x3bName\x3e"32962:G-rich(Low_complexity)";avsnp150=rs58679574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:133,24:157:99:346,0,3999 1 16974786 rs28622547 G C 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.069;DP=77;ExcessHet=3.0103;FS=50.875;MLEAC=1;MLEAF=0.5;MQ=42.28;MQRankSum=-3.995;QD=2.09;ReadPosRankSum=0.502;SOR=4.971;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs28622547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.1182;1000g2015aug_all=0.211262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,11:77:99:189,0,2256 1 16974869 rs4570422 G C 1278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.995;DP=158;ExcessHet=3.0103;FS=3.36;MLEAC=1;MLEAF=0.5;MQ=58.34;MQRankSum=0.366;QD=8.09;ReadPosRankSum=-0.111;SOR=1.01;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs4570422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:109,49:158:99:1307,0,3368 1 16974972 rs58464479 C T 1210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.678;DP=351;ExcessHet=3.0103;FS=16.271;MLEAC=1;MLEAF=0.5;MQ=53.86;MQRankSum=-17.232;QD=3.45;ReadPosRankSum=2.146;SOR=1.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs58464479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:266,85:351:99:1239,0,7818 1 16975002 rs2093773 C T 1498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-5.341;DP=393;ExcessHet=3.0103;FS=16.541;MLEAC=1;MLEAF=0.5;MQ=52.63;MQRankSum=-16.837;QD=3.81;ReadPosRankSum=4.042;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2093773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.59;1000g2015aug_amr=0.4467;1000g2015aug_all=0.509185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:290,103:393:99:1527,0,8628 1 16975093 rs2095111 C T 762.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.207;DP=336;ExcessHet=3.0103;FS=11.37;MLEAC=1;MLEAF=0.5;MQ=45.64;MQRankSum=2.815;QD=2.27;ReadPosRankSum=1.01;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2095111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:281,55:336:99:791,0,8225 1 16975598 rs868632661 T C 340.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.47;DP=79;ExcessHet=3.0103;FS=31.928;MLEAC=1;MLEAF=0.5;MQ=41.71;MQRankSum=-2.051;QD=4.31;ReadPosRankSum=0.72;SOR=4.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs868632661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,16:79:99:369,0,2152 1 16975626 rs12031642 G C 732.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.076;DP=90;ExcessHet=3.0103;FS=19.24;MLEAC=1;MLEAF=0.5;MQ=42.39;MQRankSum=-1.991;QD=8.14;ReadPosRankSum=-0.537;SOR=2.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs12031642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,27:90:99:761,0,2126 1 16976032 rs2483047 A C 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.272;DP=79;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=54.56;MQRankSum=-0.984;QD=4.92;ReadPosRankSum=-2.157;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2483047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,18:79:99:417,0,1999 1 16976539 rs2761527 A G 1602.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.823;DP=223;ExcessHet=3.0103;FS=42.64;MLEAC=1;MLEAF=0.5;MQ=48.5;MQRankSum=-9.719;QD=7.19;ReadPosRankSum=-2.048;SOR=2.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_intronic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs2761527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:153,70:223:99:1631,0,4750 1 16976569 rs78288272 G A 758.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.158;DP=280;ExcessHet=3.0103;FS=10.622;MLEAC=1;MLEAF=0.5;MQ=47;MQRankSum=-4.658;QD=2.72;ReadPosRankSum=-1.859;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs78288272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:227,52:279:99:787,0,6691 1 16976641 rs1057417 C T 2085.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.106;DP=407;ExcessHet=3.0103;FS=1.368;MLEAC=1;MLEAF=0.5;MQ=44.23;MQRankSum=2.232;QD=5.12;ReadPosRankSum=-1.073;SOR=0.591;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=.;avsnp150=rs1057417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:320,87:407:99:2114,0,8762 1 16976807 rs11139 C T 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.509;DP=97;ExcessHet=3.0103;FS=2.301;MLEAC=1;MLEAF=0.5;MQ=47.36;MQRankSum=-4.127;QD=2.77;ReadPosRankSum=-1.955;SOR=1.119;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=Score\x3e1054\x3bName\x3e"32963:Charlie1a(DNA)";avsnp150=rs11139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,13:97:99:297,0,2753 1 16976825 rs2761525 C A 335.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.958;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.13;MQRankSum=-6.624;QD=5.89;ReadPosRankSum=-0.96;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1P2;Func=ncRNA_exonic;Gene=NR_027504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987135\x3bName\x3echr1_KI270713v1_random:2411;Repeat=Score\x3e1054\x3bName\x3e"32963:Charlie1a(DNA)";avsnp150=rs2761525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,17:57:99:364,0,1465 1 17013189 rs2786825 A G 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.63;MQRankSum=-2.655;QD=9.97;ReadPosRankSum=1.71;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_026567;GeneDetail=dist\x3e5366\x3bdist\x3e4524;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs2786825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9337;1000g2015aug_all=0.939896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:118,0,106 1 17013916 rs9662672 G A 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.215;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.7;MQRankSum=-0.371;QD=7.59;ReadPosRankSum=-0.348;SOR=0.541;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_026567;GeneDetail=dist\x3e6093\x3bdist\x3e3797;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs9662672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,12:35:99:294,0,741 1 17023182 rs614461 C G 758.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.367;DP=117;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.65;MQRankSum=-7.602;QD=6.49;ReadPosRankSum=-0.297;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs614461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.4553;1000g2015aug_all=0.482827;esp6500siv2_all=.;ExAC_ALL=0.4886;ExAC_AFR=0.4752;ExAC_AMR=0.4857;ExAC_EAS=0.5185;ExAC_FIN=0.4914;ExAC_NFE=0.4864;ExAC_OTH=0.4841;ExAC_SAS=0.4905;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,32:117:99:787,0,2705 1 17023209 rs112071224 G A 757.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.14;DP=120;ExcessHet=3.0103;FS=2.875;MLEAC=1;MLEAF=0.5;MQ=47.82;MQRankSum=-6.57;QD=6.31;ReadPosRankSum=-0.838;SOR=1.089;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs112071224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.1566;ExAC_AFR=0.0984;ExAC_AMR=0.1576;ExAC_EAS=0.1752;ExAC_FIN=0.1414;ExAC_NFE=0.1568;ExAC_OTH=0.1634;ExAC_SAS=0.1846;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,33:120:99:786,0,2836 1 17023511 rs563144 C A 707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.402;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.65;MQRankSum=-5.568;QD=8.74;ReadPosRankSum=-0.66;SOR=0.572;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs563144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.7911;1000g2015aug_all=0.722444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,30:81:99:736,0,1685 1 17023569 rs563960 T C 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.869;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.73;MQRankSum=-2.301;QD=23.67;ReadPosRankSum=-1.089;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs563960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.9265;1000g2015aug_all=0.888978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,22:31:99:762,0,283 1 17026004 rs9661305 C G 259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.2;DP=19;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=58.85;MQRankSum=0.31;QD=13.67;ReadPosRankSum=0.083;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e27\x3bName\x3e"33053:(GGC)n(Simple_repeat)";avsnp150=rs9661305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4434;ExAC_AFR=0.5060;ExAC_AMR=0.4394;ExAC_EAS=0.4915;ExAC_FIN=0.5;ExAC_NFE=0.4650;ExAC_OTH=0.4894;ExAC_SAS=0.4329;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:288,0,141 1 17026243 rs61421147 C G 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.26;MQRankSum=-0.703;QD=4.85;ReadPosRankSum=-0.992;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs61421147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:67:67,0,151 1 17033594 rs2093771 G C 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.703;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs2093771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 17034041 rs2743505 T C 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.936;DP=33;ExcessHet=3.0103;FS=7.297;MLEAC=1;MLEAF=0.5;MQ=48.73;MQRankSum=-3.419;QD=3.99;ReadPosRankSum=0.375;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs2743505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.6445;1000g2015aug_amr=0.7795;1000g2015aug_all=0.73742;esp6500siv2_all=.;ExAC_ALL=0.7564;ExAC_AFR=0.6375;ExAC_AMR=0.7708;ExAC_EAS=0.6197;ExAC_FIN=0.8030;ExAC_NFE=0.7824;ExAC_OTH=0.7283;ExAC_SAS=0.7565;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,7:33:99:160,0,782 1 17034167 rs2988287 G A 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.8;MQRankSum=-2.414;QD=3.04;ReadPosRankSum=0.179;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs2988287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2370;ExAC_AFR=0.3103;ExAC_AMR=0.1611;ExAC_EAS=0.1204;ExAC_FIN=0.1633;ExAC_NFE=0.2572;ExAC_OTH=0.2967;ExAC_SAS=0.2413;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,4:21:92:92,0,555 1 17034250 rs61773400 C G 84.98 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.15;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.83;MQRankSum=-1.15;QD=21.24;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=.;avsnp150=rs61773400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.6057;ExAC_AFR=0.4826;ExAC_AMR=0.5758;ExAC_EAS=0.5319;ExAC_FIN=0.5167;ExAC_NFE=0.5799;ExAC_OTH=0.5857;ExAC_SAS=0.6286;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:13:113,0,13 1 17034285 rs77805593 C G 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=20.9;ReadPosRankSum=1.188;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e24\x3bName\x3e"33065:(GCCCC)n(Simple_repeat)";avsnp150=rs77805593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:279,0,189 1 17034297 rs9728482 G A 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.998;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=20.9;ReadPosRankSum=0.707;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.993135\x3bName\x3echr1_KI270714v1_random:9895;Repeat=Score\x3e24\x3bName\x3e"33065:(GCCCC)n(Simple_repeat)";avsnp150=rs9728482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:279,0,189 1 17044335 rs1755330 T G 278.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=1.593;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs1755330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.8359;1000g2015aug_amr=0.9352;1000g2015aug_all=0.920727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:15:307,0,15 1 17044394 rs2610568 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=6.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=0;SOR=0.016;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs2610568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:99:110,0,566 1 17044457 rs1318341 G C 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.918;DP=41;ExcessHet=3.0103;FS=3.872;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=1.67;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs1318341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9265;1000g2015aug_all=0.922125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,31:41:99:969,0,261 1 17044511 rs2773185 T C 452.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.753;DP=78;ExcessHet=3.0103;FS=2.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.589;SOR=1.02;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs2773185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,20:78:99:481,0,1638 1 17044589 rs944147 G A 1306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.716;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.5;MQRankSum=-0.274;QD=11.88;ReadPosRankSum=-0.108;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs944147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,49:110:99:1335,0,1588 1 17044695 rs2773186 A G 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.262;DP=59;ExcessHet=3.0103;FS=4.66;MLEAC=1;MLEAF=0.5;MQ=59.98;MQRankSum=0.598;QD=4.71;ReadPosRankSum=-0.838;SOR=1.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs2773186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,14:59:99:306,0,1398 1 17046361 rs3856291 A T 471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.043;DP=59;ExcessHet=3.0103;FS=1.336;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=-0.305;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs3856291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,18:59:99:500,0,1285 1 17046439 rs9728204 C A 395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.864;DP=125;ExcessHet=3.0103;FS=7.848;MLEAC=1;MLEAF=0.5;MQ=59.93;MQRankSum=0;QD=3.19;ReadPosRankSum=-2.296;SOR=0.238;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs9728204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.1311;1000g2015aug_all=0.158546;esp6500siv2_all=.;ExAC_ALL=0.1599;ExAC_AFR=0.1083;ExAC_AMR=0.1640;ExAC_EAS=0.2020;ExAC_FIN=0.1462;ExAC_NFE=0.1595;ExAC_OTH=0.1659;ExAC_SAS=0.1754;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:98,26:124:99:424,0,3339 1 17046456 rs3856292 T C 957.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.47;DP=134;ExcessHet=3.0103;FS=2.479;MLEAC=1;MLEAF=0.5;MQ=59.93;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.984;SOR=0.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_intronic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs3856292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4431;ExAC_AFR=0.3809;ExAC_AMR=0.4511;ExAC_EAS=0.4994;ExAC_FIN=0.4601;ExAC_NFE=0.4382;ExAC_OTH=0.4321;ExAC_SAS=0.4610;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,40:133:99:986,0,3016 1 17046549 rs1755332 G A 1680.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.038;DP=159;ExcessHet=3.0103;FS=2.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.232;SOR=0.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs1755332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=0.4503;ExAC_AFR=0.4250;ExAC_AMR=0.4166;ExAC_EAS=0.4990;ExAC_FIN=0.4604;ExAC_NFE=0.4576;ExAC_OTH=0.4734;ExAC_SAS=0.4296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,71:159:99:1709,0,2653 1 17046595 rs3856293 T C 1150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.309;DP=150;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=-2.036;SOR=0.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs3856293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:101,48:149:99:1179,0,2880 1 17046613 rs3856294 C T 813.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.296;DP=130;ExcessHet=3.0103;FS=0.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.822;SOR=0.59;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESPNP;Func=ncRNA_exonic;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs3856294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00958466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,40:130:99:842,0,2755 1 17046698 rs3982089 C G 640.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.871;DP=63;ExcessHet=3.0103;FS=1.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.771;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=.;avsnp150=rs3982089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,23:63:99:669,0,1203 1 17046796 rs1755333 G A 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.928;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.413;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_026567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.952198\x3bName\x3echr1:6427660;Repeat=Score\x3e225\x3bName\x3e"33092:MIRb(SINE)";avsnp150=rs1755333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9366;1000g2015aug_all=0.926318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:264,0,356 1 17053758 rs2419172 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026567,NM_001310138;GeneDetail=dist\x3e7106\x3bdist\x3e6544;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987113\x3bName\x3echr1:16645631;Repeat=.;avsnp150=rs2419172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.9652;1000g2015aug_amr=0.9841;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17053764 rs1974122 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026567,NM_001310138;GeneDetail=dist\x3e7112\x3bdist\x3e6538;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987113\x3bName\x3echr1:16645631;Repeat=.;avsnp150=rs1974122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.006;1000g2015aug_afr=0.062;1000g2015aug_amr=0.0144;1000g2015aug_all=0.023762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17053766 rs2419171 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026567,NM_001310138;GeneDetail=dist\x3e7114\x3bdist\x3e6536;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.987113\x3bName\x3echr1:16645631;Repeat=.;avsnp150=rs2419171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.261;1000g2015aug_amr=0.3415;1000g2015aug_all=0.301318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17083460 rs9659870 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=UTR3;Gene=NM_001271733;GeneDetail=NM_001271733:c.*267A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=Score\x3e1085\x3bName\x3e"33160:Charlie1a(DNA)";avsnp150=rs9659870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.402;1000g2015aug_all=0.43131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17084831 rs376787430 C G 513.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=58;ExcessHet=3.0103;FS=5.959;MLEAC=1;MLEAF=0.5;MQ=46.41;MQRankSum=-1.084;QD=9.01;ReadPosRankSum=0.283;SOR=1.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs376787430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.1952;ExAC_AFR=0.3089;ExAC_AMR=0.1560;ExAC_EAS=0.2488;ExAC_FIN=0.2127;ExAC_NFE=0.2150;ExAC_OTH=0.1815;ExAC_SAS=0.1241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,18:57:99:542,0,1375 1 17084859 rs879039325 A G 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=75;ExcessHet=3.0103;FS=24.348;MLEAC=1;MLEAF=0.5;MQ=42.91;MQRankSum=-3.283;QD=4.32;ReadPosRankSum=-0.078;SOR=4.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs879039325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,16:75:99:352,0,2092 1 17084948 rs199741699 A C 1538.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.587;DP=186;ExcessHet=3.0103;FS=5.96;MLEAC=1;MLEAF=0.5;MQ=41.02;MQRankSum=-3.567;QD=8.27;ReadPosRankSum=0.372;SOR=1.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs199741699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3205;ExAC_AFR=0.4048;ExAC_AMR=0.2879;ExAC_EAS=0.4767;ExAC_FIN=0.3079;ExAC_NFE=0.2985;ExAC_OTH=0.3321;ExAC_SAS=0.2970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,71:186:99:1567,0,2764 1 17085165 rs2490828 G C 3703.77 PASS AC=2;AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.69;QD=32.78;SOR=1.63;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs2490828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9323;1000g2015aug_all=0.963259;esp6500siv2_all=.;ExAC_ALL=0.8811;ExAC_AFR=0.9432;ExAC_AMR=0.9108;ExAC_EAS=0.9971;ExAC_FIN=0.8167;ExAC_NFE=0.8417;ExAC_OTH=0.8684;ExAC_SAS=0.9699;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3732,339,0 1 17085502 rs2329006 T C 4550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=7.297;DP=351;ExcessHet=3.0103;FS=2.83;MLEAC=1;MLEAF=0.5;MQ=46.74;MQRankSum=-14.727;QD=12.97;ReadPosRankSum=0.576;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=exonic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MST1L:NM_001271733:exon10:c.A1189G:p.M397V;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs2329006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4899;ExAC_AFR=0.4460;ExAC_AMR=0.4925;ExAC_EAS=0.4972;ExAC_FIN=0.4933;ExAC_NFE=0.4920;ExAC_OTH=0.5;ExAC_SAS=0.4972;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:182,169:351:99:4579,0,4967 1 17085671 rs3863806 C G 1096.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-4.419;DP=283;ExcessHet=3.0103;FS=9.562;MLEAC=1;MLEAF=0.5;MQ=43.35;MQRankSum=-7.538;QD=3.88;ReadPosRankSum=3.396;SOR=0.332;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs3863806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4762;ExAC_AFR=0.4908;ExAC_AMR=0.4874;ExAC_EAS=0.4916;ExAC_FIN=0.4765;ExAC_NFE=0.4692;ExAC_OTH=0.4748;ExAC_SAS=0.4788;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:220,63:283:99:1125,0,6711 1 17085834 rs2005622 G T 2392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.34;DP=163;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.35;MQRankSum=-9.114;QD=14.68;ReadPosRankSum=-0.281;SOR=0.691;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=exonic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MST1L:NM_001271733:exon8:c.C987A:p.T329T;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs2005622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.7900;ExAC_AFR=0.8483;ExAC_AMR=0.8008;ExAC_EAS=0.7884;ExAC_FIN=0.8020;ExAC_NFE=0.7810;ExAC_OTH=0.7882;ExAC_SAS=0.7836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,87:163:99:2421,0,1979 1 17086870 rs2261727 T C 1512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=6.347;DP=198;ExcessHet=3.0103;FS=34.589;MLEAC=1;MLEAF=0.5;MQ=44.88;MQRankSum=-10.821;QD=7.64;ReadPosRankSum=-0.959;SOR=2.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=exonic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MST1L:NM_001271733:exon4:c.A454G:p.S152G;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs2261727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.503;1000g2015aug_afr=0.3472;1000g2015aug_amr=0.4553;1000g2015aug_all=0.500399;esp6500siv2_all=.;ExAC_ALL=0.1606;ExAC_AFR=0.1342;ExAC_AMR=0.1290;ExAC_EAS=0.3336;ExAC_FIN=0.1742;ExAC_NFE=0.1470;ExAC_OTH=0.2190;ExAC_SAS=0.1899;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:130,68:198:99:1541,0,3710 1 17087365 rs2446556 C G 7704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=9.854;DP=342;ExcessHet=3.0103;FS=24.388;MLEAC=1;MLEAF=0.5;MQ=40.62;MQRankSum=-14.99;QD=22.53;ReadPosRankSum=-2.343;SOR=1.084;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=exonic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MST1L:NM_001271733:exon3:c.G219C:p.A73A;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs2446556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5517;ExAC_AFR=0.5351;ExAC_AMR=0.6034;ExAC_EAS=0.5407;ExAC_FIN=0.5508;ExAC_NFE=0.5442;ExAC_OTH=0.5563;ExAC_SAS=0.5623;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,247:342:99:7733,0,2249 1 17087682 rs9725203 A G 1500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.304;DP=163;ExcessHet=3.0103;FS=17.778;MLEAC=1;MLEAF=0.5;MQ=45.17;MQRankSum=-7.714;QD=9.21;ReadPosRankSum=0.397;SOR=3.926;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMST1L;Func=intronic;Gene=NM_001271733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.990257\x3bName\x3echr1_KI270713v1_random:0;Repeat=.;avsnp150=rs9725203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,56:163:99:1529,0,3491 1 17099202 rs2262136 T A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e8227\x3bdist\x3e86242;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.992611\x3bName\x3echr1:234783386;Repeat=.;avsnp150=rs2262136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 17101392 rs3863818 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.52;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e10417\x3bdist\x3e84052;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.992611\x3bName\x3echr1:234783386;Repeat=.;avsnp150=rs3863818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17104267 rs2262228 C T 47.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.69;QD=15.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e13292\x3bdist\x3e81177;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.992611\x3bName\x3echr1:234783386;Repeat=Score\x3e1321\x3bName\x3e"33184:L2a(LINE)";avsnp150=rs2262228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:75,9,0 1 17176994 . G C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.4;MQRankSum=0.319;QD=12.69;ReadPosRankSum=-1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e86019\x3bdist\x3e8450;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 17183115 rs10888043 A G 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.29;QD=33.24;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e92140\x3bdist\x3e2329;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414128.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs10888043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 17183700 rs140733955 G A 494.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.232;DP=31;ExcessHet=3.0103;FS=6.327;MLEAC=1;MLEAF=0.5;MQ=41.16;MQRankSum=0.438;QD=15.96;ReadPosRankSum=1.741;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271733,NR_037446;GeneDetail=dist\x3e92725\x3bdist\x3e1744;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414128.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs140733955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.0905;1000g2015aug_afr=.;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0275559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,22:31:99:523,0,149 1 17185393 rs79436064 A C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.63;MQRankSum=-0.674;QD=8.75;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_037446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414128.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs79436064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:72:72,0,181 1 17185572 rs199942047 C G 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.221;DP=37;ExcessHet=3.0103;FS=4.247;MLEAC=1;MLEAF=0.5;MQ=45.8;MQRankSum=-1.928;QD=2.43;ReadPosRankSum=-0.371;SOR=1.773;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_037446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414128.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs199942047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,6:37:99:118,0,785 1 17195391 rs61769550 G C 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.536;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.13;MQRankSum=-4.918;QD=10.39;ReadPosRankSum=0.143;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e9875\x3bdist\x3e19642;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs61769550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.3285;1000g2015aug_all=0.372404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,22:46:99:506,0,582 1 17195413 rs74841770 C T 136.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.33;DP=46;ExcessHet=3.0103;FS=1.338;MLEAC=1;MLEAF=0.5;MQ=44.62;MQRankSum=-3.588;QD=2.97;ReadPosRankSum=0.56;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e9897\x3bdist\x3e19620;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs74841770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,10:46:99:165,0,917 1 17195472 rs61768103 T C 359.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=38;ExcessHet=3.0103;FS=5.105;MLEAC=1;MLEAF=0.5;MQ=45.48;MQRankSum=-4.578;QD=9.47;ReadPosRankSum=-0.829;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e9956\x3bdist\x3e19561;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs61768103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.379;1000g2015aug_all=0.364617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,16:38:99:388,0,648 1 17195501 rs200583366 C A 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.122;DP=26;ExcessHet=3.0103;FS=3.791;MLEAC=1;MLEAF=0.5;MQ=49.11;MQRankSum=-3.747;QD=7.53;ReadPosRankSum=0;SOR=1.561;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e9985\x3bdist\x3e19532;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs200583366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,9:26:99:224,0,490 1 17195517 rs12044919 T C 203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.242;DP=22;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=50.34;MQRankSum=-3.838;QD=9.7;ReadPosRankSum=1.059;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e10001\x3bdist\x3e19516;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs12044919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,6:21:99:232,0,474 1 17195521 . C T 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.538;DP=21;ExcessHet=3.0103;FS=5.518;MLEAC=1;MLEAF=0.5;MQ=50.45;MQRankSum=-3.248;QD=8.51;ReadPosRankSum=1.053;SOR=2.252;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e10005\x3bdist\x3e19512;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,6:21:99:207,0,612 1 17195580 rs12028760 C T 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.079;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.02;MQRankSum=-2.198;QD=13.7;ReadPosRankSum=-0.375;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e10064\x3bdist\x3e19453;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs12028760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:220,0,174 1 17197357 rs12045727 G A 517.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.53;QD=33.56;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e11841\x3bdist\x3e17676;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs12045727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.8429;1000g2015aug_all=0.847045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:546,42,0 1 17197563 rs7556482 G T 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.11;DP=174;ExcessHet=3.0103;FS=0.653;MLEAC=1;MLEAF=0.5;MQ=56.09;MQRankSum=-13.012;QD=5.41;ReadPosRankSum=-0.947;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e12047\x3bdist\x3e17470;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs7556482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3761;ExAC_AFR=0.4694;ExAC_AMR=0.3850;ExAC_EAS=0.4747;ExAC_FIN=0.4789;ExAC_NFE=0.4107;ExAC_OTH=0.4355;ExAC_SAS=0.3151;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:130,44:174:99:969,0,3793 1 17197685 rs7513766 G A 1255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.568;DP=156;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=56.53;MQRankSum=-8.943;QD=8.05;ReadPosRankSum=0.784;SOR=0.447;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e12169\x3bdist\x3e17348;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs7513766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:102,54:156:99:1284,0,2724 1 17197724 rs3897252 C G 1208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.463;DP=118;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=57.15;MQRankSum=-6.232;QD=10.24;ReadPosRankSum=1.191;SOR=0.494;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e12208\x3bdist\x3e17309;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs3897252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,49:118:99:1237,0,2050 1 17197801 rs1755367 C G 760.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.509;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.38;MQRankSum=-3.364;QD=18.11;ReadPosRankSum=0.75;SOR=0.336;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e12285\x3bdist\x3e17232;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs1755367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:789,0,625 1 17198381 rs35911560 T G 270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=5.694;DP=103;ExcessHet=3.0103;FS=21.457;MLEAC=1;MLEAF=0.5;MQ=47.46;MQRankSum=-5.836;QD=2.63;ReadPosRankSum=-0.352;SOR=3.189;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e12865\x3bdist\x3e16652;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs35911560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.3573;1000g2015aug_all=0.327676;esp6500siv2_all=.;ExAC_ALL=0.0045;ExAC_AFR=0.0098;ExAC_AMR=0.0066;ExAC_EAS=0.0463;ExAC_FIN=0;ExAC_NFE=0.0093;ExAC_OTH=0;ExAC_SAS=0.0013;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,18:103:99:299,0,2016 1 17198698 rs12091630 A T 339.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.41;QD=33.98;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e13182\x3bdist\x3e16335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=.;avsnp150=rs12091630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:368,30,0 1 17210324 rs7527946 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e24808\x3bdist\x3e4709;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=Score\x3e2013\x3bName\x3e"33285:AluSp(SINE)";avsnp150=rs7527946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8487;1000g2015aug_all=0.852835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17210325 rs61768147 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e24809\x3bdist\x3e4708;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=Score\x3e2013\x3bName\x3e"33285:AluSp(SINE)";avsnp150=rs61768147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8487;1000g2015aug_all=0.852835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17210330 rs7527948 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037446,NR_135059;GeneDetail=dist\x3e24814\x3bdist\x3e4703;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.974351\x3bName\x3echr1:16507044;Repeat=Score\x3e2013\x3bName\x3e"33285:AluSp(SINE)";avsnp150=rs7527948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8487;1000g2015aug_all=0.852835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17230279 rs7520653 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NM_014675;GeneDetail=dist\x3e7641\x3bdist\x3e18166;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.916598\x3bName\x3echr1:143720657;Repeat=Score\x3e508\x3bName\x3e"33335:LTR23-int(LTR)";avsnp150=rs7520653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17230423 rs56861070 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.967;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NM_014675;GeneDetail=dist\x3e7785\x3bdist\x3e18022;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.916598\x3bName\x3echr1:143720657;Repeat=Score\x3e508\x3bName\x3e"33335:LTR23-int(LTR)";avsnp150=rs56861070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 1 17230479 rs7520849 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NM_014675;GeneDetail=dist\x3e7841\x3bdist\x3e17966;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.916598\x3bName\x3echr1:143720657;Repeat=Score\x3e508\x3bName\x3e"33335:LTR23-int(LTR)";avsnp150=rs7520849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 17239086 rs7532283 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NM_014675;GeneDetail=dist\x3e16448\x3bdist\x3e9359;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs7532283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 17241987 rs7414011 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NM_014675;GeneDetail=dist\x3e19349\x3bdist\x3e6458;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=Score\x3e1822\x3bName\x3e"33360:AluJb(SINE)";avsnp150=rs7414011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 17248797 rs11203422 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.668;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=1.009;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs11203422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.376;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.028;1000g2015aug_amr=0.1859;1000g2015aug_all=0.196486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,4:18:99:113,0,494 1 17248885 rs6694144 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs6694144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.8372;1000g2015aug_all=0.838658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 17249395 rs6586567 A G 201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.282;DP=41;ExcessHet=3.0103;FS=6.34;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=-0.281;SOR=0.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=Score\x3e294\x3bName\x3e"33381:MIRc(SINE)";avsnp150=rs6586567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.8132;1000g2015aug_amr=0.6816;1000g2015aug_all=0.681709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,10:40:99:230,0,946 1 17250650 rs60010630 C T 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-0.619;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs60010630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.1484;1000g2015aug_all=0.180911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,218 1 17250762 rs58609892 G C 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.243;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=0.743;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs58609892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,13:41:99:318,0,805 1 17250836 rs57174186 A G 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.799;DP=66;ExcessHet=3.0103;FS=3.618;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-2.28;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon3:c.A213G:p.T71T;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs57174186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3413;ExAC_ALL=0.3367;ExAC_AFR=0.3872;ExAC_AMR=0.3081;ExAC_EAS=0.4356;ExAC_FIN=0.3474;ExAC_NFE=0.3351;ExAC_OTH=0.3485;ExAC_SAS=0.2748;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,22:66:99:483,0,1235 1 17251055 rs9435703 C T 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.143;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-2.754;SOR=0.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.937043\x3bName\x3echr1:16474442;Repeat=.;avsnp150=rs9435703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.5562;1000g2015aug_all=0.544728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,24:70:99:610,0,1372 1 17262942 rs7529769 G T 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=1.161;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e2204\x3bName\x3e"33417:AluSx3(SINE)";avsnp150=rs7529769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:99,0,942 1 17262944 rs7521985 A G 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.875;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=1.161;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e2204\x3bName\x3e"33417:AluSx3(SINE)";avsnp150=rs7521985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:99,0,942 1 17262953 rs7521989 A G 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.221;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e2204\x3bName\x3e"33417:AluSx3(SINE)";avsnp150=rs7521989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:138,0,939 1 17263290 rs57442576 G A 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.015;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.342;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CROCC:NM_014675:exon9:c.G1115A:p.R372Q;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs57442576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.152;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0926518;esp6500siv2_all=0.1083;ExAC_ALL=0.0941;ExAC_AFR=0.1637;ExAC_AMR=0.0434;ExAC_EAS=0.0338;ExAC_FIN=0.0839;ExAC_NFE=0.1009;ExAC_OTH=0.0806;ExAC_SAS=0.0985;SIFT_score=0.085;SIFT_pred=T;Polyphen2_HDIV_score=0.135;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.8;FATHMM_pred=T;phyloP100way_vertebrate=0.308;phyloP20way_mammalian=-1.245;SiPhy_29way_logOdds=10.356;gerp++gt2=.;CADD=1.976;CADD_Phred=16.06;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:159,0,326 1 17264863 rs4275496 A G 239.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.98;ReadPosRankSum=-0.887;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4275496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4636;ExAC_AFR=0.5208;ExAC_AMR=0.4572;ExAC_EAS=0.4863;ExAC_FIN=0.4944;ExAC_NFE=0.4504;ExAC_OTH=0.4396;ExAC_SAS=0.4531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:268,0,18 1 17264890 rs72644310 T G 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.295;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs72644310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0489;ExAC_ALL=0.0546;ExAC_AFR=0.0104;ExAC_AMR=0.0332;ExAC_EAS=0;ExAC_FIN=0.2547;ExAC_NFE=0.0965;ExAC_OTH=0.0467;ExAC_SAS=0.0134;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,303 1 17264920 rs4463721 C T 129.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.037;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=0.897;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CROCC:NM_014675:exon11:c.C1316T:p.A439V;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4463721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4003;ExAC_AFR=0.4154;ExAC_AMR=0.4511;ExAC_EAS=0.4803;ExAC_FIN=0.4577;ExAC_NFE=0.4165;ExAC_OTH=0.4116;ExAC_SAS=0.2962;SIFT_score=0.318;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.992;MutationTaster_pred=N;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=2.68;FATHMM_pred=T;phyloP100way_vertebrate=0.043;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=10.945;gerp++gt2=4.81;CADD=3.136;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,5:17:99:158,0,416 1 17264939 rs4558023 T C 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.266;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.87;ReadPosRankSum=0.748;SOR=0.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon11:c.T1335C:p.D445D;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4558023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4080;ExAC_AFR=0.4210;ExAC_AMR=0.4530;ExAC_EAS=0.4812;ExAC_FIN=0.4631;ExAC_NFE=0.4232;ExAC_OTH=0.4158;ExAC_SAS=0.3030;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,5:25:99:100,0,600 1 17265171 rs4269814 A G 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.234;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=0.569;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4269814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,16:20:39:506,0,39 1 17265327 rs4269813 A G 1474.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.604;DP=72;ExcessHet=3.0103;FS=2.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.248;SOR=1.175;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4269813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,51:72:99:1503,0,461 1 17265366 rs4269812 C G 697.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.153;DP=96;ExcessHet=3.0103;FS=4.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=-0.278;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs4269812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3367;ExAC_ALL=0.3435;ExAC_AFR=0.4006;ExAC_AMR=0.3153;ExAC_EAS=0.4404;ExAC_FIN=0.3457;ExAC_NFE=0.3403;ExAC_OTH=0.3762;ExAC_SAS=0.2881;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,33:96:99:726,0,1902 1 17265560 rs9435793 C T 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.659;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.945;SOR=0.727;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CROCC:NM_014675:exon12:c.C1531T:p.P511S;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs9435793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3898;ExAC_AFR=0.4256;ExAC_AMR=0.3720;ExAC_EAS=0.4628;ExAC_FIN=0.4178;ExAC_NFE=0.3852;ExAC_OTH=0.4216;ExAC_SAS=0.3465;SIFT_score=0.217;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.888;MutationTaster_pred=N;MutationAssessor_score=0.82;MutationAssessor_pred=L;FATHMM_score=3.0;FATHMM_pred=T;phyloP100way_vertebrate=1.342;phyloP20way_mammalian=0.931;SiPhy_29way_logOdds=8.338;gerp++gt2=4.42;CADD=2.197;CADD_Phred=17.49;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,15:42:99:391,0,865 1 17266117 rs12049289 G T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.328;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=53.24;MQRankSum=-1.579;QD=11.25;ReadPosRankSum=0;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs12049289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:107,0,70 1 17266536 rs9435714 G C 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.483;DP=30;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-0.749;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CROCC:NM_014675:exon13:c.G1756C:p.D586H;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs9435714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2566;ExAC_AFR=0.1719;ExAC_AMR=0.2157;ExAC_EAS=0.4145;ExAC_FIN=0.2473;ExAC_NFE=0.2537;ExAC_OTH=0.3025;ExAC_SAS=0.2611;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.990;MutationTaster_pred=D;MutationAssessor_score=2.215;MutationAssessor_pred=M;FATHMM_score=2.82;FATHMM_pred=T;phyloP100way_vertebrate=7.569;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=11.879;gerp++gt2=4.08;CADD=5.102;CADD_Phred=25.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,10:30:99:225,0,575 1 17267302 rs6586577 A G 680.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.576;DP=46;ExcessHet=3.0103;FS=2.577;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.299;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e567\x3bName\x3e"33428:AluJr4(SINE)";avsnp150=rs6586577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4574;ExAC_AFR=0.4041;ExAC_AMR=0.4182;ExAC_EAS=0.4940;ExAC_FIN=0.5;ExAC_NFE=0.4390;ExAC_OTH=0.4583;ExAC_SAS=0.5054;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,26:46:99:709,0,481 1 17267496 rs6586578 C T 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.896;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-1.266;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e872\x3bName\x3e"33429:AluJb(SINE)";avsnp150=rs6586578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4022;ExAC_AFR=0.3411;ExAC_AMR=0.3175;ExAC_EAS=0.4896;ExAC_FIN=0.4688;ExAC_NFE=0.3852;ExAC_OTH=0.4483;ExAC_SAS=0.4285;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:162,0,333 1 17270289 rs12025116 G A 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.536;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs12025116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:96:96,0,230 1 17270498 rs9435717 T G 364.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.635;DP=47;ExcessHet=3.0103;FS=2.654;MLEAC=1;MLEAF=0.5;MQ=59.3;MQRankSum=-1.867;QD=7.76;ReadPosRankSum=0.41;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e197\x3bName\x3e"33440:L2c(LINE)";avsnp150=rs9435717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.3012;1000g2015aug_all=0.327476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,17:47:99:393,0,759 1 17272436 rs3867302 A G 813.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.864;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.65;MQRankSum=-1.414;QD=24.66;ReadPosRankSum=-0.662;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs3867302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.5098;1000g2015aug_amr=0.4395;1000g2015aug_all=0.440096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,29:33:68:842,0,68 1 17272503 rs115462841 G T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.515;DP=40;ExcessHet=3.0103;FS=1.494;MLEAC=1;MLEAF=0.5;MQ=57.16;MQRankSum=-0.602;QD=3.02;ReadPosRankSum=-1.506;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs115462841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.1556;1000g2015aug_all=0.147564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,8:40:99:149,0,912 1 17273396 rs7537468 A G 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.313;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.459;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon17:c.A2424G:p.L808L;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs7537468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.1210;ExAC_ALL=0.2735;ExAC_AFR=0.0716;ExAC_AMR=0.3420;ExAC_EAS=0.4630;ExAC_FIN=0.3523;ExAC_NFE=0.2901;ExAC_OTH=0.2967;ExAC_SAS=0.2507;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:492,0,546 1 17273444 rs7545185 G A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.476;DP=23;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.154;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon17:c.G2472A:p.T824T;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs7545185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.1106;ExAC_ALL=0.2456;ExAC_AFR=0.0696;ExAC_AMR=0.2829;ExAC_EAS=0.4569;ExAC_FIN=0.3193;ExAC_NFE=0.2552;ExAC_OTH=0.2783;ExAC_SAS=0.2407;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:374,0,322 1 17273493 rs7537563 A C 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.072;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.76;ReadPosRankSum=1.009;SOR=1.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs7537563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4583;ExAC_AFR=0.5312;ExAC_AMR=0.4619;ExAC_EAS=0.4868;ExAC_FIN=0.4821;ExAC_NFE=0.4640;ExAC_OTH=0.4474;ExAC_SAS=0.4333;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,15:18:37:402,0,37 1 17275054 rs6698564 G C 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.521;DP=13;ExcessHet=3.0103;FS=2.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.211;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs6698564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2997;1000g2015aug_all=0.329872;esp6500siv2_all=.;ExAC_ALL=0.4298;ExAC_AFR=0.4534;ExAC_AMR=0.3872;ExAC_EAS=0.4799;ExAC_FIN=0.4423;ExAC_NFE=0.4154;ExAC_OTH=0.4615;ExAC_SAS=0.4327;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:136,0,295 1 17275072 rs6690301 A G 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.29;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.79;SOR=0.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs6690301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,244 1 17275102 rs12081151 C G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.559;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.732;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs12081151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.1628;1000g2015aug_all=0.168131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,155 1 17275622 rs142513742 G T 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.76;MQRankSum=1.201;QD=9.23;ReadPosRankSum=0.389;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e599\x3bName\x3e"33454:MIRb(SINE)";avsnp150=rs142513742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,222 1 17280022 rs78911909 A T 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.077;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=56.21;MQRankSum=-0.483;QD=12.14;ReadPosRankSum=2.091;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs78911909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.1873;1000g2015aug_all=0.225639;esp6500siv2_all=0.2088;ExAC_ALL=0.1682;ExAC_AFR=0.2941;ExAC_AMR=0.1787;ExAC_EAS=0.0894;ExAC_FIN=0.1546;ExAC_NFE=0.1460;ExAC_OTH=0.1085;ExAC_SAS=0.2112;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:186,0,1655 1 17280025 rs78271317 T C 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.4;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.88;MQRankSum=-0.349;QD=13.15;ReadPosRankSum=1.791;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs78271317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.1873;1000g2015aug_all=0.225639;esp6500siv2_all=0.2006;ExAC_ALL=0.1636;ExAC_AFR=0.2919;ExAC_AMR=0.1677;ExAC_EAS=0.0856;ExAC_FIN=0.1497;ExAC_NFE=0.1415;ExAC_OTH=0.1059;ExAC_SAS=0.2078;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:186,0,1655 1 17280045 rs74875673 T C 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.31;MQRankSum=-0.786;QD=17.15;ReadPosRankSum=-0.079;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs74875673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.1873;1000g2015aug_all=0.223642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,1568 1 17280051 rs80127908 T C 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.31;MQRankSum=-0.786;QD=17.15;ReadPosRankSum=-0.155;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs80127908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.1873;1000g2015aug_all=0.223043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,1568 1 17280057 rs75402831 G A 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.289;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.31;MQRankSum=-0.786;QD=17.15;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs75402831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.1873;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:234,0,1568 1 17280061 rs74666933 G T 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.389;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.76;MQRankSum=-1.044;QD=18.71;ReadPosRankSum=0.709;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs74666933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.1873;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:234,0,1568 1 17280085 rs77179827 C T 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.95;MQRankSum=0;QD=22.29;ReadPosRankSum=-1.834;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs77179827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.1888;1000g2015aug_all=0.224641;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:99:162,0,890 1 17280107 rs141676483 T C 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.16;MQRankSum=-0.674;QD=18.35;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=Score\x3e381\x3bName\x3e"33469:MIRb(SINE)";avsnp150=rs141676483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.1873;1000g2015aug_all=0.222644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,893 1 17280578 rs147342078 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.938224\x3bName\x3echr1:16618963;Repeat=.;avsnp150=rs147342078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.675;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.7435;1000g2015aug_all=0.677716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 17282425 rs2143808 G A 349.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.064;DP=17;ExcessHet=3.0103;FS=2.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=0.17;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2143808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.1628;1000g2015aug_all=0.160343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,13:17:82:378,0,82 1 17282573 rs2273114 G A 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.015;DP=28;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=2.142;SOR=0.825;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon25:c.G3786A:p.G1262G;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.1628;1000g2015aug_all=0.160343;esp6500siv2_all=0.1204;ExAC_ALL=0.1711;ExAC_AFR=0.1726;ExAC_AMR=0.1609;ExAC_EAS=0.1238;ExAC_FIN=0.3;ExAC_NFE=0.1388;ExAC_OTH=0.125;ExAC_SAS=0.2094;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,17:28:99:519,0,273 1 17285022 rs12097969 A G 310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.403;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=0.123;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2746;1000g2015aug_amr=0.1715;1000g2015aug_all=0.184904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,10:15:99:339,0,118 1 17285298 rs41300134 C T 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.553;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41300134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.1628;1000g2015aug_all=0.159345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:251,0,211 1 17285464 rs56013652 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e435\x3bName\x3e"33480:MIRb(SINE)";avsnp150=rs56013652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.1715;1000g2015aug_all=0.1873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 17287639 rs2273112 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-1.006;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=intronic;Gene=NM_014675;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.1614;1000g2015aug_all=0.159345;esp6500siv2_all=.;ExAC_ALL=0.4441;ExAC_AFR=0.3333;ExAC_AMR=0.5;ExAC_EAS=0.2;ExAC_FIN=.;ExAC_NFE=0.3125;ExAC_OTH=0.25;ExAC_SAS=0.4677;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:68:71,0,68 1 17295679 rs4920574 T C 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.888;DP=60;ExcessHet=3.0103;FS=1.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=1.457;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=exonic;Gene=NM_014675;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CROCC:NM_014675:exon32:c.T5145C:p.A1715A;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9663;1000g2015aug_sas=0.907;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9496;1000g2015aug_all=0.944688;esp6500siv2_all=0.9264;ExAC_ALL=0.9155;ExAC_AFR=0.9821;ExAC_AMR=0.9612;ExAC_EAS=0.9653;ExAC_FIN=0.9146;ExAC_NFE=0.8959;ExAC_OTH=0.9308;ExAC_SAS=0.8955;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,27:60:99:744,0,870 1 17299014 rs6661019 A C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.422;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.21;ReadPosRankSum=-0.346;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCROCC;Func=UTR3;Gene=NM_014675;GeneDetail=NM_014675:c.*73A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375541.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.5499;1000g2015aug_amr=0.5245;1000g2015aug_all=0.551118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:140,0,784 1 17301448 rs2235933 C T 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.532;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.45;MQRankSum=1.614;QD=23.26;ReadPosRankSum=-0.235;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFAP2;Func=exonic;Gene=NM_001135247,NM_001135248,NM_002403,NM_017459;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MFAP2:NM_001135247:exon9:c.G516A:p.A172A,MFAP2:NM_001135248:exon9:c.G516A:p.A172A,MFAP2:NM_002403:exon9:c.G519A:p.A173A,MFAP2:NM_017459:exon9:c.G519A:p.A173A;Gencode=Name\x3eENST00000375534.7,ENST00000375535.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.999258\x3bName\x3echr1:246818006;Repeat=.;avsnp150=rs2235933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.389;1000g2015aug_all=0.341054;esp6500siv2_all=.;ExAC_ALL=0.3551;ExAC_AFR=0.2583;ExAC_AMR=0.39;ExAC_EAS=0.6461;ExAC_FIN=0.4231;ExAC_NFE=0.3438;ExAC_OTH=0.4310;ExAC_SAS=0.3500;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:447,0,184 1 17302835 rs115465875 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.113;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFAP2;Func=intronic;Gene=NM_001135247,NM_001135248,NM_002403,NM_017459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375535.3,ENST00000375534.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115465875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 17303792 rs4920588 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.81;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.494;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFAP2;Func=intronic;Gene=NM_001135247,NM_001135248,NM_002403,NM_017459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375534.7,ENST00000375535.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.7126;1000g2015aug_amr=0.8804;1000g2015aug_all=0.779353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:252,0,404 1 17313283 rs56146840 C T 596.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.279;DP=42;ExcessHet=3.0103;FS=1.249;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.496;SOR=0.431;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341676.9,ENST00000446261.1,ENST00000326735.12,ENST00000452699.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56146840;cosmic70=.;CLNALLELEID=249527;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0139776;esp6500siv2_all=0.0249;ExAC_ALL=0.0268;ExAC_AFR=0.0260;ExAC_AMR=0.0273;ExAC_EAS=0;ExAC_FIN=0.0335;ExAC_NFE=0.0314;ExAC_OTH=0.0491;ExAC_SAS=0.0194;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:625,0,455 1 17313517 rs55885047 G A 815.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.686;DP=43;ExcessHet=3.0103;FS=2.898;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=-1.601;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446261.1,ENST00000341676.9,ENST00000326735.12,ENST00000452699.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55885047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.0173;1000g2015aug_all=0.013778;esp6500siv2_all=0.0253;ExAC_ALL=0.0225;ExAC_AFR=0.0223;ExAC_AMR=0.0215;ExAC_EAS=0;ExAC_FIN=0.0235;ExAC_NFE=0.0266;ExAC_OTH=0.0406;ExAC_SAS=0.0174;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,30:43:99:844,0,347 1 17319011 rs2076603 G A 914.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.244;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.864;SOR=0.783;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=exonic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P;Gencode=Name\x3eENST00000341676.9,ENST00000446261.1,ENST00000452699.5,ENST00000326735.12;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076603;cosmic70=.;CLNALLELEID=133914;CLNDN=Parkinson_disease_9|not_specified;CLNDISDB=MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2589;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.5216;1000g2015aug_all=0.448482;esp6500siv2_all=0.5693;ExAC_ALL=0.5540;ExAC_AFR=0.4426;ExAC_AMR=0.5381;ExAC_EAS=0.2867;ExAC_FIN=0.5433;ExAC_NFE=0.6189;ExAC_OTH=0.5640;ExAC_SAS=0.5165;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,30:79:99:943,0,1518 1 17319287 rs4920608 C T 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.044;DP=25;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.027;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452699.5,ENST00000326735.12,ENST00000341676.9,ENST00000446261.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e533\x3bName\x3e"33562:MIRb(SINE)";avsnp150=rs4920608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.4138;1000g2015aug_amr=0.5216;1000g2015aug_all=0.448283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,12:25:99:309,0,400 1 17323070 rs183590584 G A 349.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.327;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.693;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617114.4,ENST00000452699.5,ENST00000326735.12,ENST00000446261.1,ENST00000341676.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183590584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0099;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:378,0,380 1 17328301 rs2871776 T C 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=0.712;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341676.9,ENST00000446261.1,ENST00000617114.4,ENST00000326735.12,ENST00000452699.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2871776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.536;1000g2015aug_all=0.638578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,186 1 17331676 rs3738814 A G 977.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.308;DP=79;ExcessHet=3.0103;FS=3.1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.358;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP13A2;Func=intronic;Gene=NM_001141973,NM_001141974,NM_022089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341676.9,ENST00000617114.4,ENST00000326735.12,ENST00000452699.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"33596:MIR3(SINE)";avsnp150=rs3738814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHeight;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.5202;1000g2015aug_all=0.603035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,38:79:99:1006,0,1073 1 17350143 rs2235930 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.431;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.547;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.736;1000g2015aug_amr=0.5;1000g2015aug_all=0.598043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 17350238 rs2746471 A G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2746471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9914;1000g2015aug_all=0.988818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,155 1 17350243 rs2647162 T C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0853;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.5756;1000g2015aug_amr=0.1369;1000g2015aug_all=0.246006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,155 1 17355387 rs2746469 T C 123.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.78;ReadPosRankSum=0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"33658:(TTCC)n(Simple_repeat)";avsnp150=rs2746469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9769;1000g2015aug_all=0.959065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:15:152,0,15 1 17359676 rs1022580 C A 678.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.996;DP=61;ExcessHet=3.0103;FS=3.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.058;SOR=1.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1022580;cosmic70=.;CLNALLELEID=249532;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9769;1000g2015aug_all=0.959065;esp6500siv2_all=0.9523;ExAC_ALL=0.9719;ExAC_AFR=0.9135;ExAC_AMR=0.9869;ExAC_EAS=0.9985;ExAC_FIN=0.9798;ExAC_NFE=0.9699;ExAC_OTH=0.9808;ExAC_SAS=0.9873;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,27:61:99:707,0,845 1 17371152 rs12073028 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.253;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=intronic;Gene=NM_003000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12073028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.455;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.5331;1000g2015aug_all=0.475439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 17380497 rs2746462 G T 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.074;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDHB;Func=exonic;Gene=NM_003000;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SDHB:NM_003000:exon1:c.C18A:p.A6A;Gencode=Name\x3eENST00000375499.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2746462;cosmic70=.;CLNALLELEID=53808;CLNDN=Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|Paraganglioma_and_gastric_stromal_sarcoma|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1847319,OMIM:606864,Orphanet:ORPHA97286|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.9769;1000g2015aug_all=0.957069;esp6500siv2_all=0.9515;ExAC_ALL=0.9721;ExAC_AFR=0.9100;ExAC_AMR=0.9875;ExAC_EAS=0.9986;ExAC_FIN=0.9812;ExAC_NFE=0.9701;ExAC_OTH=0.9789;ExAC_SAS=0.9878;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,188 1 17396408 rs6701620 T C 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-1.383;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e350\x3bName\x3e"33778:MIRc(SINE)";avsnp150=rs6701620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.9741;1000g2015aug_all=0.947684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 17398301 rs2647206 C G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=2.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9732;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.9914;1000g2015aug_all=0.983227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 17402347 rs2647205 C T 1445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.012;DP=139;ExcessHet=3.0103;FS=1.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.497;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9732;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.9914;1000g2015aug_all=0.983227;esp6500siv2_all=0.9709;ExAC_ALL=0.9779;ExAC_AFR=0.9674;ExAC_AMR=0.9910;ExAC_EAS=0.9985;ExAC_FIN=0.9799;ExAC_NFE=0.9719;ExAC_OTH=0.9878;ExAC_SAS=0.9875;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,57:138:99:1474,0,2238 1 17402420 rs2647204 A G 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.517;DP=76;ExcessHet=3.0103;FS=1.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.169;SOR=0.456;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.455;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.4327;1000g2015aug_amr=0.4078;1000g2015aug_all=0.442292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,30:76:99:808,0,1403 1 17402606 rs2647203 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.453;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.4049;1000g2015aug_all=0.4377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 17406015 rs2057093 C T 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.251;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.204;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375481.1,ENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2057093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.8593;1000g2015aug_amr=0.9424;1000g2015aug_all=0.913339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:253,0,310 1 17409017 rs2076617 G A 307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.369;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=1.915;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.389;1000g2015aug_all=0.395367;esp6500siv2_all=0.3042;ExAC_ALL=0.3502;ExAC_AFR=0.2730;ExAC_AMR=0.3624;ExAC_EAS=0.5904;ExAC_FIN=0.3962;ExAC_NFE=0.3093;ExAC_OTH=0.3541;ExAC_SAS=0.4110;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:336,0,617 1 17409241 rs2235925 G A 492.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.685;DP=39;ExcessHet=3.0103;FS=1.294;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.17;SOR=0.498;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.4164;1000g2015aug_all=0.478035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:521,0,464 1 17410557 rs730387 G A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.006;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs730387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.3847;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 17412770 rs2647185 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375481.1,ENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9856;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17413121 rs2076615 A C 1320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.973;DP=130;ExcessHet=3.0103;FS=0.659;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-2.239;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=exonic;Gene=NM_007365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI2:NM_007365:exon7:c.T729G:p.G243G;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.267;1000g2015aug_amr=0.2939;1000g2015aug_all=0.363618;esp6500siv2_all=0.2513;ExAC_ALL=0.2969;ExAC_AFR=0.2540;ExAC_AMR=0.2679;ExAC_EAS=0.5703;ExAC_FIN=0.3582;ExAC_NFE=0.2401;ExAC_OTH=0.3075;ExAC_SAS=0.4046;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,55:130:99:1349,0,2227 1 17413459 rs2076614 G A 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=-2.1;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.3718;1000g2015aug_all=0.408147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:66:211,0,66 1 17418883 rs2647184 A G 1062.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.16;DP=70;ExcessHet=3.0103;FS=4.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.188;SOR=1.361;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.9813;1000g2015aug_all=0.975639;esp6500siv2_all=0.9497;ExAC_ALL=0.9556;ExAC_AFR=0.9616;ExAC_AMR=0.9786;ExAC_EAS=0.9984;ExAC_FIN=0.9601;ExAC_NFE=0.9372;ExAC_OTH=0.9654;ExAC_SAS=0.9865;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,36:70:99:1091,0,1004 1 17419024 rs11203297 G A 2308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.403;DP=153;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.096;SOR=0.672;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=exonic;Gene=NM_007365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI2:NM_007365:exon6:c.C534T:p.L178L;Gencode=Name\x3eENST00000375481.1,ENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.3631;1000g2015aug_all=0.28135;esp6500siv2_all=0.1679;ExAC_ALL=0.2479;ExAC_AFR=0.1112;ExAC_AMR=0.3819;ExAC_EAS=0.4983;ExAC_FIN=0.3032;ExAC_NFE=0.1903;ExAC_OTH=0.2562;ExAC_SAS=0.3221;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,86:153:99:2337,0,1759 1 17429774 rs2235909 G T 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=1.434;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375486.8,ENST00000375481.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.4798;1000g2015aug_all=0.48143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,169 1 17431277 rs6701159 G T 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-0.108;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375481.1,ENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e667\x3bName\x3e"33858:MER33(DNA)";avsnp150=rs6701159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.5983;1000g2015aug_amr=0.7032;1000g2015aug_all=0.711462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,186 1 17431618 rs11203300 A G 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.998;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.852;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI2;Func=intronic;Gene=NM_007365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375481.1,ENST00000375486.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.7699;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.7435;1000g2015aug_all=0.696685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:203,0,166 1 17539095 rs2977280 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e320\x3bName\x3e"34153:L3(LINE)";avsnp150=rs2977280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.8069;1000g2015aug_all=0.718251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17550121 rs2293912 G A 513.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.731;DP=42;ExcessHet=3.0103;FS=1.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.435;SOR=0.452;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=exonic;Gene=NM_013358;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI1:NM_013358:exon3:c.G279A:p.R93R;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293912;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.3084;1000g2015aug_all=0.146765;esp6500siv2_all=0.1242;ExAC_ALL=0.1662;ExAC_AFR=0.0587;ExAC_AMR=0.3570;ExAC_EAS=0.1437;ExAC_FIN=0.1334;ExAC_NFE=0.1577;ExAC_OTH=0.1391;ExAC_SAS=0.1610;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:542,0,608 1 17550225 rs3003481 T C 2759.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9971;1000g2015aug_all=0.996805;esp6500siv2_all=0.9978;ExAC_ALL=0.9994;ExAC_AFR=0.9947;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2788,255,0 1 17550303 rs2293913 T C 1162.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.183;DP=80;ExcessHet=3.0103;FS=4.351;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.393;SOR=1.211;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.245;1000g2015aug_all=0.236821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,44:80:99:1191,0,923 1 17550314 rs2293914 G A 812.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.19;DP=79;ExcessHet=3.0103;FS=3.023;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.388;SOR=0.422;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.3141;1000g2015aug_all=0.160543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,38:79:99:841,0,1095 1 17550601 rs3003482 G A 521.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.11;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.6104;1000g2015aug_amr=0.8516;1000g2015aug_all=0.705871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:550,42,0 1 17551034 rs2293915 A T 563.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.106;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.49;ReadPosRankSum=-0.445;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.4323;1000g2015aug_all=0.415335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,17:24:99:592,0,219 1 17552875 rs2977290 A G 628.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e308\x3bName\x3e"34180:MIRb(SINE)";avsnp150=rs2977290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.833;1000g2015aug_afr=0.6445;1000g2015aug_amr=0.8718;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:657,57,0 1 17555316 rs2977233 C G 353.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.768;DP=34;ExcessHet=3.0103;FS=1.464;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.577;SOR=0.438;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2977233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0923;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.3396;1000g2015aug_amr=0.2954;1000g2015aug_all=0.295527;esp6500siv2_all=0.3757;ExAC_ALL=0.3579;ExAC_AFR=0.3541;ExAC_AMR=0.3035;ExAC_EAS=0.0837;ExAC_FIN=0.3802;ExAC_NFE=0.4011;ExAC_OTH=0.3587;ExAC_SAS=0.3594;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:382,0,721 1 17557039 rs10888010 T C 1449.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.2;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.3458;1000g2015aug_all=0.480232;esp6500siv2_all=0.4681;ExAC_ALL=0.4694;ExAC_AFR=0.5800;ExAC_AMR=0.3326;ExAC_EAS=0.4720;ExAC_FIN=0.4718;ExAC_NFE=0.4611;ExAC_OTH=0.4174;ExAC_SAS=0.4996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1478,114,0 1 17557133 rs3003406 A C 3427.77 PASS AC=2;AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.279;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=exonic;Gene=NM_013358;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI1:NM_013358:exon10:c.A1120C:p.R374R;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3199;1000g2015aug_all=0.407947;esp6500siv2_all=0.4125;ExAC_ALL=0.4193;ExAC_AFR=0.4200;ExAC_AMR=0.2639;ExAC_EAS=0.3643;ExAC_FIN=0.4492;ExAC_NFE=0.4336;ExAC_OTH=0.3790;ExAC_SAS=0.4862;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,105:105:99:3456,315,0 1 17557178 rs2977235 C T 3728.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2977235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.328;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.281;1000g2015aug_all=0.358427;esp6500siv2_all=0.3299;ExAC_ALL=0.3562;ExAC_AFR=0.4112;ExAC_AMR=0.2645;ExAC_EAS=0.3222;ExAC_FIN=0.3895;ExAC_NFE=0.3422;ExAC_OTH=0.3468;ExAC_SAS=0.4342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:3757,363,0 1 17557310 rs3003407 G A 1623.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.3415;1000g2015aug_all=0.461062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1652,126,0 1 17557426 rs2977236 C G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2977236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.498;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.3256;1000g2015aug_all=0.421326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 17559069 rs4309027 A G 178.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e693\x3bName\x3e"34198:L1M5(LINE)";avsnp150=rs4309027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.2248;1000g2015aug_all=0.317492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:207,15,0 1 17559196 rs4268393 T C 328.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4268393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.2248;1000g2015aug_all=0.314896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:357,33,0 1 17559656 rs3750296 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3750296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2103;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.304;1000g2015aug_all=0.378195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 17563967 rs2977306 T C 1937.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=1.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2977306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.592;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.3991;1000g2015aug_all=0.484026;esp6500siv2_all=0.4549;ExAC_ALL=0.4396;ExAC_AFR=0.5213;ExAC_AMR=0.3227;ExAC_EAS=0.4119;ExAC_FIN=0.3787;ExAC_NFE=0.4300;ExAC_OTH=0.4261;ExAC_SAS=0.5682;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1966,177,0 1 17564895 rs2977309 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e267\x3bName\x3e"34216:L2b(LINE)";avsnp150=rs2977309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9524;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.9063;1000g2015aug_all=0.899161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 17564990 rs2977310 T C 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e267\x3bName\x3e"34216:L2b(LINE)";avsnp150=rs2977310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.635;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.4438;1000g2015aug_all=0.533347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 17570286 rs2977222 T C 474.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2977222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:503,39,0 1 17570466 rs2293921 T C 1697.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI1;Func=intronic;Gene=NM_013358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375471.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.5983;1000g2015aug_amr=0.4236;1000g2015aug_all=0.512181;esp6500siv2_all=0.4926;ExAC_ALL=0.4834;ExAC_AFR=0.6008;ExAC_AMR=0.3678;ExAC_EAS=0.4428;ExAC_FIN=0.4509;ExAC_NFE=0.4721;ExAC_OTH=0.4540;ExAC_SAS=0.5736;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1726,141,0 1 17575645 rs3763589 A C 2104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.137;DP=150;ExcessHet=3.0103;FS=9.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.075;SOR=0.642;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=exonic;Gene=NM_016233;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI3:NM_016233:exon1:c.A13C:p.R5R;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3763589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.229;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.031;1000g2015aug_amr=0.1239;1000g2015aug_all=0.116014;esp6500siv2_all=0.0634;ExAC_ALL=0.0954;ExAC_AFR=0.0358;ExAC_AMR=0.1279;ExAC_EAS=0.1542;ExAC_FIN=0.0501;ExAC_NFE=0.0707;ExAC_OTH=0.0960;ExAC_SAS=0.1972;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,79:150:99:2133,0,1851 1 17585767 rs147207376 T C 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=-1.282;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2067\x3bName\x3e"34262:AluSz(SINE)";avsnp150=rs147207376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.2089;1000g2015aug_all=0.180112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:72:162,0,72 1 17585768 rs140310293 G C 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=-1.282;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2067\x3bName\x3e"34262:AluSz(SINE)";avsnp150=rs140310293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.1326;1000g2015aug_all=0.121006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:72:162,0,72 1 17585837 rs6679788 A C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.349;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2067\x3bName\x3e"34262:AluSz(SINE)";avsnp150=rs6679788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1002;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.1556;1000g2015aug_all=0.183906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,218 1 17586010 rs45438395 G A 1508.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.602;DP=93;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-1.199;SOR=1.062;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e206\x3bName\x3e"34263:L2c(LINE)";avsnp150=rs45438395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1326;1000g2015aug_all=0.121006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,53:93:99:1537,0,1063 1 17586134 rs3750300 A G 2259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.546;DP=161;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.885;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=exonic;Gene=NM_016233;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI3:NM_016233:exon2:c.A154G:p.I52V;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3750300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.1354;1000g2015aug_all=0.133986;esp6500siv2_all=0.0890;ExAC_ALL=0.1095;ExAC_AFR=0.0848;ExAC_AMR=0.1352;ExAC_EAS=0.1590;ExAC_FIN=0.0579;ExAC_NFE=0.0847;ExAC_OTH=0.1117;ExAC_SAS=0.2030;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.415;MutationAssessor_pred=N;FATHMM_score=3.08;FATHMM_pred=T;phyloP100way_vertebrate=-0.013;phyloP20way_mammalian=-1.278;SiPhy_29way_logOdds=9.231;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,90:161:99:2288,0,1832 1 17592324 rs2272627 T C 1604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.637;DP=94;ExcessHet=3.0103;FS=4.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.28;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.1484;1000g2015aug_all=0.177716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,44:94:99:1633,0,2756 1 17592330 rs77094783 G A 1528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.15;DP=85;ExcessHet=3.0103;FS=3.338;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.022;SOR=0.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77094783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0591054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,40:85:99:1557,0,2707 1 17593144 rs2272628 C G 1958.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.4583;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.4222;1000g2015aug_all=0.527756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1987,180,0 1 17593316 rs2272629 G A 1106.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.346;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.796;SOR=0.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=exonic;Gene=NM_016233;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI3:NM_016233:exon5:c.G511A:p.V171M;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.0875;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.1239;1000g2015aug_all=0.119808;esp6500siv2_all=0.0642;ExAC_ALL=0.1009;ExAC_AFR=0.0329;ExAC_AMR=0.1289;ExAC_EAS=0.1539;ExAC_FIN=0.0952;ExAC_NFE=0.0747;ExAC_OTH=0.1101;ExAC_SAS=0.2042;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.921;Polyphen2_HVAR_pred=D;LRT_score=0.008;LRT_pred=N;MutationTaster_score=0.481;MutationTaster_pred=P;MutationAssessor_score=2.525;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_pred=T;phyloP100way_vertebrate=2.174;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=9.398;gerp++gt2=3.94;CADD=3.902;CADD_Phred=23.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,44:94:99:1135,0,1212 1 17594592 rs4339902 G A 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.571;DP=26;ExcessHet=3.0103;FS=3.188;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.797;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4339902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.2277;1000g2015aug_all=0.277556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:397,0,453 1 17594645 rs4262594 A G 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4262594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.2205;1000g2015aug_all=0.264377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 17597181 rs10888013 A G 351.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.5983;1000g2015aug_amr=0.4265;1000g2015aug_all=0.520767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:380,30,0 1 17597721 rs4595409 A G 536.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4595409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.2651;1000g2015aug_all=0.295128;esp6500siv2_all=0.2935;ExAC_ALL=0.2788;ExAC_AFR=0.3944;ExAC_AMR=0.2184;ExAC_EAS=0.1684;ExAC_FIN=0.3029;ExAC_NFE=0.2793;ExAC_OTH=0.2493;ExAC_SAS=0.2944;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:565,42,0 1 17599525 rs3003433 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=intronic;Gene=NM_016233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8828;1000g2015aug_amr=0.9928;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 17604437 rs72646786 C T 658.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.567;DP=52;ExcessHet=3.0103;FS=5.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.227;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR3972,PADI3;Func=ncRNA_exonic;Gene=NR_039768;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000582732.1,ENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2307\x3bName\x3e"34311:MER45C(DNA)";avsnp150=rs72646786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.1974;1000g2015aug_all=0.159145;esp6500siv2_all=.;ExAC_ALL=0;ExAC_AFR=0;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,26:52:99:687,0,657 1 17609448 rs2293920 G T 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.911;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.968;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI3;Func=exonic;Gene=NM_016233;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI3:NM_016233:exon16:c.G1869T:p.P623P;Gencode=Name\x3eENST00000375460.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.454;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.415;1000g2015aug_all=0.404952;esp6500siv2_all=0.3710;ExAC_ALL=0.4399;ExAC_AFR=0.2268;ExAC_AMR=0.4370;ExAC_EAS=0.6425;ExAC_FIN=0.4563;ExAC_NFE=0.4350;ExAC_OTH=0.4744;ExAC_SAS=0.4813;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,19:41:99:602,0,608 1 17635036 rs2501798 G C 1011.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=4.332;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.9813;1000g2015aug_all=0.927716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1040,81,0 1 17635072 rs2501799 A G 548.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.95;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"34398:MIR3(SINE)";avsnp150=rs2501799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9851;1000g2015aug_afr=0.736;1000g2015aug_amr=0.9798;1000g2015aug_all=0.924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:577,45,0 1 17635141 rs2477132 C A 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"34398:MIR3(SINE)";avsnp150=rs2477132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.705;1000g2015aug_amr=0.9798;1000g2015aug_all=0.919129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 17647039 rs6686220 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4776\x3bName\x3e"34441:MER41B(LTR)";avsnp150=rs6686220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9464;1000g2015aug_sas=0.953;1000g2015aug_eur=0.9105;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.9424;1000g2015aug_all=0.903554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17647045 rs10788663 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375453.5,ENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4776\x3bName\x3e"34441:MER41B(LTR)";avsnp150=rs10788663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.5235;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.549;1000g2015aug_all=0.522963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 17657534 rs11203366 G A 682.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.516;DP=68;ExcessHet=3.0103;FS=0.954;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=2.005;SOR=0.498;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI4:NM_012387:exon2:c.G163A:p.G55S;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5,ENST00000624583.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.5432;1000g2015aug_all=0.524561;esp6500siv2_all=0.5454;ExAC_ALL=0.5612;ExAC_AFR=0.4751;ExAC_AMR=0.5016;ExAC_EAS=0.5836;ExAC_FIN=0.5975;ExAC_NFE=0.5877;ExAC_OTH=0.5639;ExAC_SAS=0.5238;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.900;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=3.29;FATHMM_pred=T;phyloP100way_vertebrate=-1.239;phyloP20way_mammalian=-1.964;SiPhy_29way_logOdds=4.291;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,30:67:99:711,0,1039 1 17657616 rs11203367 T C 845.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.633;DP=86;ExcessHet=3.0103;FS=2.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.34;SOR=0.857;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI4:NM_012387:exon2:c.T245C:p.V82A;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5,ENST00000624583.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.5476;1000g2015aug_all=0.533347;esp6500siv2_all=0.5535;ExAC_ALL=0.5641;ExAC_AFR=0.4996;ExAC_AMR=0.5030;ExAC_EAS=0.5837;ExAC_FIN=0.5976;ExAC_NFE=0.5878;ExAC_OTH=0.5653;ExAC_SAS=0.5279;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.173;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.405;MutationAssessor_pred=N;FATHMM_score=3.24;FATHMM_pred=T;phyloP100way_vertebrate=1.251;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=9.012;gerp++gt2=4.66;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,32:86:99:874,0,1588 1 17660499 rs874881 G C 753.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.103;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.253;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI4:NM_012387:exon3:c.G335C:p.G112A;Gencode=Name\x3eENST00000375448.4,ENST00000375453.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs874881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.5403;1000g2015aug_all=0.521965;esp6500siv2_all=0.5291;ExAC_ALL=0.5462;ExAC_AFR=0.4786;ExAC_AMR=0.4969;ExAC_EAS=0.5812;ExAC_FIN=0.5648;ExAC_NFE=0.5644;ExAC_OTH=0.5463;ExAC_SAS=0.5242;SIFT_score=0.821;SIFT_pred=T;Polyphen2_HDIV_score=0.639;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.19;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.290;MutationTaster_pred=P;MutationAssessor_score=1.715;MutationAssessor_pred=L;FATHMM_score=3.16;FATHMM_pred=T;phyloP100way_vertebrate=3.695;phyloP20way_mammalian=0.948;SiPhy_29way_logOdds=13.600;gerp++gt2=4.74;CADD=1.496;CADD_Phred=13.29;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,28:61:99:782,0,803 1 17660660 rs874882 G A 685.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=43;ExcessHet=3.0103;FS=1.333;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.162;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375453.5,ENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs874882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.5432;1000g2015aug_all=0.52476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,26:43:99:714,0,432 1 17660697 rs1548323 T C 645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.225;DP=36;ExcessHet=3.0103;FS=5.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.227;SOR=1.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375453.5,ENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1548323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.5476;1000g2015aug_all=0.528355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,22:36:99:674,0,340 1 17661128 rs1555658 A C 478.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375453.5,ENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.661;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.5893;1000g2015aug_all=0.595048;esp6500siv2_all=.;ExAC_ALL=0.6245;ExAC_AFR=0.6109;ExAC_AMR=0.6039;ExAC_EAS=0.7188;ExAC_FIN=0.7075;ExAC_NFE=0.6856;ExAC_OTH=0.6453;ExAC_SAS=0.5773;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:507,51,0 1 17661426 rs1613229 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1936\x3bName\x3e"34481:AluJo(SINE)";avsnp150=rs1613229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.0461;1000g2015aug_all=0.076278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17661442 rs1635596 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1936\x3bName\x3e"34481:AluJo(SINE)";avsnp150=rs1635596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.0461;1000g2015aug_all=0.076278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17661600 rs1635595 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1936\x3bName\x3e"34481:AluJo(SINE)";avsnp150=rs1635595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.0476;1000g2015aug_all=0.08127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 17661805 rs1635594 A G 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.55;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e776\x3bName\x3e"34484:MIR(SINE)";avsnp150=rs1635594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.611;1000g2015aug_all=0.629593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 17662541 rs1748034 A C 842.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=6.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.661;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.5951;1000g2015aug_all=0.610423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:871,63,0 1 17662639 rs2240340 T C 1016.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.344;DP=87;ExcessHet=3.0103;FS=3.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.583;SOR=1.114;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.5389;1000g2015aug_all=0.515176;esp6500siv2_all=0.5398;ExAC_ALL=0.5619;ExAC_AFR=0.4598;ExAC_AMR=0.5045;ExAC_EAS=0.5824;ExAC_FIN=0.5988;ExAC_NFE=0.5890;ExAC_OTH=0.5625;ExAC_SAS=0.5308;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,38:86:99:1045,0,1169 1 17662662 rs1748033 T C 3059.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.313;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI4:NM_012387:exon4:c.T349C:p.L117L;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.661;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.585;1000g2015aug_all=0.591853;esp6500siv2_all=0.6362;ExAC_ALL=0.6373;ExAC_AFR=0.5738;ExAC_AMR=0.5278;ExAC_EAS=0.6332;ExAC_FIN=0.6863;ExAC_NFE=0.6778;ExAC_OTH=0.6192;ExAC_SAS=0.5738;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3088,288,0 1 17662751 rs1621005 C G 2666.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1621005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.661;1000g2015aug_afr=0.5847;1000g2015aug_amr=0.5937;1000g2015aug_all=0.604433;esp6500siv2_all=0.6448;ExAC_ALL=0.6407;ExAC_AFR=0.6022;ExAC_AMR=0.5298;ExAC_EAS=0.6341;ExAC_FIN=0.6864;ExAC_NFE=0.6785;ExAC_OTH=0.625;ExAC_SAS=0.5748;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2695,249,0 1 17662804 rs1748032 C T 1844.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=2.348;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.5879;1000g2015aug_all=0.603634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1873,153,0 1 17662907 rs1748031 A T 1040.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.65;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.661;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.5922;1000g2015aug_all=0.608826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1069,84,0 1 17664235 rs1748026 T C 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"34486:AluSc(SINE)";avsnp150=rs1748026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.5908;1000g2015aug_all=0.601837;esp6500siv2_all=.;ExAC_ALL=0.9;ExAC_AFR=0.5;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 17664239 rs1635588 A G 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"34486:AluSc(SINE)";avsnp150=rs1635588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.6581;1000g2015aug_amr=0.6124;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=0.8;ExAC_AFR=0.5;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=1;ExAC_NFE=0.8333;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 17664280 rs1635587 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"34486:AluSc(SINE)";avsnp150=rs1635587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.5908;1000g2015aug_all=0.601637;esp6500siv2_all=.;ExAC_ALL=0.75;ExAC_AFR=0.65;ExAC_AMR=1;ExAC_EAS=0.8333;ExAC_FIN=.;ExAC_NFE=0.7727;ExAC_OTH=.;ExAC_SAS=0.6;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 17664329 rs1748025 C G 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"34486:AluSc(SINE)";avsnp150=rs1748025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.5908;1000g2015aug_all=0.601637;esp6500siv2_all=.;ExAC_ALL=0.7189;ExAC_AFR=0.6532;ExAC_AMR=0.7188;ExAC_EAS=0.8077;ExAC_FIN=0.5;ExAC_NFE=0.7685;ExAC_OTH=0.75;ExAC_SAS=0.5667;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 17664770 rs1635586 A G 1436.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"34487:MIR3(SINE)";avsnp150=rs1635586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5794;1000g2015aug_amr=0.5908;1000g2015aug_all=0.601837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1465,111,0 1 17664813 rs1635585 T G 796.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.66;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"34487:MIR3(SINE)";avsnp150=rs1635585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5794;1000g2015aug_amr=0.5893;1000g2015aug_all=0.601637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:825,60,0 1 17664836 rs1635584 G A 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.51;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"34487:MIR3(SINE)";avsnp150=rs1635584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.5821;1000g2015aug_all=0.585064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 17666095 rs1635578 T C 2155.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26;SOR=4.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1635578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.5893;1000g2015aug_all=0.596246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:2184,162,0 1 17666139 rs1635577 G A 1286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.798;DP=97;ExcessHet=3.0103;FS=0.931;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.655;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1635577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0740815;esp6500siv2_all=0.0970;ExAC_ALL=0.0819;ExAC_AFR=0.1054;ExAC_AMR=0.0260;ExAC_EAS=0.0503;ExAC_FIN=0.1111;ExAC_NFE=0.0982;ExAC_OTH=0.0690;ExAC_SAS=0.0459;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,45:97:99:1315,0,1493 1 17666326 rs1635576 T G 2508.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.165;DP=157;ExcessHet=3.0103;FS=3.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.792;SOR=0.456;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1635576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.143;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0854633;esp6500siv2_all=0.1040;ExAC_ALL=0.1096;ExAC_AFR=0.1586;ExAC_AMR=0.0418;ExAC_EAS=0.0704;ExAC_FIN=0.1458;ExAC_NFE=0.1283;ExAC_OTH=0.0983;ExAC_SAS=0.0525;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,88:156:99:2537,0,1708 1 17666508 rs11203368 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.632;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5795;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.5548;1000g2015aug_all=0.53734;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:179,0,134 1 17668270 rs1748021 A G 1275.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.6138;1000g2015aug_all=0.636781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1304,123,0 1 17668509 rs41265995 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.472;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.339;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PADI4:NM_012387:exon7:c.G724A:p.G242S;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41265995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.003;1000g2015aug_amr=0.013;1000g2015aug_all=0.00898562;esp6500siv2_all=0.0175;ExAC_ALL=0.0170;ExAC_AFR=0.0052;ExAC_AMR=0.0085;ExAC_EAS=0.0001;ExAC_FIN=0.0218;ExAC_NFE=0.0227;ExAC_OTH=0.0155;ExAC_SAS=0.0142;SIFT_score=0.445;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.793;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.49;MutationAssessor_pred=M;FATHMM_score=2.29;FATHMM_pred=T;phyloP100way_vertebrate=1.856;phyloP20way_mammalian=0.949;SiPhy_29way_logOdds=10.454;gerp++gt2=3.95;CADD=2.817;CADD_Phred=21.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:458,0,590 1 17668976 rs1748019 G C 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.528;DP=31;ExcessHet=3.0103;FS=1.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.02;ReadPosRankSum=0.501;SOR=0.768;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1748019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,9:31:99:215,0,621 1 17672730 rs2301888 G A 428.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.181;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.29;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2301888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eRheumatoid_arthritis;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.3963;1000g2015aug_all=0.363019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:457,0,375 1 17674108 rs2240339 C T 106.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.51;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.4107;1000g2015aug_all=0.418131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:134,12,0 1 17674185 rs2240338 C T 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.282;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0.549;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3427;1000g2015aug_amr=0.4107;1000g2015aug_all=0.418331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:57:233,0,57 1 17674366 rs6686575 C T 908.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=71;ExcessHet=3.0103;FS=1.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.468;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0642971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,32:71:99:937,0,1215 1 17674402 rs2240336 C T 3590.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=intronic;Gene=NM_012387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.5113;1000g2015aug_amr=0.4669;1000g2015aug_all=0.499401;esp6500siv2_all=0.4431;ExAC_ALL=0.4542;ExAC_AFR=0.5106;ExAC_AMR=0.4476;ExAC_EAS=0.6360;ExAC_FIN=0.4181;ExAC_NFE=0.4240;ExAC_OTH=0.4549;ExAC_SAS=0.4674;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,109:109:99:3619,326,0 1 17674537 rs2240335 C A 1701.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.827;DP=130;ExcessHet=3.0103;FS=1.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.799;SOR=0.876;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI4;Func=exonic;Gene=NM_012387;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PADI4:NM_012387:exon10:c.C1149A:p.R383R;Gencode=Name\x3eENST00000375448.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eRheumatoid_arthritis;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.4121;1000g2015aug_all=0.421326;esp6500siv2_all=0.3584;ExAC_ALL=0.3895;ExAC_AFR=0.3722;ExAC_AMR=0.4149;ExAC_EAS=0.5867;ExAC_FIN=0.3462;ExAC_NFE=0.3545;ExAC_OTH=0.3794;ExAC_SAS=0.4389;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,60:130:99:1730,0,1888 1 17707739 rs1204898 T C 859.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1204898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.7305;1000g2015aug_all=0.720248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:888,72,0 1 17707798 rs10788668 C T 331.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.729;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.7349;1000g2015aug_all=0.661941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:360,30,0 1 17708349 rs7556072 G A 885.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.3919;1000g2015aug_all=0.324081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:914,69,0 1 17720088 rs6695531 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1359\x3bName\x3e"34624:AluJb(SINE)";avsnp150=rs6695531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.3646;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 17720161 rs6687881 C T 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1359\x3bName\x3e"34624:AluJb(SINE)";avsnp150=rs6687881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.4856;1000g2015aug_amr=0.6254;1000g2015aug_all=0.570887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 17720162 rs6695640 T G 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1359\x3bName\x3e"34624:AluJb(SINE)";avsnp150=rs6695640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.6239;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 17720391 rs6678552 G A 3432.77 PASS AC=2;AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.015;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e251\x3bName\x3e"34625:L2c(LINE)";avsnp150=rs6678552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.3646;1000g2015aug_all=0.318091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,112:112:99:3461,333,0 1 17720439 rs6695849 T C 4180.77 PASS AC=2;AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=0.808;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.4864;1000g2015aug_amr=0.6254;1000g2015aug_all=0.570887;esp6500siv2_all=0.6106;ExAC_ALL=0.6244;ExAC_AFR=0.5254;ExAC_AMR=0.6506;ExAC_EAS=0.5180;ExAC_FIN=0.6043;ExAC_NFE=0.6391;ExAC_OTH=0.6140;ExAC_SAS=0.6691;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,127:127:99:4209,381,0 1 17720615 rs10458537 A C 3686.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10458537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.4864;1000g2015aug_amr=0.6282;1000g2015aug_all=0.572085;esp6500siv2_all=0.6144;ExAC_ALL=0.6260;ExAC_AFR=0.5250;ExAC_AMR=0.6551;ExAC_EAS=0.5169;ExAC_FIN=0.6060;ExAC_NFE=0.6412;ExAC_OTH=0.6196;ExAC_SAS=0.6688;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3715,333,0 1 17721094 rs4920602 G A 291.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.497;1000g2015aug_amr=0.6282;1000g2015aug_all=0.57488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:320,24,0 1 17721388 rs6691485 C T 772.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.6268;1000g2015aug_all=0.571286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:801,60,0 1 17721844 rs2800692 A C 377.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2229\x3bName\x3e"34626:AluSx(SINE)";avsnp150=rs2800692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.6585;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:406,30,0 1 17722363 rs7538876 G A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBasal_cell_carcinoma;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.3674;1000g2015aug_all=0.322484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 17723739 rs12129196 G A 1597.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=1.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.364;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.3674;1000g2015aug_all=0.336462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1626,156,0 1 17723870 rs12129263 G A 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.365;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3689;1000g2015aug_all=0.338059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 17723964 rs12132197 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.365;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3689;1000g2015aug_all=0.338059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17725011 rs1555663 T C 507.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.18;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e255\x3bName\x3e"34631:MIRb(SINE)";avsnp150=rs1555663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.6182;1000g2015aug_all=0.57528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:536,63,0 1 17725358 rs2244936 C G 2570.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=intronic;Gene=NM_207421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.638;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.6755;1000g2015aug_amr=0.6542;1000g2015aug_all=0.6248;esp6500siv2_all=0.6609;ExAC_ALL=0.6384;ExAC_AFR=0.6908;ExAC_AMR=0.6620;ExAC_EAS=0.5278;ExAC_FIN=0.5978;ExAC_NFE=0.6396;ExAC_OTH=0.6320;ExAC_SAS=0.6608;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2599,243,0 1 17728119 rs2526830 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePADI6;Func=UTR3;Gene=NM_207421;GeneDetail=NM_207421:c.*185A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619609.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2526830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.6542;1000g2015aug_all=0.634185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 17729903 rs2526828 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_207421,NM_018715;GeneDetail=dist\x3e1708\x3bdist\x3e3348;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e350\x3bName\x3e"34639:Charlie8(DNA)";avsnp150=rs2526828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.3761;1000g2015aug_all=0.353235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17731679 rs886949461 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_207421,NM_018715;GeneDetail=dist\x3e3484\x3bdist\x3e1572;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs886949461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17736578 rs2762890 A G 1384.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.64;SOR=7.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375433.3,ENST00000375436.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2762890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.647;1000g2015aug_all=0.63778;esp6500siv2_all=0.6592;ExAC_ALL=0.6427;ExAC_AFR=0.7092;ExAC_AMR=0.6617;ExAC_EAS=0.5353;ExAC_FIN=0.6084;ExAC_NFE=0.6341;ExAC_OTH=0.6353;ExAC_SAS=0.6914;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1413,102,0 1 17739586 rs942457 G A 677.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=exonic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RCC2:NM_001136204:exon9:c.C1296T:p.I432I,RCC2:NM_018715:exon10:c.C1296T:p.I432I;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1647;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.3661;1000g2015aug_amr=0.3689;1000g2015aug_all=0.330871;esp6500siv2_all=0.3638;ExAC_ALL=0.3577;ExAC_AFR=0.3934;ExAC_AMR=0.3412;ExAC_EAS=0.1624;ExAC_FIN=0.4101;ExAC_NFE=0.3635;ExAC_OTH=0.34;ExAC_SAS=0.4055;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:706,51,0 1 17739820 rs1075535 T C 2095.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e749\x3bName\x3e"34649:FLAM_A(SINE)";avsnp150=rs1075535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.647;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2124,204,0 1 17748427 rs7535033 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2421\x3bName\x3e"34664:AluSp(SINE)";avsnp150=rs7535033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.6542;1000g2015aug_all=0.642772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17752000 rs1324368 A G 768.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1324368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.3638;1000g2015aug_amr=0.3573;1000g2015aug_all=0.325679;esp6500siv2_all=0.3478;ExAC_ALL=0.3900;ExAC_AFR=0.4028;ExAC_AMR=0.3991;ExAC_EAS=0.2042;ExAC_FIN=0.4433;ExAC_NFE=0.3884;ExAC_OTH=0.3687;ExAC_SAS=0.4335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:797,60,0 1 17752451 rs1324367 C G 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375433.3,ENST00000375436.8;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1324367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.3847;1000g2015aug_all=0.365415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 17752873 rs6702471 A C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.6542;1000g2015aug_all=0.642572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 17759245 rs2489611 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2489611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.6556;1000g2015aug_all=0.648363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17764627 rs113663016 G A 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCC2;Func=intronic;Gene=NM_001136204,NM_018715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375436.8,ENST00000375433.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113663016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.3703;1000g2015aug_all=0.342053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 17819076 rs2353610 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018715,NM_018125;GeneDetail=dist\x3e52826\x3bdist\x3e47255;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1949\x3bName\x3e"34890:MER61-int(LTR)";avsnp150=rs2353610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9856;1000g2015aug_all=0.952077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17826835 rs12091551 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018715,NM_018125;GeneDetail=dist\x3e60585\x3bdist\x3e39496;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2385\x3bName\x3e"34917:AluY(SINE)";avsnp150=rs12091551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.362;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.2133;1000g2015aug_all=0.26897;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17867774 rs6667945 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.493;1000g2015aug_afr=0.438;1000g2015aug_amr=0.5648;1000g2015aug_all=0.547524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 17869550 rs2477738 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 17907505 rs11203423 A G 507.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"35162:(AAAAAG)n(Simple_repeat)";avsnp150=rs11203423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.7781;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:536,42,0 1 17907575 rs11203424 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2342\x3bName\x3e"35163:AluSz(SINE)";avsnp150=rs11203424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.728;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.768;1000g2015aug_all=0.573882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 17914122 rs35497285 G A 840.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.01;DP=84;ExcessHet=3.0103;FS=4.571;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.549;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF10L:NM_001011722:exon2:c.G205A:p.D69N,ARHGEF10L:NM_001319837:exon2:c.G205A:p.D69N,ARHGEF10L:NM_018125:exon3:c.G205A:p.D69N;Gencode=Name\x3eENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35497285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1225;1000g2015aug_all=0.0926518;esp6500siv2_all=0.0620;ExAC_ALL=0.0962;ExAC_AFR=0.0146;ExAC_AMR=0.1228;ExAC_EAS=0.2025;ExAC_FIN=0.0814;ExAC_NFE=0.0952;ExAC_OTH=0.0869;ExAC_SAS=0.0830;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.889;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.3;FATHMM_pred=T;phyloP100way_vertebrate=2.090;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=14.797;gerp++gt2=5.3;CADD=1.677;CADD_Phred=14.28;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,35:84:99:869,0,1407 1 17914846 rs1193343 C T 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.473;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.702;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1193343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.84;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.7954;1000g2015aug_all=0.732228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:159,0,206 1 17929980 rs1193338 C G 736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.362;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.447;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1193338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.323;1000g2015aug_amr=0.5173;1000g2015aug_all=0.461262;esp6500siv2_all=0.4602;ExAC_ALL=0.5129;ExAC_AFR=0.3803;ExAC_AMR=0.5934;ExAC_EAS=0.6378;ExAC_FIN=0.6490;ExAC_NFE=0.5212;ExAC_OTH=0.5239;ExAC_SAS=0.3689;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,31:63:99:765,0,773 1 17939685 rs377181455 C T 1423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.14;DP=147;ExcessHet=3.0103;FS=3.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.138;SOR=0.983;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs377181455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0002;ExAC_ALL=2.519e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.537e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,60:147:99:1452,0,2270 1 17945156 rs75042003 G A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000375408.7,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75042003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.0015;1000g2015aug_amr=.;1000g2015aug_all=0.0107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:55:69,0,55 1 17961345 rs34725104 C T 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.254;DP=81;ExcessHet=3.0103;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.006;SOR=0.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF10L:NM_001319838:exon7:c.C870T:p.I290I,ARHGEF10L:NM_001328124:exon10:c.C1095T:p.I365I,ARHGEF10L:NM_001319837:exon15:c.C1629T:p.I543I,ARHGEF10L:NM_001011722:exon16:c.C1644T:p.I548I,ARHGEF10L:NM_018125:exon18:c.C1761T:p.I587I;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34725104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0965;1000g2015aug_all=0.08127;esp6500siv2_all=0.1399;ExAC_ALL=0.1619;ExAC_AFR=0.0370;ExAC_AMR=0.1034;ExAC_EAS=0.0892;ExAC_FIN=0.2772;ExAC_NFE=0.2056;ExAC_OTH=0.1978;ExAC_SAS=0.0907;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,35:81:99:1067,0,1388 1 17966846 rs61764910 G A 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.229;DP=46;ExcessHet=3.0103;FS=4.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.261;SOR=1.525;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000375408.7,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61764910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.003;1000g2015aug_amr=0.013;1000g2015aug_all=0.0133786;esp6500siv2_all=0.0328;ExAC_ALL=0.0312;ExAC_AFR=0.0084;ExAC_AMR=0.0218;ExAC_EAS=0;ExAC_FIN=0.0655;ExAC_NFE=0.0468;ExAC_OTH=0.0389;ExAC_SAS=0.0162;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,18:45:99:414,0,755 1 17981184 rs35255680 A C 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.567;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.173;SOR=0.525;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF10L:NM_001319838:exon12:c.A1557C:p.A519A,ARHGEF10L:NM_001328124:exon15:c.A1782C:p.A594A,ARHGEF10L:NM_001319837:exon20:c.A2316C:p.A772A,ARHGEF10L:NM_001011722:exon21:c.A2331C:p.A777A,ARHGEF10L:NM_018125:exon23:c.A2448C:p.A816A;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35255680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.163;1000g2015aug_afr=0.298;1000g2015aug_amr=0.17;1000g2015aug_all=0.190296;esp6500siv2_all=0.2020;ExAC_ALL=0.1748;ExAC_AFR=0.2861;ExAC_AMR=0.1663;ExAC_EAS=0.1765;ExAC_FIN=0.1852;ExAC_NFE=0.1694;ExAC_OTH=0.1542;ExAC_SAS=0.1286;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:351,0,518 1 17982559 rs867984 G A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.293;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=1.008;SOR=1.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF10L:NM_001319838:exon13:c.G1776A:p.T592T,ARHGEF10L:NM_001328124:exon16:c.G2001A:p.T667T,ARHGEF10L:NM_001319837:exon21:c.G2535A:p.T845T,ARHGEF10L:NM_001011722:exon22:c.G2550A:p.T850T,ARHGEF10L:NM_018125:exon24:c.G2667A:p.T889T;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs867984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.1063;1000g2015aug_eur=0.16;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.1455;1000g2015aug_all=0.104633;esp6500siv2_all=0.1144;ExAC_ALL=0.1835;ExAC_AFR=0.0622;ExAC_AMR=0.2960;ExAC_EAS=0.1830;ExAC_FIN=0.3714;ExAC_NFE=0.2335;ExAC_OTH=0.1926;ExAC_SAS=0.1308;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:140,0,190 1 17991196 rs11203432 A G 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.51;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.705;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11203432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.1628;1000g2015aug_all=0.20008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:136,0,152 1 18016162 rs74061959 G A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74061959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.092;1000g2015aug_eur=0.173;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.1182;1000g2015aug_all=0.200879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 18016402 rs13376020 A G 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.044;DP=47;ExcessHet=3.0103;FS=6.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.664;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e494\x3bName\x3e"35394:MIRc(SINE)";avsnp150=rs13376020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.1037;1000g2015aug_all=0.124201;esp6500siv2_all=.;ExAC_ALL=0.1266;ExAC_AFR=0.1388;ExAC_AMR=0.1290;ExAC_EAS=0.0960;ExAC_FIN=0.5;ExAC_NFE=0.1521;ExAC_OTH=0.1538;ExAC_SAS=0.1138;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,26:47:99:604,0,566 1 18016441 rs13376112 T C 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.722;DP=43;ExcessHet=3.0103;FS=9.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-1.191;SOR=0.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e494\x3bName\x3e"35394:MIRc(SINE)";avsnp150=rs13376112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.092;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.1196;1000g2015aug_all=0.15595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:441,0,619 1 18016491 rs13375581 G A 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.94;DP=24;ExcessHet=3.0103;FS=2.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.342;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e494\x3bName\x3e"35394:MIRc(SINE)";avsnp150=rs13375581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.1037;1000g2015aug_all=0.116414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:298,0,474 1 18016590 rs13376033 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e494\x3bName\x3e"35394:MIRc(SINE)";avsnp150=rs13376033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.1052;1000g2015aug_all=0.125399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 18017522 rs871087 T C 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.087;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.8948;1000g2015aug_all=0.88119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:183,0,142 1 18017558 rs871088 A G 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.08;DP=24;ExcessHet=3.0103;FS=1.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=2.059;SOR=0.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000375408.7,ENST00000361221.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.8934;1000g2015aug_all=0.880791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:202,0,439 1 18017704 rs871089 C T 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.161;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.677;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.8919;1000g2015aug_all=0.880391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:109,0,376 1 18021406 rs905389 T C 936.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.563;DP=77;ExcessHet=3.0103;FS=3.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.251;SOR=0.825;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e183\x3bName\x3e"35407:L3(LINE)";avsnp150=rs905389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.8746;1000g2015aug_all=0.821685;esp6500siv2_all=.;ExAC_ALL=0.8661;ExAC_AFR=0.7269;ExAC_AMR=0.8904;ExAC_EAS=0.8960;ExAC_FIN=0.8617;ExAC_NFE=0.8494;ExAC_OTH=0.8519;ExAC_SAS=0.8892;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,36:77:99:965,0,936 1 18021858 rs2279817 T C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.992;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0923;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0886581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,319 1 18021867 rs2279816 T C 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=-0.992;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.674;1000g2015aug_amr=0.8746;1000g2015aug_all=0.824281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:99:223,0,108 1 18023261 rs61764942 G A 104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.478;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-2.612;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61764942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.013;1000g2015aug_all=0.0159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:133,0,249 1 18023290 rs2270979 C T 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.892;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.543;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=intronic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.909;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.5885;1000g2015aug_amr=0.8689;1000g2015aug_all=0.785743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:237,0,383 1 18023365 rs2270978 C T 696.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.026;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.202;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N;Gencode=Name\x3eENST00000375415.5,ENST00000361221.7,ENST00000375408.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.909;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.5855;1000g2015aug_amr=0.8674;1000g2015aug_all=0.784744;esp6500siv2_all=0.7648;ExAC_ALL=0.8169;ExAC_AFR=0.6268;ExAC_AMR=0.8969;ExAC_EAS=0.8160;ExAC_FIN=0.7810;ExAC_NFE=0.8202;ExAC_OTH=0.8467;ExAC_SAS=0.8946;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:725,0,785 1 18023509 rs2270977 T C 1339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.257;DP=101;ExcessHet=3.0103;FS=0.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.118;SOR=0.59;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D;Gencode=Name\x3eENST00000375408.7,ENST00000361221.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.8775;1000g2015aug_all=0.834665;esp6500siv2_all=0.8062;ExAC_ALL=0.8351;ExAC_AFR=0.7444;ExAC_AMR=0.9004;ExAC_EAS=0.8931;ExAC_FIN=0.7815;ExAC_NFE=0.8194;ExAC_OTH=0.8527;ExAC_SAS=0.8920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,49:101:99:1368,0,1494 1 18023690 rs2270976 A G 1399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.003;DP=99;ExcessHet=3.0103;FS=2.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-1.638;SOR=0.444;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF10L;Func=exonic;Gene=NM_001011722,NM_001319837,NM_001319838,NM_001328124,NM_018125;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V;Gencode=Name\x3eENST00000361221.7,ENST00000375408.7,ENST00000375415.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.8746;1000g2015aug_all=0.822684;esp6500siv2_all=0.7951;ExAC_ALL=0.8355;ExAC_AFR=0.7006;ExAC_AMR=0.9020;ExAC_EAS=0.8953;ExAC_FIN=0.7883;ExAC_NFE=0.8238;ExAC_OTH=0.8561;ExAC_SAS=0.8947;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.195;MutationAssessor_pred=N;FATHMM_score=0.63;FATHMM_pred=T;phyloP100way_vertebrate=1.226;phyloP20way_mammalian=0.073;SiPhy_29way_logOdds=7.746;gerp++gt2=2.98;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,56:99:99:1428,0,1158 1 18107860 rs6586579 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=intronic;Gene=NM_030812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375406.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2303\x3bName\x3e"35644:AluSx1(SINE)";avsnp150=rs6586579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2045;1000g2015aug_eur=0.3449;1000g2015aug_afr=0.121;1000g2015aug_amr=0.4092;1000g2015aug_all=0.257388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18110701 rs260519 A G 61.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=intronic;Gene=NM_030812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375406.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2261\x3bName\x3e"35650:MSTA(LTR)";avsnp150=rs260519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.4856;1000g2015aug_all=0.499401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:89,9,0 1 18149476 rs56082318 G A 860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.194;DP=77;ExcessHet=3.0103;FS=1.025;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.853;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=intronic;Gene=NM_030812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375406.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56082318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0147764;esp6500siv2_all=0.0328;ExAC_ALL=0.0366;ExAC_AFR=0.0111;ExAC_AMR=0.0166;ExAC_EAS=0;ExAC_FIN=0.0576;ExAC_NFE=0.0509;ExAC_OTH=0.0284;ExAC_SAS=0.0144;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,32:77:99:889,0,1443 1 18149510 rs694214 G T 2038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.5;DP=119;ExcessHet=3.0103;FS=3.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=0.543;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=exonic;Gene=NM_030812;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ACTL8:NM_030812:exon2:c.G7T:p.A3S;Gencode=Name\x3eENST00000375406.1,ENST00000617065.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs694214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.143;1000g2015aug_amr=0.3228;1000g2015aug_all=0.305711;esp6500siv2_all=0.3476;ExAC_ALL=0.3921;ExAC_AFR=0.2029;ExAC_AMR=0.3192;ExAC_EAS=0.4187;ExAC_FIN=0.5284;ExAC_NFE=0.4430;ExAC_OTH=0.4066;ExAC_SAS=0.2816;SIFT_score=0.164;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.426;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.2;MutationAssessor_pred=N;FATHMM_score=-3.46;FATHMM_pred=D;phyloP100way_vertebrate=0.210;phyloP20way_mammalian=-0.465;SiPhy_29way_logOdds=3.746;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,67:118:99:2067,0,1534 1 18149566 rs2296035 C A 2638.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.339;DP=173;ExcessHet=3.0103;FS=6.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.011;SOR=0.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=exonic;Gene=NM_030812;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ACTL8:NM_030812:exon2:c.C63A:p.G21G;Gencode=Name\x3eENST00000617065.1,ENST00000375406.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.5807;1000g2015aug_all=0.482827;esp6500siv2_all=0.4220;ExAC_ALL=0.4969;ExAC_AFR=0.3488;ExAC_AMR=0.6865;ExAC_EAS=0.6575;ExAC_FIN=0.5808;ExAC_NFE=0.4792;ExAC_OTH=0.4912;ExAC_SAS=0.4116;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,89:173:99:2667,0,2435 1 18150016 rs11590019 T C 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.42;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.05;ReadPosRankSum=0.217;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=intronic;Gene=NM_030812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617065.1,ENST00000375406.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1858\x3bName\x3e"35751:AluJb(SINE)";avsnp150=rs11590019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0311502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:365,0,190 1 18151847 rs485291 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTL8;Func=intronic;Gene=NM_030812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375406.1,ENST00000617065.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs485291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.364;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.4697;1000g2015aug_all=0.514177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18248070 rs2225771 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e94513\x3bdist\x3e144081;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2225771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.336;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.1542;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18280034 rs794226 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e126477\x3bdist\x3e112117;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e711\x3bName\x3e"36109:LTR33(LTR)";avsnp150=rs794226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.8098;1000g2015aug_all=0.891773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18306684 rs74058030 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e153127\x3bdist\x3e85467;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e690\x3bName\x3e"36183:MIRb(SINE)";avsnp150=rs74058030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0546;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.159;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.121;1000g2015aug_all=0.141174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18326747 rs1192615 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e173190\x3bdist\x3e65404;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1279\x3bName\x3e"36233:L1MB8(LINE)";avsnp150=rs1192615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.9185;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.9179;1000g2015aug_all=0.886581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18327645 rs12047497 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e174088\x3bdist\x3e64506;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12047497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.2363;1000g2015aug_all=0.211462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18360070 rs7530554 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030812,NR_125946;GeneDetail=dist\x3e206513\x3bdist\x3e32081;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6241;1000g2015aug_amr=0.7622;1000g2015aug_all=0.695687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18434518 rs9660391 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=UTR5;Gene=NM_032880;GeneDetail=NM_032880:c.-105G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9660391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.5719;1000g2015aug_amr=0.5821;1000g2015aug_all=0.626198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18522036 rs12411089 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12411089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.091;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.3314;1000g2015aug_all=0.129393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18536278 rs10752433 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.8156;1000g2015aug_all=0.81889;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 18536355 rs10907295 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.674;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.7118;1000g2015aug_all=0.683906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 18554711 rs3738089 T G 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.1787;1000g2015aug_all=0.152756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 18601891 rs4083983 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4083983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.2176;1000g2015aug_all=0.197484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 18601892 rs4083982 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4083982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.2176;1000g2015aug_all=0.197484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 18614322 rs10796445 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.908;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.8401;1000g2015aug_all=0.79393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18631671 rs4920471 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.6254;1000g2015aug_all=0.569089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18688947 rs871288 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.781;1000g2015aug_all=0.721446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18691614 rs12079178 T C 638.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.391;DP=41;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=0.289;SOR=0.272;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12079178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.147;1000g2015aug_all=0.167332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,23:41:99:667,0,560 1 18691665 rs41300138 G T 1289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.435;DP=74;ExcessHet=3.0103;FS=3.582;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=-0.589;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41300138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.1398;1000g2015aug_all=0.144369;esp6500siv2_all=0.1092;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,44:74:99:1318,0,801 1 18702563 rs10157096 A G 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e421\x3bName\x3e"37107:L2b(LINE)";avsnp150=rs10157096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.7939;1000g2015aug_all=0.738419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 18702988 rs10796450 T C 827.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9957;1000g2015aug_all=0.990815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:856,66,0 1 18703186 rs12127611 G A 88.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-1.44;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.1427;1000g2015aug_all=0.15635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:117,0,233 1 18703208 rs10796451 C G 124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.545;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.7954;1000g2015aug_all=0.739617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:153,0,268 1 18703544 rs10465915 G A 1700.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.234;DP=163;ExcessHet=3.0103;FS=0.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.007;SOR=0.635;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10465915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.2017;1000g2015aug_all=0.198083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,70:163:99:1729,0,2494 1 18703672 rs2271861 G A 307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=27;ExcessHet=3.0103;FS=2.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.633;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=intronic;Gene=NM_032880;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.0885;1000g2015aug_amr=0.1124;1000g2015aug_all=0.13099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:336,0,629 1 18704862 rs1043459 A G 340.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.579;DP=29;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.349;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF21;Func=UTR3;Gene=NM_032880;GeneDetail=NM_032880:c.*42A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251296.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.5634;1000g2015aug_all=0.604233;esp6500siv2_all=0.5181;ExAC_ALL=0.5053;ExAC_AFR=0.7171;ExAC_AMR=0.6224;ExAC_EAS=0.6415;ExAC_FIN=0.4827;ExAC_NFE=0.4201;ExAC_OTH=0.4718;ExAC_SAS=0.5611;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:369,0,354 1 18736991 rs7512838 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032880,NM_152375;GeneDetail=dist\x3e32014\x3bdist\x3e70433;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.6066;1000g2015aug_all=0.469249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18737233 rs12119827 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032880,NM_152375;GeneDetail=dist\x3e32256\x3bdist\x3e70191;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12119827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.2565;1000g2015aug_all=0.15635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18793520 rs3007727 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032880,NM_152375;GeneDetail=dist\x3e88543\x3bdist\x3e13904;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3007727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.8559;1000g2015aug_all=0.807907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 18807339 rs2992756 T C 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.872;DP=23;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.736;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_152375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5908;1000g2015aug_all=0.552117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,6:23:99:181,0,525 1 18807897 rs2992755 C G 1786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.15;DP=186;ExcessHet=3.0103;FS=0.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.412;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=exonic;Gene=NM_152375;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLHDC7A:NM_152375:exon1:c.C422G:p.P141R;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.7147;1000g2015aug_all=0.646965;esp6500siv2_all=0.6213;ExAC_ALL=0.6493;ExAC_AFR=0.5786;ExAC_AMR=0.8126;ExAC_EAS=0.8993;ExAC_FIN=0.6345;ExAC_NFE=0.6326;ExAC_OTH=0.6512;ExAC_SAS=0.5159;SIFT_score=0.482;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.68;FATHMM_pred=T;phyloP100way_vertebrate=0.014;phyloP20way_mammalian=-1.654;SiPhy_29way_logOdds=5.254;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,71:186:99:1815,0,3317 1 18807953 rs11261022 C A 2085.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.009;DP=227;ExcessHet=3.0103;FS=0.5;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-0.094;SOR=0.762;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=exonic;Gene=NM_152375;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLHDC7A:NM_152375:exon1:c.C478A:p.R160S;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11261022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.3401;1000g2015aug_all=0.279553;esp6500siv2_all=0.3178;ExAC_ALL=0.3362;ExAC_AFR=0.2715;ExAC_AMR=0.3790;ExAC_EAS=0.2293;ExAC_FIN=0.3699;ExAC_NFE=0.3689;ExAC_OTH=0.3650;ExAC_SAS=0.2535;SIFT_score=0.724;SIFT_pred=T;Polyphen2_HDIV_score=0.026;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.550;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-0.62;FATHMM_pred=T;phyloP100way_vertebrate=-4.109;phyloP20way_mammalian=-1.000;SiPhy_29way_logOdds=2.446;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:139,88:227:99:2114,0,3767 1 18808292 rs2992753 C A 1386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.857;DP=120;ExcessHet=3.0103;FS=3.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.36;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=exonic;Gene=NM_152375;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLHDC7A:NM_152375:exon1:c.C817A:p.H273N;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.7277;1000g2015aug_all=0.672923;esp6500siv2_all=0.6410;ExAC_ALL=0.6539;ExAC_AFR=0.6651;ExAC_AMR=0.8149;ExAC_EAS=0.8996;ExAC_FIN=0.6345;ExAC_NFE=0.6310;ExAC_OTH=0.6582;ExAC_SAS=0.5053;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.182;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.135;MutationAssessor_pred=N;FATHMM_score=-0.31;FATHMM_pred=T;phyloP100way_vertebrate=3.380;phyloP20way_mammalian=0.125;SiPhy_29way_logOdds=10.544;gerp++gt2=4.92;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,50:118:99:1415,0,1960 1 18808465 rs3007718 T A 994.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.935;DP=81;ExcessHet=3.0103;FS=4.241;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.265;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=exonic;Gene=NM_152375;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLHDC7A:NM_152375:exon1:c.T990A:p.A330A;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3007718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.7277;1000g2015aug_all=0.672724;esp6500siv2_all=0.6403;ExAC_ALL=0.6557;ExAC_AFR=0.6701;ExAC_AMR=0.8170;ExAC_EAS=0.8988;ExAC_FIN=0.6397;ExAC_NFE=0.6324;ExAC_OTH=0.6540;ExAC_SAS=0.5058;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,38:81:99:1023,0,1258 1 18808526 rs2992752 A C 1078.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.934;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=1.177;SOR=0.702;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=exonic;Gene=NM_152375;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLHDC7A:NM_152375:exon1:c.A1051C:p.T351P;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.7277;1000g2015aug_all=0.672724;esp6500siv2_all=0.6410;ExAC_ALL=0.6552;ExAC_AFR=0.6690;ExAC_AMR=0.8169;ExAC_EAS=0.8983;ExAC_FIN=0.6390;ExAC_NFE=0.6318;ExAC_OTH=0.6519;ExAC_SAS=0.5065;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.496;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.005;MutationAssessor_pred=N;FATHMM_score=-0.57;FATHMM_pred=T;phyloP100way_vertebrate=-0.725;phyloP20way_mammalian=-0.975;SiPhy_29way_logOdds=3.866;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,39:95:99:1107,0,1630 1 18809896 rs2992745 A T 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.98;ReadPosRankSum=-0.319;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=UTR3;Gene=NM_152375;GeneDetail=NM_152375:c.*87A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.7061;1000g2015aug_all=0.642772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:99:278,0,145 1 18809916 rs12061708 G A 175.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.11;ReadPosRankSum=-0.712;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=UTR3;Gene=NM_152375;GeneDetail=NM_152375:c.*107G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12061708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.326;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.2507;1000g2015aug_all=0.201677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:99:204,0,129 1 18810344 rs2992740 G T 357.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.643;DP=27;ExcessHet=3.0103;FS=2.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.66;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC7A;Func=UTR3;Gene=NM_152375;GeneDetail=NM_152375:c.*535G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400664.2;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.6844;1000g2015aug_all=0.621206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:386,0,477 1 18888419 rs72648746 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152375,NM_013945;GeneDetail=dist\x3e75939\x3bdist\x3e69081;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72648746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0958466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 18960722 rs4920523 G C 412.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254,NM_002584,NM_013945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375375.7,ENST00000420770.6,ENST00000400661.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.2968;1000g2015aug_all=0.217053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:441,39,0 1 18991004 rs742069 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254,NM_002584,NM_013945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400661.3,ENST00000420770.6,ENST00000375375.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs742069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3234;1000g2015aug_sas=0.408;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.562;1000g2015aug_all=0.552117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 18991005 rs4920339 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254,NM_002584,NM_013945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420770.6,ENST00000375375.7,ENST00000400661.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.7791;1000g2015aug_amr=0.4251;1000g2015aug_all=0.457668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 19018131 rs2076021 A C 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254,NM_002584,NM_013945;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420770.6,ENST00000375375.7,ENST00000400661.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.864;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9121;1000g2015aug_all=0.890375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 19071182 rs3915506 A G 570.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.3;QD=29.56;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420770.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e164\x3bName\x3e"38040:(GATG)n(Simple_repeat)";avsnp150=rs3915506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:41:599,41,0 1 19071183 rs3915505 A G 917.73 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.4;QD=30.85;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAX7;Func=intronic;Gene=NM_001135254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420770.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e164\x3bName\x3e"38040:(GATG)n(Simple_repeat)";avsnp150=rs3915505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.507;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4654;1000g2015aug_all=0.558506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:67:955,67,0 1 19106791 rs4920533 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135254,NM_152232;GeneDetail=dist\x3e31431\x3bdist\x3e59302;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2649\x3bName\x3e"38128:MSTA(LTR)";avsnp150=rs4920533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9424;1000g2015aug_all=0.936901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 19145676 rs6603917 T C 48.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001135254,NM_152232;GeneDetail=dist\x3e70316\x3bdist\x3e20417;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e313\x3bName\x3e"38240:L2b(LINE)";avsnp150=rs6603917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.6628;1000g2015aug_all=0.676518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:76,6,0 1 19166294 rs12033832 G A 7987.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-1.047;DP=251;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.95;ReadPosRankSum=0.88;SOR=0.335;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAS1R2:NM_152232:exon6:c.C2319T:p.S773S;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12033832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.2262;1000g2015aug_all=0.299521;esp6500siv2_all=0.3039;ExAC_ALL=0.3122;ExAC_AFR=0.2384;ExAC_AMR=0.2256;ExAC_EAS=0.4544;ExAC_FIN=0.3086;ExAC_NFE=0.3312;ExAC_OTH=0.3212;ExAC_SAS=0.2694;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,249:250:99:8016,707,0 1 19167371 rs3935570 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3935570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.1744;1000g2015aug_all=0.251198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19168533 rs12082240 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.981;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1562\x3bName\x3e"38300:L1MCa(LINE)";avsnp150=rs12082240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.4121;1000g2015aug_all=0.376198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 19175557 rs4920560 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5704;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.2954;1000g2015aug_all=0.453075;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19175593 rs4920561 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.5;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.2723;1000g2015aug_all=0.399561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 19175635 rs28422791 C T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28422791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.2954;1000g2015aug_all=0.453874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 19176254 rs6675384 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.068;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e768\x3bName\x3e"38318:MIR(SINE)";avsnp150=rs6675384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.3419;1000g2015aug_afr=0.447;1000g2015aug_amr=0.3905;1000g2015aug_all=0.378794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 19181015 rs34447754 G C 1145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.311;DP=82;ExcessHet=3.0103;FS=0.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.394;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TAS1R2:NM_152232:exon3:c.C949G:p.R317G;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34447754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.2602;1000g2015aug_amr=0.2507;1000g2015aug_all=0.238219;esp6500siv2_all=0.2992;ExAC_ALL=0.2886;ExAC_AFR=0.2635;ExAC_AMR=0.2332;ExAC_EAS=0.1111;ExAC_FIN=0.2975;ExAC_NFE=0.3249;ExAC_OTH=0.3149;ExAC_SAS=0.2845;SIFT_score=0.266;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.742;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-1.72;FATHMM_pred=D;phyloP100way_vertebrate=0.039;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=10.687;gerp++gt2=2.84;CADD=0.890;CADD_Phred=10.02;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,40:82:99:1174,0,1255 1 19181082 rs28470550 A C 1446.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.675;DP=106;ExcessHet=3.0103;FS=6.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.202;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAS1R2:NM_152232:exon3:c.T882G:p.T294T;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28470550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.2602;1000g2015aug_amr=0.2536;1000g2015aug_all=0.238818;esp6500siv2_all=0.3003;ExAC_ALL=0.2893;ExAC_AFR=0.2638;ExAC_AMR=0.2351;ExAC_EAS=0.1113;ExAC_FIN=0.2965;ExAC_NFE=0.3256;ExAC_OTH=0.3229;ExAC_SAS=0.2854;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,53:105:99:1475,0,1425 1 19181393 rs35874116 T C 2224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.163;DP=177;ExcessHet=3.0103;FS=6.385;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.012;SOR=0.605;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TAS1R2:NM_152232:exon3:c.A571G:p.I191V;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35874116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.2695;1000g2015aug_all=0.266973;esp6500siv2_all=0.3225;ExAC_ALL=0.3006;ExAC_AFR=0.3304;ExAC_AMR=0.2396;ExAC_EAS=0.1122;ExAC_FIN=0.3019;ExAC_NFE=0.3301;ExAC_OTH=0.3315;ExAC_SAS=0.3026;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.499;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=-1.62;FATHMM_pred=D;phyloP100way_vertebrate=-0.486;phyloP20way_mammalian=-1.455;SiPhy_29way_logOdds=10.706;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,89:177:99:2253,0,2349 1 19184077 rs68081213 A G 1943.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.71;DP=146;ExcessHet=3.0103;FS=2.148;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.451;SOR=0.51;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAS1R2:NM_152232:exon2:c.T231C:p.F77F;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs68081213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.326;1000g2015aug_afr=0.3631;1000g2015aug_amr=0.2853;1000g2015aug_all=0.275759;esp6500siv2_all=0.3335;ExAC_ALL=0.3036;ExAC_AFR=0.3478;ExAC_AMR=0.2442;ExAC_EAS=0.1123;ExAC_FIN=0.2968;ExAC_NFE=0.3324;ExAC_OTH=0.3322;ExAC_SAS=0.3024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,73:145:99:1972,0,2068 1 19184176 rs72953138 G A 622.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.471;DP=46;ExcessHet=3.0103;FS=1.652;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.233;SOR=1.063;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=intronic;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375371.3,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72953138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.1873;1000g2015aug_all=0.188698;esp6500siv2_all=0.2527;ExAC_ALL=0.2086;ExAC_AFR=0.2884;ExAC_AMR=0.1276;ExAC_EAS=0.0654;ExAC_FIN=0.2056;ExAC_NFE=0.2444;ExAC_OTH=0.2235;ExAC_SAS=0.1286;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:651,0,852 1 19186129 rs9701796 G C 5728.77 PASS AC=2;AF=1;AN=2;DP=172;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.5;SOR=0.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAS1R2;Func=exonic;Gene=NM_152232;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TAS1R2:NM_152232:exon1:c.C26G:p.S9C;Gencode=Name\x3eENST00000494072.3,ENST00000375371.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9701796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.8415;1000g2015aug_all=0.797923;esp6500siv2_all=0.7926;ExAC_ALL=0.7804;ExAC_AFR=0.8181;ExAC_AMR=0.8332;ExAC_EAS=0.7517;ExAC_FIN=0.7009;ExAC_NFE=0.7755;ExAC_OTH=0.75;ExAC_SAS=0.7880;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.675;MutationAssessor_pred=N;FATHMM_score=-2.47;FATHMM_pred=D;phyloP100way_vertebrate=-0.020;phyloP20way_mammalian=-0.478;SiPhy_29way_logOdds=8.487;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,171:171:99:5757,513,0 1 19186260 rs9700646 C T 1747.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.619;DP=117;ExcessHet=3.0103;FS=10.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.779;SOR=1.641;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9700646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.503;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.6182;1000g2015aug_all=0.582668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,59:116:99:1776,0,1473 1 19186320 rs9701803 G C 2695.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=2.185;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9701803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7495;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.8156;1000g2015aug_all=0.785743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2724,234,0 1 19186365 rs76018454 G A 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.026;DP=46;ExcessHet=3.0103;FS=1.286;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.144;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76018454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0239;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,21:46:99:603,0,738 1 19186596 rs72651850 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_152232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72651850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.147;1000g2015aug_all=0.0882588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 19199221 rs11740 C T 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.555;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=0.761;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=UTR3;Gene=NM_001161504,NM_001319218,NM_003748;GeneDetail=NM_001161504:c.*118G>A\x3bNM_001319218:c.*118G>A\x3bNM_003748:c.*118G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538839.5,ENST00000290597.9,ENST00000494072.3,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11740;cosmic70=.;CLNALLELEID=279071;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.5519;1000g2015aug_all=0.471446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:432,0,203 1 19199473 rs28700162 T A 2599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.679;DP=176;ExcessHet=3.0103;FS=0.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.359;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290597.9,ENST00000494072.3,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28700162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.5519;1000g2015aug_all=0.471446;esp6500siv2_all=0.3682;ExAC_ALL=0.4647;ExAC_AFR=0.2446;ExAC_AMR=0.5920;ExAC_EAS=0.6784;ExAC_FIN=0.4230;ExAC_NFE=0.4230;ExAC_OTH=0.4532;ExAC_SAS=0.5861;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,103:175:99:2628,0,1734 1 19199487 rs35255325 A G 1707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.859;DP=177;ExcessHet=3.0103;FS=1.183;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.643;SOR=0.759;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290597.9,ENST00000494072.3,ENST00000538309.5,ENST00000538839.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35255325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.092;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.1859;1000g2015aug_all=0.114816;esp6500siv2_all=0.1984;ExAC_ALL=0.1977;ExAC_AFR=0.1014;ExAC_AMR=0.2027;ExAC_EAS=0.0008;ExAC_FIN=0.2342;ExAC_NFE=0.2524;ExAC_OTH=0.2130;ExAC_SAS=0.1211;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:103,73:176:99:1736,0,2753 1 19199723 rs28482942 G A 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.722;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.944;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000538839.5,ENST00000538309.5,ENST00000290597.9,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e183\x3bName\x3e"38368:MIRc(SINE)";avsnp150=rs28482942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.5447;1000g2015aug_all=0.464856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:325,0,271 1 19200895 rs35657817 C T 374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.522;DP=49;ExcessHet=3.0103;FS=1.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-2.552;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000494072.3,ENST00000290597.9,ENST00000538309.5,ENST00000538839.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35657817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.2421;1000g2015aug_all=0.22504;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,18:49:99:403,0,847 1 19200908 rs28529092 G C 891.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.868;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=2.581;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000538309.5,ENST00000538839.5,ENST00000290597.9,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28529092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6637;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.5807;1000g2015aug_all=0.548522;esp6500siv2_all=0.4376;ExAC_ALL=0.4943;ExAC_AFR=0.4278;ExAC_AMR=0.6072;ExAC_EAS=0.6789;ExAC_FIN=0.4378;ExAC_NFE=0.4391;ExAC_OTH=0.4680;ExAC_SAS=0.6074;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,34:54:99:920,0,435 1 19201184 rs6665917 G C 677.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538839.5,ENST00000538309.5,ENST00000494072.3,ENST00000290597.9,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.7666;1000g2015aug_all=0.668331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:706,54,0 1 19201956 rs2230708 A G 3668.77 PASS AC=2;AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=exonic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D;Gencode=Name\x3eENST00000375341.7,ENST00000538309.5,ENST00000538839.5,ENST00000290597.9,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230708;cosmic70=.;CLNALLELEID=279074;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.705;1000g2015aug_amr=0.8112;1000g2015aug_all=0.73722;esp6500siv2_all=0.7022;ExAC_ALL=0.7298;ExAC_AFR=0.6894;ExAC_AMR=0.8260;ExAC_EAS=0.7163;ExAC_FIN=0.6986;ExAC_NFE=0.7175;ExAC_OTH=0.7208;ExAC_SAS=0.7575;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,115:115:99:3697,345,0 1 19202770 rs7550822 T C 2000.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290597.9,ENST00000494072.3,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9732;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.9524;1000g2015aug_all=0.919529;esp6500siv2_all=0.9136;ExAC_ALL=0.9615;ExAC_AFR=0.7741;ExAC_AMR=0.9788;ExAC_EAS=1;ExAC_FIN=0.9725;ExAC_NFE=0.9762;ExAC_OTH=0.9601;ExAC_SAS=0.9833;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2029,180,0 1 19202896 rs2230707 G A 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.476;DP=33;ExcessHet=3.0103;FS=4.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.294;SOR=1.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=exonic;Gene=NM_001161504,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A;Gencode=Name\x3eENST00000538309.5,ENST00000538839.5,ENST00000290597.9,ENST00000494072.3,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230707;cosmic70=.;CLNALLELEID=279271;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.6513;1000g2015aug_all=0.515974;esp6500siv2_all=0.4547;ExAC_ALL=0.5069;ExAC_AFR=0.4468;ExAC_AMR=0.7109;ExAC_EAS=0.6211;ExAC_FIN=0.4430;ExAC_NFE=0.4738;ExAC_OTH=0.5056;ExAC_SAS=0.5007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,10:33:99:272,0,725 1 19202917 rs7550938 T C 1378.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=exonic;Gene=NM_001161504,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S;Gencode=Name\x3eENST00000494072.3,ENST00000290597.9,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550938;cosmic70=.;CLNALLELEID=278122;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.768;1000g2015aug_all=0.660942;esp6500siv2_all=0.6230;ExAC_ALL=0.7024;ExAC_AFR=0.5050;ExAC_AMR=0.8090;ExAC_EAS=0.7275;ExAC_FIN=0.6789;ExAC_NFE=0.7011;ExAC_OTH=0.6974;ExAC_SAS=0.7487;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1407,96,0 1 19202926 rs2230706 T C 1311.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=exonic;Gene=NM_001161504,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A;Gencode=Name\x3eENST00000494072.3,ENST00000290597.9,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230706;cosmic70=.;CLNALLELEID=278118;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.768;1000g2015aug_all=0.660144;esp6500siv2_all=0.6213;ExAC_ALL=0.7061;ExAC_AFR=0.5095;ExAC_AMR=0.8123;ExAC_EAS=0.7310;ExAC_FIN=0.6821;ExAC_NFE=0.7043;ExAC_OTH=0.6975;ExAC_SAS=0.7509;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:90:1340,90,0 1 19203997 rs2230705 C G 3873.77 PASS AC=2;AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=exonic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A;Gencode=Name\x3eENST00000375341.7,ENST00000494072.3,ENST00000290597.9,ENST00000538839.5,ENST00000538309.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230705;cosmic70=.;CLNALLELEID=278123;CLNDN=Hyperprolinemia;CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.733;1000g2015aug_amr=0.7363;1000g2015aug_all=0.641573;esp6500siv2_all=0.7115;ExAC_ALL=0.7072;ExAC_AFR=0.7378;ExAC_AMR=0.7631;ExAC_EAS=0.5004;ExAC_FIN=0.8077;ExAC_NFE=0.7353;ExAC_OTH=0.7132;ExAC_SAS=0.6051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,127:127:99:3902,381,0 1 19204154 rs6426813 G A 937.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.41;QD=28.4;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3,ENST00000290597.9,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9583;1000g2015aug_sas=0.862;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.8588;1000g2015aug_all=0.810903;esp6500siv2_all=0.7263;ExAC_ALL=0.7719;ExAC_AFR=0.7116;ExAC_AMR=0.9083;ExAC_EAS=0.9580;ExAC_FIN=0.6698;ExAC_NFE=0.7175;ExAC_OTH=0.7354;ExAC_SAS=0.8425;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:966,75,0 1 19204173 rs6426814 A G 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.825;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.578;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000538839.5,ENST00000538309.5,ENST00000290597.9,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8621;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7604;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.8689;1000g2015aug_all=0.828874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:361,0,317 1 19205672 rs28497538 T G 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.08;ReadPosRankSum=-0.308;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290597.9,ENST00000494072.3,ENST00000538839.5,ENST00000538309.5,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28497538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3641;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.4977;1000g2015aug_amr=0.4697;1000g2015aug_all=0.435104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:89:89,0,228 1 19206020 rs7365978 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000494072.3,ENST00000290597.9,ENST00000538309.5,ENST00000538839.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7365978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.1643;1000g2015aug_all=0.109026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 19208944 rs28566028 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000538839.5,ENST00000538309.5,ENST00000494072.3,ENST00000290597.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28566028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.9769;1000g2015aug_all=0.960463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 19209543 rs6426611 A G 925.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=1.044;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000290597.9,ENST00000494072.3,ENST00000538309.5,ENST00000538839.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9827;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:954,93,0 1 19215418 rs4912075 T C 58.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000538839.5,ENST00000538309.5,ENST00000494072.3,ENST00000290597.9;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e516\x3bName\x3e"38405:L4_A_Mam(LINE)";avsnp150=rs4912075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.499;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.4697;1000g2015aug_all=0.60024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 1 19215834 rs941495 T C 4718.77 PASS AC=2;AF=1;AN=2;DP=143;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538839.5,ENST00000538309.5,ENST00000290597.9,ENST00000494072.3,ENST00000375341.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs941495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9669;1000g2015aug_all=0.984425;esp6500siv2_all=0.9723;ExAC_ALL=0.9742;ExAC_AFR=0.9929;ExAC_AMR=0.9502;ExAC_EAS=1;ExAC_FIN=0.9808;ExAC_NFE=0.9555;ExAC_OTH=0.9444;ExAC_SAS=0.9888;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,143:143:99:4747,429,0 1 19216428 rs4592275 G A 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.545;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.047;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH4A1;Func=intronic;Gene=NM_001161504,NM_001319218,NM_003748,NM_170726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375341.7,ENST00000290597.9,ENST00000494072.3,ENST00000538839.5,ENST00000538309.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4592275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2219;1000g2015aug_all=0.136981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:207,0,212 1 19243589 rs3748586 A G 3385.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=0.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFFO2;Func=intronic;Gene=NM_001136265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3,ENST00000455833.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.3689;1000g2015aug_all=0.434704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,108:108:99:3414,324,0 1 19246320 rs41273181 G A 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.741;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.003;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFFO2;Func=intronic;Gene=NM_001136265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455833.6,ENST00000494072.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41273181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.205;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,149 1 19247509 rs35477144 G A 1109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.183;DP=70;ExcessHet=3.0103;FS=0.939;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.042;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFFO2;Func=intronic;Gene=NM_001136265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494072.3,ENST00000455833.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35477144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.205;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=0.0635;ExAC_AFR=0.1772;ExAC_AMR=0.0435;ExAC_EAS=0;ExAC_FIN=0.0296;ExAC_NFE=0.0841;ExAC_OTH=0.0504;ExAC_SAS=0.0220;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,40:70:99:1138,0,792 1 19258539 rs28687442 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFFO2;Func=intronic;Gene=NM_001136265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455833.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e249\x3bName\x3e"38508:MIRb(SINE)";avsnp150=rs28687442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.6182;1000g2015aug_all=0.542931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19282981 rs1886768 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001136265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455833.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.9942;1000g2015aug_all=0.994409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19359756 rs912843 C T 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001136265,NM_020765;GeneDetail=dist\x3e76930\x3bdist\x3e41244;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.8602;1000g2015aug_all=0.840256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 19359796 rs912842 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001136265,NM_020765;GeneDetail=dist\x3e76970\x3bdist\x3e41204;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.261;1000g2015aug_amr=0.1499;1000g2015aug_all=0.121406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 19361029 rs7522910 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001136265,NM_020765;GeneDetail=dist\x3e78203\x3bdist\x3e39971;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.826;1000g2015aug_amr=0.7305;1000g2015aug_all=0.679712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 19384838 rs6696450 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001136265,NM_020765;GeneDetail=dist\x3e102012\x3bdist\x3e16162;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 19384846 rs35237031 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001136265,NM_020765;GeneDetail=dist\x3e102020\x3bdist\x3e16154;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35237031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7629;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.6988;1000g2015aug_all=0.685903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 19401405 rs2281748 G A 4548.77 PASS AC=2;AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375224.1,ENST00000375225.7,ENST00000606379.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.362;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.177;1000g2015aug_amr=0.4597;1000g2015aug_all=0.387181;esp6500siv2_all=0.3354;ExAC_ALL=0.4093;ExAC_AFR=0.2180;ExAC_AMR=0.5068;ExAC_EAS=0.5918;ExAC_FIN=0.4184;ExAC_NFE=0.4090;ExAC_OTH=0.3666;ExAC_SAS=0.3638;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,142:142:99:4577,425,0 1 19404176 rs2181597 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375224.1,ENST00000375225.7,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2197\x3bName\x3e"38903:AluSq2(SINE)";avsnp150=rs2181597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.362;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.4568;1000g2015aug_all=0.393171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 19411129 rs1043905 A G 4337.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.901;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon102:c.T14877C:p.H4959H;Gencode=Name\x3eENST00000375224.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7349;1000g2015aug_all=0.71885;esp6500siv2_all=0.6715;ExAC_ALL=0.6447;ExAC_AFR=0.8051;ExAC_AMR=0.8129;ExAC_EAS=0.8122;ExAC_FIN=0.5252;ExAC_NFE=0.6036;ExAC_OTH=0.5773;ExAC_SAS=0.5557;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:4366,438,0 1 19411410 rs2313506 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375224.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2313506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0457268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 19411444 rs2313507 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2313507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.6844;1000g2015aug_all=0.600839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 19412464 rs2274009 C T 934.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.6844;1000g2015aug_all=0.601038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:963,72,0 1 19413261 rs12584 T A 3398.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UBR4:NM_020765:exon100:c.A14599T:p.M4867L;Gencode=Name\x3eENST00000375224.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.6844;1000g2015aug_all=0.601438;esp6500siv2_all=0.5599;ExAC_ALL=0.5830;ExAC_AFR=0.5470;ExAC_AMR=0.7738;ExAC_EAS=0.7618;ExAC_FIN=0.5058;ExAC_NFE=0.5674;ExAC_OTH=0.5365;ExAC_SAS=0.4748;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.751;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=1.64;FATHMM_pred=T;phyloP100way_vertebrate=2.611;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=5.268;gerp++gt2=.;CADD=2.334;CADD_Phred=18.39;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,102:102:99:3427,306,0 1 19413420 rs2274008 T G 1809.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7334;1000g2015aug_all=0.718251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1838,150,0 1 19415304 rs1043899 C T 819.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon98:c.G14379A:p.K4793K;Gencode=Name\x3eENST00000375224.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.6787;1000g2015aug_all=0.591853;esp6500siv2_all=0.5526;ExAC_ALL=0.5807;ExAC_AFR=0.5249;ExAC_AMR=0.7729;ExAC_EAS=0.7607;ExAC_FIN=0.5059;ExAC_NFE=0.5671;ExAC_OTH=0.5341;ExAC_SAS=0.4744;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:848,66,0 1 19420392 rs1106839 G A 1459.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1106839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.7334;1000g2015aug_all=0.714058;esp6500siv2_all=0.6665;ExAC_ALL=0.6442;ExAC_AFR=0.7919;ExAC_AMR=0.8123;ExAC_EAS=0.8073;ExAC_FIN=0.5239;ExAC_NFE=0.5997;ExAC_OTH=0.5700;ExAC_SAS=0.5487;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1488,120,0 1 19421856 rs2274006 A G 259.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375224.1,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.7334;1000g2015aug_all=0.714257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:288,24,0 1 19423565 rs2296105 T C 301.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.23;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.553;1000g2015aug_amr=0.6844;1000g2015aug_all=0.604433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 1 19426199 rs2236377 G A 570.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375224.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.7334;1000g2015aug_all=0.714257;esp6500siv2_all=0.6664;ExAC_ALL=0.6436;ExAC_AFR=0.7930;ExAC_AMR=0.8122;ExAC_EAS=0.8112;ExAC_FIN=0.5261;ExAC_NFE=0.6035;ExAC_OTH=0.5713;ExAC_SAS=0.5559;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:599,48,0 1 19431861 rs942180 T C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 19433449 rs6426677 A G 717.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon82:c.T12117C:p.V4039V;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7334;1000g2015aug_all=0.719249;esp6500siv2_all=0.6718;ExAC_ALL=0.6461;ExAC_AFR=0.8057;ExAC_AMR=0.8138;ExAC_EAS=0.8107;ExAC_FIN=0.5322;ExAC_NFE=0.6048;ExAC_OTH=0.5766;ExAC_SAS=0.5574;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:746,66,0 1 19440107 rs9661719 A G 1607.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=2.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375218.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.7334;1000g2015aug_all=0.712859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1636,132,0 1 19440914 rs61766783 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375218.3,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0591054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19441212 rs2274003 A G 874.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=6.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375218.3,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.7133;1000g2015aug_all=0.664137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:903,66,0 1 19441594 rs56030256 C G 1641.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7,ENST00000375218.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56030256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0457268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1670,143,0 1 19444552 rs17392444 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375218.3,ENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17392444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0403;1000g2015aug_all=0.033746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19446388 rs2296104 T C 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7363;1000g2015aug_all=0.717252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 19447498 rs6426678 T C 446.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.7133;1000g2015aug_all=0.664337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:475,39,0 1 19447819 rs35802543 T C 3013.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon68:c.A10005G:p.A3335A;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35802543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0459265;esp6500siv2_all=0.0945;ExAC_ALL=0.0830;ExAC_AFR=0.0590;ExAC_AMR=0.0432;ExAC_EAS=0.0002;ExAC_FIN=0.0857;ExAC_NFE=0.1136;ExAC_OTH=0.0740;ExAC_SAS=0.0450;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:3042,211,0 1 19447843 rs1044010 C G 3192.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.45;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon68:c.G9981C:p.L3327L;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1044010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.6844;1000g2015aug_all=0.600439;esp6500siv2_all=0.5601;ExAC_ALL=0.5831;ExAC_AFR=0.5492;ExAC_AMR=0.7736;ExAC_EAS=0.7611;ExAC_FIN=0.5056;ExAC_NFE=0.5682;ExAC_OTH=0.5366;ExAC_SAS=0.4715;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:3221,231,0 1 19448326 rs6681662 C T 1083.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e396\x3bName\x3e"38957:L2a(LINE)";avsnp150=rs6681662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.6974;1000g2015aug_all=0.632987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1112,102,0 1 19448608 rs7535738 C G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.58;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.7133;1000g2015aug_all=0.664337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 19450938 rs6681943 G A 1742.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=3.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.0461;1000g2015aug_all=0.047524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1771,153,0 1 19464773 rs2274001 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.7248;1000g2015aug_all=0.694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 19470749 rs2296109 G C 727.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.719;1000g2015aug_all=0.694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:756,69,0 1 19474975 rs2296108 T G 1669.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=1.298;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.536;1000g2015aug_all=0.516773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1698,144,0 1 19480829 rs6691238 C A 56.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.536;1000g2015aug_all=0.516374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:84,9,0 1 19481184 rs12131098 C T 613.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12131098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0461262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:642,51,0 1 19483209 rs10799710 A G 1184.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.5605;1000g2015aug_all=0.565695;esp6500siv2_all=0.4684;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1213,107,0 1 19483593 rs10753518 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.5504;1000g2015aug_all=0.558107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 19486839 rs946419 T C 877.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.732;1000g2015aug_all=0.717053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:906,75,0 1 19487656 rs3748759 T C 4651.77 PASS AC=2;AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.5548;1000g2015aug_all=0.5623;esp6500siv2_all=0.4636;ExAC_ALL=0.5091;ExAC_AFR=0.5399;ExAC_AMR=0.6144;ExAC_EAS=0.8054;ExAC_FIN=0.4218;ExAC_NFE=0.4576;ExAC_OTH=0.4299;ExAC_SAS=0.5045;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,144:144:99:4680,432,0 1 19488493 rs3748758 A C 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.536;1000g2015aug_all=0.517372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 19488839 rs1999967 C A 330.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.7305;1000g2015aug_all=0.71226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:359,27,0 1 19489275 rs10799715 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.447;1000g2015aug_amr=0.536;1000g2015aug_all=0.517173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 19491514 rs12133185 G C 1281.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0469249;esp6500siv2_all=0.0948;ExAC_ALL=0.0859;ExAC_AFR=0.0632;ExAC_AMR=0.0462;ExAC_EAS=0.0003;ExAC_FIN=0.0871;ExAC_NFE=0.1174;ExAC_OTH=0.0742;ExAC_SAS=0.0452;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1310,99,0 1 19491857 rs3748757 T C 2268.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.146;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7363;1000g2015aug_all=0.718051;esp6500siv2_all=0.6718;ExAC_ALL=0.6450;ExAC_AFR=0.8049;ExAC_AMR=0.8128;ExAC_EAS=0.8122;ExAC_FIN=0.5248;ExAC_NFE=0.6047;ExAC_OTH=0.5760;ExAC_SAS=0.5541;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2297,201,0 1 19499120 rs10917061 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.732;1000g2015aug_all=0.71246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19499835 rs951908 G C 1460.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs951908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.732;1000g2015aug_all=0.71226;esp6500siv2_all=0.6660;ExAC_ALL=0.6419;ExAC_AFR=0.7924;ExAC_AMR=0.8115;ExAC_EAS=0.8111;ExAC_FIN=0.5245;ExAC_NFE=0.6019;ExAC_OTH=0.5752;ExAC_SAS=0.5517;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1489,117,0 1 19499873 rs952789 G T 1763.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs952789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0403;1000g2015aug_all=0.033746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1792,141,0 1 19499954 rs952790 G A 2478.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.24;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=exonic;Gene=NM_020765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBR4:NM_020765:exon23:c.C3144T:p.S1048S;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs952790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0403;1000g2015aug_all=0.033746;esp6500siv2_all=0.0806;ExAC_ALL=0.0779;ExAC_AFR=0.0179;ExAC_AMR=0.0400;ExAC_EAS=0.0002;ExAC_FIN=0.0842;ExAC_NFE=0.1116;ExAC_OTH=0.0675;ExAC_SAS=0.0444;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2507,225,0 1 19500729 rs6694521 G A 1320.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=1.923;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.732;1000g2015aug_all=0.71226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1349,117,0 1 19504306 rs12138892 C G 1598.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.48;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0469249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1627,156,0 1 19510394 rs3762396 A G 2404.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.7305;1000g2015aug_all=0.716853;esp6500siv2_all=0.6717;ExAC_ALL=0.6444;ExAC_AFR=0.8051;ExAC_AMR=0.8127;ExAC_EAS=0.8129;ExAC_FIN=0.5251;ExAC_NFE=0.6040;ExAC_OTH=0.5751;ExAC_SAS=0.5519;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2433,216,0 1 19518659 rs11588032 G A 2090.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.411;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.447;1000g2015aug_amr=0.4942;1000g2015aug_all=0.487819;esp6500siv2_all=0.4096;ExAC_ALL=0.4434;ExAC_AFR=0.4485;ExAC_AMR=0.5476;ExAC_EAS=0.6739;ExAC_FIN=0.3877;ExAC_NFE=0.4091;ExAC_OTH=0.3853;ExAC_SAS=0.4089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2119,182,0 1 19519782 rs10799734 C T 852.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.41;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.447;1000g2015aug_amr=0.4942;1000g2015aug_all=0.488019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:881,69,0 1 19525585 rs841374 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e593\x3bName\x3e"39068:MER102b(DNA)";avsnp150=rs841374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.6902;1000g2015aug_all=0.688099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 19526363 rs12122656 A G 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0587061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 19526975 rs12143407 G A 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBR4;Func=intronic;Gene=NM_020765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375254.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e802\x3bName\x3e"39072:AluJb(SINE)";avsnp150=rs12143407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0593051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 19549759 rs710870 G A 1156.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=4.548;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114,NR_135115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375208.7,ENST00000437898.1,ENST00000477853.5,ENST00000375199.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e508\x3bName\x3e"39104:MIR(SINE)";avsnp150=rs710870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.3804;1000g2015aug_all=0.502796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1185,90,0 1 19554099 rs7515397 T G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114,NR_135115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1686\x3bName\x3e"39115:AluSx1(SINE)";avsnp150=rs7515397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.6816;1000g2015aug_all=0.672724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 19557281 rs12128595 G C 962.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=2.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000437898.1,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:991,81,0 1 19557713 rs2275403 G C 937.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.6571;1000g2015aug_all=0.667931;esp6500siv2_all=0.6258;ExAC_ALL=0.5809;ExAC_AFR=0.8186;ExAC_AMR=0.7602;ExAC_EAS=0.7257;ExAC_FIN=0.3759;ExAC_NFE=0.5260;ExAC_OTH=0.4940;ExAC_SAS=0.5194;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:966,81,0 1 19558018 rs55748756 C T 2597.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.32;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55748756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2626,248,0 1 19558096 rs60543370 A T 1113.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000437898.1,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60543370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1142,90,0 1 19558241 rs57273965 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477853.5,ENST00000375199.7,ENST00000375208.7,ENST00000437898.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1910\x3bName\x3e"39124:AluJb(SINE)";avsnp150=rs57273965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.1037;1000g2015aug_all=0.194289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19559729 rs16862625 A G 1088.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000437898.1,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16862625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.1037;1000g2015aug_all=0.194289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1117,102,0 1 19559842 rs16862629 T G 356.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16862629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:385,30,0 1 19563900 rs16862632 T G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.82;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375208.7,ENST00000437898.1,ENST00000477853.5,ENST00000375199.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16862632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 19564846 rs10489533 T A 300.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000437898.1,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0477236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:329,27,0 1 19565175 rs709681 T C 343.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.05;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477853.5,ENST00000375199.7,ENST00000375208.7,ENST00000437898.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.1037;1000g2015aug_all=0.194489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:372,27,0 1 19565338 rs709682 C T 1346.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=exonic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EMC1:NM_001271429:exon9:c.G974A:p.S325N,EMC1:NM_001271427:exon10:c.G1037A:p.S346N,EMC1:NM_001271428:exon10:c.G1040A:p.S347N,EMC1:NM_015047:exon10:c.G1040A:p.S347N;Gencode=Name\x3eENST00000375208.7,ENST00000437898.1,ENST00000477853.5,ENST00000375199.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.098;1000g2015aug_all=0.170128;esp6500siv2_all=0.1919;ExAC_ALL=0.1422;ExAC_AFR=0.2926;ExAC_AMR=0.1072;ExAC_EAS=0.1275;ExAC_FIN=0.0788;ExAC_NFE=0.1357;ExAC_OTH=0.1060;ExAC_SAS=0.1336;SIFT_score=0.279;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.664;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.9;FATHMM_pred=T;phyloP100way_vertebrate=-0.730;phyloP20way_mammalian=-0.607;SiPhy_29way_logOdds=6.783;gerp++gt2=.;CADD=1.829;CADD_Phred=15.16;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1375,93,0 1 19565344 rs709683 C G 1321.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=exonic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EMC1:NM_001271429:exon9:c.G968C:p.S323T,EMC1:NM_001271427:exon10:c.G1031C:p.S344T,EMC1:NM_001271428:exon10:c.G1034C:p.S345T,EMC1:NM_015047:exon10:c.G1034C:p.S345T;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.5101;1000g2015aug_all=0.572284;esp6500siv2_all=0.4696;ExAC_ALL=0.4418;ExAC_AFR=0.6799;ExAC_AMR=0.5660;ExAC_EAS=0.7224;ExAC_FIN=0.2572;ExAC_NFE=0.3614;ExAC_OTH=0.3557;ExAC_SAS=0.4621;SIFT_score=0.633;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.282;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.385;MutationAssessor_pred=L;FATHMM_score=1.98;FATHMM_pred=T;phyloP100way_vertebrate=2.853;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=16.283;gerp++gt2=5.22;CADD=2.010;CADD_Phred=16.28;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1350,90,0 1 19565998 rs16862639 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477853.5,ENST00000375199.7,ENST00000375208.7,ENST00000437898.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16862639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0778;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 19566627 rs710869 A G 1135.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=ncRNA_intronic;Gene=NR_135114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437898.1,ENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs710869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.1037;1000g2015aug_all=0.194289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1164,96,0 1 19568722 rs710866 G C 4305.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=2.152;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=intronic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs710866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.513;1000g2015aug_all=0.574081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:4334,367,0 1 19568972 rs710865 A G 4799.77 PASS AC=2;AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=1.908;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=intronic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs710865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBrain_structure;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.5115;1000g2015aug_all=0.581869;esp6500siv2_all=0.4822;ExAC_ALL=0.4483;ExAC_AFR=0.7097;ExAC_AMR=0.5704;ExAC_EAS=0.7223;ExAC_FIN=0.2573;ExAC_NFE=0.3667;ExAC_OTH=0.3565;ExAC_SAS=0.4663;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,144:144:99:4828,432,0 1 19569783 rs12139436 C A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=intronic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375208.7,ENST00000375199.7,ENST00000477853.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.0793;1000g2015aug_all=0.108626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 19570426 rs2294944 C G 2343.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=1.117;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEMC1;Func=intronic;Gene=NM_001271427,NM_001271428,NM_001271429,NM_015047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375199.7,ENST00000477853.5,ENST00000375208.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.0807;1000g2015aug_all=0.119609;esp6500siv2_all=0.1437;ExAC_ALL=0.1077;ExAC_AFR=0.1975;ExAC_AMR=0.0977;ExAC_EAS=0.0853;ExAC_FIN=0.0645;ExAC_NFE=0.1110;ExAC_OTH=0.0874;ExAC_SAS=0.0751;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2372,213,0 1 19578576 rs17551584 G A 261.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.02;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17551584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0734824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 1 19581226 rs735026 G A 1635.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs735026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.183;1000g2015aug_all=0.251797;esp6500siv2_all=0.3225;ExAC_ALL=0.2268;ExAC_AFR=0.4664;ExAC_AMR=0.1599;ExAC_EAS=0.1180;ExAC_FIN=0.1535;ExAC_NFE=0.2374;ExAC_OTH=0.1858;ExAC_SAS=0.1689;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1664,150,0 1 19581467 rs1774081 C T 1573.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1774081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.183;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1602,108,0 1 19582563 rs1557133 G A 2182.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.545;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1557133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.8549;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.8833;1000g2015aug_all=0.898962;esp6500siv2_all=0.8653;ExAC_ALL=0.8660;ExAC_AFR=0.9128;ExAC_AMR=0.8930;ExAC_EAS=0.9170;ExAC_FIN=0.8752;ExAC_NFE=0.8462;ExAC_OTH=0.8263;ExAC_SAS=0.8692;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2211,210,0 1 19582750 rs61764888 C G 220.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2046\x3bName\x3e"39174:AluSx1(SINE)";avsnp150=rs61764888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0734824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:249,18,0 1 19583400 rs1774075 A G 1789.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=0.96;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1774075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.9683;1000g2015aug_all=0.986022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1818,171,0 1 19583684 rs1774074 C T 2002.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1774074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.183;1000g2015aug_all=0.251398;esp6500siv2_all=0.3225;ExAC_ALL=0.2287;ExAC_AFR=0.4663;ExAC_AMR=0.1603;ExAC_EAS=0.1184;ExAC_FIN=0.1537;ExAC_NFE=0.2384;ExAC_OTH=0.1900;ExAC_SAS=0.1735;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2031,201,0 1 19583725 rs1738017 T C 2045.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1738017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.183;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2074,171,0 1 19584004 rs1042380 G A 2370.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=exonic;Gene=NM_016183;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MRTO4:NM_016183:exon5:c.G330A:p.E110E;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1042380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.183;1000g2015aug_all=0.251398;esp6500siv2_all=0.3225;ExAC_ALL=0.2271;ExAC_AFR=0.4665;ExAC_AMR=0.1602;ExAC_EAS=0.1182;ExAC_FIN=0.1536;ExAC_NFE=0.2377;ExAC_OTH=0.1865;ExAC_SAS=0.1689;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2399,216,0 1 19584578 rs12121472 T C 2001.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=intronic;Gene=NM_016183;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e228\x3bName\x3e"39176:MIRb(SINE)";avsnp150=rs12121472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0734824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2030,174,0 1 19585207 rs2294939 G A 4014.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=exonic;Gene=NM_016183;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MRTO4:NM_016183:exon8:c.G603A:p.K201K;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1431;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.087;1000g2015aug_amr=0.0908;1000g2015aug_all=0.109225;esp6500siv2_all=0.1302;ExAC_ALL=0.1293;ExAC_AFR=0.0986;ExAC_AMR=0.1055;ExAC_EAS=0.1178;ExAC_FIN=0.0900;ExAC_NFE=0.1393;ExAC_OTH=0.1026;ExAC_SAS=0.1483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:4043,363,0 1 19585545 rs761305 G A 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRTO4;Func=UTR3;Gene=NM_016183;GeneDetail=NM_016183:c.*221G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330263.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2118\x3bName\x3e"39178:AluSc8(SINE)";avsnp150=rs761305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.8549;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.8833;1000g2015aug_all=0.915935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 19588997 rs61764914 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016183,NM_001348421;GeneDetail=dist\x3e2375\x3bdist\x3e3479;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61764914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0317492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 19596664 rs2860679 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7L;Func=intronic;Gene=NM_001348421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420396.3,ENST00000429712.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19278608;Repeat=.;avsnp150=rs2860679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.062;1000g2015aug_all=0.0688898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 19596841 rs7536049 G A 1749.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.18;QD=25.52;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7L;Func=intronic;Gene=NM_001348421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420396.3,ENST00000429712.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19278608;Repeat=.;avsnp150=rs7536049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7966;1000g2015aug_sas=0.8538;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.8689;1000g2015aug_all=0.86881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1778,138,0 1 19609013 rs59622577 C T 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.283;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.586;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=Score\x3e2482\x3bName\x3e"39244:MSTB(LTR)";avsnp150=rs59622577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0115;1000g2015aug_all=0.024361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:345,0,478 1 19609254 rs1738025 T C 3344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.269;DP=254;ExcessHet=3.0103;FS=0.458;MLEAC=1;MLEAF=0.5;MQ=59.47;MQRankSum=-3.767;QD=13.17;ReadPosRankSum=2.024;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=exonic;Gene=NM_012067;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKR7A3:NM_012067:exon7:c.A967G:p.T323A;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs1738025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.8674;1000g2015aug_all=0.83147;esp6500siv2_all=0.7973;ExAC_ALL=0.8271;ExAC_AFR=0.7477;ExAC_AMR=0.8380;ExAC_EAS=0.8158;ExAC_FIN=0.8580;ExAC_NFE=0.8246;ExAC_OTH=0.8194;ExAC_SAS=0.8732;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.73;FATHMM_pred=T;phyloP100way_vertebrate=3.922;phyloP20way_mammalian=-0.080;SiPhy_29way_logOdds=8.893;gerp++gt2=3.59;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:120,134:254:99:3373,0,3088 1 19609522 rs7512902 G A 219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.313;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.75;MQRankSum=0.887;QD=10.99;ReadPosRankSum=0;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs7512902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.8357;1000g2015aug_all=0.746406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:248,0,331 1 19611241 rs1738023 T C 1165.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.057;DP=73;ExcessHet=3.0103;FS=0.91;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=1.033;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=exonic;Gene=NM_012067;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKR7A3:NM_012067:exon5:c.A643G:p.N215D;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs1738023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.8646;1000g2015aug_all=0.807708;esp6500siv2_all=0.7737;ExAC_ALL=0.8247;ExAC_AFR=0.6594;ExAC_AMR=0.8398;ExAC_EAS=0.8202;ExAC_FIN=0.8638;ExAC_NFE=0.8320;ExAC_OTH=0.8194;ExAC_SAS=0.8752;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.89;FATHMM_pred=T;phyloP100way_vertebrate=0.857;phyloP20way_mammalian=-0.153;SiPhy_29way_logOdds=8.979;gerp++gt2=3.02;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,42:73:99:1194,0,809 1 19611410 rs1968022 C G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs1968022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 19611487 rs59348345 A T 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.65;MQRankSum=-0.674;QD=12.9;ReadPosRankSum=1.935;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs59348345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.0288;1000g2015aug_all=0.081869;esp6500siv2_all=0.1303;ExAC_ALL=0.0763;ExAC_AFR=0.2142;ExAC_AMR=0.0292;ExAC_EAS=0;ExAC_FIN=0.0558;ExAC_NFE=0.0836;ExAC_OTH=0.0498;ExAC_SAS=0.0424;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:183,0,215 1 19611909 rs1774077 A G 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.88;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=Score\x3e269\x3bName\x3e"39249:L2c(LINE)";avsnp150=rs1774077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 19611978 rs61764920 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=53.24;MQRankSum=0.967;QD=14.59;ReadPosRankSum=0.431;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=Score\x3e217\x3bName\x3e"39250:L2a(LINE)";avsnp150=rs61764920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:28:72,0,28 1 19612249 rs9660883 G A 1072.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.19;QD=33.16;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=intronic;Gene=NM_012067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs9660883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9251;1000g2015aug_all=0.939696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1101,84,0 1 19612477 rs2231198 C T 2250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.7;DP=164;ExcessHet=3.0103;FS=1.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.511;SOR=0.6;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A3;Func=exonic;Gene=NM_012067;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKR7A3:NM_012067:exon3:c.G412A:p.V138M;Gencode=Name\x3eENST00000361640.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=Score\x3e0.905539\x3bName\x3echr1:19265951;Repeat=.;avsnp150=rs2231198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.5432;1000g2015aug_all=0.463259;esp6500siv2_all=0.3634;ExAC_ALL=0.4239;ExAC_AFR=0.3666;ExAC_AMR=0.6550;ExAC_EAS=0.6814;ExAC_FIN=0.4300;ExAC_NFE=0.3678;ExAC_OTH=0.3925;ExAC_SAS=0.3886;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.375;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.057;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_pred=P;MutationAssessor_score=1.125;MutationAssessor_pred=L;FATHMM_score=1.91;FATHMM_pred=T;phyloP100way_vertebrate=2.512;phyloP20way_mammalian=0.716;SiPhy_29way_logOdds=5.909;gerp++gt2=3.04;CADD=2.371;CADD_Phred=18.63;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,87:164:99:2279,0,2038 1 19632332 rs3828102 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.351;1000g2015aug_amr=0.5865;1000g2015aug_all=0.46246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 19632757 rs2231204 C T 1118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.833;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.12;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2231204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0273562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,38:67:99:1147,0,776 1 19638202 rs143099556 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143099556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19638257 rs2231195 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2231195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 19638284 rs116824369 T C 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116824369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0107827;esp6500siv2_all=0.0353;ExAC_ALL=0.0312;ExAC_AFR=0.0090;ExAC_AMR=0.0109;ExAC_EAS=0;ExAC_FIN=0.0286;ExAC_NFE=0.0486;ExAC_OTH=0.0149;ExAC_SAS=0.0088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 19638309 rs2227295 A G 184.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=intronic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2227295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.6124;1000g2015aug_all=0.710064;esp6500siv2_all=0.7650;ExAC_ALL=0.7234;ExAC_AFR=0.8311;ExAC_AMR=0.7129;ExAC_EAS=0.5584;ExAC_FIN=0.6398;ExAC_NFE=0.7435;ExAC_OTH=0.7050;ExAC_SAS=0.7104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:213,18,0 1 19638557 rs148182255 G T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.101;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR7A2;Func=exonic;Gene=NM_001320979,NM_003689;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKR7A2:NM_001320979:exon1:c.C62A:p.P21Q,AKR7A2:NM_003689:exon1:c.C62A:p.P21Q;Gencode=Name\x3eENST00000235835.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148182255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0107827;esp6500siv2_all=0.0282;ExAC_ALL=0.0419;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.1146;ExAC_OTH=0.1429;ExAC_SAS=0.0284;SIFT_score=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.089;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.259;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.46;FATHMM_pred=T;phyloP100way_vertebrate=-1.608;phyloP20way_mammalian=-0.020;SiPhy_29way_logOdds=9.085;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:131,0,272 1 19644218 rs12140547 G A 519.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.332;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.758;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=exonic;Gene=NM_001040125,NM_017765;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PQLC2:NM_001040125:exon2:c.G47A:p.S16N,PQLC2:NM_017765:exon3:c.G47A:p.S16N;Gencode=Name\x3eENST00000375153.7,ENST00000400548.6,ENST00000375155.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0455272;esp6500siv2_all=0.0757;ExAC_ALL=0.0414;ExAC_AFR=0.1227;ExAC_AMR=0.0164;ExAC_EAS=0;ExAC_FIN=0.0268;ExAC_NFE=0.0483;ExAC_OTH=0.0221;ExAC_SAS=0.0089;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-2.555;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_pred=T;phyloP100way_vertebrate=7.113;phyloP20way_mammalian=0.118;SiPhy_29way_logOdds=10.333;gerp++gt2=5.39;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:548,0,584 1 19651385 rs214314 G T 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.875;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.168;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375153.7,ENST00000375155.7,ENST00000400548.6;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs214314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.4856;1000g2015aug_all=0.547724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:225,0,134 1 19652132 rs214315 T G 537.73 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375153.7,ENST00000400548.6,ENST00000375155.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs214315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.7795;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:575,51,0 1 19652872 rs77915465 G A 793.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.237;DP=45;ExcessHet=3.0103;FS=2.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.185;SOR=1.229;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=exonic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PQLC2:NM_001040125:exon5:c.G516A:p.S172S,PQLC2:NM_001040126:exon5:c.G321A:p.S107S,PQLC2:NM_001287531:exon5:c.G183A:p.S61S,PQLC2:NM_017765:exon6:c.G516A:p.S172S;Gencode=Name\x3eENST00000375155.7,ENST00000400548.6,ENST00000375153.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77915465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0265575;esp6500siv2_all=0.0493;ExAC_ALL=0.0325;ExAC_AFR=0.0647;ExAC_AMR=0.0133;ExAC_EAS=0.0001;ExAC_FIN=0.0277;ExAC_NFE=0.0421;ExAC_OTH=0.0246;ExAC_SAS=0.0073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,27:45:99:822,0,514 1 19653148 rs61764959 G A 1363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.125;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.676;SOR=0.725;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400548.6,ENST00000375155.7,ENST00000375153.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61764959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0249601;esp6500siv2_all=0.0485;ExAC_ALL=0.0308;ExAC_AFR=0.0566;ExAC_AMR=0.0131;ExAC_EAS=0;ExAC_FIN=0.0253;ExAC_NFE=0.0405;ExAC_OTH=0.0222;ExAC_SAS=0.0070;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,50:99:99:1392,0,1369 1 19653476 rs61766660 G A 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.545;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.117;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400548.6,ENST00000375155.7,ENST00000375153.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0253594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:187,0,212 1 19654112 rs7543391 G A 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.498;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.716;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400548.6,ENST00000375155.7,ENST00000375153.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e322\x3bName\x3e"39357:L2b(LINE)";avsnp150=rs7543391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.062;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0259585;esp6500siv2_all=.;ExAC_ALL=0.0227;ExAC_AFR=0.0635;ExAC_AMR=0.0208;ExAC_EAS=0;ExAC_FIN=0.0294;ExAC_NFE=0.0383;ExAC_OTH=0.0260;ExAC_SAS=0.0091;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,26:51:99:668,0,672 1 19654141 rs7552150 C T 797.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.405;DP=67;ExcessHet=3.0103;FS=0.943;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.334;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePQLC2;Func=intronic;Gene=NM_001040125,NM_001040126,NM_001287531,NM_017765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400548.6,ENST00000375155.7,ENST00000375153.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e322\x3bName\x3e"39357:L2b(LINE)";avsnp150=rs7552150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0255591;esp6500siv2_all=.;ExAC_ALL=0.0228;ExAC_AFR=0.0642;ExAC_AMR=0.0207;ExAC_EAS=0;ExAC_FIN=0.0263;ExAC_NFE=0.0384;ExAC_OTH=0.0260;ExAC_SAS=0.0091;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,35:66:99:826,0,810 1 19669117 rs214326 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375142.5,ENST00000433834.5,ENST00000375144.5,ENST00000264202.7,ENST00000264203.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs214326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.59;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.4813;1000g2015aug_all=0.542532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 19669510 rs61766681 G A 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.25;DP=27;ExcessHet=3.0103;FS=2.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.408;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264202.7,ENST00000264203.7,ENST00000375142.5,ENST00000433834.5,ENST00000375144.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61766681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0267572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:376,0,553 1 19671494 rs114197650 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264202.7,ENST00000264203.7,ENST00000375142.5,ENST00000375144.5,ENST00000433834.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"39394:(CTGGAG)n(Simple_repeat)";avsnp150=rs114197650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0229;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0173;1000g2015aug_all=0.00758786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 19675257 rs77620107 G T 1486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.909;DP=118;ExcessHet=3.0103;FS=2.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.175;SOR=0.764;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264202.7,ENST00000264203.7,ENST00000375144.5,ENST00000433834.5,ENST00000375142.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77620107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0265575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,65:116:99:1515,0,1893 1 19682908 rs10917418 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.006;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264203.7,ENST00000264202.7,ENST00000375142.5,ENST00000433834.5,ENST00000375144.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.3729;1000g2015aug_amr=0.0504;1000g2015aug_all=0.111821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 19683301 rs169957 G T 3708.77 PASS AC=2;AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=2.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433834.5,ENST00000375144.5,ENST00000375142.5,ENST00000264202.7,ENST00000264203.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs169957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.5274;1000g2015aug_all=0.477835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3737,332,0 1 19683540 rs214347 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264203.7,ENST00000264202.7,ENST00000375142.5,ENST00000433834.5,ENST00000375144.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2203\x3bName\x3e"39417:AluSx1(SINE)";avsnp150=rs214347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.4625;1000g2015aug_all=0.329872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19684103 rs41264087 T C 833.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.034;DP=59;ExcessHet=3.0103;FS=2.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.448;SOR=1.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433834.5,ENST00000375144.5,ENST00000375142.5,ENST00000264203.7,ENST00000264202.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0233626;esp6500siv2_all=0.0442;ExAC_ALL=0.0292;ExAC_AFR=0.0512;ExAC_AMR=0.0116;ExAC_EAS=0;ExAC_FIN=0.0246;ExAC_NFE=0.0395;ExAC_OTH=0.0203;ExAC_SAS=0.0040;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,31:59:99:862,0,625 1 19686937 rs214302 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264203.7,ENST00000264202.7,ENST00000375142.5,ENST00000433834.5,ENST00000375144.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs214302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.5259;1000g2015aug_all=0.477636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 19711939 rs10753561 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264203.7,ENST00000264202.7,ENST00000433834.5,ENST00000375144.5,ENST00000375142.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.2168;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.2968;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 19717215 rs4912083 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433834.5,ENST00000375144.5,ENST00000375142.5,ENST00000264202.7,ENST00000264203.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.498;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.6167;1000g2015aug_all=0.603634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 19740069 rs6676572 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375142.5,ENST00000433834.5,ENST00000375144.5,ENST00000264203.7,ENST00000264202.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1884\x3bName\x3e"39513:AluJo(SINE)";avsnp150=rs6676572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6513;1000g2015aug_all=0.717851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 19762466 rs4912094 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264202.7,ENST00000264203.7,ENST00000375142.5,ENST00000433834.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e610\x3bName\x3e"39555:MIR(SINE)";avsnp150=rs4912094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.2594;1000g2015aug_all=0.198083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 19775113 rs4912096 T C 977.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375142.5,ENST00000433834.5,ENST00000264203.7,ENST00000264202.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.281;1000g2015aug_all=0.235623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1006,87,0 1 19775246 rs10442634 C T 2368.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.073;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=intronic;Gene=NM_001206540,NM_001206541,NM_001282162,NM_001313932,NM_004930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433834.5,ENST00000375142.5,ENST00000264202.7,ENST00000264203.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10442634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.1755;1000g2015aug_amr=0.2767;1000g2015aug_all=0.227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2397,215,0 1 19775492 rs10442635 A G 2003.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZB;Func=UTR5;Gene=NM_001206541;GeneDetail=NM_001206541:c.-84T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375142.5,ENST00000433834.5,ENST00000264203.7,ENST00000264202.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10442635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.281;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2032,183,0 1 19828867 rs7556377 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004930,NR_135054;GeneDetail=dist\x3e16732\x3bdist\x3e89429;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2117\x3bName\x3e"39721:AluSz6(SINE)";avsnp150=rs7556377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9986;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 19828869 rs10917464 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004930,NR_135054;GeneDetail=dist\x3e16734\x3bdist\x3e89427;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2117\x3bName\x3e"39721:AluSz6(SINE)";avsnp150=rs10917464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.337;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.3372;1000g2015aug_all=0.360423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 19860577 rs148260631 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004930,NR_135054;GeneDetail=dist\x3e48442\x3bdist\x3e57719;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e381\x3bName\x3e"39830:L2c(LINE)";avsnp150=rs148260631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00139776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 19873134 rs12032852 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.189;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.328;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004930,NR_135054;GeneDetail=dist\x3e60999\x3bdist\x3e45162;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e38123\x3bName\x3e"39866:HERVK9-int(LTR)";avsnp150=rs12032852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.6081;1000g2015aug_all=0.470447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:78:104,0,78 1 19923313 rs4912130 T A 1363.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_135054;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416470.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.2666;1000g2015aug_all=0.194688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1392,126,0 1 19969611 rs2854102 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMINOS1-NBL1;Func=intronic;Gene=NM_001204088,NM_001204089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602662.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e204\x3bName\x3e"40152:L2c(LINE)";avsnp150=rs2854102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9751;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9885;1000g2015aug_all=0.992412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 19981791 rs2294630 A G 1146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.077;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.62;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBL1,MINOS1-NBL1;Func=intronic;Gene=NM_001204084,NM_001204085,NM_001204086,NM_001204088,NM_001204089,NM_001278164,NM_001278165,NM_001278166,NM_005380,NM_182744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375136.7,ENST00000615215.4,ENST00000602662.1,ENST00000548815.2,ENST00000622566.4,ENST00000289749.6,ENST00000618761.4,ENST00000621723.4;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1677;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.508;1000g2015aug_afr=0.6997;1000g2015aug_amr=0.4827;1000g2015aug_all=0.455871;esp6500siv2_all=0.5413;ExAC_ALL=0.4761;ExAC_AFR=0.6606;ExAC_AMR=0.5822;ExAC_EAS=0.1614;ExAC_FIN=0.5729;ExAC_NFE=0.4792;ExAC_OTH=0.5100;ExAC_SAS=0.3968;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,41:83:99:1175,0,1061 1 19992066 rs10917509 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHTR6;Func=UTR5;Gene=NM_000871;GeneDetail=NM_000871:c.-181T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289753.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1796;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.5202;1000g2015aug_all=0.438299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 20017596 rs4912017 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2474\x3bName\x3e"40278:AluY(SINE)";avsnp150=rs4912017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.67;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.5865;1000g2015aug_all=0.569489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 20017721 rs4912018 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.544;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.174;1000g2015aug_amr=0.5216;1000g2015aug_all=0.408546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 20020993 rs4370779 A G 7307.77 PASS AC=2;AF=1;AN=2;DP=164;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=exonic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4370779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.525;1000g2015aug_amr=0.6787;1000g2015aug_all=0.660144;esp6500siv2_all=0.7275;ExAC_ALL=0.7615;ExAC_AFR=0.5714;ExAC_AMR=0.6241;ExAC_EAS=0.6000;ExAC_FIN=0.8413;ExAC_NFE=0.8203;ExAC_OTH=0.7987;ExAC_SAS=0.7906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,164:164:99:7336,497,0 1 20020994 rs4515815 C T 7307.77 PASS AC=2;AF=1;AN=2;DP=165;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=exonic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4515815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.589;1000g2015aug_eur=0.669;1000g2015aug_afr=0.1853;1000g2015aug_amr=0.5389;1000g2015aug_all=0.430112;esp6500siv2_all=0.5127;ExAC_ALL=0.5734;ExAC_AFR=0.2555;ExAC_AMR=0.4925;ExAC_EAS=0.2687;ExAC_FIN=0.7067;ExAC_NFE=0.6521;ExAC_OTH=0.6308;ExAC_SAS=0.6150;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.848;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.055;MutationAssessor_pred=L;FATHMM_score=0.84;FATHMM_pred=T;phyloP100way_vertebrate=-0.026;phyloP20way_mammalian=-0.346;SiPhy_29way_logOdds=11.943;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,165:165:99:7336,497,0 1 20026901 rs4912146 C G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.9193;1000g2015aug_all=0.827676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 20026962 rs4912147 C T 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3857;1000g2015aug_afr=0.205;1000g2015aug_amr=0.389;1000g2015aug_all=0.305911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 20066133 rs1266444 T C 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.55;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1266444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.4481;1000g2015aug_all=0.490815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 20066485 rs6426824 G A 3471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.126;DP=185;ExcessHet=3.0103;FS=11.899;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=-0.188;SOR=1.449;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.3154;1000g2015aug_amr=0.1369;1000g2015aug_all=0.152756;esp6500siv2_all=0.1875;ExAC_ALL=0.1338;ExAC_AFR=0.3028;ExAC_AMR=0.1134;ExAC_EAS=0.0608;ExAC_FIN=0.1309;ExAC_NFE=0.1341;ExAC_OTH=0.1215;ExAC_SAS=0.0737;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,92:185:99:3500,0,5214 1 20066490 rs6426825 T C 3355.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.645;DP=178;ExcessHet=3.0103;FS=14.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=0.004;SOR=1.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.1369;1000g2015aug_all=0.153754;esp6500siv2_all=0.1875;ExAC_ALL=0.1345;ExAC_AFR=0.3032;ExAC_AMR=0.1137;ExAC_EAS=0.0606;ExAC_FIN=0.1334;ExAC_NFE=0.1346;ExAC_OTH=0.1221;ExAC_SAS=0.0747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,87:178:99:3384,0,5205 1 20067186 rs12065466 T C 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.985;DP=60;ExcessHet=3.0103;FS=2.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.553;SOR=0.357;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12065466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.1369;1000g2015aug_all=0.153554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,25:60:99:626,0,1009 1 20096866 rs61768327 G T 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.269;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e210\x3bName\x3e"40509:MIRb(SINE)";avsnp150=rs61768327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,301 1 20097285 rs41311997 T G 518.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.478;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.554;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41311997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:547,0,465 1 20097370 rs2235650 T C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=2.017;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.2156;1000g2015aug_amr=0.2795;1000g2015aug_all=0.289736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,145 1 20097608 rs61768329 C A 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.021;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1055\x3bName\x3e"40511:MIR(SINE)";avsnp150=rs61768329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0521;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0557109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,288 1 20097611 rs1266436 G A 661.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1055\x3bName\x3e"40511:MIR(SINE)";avsnp150=rs1266436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.9509;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.853;1000g2015aug_all=0.93151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:690,48,0 1 20097822 rs11551819 G A 1308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.117;DP=97;ExcessHet=3.0103;FS=0.761;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.108;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=exonic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMCO4:NM_001349112:exon4:c.C333T:p.D111D,TMCO4:NM_001349113:exon5:c.C333T:p.D111D,TMCO4:NM_001349115:exon5:c.C333T:p.D111D,TMCO4:NM_181719:exon5:c.C333T:p.D111D,TMCO4:NM_001349114:exon6:c.C333T:p.D111D;Gencode=Name\x3eENST00000375127.5,ENST00000294543.10;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11551819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0878594;esp6500siv2_all=0.1272;ExAC_ALL=0.1120;ExAC_AFR=0.1151;ExAC_AMR=0.0497;ExAC_EAS=0.0010;ExAC_FIN=0.1724;ExAC_NFE=0.1273;ExAC_OTH=0.1280;ExAC_SAS=0.1252;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,50:97:99:1337,0,1330 1 20097941 rs10917536 G T 836.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.101;DP=64;ExcessHet=3.0103;FS=11.652;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.007;SOR=0.13;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=exonic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMCO4:NM_001349112:exon4:c.C214A:p.Q72K,TMCO4:NM_001349113:exon5:c.C214A:p.Q72K,TMCO4:NM_001349115:exon5:c.C214A:p.Q72K,TMCO4:NM_181719:exon5:c.C214A:p.Q72K,TMCO4:NM_001349114:exon6:c.C214A:p.Q72K;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.3833;1000g2015aug_all=0.378994;esp6500siv2_all=0.3665;ExAC_ALL=0.3541;ExAC_AFR=0.4064;ExAC_AMR=0.3491;ExAC_EAS=0.4144;ExAC_FIN=0.3904;ExAC_NFE=0.3447;ExAC_OTH=0.3622;ExAC_SAS=0.3162;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-2.56;MutationAssessor_pred=N;FATHMM_score=1.76;FATHMM_pred=T;phyloP100way_vertebrate=1.493;phyloP20way_mammalian=-0.235;SiPhy_29way_logOdds=6.573;gerp++gt2=4.25;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,34:64:99:865,0,844 1 20098066 rs41310424 A G 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.464;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.91;ReadPosRankSum=-0.191;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41310424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:363,0,260 1 20098079 rs41312010 C A 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.91;ReadPosRankSum=-0.063;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41312010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0876597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:363,0,260 1 20098142 rs61768331 A G 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61768331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:184,0,62 1 20099109 rs1266434 T G 129.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.98;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO4;Func=intronic;Gene=NM_001349112,NM_001349113,NM_001349114,NM_001349115,NM_181719;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294543.10,ENST00000375127.5;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1266434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.4755;1000g2015aug_all=0.626198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:158,15,0 1 20140340 rs3767216 A G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.036;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_019062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.329;1000g2015aug_afr=0.5749;1000g2015aug_amr=0.3487;1000g2015aug_all=0.462859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 20141528 rs1541185 C T 1020.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.771;DP=78;ExcessHet=3.0103;FS=6.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.19;SOR=1.438;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF186;Func=exonic;Gene=NM_019062;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF186:NM_019062:exon1:c.G67A:p.A23T;Gencode=Name\x3eENST00000375121.3,ENST00000454736.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1541185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.3761;1000g2015aug_all=0.288538;esp6500siv2_all=0.2364;ExAC_ALL=0.2846;ExAC_AFR=0.2287;ExAC_AMR=0.4817;ExAC_EAS=0.3340;ExAC_FIN=0.3100;ExAC_NFE=0.2481;ExAC_OTH=0.2796;ExAC_SAS=0.2895;SIFT_score=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.341;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_pred=B;LRT_score=0.747;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.625;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.204;phyloP20way_mammalian=-1.607;SiPhy_29way_logOdds=9.037;gerp++gt2=.;CADD=1.893;CADD_Phred=15.54;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,38:78:99:1049,0,1052 1 20141920 rs12064796 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_019062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454736.1;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12064796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.513;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 20216860 rs10799593 G A 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.432;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-1.944;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOTUD3;Func=intronic;Gene=NM_015207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375120.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.497;1000g2015aug_afr=0.6241;1000g2015aug_amr=0.5375;1000g2015aug_all=0.454073;esp6500siv2_all=0.5480;ExAC_ALL=0.4904;ExAC_AFR=0.6190;ExAC_AMR=0.5521;ExAC_EAS=0.2666;ExAC_FIN=0.5435;ExAC_NFE=0.5191;ExAC_OTH=0.4777;ExAC_SAS=0.3504;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:471,0,417 1 20305065 rs10732279 C T 2235.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.355;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2A;Func=intronic;Gene=NM_000300,NM_001161727,NM_001161728,NM_001161729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400520.7,ENST00000375111.7;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10732279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9425;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.795;1000g2015aug_amr=0.7954;1000g2015aug_all=0.834265;esp6500siv2_all=0.7799;ExAC_ALL=0.7801;ExAC_AFR=0.8062;ExAC_AMR=0.8097;ExAC_EAS=0.9460;ExAC_FIN=0.7368;ExAC_NFE=0.7380;ExAC_OTH=0.7985;ExAC_SAS=0.8417;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2264,180,0 1 20338413 rs1605319 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161728,NM_000929;GeneDetail=dist\x3e31481\x3bdist\x3e58288;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2251\x3bName\x3e"41133:MLT1A1(LTR)";avsnp150=rs1605319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.726;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.6614;1000g2015aug_all=0.675519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 20338416 rs1605318 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161728,NM_000929;GeneDetail=dist\x3e31484\x3bdist\x3e58285;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2251\x3bName\x3e"41133:MLT1A1(LTR)";avsnp150=rs1605318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.726;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.6614;1000g2015aug_all=0.675519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 20395401 rs11573185 C A 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.028;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.938;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161728,NM_000929;GeneDetail=dist\x3e88469\x3bdist\x3e1300;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11573185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.5432;1000g2015aug_all=0.39976;esp6500siv2_all=.;ExAC_ALL=0.5107;ExAC_AFR=0.2354;ExAC_AMR=0.6593;ExAC_EAS=0.3737;ExAC_FIN=0.75;ExAC_NFE=0.5285;ExAC_OTH=0.5227;ExAC_SAS=0.5219;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,26:57:99:744,0,919 1 20395868 rs528614 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e811\x3bName\x3e"41250:L1MC4(LINE)";avsnp150=rs528614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9097;1000g2015aug_sas=0.865;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.8934;1000g2015aug_all=0.853035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 20411234 rs2020886 T A 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.552;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G5;Func=intronic;Gene=NM_000929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375108.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.338;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.2608;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:253,0,199 1 20411332 rs2020887 C T 1086.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.691;DP=64;ExcessHet=3.0103;FS=5.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.204;SOR=1.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G5;Func=exonic;Gene=NM_000929;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLA2G5:NM_000929:exon2:c.C9T:p.G3G;Gencode=Name\x3eENST00000375108.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.338;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.2608;1000g2015aug_all=0.251398;esp6500siv2_all=0.2743;ExAC_ALL=0.3298;ExAC_AFR=0.1250;ExAC_AMR=0.2351;ExAC_EAS=0.3062;ExAC_FIN=0.4152;ExAC_NFE=0.3696;ExAC_OTH=0.3689;ExAC_SAS=0.3399;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,37:64:99:1115,0,663 1 20416878 rs565503 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G5;Func=intronic;Gene=NM_000929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375108.3;cytoBand=1p36.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs565503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.8674;1000g2015aug_all=0.858027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 20442054 rs584367 T C 896.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.381;DP=73;ExcessHet=3.0103;FS=0.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.591;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2D;Func=exonic;Gene=NM_012400;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLA2G2D:NM_012400:exon3:c.A238G:p.S80G;Gencode=Name\x3eENST00000617227.1,ENST00000375105.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs584367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7569;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.966;1000g2015aug_amr=0.6974;1000g2015aug_all=0.769369;esp6500siv2_all=0.6909;ExAC_ALL=0.6607;ExAC_AFR=0.9161;ExAC_AMR=0.6828;ExAC_EAS=0.7723;ExAC_FIN=0.5920;ExAC_NFE=0.5855;ExAC_OTH=0.6498;ExAC_SAS=0.7579;SIFT_score=0.864;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.017;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.105;MutationAssessor_pred=N;FATHMM_score=1.68;FATHMM_pred=T;phyloP100way_vertebrate=-1.315;phyloP20way_mammalian=-2.592;SiPhy_29way_logOdds=1.181;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,38:73:99:925,0,922 1 20442691 rs3736979 C T 1078.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.581;DP=96;ExcessHet=3.0103;FS=0.835;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.136;SOR=0.564;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2D;Func=intronic;Gene=NM_001271814,NM_012400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375105.7,ENST00000617227.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e216\x3bName\x3e"41381:L2c(LINE)";avsnp150=rs3736979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.5219;1000g2015aug_amr=0.3818;1000g2015aug_all=0.451078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,44:96:99:1107,0,1397 1 20452205 rs624726 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012400,NM_022819;GeneDetail=dist\x3e6146\x3bdist\x3e13618;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1782\x3bName\x3e"41411:AluJo(SINE)";avsnp150=rs624726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.175;1000g2015aug_afr=0.5303;1000g2015aug_amr=0.1888;1000g2015aug_all=0.249201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 20466830 rs12065685 T C 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.855;DP=78;ExcessHet=3.0103;FS=1.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.235;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2F;Func=intronic;Gene=NM_022819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375102.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12065685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.1755;1000g2015aug_amr=0.1499;1000g2015aug_all=0.138179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,40:78:99:1062,0,929 1 20474907 rs3738126 T C 768.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.748;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.243;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2F;Func=UTR3;Gene=NM_022819;GeneDetail=NM_022819:c.*13T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375102.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.0879;1000g2015aug_all=0.148962;esp6500siv2_all=0.1153;ExAC_ALL=0.1324;ExAC_AFR=0.1345;ExAC_AMR=0.0629;ExAC_EAS=0.1454;ExAC_FIN=0.1636;ExAC_NFE=0.1169;ExAC_OTH=0.1442;ExAC_SAS=0.2221;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,25:54:99:797,0,911 1 20490518 rs6426616 T C 5467.77 PASS AC=2;AF=1;AN=2;DP=172;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=exonic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLA2G2C:NM_001316722:exon4:c.A410G:p.Q137R;Gencode=Name\x3eENST00000247992.5,ENST00000429261.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.4942;1000g2015aug_all=0.659944;esp6500siv2_all=0.6364;ExAC_ALL=0.6079;ExAC_AFR=0.7306;ExAC_AMR=0.4106;ExAC_EAS=0.7346;ExAC_FIN=0.5347;ExAC_NFE=0.5909;ExAC_OTH=0.5833;ExAC_SAS=0.7010;SIFT_score=0.911;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.051;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.76;MutationAssessor_pred=N;FATHMM_score=1.73;FATHMM_pred=T;phyloP100way_vertebrate=0.116;phyloP20way_mammalian=-0.384;SiPhy_29way_logOdds=5.563;gerp++gt2=3.36;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,172:172:99:5496,516,0 1 20492852 rs72663004 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=intronic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429261.2,ENST00000247992.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72663004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0547125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 20499168 rs2301475 T C 953.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.148;DP=57;ExcessHet=3.0103;FS=4.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.539;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=intronic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429261.2,ENST00000247992.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e241\x3bName\x3e"41518:L1MD(LINE)";avsnp150=rs2301475;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.2723;1000g2015aug_all=0.422125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,32:57:99:982,0,668 1 20501362 rs6692902 C T 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.516;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=intronic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247992.5,ENST00000429261.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6692902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.1182;1000g2015aug_all=0.239816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:256,0,245 1 20501442 rs10916718 T C 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.135;DP=34;ExcessHet=3.0103;FS=3.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=0.424;SOR=1.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=intronic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247992.5,ENST00000429261.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5486;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.3588;1000g2015aug_all=0.401558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,11:34:99:277,0,612 1 20501582 rs12139100 G A 786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.102;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.214;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=exonic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=stopgain;AAChange=PLA2G2C:NM_001316722:exon2:c.C97T:p.R33X;Gencode=Name\x3eENST00000247992.5,ENST00000429261.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.121;1000g2015aug_all=0.240216;esp6500siv2_all=0.1997;ExAC_ALL=0.2095;ExAC_AFR=0.2665;ExAC_AMR=0.0965;ExAC_EAS=0.1585;ExAC_FIN=0.2021;ExAC_NFE=0.1887;ExAC_OTH=0.2132;ExAC_SAS=0.3684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.051;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.266;phyloP20way_mammalian=-0.745;SiPhy_29way_logOdds=4.751;gerp++gt2=.;CADD=5.691;CADD_Phred=26.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,30:56:99:815,0,685 1 20503710 rs10753483 G A 696.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G2C;Func=intronic;Gene=NM_001316722;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429261.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.41;1000g2015aug_amr=0.598;1000g2015aug_all=0.594649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:725,57,0 1 20637374 rs10916761 T C 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.572;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.329;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVWA5B1;Func=intronic;Gene=NM_001039500;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375079.6,ENST00000289815.12,ENST00000444923.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e452\x3bName\x3e"41816:MIRc(SINE)";avsnp150=rs10916761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.638;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.6873;1000g2015aug_all=0.783946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:184,0,131 1 20643944 rs4654851 G C 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.397;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.555;SOR=0.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVWA5B1;Func=intronic;Gene=NM_001039500;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375079.6,ENST00000444923.1,ENST00000289815.12;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3631;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.255;1000g2015aug_all=0.276957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:681,0,711 1 20648379 rs6426633 A G 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVWA5B1;Func=intronic;Gene=NM_001039500;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375079.6,ENST00000444923.1,ENST00000289815.12;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e897\x3bName\x3e"41842:L2c(LINE)";avsnp150=rs6426633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9097;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.6888;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 20671797 rs141249881 G A 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.122;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.063;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVWA5B1;Func=intronic;Gene=NM_001039500;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289815.12,ENST00000375079.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e478\x3bName\x3e"41902:Charlie18a(DNA)";avsnp150=rs141249881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,23:48:99:566,0,628 1 20688236 rs6696105 T G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01141;Func=ncRNA_exonic;Gene=NR_033887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426428.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.7579;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 20725781 rs11579797 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01141;Func=ncRNA_intronic;Gene=NR_033887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426428.5,ENST00000418743.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11579797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.408;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.3069;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 20827031 rs531651 A G 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=11;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.097;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUL1;Func=UTR3;Gene=NM_024544;GeneDetail=NM_024544:c.*152T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264198.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs531651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.1715;1000g2015aug_all=0.171925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,191 1 20827107 rs41265061 C T 435.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.632;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.609;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUL1;Func=UTR3;Gene=NM_024544;GeneDetail=NM_024544:c.*76G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264198.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41265061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.013;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:464,0,353 1 20827216 rs595980 C T 1618.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.191;DP=123;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.504;SOR=0.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUL1;Func=exonic;Gene=NM_024544;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MUL1:NM_024544:exon4:c.G1026A:p.A342A;Gencode=Name\x3eENST00000264198.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs595980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.1023;1000g2015aug_all=0.0712859;esp6500siv2_all=0.1561;ExAC_ALL=0.1515;ExAC_AFR=0.0565;ExAC_AMR=0.0756;ExAC_EAS=0.0006;ExAC_FIN=0.1372;ExAC_NFE=0.2142;ExAC_OTH=0.1654;ExAC_SAS=0.0749;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,64:123:99:1647,0,1516 1 20829560 rs2641114 G A 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUL1;Func=intronic;Gene=NM_024544;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264198.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e396\x3bName\x3e"42285:MIRb(SINE)";avsnp150=rs2641114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.4798;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:109,0,109 1 20846736 rs1815542 G A 214.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.103;DP=24;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.44;SOR=0.942;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024544,NM_207334;GeneDetail=dist\x3e12062\x3bdist\x3e32196;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4443\x3bName\x3e"42337:HUERS-P1-int(LTR)";avsnp150=rs1815542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5417;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.4755;1000g2015aug_all=0.464856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:243,0,376 1 20915172 rs532545 C T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.059;1000g2015aug_amr=0.3084;1000g2015aug_all=0.186102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 20915418 rs603412 C G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.3501;1000g2015aug_all=0.239018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 20915531 rs602950 A G 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.61;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=UTR5;Gene=NM_001785;GeneDetail=NM_001785:c.-92A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs602950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.3084;1000g2015aug_all=0.188698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 20915701 rs2072671 A C 1357.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=exonic;Gene=NM_001785;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDA:NM_001785:exon1:c.A79C:p.K27Q;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.3055;1000g2015aug_all=0.192692;esp6500siv2_all=0.2640;ExAC_ALL=0.2758;ExAC_AFR=0.0914;ExAC_AMR=0.2784;ExAC_EAS=0.1253;ExAC_FIN=0.2044;ExAC_NFE=0.3427;ExAC_OTH=0.2671;ExAC_SAS=0.2272;SIFT_score=0.308;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.17;MutationAssessor_pred=L;FATHMM_score=0.98;FATHMM_pred=T;phyloP100way_vertebrate=1.373;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=7.795;gerp++gt2=3.98;CADD=1.907;CADD_Phred=15.63;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1386,117,0 1 20917521 rs818201 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=intronic;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs818201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.525;1000g2015aug_amr=0.5159;1000g2015aug_all=0.477236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 20940258 rs488991 T A 1888.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=intronic;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs488991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9085;1000g2015aug_amr=0.9942;1000g2015aug_all=0.97484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1917,183,0 1 20944889 rs77158575 G A 2087.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=1.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=intronic;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e456\x3bName\x3e"42640:MIR(SINE)";avsnp150=rs77158575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.317;1000g2015aug_all=0.311502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2116,192,0 1 20944909 rs61781969 G A 2472.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=1.55;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=intronic;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e456\x3bName\x3e"42640:MIR(SINE)";avsnp150=rs61781969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.317;1000g2015aug_all=0.311502;esp6500siv2_all=0.3427;ExAC_ALL=0.3378;ExAC_AFR=0.4091;ExAC_AMR=0.3552;ExAC_EAS=0.2887;ExAC_FIN=0.3626;ExAC_NFE=0.3458;ExAC_OTH=0.3038;ExAC_SAS=0.2798;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2501,231,0 1 20944922 rs61781970 C T 2794.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.583;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=intronic;Gene=NM_001785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e456\x3bName\x3e"42640:MIR(SINE)";avsnp150=rs61781970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.317;1000g2015aug_all=0.311502;esp6500siv2_all=0.3421;ExAC_ALL=0.3556;ExAC_AFR=0.4236;ExAC_AMR=0.3777;ExAC_EAS=0.3034;ExAC_FIN=0.3865;ExAC_NFE=0.3634;ExAC_OTH=0.3218;ExAC_SAS=0.2916;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2823,261,0 1 20945055 rs1048977 C T 3559.77 PASS AC=2;AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=1.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDA;Func=exonic;Gene=NM_001785;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDA:NM_001785:exon4:c.C435T:p.T145T;Gencode=Name\x3eENST00000375071.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.379;1000g2015aug_amr=0.317;1000g2015aug_all=0.311102;esp6500siv2_all=0.3423;ExAC_ALL=0.3088;ExAC_AFR=0.3883;ExAC_AMR=0.2973;ExAC_EAS=0.2393;ExAC_FIN=0.3271;ExAC_NFE=0.3166;ExAC_OTH=0.2777;ExAC_SAS=0.2660;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,116:116:99:3588,348,0 1 20960385 rs148871409 A T 481.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePINK1;Func=exonic;Gene=NM_032409;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PINK1:NM_032409:exon1:c.A344T:p.Q115L;Gencode=Name\x3eENST00000321556.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148871409;cosmic70=.;CLNALLELEID=279796;CLNDN=Parkinson_disease_6,_autosomal_recessive_early-onset|not_specified|Parkinson_Disease,_Recessive;CLNDISDB=MedGen:C1853833,OMIM:605909|MedGen:CN169374|MedGen:CN239372;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0147764;esp6500siv2_all=0.0326;ExAC_ALL=0.0643;ExAC_AFR=0.0196;ExAC_AMR=0.0442;ExAC_EAS=0;ExAC_FIN=0.1092;ExAC_NFE=0.1061;ExAC_OTH=0.0403;ExAC_SAS=0.0070;SIFT_score=0.322;SIFT_pred=T;Polyphen2_HDIV_score=0.115;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=0.084;LRT_pred=N;MutationTaster_score=0.885;MutationTaster_pred=D;MutationAssessor_score=1.265;MutationAssessor_pred=L;FATHMM_score=-0.77;FATHMM_pred=T;phyloP100way_vertebrate=1.173;phyloP20way_mammalian=0.039;SiPhy_29way_logOdds=9.001;gerp++gt2=3.87;CADD=2.118;CADD_Phred=16.97;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:510,48,0 1 20964270 rs2298297 C G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePINK1;Func=intronic;Gene=NM_032409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000321556.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.1816;1000g2015aug_all=0.130391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 20980922 rs2070658 G A 3910.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDOST;Func=intronic;Gene=NM_005216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375048.7,ENST00000602624.6,ENST00000415136.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.17;1000g2015aug_all=0.105431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:3939,367,0 1 20981768 rs115601582 G T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.79;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDOST;Func=intronic;Gene=NM_005216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375048.7,ENST00000602624.6,ENST00000415136.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e704\x3bName\x3e"42724:AluJr(SINE)";avsnp150=rs115601582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 20981806 rs592851 G A 726.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDOST;Func=intronic;Gene=NM_005216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415136.6,ENST00000602624.6,ENST00000375048.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs592851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:755,60,0 1 20987873 rs537816 G C 2838.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=1.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDOST;Func=exonic;Gene=NM_005216;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DDOST:NM_005216:exon1:c.C22G:p.R8G;Gencode=Name\x3eENST00000375048.7,ENST00000602624.6,ENST00000415136.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs537816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973043;esp6500siv2_all=0.9746;ExAC_ALL=0.9925;ExAC_AFR=0.9175;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9940;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.72;FATHMM_pred=T;phyloP100way_vertebrate=-0.184;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.342;gerp++gt2=3.4;CADD=2.284;CADD_Phred=18.06;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2867,243,0 1 20988333 rs650452 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs650452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 20988347 rs533294 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs533294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 20992933 rs573268 G C 1477.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=3.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1506,117,0 1 20996757 rs1570663 T G 426.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.49;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1570663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.1392;1000g2015aug_amr=0.268;1000g2015aug_all=0.207867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:455,36,0 1 20997072 rs41265075 A G 3291.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000375044.5,ENST00000247986.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41265075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0213658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3320,300,0 1 21011346 rs12028811 A G 391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.527;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.171;SOR=0.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=exonic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF17:NM_001122819:exon10:c.T2187C:p.T729T,KIF17:NM_001287212:exon10:c.T1887C:p.T629T,KIF17:NM_020816:exon10:c.T2187C:p.T729T;Gencode=Name\x3eENST00000400463.7,ENST00000375044.5,ENST00000247986.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12028811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.1455;1000g2015aug_all=0.225439;esp6500siv2_all=0.1501;ExAC_ALL=0.1860;ExAC_AFR=0.3187;ExAC_AMR=0.1881;ExAC_EAS=0.3818;ExAC_FIN=0.0847;ExAC_NFE=0.1297;ExAC_OTH=0.1658;ExAC_SAS=0.1868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,14:32:99:420,0,541 1 21016487 rs489334 C T 567.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1001\x3bName\x3e"42814:MIR(SINE)";avsnp150=rs489334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.59;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.5144;1000g2015aug_all=0.615016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:596,51,0 1 21016906 rs493018 G T 583.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=2.334;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.41;MQRankSum=4.25;QD=34.34;ReadPosRankSum=1.736;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs493018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.848;1000g2015aug_amr=0.4712;1000g2015aug_all=0.633187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,16:17:41:612,41,0 1 21023131 rs674102 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs674102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.5757;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.4597;1000g2015aug_all=0.632588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21023145 rs674081 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000247986.2,ENST00000375044.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs674081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.4597;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21024743 rs521424 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e422\x3bName\x3e"42835:MIRb(SINE)";avsnp150=rs521424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.331;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.4049;1000g2015aug_all=0.476637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 21024860 rs41302005 C A 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.42;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.235;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41302005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0113818;esp6500siv2_all=0.0249;ExAC_ALL=0.0295;ExAC_AFR=0.0051;ExAC_AMR=0.0123;ExAC_EAS=0;ExAC_FIN=0.0342;ExAC_NFE=0.0390;ExAC_OTH=0.0289;ExAC_SAS=0.0326;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,18:27:99:541,0,249 1 21024901 rs522496 C T 264.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.14;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.56;ReadPosRankSum=0.017;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=exonic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIF17:NM_001122819:exon6:c.G1204A:p.V402M,KIF17:NM_001287212:exon6:c.G904A:p.V302M,KIF17:NM_020816:exon6:c.G1204A:p.V402M;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs522496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.719;1000g2015aug_all=0.596845;esp6500siv2_all=0.5914;ExAC_ALL=0.6210;ExAC_AFR=0.4918;ExAC_AMR=0.6605;ExAC_EAS=0.6299;ExAC_FIN=0.6702;ExAC_NFE=0.6411;ExAC_OTH=0.6116;ExAC_SAS=0.5700;SIFT_score=0.794;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.914;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;phyloP100way_vertebrate=0.127;phyloP20way_mammalian=0.090;SiPhy_29way_logOdds=7.644;gerp++gt2=2.87;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,12:35:99:293,0,654 1 21025139 rs4654868 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e352\x3bName\x3e"42836:L2a(LINE)";avsnp150=rs4654868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.1369;1000g2015aug_all=0.058107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 21030902 rs900039 G T 806.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.813;DP=42;ExcessHet=3.0103;FS=4.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-1.201;SOR=0.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs900039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0615;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.33;1000g2015aug_all=0.24381;esp6500siv2_all=0.3641;ExAC_ALL=0.3960;ExAC_AFR=0.2125;ExAC_AMR=0.3017;ExAC_EAS=0.0788;ExAC_FIN=0.4564;ExAC_NFE=0.4821;ExAC_OTH=0.4121;ExAC_SAS=0.3381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,28:42:99:835,0,420 1 21031042 rs2296225 T C 1951.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.163;DP=160;ExcessHet=3.0103;FS=1.293;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.716;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=exonic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIF17:NM_001122819:exon5:c.A1021G:p.I341V,KIF17:NM_001287212:exon5:c.A721G:p.I241V,KIF17:NM_020816:exon5:c.A1021G:p.I341V;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eEosinophilic_esophagitis;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.062;1000g2015aug_all=0.163738;esp6500siv2_all=0.0883;ExAC_ALL=0.1202;ExAC_AFR=0.0973;ExAC_AMR=0.0895;ExAC_EAS=0.3173;ExAC_FIN=0.0418;ExAC_NFE=0.0789;ExAC_OTH=0.1200;ExAC_SAS=0.2514;SIFT_score=0.167;SIFT_pred=T;Polyphen2_HDIV_score=0.084;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.094;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=U;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=2.01;MutationAssessor_pred=M;FATHMM_score=-0.58;FATHMM_pred=T;phyloP100way_vertebrate=1.492;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=9.218;gerp++gt2=5.26;CADD=1.350;CADD_Phred=12.53;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,72:158:99:1980,0,2491 1 21036532 rs78114834 C T 91.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e582\x3bName\x3e"42871:MIRb(SINE)";avsnp150=rs78114834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0533;1000g2015aug_all=0.137979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 1 21040079 rs10799661 C A 2774.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=1.032;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375044.5,ENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8889;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.6398;1000g2015aug_all=0.751797;esp6500siv2_all=0.7160;ExAC_ALL=0.7318;ExAC_AFR=0.7466;ExAC_AMR=0.7129;ExAC_EAS=0.9116;ExAC_FIN=0.7244;ExAC_NFE=0.7135;ExAC_OTH=0.6918;ExAC_SAS=0.7248;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2803,219,0 1 21040088 rs41307866 C T 786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.682;DP=68;ExcessHet=3.0103;FS=1.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.755;SOR=0.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000375044.5,ENST00000247986.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41307866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.0548;1000g2015aug_all=0.152356;esp6500siv2_all=0.0889;ExAC_ALL=0.1211;ExAC_AFR=0.1327;ExAC_AMR=0.1082;ExAC_EAS=0.3505;ExAC_FIN=0.0510;ExAC_NFE=0.0842;ExAC_OTH=0.1165;ExAC_SAS=0.1803;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,35:68:99:815,0,868 1 21042094 rs12046928 G A 1000.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.119;DP=64;ExcessHet=3.0103;FS=3.566;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.449;SOR=0.32;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=exonic;Gene=NM_001122819,NM_020816;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF17:NM_001122819:exon2:c.C270T:p.Y90Y,KIF17:NM_020816:exon2:c.C270T:p.Y90Y;Gencode=Name\x3eENST00000400463.7,ENST00000247986.2,ENST00000375044.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12046928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.1614;1000g2015aug_all=0.280351;esp6500siv2_all=0.1134;ExAC_ALL=0.2013;ExAC_AFR=0.0833;ExAC_AMR=0.2659;ExAC_EAS=0.7505;ExAC_FIN=0.0826;ExAC_NFE=0.1233;ExAC_OTH=0.18;ExAC_SAS=0.3058;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,37:64:99:1029,0,765 1 21042300 rs554111 C G 647.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000375044.5,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e221\x3bName\x3e"42887:L2c(LINE)";avsnp150=rs554111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.6196;1000g2015aug_all=0.711661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:676,51,0 1 21043790 rs519209 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=intronic;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000247986.2,ENST00000375044.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs519209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.661;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.5937;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21043913 rs604659 T C 546.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=UTR5;Gene=NM_001287212;GeneDetail=NM_001287212:c.-1850A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000247986.2,ENST00000375044.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs604659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.661;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.5937;1000g2015aug_all=0.670727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:575,45,0 1 21043926 rs604645 T C 692.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=UTR5;Gene=NM_001287212;GeneDetail=NM_001287212:c.-1863A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400463.7,ENST00000375044.5,ENST00000247986.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs604645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.6499;1000g2015aug_all=0.769369;esp6500siv2_all=0.7346;ExAC_ALL=0.7234;ExAC_AFR=0.7920;ExAC_AMR=0.6901;ExAC_EAS=0.9027;ExAC_FIN=0.7144;ExAC_NFE=0.6938;ExAC_OTH=0.6789;ExAC_SAS=0.7365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:721,57,0 1 21044161 rs601329 A G 2110.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=1.107;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=exonic;Gene=NM_001122819,NM_020816;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF17:NM_001122819:exon1:c.T39C:p.R13R,KIF17:NM_020816:exon1:c.T39C:p.R13R;Gencode=Name\x3eENST00000400463.7,ENST00000247986.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs601329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.621;1000g2015aug_all=0.712061;esp6500siv2_all=0.6696;ExAC_ALL=0.7131;ExAC_AFR=0.6303;ExAC_AMR=0.6859;ExAC_EAS=0.9048;ExAC_FIN=0.7202;ExAC_NFE=0.6954;ExAC_OTH=0.6725;ExAC_SAS=0.7393;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2139,183,0 1 21044219 rs601392 A C 1425.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF17;Func=UTR5;Gene=NM_001122819,NM_001287212,NM_020816;GeneDetail=NM_001122819:c.-20T>G\x3bNM_001287212:c.-2156T>G\x3bNM_020816:c.-20T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247986.2,ENST00000400463.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs601392;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.839;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.804;1000g2015aug_all=0.92472;esp6500siv2_all=0.8820;ExAC_ALL=0.8526;ExAC_AFR=0.9579;ExAC_AMR=0.7523;ExAC_EAS=0.9994;ExAC_FIN=0.7480;ExAC_NFE=0.8016;ExAC_OTH=0.8613;ExAC_SAS=0.9194;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1454,129,0 1 21049518 rs12403580 C T 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.198;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.65;ReadPosRankSum=0.328;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.1628;1000g2015aug_all=0.276158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,17:55:99:394,0,1074 1 21049624 rs114401132 T C 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.396;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.895;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444387.6,ENST00000375031.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e938\x3bName\x3e"42899:AluJo(SINE)";avsnp150=rs114401132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,323 1 21049848 rs74840517 G A 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.049;DP=18;ExcessHet=3.0103;FS=4.931;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.489;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e403\x3bName\x3e"42900:MIR(SINE)";avsnp150=rs74840517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.062;1000g2015aug_amr=0.1628;1000g2015aug_all=0.275958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:295,0,161 1 21050270 rs3753047 C T 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.736;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.283;SOR=0.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444387.6,ENST00000375031.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0548;1000g2015aug_all=0.136981;esp6500siv2_all=0.0544;ExAC_ALL=0.1253;ExAC_AFR=0.0204;ExAC_AMR=0.0955;ExAC_EAS=0.3429;ExAC_FIN=0.0423;ExAC_NFE=0.0823;ExAC_OTH=0.1245;ExAC_SAS=0.2515;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:418,0,693 1 21050958 rs592060 C T 4070.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.028;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=exonic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs592060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.7622;1000g2015aug_all=0.879593;esp6500siv2_all=0.8203;ExAC_ALL=0.8054;ExAC_AFR=0.9604;ExAC_AMR=0.7693;ExAC_EAS=0.9932;ExAC_FIN=0.7566;ExAC_NFE=0.7627;ExAC_OTH=0.7717;ExAC_SAS=0.8332;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:4099,366,0 1 21051430 rs58464781 C A 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.524;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58464781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.062;1000g2015aug_amr=0.1628;1000g2015aug_all=0.275958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:105,0,68 1 21053887 rs10916853 C T 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.158;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.973;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.1686;1000g2015aug_all=0.295527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:219,0,177 1 21054726 rs646786 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D5;Func=intronic;Gene=NM_001103160,NM_001103161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375031.5,ENST00000444387.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e451\x3bName\x3e"42909:L2a(LINE)";avsnp150=rs646786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8859;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.5862;1000g2015aug_amr=0.6124;1000g2015aug_all=0.700679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 21071967 rs2274119 C T 236.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.636;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-1.269;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHP1BP3;Func=intronic;Gene=NM_016287;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375003.6,ENST00000312239.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0548;1000g2015aug_all=0.136781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,13:36:99:265,0,585 1 21081962 rs74462459 G C 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.231;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHP1BP3;Func=intronic;Gene=NM_016287;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375003.6,ENST00000312239.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1902\x3bName\x3e"42967:AluJb(SINE)";avsnp150=rs74462459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,141 1 21089472 rs7548269 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHP1BP3;Func=intronic;Gene=NM_016287;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312239.9,ENST00000375003.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1366\x3bName\x3e"42998:MSTB(LTR)";avsnp150=rs7548269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.3012;1000g2015aug_all=0.190096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21099846 rs589755 A G 511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.797;DP=34;ExcessHet=3.0103;FS=9.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.052;SOR=0.039;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHP1BP3;Func=intronic;Gene=NM_016287;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312239.9,ENST00000375003.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs589755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.4222;1000g2015aug_all=0.40635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,19:34:99:540,0,525 1 21103387 rs76853579 T C 169.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.26;ReadPosRankSum=-0.366;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHP1BP3;Func=intronic;Gene=NM_016287;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000375000.5,ENST00000312239.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76853579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:198,0,21 1 21143733 rs10916870 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264211.12,ENST00000602326.5,ENST00000400422.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6418\x3bName\x3e"43119:SVA_E(Retroposon)";avsnp150=rs10916870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.6316;1000g2015aug_amr=0.7839;1000g2015aug_all=0.73762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 21143774 rs12126757 A T 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=0.792;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000400422.5,ENST00000602326.5,ENST00000264211.12;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"43120:A-rich(Low_complexity)";avsnp150=rs12126757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.1104;1000g2015aug_amr=0.3069;1000g2015aug_all=0.207268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:66:226,0,66 1 21167404 rs2230573 A G 1069.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=exonic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L;Gencode=Name\x3eENST00000374935.7,ENST00000264211.12,ENST00000602326.5,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.9755;1000g2015aug_all=0.9377;esp6500siv2_all=0.9369;ExAC_ALL=0.9831;ExAC_AFR=0.8149;ExAC_AMR=0.9914;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9945;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1098,96,0 1 21174429 rs17449243 T C 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=-1.215;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000400422.5,ENST00000602326.5,ENST00000264211.12;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17449243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,122 1 21175855 rs7525082 C A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.72;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000602326.5,ENST00000264211.12,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7525082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.9755;1000g2015aug_all=0.9373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 21179969 rs7542882 G A 1399.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000264211.12,ENST00000602326.5,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.9755;1000g2015aug_all=0.9373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1428,123,0 1 21180181 rs2305463 C T 342.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.25;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.328;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000264211.12,ENST00000602326.5,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.5677;1000g2015aug_all=0.572684;esp6500siv2_all=0.5038;ExAC_ALL=0.5765;ExAC_AFR=0.4109;ExAC_AMR=0.6257;ExAC_EAS=0.8466;ExAC_FIN=0.5132;ExAC_NFE=0.5553;ExAC_OTH=0.5741;ExAC_SAS=0.6149;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:371,0,558 1 21180250 rs7543140 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400422.5,ENST00000264211.12,ENST00000602326.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e301\x3bName\x3e"43206:MER5A1(DNA)";avsnp150=rs7543140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.3737;1000g2015aug_amr=0.5879;1000g2015aug_all=0.586262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 21181595 rs1463273 A G 591.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.218;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.589;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264211.12,ENST00000602326.5,ENST00000400422.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1463273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0677;1000g2015aug_all=0.166334;esp6500siv2_all=0.0899;ExAC_ALL=0.1381;ExAC_AFR=0.0665;ExAC_AMR=0.0957;ExAC_EAS=0.3471;ExAC_FIN=0.0891;ExAC_NFE=0.1034;ExAC_OTH=0.1330;ExAC_SAS=0.2634;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:620,0,460 1 21184431 rs12561895 A T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400422.5,ENST00000602326.5,ENST00000264211.12,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1488\x3bName\x3e"43212:L2a(LINE)";avsnp150=rs12561895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.9755;1000g2015aug_all=0.9377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 21188703 rs10916885 A T 321.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.028;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000602326.5,ENST00000264211.12,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.5677;1000g2015aug_all=0.575679;esp6500siv2_all=0.4934;ExAC_ALL=0.5362;ExAC_AFR=0.3933;ExAC_AMR=0.5785;ExAC_EAS=0.7865;ExAC_FIN=0.4981;ExAC_NFE=0.5165;ExAC_OTH=0.5405;ExAC_SAS=0.5698;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,15:42:99:359,0,715 1 21188871 rs17409373 C A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400422.5,ENST00000602326.5,ENST00000264211.12,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17409373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.33;1000g2015aug_all=0.242412;esp6500siv2_all=0.3392;ExAC_ALL=0.3206;ExAC_AFR=0.2570;ExAC_AMR=0.2325;ExAC_EAS=0.0440;ExAC_FIN=0.3827;ExAC_NFE=0.3841;ExAC_OTH=0.3506;ExAC_SAS=0.2800;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 21191416 rs3816454 T G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.76;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-2.039;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602326.5,ENST00000264211.12,ENST00000400422.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3816454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.6455;1000g2015aug_all=0.694289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:221,0,429 1 21219050 rs6685306 C T 348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.02;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.404;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000400422.5,ENST00000602326.5,ENST00000264211.12;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.3012;1000g2015aug_all=0.183706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:377,0,619 1 21220375 rs2275468 T G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.104;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.306;SOR=0.252;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400422.5,ENST00000264211.12,ENST00000602326.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.6329;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.5439;1000g2015aug_amr=0.6009;1000g2015aug_all=0.636382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,5:20:99:115,0,466 1 21276854 rs3767248 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264211.12,ENST00000602326.5,ENST00000356916.7,ENST00000400422.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.3833;1000g2015aug_all=0.306709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 21295864 rs2271115 C T 1086.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000264211.12,ENST00000602326.5,ENST00000400422.5,ENST00000356916.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.379;1000g2015aug_all=0.317891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1115,102,0 1 21299363 rs6700718 C A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000602326.5,ENST00000264211.12,ENST00000356916.7,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6700718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.357;1000g2015aug_amr=0.3905;1000g2015aug_all=0.352636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 21325360 rs885363 C A 336.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264211.12,ENST00000602326.5,ENST00000400422.5,ENST00000356916.7,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs885363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.379;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=0.3826;ExAC_AFR=0.2883;ExAC_AMR=0.3352;ExAC_EAS=0.2172;ExAC_FIN=0.4612;ExAC_NFE=0.4047;ExAC_OTH=0.4074;ExAC_SAS=0.3702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:365,36,0 1 21327637 rs1395508 C T 2290.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264211.12,ENST00000602326.5,ENST00000356916.7,ENST00000400422.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1395508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.9755;1000g2015aug_all=0.9375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2319,201,0 1 21377314 rs6426663 C T 852.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803,NM_003760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000602326.5,ENST00000264211.12,ENST00000356916.7,ENST00000400422.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.9755;1000g2015aug_all=0.936701;esp6500siv2_all=.;ExAC_ALL=0.9914;ExAC_AFR=0.8306;ExAC_AMR=0.9817;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9897;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:881,78,0 1 21477940 rs9729251 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802,NM_001198803;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356916.7,ENST00000400422.5,ENST00000602326.5,ENST00000374935.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2636\x3bName\x3e"43833:AluY(SINE)";avsnp150=rs9729251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.33;1000g2015aug_all=0.24401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 21502956 rs533760551 G T 375.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.84;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF4G3;Func=intronic;Gene=NM_001198801,NM_001198802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374935.7,ENST00000400422.5,ENST00000602326.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32\x3bName\x3e"43893:G-rich(Low_complexity)";avsnp150=rs533760551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:404,42,0 1 21534237 rs12131134 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001198801,NM_001397;GeneDetail=dist\x3e30856\x3bdist\x3e9503;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5664\x3bName\x3e"44011:ERVL-B4-int(LTR)";avsnp150=rs12131134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.23;1000g2015aug_amr=0.3473;1000g2015aug_all=0.268371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21537562 rs9426742 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001198801,NM_001397;GeneDetail=dist\x3e34181\x3bdist\x3e6178;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2384\x3bName\x3e"44023:AluSc5(SINE)";avsnp150=rs9426742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.4784;1000g2015aug_all=0.607628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 21551550 rs2038090 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6,ENST00000264205.10,ENST00000374893.10,ENST00000436918.6,ENST00000357071.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2038090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.2378;1000g2015aug_all=0.182508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 21553933 rs6665399 T C 200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.589;DP=21;ExcessHet=3.0103;FS=2.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.597;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6,ENST00000264205.10,ENST00000357071.8,ENST00000374893.10,ENST00000436918.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e425\x3bName\x3e"44068:MIRb(SINE)";avsnp150=rs6665399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.3905;1000g2015aug_all=0.503395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:229,0,448 1 21554319 rs6426676 A G 581.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357071.8,ENST00000436918.6,ENST00000374893.10,ENST00000415912.6,ENST00000264205.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.987;1000g2015aug_all=0.98742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:610,54,0 1 21560253 rs28368029 G C 1041.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.675;DP=70;ExcessHet=3.0103;FS=2.196;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.041;SOR=0.444;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357071.8,ENST00000374893.10,ENST00000436918.6,ENST00000264205.10,ENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28368029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.152;1000g2015aug_amr=0.245;1000g2015aug_all=0.1875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,38:70:99:1070,0,908 1 21571601 rs12562197 G A 1105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.063;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.377;SOR=0.642;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6,ENST00000264205.10,ENST00000436918.6,ENST00000374893.10,ENST00000357071.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12562197;cosmic70=.;CLNALLELEID=249711;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.028;1000g2015aug_amr=0.2781;1000g2015aug_all=0.160144;esp6500siv2_all=0.2080;ExAC_ALL=0.2405;ExAC_AFR=0.0700;ExAC_AMR=0.2149;ExAC_EAS=0.1356;ExAC_FIN=0.2985;ExAC_NFE=0.2873;ExAC_OTH=0.2652;ExAC_SAS=0.2050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,38:70:99:1134,0,922 1 21573722 rs2229450 G A 913.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.347;DP=65;ExcessHet=3.0103;FS=3.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.939;SOR=1.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=exonic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ECE1:NM_001113347:exon7:c.C1119T:p.T373T,ECE1:NM_001113349:exon8:c.C1146T:p.T382T,ECE1:NM_001113348:exon9:c.C1107T:p.T369T,ECE1:NM_001397:exon9:c.C1155T:p.T385T;Gencode=Name\x3eENST00000264205.10,ENST00000415912.6,ENST00000357071.8,ENST00000436918.6,ENST00000374893.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229450;cosmic70=.;CLNALLELEID=249712;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2709;1000g2015aug_all=0.146765;esp6500siv2_all=0.1970;ExAC_ALL=0.2204;ExAC_AFR=0.0526;ExAC_AMR=0.2071;ExAC_EAS=0.1339;ExAC_FIN=0.2591;ExAC_NFE=0.2684;ExAC_OTH=0.2522;ExAC_SAS=0.1696;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,32:65:99:942,0,943 1 21582348 rs2076282 T C 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.385;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.356;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357071.8,ENST00000436918.6,ENST00000374893.10,ENST00000264205.10,ENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e548\x3bName\x3e"44156:MIRb(SINE)";avsnp150=rs2076282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.2651;1000g2015aug_all=0.145168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:276,0,329 1 21582821 rs12728035 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6,ENST00000264205.10,ENST00000374893.10,ENST00000436918.6,ENST00000357071.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2240\x3bName\x3e"44157:AluSx1(SINE)";avsnp150=rs12728035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.2983;1000g2015aug_all=0.175719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 21583925 rs2076280 C T 872.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.872;DP=61;ExcessHet=3.0103;FS=4.188;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.97;SOR=0.28;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6,ENST00000264205.10,ENST00000374893.10,ENST00000436918.6,ENST00000357071.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.2622;1000g2015aug_all=0.14357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,35:61:99:901,0,795 1 21583973 rs3026879 A G 1382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.248;DP=98;ExcessHet=3.0103;FS=12.073;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.472;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357071.8,ENST00000436918.6,ENST00000374893.10,ENST00000264205.10,ENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3026879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.2651;1000g2015aug_all=0.145168;esp6500siv2_all=0.1852;ExAC_ALL=0.2160;ExAC_AFR=0.0562;ExAC_AMR=0.2088;ExAC_EAS=0.1432;ExAC_FIN=0.2693;ExAC_NFE=0.2587;ExAC_OTH=0.2482;ExAC_SAS=0.1651;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,54:98:99:1411,0,1259 1 21584941 rs212526 T C 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.319;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-2.027;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113347,NM_001113348,NM_001113349,NM_001397;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374893.10,ENST00000436918.6,ENST00000357071.8,ENST00000415912.6,ENST00000264205.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs212526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.6758;1000g2015aug_all=0.760383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:277,0,368 1 21625145 rs10916958 T C 742.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.373;DP=59;ExcessHet=3.0103;FS=6.08;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.619;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1,LOC100506801;Func=ncRNA_exonic;Gene=NR_038404;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449034.1,ENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.1657;1000g2015aug_all=0.143171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,26:59:99:771,0,928 1 21657162 rs213039 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs213039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.451;1000g2015aug_all=0.544529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21666316 rs3026813 C A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=intronic;Gene=NM_001113348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3026813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3155;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.0951;1000g2015aug_all=0.138978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 21671943 rs2072654 T G 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECE1;Func=UTR5;Gene=NM_001113348;GeneDetail=NM_001113348:c.-72A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415912.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25\x3bName\x3e"44389:(GCTCCCG)n(Simple_repeat)";avsnp150=rs2072654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.8109;1000g2015aug_amr=0.4928;1000g2015aug_all=0.611022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 21724753 rs10157514 C A 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.398;DP=31;ExcessHet=3.0103;FS=1.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.191;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e52719\x3bdist\x3e41830;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.916793\x3bName\x3echr6:30068589;Repeat=.;avsnp150=rs10157514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.0331;1000g2015aug_all=0.110623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,17:31:99:407,0,389 1 21738020 rs2316499 A G 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.632;DP=15;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=1.278;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e65986\x3bdist\x3e28563;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.961603\x3bName\x3echr1:16849163;Repeat=.;avsnp150=rs2316499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.5613;1000g2015aug_amr=0.7118;1000g2015aug_all=0.660343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:297,0,193 1 21751214 rs4291472 G A 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.553;DP=83;ExcessHet=3.0103;FS=6.307;MLEAC=1;MLEAF=0.5;MQ=41.74;MQRankSum=-0.362;QD=6.83;ReadPosRankSum=0.988;SOR=1.326;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e79180\x3bdist\x3e15369;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21480013;Repeat=.;avsnp150=rs4291472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,25:83:99:595,0,1400 1 21752682 rs2316503 G A 168.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.779;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.24;MQRankSum=-2.348;QD=5.44;ReadPosRankSum=-0.087;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e80648\x3bdist\x3e13901;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21480013;Repeat=.;avsnp150=rs2316503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,9:31:99:197,0,766 1 21753562 rs146549873 A C 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.552;DP=35;ExcessHet=3.0103;FS=6.103;MLEAC=1;MLEAF=0.5;MQ=43.63;MQRankSum=-3.559;QD=4.05;ReadPosRankSum=2.02;SOR=1.247;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e81528\x3bdist\x3e13021;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21480013;Repeat=.;avsnp150=rs146549873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,9:35:99:170,0,649 1 21753715 rs7364712 T C 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.367;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.84;MQRankSum=0.166;QD=15.65;ReadPosRankSum=-0.457;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e81681\x3bdist\x3e12868;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21480013;Repeat=.;avsnp150=rs7364712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:263,0,145 1 21754283 rs6426689 A C 1430.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.49;QD=34.9;SOR=2.038;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e82249\x3bdist\x3e12300;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21480013;Repeat=.;avsnp150=rs6426689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.559;1000g2015aug_amr=0.9611;1000g2015aug_all=0.877995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1459,123,0 1 21754488 rs72476502 G A 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.446;DP=22;ExcessHet=3.0103;FS=2.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.033;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e82454\x3bdist\x3e12095;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72476502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.1455;1000g2015aug_all=0.143371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,12:22:99:318,0,318 1 21754996 rs12024079 C T 1397.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.26;QD=28.53;SOR=1.007;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e82962\x3bdist\x3e11587;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12024079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.9597;1000g2015aug_all=0.873003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1426,146,0 1 21755347 rs41310392 C T 501.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.449;DP=50;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=58.33;MQRankSum=-1.701;QD=10.04;ReadPosRankSum=0.968;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83313\x3bdist\x3e11236;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs41310392;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.454;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.205;1000g2015aug_amr=0.536;1000g2015aug_all=0.476038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,22:50:99:530,0,747 1 21755453 rs3856177 G A 206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.818;DP=46;ExcessHet=3.0103;FS=19.044;MLEAC=1;MLEAF=0.5;MQ=52.49;MQRankSum=-4.187;QD=4.49;ReadPosRankSum=-0.746;SOR=2.227;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83419\x3bdist\x3e11130;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs3856177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,10:46:99:235,0,1119 1 21755756 rs7532463 G C 1732.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.457;DP=156;ExcessHet=3.0103;FS=2.849;MLEAC=1;MLEAF=0.5;MQ=55.8;MQRankSum=-1.949;QD=11.18;ReadPosRankSum=-1.525;SOR=0.935;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83722\x3bdist\x3e10827;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs7532463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.7896;1000g2015aug_all=0.688498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,67:155:99:1761,0,2307 1 21755867 rs7522332 A G 1646.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.72;DP=140;ExcessHet=3.0103;FS=2.183;MLEAC=1;MLEAF=0.5;MQ=55.63;MQRankSum=-8.163;QD=11.76;ReadPosRankSum=-1.292;SOR=0.488;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83833\x3bdist\x3e10716;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs7522332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.7896;1000g2015aug_all=0.688498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,70:140:99:1675,0,1957 1 21755906 rs3738922 G A 1174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.087;DP=103;ExcessHet=3.0103;FS=2.78;MLEAC=1;MLEAF=0.5;MQ=54.91;MQRankSum=-8.09;QD=11.41;ReadPosRankSum=-0.272;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83872\x3bdist\x3e10677;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs3738922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.7896;1000g2015aug_all=0.688498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,46:103:99:1203,0,1594 1 21756008 rs3894725 G T 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.03;DP=26;ExcessHet=3.0103;FS=2.764;MLEAC=1;MLEAF=0.5;MQ=58.27;MQRankSum=-0.235;QD=10.34;ReadPosRankSum=-0.297;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e83974\x3bdist\x3e10575;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.987044\x3bName\x3echr2:128265479;Repeat=.;avsnp150=rs3894725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.7896;1000g2015aug_all=0.688698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,9:26:99:297,0,530 1 21763132 rs10916990 T A 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001113348,NM_001256417;GeneDetail=dist\x3e91098\x3bdist\x3e3451;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.917824\x3bName\x3echr1:16630319;Repeat=.;avsnp150=rs10916990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.4959;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.5865;1000g2015aug_all=0.526558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:75:109,0,75 1 21795388 rs1827293 A G 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.335;DP=41;ExcessHet=3.0103;FS=1.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.535;SOR=0.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=exonic;Gene=NM_001256416,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF3:NM_001256416:exon3:c.A341G:p.Y114C,NBPF3:NM_032264:exon3:c.A341G:p.Y114C,NBPF3:NM_001330381:exon7:c.A173G:p.Y58C;Gencode=Name\x3eENST00000318249.9,ENST00000342104.9,ENST00000619554.1,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs1827293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.4755;1000g2015aug_all=0.423922;esp6500siv2_all=0.4403;ExAC_ALL=0.5182;ExAC_AFR=0.2062;ExAC_AMR=0.5494;ExAC_EAS=0.5618;ExAC_FIN=0.5360;ExAC_NFE=0.5603;ExAC_OTH=0.5606;ExAC_SAS=0.4898;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.995;MutationAssessor_pred=M;FATHMM_score=3.55;FATHMM_pred=T;phyloP100way_vertebrate=0.172;phyloP20way_mammalian=0.360;SiPhy_29way_logOdds=1.989;gerp++gt2=.;CADD=2.367;CADD_Phred=18.61;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,16:41:99:375,0,568 1 21797221 rs145790279 A G 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=exonic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF3:NM_001256417:exon3:c.A230G:p.E77G,NBPF3:NM_001256416:exon4:c.A440G:p.E147G,NBPF3:NM_032264:exon4:c.A440G:p.E147G,NBPF3:NM_001330381:exon8:c.A272G:p.E91G;Gencode=Name\x3eENST00000454000.6,ENST00000318249.9,ENST00000342104.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs145790279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0129;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00439297;esp6500siv2_all=0.0088;ExAC_ALL=0.0093;ExAC_AFR=0.0017;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0130;ExAC_NFE=0.0131;ExAC_OTH=0.0077;ExAC_SAS=0.0050;SIFT_score=0.023;SIFT_pred=D;Polyphen2_HDIV_score=0.862;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.405;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.07;MutationAssessor_pred=L;FATHMM_score=3.78;FATHMM_pred=T;phyloP100way_vertebrate=0.004;phyloP20way_mammalian=0.515;SiPhy_29way_logOdds=5.941;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 21797419 rs4654944 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000342104.9,ENST00000318249.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs4654944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7925;1000g2015aug_all=0.749601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21797996 rs2004380 G A 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.306;DP=16;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.546;SOR=2.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000318249.9,ENST00000342104.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs2004380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.4755;1000g2015aug_all=0.423922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,4:16:99:118,0,317 1 21799489 rs1971327 T C 1624.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000342104.9,ENST00000318249.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs1971327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7925;1000g2015aug_all=0.749601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1653,141,0 1 21799823 rs1971328 A G 867.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000619554.1,ENST00000342104.9,ENST00000318249.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.944783\x3bName\x3echr1:16587032;Repeat=.;avsnp150=rs1971328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.438;1000g2015aug_amr=0.7594;1000g2015aug_all=0.70647;esp6500siv2_all=0.6435;ExAC_ALL=0.7400;ExAC_AFR=0.4774;ExAC_AMR=0.8177;ExAC_EAS=0.8084;ExAC_FIN=0.7042;ExAC_NFE=0.7269;ExAC_OTH=0.7517;ExAC_SAS=0.8760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:896,72,0 1 21800185 rs7520015 T G 299.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000318249.9,ENST00000342104.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs7520015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7925;1000g2015aug_all=0.749601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:328,24,0 1 21800219 rs10916996 C T 121.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000318249.9,ENST00000342104.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs10916996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.438;1000g2015aug_amr=0.7594;1000g2015aug_all=0.70647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:149,12,0 1 21801346 rs7531217 G A 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000619554.1,ENST00000342104.9,ENST00000318249.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs7531217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7925;1000g2015aug_all=0.749601;esp6500siv2_all=0.7086;ExAC_ALL=0.7819;ExAC_AFR=0.5711;ExAC_AMR=0.8351;ExAC_EAS=0.8079;ExAC_FIN=0.7530;ExAC_NFE=0.7754;ExAC_OTH=0.7841;ExAC_SAS=0.9008;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 21804815 rs7535654 T G 3304.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000342104.9,ENST00000318249.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs7535654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7965;1000g2015aug_amr=0.9726;1000g2015aug_all=0.942093;esp6500siv2_all=0.9360;ExAC_ALL=0.9820;ExAC_AFR=0.8102;ExAC_AMR=0.9914;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9934;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3333,288,0 1 21805048 rs4654947 C T 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000342104.9,ENST00000318249.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs4654947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.7911;1000g2015aug_all=0.748802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 21805730 rs2316504 A G 3621.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.82;SOR=2.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000342104.9,ENST00000318249.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs2316504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7925;1000g2015aug_all=0.7498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3650,312,0 1 21805978 rs4654948 G A 2105.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=3.461;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000342104.9,ENST00000318249.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.919239\x3bName\x3echr1_KI270711v1_random:2930;Repeat=.;avsnp150=rs4654948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.7925;1000g2015aug_all=0.749201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2134,171,0 1 21806447 rs3820296 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000619554.1,ENST00000342104.9,ENST00000318249.9;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.922398\x3bName\x3echr1:149052430;Repeat=.;avsnp150=rs3820296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.4755;1000g2015aug_all=0.424121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 21806525 rs41290414 A T 423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.431;DP=20;ExcessHet=3.0103;FS=11.491;MLEAC=1;MLEAF=0.5;MQ=57.28;MQRankSum=2.221;QD=22.3;ReadPosRankSum=0.439;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454000.6,ENST00000318249.9,ENST00000342104.9,ENST00000619554.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21421427;Repeat=.;avsnp150=rs41290414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.0893;1000g2015aug_all=0.142572;esp6500siv2_all=0.1127;ExAC_ALL=0.1582;ExAC_AFR=0.0296;ExAC_AMR=0.0760;ExAC_EAS=0.1506;ExAC_FIN=0.1392;ExAC_NFE=0.1525;ExAC_OTH=0.1511;ExAC_SAS=0.3202;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:91:452,0,91 1 21806751 rs12083322 C T 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.43;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000318249.9,ENST00000342104.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21421427;Repeat=.;avsnp150=rs12083322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.3545;1000g2015aug_all=0.345447;esp6500siv2_all=0.2981;ExAC_ALL=0.3677;ExAC_AFR=0.3159;ExAC_AMR=0.5061;ExAC_EAS=0.4703;ExAC_FIN=0.2821;ExAC_NFE=0.2959;ExAC_OTH=0.3403;ExAC_SAS=0.6039;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 21806821 rs2800935 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619554.1,ENST00000342104.9,ENST00000318249.9,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21421427;Repeat=.;avsnp150=rs2800935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.649;1000g2015aug_amr=0.7738;1000g2015aug_all=0.745407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 21809524 rs2800941 A C 121.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.63;QD=30.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF3;Func=intronic;Gene=NM_001256416,NM_001256417,NM_001330381,NM_032264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342104.9,ENST00000318249.9,ENST00000619554.1,ENST00000454000.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.989645\x3bName\x3echr1:21421427;Repeat=.;avsnp150=rs2800941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.7882;1000g2015aug_all=0.74401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:149,12,0 1 21816200 rs1809914 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256417,NM_000478;GeneDetail=dist\x3e4807\x3bdist\x3e19651;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2572\x3bName\x3e"44757:AluY(SINE)";avsnp150=rs1809914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.8357;1000g2015aug_all=0.725639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 21820961 rs10799699 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256417,NM_000478;GeneDetail=dist\x3e9568\x3bdist\x3e14890;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.202;1000g2015aug_amr=0.5447;1000g2015aug_all=0.478634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21820968 rs10799700 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256417,NM_000478;GeneDetail=dist\x3e9575\x3bdist\x3e14883;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.202;1000g2015aug_amr=0.5447;1000g2015aug_all=0.478435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21889506 rs1256336 C T 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.173;DP=24;ExcessHet=3.0103;FS=1.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-1.501;SOR=1.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374840.7,ENST00000540617.5,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1256336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.3495;1000g2015aug_amr=0.1513;1000g2015aug_all=0.182708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,8:24:99:189,0,448 1 21889635 rs1780316 T C 704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.867;DP=62;ExcessHet=3.0103;FS=1.002;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.095;SOR=0.482;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=exonic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALPL:NM_001177520:exon3:c.T99C:p.S33S,ALPL:NM_001127501:exon4:c.T165C:p.S55S,ALPL:NM_000478:exon5:c.T330C:p.S110S;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000374840.7,ENST00000540617.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1780316;cosmic70=.;CLNALLELEID=194839;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9821;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9374;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.9539;1000g2015aug_all=0.929513;esp6500siv2_all=0.9217;ExAC_ALL=0.9450;ExAC_AFR=0.8664;ExAC_AMR=0.9735;ExAC_EAS=0.9878;ExAC_FIN=0.9318;ExAC_NFE=0.9456;ExAC_OTH=0.9502;ExAC_SAS=0.9542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,26:61:99:733,0,974 1 21890386 rs1256335 G A 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.32;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1256335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eFolate_pathway_vitamin_levels;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.8646;1000g2015aug_all=0.829872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:250,0,250 1 21890464 rs1767428 A G 2328.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=4.277;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000540617.5,ENST00000374840.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"44982:(GGGA)n(Simple_repeat)";avsnp150=rs1767428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9957;1000g2015aug_all=0.986422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2357,192,0 1 21894735 rs3200254 T C 1074.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.119;DP=67;ExcessHet=3.0103;FS=3.671;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.927;SOR=0.318;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=exonic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ALPL:NM_001177520:exon5:c.T556C:p.Y186H,ALPL:NM_001127501:exon6:c.T622C:p.Y208H,ALPL:NM_000478:exon7:c.T787C:p.Y263H;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000540617.5,ENST00000374840.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3200254;cosmic70=.;CLNALLELEID=195584;CLNDN=Hypophosphatasia|not_specified;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4534;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.268;1000g2015aug_all=0.266973;esp6500siv2_all=0.1588;ExAC_ALL=0.1791;ExAC_AFR=0.2551;ExAC_AMR=0.2584;ExAC_EAS=0.4525;ExAC_FIN=0.1919;ExAC_NFE=0.1076;ExAC_OTH=0.1574;ExAC_SAS=0.2174;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.120;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.07;MutationAssessor_pred=N;FATHMM_score=-3.95;FATHMM_pred=D;phyloP100way_vertebrate=0.057;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=0.770;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,41:67:99:1103,0,611 1 21894785 rs3738098 G T 769.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.117;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=0.982;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738098;cosmic70=.;CLNALLELEID=249716;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4534;1000g2015aug_sas=0.226;1000g2015aug_eur=0.0825;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.219;1000g2015aug_all=0.183307;esp6500siv2_all=0.0509;ExAC_ALL=0.1261;ExAC_AFR=0.0169;ExAC_AMR=0.2283;ExAC_EAS=0.4499;ExAC_FIN=0.1029;ExAC_NFE=0.0652;ExAC_OTH=0.1070;ExAC_SAS=0.2114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,27:40:99:798,0,315 1 21894816 rs3738097 T C 504.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.389;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.04;ReadPosRankSum=0.248;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000540617.5,ENST00000374840.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4534;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.268;1000g2015aug_all=0.267173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,16:21:99:533,0,129 1 21896887 rs2275377 G T 617.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.69;DP=58;ExcessHet=3.0103;FS=3.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.58;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539907.5,ENST00000540617.5,ENST00000374840.7,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275377;cosmic70=.;CLNALLELEID=249718;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.268;1000g2015aug_all=0.267572;esp6500siv2_all=0.1587;ExAC_ALL=0.1781;ExAC_AFR=0.2556;ExAC_AMR=0.2533;ExAC_EAS=0.4480;ExAC_FIN=0.1913;ExAC_NFE=0.1075;ExAC_OTH=0.1585;ExAC_SAS=0.2178;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,23:58:99:646,0,1017 1 21896918 rs2275376 G A 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.306;DP=49;ExcessHet=3.0103;FS=4.411;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.092;SOR=1.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.27;1000g2015aug_amr=0.268;1000g2015aug_all=0.26857;esp6500siv2_all=0.1599;ExAC_ALL=0.1756;ExAC_AFR=0.2581;ExAC_AMR=0.2501;ExAC_EAS=0.4404;ExAC_FIN=0.1866;ExAC_NFE=0.1065;ExAC_OTH=0.1574;ExAC_SAS=0.2144;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:681,0,1682 1 21896925 rs2275375 C T 595.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.697;DP=46;ExcessHet=3.0103;FS=4.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.353;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374840.7,ENST00000540617.5,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.3285;1000g2015aug_all=0.323083;esp6500siv2_all=0.2383;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,17:46:99:624,0,1688 1 21897129 rs2275374 T C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000374840.7,ENST00000540617.5,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e217\x3bName\x3e"44992:MIRb(SINE)";avsnp150=rs2275374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.268;1000g2015aug_all=0.268171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:78,0,71 1 21897137 rs2275373 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374840.7,ENST00000540617.5,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e217\x3bName\x3e"44992:MIRb(SINE)";avsnp150=rs2275373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.268;1000g2015aug_all=0.268171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21900112 rs74063110 G A 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.165;DP=68;ExcessHet=3.0103;FS=2.811;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-1.308;SOR=1.216;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374840.7,ENST00000540617.5,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74063110;cosmic70=.;CLNALLELEID=249719;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271765;esp6500siv2_all=0.1572;ExAC_ALL=0.1672;ExAC_AFR=0.2502;ExAC_AMR=0.2365;ExAC_EAS=0.4142;ExAC_FIN=0.1783;ExAC_NFE=0.1031;ExAC_OTH=0.1456;ExAC_SAS=0.2066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,21:68:99:558,0,1520 1 21900146 rs75829132 C G 1497.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.984;DP=103;ExcessHet=3.0103;FS=4.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-2.14;SOR=1.131;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539907.5,ENST00000374840.7,ENST00000540617.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75829132;cosmic70=.;CLNALLELEID=249721;CLNDN=Hypophosphatasia|not_specified;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271765;esp6500siv2_all=0.1484;ExAC_ALL=0.1779;ExAC_AFR=0.2640;ExAC_AMR=0.2449;ExAC_EAS=0.4285;ExAC_FIN=0.1920;ExAC_NFE=0.1103;ExAC_OTH=0.1572;ExAC_SAS=0.2177;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,41:103:99:1526,0,3400 1 21900151 rs74063111 T C 1585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.51;DP=111;ExcessHet=3.0103;FS=3.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.529;SOR=1.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000540617.5,ENST00000374840.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74063111;cosmic70=.;CLNALLELEID=249722;CLNDN=Hypophosphatasia|not_specified;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.236;1000g2015aug_amr=0.2666;1000g2015aug_all=0.257987;esp6500siv2_all=0.1305;ExAC_ALL=0.1721;ExAC_AFR=0.2288;ExAC_AMR=0.2426;ExAC_EAS=0.4291;ExAC_FIN=0.1871;ExAC_NFE=0.1059;ExAC_OTH=0.1561;ExAC_SAS=0.2175;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,44:111:99:1614,0,3458 1 21900171 rs3200255 A G 1415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.054;DP=129;ExcessHet=3.0103;FS=4.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.438;SOR=1.129;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=exonic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALPL:NM_001177520:exon7:c.A645G:p.P215P,ALPL:NM_001127501:exon8:c.A711G:p.P237P,ALPL:NM_000478:exon9:c.A876G:p.P292P;Gencode=Name\x3eENST00000374832.5,ENST00000374840.7,ENST00000540617.5,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3200255;cosmic70=.;CLNALLELEID=249723;CLNDN=Hypophosphatasia|not_specified;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271565;esp6500siv2_all=0.1623;ExAC_ALL=0.1803;ExAC_AFR=0.2668;ExAC_AMR=0.2520;ExAC_EAS=0.4385;ExAC_FIN=0.1944;ExAC_NFE=0.1111;ExAC_OTH=0.1566;ExAC_SAS=0.2180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,56:129:99:1444,0,2012 1 21900396 rs2275372 A C 2427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.831;DP=139;ExcessHet=3.0103;FS=2.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.258;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374840.7,ENST00000540617.5,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,64:139:99:2456,0,3777 1 21900397 rs2275371 G T 2427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.243;DP=138;ExcessHet=3.0103;FS=2.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.415;SOR=0.477;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,63:138:99:2456,0,3777 1 21900420 rs2275370 A G 1366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.723;DP=114;ExcessHet=3.0103;FS=0.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.603;SOR=0.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.8256;1000g2015aug_all=0.753395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,52:114:99:1395,0,1814 1 21900444 rs2275369 A G 1043.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.094;DP=86;ExcessHet=3.0103;FS=1.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.403;SOR=0.915;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000540617.5,ENST00000374840.7,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.2709;1000g2015aug_all=0.271965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,40:86:99:1072,0,1273 1 21900583 rs2275368 A G 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.213;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540617.5,ENST00000374840.7,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.2695;1000g2015aug_all=0.269968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:138,0,751 1 21900589 rs2275367 C T 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-1.041;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540617.5,ENST00000374840.7,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.2622;1000g2015aug_all=0.265575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:138,0,751 1 21902950 rs1780329 C A 2161.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=5.211;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000539907.5,ENST00000374840.7,ENST00000540617.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1780329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.3707;1000g2015aug_amr=0.3184;1000g2015aug_all=0.322684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2190,168,0 1 21903180 rs4654760 C T 1526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.603;DP=129;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.363;SOR=0.8;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=intronic;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540617.5,ENST00000374840.7,ENST00000539907.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654760;cosmic70=.;CLNALLELEID=249725;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.0815;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.2248;1000g2015aug_all=0.179912;esp6500siv2_all=0.0505;ExAC_ALL=0.1240;ExAC_AFR=0.0167;ExAC_AMR=0.2296;ExAC_EAS=0.4573;ExAC_FIN=0.1042;ExAC_NFE=0.0643;ExAC_OTH=0.1031;ExAC_SAS=0.1939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,64:129:99:1555,0,1664 1 21904267 rs1697406 A G 460.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.22;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=UTR3;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=NM_000478:c.*126A>G\x3bNM_001127501:c.*126A>G\x3bNM_001177520:c.*126A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539907.5,ENST00000374840.7,ENST00000540617.5,ENST00000374832.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1697406;cosmic70=.;CLNALLELEID=278910;CLNDN=Hypophosphatasia;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.9078;1000g2015aug_all=0.868211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:489,36,0 1 21904374 rs1772719 A C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALPL;Func=UTR3;Gene=NM_000478,NM_001127501,NM_001177520;GeneDetail=NM_000478:c.*233A>C\x3bNM_001127501:c.*233A>C\x3bNM_001177520:c.*233A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374832.5,ENST00000374840.7,ENST00000540617.5,ENST00000539907.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772719;cosmic70=.;CLNALLELEID=278914;CLNDN=Hypophosphatasia;CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.1311;1000g2015aug_all=0.164537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 21921990 rs829393 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.6398;1000g2015aug_all=0.746006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21921996 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 21925108 rs2794278 T C 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374761.6,ENST00000495204.5,ENST00000374765.8,ENST00000374763.6,ENST00000542643.6,ENST00000290101.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9366;1000g2015aug_all=0.933107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 21925657 rs1681257 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374765.8,ENST00000374763.6,ENST00000542643.6,ENST00000290101.8,ENST00000374761.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e538\x3bName\x3e"45054:L2c(LINE)";avsnp150=rs1681257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9366;1000g2015aug_all=0.935503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 21926187 rs1767445 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374761.6,ENST00000495204.5,ENST00000374765.8,ENST00000374763.6,ENST00000542643.6,ENST00000290101.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1767445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.5189;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.5648;1000g2015aug_all=0.540735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 21929260 rs829368 A G 877.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542643.6,ENST00000374765.8,ENST00000374763.6,ENST00000290101.8,ENST00000495204.5,ENST00000374761.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.9438;1000g2015aug_all=0.932308;esp6500siv2_all=0.9098;ExAC_ALL=0.9109;ExAC_AFR=0.9140;ExAC_AMR=0.9586;ExAC_EAS=0.9716;ExAC_FIN=0.8507;ExAC_NFE=0.8991;ExAC_OTH=0.9026;ExAC_SAS=0.9128;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:906,81,0 1 21932469 rs1273202 G A 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=0.105;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542643.6,ENST00000374763.6,ENST00000374765.8,ENST00000290101.8,ENST00000495204.5,ENST00000374761.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1273202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0308;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0139776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:228,0,95 1 21932530 rs1767443 C A 666.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374761.6,ENST00000495204.5,ENST00000374765.8,ENST00000374763.6,ENST00000542643.6,ENST00000290101.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"45070:G-rich(Low_complexity)";avsnp150=rs1767443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9484;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.8487;1000g2015aug_all=0.796326;esp6500siv2_all=0.7769;ExAC_ALL=0.8275;ExAC_AFR=0.7774;ExAC_AMR=0.9076;ExAC_EAS=0.9711;ExAC_FIN=0.875;ExAC_NFE=0.8384;ExAC_OTH=0.8257;ExAC_SAS=0.7433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:695,60,0 1 21934667 rs829371 G A 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.563;DP=18;ExcessHet=3.0103;FS=1.778;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.978;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542643.6,ENST00000374763.6,ENST00000374765.8,ENST00000290101.8,ENST00000495204.5,ENST00000374761.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.502;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.3401;1000g2015aug_all=0.448482;esp6500siv2_all=0.4982;ExAC_ALL=0.4749;ExAC_AFR=0.4519;ExAC_AMR=0.2957;ExAC_EAS=0.4216;ExAC_FIN=0.5173;ExAC_NFE=0.5194;ExAC_OTH=0.4441;ExAC_SAS=0.4477;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:247,0,166 1 21935433 rs861212 G T 848.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.6;DP=79;ExcessHet=3.0103;FS=1.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.063;SOR=1.004;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495204.5,ENST00000374761.6,ENST00000542643.6,ENST00000374763.6,ENST00000374765.8,ENST00000290101.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs861212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.5101;1000g2015aug_all=0.454673;esp6500siv2_all=0.4153;ExAC_ALL=0.4894;ExAC_AFR=0.2555;ExAC_AMR=0.5855;ExAC_EAS=0.6499;ExAC_FIN=0.4415;ExAC_NFE=0.4847;ExAC_OTH=0.4648;ExAC_SAS=0.5251;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,36:79:99:877,0,1150 1 21937807 rs1256281 C G 818.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=4.003;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495204.5,ENST00000374761.6,ENST00000542643.6,ENST00000374765.8,ENST00000374763.6,ENST00000290101.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1256281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.9971;1000g2015aug_all=0.99361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:847,69,0 1 21938375 rs2275364 T G 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.37;DP=52;ExcessHet=3.0103;FS=10.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.715;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495204.5,ENST00000374761.6,ENST00000290101.8,ENST00000542643.6,ENST00000374765.8,ENST00000374763.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.2478;1000g2015aug_all=0.265974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,20:52:99:579,0,1010 1 21939741 rs1256282 G C 645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.957;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.588;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542643.6,ENST00000374763.6,ENST00000374765.8,ENST00000290101.8,ENST00000495204.5,ENST00000374761.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1256282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.4085;1000g2015aug_amr=0.6484;1000g2015aug_all=0.48103;esp6500siv2_all=0.4278;ExAC_ALL=0.4675;ExAC_AFR=0.4173;ExAC_AMR=0.6822;ExAC_EAS=0.5501;ExAC_FIN=0.3741;ExAC_NFE=0.4338;ExAC_OTH=0.4768;ExAC_SAS=0.4790;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:674,0,728 1 21943820 rs2275360 G A 702.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.628;DP=53;ExcessHet=3.0103;FS=2.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.498;SOR=1.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=exonic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RAP1GAP:NM_001145658:exon7:c.C462T:p.Y154Y,RAP1GAP:NM_002885:exon7:c.C270T:p.Y90Y,RAP1GAP:NM_001145657:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001330383:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001350524:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350525:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350527:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350528:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350526:exon10:c.C270T:p.Y90Y;Gencode=Name\x3eENST00000290101.8,ENST00000374763.6,ENST00000374765.8,ENST00000542643.6,ENST00000374761.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.2495;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.5072;1000g2015aug_all=0.326078;esp6500siv2_all=0.2354;ExAC_ALL=0.4005;ExAC_AFR=0.2616;ExAC_AMR=0.6595;ExAC_EAS=0.6099;ExAC_FIN=0.3966;ExAC_NFE=0.3832;ExAC_OTH=0.3989;ExAC_SAS=0.3050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,27:53:99:731,0,757 1 21944352 rs748488 A G 852.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.223;DP=71;ExcessHet=3.0103;FS=4.962;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.295;SOR=0.3;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000374763.6,ENST00000374765.8,ENST00000542643.6,ENST00000374761.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs748488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.2572;1000g2015aug_amr=0.196;1000g2015aug_all=0.214457;esp6500siv2_all=0.2891;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,32:71:99:881,0,1143 1 21946396 rs12134357 T C 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.691;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.621;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374763.6,ENST00000374765.8,ENST00000542643.6,ENST00000290101.8,ENST00000374761.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3681;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.3357;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:168,0,215 1 21946415 rs1681255 G A 601.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.94;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374765.8,ENST00000374763.6,ENST00000542643.6,ENST00000290101.8,ENST00000374761.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1681255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.5885;1000g2015aug_amr=0.8646;1000g2015aug_all=0.807109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:630,51,0 1 21948936 rs829415 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000542643.6,ENST00000374765.8,ENST00000495204.5,ENST00000374761.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"45099:(GCCCG)n(Simple_repeat)";avsnp150=rs829415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.8746;1000g2015aug_all=0.815096;esp6500siv2_all=.;ExAC_ALL=0;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 21952590 rs10917025 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.368;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495204.5,ENST00000290101.8,ENST00000374765.8,ENST00000542643.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.3415;1000g2015aug_all=0.265176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,102 1 21953138 rs829411 A G 383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.655;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.2;ReadPosRankSum=-0.719;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495204.5,ENST00000290101.8,ENST00000542643.6,ENST00000374765.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.866;1000g2015aug_all=0.734425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:412,0,236 1 21953304 rs1531829 G A 1325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.787;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.156;SOR=0.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000542643.6,ENST00000374765.8,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1531829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.4141;1000g2015aug_eur=0.325;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.4337;1000g2015aug_all=0.387181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,48:92:99:1354,0,1275 1 21953436 rs829412 A G 4747.77 PASS AC=2;AF=1;AN=2;DP=151;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=0.733;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000542643.6,ENST00000374765.8,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e307\x3bName\x3e"45113:MIRb(SINE)";avsnp150=rs829412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.907;1000g2015aug_eur=0.83;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.9092;1000g2015aug_all=0.863818;esp6500siv2_all=.;ExAC_ALL=0.8739;ExAC_AFR=0.7526;ExAC_AMR=0.8883;ExAC_EAS=0.98;ExAC_FIN=0.7778;ExAC_NFE=0.8382;ExAC_OTH=0.9179;ExAC_SAS=0.8971;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,151:151:99:4776,453,0 1 21961091 rs829380 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.559;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.992;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000542643.6,ENST00000374765.8,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.0778;1000g2015aug_all=0.185503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,151 1 21961339 rs10799706 A T 1822.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000374765.8,ENST00000542643.6,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:1851,186,0 1 21975923 rs2035449 G T 468.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001145658,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374765.8,ENST00000542643.6,ENST00000290101.8,ENST00000495204.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e587\x3bName\x3e"45180:MIRb(SINE)";avsnp150=rs2035449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.7556;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.6023;1000g2015aug_all=0.729034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:497,42,0 1 21992600 rs710948 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1GAP;Func=intronic;Gene=NM_001145657,NM_001330383,NM_001350524,NM_001350525,NM_001350526,NM_001350527,NM_001350528,NM_002885;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290101.8,ENST00000542643.6,ENST00000374765.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs710948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.9841;1000g2015aug_all=0.961861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22003793 rs829396 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330383,NM_001330394;GeneDetail=dist\x3e7920\x3bdist\x3e1279;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e267\x3bName\x3e"45248:MER5A1(DNA)";avsnp150=rs829396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.2478;1000g2015aug_all=0.177915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22005665 rs1059218 C T 110.18 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.04;ReadPosRankSum=1.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=UTR3;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=NM_001330394:c.*245G>A\x3bNM_001350164:c.*245G>A\x3bNM_001350166:c.*245G>A\x3bNM_001350167:c.*245G>A\x3bNM_001350168:c.*245G>A\x3bNM_032236:c.*245G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400301.5,ENST00000308271.13,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1059218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.2939;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:10:138,0,10 1 22007443 rs72660363 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374732.7,ENST00000529637.5,ENST00000400301.5,ENST00000308271.13;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72660363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.184;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.0692;1000g2015aug_all=0.090655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22013561 rs829420 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400301.5,ENST00000308271.13,ENST00000529637.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.8343;1000g2015aug_all=0.672125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22013771 rs10493008 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.308;DP=18;ExcessHet=3.0103;FS=2.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=0;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529637.5,ENST00000308271.13,ENST00000400301.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.3374;1000g2015aug_amr=0.6657;1000g2015aug_all=0.478435;esp6500siv2_all=0.4085;ExAC_ALL=0.5060;ExAC_AFR=0.3735;ExAC_AMR=0.7660;ExAC_EAS=0.6832;ExAC_FIN=0.4052;ExAC_NFE=0.4735;ExAC_OTH=0.4691;ExAC_SAS=0.4783;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,4:18:79:79,0,394 1 22016719 rs1618590 T C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374732.7,ENST00000400301.5,ENST00000308271.13,ENST00000529637.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1618590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.9971;1000g2015aug_all=0.977236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 22023983 rs829388 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374732.7,ENST00000308271.13,ENST00000400301.5,ENST00000529637.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2619\x3bName\x3e"45284:AluY(SINE)";avsnp150=rs829388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.9612;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.9337;1000g2015aug_all=0.919529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22029785 rs72660376 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308271.13,ENST00000400301.5,ENST00000529637.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e310\x3bName\x3e"45296:L2a(LINE)";avsnp150=rs72660376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.0677;1000g2015aug_all=0.095647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 22030189 rs829372 T C 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.987;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-1.809;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529637.5,ENST00000308271.13,ENST00000400301.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs829372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.325;1000g2015aug_afr=0.028;1000g2015aug_amr=0.1499;1000g2015aug_all=0.14976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:359,0,200 1 22032570 rs333173 T G 140.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.882;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.87;SOR=1.104;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374732.7,ENST00000308271.13,ENST00000400301.5,ENST00000529637.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs333173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.33;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.1527;1000g2015aug_all=0.146565;esp6500siv2_all=0.2330;ExAC_ALL=0.2394;ExAC_AFR=0.0651;ExAC_AMR=0.1264;ExAC_EAS=0.0137;ExAC_FIN=0.2955;ExAC_NFE=0.3043;ExAC_OTH=0.2897;ExAC_SAS=0.2564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:169,0,412 1 22033228 rs56167338 G A 1017.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.117;DP=78;ExcessHet=3.0103;FS=13.397;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.395;SOR=1.176;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400301.5,ENST00000308271.13,ENST00000529637.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56167338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0908;1000g2015aug_all=0.107029;esp6500siv2_all=0.1559;ExAC_ALL=0.1696;ExAC_AFR=0.0328;ExAC_AMR=0.0798;ExAC_EAS=0.0134;ExAC_FIN=0.2009;ExAC_NFE=0.2083;ExAC_OTH=0.1938;ExAC_SAS=0.2309;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,38:78:99:1046,0,1024 1 22050649 rs2275668 C A 1860.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529637.5,ENST00000308271.13,ENST00000400301.5,ENST00000374732.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.8213;1000g2015aug_all=0.688099;esp6500siv2_all=.;ExAC_ALL=0.7716;ExAC_AFR=0.6496;ExAC_AMR=0.8721;ExAC_EAS=0.7072;ExAC_FIN=0.7732;ExAC_NFE=0.7977;ExAC_OTH=0.7509;ExAC_SAS=0.7474;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.472;phyloP20way_mammalian=0.042;SiPhy_29way_logOdds=8.595;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1889,165,0 1 22063149 rs10753517 G A 1136.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001032730,NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421625.6,ENST00000529637.5,ENST00000400301.5,ENST00000308271.13;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.7421;1000g2015aug_all=0.586062;esp6500siv2_all=0.5804;ExAC_ALL=0.6604;ExAC_AFR=0.4350;ExAC_AMR=0.8271;ExAC_EAS=0.6835;ExAC_FIN=0.5921;ExAC_NFE=0.6682;ExAC_OTH=0.6237;ExAC_SAS=0.6791;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1165,105,0 1 22082923 rs10458384 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP48;Func=intronic;Gene=NM_001032730,NM_001330394,NM_001350164,NM_001350166,NM_001350167,NM_001350168,NM_032236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308271.13,ENST00000400301.5,ENST00000529637.5,ENST00000421625.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2098\x3bName\x3e"45417:AluSx1(SINE)";avsnp150=rs10458384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.8141;1000g2015aug_all=0.672724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 22141206 rs10917051 A C 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.259;DP=49;ExcessHet=3.0103;FS=5.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.63;ReadPosRankSum=-0.385;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAD2;Func=exonic;Gene=NM_001013693;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LDLRAD2:NM_001013693:exon2:c.A401C:p.N134T;Gencode=Name\x3eENST00000344642.6,ENST00000543870.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.7695;1000g2015aug_all=0.612819;esp6500siv2_all=0.6350;ExAC_ALL=0.6910;ExAC_AFR=0.5542;ExAC_AMR=0.8540;ExAC_EAS=0.6905;ExAC_FIN=0.7177;ExAC_NFE=0.7114;ExAC_OTH=0.7313;ExAC_SAS=0.6539;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.104;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=0.8;FATHMM_pred=T;phyloP100way_vertebrate=1.597;phyloP20way_mammalian=-0.481;SiPhy_29way_logOdds=9.710;gerp++gt2=3.9;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,10:49:99:206,0,1063 1 22147739 rs72662414 A C 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.81;DP=36;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.096;SOR=0.267;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAD2;Func=intronic;Gene=NM_001013693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344642.6,ENST00000543870.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e319\x3bName\x3e"45635:MIR(SINE)";avsnp150=rs72662414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.0109;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:492,0,681 1 22149935 rs897467 T C 1260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.973;DP=103;ExcessHet=3.0103;FS=5.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.529;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2,LDLRAD2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S;Gencode=Name\x3eENST00000374695.7,ENST00000543870.1,ENST00000344642.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs897467;cosmic70=.;CLNALLELEID=280437;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.833;1000g2015aug_afr=0.677;1000g2015aug_amr=0.7493;1000g2015aug_all=0.780351;esp6500siv2_all=0.7923;ExAC_ALL=0.8204;ExAC_AFR=0.7297;ExAC_AMR=0.7689;ExAC_EAS=0.8206;ExAC_FIN=0.8281;ExAC_NFE=0.8389;ExAC_OTH=0.8082;ExAC_SAS=0.8304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,41:103:99:1289,0,1812 1 22150257 rs3736357 C T 766.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.072;DP=49;ExcessHet=3.0103;FS=5.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=1.871;SOR=1.703;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAD2,HSPG2;Func=UTR3;Gene=NM_001013693;GeneDetail=NM_001013693:c.*1549C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344642.6,ENST00000543870.1,ENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.4611;1000g2015aug_all=0.3752;esp6500siv2_all=0.3745;ExAC_ALL=0.4593;ExAC_AFR=0.1442;ExAC_AMR=0.5437;ExAC_EAS=0.6513;ExAC_FIN=0.4823;ExAC_NFE=0.4963;ExAC_OTH=0.4931;ExAC_SAS=0.3407;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,25:49:99:795,0,638 1 22155723 rs7518070 T C 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=0.12;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e217\x3bName\x3e"45652:MIRc(SINE)";avsnp150=rs7518070;cosmic70=.;CLNALLELEID=433613;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.7277;1000g2015aug_all=0.763379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 22157689 rs3736355 G A 1124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.085;DP=73;ExcessHet=3.0103;FS=3.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.714;SOR=0.715;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.7277;1000g2015aug_all=0.759185;esp6500siv2_all=0.7698;ExAC_ALL=0.7923;ExAC_AFR=0.6968;ExAC_AMR=0.7461;ExAC_EAS=0.8061;ExAC_FIN=0.8125;ExAC_NFE=0.8073;ExAC_OTH=0.7856;ExAC_SAS=0.8097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,42:72:99:1153,0,761 1 22158363 rs4654771 G A 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.73;DP=19;ExcessHet=3.0103;FS=2.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.185;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.3775;1000g2015aug_all=0.299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:315,0,160 1 22160148 rs7547731 C T 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.271;DP=30;ExcessHet=3.0103;FS=7.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.374;SOR=1.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.4553;1000g2015aug_all=0.375;esp6500siv2_all=0.3742;ExAC_ALL=0.4552;ExAC_AFR=0.1446;ExAC_AMR=0.5390;ExAC_EAS=0.6478;ExAC_FIN=0.4775;ExAC_NFE=0.4902;ExAC_OTH=0.4932;ExAC_SAS=0.3335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:414,0,476 1 22163153 rs12567651 A C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e447\x3bName\x3e"45666:MIRb(SINE)";avsnp150=rs12567651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3373;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.3184;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:78,0,33 1 22168216 rs7556412 C T 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.207;DP=33;ExcessHet=3.0103;FS=5.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.401;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.5836;1000g2015aug_all=0.623802;esp6500siv2_all=0.6071;ExAC_ALL=0.6516;ExAC_AFR=0.5011;ExAC_AMR=0.6314;ExAC_EAS=0.8165;ExAC_FIN=0.7010;ExAC_NFE=0.6644;ExAC_OTH=0.6505;ExAC_SAS=0.6042;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:524,0,452 1 22168968 rs66533518 G A 569.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.485;DP=23;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.77;ReadPosRankSum=1.381;SOR=1.814;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66533518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.3184;1000g2015aug_all=0.208866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,18:23:99:598,0,128 1 22172458 rs7355045 T C 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7355045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.6758;1000g2015aug_all=0.758586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 22174600 rs3767138 A G 975.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.095;DP=60;ExcessHet=3.0103;FS=1.106;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.128;SOR=0.989;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767138;cosmic70=.;CLNALLELEID=280605;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.6664;1000g2015aug_amr=0.6758;1000g2015aug_all=0.761981;esp6500siv2_all=0.7839;ExAC_ALL=0.8116;ExAC_AFR=0.7170;ExAC_AMR=0.7278;ExAC_EAS=0.8316;ExAC_FIN=0.8254;ExAC_NFE=0.8338;ExAC_OTH=0.7881;ExAC_SAS=0.8143;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,36:60:99:1004,0,618 1 22175031 rs6426726 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e265\x3bName\x3e"45690:L2c(LINE)";avsnp150=rs6426726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.33;1000g2015aug_all=0.21905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 22177119 rs61777200 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.253;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61777200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.3761;1000g2015aug_all=0.30611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 22179673 rs12049614 T C 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.764;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.314;SOR=0.155;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12049614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.501;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.4164;1000g2015aug_all=0.377796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:291,0,393 1 22180548 rs12117402 T C 630.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.169;DP=36;ExcessHet=3.0103;FS=1.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=-0.748;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12117402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.6326;1000g2015aug_all=0.676118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:659,0,458 1 22183471 rs12024579 A C 1535.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.166;DP=100;ExcessHet=3.0103;FS=6.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.132;SOR=0.299;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12024579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.6772;1000g2015aug_all=0.749002;esp6500siv2_all=0.7649;ExAC_ALL=0.7910;ExAC_AFR=0.6629;ExAC_AMR=0.7139;ExAC_EAS=0.8154;ExAC_FIN=0.8271;ExAC_NFE=0.8159;ExAC_OTH=0.7819;ExAC_SAS=0.7985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,60:99:99:1564,0,992 1 22183739 rs2305562 A G 1486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.258;DP=132;ExcessHet=3.0103;FS=1.376;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.211;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4653;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.3964;1000g2015aug_amr=0.4553;1000g2015aug_all=0.446885;esp6500siv2_all=0.5085;ExAC_ALL=0.5031;ExAC_AFR=0.4214;ExAC_AMR=0.4920;ExAC_EAS=0.4540;ExAC_FIN=0.5556;ExAC_NFE=0.5481;ExAC_OTH=0.5221;ExAC_SAS=0.3836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,59:131:99:1515,0,2065 1 22186234 rs10917056 A G 2159.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.994;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.9798;1000g2015aug_all=0.929313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2188,177,0 1 22190933 rs12404444 G A 132.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=1.465;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12404444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.174;1000g2015aug_afr=0.056;1000g2015aug_amr=0.2205;1000g2015aug_all=0.101038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:161,0,21 1 22191031 rs897472 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e634\x3bName\x3e"45723:MIRb(SINE)";avsnp150=rs897472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.994;1000g2015aug_afr=0.789;1000g2015aug_amr=0.9784;1000g2015aug_all=0.932907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22191454 rs897471 G A 1263.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs897471;cosmic70=.;CLNALLELEID=275473;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia|not_specified;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8889;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.781;1000g2015aug_all=0.691494;esp6500siv2_all=0.6991;ExAC_ALL=0.7463;ExAC_AFR=0.6525;ExAC_AMR=0.8269;ExAC_EAS=0.9042;ExAC_FIN=0.7712;ExAC_NFE=0.7581;ExAC_OTH=0.7778;ExAC_SAS=0.6023;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.27;FATHMM_pred=T;phyloP100way_vertebrate=4.315;phyloP20way_mammalian=0.998;SiPhy_29way_logOdds=12.819;gerp++gt2=4.37;CADD=3.682;CADD_Phred=23.3;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1292,123,0 1 22192524 rs4654993 A G 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 22199081 rs2501266 A T 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.9942;1000g2015aug_all=0.979832;esp6500siv2_all=0.9827;ExAC_ALL=0.9936;ExAC_AFR=0.9430;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9969;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 22199245 rs2229482 C T 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.489;DP=28;ExcessHet=3.0103;FS=3.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0.804;SOR=1.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon32:c.G3900A:p.V1300V,HSPG2:NM_005529:exon32:c.G3897A:p.V1299V;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229482;cosmic70=.;CLNALLELEID=269992;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia|not_specified;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.2088;1000g2015aug_amr=0.4078;1000g2015aug_all=0.42492;esp6500siv2_all=0.5247;ExAC_ALL=0.6066;ExAC_AFR=0.3382;ExAC_AMR=0.5082;ExAC_EAS=0.5027;ExAC_FIN=0.7106;ExAC_NFE=0.6752;ExAC_OTH=0.6352;ExAC_SAS=0.5410;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:269,0,477 1 22199821 rs2454290 G A 1651.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2454290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.728;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.8674;1000g2015aug_all=0.742013;esp6500siv2_all=0.7333;ExAC_ALL=0.8192;ExAC_AFR=0.4888;ExAC_AMR=0.9240;ExAC_EAS=0.9776;ExAC_FIN=0.8641;ExAC_NFE=0.8483;ExAC_OTH=0.8271;ExAC_SAS=0.7353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1680,146,0 1 22200067 rs2247741 A G 914.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.274;DP=63;ExcessHet=3.0103;FS=2.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.509;SOR=0.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e233\x3bName\x3e"45746:MIR3(SINE)";avsnp150=rs2247741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.5818;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.389;1000g2015aug_all=0.388578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,32:63:99:943,0,821 1 22200082 rs2445136 T C 1924.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e233\x3bName\x3e"45746:MIR3(SINE)";avsnp150=rs2445136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.9942;1000g2015aug_all=0.977636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1953,165,0 1 22200835 rs2445135 C G 676.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2445135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:705,63,0 1 22201331 rs2290494 C T 1835.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.797;DP=145;ExcessHet=3.0103;FS=7.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.038;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2290494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.4164;1000g2015aug_all=0.30012;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,64:145:99:1864,0,2354 1 22202109 rs2501265 C T 1069.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=3.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e270\x3bName\x3e"45750:MIRb(SINE)";avsnp150=rs2501265;cosmic70=.;CLNALLELEID=279443;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.9784;1000g2015aug_all=0.942292;esp6500siv2_all=0.9409;ExAC_ALL=0.9837;ExAC_AFR=0.8242;ExAC_AMR=0.9922;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9992;ExAC_OTH=0.9934;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1098,90,0 1 22203259 rs2454295 A G 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.726;DP=36;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=0.064;SOR=0.084;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2454295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.4236;1000g2015aug_all=0.451677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,21:36:99:666,0,499 1 22204630 rs7513608 G A 462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.724;DP=27;ExcessHet=3.0103;FS=1.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.656;SOR=1.248;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.227;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.4135;1000g2015aug_all=0.309704;esp6500siv2_all=0.1925;ExAC_ALL=0.2667;ExAC_AFR=0.1647;ExAC_AMR=0.4426;ExAC_EAS=0.5844;ExAC_FIN=0.2136;ExAC_NFE=0.2143;ExAC_OTH=0.2768;ExAC_SAS=0.2668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:491,0,394 1 22205408 rs2454294 T C 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e344\x3bName\x3e"45757:MIR3(SINE)";avsnp150=rs2454294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.9928;1000g2015aug_all=0.973642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 22205466 rs2454293 T C 692.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2454293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.9899;1000g2015aug_all=0.959465;esp6500siv2_all=0.9618;ExAC_ALL=0.9878;ExAC_AFR=0.8784;ExAC_AMR=0.9937;ExAC_EAS=0.9974;ExAC_FIN=0.9994;ExAC_NFE=0.9982;ExAC_OTH=0.9932;ExAC_SAS=0.9974;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:721,63,0 1 22206138 rs2445137 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e870\x3bName\x3e"45758:L3(LINE)";avsnp150=rs2445137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.9784;1000g2015aug_all=0.929912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 22206249 rs2244426 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2352\x3bName\x3e"45759:AluSz(SINE)";avsnp150=rs2244426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.9784;1000g2015aug_all=0.929912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22206649 rs989994 T C 4365.77 PASS AC=2;AF=1;AN=2;DP=129;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=1.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs989994;cosmic70=.;CLNALLELEID=280764;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.9784;1000g2015aug_all=0.929912;esp6500siv2_all=0.9352;ExAC_ALL=0.9811;ExAC_AFR=0.7916;ExAC_AMR=0.9923;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9868;ExAC_SAS=0.9997;SIFT_score=0.246;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=1.425;MutationAssessor_pred=L;FATHMM_score=0.11;FATHMM_pred=T;phyloP100way_vertebrate=0.800;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=13.348;gerp++gt2=5.38;CADD=2.117;CADD_Phred=16.97;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,129:129:99:4394,387,0 1 22206942 rs1874793 G A 2483.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1874793;cosmic70=.;CLNALLELEID=280765;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.9784;1000g2015aug_all=0.929912;esp6500siv2_all=0.9352;ExAC_ALL=0.9812;ExAC_AFR=0.7924;ExAC_AMR=0.9923;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9867;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2512,219,0 1 22207235 rs1874792 T C 1092.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1874792;cosmic70=.;CLNALLELEID=279454;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.9928;1000g2015aug_all=0.973642;esp6500siv2_all=0.9757;ExAC_ALL=0.9931;ExAC_AFR=0.9216;ExAC_AMR=0.9971;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9985;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.062;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.085;MutationAssessor_pred=N;FATHMM_score=1.34;FATHMM_pred=T;phyloP100way_vertebrate=1.148;phyloP20way_mammalian=-0.425;SiPhy_29way_logOdds=7.569;gerp++gt2=3.56;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1121,111,0 1 22208030 rs921847 C T 640.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs921847;cosmic70=.;CLNALLELEID=433614;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9891;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.9769;1000g2015aug_all=0.925919;esp6500siv2_all=0.9269;ExAC_ALL=0.9688;ExAC_AFR=0.7978;ExAC_AMR=0.9877;ExAC_EAS=1;ExAC_FIN=0.9718;ExAC_NFE=0.9848;ExAC_OTH=0.9722;ExAC_SAS=0.9806;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:669,63,0 1 22211217 rs2290493 G A 1236.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.308;DP=96;ExcessHet=3.0103;FS=5.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=2.111;SOR=0.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2290493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.4135;1000g2015aug_all=0.310703;esp6500siv2_all=0.1890;ExAC_ALL=0.2763;ExAC_AFR=0.1720;ExAC_AMR=0.4548;ExAC_EAS=0.5992;ExAC_FIN=0.2187;ExAC_NFE=0.2228;ExAC_OTH=0.2686;ExAC_SAS=0.2663;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,51:96:99:1265,0,1353 1 22211222 rs4654994 T C 4031.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9583;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.826;1000g2015aug_amr=0.9092;1000g2015aug_all=0.896366;esp6500siv2_all=0.9065;ExAC_ALL=0.9126;ExAC_AFR=0.8516;ExAC_AMR=0.8739;ExAC_EAS=0.9639;ExAC_FIN=0.9131;ExAC_NFE=0.9266;ExAC_OTH=0.9185;ExAC_SAS=0.8951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:4060,298,0 1 22214127 rs2229478 A G 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.025;DP=59;ExcessHet=3.0103;FS=2.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.419;SOR=0.588;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229478;cosmic70=.;CLNALLELEID=279469;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.5793;1000g2015aug_all=0.536342;esp6500siv2_all=0.4273;ExAC_ALL=0.4175;ExAC_AFR=0.6406;ExAC_AMR=0.5977;ExAC_EAS=0.6264;ExAC_FIN=0.3508;ExAC_NFE=0.3354;ExAC_OTH=0.4011;ExAC_SAS=0.4014;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.682;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.45;FATHMM_pred=T;phyloP100way_vertebrate=-1.838;phyloP20way_mammalian=-0.948;SiPhy_29way_logOdds=0.623;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,25:59:99:663,0,868 1 22214645 rs3767140 C A 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.139;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=1.349;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.4251;1000g2015aug_all=0.342053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,272 1 22215088 rs2445140 T C 408.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e992\x3bName\x3e"45777:FLAM_C(SINE)";avsnp150=rs2445140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.9942;1000g2015aug_all=0.979233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:437,39,0 1 22216279 rs3767141 C T 1088.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.324;SOR=0.597;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=intronic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3681;1000g2015aug_sas=0.271;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.4496;1000g2015aug_all=0.28774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,43:86:99:1117,0,1151 1 22216574 rs2254358 C A 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.377;DP=40;ExcessHet=3.0103;FS=2.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.356;SOR=0.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon6:c.G474T:p.G158G,HSPG2:NM_005529:exon6:c.G474T:p.G158G;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254358;cosmic70=.;CLNALLELEID=280779;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.4164;1000g2015aug_all=0.444489;esp6500siv2_all=0.5503;ExAC_ALL=0.5769;ExAC_AFR=0.2937;ExAC_AMR=0.3974;ExAC_EAS=0.3736;ExAC_FIN=0.6489;ExAC_NFE=0.6655;ExAC_OTH=0.5960;ExAC_SAS=0.6000;SIFT_score=0.183;SIFT_pred=T;Polyphen2_HDIV_score=0.617;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.226;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.39;FATHMM_pred=T;phyloP100way_vertebrate=-0.592;phyloP20way_mammalian=-0.351;SiPhy_29way_logOdds=3.784;gerp++gt2=.;CADD=1.249;CADD_Phred=12.00;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:690,0,419 1 22216604 rs2254357 C G 583.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.249;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.425;SOR=0.52;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254357;cosmic70=.;CLNALLELEID=280780;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.4164;1000g2015aug_all=0.444489;esp6500siv2_all=0.5504;ExAC_ALL=0.5770;ExAC_AFR=0.2937;ExAC_AMR=0.3976;ExAC_EAS=0.3732;ExAC_FIN=0.6487;ExAC_NFE=0.6657;ExAC_OTH=0.5960;ExAC_SAS=0.6000;SIFT_score=0.243;SIFT_pred=T;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.509;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.56;FATHMM_pred=T;phyloP100way_vertebrate=1.139;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=14.050;gerp++gt2=4.5;CADD=1.275;CADD_Phred=12.14;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,20:29:99:612,0,221 1 22217108 rs2501260 G A 2941.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPG2;Func=exonic;Gene=NM_001291860,NM_005529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F;Gencode=Name\x3eENST00000374695.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501260;cosmic70=.;CLNALLELEID=280781;CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.9798;1000g2015aug_all=0.948083;esp6500siv2_all=0.9538;ExAC_ALL=0.9861;ExAC_AFR=0.8475;ExAC_AMR=0.9944;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9879;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2970,270,0 1 22281664 rs10917072 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e17874\x3bdist\x3e21723;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.59;1000g2015aug_amr=0.8401;1000g2015aug_all=0.772764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 22281690 rs10917073 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e17900\x3bdist\x3e21697;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.8401;1000g2015aug_all=0.773363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 22281718 rs12140171 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e17928\x3bdist\x3e21669;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.59;1000g2015aug_amr=0.8401;1000g2015aug_all=0.772764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22281759 rs10917074 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e17969\x3bdist\x3e21628;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.8401;1000g2015aug_all=0.772165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22284708 rs6681966 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e20918\x3bdist\x3e18679;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.9683;1000g2015aug_all=0.920927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22299523 rs4466619 T G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.31;QD=36.58;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e35733\x3bdist\x3e3864;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2581\x3bName\x3e"46000:LTR24C(LTR)";avsnp150=rs4466619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.8646;1000g2015aug_all=0.66254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 22299656 rs4233282 T G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.89;DP=29;ExcessHet=3.0103;FS=7.367;MLEAC=1;MLEAF=0.5;MQ=59.03;MQRankSum=0.256;QD=14.37;ReadPosRankSum=-0.154;SOR=0.09;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e35866\x3bdist\x3e3731;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2581\x3bName\x3e"46000:LTR24C(LTR)";avsnp150=rs4233282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.3703;1000g2015aug_all=0.328474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:445,0,422 1 22299854 rs67058297 C T 982.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.936;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.25;MQRankSum=-1.695;QD=14.45;ReadPosRankSum=0.773;SOR=0.837;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e36064\x3bdist\x3e3533;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e431\x3bName\x3e"46001:MER103C(DNA)";avsnp150=rs67058297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.4121;1000g2015aug_all=0.236422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,34:68:99:1011,0,867 1 22299966 rs4233283 C A 57.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=-0.676;SOR=0.124;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005529,NM_007352;GeneDetail=dist\x3e36176\x3bdist\x3e3421;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e408\x3bName\x3e"46002:L2a(LINE)";avsnp150=rs4233283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.0968;1000g2015aug_amr=0.3775;1000g2015aug_all=0.340655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,3:13:86:86,0,376 1 22303702 rs4415533 C A 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.149;DP=40;ExcessHet=3.0103;FS=9.201;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.668;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs4415533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.5288;1000g2015aug_all=0.438698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:515,0,506 1 22304272 rs57648880 G T 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.82;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e1540\x3bName\x3e"46017:AluJo(SINE)";avsnp150=rs57648880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.4352;1000g2015aug_all=0.446286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 22304585 rs12059804 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.81;QD=23.28;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e265\x3bName\x3e"46019:MIR(SINE)";avsnp150=rs12059804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.5793;1000g2015aug_all=0.486222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 22304712 rs10917088 A G 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=55.89;MQRankSum=-1.55;QD=15.48;ReadPosRankSum=1.254;SOR=0.02;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e374\x3bName\x3e"46020:MIR3(SINE)";avsnp150=rs10917088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.4899;1000g2015aug_all=0.535942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,215 1 22307358 rs7528300 C G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.24;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon3:c.C171G:p.T57T;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs7528300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.9366;1000g2015aug_all=0.847644;esp6500siv2_all=.;ExAC_ALL=0.9261;ExAC_AFR=0.6963;ExAC_AMR=0.9229;ExAC_EAS=0.7188;ExAC_FIN=0.9869;ExAC_NFE=0.9720;ExAC_OTH=0.9345;ExAC_SAS=0.9603;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 22307538 rs7528405 C T 270.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.62;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CELA3B:NM_007352:exon4:c.C235T:p.R79W;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs7528405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.992;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9625;1000g2015aug_all=0.893371;esp6500siv2_all=0.9463;ExAC_ALL=0.9555;ExAC_AFR=0.8584;ExAC_AMR=0.9437;ExAC_EAS=0.7490;ExAC_FIN=0.9991;ExAC_NFE=0.9922;ExAC_OTH=0.9659;ExAC_SAS=0.9672;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.962;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.598;Polyphen2_HVAR_pred=P;LRT_score=0.718;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-2.49;FATHMM_pred=D;phyloP100way_vertebrate=-0.489;phyloP20way_mammalian=0.022;SiPhy_29way_logOdds=1.847;gerp++gt2=.;CADD=1.946;CADD_Phred=15.87;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:299,33,0 1 22309874 rs6698785 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs6698785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.767;1000g2015aug_amr=0.9424;1000g2015aug_all=0.865615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 22310080 rs10799723 G A 925.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.01;QD=27.72;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs10799723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.992;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.9539;1000g2015aug_all=0.879393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:954,69,0 1 22310139 rs10733031 T G 2391.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.944;DP=53;ExcessHet=3.0103;FS=5.482;MLEAC=2;MLEAF=1;MQ=54.9;MQRankSum=2.053;QD=32.22;ReadPosRankSum=1.406;SOR=1.947;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs10733031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.8912;ExAC_AFR=0.7280;ExAC_AMR=0.9101;ExAC_EAS=0.7377;ExAC_FIN=0.8914;ExAC_NFE=0.9251;ExAC_OTH=0.8967;ExAC_SAS=0.9322;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,52:53:99:2420,124,0 1 22310145 rs10733032 C T 2391.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.949;DP=56;ExcessHet=3.0103;FS=5.721;MLEAC=2;MLEAF=1;MQ=54.51;MQRankSum=1.981;QD=29.51;ReadPosRankSum=1.052;SOR=2.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs10733032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.9366;1000g2015aug_all=0.847843;esp6500siv2_all=.;ExAC_ALL=0.8911;ExAC_AFR=0.7276;ExAC_AMR=0.9102;ExAC_EAS=0.7379;ExAC_FIN=0.8915;ExAC_NFE=0.9250;ExAC_OTH=0.8981;ExAC_SAS=0.9323;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,55:56:99:2420,124,0 1 22310262 rs10733033 G C 4578.77 PASS AC=2;AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.03;QD=32.24;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon5:c.G438C:p.P146P;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs10733033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.992;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.9539;1000g2015aug_all=0.879393;esp6500siv2_all=0.9287;ExAC_ALL=0.9506;ExAC_AFR=0.8144;ExAC_AMR=0.9400;ExAC_EAS=0.7473;ExAC_FIN=0.9991;ExAC_NFE=0.9913;ExAC_OTH=0.9604;ExAC_SAS=0.9662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,142:142:99:4607,426,0 1 22310410 rs541678103 C T 867.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.859;DP=77;ExcessHet=3.0103;FS=3.434;MLEAC=1;MLEAF=0.5;MQ=52.07;MQRankSum=0.577;QD=11.27;ReadPosRankSum=0.231;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs541678103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,34:77:99:896,0,1242 1 22310411 rs28468423 A G 3373.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.05;QD=37.62;SOR=1.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs28468423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.8689;1000g2015aug_all=0.812101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:3402,232,0 1 22310413 rs7549398 A G 3373.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.95;QD=28.81;SOR=2.062;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs7549398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.839;1000g2015aug_afr=0.503;1000g2015aug_amr=0.8329;1000g2015aug_all=0.739417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:3402,232,0 1 22310662 rs6426735 G T 1096.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.12;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs6426735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.9251;1000g2015aug_all=0.840455;esp6500siv2_all=0.8789;ExAC_ALL=0.9099;ExAC_AFR=0.7433;ExAC_AMR=0.9215;ExAC_EAS=0.7476;ExAC_FIN=0.9311;ExAC_NFE=0.9435;ExAC_OTH=0.9099;ExAC_SAS=0.9493;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1125,117,0 1 22310674 rs7538207 C T 1107.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs7538207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.9366;1000g2015aug_all=0.849241;esp6500siv2_all=0.9017;ExAC_ALL=0.9333;ExAC_AFR=0.7471;ExAC_AMR=0.9310;ExAC_EAS=0.7486;ExAC_FIN=0.9890;ExAC_NFE=0.9746;ExAC_OTH=0.9424;ExAC_SAS=0.9603;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1136,111,0 1 22310701 rs142354011 C T 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.94;DP=35;ExcessHet=3.0103;FS=1.344;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.58;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon6:c.C519T:p.D173D;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs142354011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0169;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00439297;esp6500siv2_all=0.0088;ExAC_ALL=0.0118;ExAC_AFR=0.0023;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0493;ExAC_NFE=0.0149;ExAC_OTH=0.0211;ExAC_SAS=0.0009;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,16:35:99:344,0,482 1 22310725 rs3820287 G C 933.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon6:c.G543C:p.P181P;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs3820287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.8794;ExAC_ALL=0.9105;ExAC_AFR=0.7430;ExAC_AMR=0.9219;ExAC_EAS=0.7487;ExAC_FIN=0.9311;ExAC_NFE=0.9437;ExAC_OTH=0.9084;ExAC_SAS=0.9502;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:962,96,0 1 22310824 rs1803531 T C 178.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.8;QD=27.86;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon6:c.T642C:p.N214N;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs1803531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.992;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.9625;1000g2015aug_all=0.893171;esp6500siv2_all=0.9463;ExAC_ALL=0.9554;ExAC_AFR=0.8582;ExAC_AMR=0.9437;ExAC_EAS=0.7487;ExAC_FIN=0.9991;ExAC_NFE=0.9921;ExAC_OTH=0.9658;ExAC_SAS=0.9667;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:207,15,0 1 22312755 rs10917099 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2016\x3bName\x3e"46049:AluSx1(SINE)";avsnp150=rs10917099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.928;1000g2015aug_all=0.857428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 22312823 rs12121096 A T 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=1.803;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2016\x3bName\x3e"46049:AluSx1(SINE)";avsnp150=rs12121096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.4078;1000g2015aug_all=0.444888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:66:212,0,66 1 22313017 rs61777963 G T 1538.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.089;DP=110;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.911;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs61777963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1409;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.1282;1000g2015aug_all=0.121206;esp6500siv2_all=0.1422;ExAC_ALL=0.1493;ExAC_AFR=0.0943;ExAC_AMR=0.1346;ExAC_EAS=0.1628;ExAC_FIN=0.2651;ExAC_NFE=0.1682;ExAC_OTH=0.1571;ExAC_SAS=0.0639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,59:110:99:1567,0,1304 1 22313161 rs1803530 T C 3026.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.47;QD=32.2;SOR=1.464;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=exonic;Gene=NM_007352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3B:NM_007352:exon7:c.T780C:p.I260I;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs1803530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7629;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.992;1000g2015aug_afr=0.792;1000g2015aug_amr=0.9496;1000g2015aug_all=0.880791;esp6500siv2_all=0.9284;ExAC_ALL=0.9510;ExAC_AFR=0.8078;ExAC_AMR=0.9393;ExAC_EAS=0.7505;ExAC_FIN=0.9991;ExAC_NFE=0.9915;ExAC_OTH=0.9570;ExAC_SAS=0.9710;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3055,281,0 1 22313197 rs34963341 C A 1055.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.438;DP=63;ExcessHet=3.0103;FS=2.484;MLEAC=1;MLEAF=0.5;MQ=54.16;MQRankSum=-0.247;QD=16.76;ReadPosRankSum=0.757;SOR=0.403;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs34963341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.6437;1000g2015aug_amr=0.5274;1000g2015aug_all=0.61222;esp6500siv2_all=0.7106;ExAC_ALL=0.6759;ExAC_AFR=0.6589;ExAC_AMR=0.4587;ExAC_EAS=0.3718;ExAC_FIN=0.7417;ExAC_NFE=0.7376;ExAC_OTH=0.6842;ExAC_SAS=0.7212;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,40:63:99:1084,0,624 1 22313469 rs3806296 G C 1175.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.128;DP=80;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=41.43;MQRankSum=0.508;QD=14.7;ReadPosRankSum=-1.107;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs3806296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.363;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.5817;1000g2015aug_amr=0.5447;1000g2015aug_all=0.490216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,39:80:99:1204,0,1331 1 22313521 rs71638814 G T 1616.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.432;DP=126;ExcessHet=3.0103;FS=1.439;MLEAC=1;MLEAF=0.5;MQ=50.88;MQRankSum=1.011;QD=12.83;ReadPosRankSum=0.912;SOR=0.53;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=.;avsnp150=rs71638814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.4092;1000g2015aug_all=0.223043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,69:126:99:1645,0,1351 1 22313689 rs6426736 A T 553.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2306\x3bName\x3e"46052:AluSg7(SINE)";avsnp150=rs6426736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.7572;1000g2015aug_amr=0.9251;1000g2015aug_all=0.853235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:582,42,0 1 22313920 rs7516572 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.68;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e2306\x3bName\x3e"46052:AluSg7(SINE)";avsnp150=rs7516572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.9323;1000g2015aug_all=0.845647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22315662 rs12082371 C T 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=44.98;MQRankSum=-2.369;QD=10.35;ReadPosRankSum=1.292;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e647\x3bName\x3e"46060:MIR(SINE)";avsnp150=rs12082371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.3256;1000g2015aug_all=0.277955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:111,0,201 1 22315666 rs55665598 G A 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=44.98;MQRankSum=-2.369;QD=10.35;ReadPosRankSum=1.93;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3B;Func=intronic;Gene=NM_007352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337107.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21993019;Repeat=Score\x3e647\x3bName\x3e"46060:MIR(SINE)";avsnp150=rs55665598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2896;1000g2015aug_all=0.174121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:111,0,201 1 22324705 rs7534936 T C 1446.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.131;DP=129;ExcessHet=3.0103;FS=1.405;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.014;SOR=0.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_007352,NM_005747;GeneDetail=dist\x3e8858\x3bdist\x3e3444;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e456\x3bName\x3e"46095:MER103C(DNA)";avsnp150=rs7534936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6597;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.5677;1000g2015aug_all=0.540335;esp6500siv2_all=.;ExAC_ALL=0.4195;ExAC_AFR=0.6827;ExAC_AMR=0.5161;ExAC_EAS=0.6551;ExAC_FIN=0.4509;ExAC_NFE=0.3403;ExAC_OTH=0.4019;ExAC_SAS=0.4190;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,61:129:99:1475,0,1687 1 22324930 rs12032777 A T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.03;MQRankSum=-0.524;QD=16.35;ReadPosRankSum=0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_007352,NM_005747;GeneDetail=dist\x3e9083\x3bdist\x3e3219;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs12032777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.227;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.4107;1000g2015aug_all=0.229233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 22328279 rs12751986 C T 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.749;DP=52;ExcessHet=3.0103;FS=2.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.037;SOR=0.376;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs12751986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3978;1000g2015aug_sas=0.227;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.4107;1000g2015aug_all=0.229233;esp6500siv2_all=0.1714;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:562,0,797 1 22329062 rs143337942 C G 4607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.913;DP=274;ExcessHet=3.0103;FS=5.779;MLEAC=1;MLEAF=0.5;MQ=46.14;MQRankSum=-13.556;QD=16.82;ReadPosRankSum=0.843;SOR=1.052;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374663.1,ENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e1394\x3bName\x3e"46110:AluJo(SINE)";avsnp150=rs143337942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.3487;1000g2015aug_all=0.301518;esp6500siv2_all=.;ExAC_ALL=0.4929;ExAC_AFR=0.4504;ExAC_AMR=0.5;ExAC_EAS=0.4588;ExAC_FIN=0.5;ExAC_NFE=0.4960;ExAC_OTH=0.4615;ExAC_SAS=0.4957;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:153,121:274:99:4636,0,8644 1 22329063 rs150897434 C T 4607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.773;DP=277;ExcessHet=3.0103;FS=4.861;MLEAC=1;MLEAF=0.5;MQ=46.22;MQRankSum=-13.564;QD=16.63;ReadPosRankSum=0.996;SOR=1.018;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e1394\x3bName\x3e"46110:AluJo(SINE)";avsnp150=rs150897434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.3487;1000g2015aug_all=0.301518;esp6500siv2_all=.;ExAC_ALL=0.4930;ExAC_AFR=0.4504;ExAC_AMR=0.5;ExAC_EAS=0.4588;ExAC_FIN=0.5;ExAC_NFE=0.4960;ExAC_OTH=0.4615;ExAC_SAS=0.4958;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:156,121:277:99:4636,0,8644 1 22329220 rs55638883 G A 1614.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.43;DP=412;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.14;MQRankSum=2.282;QD=3.92;ReadPosRankSum=-0.999;SOR=0.705;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e395\x3bName\x3e"46111:MIR3(SINE)";avsnp150=rs55638883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:317,95:412:99:1643,0,8887 1 22329346 rs200212152 G A 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.493;DP=68;ExcessHet=3.0103;FS=5.282;MLEAC=1;MLEAF=0.5;MQ=54.56;MQRankSum=-2.073;QD=9.75;ReadPosRankSum=-0.21;SOR=2.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e395\x3bName\x3e"46111:MIR3(SINE)";avsnp150=rs200212152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,22:68:99:691,0,1614 1 22329407 rs12756442 G C 438.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.106;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=56.06;MQRankSum=-3.679;QD=14.63;ReadPosRankSum=1.519;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e395\x3bName\x3e"46111:MIR3(SINE)";avsnp150=rs12756442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.4611;1000g2015aug_all=0.322484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:467,0,621 1 22329414 rs10917107 G A 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.883;DP=29;ExcessHet=3.0103;FS=1.483;MLEAC=1;MLEAF=0.5;MQ=56.54;MQRankSum=3.605;QD=16.2;ReadPosRankSum=-1.097;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7,ENST00000374663.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e395\x3bName\x3e"46111:MIR3(SINE)";avsnp150=rs10917107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.121;1000g2015aug_amr=0.4193;1000g2015aug_all=0.374201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:498,0,537 1 22329645 rs4543768 T C 471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.651;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.08;MQRankSum=-2.86;QD=15.73;ReadPosRankSum=-0.042;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374663.1,ENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs4543768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.5605;1000g2015aug_all=0.526757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:500,0,434 1 22329732 rs41302021 G A 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.949;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.25;MQRankSum=-0.914;QD=16.58;ReadPosRankSum=0.803;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374663.1,ENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs41302021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5417;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.4841;1000g2015aug_all=0.355032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:277,0,198 1 22333228 rs55724481 A G 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.67;MQRankSum=-2.968;QD=14.27;ReadPosRankSum=1.337;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e29\x3bName\x3e"46125:(AAT)n(Simple_repeat)";avsnp150=rs55724481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3271;1000g2015aug_all=0.341853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:228,0,318 1 22333231 rs61778020 A G 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.96;MQRankSum=-3.091;QD=13.12;ReadPosRankSum=1.583;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e29\x3bName\x3e"46125:(AAT)n(Simple_repeat)";avsnp150=rs61778020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.33;1000g2015aug_all=0.351438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:225,0,360 1 22333234 rs7543775 A G 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.904;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.23;MQRankSum=-3.231;QD=12.11;ReadPosRankSum=1.845;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e29\x3bName\x3e"46125:(AAT)n(Simple_repeat)";avsnp150=rs7543775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1647;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.673;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.3487;1000g2015aug_all=0.366613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:222,0,395 1 22333595 rs3820290 G A 1226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.312;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.7;MQRankSum=-5.686;QD=13.94;ReadPosRankSum=0;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs3820290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.665;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.3545;1000g2015aug_all=0.405751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,50:88:99:1255,0,916 1 22333688 rs3820289 T C 309.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=25;ExcessHet=3.0103;FS=4.008;MLEAC=1;MLEAF=0.5;MQ=59.21;MQRankSum=0.566;QD=12.39;ReadPosRankSum=0.863;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e207\x3bName\x3e"46126:L2c(LINE)";avsnp150=rs3820289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.389;1000g2015aug_all=0.21845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:338,0,551 1 22334117 rs35519693 C G 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.76;MQRankSum=-0.944;QD=15.08;ReadPosRankSum=1.333;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs35519693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.4251;1000g2015aug_all=0.275958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,145 1 22335964 rs35025763 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=Score\x3e2035\x3bName\x3e"46134:AluSx1(SINE)";avsnp150=rs35025763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.389;1000g2015aug_all=0.218051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22336120 rs4344303 T C 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.243;DP=56;ExcessHet=3.0103;FS=1.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.041;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs4344303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.4078;1000g2015aug_all=0.280751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:626,0,830 1 22336277 rs3820285 C G 3113.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=exonic;Gene=NM_005747;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CELA3A:NM_005747:exon7:c.C722G:p.A241G;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs3820285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.953;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.902;1000g2015aug_all=0.895767;esp6500siv2_all=0.9572;ExAC_ALL=0.9449;ExAC_AFR=0.9252;ExAC_AMR=0.8616;ExAC_EAS=0.7543;ExAC_FIN=0.9779;ExAC_NFE=0.9784;ExAC_OTH=0.9515;ExAC_SAS=0.9657;SIFT_score=0.47;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.87;MutationAssessor_pred=N;FATHMM_score=2.27;FATHMM_pred=T;phyloP100way_vertebrate=-0.043;phyloP20way_mammalian=-0.545;SiPhy_29way_logOdds=11.399;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3142,300,0 1 22336305 rs9187 C T 1468.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.547;DP=97;ExcessHet=3.0103;FS=3.993;MLEAC=1;MLEAF=0.5;MQ=59.49;MQRankSum=-0.357;QD=15.46;ReadPosRankSum=0.222;SOR=1.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=exonic;Gene=NM_005747;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3A:NM_005747:exon7:c.C750T:p.P250P;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs9187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.4107;1000g2015aug_all=0.286542;esp6500siv2_all=0.2390;ExAC_ALL=0.2423;ExAC_AFR=0.2337;ExAC_AMR=0.3886;ExAC_EAS=0.3328;ExAC_FIN=0.2192;ExAC_NFE=0.2122;ExAC_OTH=0.2331;ExAC_SAS=0.2321;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,40:95:99:1497,0,2191 1 22336308 rs12908 G A 1468.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.152;DP=97;ExcessHet=3.0103;FS=2.799;MLEAC=1;MLEAF=0.5;MQ=59.38;MQRankSum=0.049;QD=15.46;ReadPosRankSum=0.305;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=exonic;Gene=NM_005747;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELA3A:NM_005747:exon7:c.G753A:p.T251T;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs12908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.4078;1000g2015aug_all=0.285543;esp6500siv2_all=0.2367;ExAC_ALL=0.2425;ExAC_AFR=0.2341;ExAC_AMR=0.3896;ExAC_EAS=0.3338;ExAC_FIN=0.2190;ExAC_NFE=0.2122;ExAC_OTH=0.2331;ExAC_SAS=0.2321;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,40:95:99:1497,0,2191 1 22336371 rs3806297 C A 796.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.794;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.37;MQRankSum=0.378;QD=15.94;ReadPosRankSum=0.499;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELA3A;Func=intronic;Gene=NM_005747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290122.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=Score\x3e0.966173\x3bName\x3echr1:21967354;Repeat=.;avsnp150=rs3806297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.635;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.4395;1000g2015aug_all=0.508786;esp6500siv2_all=0.6315;ExAC_ALL=0.6257;ExAC_AFR=0.5309;ExAC_AMR=0.3960;ExAC_EAS=0.3045;ExAC_FIN=0.6984;ExAC_NFE=0.7091;ExAC_OTH=0.6364;ExAC_SAS=0.6366;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,28:50:99:825,0,662 1 22355578 rs12116952 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00339;Func=ncRNA_intronic;Gene=NR_023918,NR_023919,NR_109759,NR_109760,NR_109761,NR_109762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2528\x3bName\x3e"46202:AluSp(SINE)";avsnp150=rs12116952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.7522;1000g2015aug_all=0.825879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22386064 rs35371979 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42;Func=intronic;Gene=NM_001039802,NM_001791,NM_044472;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400259.5,ENST00000315554.12,ENST00000431803.2,ENST00000344548.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2343\x3bName\x3e"46285:AluSx(SINE)";avsnp150=rs35371979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9741;1000g2015aug_all=0.971645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 22408106 rs2501282 G A 911.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.47;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-1.127;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42;Func=intronic;Gene=NM_001039802,NM_001791,NM_044472;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400259.5,ENST00000315554.12,ENST00000344548.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9741;1000g2015aug_all=0.971645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,40:85:99:940,0,1182 1 22447148 rs12756110 G C 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.153;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.033;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT4;Func=intronic;Gene=NM_030761;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290167.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9669;1000g2015aug_all=0.963059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:283,0,401 1 22450471 rs9919225 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT4;Func=intronic;Gene=NM_030761;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290167.10;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e382\x3bName\x3e"46401:L3b(LINE)";avsnp150=rs9919225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9669;1000g2015aug_all=0.963658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22543492 rs2473265 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030761,NR_039613;GeneDetail=dist\x3e73973\x3bdist\x3e49240;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e980\x3bName\x3e"46642:MLT1E2(LTR)";avsnp150=rs2473265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.4294;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 22649487 rs11580218 G T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.816;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039613,NM_014870;GeneDetail=dist\x3e56694\x3bdist\x3e128857;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.3707;1000g2015aug_amr=0.0735;1000g2015aug_all=0.125998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,109 1 22728116 rs11580257 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039613,NM_014870;GeneDetail=dist\x3e135323\x3bdist\x3e50228;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.2507;1000g2015aug_all=0.28155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 22816233 rs10799756 C T 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.623;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.963;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374651.8,ENST00000404138.5,ENST00000375647.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3978;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.5677;1000g2015aug_all=0.417732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,277 1 22816262 rs1267005 T C 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.148;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.77;SOR=1.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404138.5,ENST00000375647.4,ENST00000374651.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1267005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.7983;1000g2015aug_all=0.799321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:441,0,386 1 22827931 rs4655071 C T 514.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.579;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.367;SOR=0.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404138.5,ENST00000375647.4,ENST00000374651.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.229;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.4741;1000g2015aug_all=0.400958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,20:52:99:543,0,840 1 22832743 rs209732 A T 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.209;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.08;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374651.8,ENST00000404138.5,ENST00000375647.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.7997;1000g2015aug_all=0.799121;esp6500siv2_all=0.7077;ExAC_ALL=0.6929;ExAC_AFR=0.8934;ExAC_AMR=0.8591;ExAC_EAS=0.8964;ExAC_FIN=0.6173;ExAC_NFE=0.6120;ExAC_OTH=0.6641;ExAC_SAS=0.7051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:401,0,538 1 22835677 rs209729 A G 1149.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=exonic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C;Gencode=Name\x3eENST00000375647.4,ENST00000404138.5,ENST00000374651.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.8429;1000g2015aug_all=0.822484;esp6500siv2_all=0.7818;ExAC_ALL=0.7648;ExAC_AFR=0.9102;ExAC_AMR=0.8960;ExAC_EAS=0.8982;ExAC_FIN=0.7065;ExAC_NFE=0.7209;ExAC_OTH=0.7302;ExAC_SAS=0.7137;SIFT_score=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.668;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_pred=T;phyloP100way_vertebrate=0.226;phyloP20way_mammalian=-0.827;SiPhy_29way_logOdds=2.866;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1178,102,0 1 22837849 rs209727 C T 1206.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374651.8,ENST00000404138.5,ENST00000375647.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3978;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.6153;1000g2015aug_all=0.483626;esp6500siv2_all=0.4666;ExAC_ALL=0.4146;ExAC_AFR=0.7030;ExAC_AMR=0.7328;ExAC_EAS=0.4158;ExAC_FIN=0.3632;ExAC_NFE=0.3510;ExAC_OTH=0.3736;ExAC_SAS=0.2892;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1235,90,0 1 22846452 rs7551801 C G 703.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404138.5,ENST00000375647.4,ENST00000374651.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3562;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.4039;1000g2015aug_amr=0.5043;1000g2015aug_all=0.359225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:732,60,0 1 22846709 rs209720 G A 1758.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.487;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=exonic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M;Gencode=Name\x3eENST00000374651.8,ENST00000404138.5,ENST00000375647.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.994;1000g2015aug_afr=1;1000g2015aug_amr=0.9971;1000g2015aug_all=0.998403;esp6500siv2_all=0.9961;ExAC_ALL=0.9970;ExAC_AFR=0.9992;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=0.9976;ExAC_NFE=0.9955;ExAC_OTH=0.9967;ExAC_SAS=0.9992;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.465;MutationAssessor_pred=N;FATHMM_score=3.53;FATHMM_pred=T;phyloP100way_vertebrate=1.868;phyloP20way_mammalian=-0.113;SiPhy_29way_logOdds=8.282;gerp++gt2=5.79;CADD=1.673;CADD_Phred=14.26;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1787,165,0 1 22848972 rs61769198 A C 1439.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB40;Func=intronic;Gene=NM_001083621,NM_001330398,NM_014870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374651.8,ENST00000404138.5,ENST00000375647.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61769198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.2291;1000g2015aug_all=0.109225;esp6500siv2_all=0.1747;ExAC_ALL=0.1774;ExAC_AFR=0.0925;ExAC_AMR=0.2833;ExAC_EAS=0.0023;ExAC_FIN=0.1855;ExAC_NFE=0.2140;ExAC_OTH=0.1542;ExAC_SAS=0.0985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1468,138,0 1 22879012 rs61767281 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014870,NM_020526;GeneDetail=dist\x3e21362\x3bdist\x3e10983;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61767281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0368;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 22895820 rs45498698 G A 2074.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.035;DP=164;ExcessHet=3.0103;FS=2.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.523;SOR=0.944;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA8;Func=exonic;Gene=NM_001006943,NM_020526;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EPHA8:NM_001006943:exon2:c.G133A:p.G45S,EPHA8:NM_020526:exon2:c.G133A:p.G45S;Gencode=Name\x3eENST00000166244.7,ENST00000538803.1,ENST00000374644.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45498698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00299521;esp6500siv2_all=0.0058;ExAC_ALL=0.0061;ExAC_AFR=0.0013;ExAC_AMR=0.0034;ExAC_EAS=0;ExAC_FIN=0.0129;ExAC_NFE=0.0081;ExAC_OTH=0.0012;ExAC_SAS=0.0030;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.155;MutationAssessor_pred=M;FATHMM_score=2.76;FATHMM_pred=T;phyloP100way_vertebrate=7.308;phyloP20way_mammalian=0.988;SiPhy_29way_logOdds=13.043;gerp++gt2=3.58;CADD=6.025;CADD_Phred=27.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:92,72:164:99:2103,0,2574 1 22902523 rs11580191 C T 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=1.216;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA8;Func=intronic;Gene=NM_001006943,NM_020526;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374644.8,ENST00000538803.1,ENST00000166244.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e264\x3bName\x3e"47535:MIRb(SINE)";avsnp150=rs11580191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0399;1000g2015aug_eur=0.0875;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:309,0,399 1 22923859 rs144329757 C A 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.226;DP=37;ExcessHet=3.0103;FS=1.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.717;SOR=0.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA8;Func=exonic;Gene=NM_020526;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EPHA8:NM_020526:exon10:c.C1820A:p.P607H;Gencode=Name\x3eENST00000166244.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144329757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0089;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00339457;esp6500siv2_all=0.0060;ExAC_ALL=0.0061;ExAC_AFR=0.0012;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0132;ExAC_NFE=0.0084;ExAC_OTH=0.0011;ExAC_SAS=0.0032;SIFT_score=0.07;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.36;Polyphen2_HVAR_pred=B;LRT_score=0.020;LRT_pred=N;MutationTaster_score=0.957;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-0.83;FATHMM_pred=T;phyloP100way_vertebrate=1.816;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=11.391;gerp++gt2=3.72;CADD=4.670;CADD_Phred=24.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,24:37:99:595,0,297 1 22925232 rs765590431 G A 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.301;DP=38;ExcessHet=3.0103;FS=4.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=-1.498;SOR=0.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA8;Func=intronic;Gene=NM_020526;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000166244.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs765590431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,21:38:99:717,0,550 1 22987958 rs10580 A G 2245.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1QB;Func=UTR3;Gene=NM_000491;GeneDetail=NM_000491:c.*79A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509305.5,ENST00000314933.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9751;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.987;1000g2015aug_all=0.991414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2274,210,0 1 23045943 rs2869513 A G 1039.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.702;DP=77;ExcessHet=3.0103;FS=0.855;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.2;SOR=0.83;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000544305.5,ENST00000374632.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e694\x3bName\x3e"47909:Charlie8(DNA)";avsnp150=rs2869513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.4669;1000g2015aug_all=0.342652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,42:77:99:1068,0,956 1 23057190 rs12732926 G A 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000374632.7,ENST00000544305.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e600\x3bName\x3e"47945:L2a(LINE)";avsnp150=rs12732926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.337;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.2349;1000g2015aug_all=0.166933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 23101688 rs1561624 T G 2078.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374632.7,ENST00000544305.5,ENST00000374627.1,ENST00000374630.7,ENST00000400191.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e523\x3bName\x3e"48066:MIR(SINE)";avsnp150=rs1561624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.6801;1000g2015aug_all=0.691693;esp6500siv2_all=0.8069;ExAC_ALL=0.7971;ExAC_AFR=0.6969;ExAC_AMR=0.6942;ExAC_EAS=0.3867;ExAC_FIN=0.9052;ExAC_NFE=0.8682;ExAC_OTH=0.8194;ExAC_SAS=0.8148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2107,173,0 1 23108089 rs2817904 A G 486.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374632.7,ENST00000544305.5,ENST00000374627.1,ENST00000374630.7,ENST00000400191.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.6643;1000g2015aug_all=0.57508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:515,42,0 1 23191746 rs45550439 G T 1069.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.508;DP=88;ExcessHet=3.0103;FS=3.466;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.194;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374632.7,ENST00000544305.5,ENST00000374627.1,ENST00000374630.7,ENST00000400191.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45550439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0547125;esp6500siv2_all=0.1146;ExAC_ALL=0.1127;ExAC_AFR=0.0259;ExAC_AMR=0.0659;ExAC_EAS=0.0001;ExAC_FIN=0.1355;ExAC_NFE=0.1621;ExAC_OTH=0.12;ExAC_SAS=0.0505;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,37:88:99:1098,0,1479 1 23202054 rs2203608 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374630.7,ENST00000400191.7,ENST00000544305.5,ENST00000374627.1,ENST00000374632.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2203608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6762;1000g2015aug_amr=0.9697;1000g2015aug_all=0.909744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 23216712 rs309474 T C 1160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.475;DP=100;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.515;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374630.7,ENST00000400191.7,ENST00000374632.7,ENST00000544305.5,ENST00000374627.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs309474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.5189;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.5634;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,43:100:99:1189,0,1625 1 23219187 rs116119 C T 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.656;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=0.119;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000374632.7,ENST00000374627.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e364\x3bName\x3e"48360:MLT1H2(LTR)";avsnp150=rs116119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.499;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.5029;1000g2015aug_all=0.357428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:224,0,415 1 23219493 rs309472 T C 5800.77 PASS AC=2;AF=1;AN=2;DP=179;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=exonic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHB2:NM_001309192:exon7:c.T1545C:p.G515G,EPHB2:NM_001309193:exon7:c.T1545C:p.G515G,EPHB2:NM_004442:exon7:c.T1545C:p.G515G,EPHB2:NM_017449:exon7:c.T1545C:p.G515G;Gencode=Name\x3eENST00000374632.7,ENST00000374627.1,ENST00000374630.7,ENST00000400191.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs309472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.998203;esp6500siv2_all=0.9942;ExAC_ALL=0.9963;ExAC_AFR=0.9986;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=0.9973;ExAC_NFE=0.9943;ExAC_OTH=0.9978;ExAC_SAS=0.9993;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,179:179:99:5829,537,0 1 23221655 rs309467 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000374627.1,ENST00000374632.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e750\x3bName\x3e"48369:MIR(SINE)";avsnp150=rs309467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.498;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.4986;1000g2015aug_all=0.355831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 23221855 rs77501996 A G 472.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.536;DP=42;ExcessHet=3.0103;FS=7.916;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.333;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374627.1,ENST00000374632.7,ENST00000400191.7,ENST00000374630.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77501996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.0795;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.036;1000g2015aug_all=0.0321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,17:42:99:501,0,767 1 23223116 rs309466 C T 443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.548;DP=43;ExcessHet=3.0103;FS=1.33;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=2.611;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374627.1,ENST00000374632.7,ENST00000400191.7,ENST00000374630.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e693\x3bName\x3e"48371:L2b(LINE)";avsnp150=rs309466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.497;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.5043;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,18:43:99:472,0,676 1 23232400 rs309502 C T 488.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.434;DP=39;ExcessHet=3.0103;FS=2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.614;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374632.7,ENST00000374627.1,ENST00000374630.7,ENST00000400191.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs309502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.5389;1000g2015aug_all=0.511981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,16:39:99:517,0,775 1 23233600 rs309500 A G 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.251;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000374627.1,ENST00000374632.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e750\x3bName\x3e"48401:MER117(DNA)";avsnp150=rs309500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.5648;1000g2015aug_all=0.545927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:196,0,292 1 23234946 rs309499 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400191.7,ENST00000374630.7,ENST00000374632.7,ENST00000374627.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e383\x3bName\x3e"48404:L2b(LINE)";avsnp150=rs309499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3581;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.7965;1000g2015aug_amr=0.5677;1000g2015aug_all=0.546526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 23236192 rs309498 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374632.7,ENST00000374627.1,ENST00000400191.7,ENST00000374630.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs309498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.5663;1000g2015aug_all=0.546526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 23236826 rs309497 C T 1401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.491;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.093;SOR=0.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHB2;Func=intronic;Gene=NM_001309192,NM_001309193,NM_004442,NM_017449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374627.1,ENST00000374632.7,ENST00000400191.7,ENST00000374630.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs309497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.503;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.5346;1000g2015aug_all=0.512979;esp6500siv2_all=0.5823;ExAC_ALL=0.4955;ExAC_AFR=0.7458;ExAC_AMR=0.5308;ExAC_EAS=0.2294;ExAC_FIN=0.4824;ExAC_NFE=0.5076;ExAC_OTH=0.4810;ExAC_SAS=0.4115;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,50:83:99:1430,0,890 1 23278219 rs11588493 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001309193,NM_001289974;GeneDetail=dist\x3e30226\x3bdist\x3e1317;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2352\x3bName\x3e"48521:AluSg(SINE)";avsnp150=rs11588493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.4813;1000g2015aug_all=0.397963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 23279604 rs183423016 C T 1683.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.136;DP=141;ExcessHet=3.0103;FS=4.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.078;SOR=1.063;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=exonic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000618559.1,ENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183423016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00139776;esp6500siv2_all=.;ExAC_ALL=0.0063;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0427;ExAC_NFE=0.0033;ExAC_OTH=0.0625;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=2.16;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=5.477;phyloP20way_mammalian=0.769;SiPhy_29way_logOdds=11.964;gerp++gt2=3.68;CADD=6.993;CADD_Phred=33;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,68:141:99:1712,0,1880 1 23280424 rs12048993 G T 849.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.925;DP=86;ExcessHet=3.0103;FS=1.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.431;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=exonic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000618559.1,ENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12048993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.4798;1000g2015aug_all=0.394369;esp6500siv2_all=.;ExAC_ALL=0.3702;ExAC_AFR=0.2798;ExAC_AMR=0.4549;ExAC_EAS=0.5795;ExAC_FIN=0.3125;ExAC_NFE=0.3512;ExAC_OTH=0.3312;ExAC_SAS=0.3778;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=1.305;MutationAssessor_pred=L;FATHMM_score=1.05;FATHMM_pred=T;phyloP100way_vertebrate=1.588;phyloP20way_mammalian=-0.017;SiPhy_29way_logOdds=6.082;gerp++gt2=.;CADD=1.633;CADD_Phred=14.03;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,34:86:99:878,0,1388 1 23285678 rs309510 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.992;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=intronic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426928.6,ENST00000618559.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e507\x3bName\x3e"48539:MIRb(SINE)";avsnp150=rs309510;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9914;1000g2015aug_all=0.991813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,151 1 23286224 rs11577583 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=intronic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618559.1,ENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e235\x3bName\x3e"48540:MIR3(SINE)";avsnp150=rs11577583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.666;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.4092;1000g2015aug_all=0.400559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 23286752 rs751168 T G 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.992;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=intronic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618559.1,ENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs751168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.453;1000g2015aug_eur=0.673;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.4107;1000g2015aug_all=0.403954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:100,0,136 1 23289568 rs10799777 T C 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.174;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.347;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=intronic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618559.1,ENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.674;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.4308;1000g2015aug_all=0.439297;esp6500siv2_all=.;ExAC_ALL=0.5723;ExAC_AFR=0.2411;ExAC_AMR=0.4505;ExAC_EAS=0.5278;ExAC_FIN=0.7466;ExAC_NFE=0.6831;ExAC_OTH=0.6842;ExAC_SAS=0.45;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:373,0,261 1 23291582 rs4655138 G A 663.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.856;DP=56;ExcessHet=3.0103;FS=6.579;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.823;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLACTBL1;Func=intronic;Gene=NM_001289974;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426928.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e444\x3bName\x3e"48552:MIRc(SINE)";avsnp150=rs4655138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.637;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.6326;1000g2015aug_all=0.527556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:692,0,854 1 23301943 rs3845520 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001289974,NM_001242521;GeneDetail=dist\x3e10020\x3bdist\x3e35384;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e562\x3bName\x3e"48588:MER5B(DNA)";avsnp150=rs3845520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.5937;1000g2015aug_all=0.66274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 23302056 rs3843300 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001289974,NM_001242521;GeneDetail=dist\x3e10133\x3bdist\x3e35271;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e599\x3bName\x3e"48589:MER5A1(DNA)";avsnp150=rs3843300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.5937;1000g2015aug_all=0.66274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 23330497 rs491139 G A 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=0.816;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001289974,NM_001242521;GeneDetail=dist\x3e38574\x3bdist\x3e6830;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2392\x3bName\x3e"48673:LTR7C(LTR)";avsnp150=rs491139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.825;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.6239;1000g2015aug_all=0.735224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,184 1 23342193 rs10917344 C G 666.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.154;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.84;ReadPosRankSum=-1.519;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf234;Func=intronic;Gene=NM_001242521;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000566855.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3308\x3bName\x3e"48714:L1MB2(LINE)";avsnp150=rs10917344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.2995;1000g2015aug_amr=0.3746;1000g2015aug_all=0.403754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,20:32:99:695,0,393 1 23342362 rs681648 A G 1601.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.155;DP=109;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.266;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001242521;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3308\x3bName\x3e"48714:L1MB2(LINE)";avsnp150=rs681648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.621;1000g2015aug_all=0.734425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,62:109:99:1630,0,1134 1 23380198 rs579785 A G 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-1.309;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427154.1,ENST00000400181.8,ENST00000356634.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs579785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.827;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.6254;1000g2015aug_all=0.749601;esp6500siv2_all=0.8311;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,182 1 23382729 rs763310 A G 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.611;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356634.7,ENST00000400181.8,ENST00000427154.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs763310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.827;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.6254;1000g2015aug_all=0.749601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:100,0,185 1 23399932 rs967605 C T 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.063;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=1.411;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400181.8,ENST00000427154.1,ENST00000356634.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs967605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.827;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.621;1000g2015aug_all=0.739816;esp6500siv2_all=0.8207;ExAC_ALL=0.7676;ExAC_AFR=0.8134;ExAC_AMR=0.4954;ExAC_EAS=0.8099;ExAC_FIN=0.8807;ExAC_NFE=0.8370;ExAC_OTH=0.8046;ExAC_SAS=0.5783;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:168,0,267 1 23405794 rs2072945 A C 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.309;DP=41;ExcessHet=3.0103;FS=1.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.691;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400181.8,ENST00000427154.1,ENST00000356634.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.7983;1000g2015aug_all=0.742412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,15:41:99:367,0,746 1 23405865 rs72657829 A C 413.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.404;DP=38;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.149;SOR=1.008;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356634.7,ENST00000427154.1,ENST00000400181.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72657829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0389377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:442,0,766 1 23409538 rs2235546 G A 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=-1.519;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM1A;Func=intronic;Gene=NM_001009999,NM_015013;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400181.8,ENST00000427154.1,ENST00000356634.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.318;1000g2015aug_eur=0.4891;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.3372;1000g2015aug_all=0.328874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:334,0,167 1 23418153 rs10799790 C T 5896.77 PASS AC=2;AF=1;AN=2;DP=176;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.5;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLUZP1;Func=exonic;Gene=NM_001142546,NM_033631;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LUZP1:NM_001142546:exon3:c.G2602A:p.D868N,LUZP1:NM_033631:exon4:c.G2602A:p.D868N;Gencode=Name\x3eENST00000302291.8,ENST00000314174.5,ENST00000418342.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.827;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.6225;1000g2015aug_all=0.746206;esp6500siv2_all=0.8257;ExAC_ALL=0.7686;ExAC_AFR=0.8271;ExAC_AMR=0.4946;ExAC_EAS=0.8123;ExAC_FIN=0.8809;ExAC_NFE=0.8373;ExAC_OTH=0.8073;ExAC_SAS=0.5760;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.34;MutationAssessor_pred=N;FATHMM_score=2.87;FATHMM_pred=T;phyloP100way_vertebrate=1.187;phyloP20way_mammalian=0.117;SiPhy_29way_logOdds=6.231;gerp++gt2=2.74;CADD=0.983;CADD_Phred=10.56;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,176:176:99:5925,528,0 1 23419261 rs477717 G A 3962.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLUZP1;Func=exonic;Gene=NM_001142546,NM_033631;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LUZP1:NM_001142546:exon3:c.C1494T:p.S498S,LUZP1:NM_033631:exon4:c.C1494T:p.S498S;Gencode=Name\x3eENST00000314174.5,ENST00000302291.8,ENST00000418342.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs477717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.828;1000g2015aug_afr=0.643;1000g2015aug_amr=0.5937;1000g2015aug_all=0.690495;esp6500siv2_all=0.7698;ExAC_ALL=0.7529;ExAC_AFR=0.6559;ExAC_AMR=0.4889;ExAC_EAS=0.8124;ExAC_FIN=0.8811;ExAC_NFE=0.8364;ExAC_OTH=0.7996;ExAC_SAS=0.5764;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3991,342,0 1 23419374 rs3765407 G T 3167.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.8;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLUZP1;Func=exonic;Gene=NM_001142546,NM_033631;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K;Gencode=Name\x3eENST00000302291.8,ENST00000314174.5,ENST00000418342.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.828;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.5922;1000g2015aug_all=0.676917;esp6500siv2_all=0.7557;ExAC_ALL=0.7490;ExAC_AFR=0.6118;ExAC_AMR=0.4871;ExAC_EAS=0.8119;ExAC_FIN=0.8811;ExAC_NFE=0.8364;ExAC_OTH=0.7996;ExAC_SAS=0.5760;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.403;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.082;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.28;MutationAssessor_pred=M;FATHMM_score=2.7;FATHMM_pred=T;phyloP100way_vertebrate=2.989;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=13.124;gerp++gt2=3.97;CADD=1.206;CADD_Phred=11.78;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:3196,222,0 1 23419383 rs477830 C T 2998.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=0.849;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLUZP1;Func=exonic;Gene=NM_001142546,NM_033631;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S;Gencode=Name\x3eENST00000418342.5,ENST00000302291.8,ENST00000314174.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs477830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.828;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.5937;1000g2015aug_all=0.690296;esp6500siv2_all=0.7699;ExAC_ALL=0.7530;ExAC_AFR=0.6560;ExAC_AMR=0.4886;ExAC_EAS=0.8125;ExAC_FIN=0.8808;ExAC_NFE=0.8365;ExAC_OTH=0.7996;ExAC_SAS=0.5767;SIFT_score=0.183;SIFT_pred=T;Polyphen2_HDIV_score=0.038;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.485;MutationAssessor_pred=M;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=1.564;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=12.789;gerp++gt2=3.97;CADD=1.118;CADD_Phred=11.31;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:3027,205,0 1 23419855 rs1983965 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLUZP1;Func=exonic;Gene=NM_001142546,NM_033631;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T;Gencode=Name\x3eENST00000418342.5,ENST00000314174.5,ENST00000302291.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1983965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.6225;1000g2015aug_all=0.747404;esp6500siv2_all=0.8269;ExAC_ALL=0.7691;ExAC_AFR=0.8299;ExAC_AMR=0.4961;ExAC_EAS=0.8113;ExAC_FIN=0.8809;ExAC_NFE=0.8376;ExAC_OTH=0.8073;ExAC_SAS=0.5766;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 23508657 rs1757039 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_033631,NM_000864;GeneDetail=dist\x3e13306\x3bdist\x3e9731;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2300\x3bName\x3e"49087:AluY(SINE)";avsnp150=rs1757039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.2651;1000g2015aug_all=0.342053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23510584 rs2776815 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_033631,NM_000864;GeneDetail=dist\x3e15233\x3bdist\x3e7804;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2776815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.2651;1000g2015aug_all=0.342851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23510601 rs1757048 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_033631,NM_000864;GeneDetail=dist\x3e15250\x3bdist\x3e7787;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1757048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.5346;1000g2015aug_all=0.554912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23519477 rs623988 C T 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.816;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHTR1D;Func=UTR3;Gene=NM_000864;GeneDetail=NM_000864:c.*102G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374619.1;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.2637;1000g2015aug_all=0.342452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:186,0,120 1 23543929 rs7414010 T C 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-0.385;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000864,NR_110616;GeneDetail=dist\x3e22707\x3bdist\x3e63873;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7414010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.2495;1000g2015aug_afr=0.4017;1000g2015aug_amr=0.3487;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,73 1 23589214 rs12565271 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000864,NR_110616;GeneDetail=dist\x3e67992\x3bdist\x3e18588;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1398\x3bName\x3e"49371:AluJr(SINE)";avsnp150=rs12565271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.4784;1000g2015aug_all=0.45647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 23664511 rs11586100 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHNRNPR;Func=intronic;Gene=NM_001102397,NM_001102398,NM_001102399,NM_001297620,NM_001297621,NM_001297622,NM_005826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606561.5,ENST00000427764.3,ENST00000478691.5,ENST00000302271.10,ENST00000374616.7,ENST00000374612.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e354\x3bName\x3e"49536:L2a(LINE)";avsnp150=rs11586100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.4755;1000g2015aug_all=0.464856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 23688933 rs2849028 A G 5009.77 PASS AC=2;AF=1;AN=2;DP=152;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF436;Func=exonic;Gene=NM_001077195,NM_030634;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N;Gencode=Name\x3eENST00000374608.3,ENST00000314011.8;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2849028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.498;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.6499;1000g2015aug_all=0.509984;esp6500siv2_all=0.5780;ExAC_ALL=0.6487;ExAC_AFR=0.2577;ExAC_AMR=0.6241;ExAC_EAS=0.6406;ExAC_FIN=0.7299;ExAC_NFE=0.7337;ExAC_OTH=0.6586;ExAC_SAS=0.5402;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,152:152:99:5038,456,0 1 23693422 rs2849025 T C 1748.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF436;Func=intronic;Gene=NM_001077195,NM_030634;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314011.8,ENST00000374608.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2849025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.5;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.6542;1000g2015aug_all=0.521366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1777,168,0 1 23696152 rs665977 G A 3429.77 PASS AC=2;AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF436-AS1,ZNF436;Func=ncRNA_exonic;Gene=NR_033690;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454117.1,ENST00000437367.3,ENST00000518821.1,ENST00000335648.3;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs665977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.889;1000g2015aug_all=0.781749;esp6500siv2_all=0.8082;ExAC_ALL=0.8854;ExAC_AFR=0.5907;ExAC_AMR=0.9407;ExAC_EAS=0.9191;ExAC_FIN=0.9430;ExAC_NFE=0.9226;ExAC_OTH=0.8837;ExAC_SAS=0.8353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,105:105:99:3458,315,0 1 23706760 rs664755 G A 142.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.25;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1861\x3bName\x3e"49629:AluSz(SINE)";avsnp150=rs664755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.7594;1000g2015aug_all=0.56849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:170,12,0 1 23710805 rs605468 A G 1905.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs605468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.9308;1000g2015aug_all=0.851837;esp6500siv2_all=0.8768;ExAC_ALL=0.8986;ExAC_AFR=0.7717;ExAC_AMR=0.9480;ExAC_EAS=0.9177;ExAC_FIN=0.9400;ExAC_NFE=0.9197;ExAC_OTH=0.8842;ExAC_SAS=0.8283;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1934,183,0 1 23713952 rs676363 T G 1991.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs676363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.9294;1000g2015aug_all=0.852037;esp6500siv2_all=0.8798;ExAC_ALL=0.8887;ExAC_AFR=0.7870;ExAC_AMR=0.9417;ExAC_EAS=0.9165;ExAC_FIN=0.9349;ExAC_NFE=0.9209;ExAC_OTH=0.8768;ExAC_SAS=0.8358;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2020,192,0 1 23720185 rs4648892 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e620\x3bName\x3e"49670:MIR(SINE)";avsnp150=rs4648892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.5793;1000g2015aug_all=0.453874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 23720260 rs2486078 T G 877.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=6.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.8429;1000g2015aug_all=0.896765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:906,66,0 1 23724183 rs2275355 C T 488.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.5692;1000g2015aug_all=0.452476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 23735241 rs1198423 G T 2789.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=0.947;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6,ENST00000461794.1,ENST00000374601.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1198423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.862;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.8674;1000g2015aug_all=0.842452;esp6500siv2_all=0.8459;ExAC_ALL=0.8778;ExAC_AFR=0.7829;ExAC_AMR=0.8947;ExAC_EAS=0.8998;ExAC_FIN=0.8678;ExAC_NFE=0.8872;ExAC_OTH=0.86;ExAC_SAS=0.8816;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2818,258,0 1 23743581 rs2156087 C G 1494.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=intronic;Gene=NM_003196;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461794.1,ENST00000450454.6,ENST00000374601.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e674\x3bName\x3e"49746:LTR87(LTR)";avsnp150=rs2156087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.6974;1000g2015aug_all=0.52496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1523,129,0 1 23751140 rs71514235 G T 965.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEA3;Func=UTR5;Gene=NM_003196;GeneDetail=NM_003196:c.-14C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450454.6,ENST00000374601.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71514235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.672;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.611;1000g2015aug_all=0.445687;esp6500siv2_all=0.5319;ExAC_ALL=0.6165;ExAC_AFR=0.1792;ExAC_AMR=0.6577;ExAC_EAS=0.5820;ExAC_FIN=0.7358;ExAC_NFE=0.6854;ExAC_OTH=0.6199;ExAC_SAS=0.5348;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:994,102,0 1 23755513 rs1198430 T C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.57;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=UTR3;Gene=NM_001143778,NM_017707;GeneDetail=NM_001143778:c.*836A>G\x3bNM_017707:c.*836A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618240.4,ENST00000336689.7,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1198430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.8818;1000g2015aug_all=0.870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 23756155 rs1198432 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=UTR3;Gene=NM_001143778,NM_017707;GeneDetail=NM_001143778:c.*194A>G\x3bNM_017707:c.*194A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495646.5,ENST00000336689.7,ENST00000618240.4;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1198432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.8818;1000g2015aug_all=0.871006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 23756695 rs1198433 A G 183.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336689.7,ENST00000618240.4,ENST00000437606.6,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1198433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.7565;1000g2015aug_all=0.640974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:212,18,0 1 23758134 rs1198434 A G 3328.77 PASS AC=2;AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.109;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437606.6,ENST00000336689.7,ENST00000618240.4,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e217\x3bName\x3e"49779:MIRc(SINE)";avsnp150=rs1198434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.8818;1000g2015aug_all=0.871006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,112:112:99:3357,336,0 1 23758499 rs72661455 T A 136.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618240.4,ENST00000336689.7,ENST00000437606.6,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2330\x3bName\x3e"49780:AluSx(SINE)";avsnp150=rs72661455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:165,15,0 1 23760408 rs1207124 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437606.6,ENST00000618240.4,ENST00000336689.7,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e850\x3bName\x3e"49784:MIR(SINE)";avsnp150=rs1207124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.944;1000g2015aug_amr=0.8919;1000g2015aug_all=0.90016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 23762679 rs12401753 A G 536.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437606.6,ENST00000336689.7,ENST00000618240.4,ENST00000495646.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2116\x3bName\x3e"49790:AluSz6(SINE)";avsnp150=rs12401753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.6988;1000g2015aug_all=0.529553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:565,48,0 1 23763449 rs115515935 G A 1183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.316;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.349;SOR=0.715;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=exonic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASAP3:NM_001143778:exon14:c.C1404T:p.R468R,ASAP3:NM_017707:exon15:c.C1431T:p.R477R;Gencode=Name\x3eENST00000618240.4,ENST00000336689.7,ENST00000437606.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115515935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0499201;esp6500siv2_all=0.0738;ExAC_ALL=0.0884;ExAC_AFR=0.0256;ExAC_AMR=0.0458;ExAC_EAS=0.0002;ExAC_FIN=0.1289;ExAC_NFE=0.1141;ExAC_OTH=0.0792;ExAC_SAS=0.0848;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,45:86:99:1212,0,1182 1 23764149 rs2297841 C G 846.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=6.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336689.7,ENST00000618240.4,ENST00000437606.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.4372;1000g2015aug_amr=0.7622;1000g2015aug_all=0.640575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:875,63,0 1 23765472 rs1767148 A G 1090.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437606.6,ENST00000618240.4,ENST00000336689.7;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1767148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.8804;1000g2015aug_all=0.870008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1119,90,0 1 23769359 rs946269 T C 767.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618240.4,ENST00000336689.7,ENST00000437606.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e293\x3bName\x3e"49802:L2b(LINE)";avsnp150=rs946269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.593;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.438;1000g2015aug_amr=0.7622;1000g2015aug_all=0.639776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:796,72,0 1 23803138 rs10917388 A G 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=intronic;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336689.7,ENST00000618240.4,ENST00000437606.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1127\x3bName\x3e"49920:L2b(LINE)";avsnp150=rs10917388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.834;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.7075;1000g2015aug_all=0.549521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 23810658 rs71514236 G A 312.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASAP3;Func=UTR5;Gene=NM_001143778,NM_017707;GeneDetail=NM_001143778:c.-32C>T\x3bNM_017707:c.-32C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618240.4,ENST00000336689.7,ENST00000437606.6;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"49942:G-rich(Low_complexity)";avsnp150=rs71514236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.6167;1000g2015aug_all=0.453874;esp6500siv2_all=0.6875;ExAC_ALL=0.7759;ExAC_AFR=0.4386;ExAC_AMR=0.8145;ExAC_EAS=0.7202;ExAC_FIN=0.8621;ExAC_NFE=0.8127;ExAC_OTH=0.6875;ExAC_SAS=0.5915;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:341,33,0 1 23811061 rs12727881 C T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001143778,NM_017707;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12727881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.6138;1000g2015aug_all=0.460264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 23836364 rs2075993 A G 455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.472;DP=35;ExcessHet=3.0103;FS=1.313;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.199;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eE2F2;Func=UTR3;Gene=NM_004091;GeneDetail=NM_004091:c.*8T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361729.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.4193;1000g2015aug_all=0.348842;esp6500siv2_all=0.3801;ExAC_ALL=0.4727;ExAC_AFR=0.1262;ExAC_AMR=0.3763;ExAC_EAS=0.5988;ExAC_FIN=0.5874;ExAC_NFE=0.5258;ExAC_OTH=0.5030;ExAC_SAS=0.3725;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:484,0,461 1 23847464 rs2075995 C A 713.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.719;DP=58;ExcessHet=3.0103;FS=0.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.047;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eE2F2;Func=exonic;Gene=NM_004091;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=E2F2:NM_004091:exon4:c.G678T:p.Q226H;Gencode=Name\x3eENST00000361729.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.5089;1000g2015aug_afr=0.062;1000g2015aug_amr=0.4092;1000g2015aug_all=0.355232;esp6500siv2_all=0.3758;ExAC_ALL=0.4514;ExAC_AFR=0.1134;ExAC_AMR=0.3623;ExAC_EAS=0.6199;ExAC_FIN=0.5781;ExAC_NFE=0.5112;ExAC_OTH=0.4570;ExAC_SAS=0.3455;SIFT_score=0.44;SIFT_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.669;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.024;MutationTaster_pred=P;MutationAssessor_score=2.15;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_pred=D;phyloP100way_vertebrate=0.078;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=14.136;gerp++gt2=5.06;CADD=4.114;CADD_Phred=23.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,28:58:99:742,0,861 1 23847709 rs2075996 C G 405.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.666;DP=40;ExcessHet=3.0103;FS=1.249;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.953;SOR=0.476;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eE2F2;Func=intronic;Gene=NM_004091;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361729.2;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.5202;1000g2015aug_all=0.509185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:434,0,610 1 23885230 rs2067054 C G 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.041;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.264;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eID3;Func=intronic;Gene=NM_002167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374561.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2067054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.335;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.3141;1000g2015aug_all=0.448682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:304,0,459 1 23885498 rs11574 T C 3859.77 PASS AC=2;AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eID3;Func=exonic;Gene=NM_002167;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ID3:NM_002167:exon2:c.A313G:p.T105A;Gencode=Name\x3eENST00000374561.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.7392;1000g2015aug_all=0.890375;esp6500siv2_all=0.8219;ExAC_ALL=0.8037;ExAC_AFR=0.9508;ExAC_AMR=0.7009;ExAC_EAS=0.9754;ExAC_FIN=0.6796;ExAC_NFE=0.7620;ExAC_OTH=0.8142;ExAC_SAS=0.9101;SIFT_score=0.865;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.902;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=-0.56;FATHMM_pred=T;phyloP100way_vertebrate=-0.496;phyloP20way_mammalian=-1.609;SiPhy_29way_logOdds=4.909;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,116:116:99:3888,348,0 1 23885599 rs2067053 T C 1846.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.142;DP=124;ExcessHet=3.0103;FS=8.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.464;SOR=0.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eID3;Func=intronic;Gene=NM_002167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374561.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2067053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.337;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.3473;1000g2015aug_all=0.463658;esp6500siv2_all=0.4114;ExAC_ALL=0.3787;ExAC_AFR=0.6012;ExAC_AMR=0.3141;ExAC_EAS=0.3437;ExAC_FIN=0.3121;ExAC_NFE=0.3302;ExAC_OTH=0.3916;ExAC_SAS=0.5244;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,67:124:99:1875,0,1551 1 23886073 rs2742946 T C 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.144;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.423;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eID3;Func=UTR5;Gene=NM_002167;GeneDetail=NM_002167:c.-156A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374561.5;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2742946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.3963;1000g2015aug_all=0.435104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:395,0,339 1 23899115 rs55919909 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002167,NM_001348075;GeneDetail=dist\x3e12831\x3bdist\x3e54709;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2209\x3bName\x3e"50210:AluYm1(SINE)";avsnp150=rs55919909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.649;1000g2015aug_amr=0.4986;1000g2015aug_all=0.609425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23909102 rs6682449 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002167,NM_001348075;GeneDetail=dist\x3e22818\x3bdist\x3e44722;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"50240:AluY(SINE)";avsnp150=rs6682449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9888;1000g2015aug_eur=1;1000g2015aug_afr=0.9085;1000g2015aug_amr=0.9971;1000g2015aug_all=0.973243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23909116 rs6696709 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002167,NM_001348075;GeneDetail=dist\x3e22832\x3bdist\x3e44708;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"50240:AluY(SINE)";avsnp150=rs6696709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 23965517 rs61777309 G A 48.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.82;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=0.337;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDS2;Func=intronic;Gene=NM_001348075;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374555.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61777309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.1112;1000g2015aug_amr=0.4035;1000g2015aug_all=0.285543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,3:16:77:77,0,461 1 23965704 rs10917403 A C 852.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.357;DP=85;ExcessHet=3.0103;FS=5.61;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.372;SOR=1.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDS2;Func=exonic;Gene=NM_001348075;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MDS2:NM_001348075:exon5:c.A109C:p.N37H;Gencode=Name\x3eENST00000374555.7,ENST00000612756.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.3963;1000g2015aug_all=0.274361;esp6500siv2_all=0.2030;ExAC_ALL=0.2848;ExAC_AFR=0.1113;ExAC_AMR=0.5187;ExAC_EAS=0.4485;ExAC_FIN=0.2446;ExAC_NFE=0.2374;ExAC_OTH=0.3056;ExAC_SAS=0.3236;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.884;phyloP20way_mammalian=-0.238;SiPhy_29way_logOdds=6.825;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,37:85:99:881,0,1340 1 23965829 rs10917404 C T 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.685;DP=35;ExcessHet=3.0103;FS=2.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.199;SOR=1.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDS2;Func=intronic;Gene=NM_001348075;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612756.1,ENST00000374555.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.318;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.3963;1000g2015aug_all=0.274161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,16:35:99:529,0,618 1 23966837 rs1317329 C T 355.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.738;DP=38;ExcessHet=3.0103;FS=1.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.178;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDS2;Func=intronic;Gene=NM_001348075;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374555.7,ENST00000612756.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1317329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.3977;1000g2015aug_all=0.276358;esp6500siv2_all=.;ExAC_ALL=0.2495;ExAC_AFR=0.0950;ExAC_AMR=0.4356;ExAC_EAS=0.4567;ExAC_FIN=0.2243;ExAC_NFE=0.2473;ExAC_OTH=0.3222;ExAC_SAS=0.3414;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,16:38:99:384,0,617 1 23978923 rs7548320 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001348075,NM_000975;GeneDetail=dist\x3e11865\x3bdist\x3e39346;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.683;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.6037;1000g2015aug_all=0.657947;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 24018277 rs10917413 C G 1579.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPL11;Func=UTR5;Gene=NM_000975,NM_001199802;GeneDetail=NM_000975:c.-37C>G\x3bNM_001199802:c.-37C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374550.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917413;cosmic70=.;CLNALLELEID=142629;CLNDN=Diamond-Blackfan_anemia;CLNDISDB=Human_Phenotype_Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED_CT:88854002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9957;1000g2015aug_all=0.976837;esp6500siv2_all=0.9839;ExAC_ALL=0.9946;ExAC_AFR=0.9490;ExAC_AMR=0.9965;ExAC_EAS=0.9984;ExAC_FIN=0.9997;ExAC_NFE=0.9998;ExAC_OTH=0.9989;ExAC_SAS=0.9970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1608,150,0 1 24079193 rs34032899 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCEB3;Func=intronic;Gene=NM_003198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418390.6,ENST00000609199.1,ENST00000613537.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2276\x3bName\x3e"50809:AluSq2(SINE)";avsnp150=rs34032899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.115;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0826677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 24119627 rs2232982 C T 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.328;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.189;SOR=0.405;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYPLA2;Func=intronic;Gene=NM_007260;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374502.7,ENST00000374514.7,ENST00000374505.6,ENST00000374503.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0091853;esp6500siv2_all=0.0220;ExAC_ALL=0.0210;ExAC_AFR=0.0050;ExAC_AMR=0.0086;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0308;ExAC_OTH=0.0221;ExAC_SAS=0.0114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,17:33:99:392,0,433 1 24121601 rs1063433 C T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYPLA2;Func=UTR3;Gene=NM_007260;GeneDetail=NM_007260:c.*379C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374501.1,ENST00000374514.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1063433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8264;1000g2015aug_sas=0.8538;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.8905;1000g2015aug_all=0.904353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 24122986 rs760941 C T 198.81 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGALE;Func=intronic;Gene=NM_000403,NM_001008216,NM_001127621;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617979.4,ENST00000374497.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"50932:G-rich(Low_complexity)";avsnp150=rs760941;cosmic70=.;CLNALLELEID=98796;CLNDN=UDPglucose-4-epimerase_deficiency|not_specified;CLNDISDB=MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED_CT:8849004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.5349;ExAC_ALL=0.6309;ExAC_AFR=0.5169;ExAC_AMR=0.7072;ExAC_EAS=0.6126;ExAC_FIN=0.6086;ExAC_NFE=0.6115;ExAC_OTH=0.6512;ExAC_SAS=0.7277;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:20:227,20,0 1 24133612 rs1018396 G A 1806.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCL;Func=intronic;Gene=NM_000191,NM_001166059;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436439.6,ENST00000374490.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1018396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5119;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.4281;1000g2015aug_amr=0.5994;1000g2015aug_all=0.554712;esp6500siv2_all=0.5270;ExAC_ALL=0.5904;ExAC_AFR=0.4602;ExAC_AMR=0.6826;ExAC_EAS=0.5431;ExAC_FIN=0.5623;ExAC_NFE=0.5664;ExAC_OTH=0.6295;ExAC_SAS=0.7160;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1835,168,0 1 24134462 rs719399 C T 670.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCL;Func=intronic;Gene=NM_000191,NM_001166059;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374490.7,ENST00000436439.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e397\x3bName\x3e"50953:L2c(LINE)";avsnp150=rs719399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.8876;1000g2015aug_all=0.88758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:699,60,0 1 24134721 rs719400 T C 4197.77 PASS AC=2;AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCL;Func=exonic;Gene=NM_000191,NM_001166059;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L;Gencode=Name\x3eENST00000436439.6,ENST00000374490.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs719400;cosmic70=.;CLNALLELEID=98510;CLNDN=Deficiency_of_hydroxymethylglutaryl-CoA_lyase|not_specified;CLNDISDB=MedGen:C0268601,OMIM:246450,SNOMED_CT:124611007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.8876;1000g2015aug_all=0.88738;esp6500siv2_all=0.9263;ExAC_ALL=0.9042;ExAC_AFR=0.9668;ExAC_AMR=0.9007;ExAC_EAS=0.7920;ExAC_FIN=0.9631;ExAC_NFE=0.9114;ExAC_OTH=0.9108;ExAC_SAS=0.8727;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,127:127:99:4226,381,0 1 24143932 rs2076344 A G 1275.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCL;Func=intronic;Gene=NM_000191,NM_001166059;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374490.7,ENST00000436439.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076344;cosmic70=.;CLNALLELEID=249839;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.8876;1000g2015aug_all=0.88778;esp6500siv2_all=0.9265;ExAC_ALL=0.9053;ExAC_AFR=0.9669;ExAC_AMR=0.9011;ExAC_EAS=0.7961;ExAC_FIN=0.9630;ExAC_NFE=0.9126;ExAC_OTH=0.9120;ExAC_SAS=0.8731;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1304,123,0 1 24164398 rs11800561 T G 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000191,NM_000147;GeneDetail=dist\x3e12449\x3bdist\x3e7173;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5024\x3bName\x3e"51072:LTR1A2(LTR)";avsnp150=rs11800561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.5965;1000g2015aug_all=0.557907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 24200772 rs1106 C G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*253G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 24200800 rs1105 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*225A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 24200903 rs2229586 G C 1368.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*122C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.612;1000g2015aug_amr=0.6167;1000g2015aug_all=0.602037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:99:1397,99,0 1 24200921 rs2229585 T C 1805.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.09;SOR=2.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*104A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1834,132,0 1 24200969 rs2229584 T C 4665.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=1.522;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*56A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,105:105:99:4694,316,0 1 24200983 rs2229583 C T 5085.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=UTR3;Gene=NM_001841;GeneDetail=NM_001841:c.*42G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.823;1000g2015aug_amr=0.6398;1000g2015aug_all=0.661342;esp6500siv2_all=0.6409;ExAC_ALL=0.6201;ExAC_AFR=0.7838;ExAC_AMR=0.7123;ExAC_EAS=0.5380;ExAC_FIN=0.5711;ExAC_NFE=0.5729;ExAC_OTH=0.6452;ExAC_SAS=0.7288;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:5114,355,0 1 24201094 rs2229581 G C 8925.77 PASS AC=2;AF=1;AN=2;DP=203;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.C1014G:p.T338T;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6342;ExAC_ALL=0.6190;ExAC_AFR=0.7589;ExAC_AMR=0.7110;ExAC_EAS=0.5385;ExAC_FIN=0.5712;ExAC_NFE=0.5720;ExAC_OTH=0.6454;ExAC_SAS=0.7159;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,202:202:99:8954,614,0 1 24201109 rs2229580 C T 9262.77 PASS AC=2;AF=1;AN=2;DP=212;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.15;SOR=1.355;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.G999A:p.P333P;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6340;ExAC_ALL=0.6190;ExAC_AFR=0.7589;ExAC_AMR=0.7112;ExAC_EAS=0.5391;ExAC_FIN=0.5712;ExAC_NFE=0.5720;ExAC_OTH=0.6454;ExAC_SAS=0.7158;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,211:211:99:9291,641,0 1 24201262 rs2502993 A G 9719.77 PASS AC=2;AF=1;AN=2;DP=296;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.T846C:p.A282A;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2502993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6339;ExAC_ALL=0.6190;ExAC_AFR=0.7589;ExAC_AMR=0.7113;ExAC_EAS=0.5389;ExAC_FIN=0.5716;ExAC_NFE=0.5719;ExAC_OTH=0.6457;ExAC_SAS=0.7160;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,294:294:99:9748,882,0 1 24201357 rs4649124 A G 6423.77 PASS AC=2;AF=1;AN=2;DP=176;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.T751C:p.L251L;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6339;ExAC_ALL=0.6184;ExAC_AFR=0.7587;ExAC_AMR=0.7102;ExAC_EAS=0.5370;ExAC_FIN=0.5708;ExAC_NFE=0.5712;ExAC_OTH=0.6460;ExAC_SAS=0.7159;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,175:175:99:6452,525,0 1 24201448 rs3003336 C T 5555.77 PASS AC=2;AF=1;AN=2;DP=158;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.07;SOR=1.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.G660A:p.V220V;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6346;ExAC_ALL=0.6191;ExAC_AFR=0.7590;ExAC_AMR=0.7111;ExAC_EAS=0.5402;ExAC_FIN=0.5708;ExAC_NFE=0.5722;ExAC_OTH=0.6477;ExAC_SAS=0.7180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,157:157:99:5584,472,0 1 24201643 rs2501431 G A 5051.77 PASS AC=2;AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=0.952;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.C465T:p.G155G;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6339;ExAC_ALL=0.6198;ExAC_AFR=0.7588;ExAC_AMR=0.7117;ExAC_EAS=0.5412;ExAC_FIN=0.5716;ExAC_NFE=0.5723;ExAC_OTH=0.6460;ExAC_SAS=0.7199;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,154:154:99:5080,461,0 1 24201919 rs2502992 T C 9856.77 PASS AC=2;AF=1;AN=2;DP=220;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.48;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CNR2:NM_001841:exon2:c.A189G:p.Q63Q;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2502992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653954;esp6500siv2_all=0.6129;ExAC_ALL=0.6183;ExAC_AFR=0.7586;ExAC_AMR=0.7106;ExAC_EAS=0.5381;ExAC_FIN=0.5711;ExAC_NFE=0.5711;ExAC_OTH=0.6449;ExAC_SAS=0.7157;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,220:220:99:9885,665,0 1 24201920 rs2501432 T C 9856.77 PASS AC=2;AF=1;AN=2;DP=220;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=exonic;Gene=NM_001841;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CNR2:NM_001841:exon2:c.A188G:p.Q63R;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=0.6105;ExAC_ALL=0.6182;ExAC_AFR=0.7575;ExAC_AMR=0.7104;ExAC_EAS=0.5376;ExAC_FIN=0.5711;ExAC_NFE=0.5711;ExAC_OTH=0.6449;ExAC_SAS=0.7156;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.091;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.57;MutationAssessor_pred=N;FATHMM_score=-0.51;FATHMM_pred=T;phyloP100way_vertebrate=1.470;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=8.677;gerp++gt2=5.12;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,220:220:99:9885,665,0 1 24202318 rs2502991 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e647\x3bName\x3e"51173:MamGypLTR1d(LTR)";avsnp150=rs2502991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.6383;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 24207142 rs9424395 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1913\x3bName\x3e"51192:AluSq2(SINE)";avsnp150=rs9424395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.8573;1000g2015aug_all=0.790535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 24218735 rs3003323 T G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.8573;1000g2015aug_all=0.78095;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 24218742 rs4573477 G A 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4573477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.8573;1000g2015aug_all=0.780751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 24220606 rs6424131 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1990\x3bName\x3e"51238:AluJb(SINE)";avsnp150=rs6424131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.829;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.8559;1000g2015aug_all=0.783946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24220628 rs7415219 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"51239:AluSq2(SINE)";avsnp150=rs7415219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.829;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.8559;1000g2015aug_all=0.783946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24220648 rs7550908 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"51239:AluSq2(SINE)";avsnp150=rs7550908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.829;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.8559;1000g2015aug_all=0.784145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24220662 rs7550371 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"51239:AluSq2(SINE)";avsnp150=rs7550371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.829;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.8559;1000g2015aug_all=0.784145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24228108 rs4649133 G A 2222.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=1.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4649133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9928;1000g2015aug_all=0.98123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2251,194,0 1 24228132 rs4649134 G A 2524.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=1.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4649134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9928;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2553,218,0 1 24228206 rs4649135 A G 3952.77 PASS AC=2;AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4649135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3981,343,0 1 24228359 rs4649136 A G 3186.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.9;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4649136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3215,282,0 1 24228408 rs4648921 C T 2198.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.888;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4648921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2227,186,0 1 24228419 rs4648922 T C 1826.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=1.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4648922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1855,159,0 1 24228443 rs4648923 G A 1496.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.35;SOR=2.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs4648923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1525,123,0 1 24228594 rs6669546 C G 724.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6669546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9942;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:753,69,0 1 24228618 rs6669556 C T 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6669556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.556;1000g2015aug_amr=0.8329;1000g2015aug_all=0.708466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 24228762 rs6662481 G C 593.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6662481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9942;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:622,63,0 1 24228863 rs6662584 G A 525.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6662584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9942;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:554,48,0 1 24229032 rs6672272 C A 774.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6672272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.9942;1000g2015aug_all=0.981829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:803,66,0 1 24229106 rs6677264 A G 1167.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6677264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9942;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1196,117,0 1 24229276 rs6680554 T C 628.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNR2;Func=intronic;Gene=NM_001841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374472.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.930954\x3bName\x3echr14:105248601;Repeat=.;avsnp150=rs6680554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.994;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.9582;1000g2015aug_all=0.902556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:657,57,0 1 24288404 rs3211051 A G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.36;MQRankSum=-1.383;QD=12.42;ReadPosRankSum=0.231;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePNRC2;Func=UTR3;Gene=NM_017761;GeneDetail=NM_017761:c.*37A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334351.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.988155\x3bName\x3echr1:117776534;Repeat=.;avsnp150=rs3211051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 24288432 rs7368202 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.53;MQRankSum=-1.282;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePNRC2;Func=UTR3;Gene=NM_017761;GeneDetail=NM_017761:c.*65C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334351.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.988155\x3bName\x3echr1:117776534;Repeat=.;avsnp150=rs7368202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.002;1000g2015aug_eur=0.007;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0043;1000g2015aug_all=0.0117812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 24294249 rs4276860 C T 1283.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=1.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=UTR3;Gene=NM_001191005,NM_001191006,NM_001300936,NM_054016;GeneDetail=NM_001191005:c.*3383G>A\x3bNM_001191006:c.*167G>A\x3bNM_001300936:c.*167G>A\x3bNM_054016:c.*3383G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484146.6,ENST00000344989.10,ENST00000453840.7,ENST00000374452.9,ENST00000374453.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e560\x3bName\x3e"51459:CR1_Mam(LINE)";avsnp150=rs4276860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.9885;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=0.5148;ExAC_AFR=0.25;ExAC_AMR=0.3676;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.7696;ExAC_OTH=0.8;ExAC_SAS=0.9762;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1312,120,0 1 24294362 rs9424411 A T 551.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.238;DP=50;ExcessHet=3.0103;FS=4.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.33;SOR=0.576;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=UTR3;Gene=NM_001191005,NM_001191006,NM_001300936,NM_054016;GeneDetail=NM_001191005:c.*3270T>A\x3bNM_001191006:c.*54T>A\x3bNM_001300936:c.*54T>A\x3bNM_054016:c.*3270T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484146.6,ENST00000453840.7,ENST00000344989.10,ENST00000374453.7,ENST00000374452.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e560\x3bName\x3e"51459:CR1_Mam(LINE)";avsnp150=rs9424411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0159;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:580,0,717 1 24294587 rs35233638 G A 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.567;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.38;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=UTR3;Gene=NM_001191005,NM_054016;GeneDetail=NM_001191005:c.*3045C>T\x3bNM_054016:c.*3045C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344989.10,ENST00000453840.7,ENST00000484146.6,ENST00000374453.7,ENST00000374452.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35233638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.6499;1000g2015aug_all=0.57508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:202,0,285 1 24294627 rs35973750 C T 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.4;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.469;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=UTR3;Gene=NM_001191005,NM_054016;GeneDetail=NM_001191005:c.*3005G>A\x3bNM_054016:c.*3005G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344989.10,ENST00000453840.7,ENST00000484146.6,ENST00000374453.7,ENST00000374452.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35973750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,154 1 24298263 rs3795304 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.464;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344989.10,ENST00000453840.7,ENST00000484146.6,ENST00000343255.9,ENST00000374453.7,ENST00000492112.2,ENST00000374452.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.909257\x3bName\x3echr14:57630178;Repeat=.;avsnp150=rs3795304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:180,0,106 1 24301685 rs4649146 C A 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.412;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.507;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343255.9,ENST00000344989.10,ENST00000453840.7,ENST00000484146.6,ENST00000492112.2,ENST00000374453.7,ENST00000374452.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:365,0,271 1 24301721 rs4649147 T C 475.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374452.9,ENST00000374453.7,ENST00000492112.2,ENST00000453840.7,ENST00000344989.10,ENST00000484146.6,ENST00000343255.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:504,39,0 1 24305397 rs142675257 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.618;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374453.7,ENST00000492112.2,ENST00000374452.9,ENST00000453840.7,ENST00000344989.10,ENST00000484146.6,ENST00000343255.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142675257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.593;1000g2015aug_amr=0.7421;1000g2015aug_all=0.644369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,180 1 24306410 rs9424412 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453840.7,ENST00000344989.10,ENST00000484146.6,ENST00000343255.9,ENST00000374452.9,ENST00000374453.7,ENST00000492112.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9424412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 24306518 rs61772996 G A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=2.189;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF10;Func=intronic;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374452.9,ENST00000492112.2,ENST00000374453.7,ENST00000343255.9,ENST00000453840.7,ENST00000344989.10,ENST00000484146.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61772996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 24307021 rs3806170 C A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.068;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001191005,NM_001191006,NM_001191007,NM_001191009,NM_001300936,NM_001300937,NM_006625,NM_054016;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,182 1 24383819 rs7540491 T C 1304.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=UTR3;Gene=NM_152372;GeneDetail=NM_152372:c.*35A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000338909.9,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.5303;1000g2015aug_amr=0.5663;1000g2015aug_all=0.692492;esp6500siv2_all=0.6776;ExAC_ALL=0.7056;ExAC_AFR=0.5737;ExAC_AMR=0.5871;ExAC_EAS=0.9547;ExAC_FIN=0.7257;ExAC_NFE=0.7138;ExAC_OTH=0.6905;ExAC_SAS=0.6916;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1333,108,0 1 24387822 rs7553075 T A 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.866;DP=51;ExcessHet=3.0103;FS=2.381;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.316;SOR=0.585;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000338909.9,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.17;1000g2015aug_all=0.385583;esp6500siv2_all=0.2917;ExAC_ALL=0.2885;ExAC_AFR=0.4872;ExAC_AMR=0.1978;ExAC_EAS=0.4224;ExAC_FIN=0.1944;ExAC_NFE=0.2297;ExAC_OTH=0.2815;ExAC_SAS=0.4348;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,21:51:99:527,0,762 1 24388024 rs12568259 T A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000338909.9,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4067;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.5446;1000g2015aug_amr=0.1758;1000g2015aug_all=0.38738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 24388371 rs4649168 T C 1942.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=1.692;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338909.9,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1922\x3bName\x3e"51729:AluJo(SINE)";avsnp150=rs4649168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9366;1000g2015aug_all=0.947883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1971,171,0 1 24388417 rs11811060 A G 1119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.129;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.757;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338909.9,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11811060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.1282;1000g2015aug_all=0.269369;esp6500siv2_all=0.1892;ExAC_ALL=0.2277;ExAC_AFR=0.2127;ExAC_AMR=0.1635;ExAC_EAS=0.4189;ExAC_FIN=0.1678;ExAC_NFE=0.1918;ExAC_OTH=0.2333;ExAC_SAS=0.3510;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,43:83:99:1148,0,1136 1 24388679 rs3795303 T C 659.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.206;DP=55;ExcessHet=3.0103;FS=6.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.211;SOR=1.667;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000338909.9,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.1455;1000g2015aug_all=0.336262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,22:54:99:688,0,996 1 24389213 rs4648931 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000338909.9,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.819;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.733;1000g2015aug_amr=0.8963;1000g2015aug_all=0.788938;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 24392600 rs6682222 G A 1157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.316;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.176;SOR=0.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338909.9,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.1599;1000g2015aug_all=0.279553;esp6500siv2_all=.;ExAC_ALL=0.2447;ExAC_AFR=0.4424;ExAC_AMR=0.2094;ExAC_EAS=0.2396;ExAC_FIN=0.1506;ExAC_NFE=0.1952;ExAC_OTH=0.2214;ExAC_SAS=0.3251;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,39:66:99:1186,0,758 1 24392671 rs6699525 T C 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.785;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.125;SOR=0.805;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000374434.3,ENST00000338909.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e284\x3bName\x3e"51737:L2b(LINE)";avsnp150=rs6699525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.1599;1000g2015aug_all=0.276158;esp6500siv2_all=.;ExAC_ALL=0.2584;ExAC_AFR=0.4336;ExAC_AMR=0.2009;ExAC_EAS=0.2516;ExAC_FIN=0.1365;ExAC_NFE=0.2111;ExAC_OTH=0.1913;ExAC_SAS=0.2981;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.46;FATHMM_pred=T;phyloP100way_vertebrate=-0.087;phyloP20way_mammalian=-0.019;SiPhy_29way_logOdds=9.511;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,25:53:99:640,0,791 1 24392796 rs10903076 C T 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.067;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=1.474;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000338909.9,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e284\x3bName\x3e"51737:L2b(LINE)";avsnp150=rs10903076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.2262;1000g2015aug_amr=0.1427;1000g2015aug_all=0.195487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:127,0,343 1 24393563 rs16829071 C T 1834.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.388;DP=142;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.785;SOR=0.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYOM3:NM_152372:exon28:c.G3371A:p.R1124Q;Gencode=Name\x3eENST00000439239.2,ENST00000374434.3,ENST00000429191.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16829071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.1599;1000g2015aug_all=0.280351;esp6500siv2_all=0.2099;ExAC_ALL=0.3076;ExAC_AFR=0.4715;ExAC_AMR=0.3078;ExAC_EAS=0.3267;ExAC_FIN=0.3458;ExAC_NFE=0.2557;ExAC_OTH=0.2724;ExAC_SAS=0.3271;SIFT_score=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.64;FATHMM_pred=T;phyloP100way_vertebrate=5.368;phyloP20way_mammalian=0.119;SiPhy_29way_logOdds=11.538;gerp++gt2=5.53;CADD=4.883;CADD_Phred=24.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,66:141:99:1863,0,2084 1 24393729 rs11249090 G A 747.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.817;DP=56;ExcessHet=3.0103;FS=3.701;MLEAC=1;MLEAF=0.5;MQ=59.15;MQRankSum=-1.842;QD=13.6;ReadPosRankSum=-0.826;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429191.1,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"51739:G-rich(Low_complexity)";avsnp150=rs11249090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.5802;1000g2015aug_amr=0.4899;1000g2015aug_all=0.554912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,26:55:99:776,0,876 1 24393803 rs143704264 T C 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.77;MQRankSum=-1.542;QD=19.12;ReadPosRankSum=0.224;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000374434.3,ENST00000429191.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs143704264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.1542;1000g2015aug_all=0.262979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:315,0,270 1 24393807 rs150168397 T C 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.53;MQRankSum=-1.426;QD=20.7;ReadPosRankSum=-0.374;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs150168397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.1643;1000g2015aug_all=0.26877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:318,0,228 1 24393811 rs138681647 T C 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.54;MQRankSum=-1.55;QD=22.8;ReadPosRankSum=-0.349;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs138681647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.1513;1000g2015aug_all=0.261981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:279,0,189 1 24393819 rs78487041 T C 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.08;MQRankSum=-1.383;QD=21.18;ReadPosRankSum=-1.026;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429191.1,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs78487041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.0893;1000g2015aug_all=0.161941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:240,0,150 1 24393823 rs866373260 T C 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.5;MQRankSum=-1.559;QD=18.86;ReadPosRankSum=-0.7;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs866373260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:198,0,153 1 24393827 . T C 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.78;MQRankSum=-1.803;QD=15.97;ReadPosRankSum=-0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:156,0,156 1 24393831 rs202156675 T C 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.54;MQRankSum=-1.96;QD=21.29;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429191.1,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs202156675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:156,0,156 1 24393835 rs12046232 T C 88.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.54;MQRankSum=-1.96;QD=14.79;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000429191.1,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e125\x3bName\x3e"51740:(TTTC)n(Simple_repeat)";avsnp150=rs12046232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:117,0,117 1 24394424 rs7542151 G A 887.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.439;DP=55;ExcessHet=3.0103;FS=2.258;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.404;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.1599;1000g2015aug_all=0.278954;esp6500siv2_all=0.2088;ExAC_ALL=0.1897;ExAC_AFR=0.3994;ExAC_AMR=0.1417;ExAC_EAS=0.1943;ExAC_FIN=0.1196;ExAC_NFE=0.1467;ExAC_OTH=0.1904;ExAC_SAS=0.2983;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,33:55:99:916,0,583 1 24394673 rs12125641 C T 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.955;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.914;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429191.1,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e26\x3bName\x3e"51742:(GCAGG)n(Simple_repeat)";avsnp150=rs12125641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.27;1000g2015aug_amr=0.147;1000g2015aug_all=0.220647;esp6500siv2_all=0.1603;ExAC_ALL=0.1753;ExAC_AFR=0.2382;ExAC_AMR=0.1321;ExAC_EAS=0.1952;ExAC_FIN=0.1195;ExAC_NFE=0.1462;ExAC_OTH=0.1862;ExAC_SAS=0.3010;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:59:59,0,197 1 24394811 rs12145360 A G 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.261;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.891;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYOM3:NM_152372:exon26:c.T3197C:p.I1066T;Gencode=Name\x3eENST00000439239.2,ENST00000429191.1,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.2262;1000g2015aug_amr=0.1427;1000g2015aug_all=0.196086;esp6500siv2_all=0.1487;ExAC_ALL=0.1636;ExAC_AFR=0.2013;ExAC_AMR=0.1276;ExAC_EAS=0.1941;ExAC_FIN=0.1193;ExAC_NFE=0.1445;ExAC_OTH=0.1633;ExAC_SAS=0.2456;SIFT_score=0.28;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.050;MutationTaster_pred=P;MutationAssessor_score=0.765;MutationAssessor_pred=N;FATHMM_score=3.65;FATHMM_pred=T;phyloP100way_vertebrate=4.828;phyloP20way_mammalian=0.187;SiPhy_29way_logOdds=9.561;gerp++gt2=4.69;CADD=2.448;CADD_Phred=19.13;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,20:37:99:486,0,451 1 24400430 rs6675170 A T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000374434.3,ENST00000429191.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e416\x3bName\x3e"51759:L2a(LINE)";avsnp150=rs6675170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9294;1000g2015aug_all=0.946286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 24400584 rs6660949 G C 1995.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.83;SOR=2.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000429191.1,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.9813;1000g2015aug_all=0.967252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2024,171,0 1 24400633 rs10903083 C G 3282.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.072;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3,ENST00000429191.1,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10903083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.9813;1000g2015aug_all=0.967252;esp6500siv2_all=0.9795;ExAC_ALL=0.9874;ExAC_AFR=0.9360;ExAC_AMR=0.9955;ExAC_EAS=0.9948;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=0.9889;ExAC_SAS=0.9558;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3311,309,0 1 24406885 rs4649176 C G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429191.1,ENST00000374434.3,ENST00000439239.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9841;1000g2015aug_amr=1;1000g2015aug_all=0.995807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 24409165 rs4320728 C T 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-4.041;DP=52;ExcessHet=3.0103;FS=5.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.597;SOR=0.243;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MYOM3:NM_152372:exon17:c.G2010A:p.E670E;Gencode=Name\x3eENST00000439239.2,ENST00000429191.1,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4320728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1398;1000g2015aug_all=0.184505;esp6500siv2_all=0.1374;ExAC_ALL=0.1593;ExAC_AFR=0.1781;ExAC_AMR=0.1253;ExAC_EAS=0.1917;ExAC_FIN=0.1178;ExAC_NFE=0.1404;ExAC_OTH=0.1618;ExAC_SAS=0.2491;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,31:52:99:762,0,691 1 24412885 rs4649180 A T 103.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439239.2,ENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.9813;1000g2015aug_all=0.96845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:131,12,0 1 24416059 rs4393101 T C 2816.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.94;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYOM3:NM_152372:exon14:c.A1583G:p.D528G;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4393101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9289;1000g2015aug_amr=0.9841;1000g2015aug_all=0.978834;esp6500siv2_all=0.9790;ExAC_ALL=0.9940;ExAC_AFR=0.9306;ExAC_AMR=0.9967;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-3.43;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;phyloP100way_vertebrate=4.714;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=14.151;gerp++gt2=5.29;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2845,249,0 1 24416133 rs4276859 C T 1348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.459;DP=127;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.562;SOR=0.596;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MYOM3:NM_152372:exon14:c.G1509A:p.P503P;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4276859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.1254;1000g2015aug_all=0.173922;esp6500siv2_all=0.1221;ExAC_ALL=0.2006;ExAC_AFR=0.2120;ExAC_AMR=0.2024;ExAC_EAS=0.2460;ExAC_FIN=0.2080;ExAC_NFE=0.1692;ExAC_OTH=0.2037;ExAC_SAS=0.2656;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,53:127:99:1377,0,2028 1 24416628 rs72648548 T C 1940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.581;DP=167;ExcessHet=3.0103;FS=1.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.357;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72648548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.111;1000g2015aug_all=0.0692891;esp6500siv2_all=0.0529;ExAC_ALL=0.0743;ExAC_AFR=0.0158;ExAC_AMR=0.0786;ExAC_EAS=0.0484;ExAC_FIN=0.0169;ExAC_NFE=0.0674;ExAC_OTH=0.0815;ExAC_SAS=0.1695;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,82:166:99:1969,0,1954 1 24416807 rs12042188 C T 1019.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.495;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.6744;1000g2015aug_all=0.557109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1048,81,0 1 24416950 rs12034626 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12034626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.3601;1000g2015aug_amr=0.3732;1000g2015aug_all=0.361022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 24417415 rs6700245 T C 1795.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.916;DP=153;ExcessHet=3.0103;FS=3.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.882;SOR=1.074;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=exonic;Gene=NM_152372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYOM3:NM_152372:exon12:c.A1304G:p.Q435R;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6700245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.239;1000g2015aug_amr=0.1311;1000g2015aug_all=0.169529;esp6500siv2_all=0.1728;ExAC_ALL=0.1634;ExAC_AFR=0.2135;ExAC_AMR=0.0822;ExAC_EAS=0.0035;ExAC_FIN=0.1503;ExAC_NFE=0.1668;ExAC_OTH=0.1704;ExAC_SAS=0.2655;SIFT_score=0.371;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_pred=B;LRT_score=0.074;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=P;MutationAssessor_score=0.105;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_pred=T;phyloP100way_vertebrate=1.813;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=3.636;gerp++gt2=3.03;CADD=1.257;CADD_Phred=12.05;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,72:152:99:1824,0,2164 1 24424241 rs3885698 T C 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.533;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.228;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3885698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.3588;1000g2015aug_all=0.410743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:281,0,399 1 24432810 rs4593753 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e421\x3bName\x3e"51830:MIRb(SINE)";avsnp150=rs4593753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9554;1000g2015aug_amr=1;1000g2015aug_all=0.988219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 24435434 rs4648933 C A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOM3;Func=intronic;Gene=NM_152372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374434.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e281\x3bName\x3e"51838:MIR3(SINE)";avsnp150=rs4648933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.2161;1000g2015aug_all=0.198083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 24447116 rs3795302 C T 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.142;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.357;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=UTR3;Gene=NM_021258;GeneDetail=NM_021258:c.*179G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.5504;1000g2015aug_all=0.486821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:231,0,448 1 24447214 rs3795300 G A 546.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.065;DP=65;ExcessHet=3.0103;FS=2.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.957;SOR=1.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=UTR3;Gene=NM_021258;GeneDetail=NM_021258:c.*81C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.795;1000g2015aug_amr=0.5706;1000g2015aug_all=0.717053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,22:65:99:575,0,1124 1 24447468 rs3795299 G C 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.086;DP=71;ExcessHet=3.0103;FS=0.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.093;SOR=0.585;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=exonic;Gene=NM_021258;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL22RA1:NM_021258:exon7:c.C1552G:p.R518G;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.4035;1000g2015aug_all=0.466254;esp6500siv2_all=0.3726;ExAC_ALL=0.4174;ExAC_AFR=0.3088;ExAC_AMR=0.4231;ExAC_EAS=0.6988;ExAC_FIN=0.3186;ExAC_NFE=0.3816;ExAC_OTH=0.3918;ExAC_SAS=0.5202;SIFT_score=0.257;SIFT_pred=T;Polyphen2_HDIV_score=0.178;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.039;Polyphen2_HVAR_pred=B;LRT_score=0.248;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=3.11;FATHMM_pred=T;phyloP100way_vertebrate=1.882;phyloP20way_mammalian=-0.304;SiPhy_29way_logOdds=11.300;gerp++gt2=4.24;CADD=2.946;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,40:71:99:1160,0,922 1 24448084 rs17852648 G A 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.261;DP=60;ExcessHet=3.0103;FS=1.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.966;SOR=0.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=exonic;Gene=NM_021258;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL22RA1:NM_021258:exon7:c.C936T:p.P312P;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17852648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.2219;1000g2015aug_all=0.205272;esp6500siv2_all=0.2368;ExAC_ALL=0.2915;ExAC_AFR=0.1131;ExAC_AMR=0.2265;ExAC_EAS=0.2929;ExAC_FIN=0.4815;ExAC_NFE=0.3325;ExAC_OTH=0.3109;ExAC_SAS=0.2051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,24:60:99:586,0,1085 1 24448371 rs4442319 T C 73.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=intronic;Gene=NM_021258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4442319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.7392;1000g2015aug_all=0.731629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:102,0,101 1 24450261 rs11249199 G A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=intronic;Gene=NM_021258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2129\x3bName\x3e"51871:MER115(DNA)";avsnp150=rs11249199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.334;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.2536;1000g2015aug_all=0.284145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,112 1 24460797 rs17852649 T G 1611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.848;DP=149;ExcessHet=3.0103;FS=3.867;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.286;SOR=1.01;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=exonic;Gene=NM_021258;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL22RA1:NM_021258:exon4:c.A435C:p.P145P;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17852649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.4625;1000g2015aug_all=0.523562;esp6500siv2_all=0.6332;ExAC_ALL=0.5715;ExAC_AFR=0.6933;ExAC_AMR=0.3874;ExAC_EAS=0.3207;ExAC_FIN=0.6353;ExAC_NFE=0.6206;ExAC_OTH=0.5940;ExAC_SAS=0.5289;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,63:149:99:1640,0,2176 1 24463404 rs4233051 G T 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=-1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=intronic;Gene=NM_021258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e633\x3bName\x3e"51910:L2a(LINE)";avsnp150=rs4233051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.3199;1000g2015aug_all=0.305911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:63:63,0,110 1 24465113 rs10903022 C T 1792.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.131;DP=125;ExcessHet=3.0103;FS=8.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.55;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=exonic;Gene=NM_021258;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL22RA1:NM_021258:exon2:c.G135A:p.P45P;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10903022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.261;1000g2015aug_amr=0.5231;1000g2015aug_all=0.470647;esp6500siv2_all=0.3443;ExAC_ALL=0.4218;ExAC_AFR=0.2723;ExAC_AMR=0.6095;ExAC_EAS=0.7316;ExAC_FIN=0.3558;ExAC_NFE=0.3667;ExAC_OTH=0.3894;ExAC_SAS=0.4733;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,63:124:99:1821,0,1562 1 24465309 rs10794642 C T 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.941;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.93;ReadPosRankSum=-0.51;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL22RA1;Func=intronic;Gene=NM_021258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270800.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10794642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.5231;1000g2015aug_all=0.471246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,13:17:84:486,0,84 1 24483455 rs7522997 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=UTR3;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=NM_170743:c.*165C>T\x3bNM_173064:c.*165C>T\x3bNM_173065:c.*862C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327535.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 24483491 rs7536412 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=UTR3;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=NM_170743:c.*129T>C\x3bNM_173064:c.*129T>C\x3bNM_173065:c.*826T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327535.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 24484441 rs946671 A G 1361.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=0.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374421.7,ENST00000327535.5,ENST00000327575.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1297\x3bName\x3e"51961:LTR16C(LTR)";avsnp150=rs946671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=0.9980;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1390,123,0 1 24485518 rs10751769 T C 1953.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=2.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374419.1,ENST00000374421.7,ENST00000327575.6,ENST00000327535.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10751769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.995807;esp6500siv2_all=0.9972;ExAC_ALL=0.9983;ExAC_AFR=0.9931;ExAC_AMR=0.9969;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9978;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1982,168,0 1 24485813 rs4649194 T C 1144.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.7;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327535.5,ENST00000327575.6,ENST00000374421.7,ENST00000374419.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e415\x3bName\x3e"51963:MIRb(SINE)";avsnp150=rs4649194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1173,87,0 1 24485941 rs4649195 T C 3867.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374421.7,ENST00000374419.1,ENST00000327535.5,ENST00000327575.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.6427;1000g2015aug_all=0.593251;esp6500siv2_all=0.6208;ExAC_ALL=0.6601;ExAC_AFR=0.4775;ExAC_AMR=0.6463;ExAC_EAS=0.5248;ExAC_FIN=0.7505;ExAC_NFE=0.6948;ExAC_OTH=0.7018;ExAC_SAS=0.6774;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3896,360,0 1 24487760 rs7552000 T C 587.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327575.6,ENST00000327535.5,ENST00000374419.1,ENST00000374421.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e250\x3bName\x3e"51970:L1ME4a(LINE)";avsnp150=rs7552000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:616,51,0 1 24495722 rs4649197 G A 384.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327575.6,ENST00000374418.3,ENST00000327535.5,ENST00000374419.1,ENST00000374421.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6342;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.572;1000g2015aug_all=0.701078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:413,33,0 1 24512055 rs4489498 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFNLR1;Func=intronic;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374419.1,ENST00000374421.7,ENST00000327575.6,ENST00000327535.5,ENST00000374418.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4489498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.9289;1000g2015aug_amr=0.9035;1000g2015aug_all=0.846046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 24513768 rs4090311 G A 159.79 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_170743,NM_173064,NM_173065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374419.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4090311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.8793;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.8559;1000g2015aug_all=0.838458;esp6500siv2_all=0.9403;ExAC_ALL=0.8840;ExAC_AFR=0.875;ExAC_AMR=0.8889;ExAC_EAS=0.7692;ExAC_FIN=1;ExAC_NFE=0.8885;ExAC_OTH=1;ExAC_SAS=0.9;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:23:188,23,0 1 24624609 rs4648966 C A 94.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.674;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027087,NM_198173;GeneDetail=dist\x3e86429\x3bdist\x3e21203;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4325;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.3256;1000g2015aug_all=0.354034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:123,0,24 1 24660916 rs61772766 C T 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=2.253;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRHL3;Func=intronic;Gene=NM_001195010,NM_021180,NM_198173,NM_198174;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361548.8,ENST00000356046.6,ENST00000350501.9,ENST00000236255.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2505\x3bName\x3e"52473:THE1C(LTR)";avsnp150=rs61772766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.17;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0840655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:100,0,245 1 24668667 rs11576645 C G 1812.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.172;DP=123;ExcessHet=3.0103;FS=1.425;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.599;SOR=0.837;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRHL3;Func=exonic;Gene=NM_001195010,NM_021180,NM_198173,NM_198174;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GRHL3:NM_001195010:exon9:c.C972G:p.V324V,GRHL3:NM_021180:exon9:c.C1125G:p.V375V,GRHL3:NM_198173:exon9:c.C1110G:p.V370V,GRHL3:NM_198174:exon9:c.C1110G:p.V370V;Gencode=Name\x3eENST00000361548.8,ENST00000356046.6,ENST00000236255.4,ENST00000350501.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.1527;1000g2015aug_all=0.157748;esp6500siv2_all=0.1819;ExAC_ALL=0.1974;ExAC_AFR=0.0918;ExAC_AMR=0.1635;ExAC_EAS=0.1217;ExAC_FIN=0.2201;ExAC_NFE=0.2199;ExAC_OTH=0.1837;ExAC_SAS=0.2295;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,66:123:99:1841,0,1521 1 24687653 rs532147 T C 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.81;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.351;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTPG1,GRHL3;Func=intronic;Gene=NM_001199012,NM_001199013,NM_001199014,NM_178122,NM_198174;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350501.9,ENST00000374409.5,ENST00000337248.8,ENST00000003583.12;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.7997;1000g2015aug_all=0.790335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,12:29:99:414,0,565 1 24690414 rs542969 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTPG1,GRHL3;Func=intronic;Gene=NM_001199012,NM_001199013,NM_001199014,NM_178122,NM_198174;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374409.5,ENST00000350501.9,ENST00000337248.8,ENST00000003583.12;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs542969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.7651;1000g2015aug_all=0.761382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 24690764 rs545809 T A 1363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.113;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.042;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRHL3,STPG1;Func=exonic;Gene=NM_198174;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GRHL3:NM_198174:exon16:c.T1784A:p.M595K;Gencode=Name\x3eENST00000337248.8,ENST00000003583.12,ENST00000350501.9,ENST00000374409.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs545809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.2305;1000g2015aug_all=0.298922;esp6500siv2_all=.;ExAC_ALL=0.3173;ExAC_AFR=0.2011;ExAC_AMR=0.2466;ExAC_EAS=0.4367;ExAC_FIN=0.2213;ExAC_NFE=0.2885;ExAC_OTH=0.3204;ExAC_SAS=0.3665;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.215;MutationAssessor_pred=M;FATHMM_score=2.94;FATHMM_pred=T;phyloP100way_vertebrate=-0.294;phyloP20way_mammalian=0.368;SiPhy_29way_logOdds=0.388;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,50:96:99:1392,0,1253 1 24718079 rs560219 C A 449.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.939;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.203;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTPG1;Func=exonic;Gene=NM_001199012,NM_001199013;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=STPG1:NM_001199012:exon3:c.G161T:p.S54I,STPG1:NM_001199013:exon3:c.G161T:p.S54I;Gencode=Name\x3eENST00000374409.5,ENST00000337248.8,ENST00000003583.12;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs560219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.2248;1000g2015aug_all=0.234225;esp6500siv2_all=.;ExAC_ALL=0.2336;ExAC_AFR=0.1962;ExAC_AMR=0.2534;ExAC_EAS=0.3354;ExAC_FIN=0.1967;ExAC_NFE=0.2369;ExAC_OTH=0.1942;ExAC_SAS=0.2375;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.015;MutationTaster_pred=P;MutationAssessor_score=3.07;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.411;phyloP20way_mammalian=0.008;SiPhy_29way_logOdds=11.868;gerp++gt2=4.47;CADD=4.544;CADD_Phred=24.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:478,0,751 1 24727678 rs2078445 C T 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.114;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTPG1;Func=intronic;Gene=NM_001199012,NM_001199013,NM_001199014,NM_178122;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374409.5,ENST00000337248.8,ENST00000003583.12;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2078445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.6902;1000g2015aug_all=0.722843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:137,0,263 1 24768778 rs4648863 G C 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.229;DP=30;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.544;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=intronic;Gene=NM_001322854,NM_001322855,NM_001322856,NM_001322857,NM_001322858,NM_001322859,NM_001322860,NM_001322861,NM_001322862,NM_001322863,NM_001322864,NM_001322865,NM_001322866,NM_001322868,NM_001330409,NM_020448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374399.8,ENST00000339255.2,ENST00000003912.7,ENST00000358028.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.7536;1000g2015aug_all=0.735024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:417,0,515 1 24775967 rs4648989 G A 1291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.359;DP=130;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.488;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=intronic;Gene=NM_001322854,NM_001322855,NM_001322856,NM_001322857,NM_001322858,NM_001322859,NM_001322860,NM_001322861,NM_001322862,NM_001322863,NM_001322864,NM_001322865,NM_001322866,NM_001322868,NM_001330409,NM_020448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374399.8,ENST00000339255.2,ENST00000358028.8,ENST00000003912.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1614;1000g2015aug_all=0.172125;esp6500siv2_all=0.1734;ExAC_ALL=0.2090;ExAC_AFR=0.0741;ExAC_AMR=0.1731;ExAC_EAS=0.2921;ExAC_FIN=0.1891;ExAC_NFE=0.2329;ExAC_OTH=0.2148;ExAC_SAS=0.1868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:78,52:130:99:1320,0,2241 1 24779873 rs1883462 C T 823.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.252;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.243;SOR=0.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=intronic;Gene=NM_001322854,NM_001322855,NM_001322856,NM_001322857,NM_001322858,NM_001322859,NM_001322860,NM_001322861,NM_001322862,NM_001322863,NM_001322864,NM_001322865,NM_001322866,NM_001322868,NM_001330409,NM_020448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339255.2,ENST00000358028.8,ENST00000003912.7,ENST00000374399.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.2695;1000g2015aug_all=0.292532;esp6500siv2_all=0.3356;ExAC_ALL=0.3252;ExAC_AFR=0.3161;ExAC_AMR=0.2385;ExAC_EAS=0.3045;ExAC_FIN=0.3887;ExAC_NFE=0.3558;ExAC_OTH=0.3487;ExAC_SAS=0.2522;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,28:49:99:852,0,662 1 24780356 rs11249117 C A 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.613;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.368;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=intronic;Gene=NM_001322854,NM_001322855,NM_001322856,NM_001322857,NM_001322858,NM_001322859,NM_001322860,NM_001322861,NM_001322862,NM_001322863,NM_001322864,NM_001322865,NM_001322866,NM_001322868,NM_001330409,NM_020448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374399.8,ENST00000339255.2,ENST00000003912.7,ENST00000358028.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11249117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1571;1000g2015aug_all=0.164936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:255,0,251 1 24784197 rs195718 T C 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.797;DP=42;ExcessHet=3.0103;FS=1.351;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.646;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=intronic;Gene=NM_001322854,NM_001322855,NM_001322856,NM_001322857,NM_001322858,NM_001322859,NM_001322860,NM_001322861,NM_001322862,NM_001322863,NM_001322864,NM_001322866,NM_001322868,NM_001330409,NM_020448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374399.8,ENST00000003912.7,ENST00000339255.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e667\x3bName\x3e"52763:MIR(SINE)";avsnp150=rs195718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.507;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.6412;1000g2015aug_all=0.566893;esp6500siv2_all=0.5010;ExAC_ALL=0.5445;ExAC_AFR=0.5354;ExAC_AMR=0.6821;ExAC_EAS=0.7584;ExAC_FIN=0.4636;ExAC_NFE=0.5165;ExAC_OTH=0.5321;ExAC_SAS=0.4841;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,26:42:99:721,0,474 1 24792617 rs195725 T A 445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.449;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.507;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIPAL3;Func=UTR3;Gene=NM_001330409;GeneDetail=NM_001330409:c.*38T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374399.8,ENST00000339255.2,ENST00000003912.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e802\x3bName\x3e"52784:MER90a(LTR)";avsnp150=rs195725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7312;1000g2015aug_sas=0.544;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7089;1000g2015aug_all=0.646166;esp6500siv2_all=0.6041;ExAC_ALL=0.6348;ExAC_AFR=0.6377;ExAC_AMR=0.6992;ExAC_EAS=0.7305;ExAC_FIN=0.6327;ExAC_NFE=0.6291;ExAC_OTH=0.6374;ExAC_SAS=0.5754;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:474,0,658 1 24840768 rs196403 G A 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.111;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.17;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=intronic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251981,NM_001251983,NM_001251984,NM_013441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538532.5,ENST00000616511.4,ENST00000610732.4,ENST00000436717.6,ENST00000374395.8,ENST00000425530.3,ENST00000618490.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs196403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.502;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.464;1000g2015aug_all=0.661542;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:255,0,247 1 24855821 rs196417 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=intronic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251980,NM_001251981,NM_001251982,NM_001251983,NM_001251984,NM_001251985,NM_013441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538532.5,ENST00000616511.4,ENST00000610732.4,ENST00000436717.6,ENST00000412742.5,ENST00000374395.8,ENST00000425530.3,ENST00000630217.1,ENST00000374393.4,ENST00000618490.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1551\x3bName\x3e"52967:AluJo(SINE)";avsnp150=rs196417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.4366;1000g2015aug_all=0.583866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24855841 rs196418 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=intronic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251980,NM_001251981,NM_001251982,NM_001251983,NM_001251984,NM_001251985,NM_013441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630217.1,ENST00000374393.4,ENST00000618490.4,ENST00000425530.3,ENST00000436717.6,ENST00000610732.4,ENST00000412742.5,ENST00000374395.8,ENST00000538532.5,ENST00000616511.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1551\x3bName\x3e"52967:AluJo(SINE)";avsnp150=rs196418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.4366;1000g2015aug_all=0.583866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24859617 rs196429 G A 306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.05;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.176;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=exonic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251980,NM_001251981,NM_001251983,NM_001251984,NM_013441;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RCAN3:NM_001251980:exon3:c.G384A:p.P128P,RCAN3:NM_001251981:exon3:c.G240A:p.P80P,RCAN3:NM_001251983:exon3:c.G39A:p.P13P,RCAN3:NM_001251984:exon3:c.G39A:p.P13P,RCAN3:NM_001251977:exon4:c.G414A:p.P138P,RCAN3:NM_001251978:exon4:c.G414A:p.P138P,RCAN3:NM_001251979:exon4:c.G414A:p.P138P,RCAN3:NM_013441:exon4:c.G414A:p.P138P;Gencode=Name\x3eENST00000425530.3,ENST00000630217.1,ENST00000374393.4,ENST00000618490.4,ENST00000616511.4,ENST00000538532.5,ENST00000610732.4,ENST00000436717.6,ENST00000374395.8,ENST00000412742.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs196429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.3314;1000g2015aug_all=0.383586;esp6500siv2_all=0.3016;ExAC_ALL=0.3597;ExAC_AFR=0.2613;ExAC_AMR=0.3410;ExAC_EAS=0.6500;ExAC_FIN=0.328;ExAC_NFE=0.3373;ExAC_OTH=0.3455;ExAC_SAS=0.3895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:335,0,126 1 24859665 rs196430 G A 505.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.602;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=-2.213;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=exonic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251980,NM_001251981,NM_001251983,NM_001251984,NM_013441;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RCAN3:NM_001251980:exon3:c.G432A:p.P144P,RCAN3:NM_001251981:exon3:c.G288A:p.P96P,RCAN3:NM_001251983:exon3:c.G87A:p.P29P,RCAN3:NM_001251984:exon3:c.G87A:p.P29P,RCAN3:NM_001251977:exon4:c.G462A:p.P154P,RCAN3:NM_001251978:exon4:c.G462A:p.P154P,RCAN3:NM_001251979:exon4:c.G462A:p.P154P,RCAN3:NM_013441:exon4:c.G462A:p.P154P;Gencode=Name\x3eENST00000425530.3,ENST00000630217.1,ENST00000374393.4,ENST00000618490.4,ENST00000538532.5,ENST00000616511.4,ENST00000610732.4,ENST00000436717.6,ENST00000412742.5,ENST00000374395.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs196430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.3314;1000g2015aug_all=0.383586;esp6500siv2_all=0.3018;ExAC_ALL=0.3552;ExAC_AFR=0.2603;ExAC_AMR=0.3417;ExAC_EAS=0.6501;ExAC_FIN=0.3245;ExAC_NFE=0.3346;ExAC_OTH=0.3456;ExAC_SAS=0.3659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,20:28:99:534,0,149 1 24861704 rs196432 G A 620.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.267;DP=67;ExcessHet=3.0103;FS=8.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.633;SOR=1.457;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCAN3;Func=exonic;Gene=NM_001251977,NM_001251978,NM_001251979,NM_001251980,NM_001251981,NM_001251982,NM_001251983,NM_001251984,NM_001251985,NM_013441;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q;Gencode=Name\x3eENST00000374395.8,ENST00000412742.5,ENST00000436717.6,ENST00000610732.4,ENST00000616511.4,ENST00000538532.5,ENST00000618490.4,ENST00000374393.4,ENST00000630217.1,ENST00000425530.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs196432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.4667;1000g2015aug_amr=0.4006;1000g2015aug_all=0.509185;esp6500siv2_all=0.4622;ExAC_ALL=0.4822;ExAC_AFR=0.4614;ExAC_AMR=0.3865;ExAC_EAS=0.7088;ExAC_FIN=0.5061;ExAC_NFE=0.4726;ExAC_OTH=0.4525;ExAC_SAS=0.4742;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-3.514;phyloP20way_mammalian=-2.227;SiPhy_29way_logOdds=9.401;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,27:67:99:649,0,1034 1 24890858 rs12405728 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2403\x3bName\x3e"53049:AluSx1(SINE)";avsnp150=rs12405728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.289;1000g2015aug_amr=0.1542;1000g2015aug_all=0.133586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24890883 rs12406505 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2403\x3bName\x3e"53049:AluSx1(SINE)";avsnp150=rs12406505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.453;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.6138;1000g2015aug_all=0.509784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 24902554 rs12132966 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.136;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.0951;1000g2015aug_all=0.125799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 24922129 rs10903095 G A 955.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.531;DP=65;ExcessHet=3.0103;FS=4.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.013;SOR=0.222;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e340\x3bName\x3e"53148:MIR(SINE)";avsnp150=rs10903095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.2839;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,33:65:99:984,0,973 1 24927561 rs4553122 T C 1344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.594;DP=120;ExcessHet=3.0103;FS=0.683;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.066;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4553122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.5113;1000g2015aug_amr=0.5245;1000g2015aug_all=0.551917;esp6500siv2_all=0.5430;ExAC_ALL=0.5617;ExAC_AFR=0.5280;ExAC_AMR=0.5746;ExAC_EAS=0.6190;ExAC_FIN=0.5642;ExAC_NFE=0.5496;ExAC_OTH=0.5463;ExAC_SAS=0.5929;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,58:120:99:1373,0,1601 1 24927625 rs4378146 C A 1059.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.121;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.229;SOR=0.703;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCMAP;Func=intronic;Gene=NM_001010980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374392.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4378146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.1441;1000g2015aug_all=0.194489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,39:84:99:1088,0,1206 1 24989762 rs4649011 G T 1052.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRRM1;Func=intronic;Gene=NM_001303448,NM_001303449,NM_005839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374389.8,ENST00000323848.13,ENST00000447431.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9827;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=0.9866;ExAC_AFR=0.9962;ExAC_AMR=0.9764;ExAC_EAS=1;ExAC_FIN=0.9871;ExAC_NFE=0.9789;ExAC_OTH=0.9854;ExAC_SAS=0.9907;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1081,99,0 1 25098245 rs9332415 T C 833.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLIC4;Func=intronic;Gene=NM_013943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374379.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9332415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.544;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.6974;1000g2015aug_all=0.541334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:862,72,0 1 25098341 rs7548438 C T 2390.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLIC4;Func=intronic;Gene=NM_013943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374379.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.544;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.6974;1000g2015aug_all=0.541334;esp6500siv2_all=0.6167;ExAC_ALL=0.6422;ExAC_AFR=0.4319;ExAC_AMR=0.7042;ExAC_EAS=0.5154;ExAC_FIN=0.7188;ExAC_NFE=0.6973;ExAC_OTH=0.6905;ExAC_SAS=0.5263;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2419,231,0 1 25153692 rs4649022 G A 761.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLIC4;Func=intronic;Gene=NM_013943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374379.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.9885;1000g2015aug_all=0.975639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:71:790,71,0 1 25176055 rs11249179 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013943,NM_004350;GeneDetail=dist\x3e5240\x3bdist\x3e49947;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e44\x3bName\x3e"53840:(TCC)n(Simple_repeat)";avsnp150=rs11249179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9885;1000g2015aug_all=0.974241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 25234062 rs34878696 T G 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.412;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=1.952;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672,NM_004350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338888.3,ENST00000308873.10,ENST00000399916.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34878696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.363;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.4856;1000g2015aug_all=0.494209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:298,0,206 1 25238631 rs6699680 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672,NM_004350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338888.3,ENST00000308873.10,ENST00000399916.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.4971;1000g2015aug_all=0.55611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 25254317 rs7517302 C T 58.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.337;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0.68;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672,NM_004350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000399916.5,ENST00000308873.10,ENST00000338888.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.444;1000g2015aug_amr=0.5778;1000g2015aug_all=0.545128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:87:87,0,424 1 25258301 rs4649037 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000399916.5,ENST00000338888.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.5764;1000g2015aug_all=0.549321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 25286151 rs4648888 C T 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338888.3,ENST00000399916.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4648888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.5552;1000g2015aug_amr=0.7579;1000g2015aug_all=0.66873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 25286156 . A T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=intronic;Gene=NM_001031680,NM_001320672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338888.3,ENST00000399916.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 25291010 rs6672420 A T 1847.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=1.318;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUNX3;Func=exonic;Gene=NM_001031680,NM_001320672;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RUNX3:NM_001031680:exon1:c.T53A:p.I18N,RUNX3:NM_001320672:exon2:c.T53A:p.I18N;Gencode=Name\x3eENST00000399916.5,ENST00000338888.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.719;1000g2015aug_all=0.577676;esp6500siv2_all=0.4635;ExAC_ALL=0.5703;ExAC_AFR=0.4606;ExAC_AMR=0.7847;ExAC_EAS=0.7180;ExAC_FIN=0.5685;ExAC_NFE=0.4982;ExAC_OTH=0.6003;ExAC_SAS=0.6853;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.414;LRT_pred=N;MutationTaster_score=0.783;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-4.2;FATHMM_pred=D;phyloP100way_vertebrate=5.815;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=12.316;gerp++gt2=5.67;CADD=3.109;CADD_Phred=22.5;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:1876,197,0 1 25322777 rs10794668 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e31276\x3bdist\x3e27217;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10794668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.7839;1000g2015aug_all=0.684105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25322808 rs9438881 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e31307\x3bdist\x3e27186;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.889;1000g2015aug_all=0.854633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25322811 rs9438882 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e31310\x3bdist\x3e27183;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.889;1000g2015aug_all=0.854832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25322839 rs9438883 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e31338\x3bdist\x3e27155;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.772;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.8833;1000g2015aug_all=0.850839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 25344187 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e52686\x3bdist\x3e5807;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25344196 rs10903127 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320672,NR_039623;GeneDetail=dist\x3e52695\x3bdist\x3e5798;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10903127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.455;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.3242;1000g2015aug_all=0.457069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25369576 rs374999 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e19499\x3bdist\x3e179191;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4576\x3bName\x3e"54300:MER52A(LTR)";avsnp150=rs374999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8926;1000g2015aug_amr=0.9063;1000g2015aug_all=0.877796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 25381385 rs9438887 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e31308\x3bdist\x3e167382;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.636;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.3833;1000g2015aug_all=0.561302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25381526 rs12075549 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e31449\x3bdist\x3e167241;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12075549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.454;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.6254;1000g2015aug_all=0.598442;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25398075 rs7550919 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e47998\x3bdist\x3e150692;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e288\x3bName\x3e"54364:MIRc(SINE)";avsnp150=rs7550919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.4409;1000g2015aug_all=0.616214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25398093 rs7534992 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e48016\x3bdist\x3e150674;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e288\x3bName\x3e"54364:MIRc(SINE)";avsnp150=rs7534992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.4164;1000g2015aug_all=0.553514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 25407334 rs186335 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e57257\x3bdist\x3e141433;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1045\x3bName\x3e"54390:MLT1I(LTR)";avsnp150=rs186335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.2133;1000g2015aug_all=0.284145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 25415503 rs311476 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e65426\x3bdist\x3e133264;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e630\x3bName\x3e"54409:L2a(LINE)";avsnp150=rs311476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.8108;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.9035;1000g2015aug_all=0.899361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25415523 rs311475 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e65446\x3bdist\x3e133244;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e630\x3bName\x3e"54409:L2a(LINE)";avsnp150=rs311475;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.4524;1000g2015aug_all=0.626398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25419403 rs311463 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e69326\x3bdist\x3e129364;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs311463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8977;1000g2015aug_all=0.895367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25419442 rs311464 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039623,NM_207170;GeneDetail=dist\x3e69365\x3bdist\x3e129325;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424084.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs311464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.8977;1000g2015aug_all=0.895767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 25570081 rs1043879 T C 375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.387;DP=26;ExcessHet=3.0103;FS=3.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.489;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRSRP1;Func=exonic;Gene=NM_001321772,NM_020317;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RSRP1:NM_001321772:exon4:c.A716G:p.E239G,RSRP1:NM_020317:exon4:c.A716G:p.E239G;Gencode=Name\x3eENST00000243189.11;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eErythrocyte_sedimentation_rate;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.2089;1000g2015aug_all=0.107827;esp6500siv2_all=0.1955;ExAC_ALL=0.1996;ExAC_AFR=0.0465;ExAC_AMR=0.1331;ExAC_EAS=0.0240;ExAC_FIN=0.2628;ExAC_NFE=0.2731;ExAC_OTH=0.2274;ExAC_SAS=0.1111;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.087;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.290;LRT_pred=N;MutationTaster_score=0.921;MutationTaster_pred=P;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_pred=T;phyloP100way_vertebrate=1.992;phyloP20way_mammalian=1.011;SiPhy_29way_logOdds=8.521;gerp++gt2=3.97;CADD=2.968;CADD_Phred=22.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:404,0,320 1 25584950 rs139111376 T C 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001321772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2103\x3bName\x3e"54847:AluSg(SINE)";avsnp150=rs139111376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0211661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 25584976 rs9438901 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001321772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.9213;1000g2015aug_eur=0.8549;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.8977;1000g2015aug_all=0.91853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 25611035 rs2301153 G C 3225.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.99;QD=32.26;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHD;Func=intronic;Gene=NM_001127691,NM_001282867,NM_001282868,NM_001282869,NM_001282870,NM_001282871,NM_001282872,NM_001321772,NM_016124;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328664.8,ENST00000423810.6,ENST00000417538.6,ENST00000568195.5,ENST00000615607.1,ENST00000357542.8,ENST00000622561.4,ENST00000342055.9,ENST00000454452.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25362422;Repeat=.;avsnp150=rs2301153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.67;1000g2015aug_all=0.622404;esp6500siv2_all=0.5623;ExAC_ALL=0.7422;ExAC_AFR=0.2403;ExAC_AMR=0.6974;ExAC_EAS=0.7785;ExAC_FIN=0.7809;ExAC_NFE=0.7906;ExAC_OTH=0.75;ExAC_SAS=0.8706;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3254,300,0 1 25617399 rs28521909 T C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.57;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHD;Func=intronic;Gene=NM_001127691,NM_001282867,NM_001282868,NM_001282869,NM_001282870,NM_001282871,NM_001282872,NM_001321772,NM_016124;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423810.6,ENST00000417538.6,ENST00000328664.8,ENST00000357542.8,ENST00000568195.5,ENST00000615607.1,ENST00000342055.9,ENST00000454452.6,ENST00000622561.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25362422;Repeat=Score\x3e1105\x3bName\x3e"54948:AluJr(SINE)";avsnp150=rs28521909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.8444;1000g2015aug_all=0.805911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 25617406 rs28562109 G A 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHD;Func=intronic;Gene=NM_001127691,NM_001282867,NM_001282868,NM_001282869,NM_001282870,NM_001282871,NM_001282872,NM_001321772,NM_016124;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357542.8,ENST00000568195.5,ENST00000615607.1,ENST00000423810.6,ENST00000417538.6,ENST00000328664.8,ENST00000342055.9,ENST00000454452.6,ENST00000622561.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25362422;Repeat=Score\x3e1105\x3bName\x3e"54948:AluJr(SINE)";avsnp150=rs28562109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.6271;1000g2015aug_amr=0.8401;1000g2015aug_all=0.801917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 25628396 rs28510210 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHD;Func=intronic;Gene=NM_001127691,NM_001282867,NM_001282868,NM_001282869,NM_001282870,NM_001282871,NM_001282872,NM_001321772,NM_016124;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454452.6,ENST00000342055.9,ENST00000622561.4,ENST00000357542.8,ENST00000615607.1,ENST00000568195.5,ENST00000417538.6,ENST00000423810.6,ENST00000328664.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25362422;Repeat=.;avsnp150=rs28510210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.8855;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.7003;1000g2015aug_all=0.708466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 25676935 rs3091240 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM50A;Func=intronic;Gene=NM_014313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374358.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2162\x3bName\x3e"55124:AluSp(SINE)";avsnp150=rs3091240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.318;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.202;1000g2015aug_amr=0.4352;1000g2015aug_all=0.334465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 25677013 rs3093610 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM50A;Func=intronic;Gene=NM_014313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374358.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2162\x3bName\x3e"55124:AluSp(SINE)";avsnp150=rs3093610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.9957;1000g2015aug_all=0.99361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 25678238 rs3093616 T A 1733.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM50A;Func=intronic;Gene=NM_014313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374358.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3093616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.9726;1000g2015aug_all=0.932708;esp6500siv2_all=0.9413;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1762,156,0 1 25717139 rs636889 C T 809.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.012;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.5;MQRankSum=1.365;QD=13.5;ReadPosRankSum=-0.866;SOR=0.454;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHCE;Func=intronic;Gene=NM_001330430,NM_020485,NM_138616,NM_138617,NM_138618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000349320.7,ENST00000349438.8,ENST00000294413.11,ENST00000413854.5,ENST00000374352.6,ENST00000243186.10,ENST00000340849.8,ENST00000346452.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25268024;Repeat=.;avsnp150=rs636889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.4784;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,26:60:99:838,0,1140 1 25728930 rs28631635 G T 87.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.502;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.2;MQRankSum=-2.771;QD=6.75;ReadPosRankSum=-0.293;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHCE;Func=intronic;Gene=NM_001330430,NM_020485,NM_138616,NM_138617,NM_138618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374352.6,ENST00000294413.11,ENST00000413854.5,ENST00000349320.7,ENST00000349438.8,ENST00000346452.8,ENST00000340849.8,ENST00000243186.10;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25268024;Repeat=Score\x3e1079\x3bName\x3e"55279:AluJr(SINE)";avsnp150=rs28631635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.4957;1000g2015aug_all=0.528754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:116,0,313 1 25747230 rs586178 G C 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.91;DP=68;ExcessHet=3.0103;FS=10.66;MLEAC=1;MLEAF=0.5;MQ=46.36;MQRankSum=-6.176;QD=7.16;ReadPosRankSum=-0.236;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHCE;Func=exonic;Gene=NM_001330430,NM_020485,NM_138616,NM_138617,NM_138618;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RHCE:NM_001330430:exon1:c.C48G:p.C16W,RHCE:NM_020485:exon1:c.C48G:p.C16W,RHCE:NM_138616:exon1:c.C48G:p.C16W,RHCE:NM_138617:exon1:c.C48G:p.C16W,RHCE:NM_138618:exon1:c.C48G:p.C16W;Gencode=Name\x3eENST00000349320.7,ENST00000349438.8,ENST00000374352.6,ENST00000294413.11,ENST00000413854.5,ENST00000243186.10,ENST00000346452.8,ENST00000340849.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25268024;Repeat=.;avsnp150=rs586178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.4481;1000g2015aug_all=0.398962;esp6500siv2_all=.;ExAC_ALL=0.3982;ExAC_AFR=0.3944;ExAC_AMR=0.3250;ExAC_EAS=0.2242;ExAC_FIN=0.4824;ExAC_NFE=0.4531;ExAC_OTH=0.3990;ExAC_SAS=0.3017;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.624;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.26;FATHMM_pred=T;phyloP100way_vertebrate=-0.607;phyloP20way_mammalian=-0.492;SiPhy_29way_logOdds=3.072;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,20:68:99:515,0,1361 1 25747399 rs2072931 G T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=48.96;MQRankSum=-1.63;QD=6.89;ReadPosRankSum=-0.361;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001330430,NM_020485,NM_138616,NM_138617,NM_138618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000349320.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.979086\x3bName\x3echr1:25268024;Repeat=.;avsnp150=rs2072931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.32;1000g2015aug_eur=0.5408;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.4193;1000g2015aug_all=0.323482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:104,0,249 1 25780668 rs34006994 C T 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.075;DP=31;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.008;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374343.4,ENST00000399766.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34006994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.177;1000g2015aug_amr=0.5115;1000g2015aug_all=0.496406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:351,0,439 1 25780893 rs61775167 A G 62.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.022;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=-0.272;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000399766.7,ENST00000374343.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e44\x3bName\x3e"55417:(TG)n(Simple_repeat)";avsnp150=rs61775167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.5115;1000g2015aug_all=0.498403;esp6500siv2_all=.;ExAC_ALL=0.5016;ExAC_AFR=0.2332;ExAC_AMR=0.5653;ExAC_EAS=0.7262;ExAC_FIN=0.4678;ExAC_NFE=0.4694;ExAC_OTH=0.5126;ExAC_SAS=0.6591;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:91:91,0,292 1 25783066 rs35497030 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374343.4,ENST00000399766.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35497030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.5029;1000g2015aug_all=0.471046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 25785451 rs35530120 A G 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.554;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.75;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374343.4,ENST00000399766.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35530120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.18;1000g2015aug_amr=0.5115;1000g2015aug_all=0.497204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:309,0,404 1 25810416 rs61775192 A G 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=0.751;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000399766.7,ENST00000374343.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61775192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.5173;1000g2015aug_all=0.514776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:222,0,98 1 25817705 rs35343405 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM57;Func=intronic;Gene=NM_001282564,NM_018202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374343.4,ENST00000399766.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35343405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.5447;1000g2015aug_all=0.592252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 25870018 rs61776820 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9831;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 25889422 rs12096438 C T 1433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.086;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.181;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.3154;1000g2015aug_amr=0.5101;1000g2015aug_all=0.433107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,47:102:99:1462,0,1572 1 25889632 rs6687605 T C 724.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.661;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.086;SOR=0.771;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=exonic;Gene=NM_015627;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LDLRAP1:NM_015627:exon6:c.T604C:p.S202P;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687605;cosmic70=.;CLNALLELEID=280227;CLNDN=Familial_hypercholesterolemia|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.5101;1000g2015aug_all=0.434904;esp6500siv2_all=0.4693;ExAC_ALL=0.5011;ExAC_AFR=0.3527;ExAC_AMR=0.5547;ExAC_EAS=0.4507;ExAC_FIN=0.5026;ExAC_NFE=0.5376;ExAC_OTH=0.5223;ExAC_SAS=0.4334;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.079;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.252;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.755;MutationAssessor_pred=L;FATHMM_score=0.36;FATHMM_pred=T;phyloP100way_vertebrate=-0.666;phyloP20way_mammalian=-2.495;SiPhy_29way_logOdds=2.213;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,29:83:99:753,0,1450 1 25889672 rs6688931 G A 466.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.089;DP=60;ExcessHet=3.0103;FS=2.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.198;SOR=0.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.494;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.4928;1000g2015aug_all=0.416534;esp6500siv2_all=0.4467;ExAC_ALL=0.4817;ExAC_AFR=0.3147;ExAC_AMR=0.5414;ExAC_EAS=0.4495;ExAC_FIN=0.4721;ExAC_NFE=0.5138;ExAC_OTH=0.4977;ExAC_SAS=0.4325;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,21:59:99:495,0,1136 1 25889917 rs6701596 T C 143.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.5259;1000g2015aug_all=0.451078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:172,0,218 1 25890050 rs6661159 A G 1253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.08;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.799;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.5202;1000g2015aug_all=0.439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,42:76:99:1282,0,975 1 25890189 rs28969504 A G 2832.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.94;DP=206;ExcessHet=3.0103;FS=2.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.326;SOR=0.543;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=exonic;Gene=NM_015627;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LDLRAP1:NM_015627:exon7:c.A654G:p.T218T;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28969504;cosmic70=.;CLNALLELEID=280604;CLNDN=Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1863512,OMIM:603813|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.453;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.829;1000g2015aug_amr=0.5951;1000g2015aug_all=0.586262;esp6500siv2_all=0.6322;ExAC_ALL=0.5515;ExAC_AFR=0.7906;ExAC_AMR=0.5881;ExAC_EAS=0.4524;ExAC_FIN=0.5021;ExAC_NFE=0.5497;ExAC_OTH=0.5682;ExAC_SAS=0.4533;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:96,110:206:99:2861,0,2481 1 25890247 rs41291058 C T 2451.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.386;DP=173;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.108;SOR=0.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=exonic;Gene=NM_015627;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LDLRAP1:NM_015627:exon7:c.C712T:p.R238W;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41291058;cosmic70=.;CLNALLELEID=281930;CLNDN=Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_recessive|not_specified|not_provided;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1863512,OMIM:603813|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0527;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0159744;esp6500siv2_all=0.0363;ExAC_ALL=0.0356;ExAC_AFR=0.0088;ExAC_AMR=0.0165;ExAC_EAS=0;ExAC_FIN=0.0422;ExAC_NFE=0.0546;ExAC_OTH=0.0336;ExAC_SAS=0.0059;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.8;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.44;MutationAssessor_pred=M;FATHMM_score=0.33;FATHMM_pred=T;phyloP100way_vertebrate=-0.248;phyloP20way_mammalian=0.036;SiPhy_29way_logOdds=13.460;gerp++gt2=.;CADD=3.086;CADD_Phred=22.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,89:173:99:2480,0,2157 1 25891174 rs3856239 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.4722;1000g2015aug_afr=0.6762;1000g2015aug_amr=0.4784;1000g2015aug_all=0.560703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 25891959 rs56214942 G A 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.94;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56214942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.5386;1000g2015aug_amr=0.4683;1000g2015aug_all=0.521965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:120,0,30 1 25891971 rs11799800 C T 104.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11799800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.4769;1000g2015aug_all=0.552316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:132,9,0 1 25892525 rs3856240 T C 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.4798;1000g2015aug_all=0.557508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:64,0,30 1 25893221 rs4523506 G T 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.483;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-1.106;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4523506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.4722;1000g2015aug_afr=0.708;1000g2015aug_amr=0.4798;1000g2015aug_all=0.569489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,22:39:99:721,0,512 1 25893242 rs4418583 T C 1113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.7;ReadPosRankSum=-1.388;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4418583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.503;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.5014;1000g2015aug_all=0.588059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,28:47:99:1142,0,1157 1 25893243 rs4603124 G A 1113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.051;DP=49;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.73;ReadPosRankSum=-1.18;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLDLRAP1;Func=intronic;Gene=NM_015627;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374338.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4603124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.4193;1000g2015aug_all=0.416334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,29:49:99:1142,0,1157 1 26073443 rs2786876 T C 591.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611903.4,ENST00000374332.8,ENST00000263979.7,ENST00000374329.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"56082:MIR(SINE)";avsnp150=rs2786876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.9629;1000g2015aug_amr=0.8588;1000g2015aug_all=0.891573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:620,45,0 1 26076062 rs760602 C G 678.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.7;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374329.1,ENST00000263979.7,ENST00000374332.8,ENST00000611903.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs760602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.745;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.5692;1000g2015aug_all=0.598842;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:707,51,0 1 26090072 rs807270 A G 1384.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263979.7,ENST00000374329.1,ENST00000611903.4,ENST00000374332.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs807270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.966;1000g2015aug_amr=0.889;1000g2015aug_all=0.910144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1413,138,0 1 26098107 rs2072747 G A 1843.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=1.342;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374329.1,ENST00000263979.7,ENST00000374332.8,ENST00000611903.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.3759;1000g2015aug_amr=0.5735;1000g2015aug_all=0.599042;esp6500siv2_all=0.5627;ExAC_ALL=0.6340;ExAC_AFR=0.4013;ExAC_AMR=0.6249;ExAC_EAS=0.7615;ExAC_FIN=0.6117;ExAC_NFE=0.6388;ExAC_OTH=0.6839;ExAC_SAS=0.7080;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1872,171,0 1 26098333 rs807264 G A 1452.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611903.4,ENST00000374332.8,ENST00000263979.7,ENST00000374329.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs807264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.8818;1000g2015aug_all=0.884784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1481,123,0 1 26104973 rs1007108 G A 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.783;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611903.4,ENST00000374332.8,ENST00000374329.1,ENST00000263979.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1007108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0749;1000g2015aug_all=0.172125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:312,0,438 1 26107321 rs807274 A C 387.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374329.1,ENST00000263979.7,ENST00000611903.4,ENST00000374332.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs807274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.966;1000g2015aug_amr=0.8862;1000g2015aug_all=0.908746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:416,30,0 1 26107688 rs807273 C A 6318.77 PASS AC=2;AF=1;AN=2;DP=194;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=1.161;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374332.8,ENST00000611903.4,ENST00000263979.7,ENST00000374329.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs807273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.864;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.8689;1000g2015aug_all=0.870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,194:194:99:6347,580,0 1 26109237 rs12567324 A G 969.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611903.4,ENST00000374332.8,ENST00000263979.7,ENST00000374329.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12567324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.5865;1000g2015aug_all=0.633586;esp6500siv2_all=0.5949;ExAC_ALL=0.6250;ExAC_AFR=0.5225;ExAC_AMR=0.6141;ExAC_EAS=0.7316;ExAC_FIN=0.5924;ExAC_NFE=0.6127;ExAC_OTH=0.6713;ExAC_SAS=0.7032;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:998,81,0 1 26109307 rs2072746 G C 231.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374329.1,ENST00000263979.7,ENST00000611903.4,ENST00000374332.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7312;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.5865;1000g2015aug_all=0.633786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:260,21,0 1 26110065 rs3820514 A G 1620.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=1.702;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263979.7,ENST00000374329.1,ENST00000611903.4,ENST00000374332.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7312;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.5648;1000g2015aug_all=0.582867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1649,153,0 1 26110143 rs3767877 G A 2867.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1C1;Func=intronic;Gene=NM_001289010,NM_020379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263979.7,ENST00000374329.1,ENST00000374332.8,ENST00000611903.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.5865;1000g2015aug_all=0.642173;esp6500siv2_all=0.6055;ExAC_ALL=0.6336;ExAC_AFR=0.5516;ExAC_AMR=0.6211;ExAC_EAS=0.7377;ExAC_FIN=0.5991;ExAC_NFE=0.6201;ExAC_OTH=0.6755;ExAC_SAS=0.7056;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2896,264,0 1 26127425 rs6659086 G A 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.74;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.623;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374315.1,ENST00000361547.6,ENST00000354177.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.7233;1000g2015aug_all=0.689497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,28:55:99:856,0,856 1 26128307 rs10902683 C T 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.751;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=2.515;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354177.8,ENST00000374315.1,ENST00000361547.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e620\x3bName\x3e"56199:MIR(SINE)";avsnp150=rs10902683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.915;1000g2015aug_all=0.924121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:64:189,0,64 1 26131654 rs7349185 G A 644.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=2.323;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=exonic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000354177.8,ENST00000374315.1,ENST00000361547.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7349185;cosmic70=.;CLNALLELEID=101859;CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.8919;1000g2015aug_all=0.841853;esp6500siv2_all=.;ExAC_ALL=0.8144;ExAC_AFR=0.7804;ExAC_AMR=0.9150;ExAC_EAS=0.9416;ExAC_FIN=0.7282;ExAC_NFE=0.7777;ExAC_OTH=0.8158;ExAC_SAS=0.8805;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.68;FATHMM_pred=T;phyloP100way_vertebrate=0.869;phyloP20way_mammalian=0.241;SiPhy_29way_logOdds=0.970;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,26:58:99:673,0,856 1 26136452 rs6686366 A C 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.003;SOR=0.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354177.8,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.6354;1000g2015aug_amr=0.8689;1000g2015aug_all=0.817492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:223,0,597 1 26138136 rs760598 C A 729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.112;DP=57;ExcessHet=3.0103;FS=8.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.533;SOR=1.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354177.8,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs760598;cosmic70=.;CLNALLELEID=249869;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.8343;1000g2015aug_all=0.747005;esp6500siv2_all=0.6848;ExAC_ALL=0.7861;ExAC_AFR=0.4765;ExAC_AMR=0.8925;ExAC_EAS=0.9645;ExAC_FIN=0.7543;ExAC_NFE=0.7686;ExAC_OTH=0.8025;ExAC_SAS=0.8786;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,23:56:99:758,0,1028 1 26138262 rs760597 T C 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.232;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=1.025;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=exonic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000354177.8,ENST00000374315.1,ENST00000361547.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs760597;cosmic70=.;CLNALLELEID=101852;CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.5575;1000g2015aug_amr=0.8516;1000g2015aug_all=0.791933;esp6500siv2_all=0.7372;ExAC_ALL=0.8132;ExAC_AFR=0.6368;ExAC_AMR=0.9016;ExAC_EAS=0.9641;ExAC_FIN=0.7717;ExAC_NFE=0.7917;ExAC_OTH=0.8045;ExAC_SAS=0.8825;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,13:35:99:285,0,631 1 26139137 rs10902685 C T 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.199;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=0.209;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354177.8,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10902685;cosmic70=.;CLNALLELEID=249873;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.8285;1000g2015aug_all=0.697684;esp6500siv2_all=0.6371;ExAC_ALL=0.7944;ExAC_AFR=0.3388;ExAC_AMR=0.9000;ExAC_EAS=0.9663;ExAC_FIN=0.7738;ExAC_NFE=0.7923;ExAC_OTH=0.8223;ExAC_SAS=0.8834;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,15:24:99:486,0,270 1 26139392 rs3738451 A G 933.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.664;DP=54;ExcessHet=3.0103;FS=1.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-1.173;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630065.2,ENST00000354177.8,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.8501;1000g2015aug_all=0.795327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,31:54:99:962,0,582 1 26139444 rs10751726 G A 414.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.351;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.37;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354177.8,ENST00000630065.2,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e520\x3bName\x3e"56222:MIRc(SINE)";avsnp150=rs10751726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.8228;1000g2015aug_all=0.694688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,17:33:99:443,0,399 1 26139879 rs6676413 C G 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.129;DP=26;ExcessHet=3.0103;FS=5.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-1.292;SOR=0.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630065.2,ENST00000354177.8,ENST00000361547.6,ENST00000374315.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e661\x3bName\x3e"56224:L2b(LINE)";avsnp150=rs6676413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.8401;1000g2015aug_all=0.751198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,16:26:99:486,0,340 1 26139919 rs6676509 C T 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.43;DP=42;ExcessHet=3.0103;FS=9.615;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.509;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374315.1,ENST00000361547.6,ENST00000630065.2,ENST00000354177.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e661\x3bName\x3e"56224:L2b(LINE)";avsnp150=rs6676509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.4213;1000g2015aug_amr=0.8429;1000g2015aug_all=0.754792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:626,0,593 1 26140573 rs2294228 C A 1076.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.905;DP=85;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.957;SOR=0.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=exonic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000630065.2,ENST00000354177.8,ENST00000527604.1,ENST00000374315.1,ENST00000361547.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294228;cosmic70=.;CLNALLELEID=101855;CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.8285;1000g2015aug_all=0.697484;esp6500siv2_all=0.6319;ExAC_ALL=0.7747;ExAC_AFR=0.2938;ExAC_AMR=0.8902;ExAC_EAS=0.9643;ExAC_FIN=0.7486;ExAC_NFE=0.7769;ExAC_OTH=0.7964;ExAC_SAS=0.8804;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.054;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.525;MutationAssessor_pred=L;FATHMM_score=-2.36;FATHMM_pred=D;phyloP100way_vertebrate=0.140;phyloP20way_mammalian=0.023;SiPhy_29way_logOdds=7.686;gerp++gt2=2.58;CADD=2.958;CADD_Phred=22.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,43:85:99:1105,0,1161 1 26141803 rs12121793 G T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEPN1;Func=intronic;Gene=NM_020451,NM_206926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527604.1,ENST00000374315.1,ENST00000361547.6,ENST00000630065.2,ENST00000354177.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.264;1000g2015aug_amr=0.8285;1000g2015aug_all=0.708466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 26146539 rs2223224 A C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTFR1L,LOC646471;Func=ncRNA_exonic;Gene=NR_024498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000474295.5,ENST00000374307.9,ENST00000524618.5,ENST00000374303.6,ENST00000536896.2,ENST00000527604.1,ENST00000526894.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2223224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.8761;1000g2015aug_all=0.86242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 26146884 rs984412 C G 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.714;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.231;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC646471,MTFR1L;Func=ncRNA_exonic;Gene=NR_024498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526894.5,ENST00000527604.1,ENST00000536896.2,ENST00000374303.6,ENST00000374301.7,ENST00000524618.5,ENST00000374307.9,ENST00000474295.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs984412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.853;1000g2015aug_all=0.792532;esp6500siv2_all=.;ExAC_ALL=0.8496;ExAC_AFR=0.6649;ExAC_AMR=0.8;ExAC_EAS=0.9923;ExAC_FIN=.;ExAC_NFE=0.7833;ExAC_OTH=0.8051;ExAC_SAS=0.8770;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:352,0,369 1 26150023 rs11247758 C T 928.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.813;DP=63;ExcessHet=3.0103;FS=5.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.736;SOR=1.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTFR1L,LOC646471;Func=ncRNA_exonic;Gene=NR_024498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374300.7,ENST00000374303.6,ENST00000374301.7,ENST00000524618.5,ENST00000526894.5,ENST00000527604.1,ENST00000474295.5,ENST00000466284.1,ENST00000374307.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.4327;1000g2015aug_amr=0.8444;1000g2015aug_all=0.756789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,31:63:99:957,0,936 1 26152666 rs6598923 T C 327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.311;DP=26;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.489;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTFR1L;Func=intronic;Gene=NM_001099625,NM_001099626,NM_001099627,NM_019557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526894.5,ENST00000374301.7,ENST00000524618.5,ENST00000374300.7,ENST00000374303.6,ENST00000374307.9,ENST00000466284.1,ENST00000474295.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6598923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.8689;1000g2015aug_all=0.839856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:356,0,495 1 26152758 rs6598924 A G 844.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.638;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.93;SOR=0.658;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTFR1L;Func=intronic;Gene=NM_001099625,NM_001099626,NM_001099627,NM_019557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000474295.5,ENST00000466284.1,ENST00000374307.9,ENST00000524618.5,ENST00000374301.7,ENST00000374300.7,ENST00000374303.6,ENST00000526894.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6598924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.8761;1000g2015aug_all=0.86222;esp6500siv2_all=0.8035;ExAC_ALL=0.8264;ExAC_AFR=0.8289;ExAC_AMR=0.9132;ExAC_EAS=0.9763;ExAC_FIN=0.7562;ExAC_NFE=0.7834;ExAC_OTH=0.8207;ExAC_SAS=0.8876;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,38:96:99:873,0,1543 1 26158337 rs1961580 C T 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.023;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTFR1L;Func=intronic;Gene=NM_001099625,NM_001099626,NM_001099627,NM_019557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374307.9,ENST00000466284.1,ENST00000474295.5,ENST00000374301.7,ENST00000524618.5,ENST00000374300.7,ENST00000374303.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e863\x3bName\x3e"56249:MIR(SINE)";avsnp150=rs1961580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.8761;1000g2015aug_all=0.86222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:268,0,315 1 26228409 rs159531 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTMN1;Func=intronic;Gene=NM_001145454,NM_005563,NM_203399,NM_203401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426559.6,ENST00000399728.5,ENST00000374291.5,ENST00000357865.6,ENST00000455785.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2240\x3bName\x3e"56433:AluSx1(SINE)";avsnp150=rs159531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.863;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.8112;1000g2015aug_all=0.832268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26232356 rs213641 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTMN1;Func=UTR5;Gene=NM_203401;GeneDetail=NM_203401:c.-1189G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426559.6,ENST00000399728.5,ENST00000357865.6,ENST00000455785.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs213641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.771;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.7147;1000g2015aug_all=0.707668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 26314564 rs2245979 T C 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.558;DP=31;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.084;SOR=0.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAFAH2;Func=intronic;Gene=NM_000437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374282.7,ENST00000374284.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2245979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.8262;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.8818;1000g2015aug_all=0.805112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:506,0,452 1 26314625 rs2257255 G A 1079.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.077;DP=81;ExcessHet=3.0103;FS=3.215;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.172;SOR=1.118;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAFAH2;Func=intronic;Gene=NM_000437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374284.5,ENST00000374282.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2257255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.0836;1000g2015aug_all=0.117612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,41:81:99:1108,0,1004 1 26317383 rs2992056 G A 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.07;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-1.72;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAFAH2;Func=intronic;Gene=NM_000437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374284.5,ENST00000374282.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.3464;1000g2015aug_amr=0.1888;1000g2015aug_all=0.228435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,13:34:99:358,0,573 1 26332671 rs72664071 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000437,NM_004455;GeneDetail=dist\x3e8023\x3bdist\x3e15600;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72664071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.0836;1000g2015aug_all=0.118011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 26357656 rs2736831 C A 738.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.506;DP=65;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.497;SOR=0.972;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL1;Func=exonic;Gene=NM_004455;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXTL1:NM_004455:exon5:c.C1135A:p.H379N;Gencode=Name\x3eENST00000374280.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2736831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.732;1000g2015aug_all=0.594249;esp6500siv2_all=0.5466;ExAC_ALL=0.6742;ExAC_AFR=0.2742;ExAC_AMR=0.7677;ExAC_EAS=0.7315;ExAC_FIN=0.8157;ExAC_NFE=0.6854;ExAC_OTH=0.7192;ExAC_SAS=0.7263;SIFT_score=0.083;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.019;LRT_pred=N;MutationTaster_score=0.557;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=-3.54;FATHMM_pred=D;phyloP100way_vertebrate=1.364;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=16.601;gerp++gt2=4.7;CADD=3.943;CADD_Phred=23.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,31:64:99:767,0,948 1 26357667 rs11247848 G A 848.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.391;DP=63;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.028;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL1;Func=exonic;Gene=NM_004455;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EXTL1:NM_004455:exon5:c.G1146A:p.L382L;Gencode=Name\x3eENST00000374280.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.1484;1000g2015aug_all=0.149361;esp6500siv2_all=0.1886;ExAC_ALL=0.1731;ExAC_AFR=0.1569;ExAC_AMR=0.1591;ExAC_EAS=0.1987;ExAC_FIN=0.1385;ExAC_NFE=0.1988;ExAC_OTH=0.1523;ExAC_SAS=0.0912;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,31:62:99:877,0,790 1 26357855 rs2802321 A G 1190.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL1;Func=intronic;Gene=NM_004455;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374280.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1219,108,0 1 26362001 rs6665062 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.18;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL1;Func=UTR3;Gene=NM_004455;GeneDetail=NM_004455:c.*163C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374280.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.085;1000g2015aug_all=0.0932508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 26365374 rs4659404 T G 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.782;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.974;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=UTR3;Gene=NM_001004434,NM_032513;GeneDetail=NM_001004434:c.*277A>C\x3bNM_032513:c.*277A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.7334;1000g2015aug_all=0.591254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,11:33:99:294,0,679 1 26365549 rs2997452 C T 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.995;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.809;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=UTR3;Gene=NM_001004434,NM_032513;GeneDetail=NM_001004434:c.*102G>A\x3bNM_032513:c.*102G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374276.3,ENST00000374278.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2997452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.8055;1000g2015aug_all=0.700479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,32:61:99:837,0,811 1 26368554 rs2186234 G C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.95;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374276.3,ENST00000374278.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e438\x3bName\x3e"56845:MIRb(SINE)";avsnp150=rs2186234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.889;1000g2015aug_all=0.776158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 26368787 rs6686468 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e446\x3bName\x3e"56846:MIRb(SINE)";avsnp150=rs6686468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.7968;1000g2015aug_all=0.65655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 26369297 rs2997451 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2997451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8313;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.9323;1000g2015aug_all=0.872204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 26370164 rs11585142 G A 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.207;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.342;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.7911;1000g2015aug_all=0.652356;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,210 1 26371788 rs3121763 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.8948;1000g2015aug_all=0.811901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 26372144 rs6686190 A G 1460.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=3.312;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=intronic;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374278.7,ENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.9265;1000g2015aug_all=0.865815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1489,123,0 1 26372605 rs6672177 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A2;Func=UTR5;Gene=NM_001004434,NM_032513;GeneDetail=NM_001004434:c.-218C>G\x3bNM_032513:c.-218C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374276.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.8948;1000g2015aug_all=0.808706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 26372804 rs6692237 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001004434,NM_032513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6692237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.9352;1000g2015aug_all=0.894169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26383875 rs2275947 A G 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.357;DP=28;ExcessHet=3.0103;FS=5.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=0.186;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.1499;1000g2015aug_all=0.260783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,21:28:99:610,0,203 1 26384013 rs12059101 A G 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.722;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.801;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.1052;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:325,0,251 1 26384690 rs1317709 T G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e710\x3bName\x3e"56885:MIRc(SINE)";avsnp150=rs1317709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.1772;1000g2015aug_all=0.227835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:29:63,0,29 1 26385003 rs2275950 T C 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.134;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.91;SOR=0.679;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=exonic;Gene=NM_032588;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRIM63:NM_032588:exon5:c.A709G:p.K237E;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.267;1000g2015aug_amr=0.1239;1000g2015aug_all=0.182308;esp6500siv2_all=0.2350;ExAC_ALL=0.1921;ExAC_AFR=0.2706;ExAC_AMR=0.0851;ExAC_EAS=0.1937;ExAC_FIN=0.1959;ExAC_NFE=0.2195;ExAC_OTH=0.1652;ExAC_SAS=0.1062;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.805;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;phyloP100way_vertebrate=2.284;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=14.221;gerp++gt2=5.5;CADD=1.211;CADD_Phred=11.80;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,51:96:99:1389,0,1049 1 26385150 rs2275949 G C 1553.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.186;DP=89;ExcessHet=3.0103;FS=4.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-2.644;SOR=1.217;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.1138;1000g2015aug_all=0.156749;esp6500siv2_all=0.2086;ExAC_ALL=0.1867;ExAC_AFR=0.1936;ExAC_AMR=0.0817;ExAC_EAS=0.1938;ExAC_FIN=0.1960;ExAC_NFE=0.2201;ExAC_OTH=0.1663;ExAC_SAS=0.1097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,59:89:99:1582,0,747 1 26387625 rs41311276 A C 1036.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.843;DP=65;ExcessHet=3.0103;FS=2.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-0.245;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41311276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.0965;1000g2015aug_all=0.11881;esp6500siv2_all=0.1790;ExAC_ALL=0.1507;ExAC_AFR=0.1842;ExAC_AMR=0.0757;ExAC_EAS=0.0416;ExAC_FIN=0.1561;ExAC_NFE=0.1856;ExAC_OTH=0.1401;ExAC_SAS=0.0929;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,37:65:99:1065,0,814 1 26392535 rs17257086 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM63;Func=intronic;Gene=NM_032588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374272.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17257086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.0937;1000g2015aug_all=0.104633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 26398594 rs6677054 T G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032588,NM_001243532;GeneDetail=dist\x3e4469\x3bdist\x3e39062;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"56926:(T)n(Simple_repeat)";avsnp150=rs6677054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.7565;1000g2015aug_all=0.609225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 26440718 rs56134135 A T 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.8;DP=41;ExcessHet=3.0103;FS=1.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-1.489;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDIK1L;Func=intronic;Gene=NM_001243532,NM_001243533,NM_152835;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374269.1,ENST00000619836.4,ENST00000374271.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56134135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.1052;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,15:41:99:402,0,712 1 26448447 rs17257107 A G 700.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.375;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.43;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDIK1L;Func=exonic;Gene=NM_001243532,NM_001243533,NM_152835;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PDIK1L:NM_001243532:exon3:c.A405G:p.K135K,PDIK1L:NM_152835:exon3:c.A405G:p.K135K,PDIK1L:NM_001243533:exon4:c.A405G:p.K135K;Gencode=Name\x3eENST00000374269.1,ENST00000374271.8,ENST00000619836.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17257107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1052;1000g2015aug_all=0.117212;esp6500siv2_all=0.1868;ExAC_ALL=0.1456;ExAC_AFR=0.1967;ExAC_AMR=0.0796;ExAC_EAS=0.0209;ExAC_FIN=0.1556;ExAC_NFE=0.1816;ExAC_OTH=0.1366;ExAC_SAS=0.0762;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,32:66:99:729,0,881 1 26448849 rs17356867 T C 937.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.019;DP=75;ExcessHet=3.0103;FS=4.425;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.905;SOR=0.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDIK1L;Func=exonic;Gene=NM_001243532,NM_001243533,NM_152835;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PDIK1L:NM_001243532:exon3:c.T807C:p.Y269Y,PDIK1L:NM_152835:exon3:c.T807C:p.Y269Y,PDIK1L:NM_001243533:exon4:c.T807C:p.Y269Y;Gencode=Name\x3eENST00000374271.8,ENST00000619836.4,ENST00000374269.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17356867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1052;1000g2015aug_all=0.117212;esp6500siv2_all=0.1868;ExAC_ALL=0.1457;ExAC_AFR=0.1972;ExAC_AMR=0.0797;ExAC_EAS=0.0209;ExAC_FIN=0.1556;ExAC_NFE=0.1818;ExAC_OTH=0.1369;ExAC_SAS=0.0762;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,34:75:99:966,0,1215 1 26496383 rs2232647 G T 333.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.155;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.564;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_015871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374266.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.0418;1000g2015aug_all=0.061901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:362,0,320 1 26496651 rs7087 T C 653.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.019;DP=52;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.203;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF593;Func=exonic;Gene=NM_015871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZNF593:NM_015871:exon1:c.T177C:p.G59G;Gencode=Name\x3eENST00000270812.5,ENST00000374266.5,ENST00000407889.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.5504;1000g2015aug_all=0.534744;esp6500siv2_all=0.3691;ExAC_ALL=0.4912;ExAC_AFR=0.6395;ExAC_AMR=0.6806;ExAC_EAS=0.6932;ExAC_FIN=0.3940;ExAC_NFE=0.4023;ExAC_OTH=0.4375;ExAC_SAS=0.4970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:682,0,843 1 26496870 rs2232654 A G 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.497;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.33;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF593;Func=intronic;Gene=NM_015871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270812.5,ENST00000433939.5,ENST00000407889.6,ENST00000374266.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.348;1000g2015aug_amr=0.5259;1000g2015aug_all=0.460863;esp6500siv2_all=0.3296;ExAC_ALL=0.3859;ExAC_AFR=0.3677;ExAC_AMR=0.6004;ExAC_EAS=0.6559;ExAC_FIN=0.2817;ExAC_NFE=0.3032;ExAC_OTH=0.3555;ExAC_SAS=0.4910;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,12:22:99:400,0,340 1 26497340 rs8768 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF593;Func=UTR3;Gene=NM_015871;GeneDetail=NM_015871:c.*133A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270812.5,ENST00000433939.5,ENST00000407889.6,ENST00000374266.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.8559;1000g2015aug_all=0.840855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 26504036 rs17356937 G A 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.511;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=UTR5;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=NM_001297647:c.-3G>A\x3bNM_001297648:c.-6205G>A\x3bNM_006314:c.-3G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374253.9,ENST00000361530.10;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17356937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0998403;esp6500siv2_all=0.1806;ExAC_ALL=0.1542;ExAC_AFR=0.1499;ExAC_AMR=0.0842;ExAC_EAS=0.0124;ExAC_FIN=0.1596;ExAC_NFE=0.1985;ExAC_OTH=0.1591;ExAC_SAS=0.0994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:578,0,551 1 26504196 rs2783707 C G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=intronic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361530.10,ENST00000374253.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2178\x3bName\x3e"57249:AluSx1(SINE)";avsnp150=rs2783707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.5504;1000g2015aug_all=0.535343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 26508538 rs114806650 C T 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.073;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=2.024;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=intronic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361530.10,ENST00000374253.9,ENST00000531191.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114806650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,25:45:99:799,0,698 1 26510336 rs115982258 C T 724.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.285;DP=38;ExcessHet=3.0103;FS=2.695;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-2.55;SOR=0.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=intronic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361530.10,ENST00000531191.5,ENST00000374253.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115982258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.0793;1000g2015aug_all=0.100639;esp6500siv2_all=0.1000;ExAC_ALL=0.1546;ExAC_AFR=0.0367;ExAC_AMR=0.0669;ExAC_EAS=0.1054;ExAC_FIN=0.1439;ExAC_NFE=0.1708;ExAC_OTH=0.1721;ExAC_SAS=0.2413;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,26:38:99:753,0,339 1 26511139 rs2297711 G A 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.999;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=0.301;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=intronic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361530.10,ENST00000531191.5,ENST00000374253.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.025;1000g2015aug_amr=0.0994;1000g2015aug_all=0.113219;esp6500siv2_all=0.1191;ExAC_ALL=0.1813;ExAC_AFR=0.0405;ExAC_AMR=0.1062;ExAC_EAS=0.1117;ExAC_FIN=0.1840;ExAC_NFE=0.2033;ExAC_OTH=0.1983;ExAC_SAS=0.2372;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,6:24:99:178,0,543 1 26511700 rs2783680 A G 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.247;DP=38;ExcessHet=3.0103;FS=2.826;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.228;SOR=1.222;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=intronic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531191.5,ENST00000374253.9,ENST00000361530.10;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2783680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.7767;1000g2015aug_all=0.710863;esp6500siv2_all=0.5693;ExAC_ALL=0.6954;ExAC_AFR=0.5125;ExAC_AMR=0.7657;ExAC_EAS=0.9680;ExAC_FIN=0.6452;ExAC_NFE=0.6007;ExAC_OTH=0.7012;ExAC_SAS=0.7836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,18:38:99:536,0,483 1 26515956 rs1045105 C A 1119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.412;DP=121;ExcessHet=3.0103;FS=2.389;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.503;SOR=0.944;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNKSR1;Func=exonic;Gene=NM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CNKSR1:NM_001297647:exon21:c.C2080A:p.H694N,CNKSR1:NM_001297648:exon21:c.C1285A:p.H429N,CNKSR1:NM_006314:exon21:c.C2059A:p.H687N;Gencode=Name\x3eENST00000531191.5,ENST00000374253.9,ENST00000361530.10;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1045105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.0821;1000g2015aug_all=0.118011;esp6500siv2_all=0.1189;ExAC_ALL=0.1330;ExAC_AFR=0.0815;ExAC_AMR=0.0561;ExAC_EAS=0.0862;ExAC_FIN=0.1183;ExAC_NFE=0.1420;ExAC_OTH=0.1372;ExAC_SAS=0.2131;SIFT_score=0.58;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.413;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=-0.086;phyloP20way_mammalian=0.068;SiPhy_29way_logOdds=6.990;gerp++gt2=2.77;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,46:121:99:1148,0,2071 1 26516845 rs4659411 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_198137\x3bNM_001297647,NM_001297648,NM_006314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7153;1000g2015aug_sas=0.773;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.6138;1000g2015aug_all=0.587859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 26517267 rs41284333 A G 1224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.112;DP=87;ExcessHet=3.0103;FS=0.867;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=1.202;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CATSPER4:NM_198137:exon1:c.A149G:p.H50R;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41284333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0089;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.0908;1000g2015aug_all=0.123203;esp6500siv2_all=0.2006;ExAC_ALL=0.1620;ExAC_AFR=0.2371;ExAC_AMR=0.0893;ExAC_EAS=0.0135;ExAC_FIN=0.1728;ExAC_NFE=0.1978;ExAC_OTH=0.1583;ExAC_SAS=0.0924;SIFT_score=0.144;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.347;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.095;MutationAssessor_pred=L;FATHMM_score=-4.31;FATHMM_pred=D;phyloP100way_vertebrate=0.728;phyloP20way_mammalian=0.211;SiPhy_29way_logOdds=1.925;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,42:87:99:1253,0,1083 1 26517667 rs11247864 T C 978.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.438;1000g2015aug_amr=0.281;1000g2015aug_all=0.295527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1007,87,0 1 26517773 rs11247865 T C 1056.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.894;DP=61;ExcessHet=3.0103;FS=0.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-0.787;SOR=0.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0089;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.267;1000g2015aug_amr=0.0994;1000g2015aug_all=0.134984;esp6500siv2_all=0.2086;ExAC_ALL=0.1596;ExAC_AFR=0.2636;ExAC_AMR=0.0876;ExAC_EAS=0.0127;ExAC_FIN=0.1586;ExAC_NFE=0.1929;ExAC_OTH=0.1520;ExAC_SAS=0.0873;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:1085,0,1894 1 26517794 rs11247866 A G 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.814;DP=62;ExcessHet=3.0103;FS=2.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-2.632;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CATSPER4:NM_198137:exon2:c.A230G:p.Q77R;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.0893;1000g2015aug_all=0.122005;esp6500siv2_all=0.2000;ExAC_ALL=0.1547;ExAC_AFR=0.2216;ExAC_AMR=0.0841;ExAC_EAS=0.0129;ExAC_FIN=0.1562;ExAC_NFE=0.1918;ExAC_OTH=0.1541;ExAC_SAS=0.0857;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.799;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.343;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.882;MutationTaster_pred=P;MutationAssessor_score=1.625;MutationAssessor_pred=L;FATHMM_score=-4.36;FATHMM_pred=D;phyloP100way_vertebrate=3.521;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=12.061;gerp++gt2=5.54;CADD=3.875;CADD_Phred=23.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,28:62:99:1067,0,1957 1 26517891 rs11247867 C T 627.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.349;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CATSPER4:NM_198137:exon2:c.C327T:p.I109I;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0089;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.0893;1000g2015aug_all=0.117013;esp6500siv2_all=0.1960;ExAC_ALL=0.1534;ExAC_AFR=0.2094;ExAC_AMR=0.0849;ExAC_EAS=0.0130;ExAC_FIN=0.1560;ExAC_NFE=0.1914;ExAC_OTH=0.1527;ExAC_SAS=0.0856;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,25:50:99:656,0,687 1 26522034 rs11247869 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2633\x3bName\x3e"57295:AluY(SINE)";avsnp150=rs11247869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.6628;1000g2015aug_all=0.675319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 26522035 rs150184988 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2633\x3bName\x3e"57295:AluY(SINE)";avsnp150=rs150184988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.208;1000g2015aug_amr=0.0893;1000g2015aug_all=0.118411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 26524016 rs10902719 T A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10902719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.6614;1000g2015aug_all=0.672324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 26524401 rs57653638 A G 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.937;DP=33;ExcessHet=3.0103;FS=14.663;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=-3.113;SOR=2.453;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57653638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.0908;1000g2015aug_all=0.124201;esp6500siv2_all=0.1934;ExAC_ALL=0.1543;ExAC_AFR=0.2266;ExAC_AMR=0.0849;ExAC_EAS=0.0129;ExAC_FIN=0.1556;ExAC_NFE=0.1907;ExAC_OTH=0.1562;ExAC_SAS=0.0854;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,11:33:99:241,0,470 1 26524520 rs61776651 G A 565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.271;DP=46;ExcessHet=3.0103;FS=1.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.892;SOR=0.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CATSPER4:NM_198137:exon5:c.G630A:p.S210S;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61776651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0359425;esp6500siv2_all=0.0940;ExAC_ALL=0.0896;ExAC_AFR=0.0229;ExAC_AMR=0.0459;ExAC_EAS=0.0002;ExAC_FIN=0.1245;ExAC_NFE=0.1320;ExAC_OTH=0.0859;ExAC_SAS=0.0242;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,24:46:99:594,0,667 1 26524706 rs9970046 A G 2404.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=0.887;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.6628;1000g2015aug_all=0.672524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2433,231,0 1 26526348 rs17257148 G C 740.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.59;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.238;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17257148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.0879;1000g2015aug_all=0.131989;esp6500siv2_all=0.1908;ExAC_ALL=0.1615;ExAC_AFR=0.1947;ExAC_AMR=0.0821;ExAC_EAS=0.0134;ExAC_FIN=0.1546;ExAC_NFE=0.1891;ExAC_OTH=0.1763;ExAC_SAS=0.1644;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,24:55:99:769,0,927 1 26526439 rs17257155 A G 1226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.89;DP=131;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=1.338;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CATSPER4:NM_198137:exon7:c.A877G:p.I293V;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17257155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.0879;1000g2015aug_all=0.132588;esp6500siv2_all=0.1908;ExAC_ALL=0.1621;ExAC_AFR=0.1957;ExAC_AMR=0.0827;ExAC_EAS=0.0133;ExAC_FIN=0.1563;ExAC_NFE=0.1895;ExAC_OTH=0.1793;ExAC_SAS=0.1651;SIFT_score=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.051;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.033;Polyphen2_HVAR_pred=B;LRT_score=0.666;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.095;MutationAssessor_pred=L;FATHMM_score=-5.05;FATHMM_pred=D;phyloP100way_vertebrate=-0.174;phyloP20way_mammalian=-1.003;SiPhy_29way_logOdds=4.277;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,49:130:99:1255,0,2048 1 26527163 rs11247870 C A 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=0.431;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456354.6,ENST00000611853.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.115;1000g2015aug_amr=0.4121;1000g2015aug_all=0.315296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 26527699 rs869139 T C 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.977;DP=39;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=1.087;SOR=1.838;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs869139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.2608;1000g2015aug_all=0.379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:634,0,748 1 26527863 rs17163674 C T 2428.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.311;DP=186;ExcessHet=3.0103;FS=6.227;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.252;SOR=0.396;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=exonic;Gene=NM_198137;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CATSPER4:NM_198137:exon9:c.C1218T:p.R406R;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17163674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0898562;esp6500siv2_all=0.0982;ExAC_ALL=0.1217;ExAC_AFR=0.0231;ExAC_AMR=0.0530;ExAC_EAS=0.0897;ExAC_FIN=0.1116;ExAC_NFE=0.1406;ExAC_OTH=0.1325;ExAC_SAS=0.1752;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,96:186:99:2457,0,2300 1 26528761 rs34198298 G A 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=-1.242;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCATSPER4;Func=intronic;Gene=NM_198137;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611853.1,ENST00000456354.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34198298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.0735;1000g2015aug_all=0.081869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 26545946 rs6697521 A C 362.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198137,NR_110698;GeneDetail=dist\x3e16913\x3bdist\x3e5865;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.920331\x3bName\x3echr17:81681208;Repeat=.;avsnp150=rs6697521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.6916;1000g2015aug_all=0.72484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:391,33,0 1 26547115 rs1577506 T C 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198137,NR_110698;GeneDetail=dist\x3e18082\x3bdist\x3e4696;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.920331\x3bName\x3echr17:81681208;Repeat=.;avsnp150=rs1577506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.8593;1000g2015aug_amr=0.6902;1000g2015aug_all=0.71885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 26547179 rs1577507 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198137,NR_110698;GeneDetail=dist\x3e18146\x3bdist\x3e4632;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.920331\x3bName\x3echr17:81681208;Repeat=.;avsnp150=rs1577507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.4006;1000g2015aug_all=0.406949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26560131 rs6663950 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.402;1000g2015aug_all=0.388778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 26566114 rs575986210 A G 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=1.041;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451429.6,ENST00000252992.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2277\x3bName\x3e"57411:AluSx(SINE)";avsnp150=rs575986210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:334,0,163 1 26568542 rs10902723 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000252992.8,ENST00000451429.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2142\x3bName\x3e"57418:AluSx(SINE)";avsnp150=rs10902723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.402;1000g2015aug_all=0.388179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26570316 rs6598949 G C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000252992.8,ENST00000451429.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2461\x3bName\x3e"57425:AluSg7(SINE)";avsnp150=rs6598949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.6916;1000g2015aug_all=0.72524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 26570993 rs869683 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451429.6,ENST00000252992.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs869683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.3963;1000g2015aug_all=0.384185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 26582091 rs3795686 G A 1840.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.426;DP=155;ExcessHet=3.0103;FS=8.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.375;SOR=0.972;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=exonic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N;Gencode=Name\x3eENST00000252992.8,ENST00000451429.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.2363;1000g2015aug_all=0.186302;esp6500siv2_all=0.2355;ExAC_ALL=0.2533;ExAC_AFR=0.0867;ExAC_AMR=0.2539;ExAC_EAS=0.2477;ExAC_FIN=0.2994;ExAC_NFE=0.3003;ExAC_OTH=0.2720;ExAC_SAS=0.1515;SIFT_score=0.646;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.995;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=2.78;FATHMM_pred=T;phyloP100way_vertebrate=1.935;phyloP20way_mammalian=0.201;SiPhy_29way_logOdds=9.919;gerp++gt2=4.24;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,72:155:99:1869,0,2201 1 26583998 rs4659417 T C 633.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.61;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000252992.8,ENST00000451429.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.696;1000g2015aug_all=0.726438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:662,48,0 1 26597144 rs12757113 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001281518,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451429.6,ENST00000252992.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.4063;1000g2015aug_all=0.389776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26597435 rs4659419 G A 1935.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=0.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001281518,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451429.6,ENST00000252992.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e256\x3bName\x3e"57500:MIRb(SINE)";avsnp150=rs4659419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.696;1000g2015aug_all=0.726438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1964,159,0 1 26597673 rs11247894 G A 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.354;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-1.889;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001281518,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451429.6,ENST00000252992.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.5245;1000g2015aug_all=0.525958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,27:51:99:832,0,747 1 26601385 rs3795685 G A 1574.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=2.252;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP85;Func=intronic;Gene=NM_001281517,NM_001281518,NM_001319944,NM_022778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000252992.8,ENST00000451429.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.3374;1000g2015aug_amr=0.4049;1000g2015aug_all=0.390176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1603,135,0 1 26607123 rs12759434 C T 301.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH3BGRL3;Func=intronic;Gene=NM_031286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319041.6,ENST00000614679.2,ENST00000270792.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12759434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.402;1000g2015aug_all=0.392772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 1 26608649 rs12750420 G A 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.726;DP=22;ExcessHet=3.0103;FS=2.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.53;ReadPosRankSum=-0.775;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001077262,NM_031286,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314675.11;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12750420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.2334;1000g2015aug_all=0.187101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,6:22:99:150,0,465 1 26608782 rs34209692 C T 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.415;DP=20;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.383;SOR=1.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=UTR3;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=NM_001077262:c.*8G>A\x3bNM_145345:c.*8G>A\x3bNM_183008:c.*8G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374217.6,ENST00000374221.7,ENST00000314675.11,ENST00000357089.8,ENST00000374223.5,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34209692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.2349;1000g2015aug_all=0.186302;esp6500siv2_all=0.2265;ExAC_ALL=0.3183;ExAC_AFR=0.1182;ExAC_AMR=0.3859;ExAC_EAS=0.3856;ExAC_FIN=0.3444;ExAC_NFE=0.3400;ExAC_OTH=0.3173;ExAC_SAS=0.1907;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:203,0,398 1 26608814 . A * 852.77 PASS AC=1;AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.97;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=exonic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314675.11,ENST00000357089.8,ENST00000374223.5,ENST00000374217.6,ENST00000374221.7,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e60\x3bName\x3e"57517:(GGACCG)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,7:19:99:881,548,524 1 26608814 rs6672357 A G 852.77 PASS AC=1;AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.97;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=exonic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBXN11:NM_001077262:exon11:c.T1179C:p.P393P,UBXN11:NM_145345:exon15:c.T1440C:p.P480P,UBXN11:NM_183008:exon16:c.T1539C:p.P513P;Gencode=Name\x3eENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e60\x3bName\x3e"57517:(GGACCG)n(Simple_repeat)";avsnp150=rs6672357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.638;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.7219;1000g2015aug_all=0.75;esp6500siv2_all=.;ExAC_ALL=0.5360;ExAC_AFR=0.5860;ExAC_AMR=0.5172;ExAC_EAS=0.4748;ExAC_FIN=0.5504;ExAC_NFE=0.5375;ExAC_OTH=0.5457;ExAC_SAS=0.5320;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,12:19:99:881,297,255 1 26609259 rs7522905 C T 3362.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=0.82;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=exonic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBXN11:NM_001077262:exon10:c.G813A:p.T271T,UBXN11:NM_145345:exon14:c.G1074A:p.T358T,UBXN11:NM_183008:exon15:c.G1173A:p.T391T;Gencode=Name\x3eENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000357089.8,ENST00000314675.11,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.3948;1000g2015aug_all=0.384585;esp6500siv2_all=0.5810;ExAC_ALL=0.5273;ExAC_AFR=0.3816;ExAC_AMR=0.3836;ExAC_EAS=0.29;ExAC_FIN=0.5957;ExAC_NFE=0.6443;ExAC_OTH=0.5478;ExAC_SAS=0.3371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3391,294,0 1 26609307 rs6598952 G T 2985.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.959;DP=90;ExcessHet=3.0103;FS=3.415;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.18;ReadPosRankSum=-1.328;SOR=0.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000314675.11,ENST00000357089.8,ENST00000374223.5,ENST00000374217.6,ENST00000374221.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6598952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.6945;1000g2015aug_all=0.726238;esp6500siv2_all=0.9186;ExAC_ALL=0.8272;ExAC_AFR=0.8805;ExAC_AMR=0.6268;ExAC_EAS=0.4453;ExAC_FIN=0.9032;ExAC_NFE=0.9343;ExAC_OTH=0.8641;ExAC_SAS=0.6692;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,89:90:99:3014,259,0 1 26610891 rs4332350 A C 3613.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.862;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=exonic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UBXN11:NM_001077262:exon7:c.T575G:p.L192R,UBXN11:NM_145345:exon11:c.T836G:p.L279R,UBXN11:NM_183008:exon12:c.T935G:p.L312R;Gencode=Name\x3eENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4332350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8828;1000g2015aug_amr=0.6945;1000g2015aug_all=0.727037;esp6500siv2_all=0.9192;ExAC_ALL=0.8276;ExAC_AFR=0.8816;ExAC_AMR=0.6272;ExAC_EAS=0.4478;ExAC_FIN=0.9031;ExAC_NFE=0.9342;ExAC_OTH=0.8618;ExAC_SAS=0.6702;SIFT_score=0.555;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.372;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.2;MutationAssessor_pred=N;FATHMM_score=2.35;FATHMM_pred=T;phyloP100way_vertebrate=-0.358;phyloP20way_mammalian=-0.459;SiPhy_29way_logOdds=3.125;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3642,339,0 1 26612042 rs11247898 A G 453.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314675.11,ENST00000357089.8,ENST00000374223.5,ENST00000374217.6,ENST00000374221.7,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.882;1000g2015aug_amr=0.6945;1000g2015aug_all=0.722843;esp6500siv2_all=0.9185;ExAC_ALL=0.8326;ExAC_AFR=0.8796;ExAC_AMR=0.6289;ExAC_EAS=0.4549;ExAC_FIN=0.8986;ExAC_NFE=0.9333;ExAC_OTH=0.8653;ExAC_SAS=0.6604;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:482,42,0 1 26617339 rs4659369 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000357089.8,ENST00000314675.11;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0397364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26617578 rs6686311 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.8744;1000g2015aug_amr=0.6888;1000g2015aug_all=0.721845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 26620354 rs4659370 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000314675.11,ENST00000357089.8,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8752;1000g2015aug_amr=0.6888;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 26620489 rs3732416 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374223.5,ENST00000357089.8,ENST00000314675.11,ENST00000374221.7,ENST00000374217.6,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3732416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8752;1000g2015aug_amr=0.6888;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 26620998 rs6695643 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000314675.11,ENST00000357089.8,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e399\x3bName\x3e"57542:MIRb(SINE)";avsnp150=rs6695643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.885;1000g2015aug_amr=0.6902;1000g2015aug_all=0.722045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 26624270 rs11583258 C T 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=8.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-1.068;SOR=2.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11583258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.2982;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.2291;1000g2015aug_all=0.184105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,184 1 26624327 rs4290051 G A 424.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000314675.11,ENST00000357089.8,ENST00000374223.5,ENST00000374217.6,ENST00000374221.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4290051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.6931;1000g2015aug_all=0.719848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:453,33,0 1 26627283 rs4291487 A G 639.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.87;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000357089.8,ENST00000314675.11;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4291487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.6931;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:668,48,0 1 26627478 rs2276712 T C 3613.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=exonic;Gene=NM_001077262,NM_183008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBXN11:NM_001077262:exon4:c.A138G:p.S46S,UBXN11:NM_183008:exon5:c.A138G:p.S46S;Gencode=Name\x3eENST00000374222.5,ENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2276712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.5885;1000g2015aug_amr=0.5735;1000g2015aug_all=0.567292;esp6500siv2_all=0.7276;ExAC_ALL=0.6687;ExAC_AFR=0.6259;ExAC_AMR=0.5524;ExAC_EAS=0.4300;ExAC_FIN=0.6992;ExAC_NFE=0.7545;ExAC_OTH=0.7;ExAC_SAS=0.5392;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3642,333,0 1 26627801 rs3821368 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374222.5,ENST00000374217.6,ENST00000374221.7,ENST00000357089.8,ENST00000314675.11,ENST00000374223.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3821368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.6888;1000g2015aug_all=0.71865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 26629465 rs11803933 G C 1167.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBXN11;Func=intronic;Gene=NM_001077262,NM_145345,NM_183008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374221.7,ENST00000374217.6,ENST00000374223.5,ENST00000314675.11,ENST00000357089.8,ENST00000374222.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11803933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.59;1000g2015aug_amr=0.5735;1000g2015aug_all=0.567891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1196,96,0 1 26646726 rs1071849 A G 2253.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.89;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD52;Func=exonic;Gene=NM_001803;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD52:NM_001803:exon2:c.A119G:p.N40S;Gencode=Name\x3eENST00000374213.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1071849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.498;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.5807;1000g2015aug_all=0.580671;esp6500siv2_all=0.7320;ExAC_ALL=0.6711;ExAC_AFR=0.6561;ExAC_AMR=0.5513;ExAC_EAS=0.4292;ExAC_FIN=0.6992;ExAC_NFE=0.7541;ExAC_OTH=0.7004;ExAC_SAS=0.5422;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.009;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.493;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.72;FATHMM_pred=T;phyloP100way_vertebrate=0.160;phyloP20way_mammalian=-0.126;SiPhy_29way_logOdds=4.278;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2282,156,0 1 26646730 rs17645 A G 2253.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD52;Func=exonic;Gene=NM_001803;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD52:NM_001803:exon2:c.A123G:p.I41M;Gencode=Name\x3eENST00000374213.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.498;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.5807;1000g2015aug_all=0.580671;esp6500siv2_all=0.7320;ExAC_ALL=0.6711;ExAC_AFR=0.6562;ExAC_AMR=0.5514;ExAC_EAS=0.4293;ExAC_FIN=0.6992;ExAC_NFE=0.7541;ExAC_OTH=0.7004;ExAC_SAS=0.5423;SIFT_score=0.294;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.258;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.53;FATHMM_pred=T;phyloP100way_vertebrate=0.094;phyloP20way_mammalian=-0.760;SiPhy_29way_logOdds=7.166;gerp++gt2=3.42;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2282,156,0 1 26648551 rs11247913 G C 4779.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.5;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.5749;1000g2015aug_all=0.559704;esp6500siv2_all=0.7079;ExAC_ALL=0.6672;ExAC_AFR=0.5860;ExAC_AMR=0.5502;ExAC_EAS=0.4344;ExAC_FIN=0.6999;ExAC_NFE=0.7548;ExAC_OTH=0.6962;ExAC_SAS=0.5506;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,148:148:99:4808,444,0 1 26650550 rs11247915 C A 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.483;DP=29;ExcessHet=3.0103;FS=2.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=0.675;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.2637;1000g2015aug_all=0.309904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,18:29:99:584,0,338 1 26654568 rs4659430 C T 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=2.753;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e367\x3bName\x3e"57636:MER113A(DNA)";avsnp150=rs4659430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0397364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,247 1 26654937 rs11589684 G C 1673.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.208;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.6383;1000g2015aug_all=0.678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1702,144,0 1 26655208 rs11247916 C T 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.055;DP=36;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.924;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.3847;1000g2015aug_all=0.457069;esp6500siv2_all=0.5614;ExAC_ALL=0.4883;ExAC_AFR=0.6411;ExAC_AMR=0.3258;ExAC_EAS=0.1756;ExAC_FIN=0.5167;ExAC_NFE=0.5370;ExAC_OTH=0.4989;ExAC_SAS=0.4612;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:445,0,591 1 26655462 rs12057290 C T 704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.901;DP=57;ExcessHet=3.0103;FS=1.095;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.056;SOR=0.474;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e230\x3bName\x3e"57638:L2c(LINE)";avsnp150=rs12057290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.6679;1000g2015aug_amr=0.3847;1000g2015aug_all=0.456669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,29:57:99:733,0,760 1 26655507 rs11247917 C A 520.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.609;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.457;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e230\x3bName\x3e"57638:L2c(LINE)";avsnp150=rs11247917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.2176;1000g2015aug_all=0.282548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,17:31:99:549,0,457 1 26655614 rs12059495 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.3926;1000g2015aug_amr=0.2147;1000g2015aug_all=0.273762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 26658391 rs4659431 A C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1044\x3bName\x3e"57649:L1MC5a(LINE)";avsnp150=rs4659431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.6383;1000g2015aug_all=0.676118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 26662774 rs7517559 C T 3700.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.833;1000g2015aug_afr=0.82;1000g2015aug_amr=0.6354;1000g2015aug_all=0.671126;esp6500siv2_all=0.8268;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:3729,361,0 1 26662904 rs72649360 C T 1724.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.991;DP=112;ExcessHet=3.0103;FS=0.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.18;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72649360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.136;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.2507;1000g2015aug_all=0.210264;esp6500siv2_all=0.2617;ExAC_ALL=0.3128;ExAC_AFR=0.2069;ExAC_AMR=0.3152;ExAC_EAS=0.3139;ExAC_FIN=0.3730;ExAC_NFE=0.3546;ExAC_OTH=0.3288;ExAC_SAS=0.1828;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,61:112:99:1753,0,1320 1 26663362 rs10751735 C T 809.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.289;DP=62;ExcessHet=3.0103;FS=5.148;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.691;SOR=0.397;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=exonic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CRYBG2:NM_001039775:exon11:c.G3881A:p.S1294N;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10751735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.3833;1000g2015aug_all=0.455871;esp6500siv2_all=0.5609;ExAC_ALL=0.5604;ExAC_AFR=0.6825;ExAC_AMR=0.4378;ExAC_EAS=0.2759;ExAC_FIN=0.6153;ExAC_NFE=0.5961;ExAC_OTH=0.5575;ExAC_SAS=0.4998;SIFT_score=0.117;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.642;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.37;MutationAssessor_pred=L;FATHMM_score=-0.97;FATHMM_pred=T;phyloP100way_vertebrate=-0.062;phyloP20way_mammalian=-0.436;SiPhy_29way_logOdds=2.485;gerp++gt2=.;CADD=0.902;CADD_Phred=10.09;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,29:62:99:838,0,875 1 26664219 rs4072445 T C 126.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.868;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.888;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4072445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.2493;1000g2015aug_all=0.21246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:155,0,387 1 26664968 rs11247919 C T 1301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.966;DP=96;ExcessHet=3.0103;FS=0.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.259;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=exonic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRYBG2:NM_001039775:exon7:c.G3345A:p.L1115L;Gencode=Name\x3eENST00000527815.5,ENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.4395;1000g2015aug_amr=0.2161;1000g2015aug_all=0.286142;esp6500siv2_all=0.4208;ExAC_ALL=0.3550;ExAC_AFR=0.4353;ExAC_AMR=0.1667;ExAC_EAS=0.0338;ExAC_FIN=0.4156;ExAC_NFE=0.4290;ExAC_OTH=0.3688;ExAC_SAS=0.2714;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,51:96:99:1330,0,1216 1 26665991 rs6675432 C G 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-1.465;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=intronic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2323\x3bName\x3e"57676:AluSp(SINE)";avsnp150=rs6675432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.4251;1000g2015aug_all=0.478634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:154,0,62 1 26670444 rs36024412 G T 1102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.333;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.51;SOR=0.677;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=exonic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CRYBG2:NM_001039775:exon2:c.C2705A:p.S902Y;Gencode=Name\x3eENST00000308182.9,ENST00000527815.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36024412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.115;1000g2015aug_amr=0.2478;1000g2015aug_all=0.20647;esp6500siv2_all=.;ExAC_ALL=0.2338;ExAC_AFR=0.1804;ExAC_AMR=0.2477;ExAC_EAS=0.3355;ExAC_FIN=0.4423;ExAC_NFE=0.3062;ExAC_OTH=0.2868;ExAC_SAS=0.1900;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.469;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-1.14;FATHMM_pred=T;phyloP100way_vertebrate=2.596;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=15.969;gerp++gt2=5.43;CADD=5.396;CADD_Phred=26.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,41:80:99:1131,0,1099 1 26670609 rs34370465 C T 613.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.764;DP=35;ExcessHet=3.0103;FS=3.344;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.017;SOR=0.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM1L;Func=exonic;Gene=NM_001039775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CRYBG2:NM_001039775:exon2:c.G2540A:p.R847H;Gencode=Name\x3eENST00000308182.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34370465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.2478;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=0.2139;ExAC_AFR=0.1626;ExAC_AMR=0.2135;ExAC_EAS=0.3160;ExAC_FIN=0.4773;ExAC_NFE=0.2923;ExAC_OTH=0.2910;ExAC_SAS=0.1732;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.658;phyloP20way_mammalian=0.065;SiPhy_29way_logOdds=12.443;gerp++gt2=2.85;CADD=1.245;CADD_Phred=11.98;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:642,0,403 1 26689659 rs11247932 G A 1991.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.704;DP=126;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-1.056;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF683;Func=intronic;Gene=NM_001114759,NM_001307925,NM_173574;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000349618.7,ENST00000403843.5,ENST00000436292.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.4193;1000g2015aug_all=0.253994;esp6500siv2_all=0.2866;ExAC_ALL=0.3294;ExAC_AFR=0.1487;ExAC_AMR=0.4099;ExAC_EAS=0.2640;ExAC_FIN=0.3889;ExAC_NFE=0.3605;ExAC_OTH=0.3467;ExAC_SAS=0.2668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,74:126:99:2020,0,1453 1 26690864 rs7534104 G T 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.538;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF683;Func=intronic;Gene=NM_001114759,NM_001307925,NM_173574;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403843.5,ENST00000436292.5,ENST00000349618.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.8108;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.7464;1000g2015aug_all=0.769768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:310,0,477 1 26691174 rs11247933 C A 1481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.097;DP=110;ExcessHet=3.0103;FS=0.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.494;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF683;Func=exonic;Gene=NM_001114759,NM_001307925,NM_173574;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZNF683:NM_001114759:exon4:c.G863T:p.R288L,ZNF683:NM_001307925:exon4:c.G863T:p.R288L,ZNF683:NM_173574:exon4:c.G863T:p.R288L;Gencode=Name\x3eENST00000349618.7,ENST00000436292.5,ENST00000403843.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.341;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.4193;1000g2015aug_all=0.263379;esp6500siv2_all=0.2929;ExAC_ALL=0.3251;ExAC_AFR=0.1631;ExAC_AMR=0.4042;ExAC_EAS=0.2583;ExAC_FIN=0.3815;ExAC_NFE=0.3561;ExAC_OTH=0.3377;ExAC_SAS=0.2577;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=3.01;FATHMM_pred=T;phyloP100way_vertebrate=-1.690;phyloP20way_mammalian=-0.302;SiPhy_29way_logOdds=3.865;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,58:110:99:1510,0,1433 1 26700795 rs7520030 T C 1346.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.455;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173574,NM_024674;GeneDetail=dist\x3e1510\x3bdist\x3e36464;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9971;1000g2015aug_all=0.992412;esp6500siv2_all=.;ExAC_ALL=0.9980;ExAC_AFR=0.9719;ExAC_AMR=0.9966;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9993;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1375,129,0 1 26737143 rs3811464 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_024674;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.415;1000g2015aug_all=0.313698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 26752129 rs35015532 A G 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.674;DP=34;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.295;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLIN28A;Func=intronic;Gene=NM_024674;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326279.10,ENST00000254231.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.912022\x3bName\x3echr2:183260863;Repeat=.;avsnp150=rs35015532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.366;1000g2015aug_all=0.196486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:448,0,733 1 26752992 rs4659441 T C 2667.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.92;QD=27.53;SOR=2.63;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLIN28A;Func=UTR3;Gene=NM_024674;GeneDetail=NM_024674:c.*43T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326279.10,ENST00000254231.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.912022\x3bName\x3echr2:183260863;Repeat=.;avsnp150=rs4659441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.7843;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.8718;1000g2015aug_all=0.843251;esp6500siv2_all=0.8183;ExAC_ALL=0.8288;ExAC_AFR=0.8511;ExAC_AMR=0.9212;ExAC_EAS=0.8853;ExAC_FIN=0.8096;ExAC_NFE=0.7983;ExAC_OTH=0.8394;ExAC_SAS=0.8531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2696,228,0 1 26764621 . T C 781.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.847;DP=67;ExcessHet=3.0103;FS=9.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.841;SOR=1.882;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHDDS;Func=intronic;Gene=NM_001243564,NM_001243565,NM_001319959,NM_024887,NM_205861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526219.5,ENST00000236342.11,ENST00000427245.6,ENST00000374185.7,ENST00000525682.6,ENST00000360009.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,27:67:99:810,0,1151 1 26784196 rs114122859 A G 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.531;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.658;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHDDS;Func=intronic;Gene=NM_001243564,NM_001243565,NM_001319959,NM_024887,NM_205861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525682.6,ENST00000360009.6,ENST00000526219.5,ENST00000236342.11;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114122859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0092;1000g2015aug_eur=0.0099;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00439297;esp6500siv2_all=0.0085;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,266 1 26800849 rs2445635 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGN2;Func=intronic;Gene=NM_005517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619352.4,ENST00000361427.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2445635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.643;1000g2015aug_amr=0.4409;1000g2015aug_all=0.549321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26801290 rs2045343 A T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.608;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=0.696;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGN2;Func=intronic;Gene=NM_005517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361427.5,ENST00000619352.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2045343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.1268;1000g2015aug_all=0.0686901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,5:19:99:140,0,492 1 26856462 rs11800553 T G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KA1;Func=exonic;Gene=NM_002953;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RPS6KA1:NM_002953:exon1:c.T51G:p.P17P;Gencode=Name\x3eENST00000374168.6,ENST00000374166.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11800553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9583;1000g2015aug_sas=0.9233;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.9179;1000g2015aug_all=0.936701;esp6500siv2_all=.;ExAC_ALL=0.9212;ExAC_AFR=0.9318;ExAC_AMR=0.9222;ExAC_EAS=0.9478;ExAC_FIN=.;ExAC_NFE=0.9426;ExAC_OTH=0.9107;ExAC_SAS=0.9127;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 26879920 rs4970490 T C 1539.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KA1;Func=exonic;Gene=NM_001006665,NM_001330441,NM_002953;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RPS6KA1:NM_001006665:exon6:c.T534C:p.A178A,RPS6KA1:NM_001330441:exon6:c.T459C:p.A153A,RPS6KA1:NM_002953:exon7:c.T507C:p.A169A;Gencode=Name\x3eENST00000374166.8,ENST00000374168.6,ENST00000526792.5,ENST00000530003.5,ENST00000531382.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991214;esp6500siv2_all=0.9919;ExAC_ALL=0.9978;ExAC_AFR=0.9755;ExAC_AMR=0.9995;ExAC_EAS=1;ExAC_FIN=0.9995;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1568,153,0 1 26883511 rs2229712 A C 1619.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.449;DP=121;ExcessHet=3.0103;FS=4.373;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.892;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KA1;Func=exonic;Gene=NM_001006665,NM_001330441,NM_002953;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RPS6KA1:NM_001006665:exon12:c.A1031C:p.K344T,RPS6KA1:NM_001330441:exon12:c.A956C:p.K319T,RPS6KA1:NM_002953:exon13:c.A1004C:p.K335T;Gencode=Name\x3eENST00000374168.6,ENST00000374166.8,ENST00000531382.5,ENST00000530003.5,ENST00000526792.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.2651;1000g2015aug_all=0.160942;esp6500siv2_all=0.1738;ExAC_ALL=0.2115;ExAC_AFR=0.0427;ExAC_AMR=0.2957;ExAC_EAS=0.1750;ExAC_FIN=0.1969;ExAC_NFE=0.2204;ExAC_OTH=0.1949;ExAC_SAS=0.2491;SIFT_score=0.314;SIFT_pred=T;Polyphen2_HDIV_score=0.088;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.104;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.845;MutationAssessor_pred=L;FATHMM_score=0.63;FATHMM_pred=T;phyloP100way_vertebrate=7.206;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=10.011;gerp++gt2=5.49;CADD=2.491;CADD_Phred=19.41;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,63:121:99:1648,0,1499 1 26899444 rs190737 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KA1;Func=intronic;Gene=NM_001006665,NM_001330441,NM_002953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374168.6,ENST00000374166.8,ENST00000531382.5,ENST00000530003.5,ENST00000526792.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e646\x3bName\x3e"58363:MIRb(SINE)";avsnp150=rs190737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.6844;1000g2015aug_all=0.695088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 26901007 rs41303623 G A 428.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.138;DP=34;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.034;SOR=0.993;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KA1;Func=UTR3;Gene=NM_001006665,NM_001330441,NM_002953;GeneDetail=NM_001006665:c.*315G>A\x3bNM_001330441:c.*315G>A\x3bNM_002953:c.*315G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530003.5,ENST00000374166.8,ENST00000374168.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41303623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0092;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:457,0,472 1 27238150 rs7504 A G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.56;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR0B2;Func=UTR3;Gene=NM_021969;GeneDetail=NM_021969:c.*186T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000254227.3;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.4207;1000g2015aug_all=0.47524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 27320356 rs6689941 T C 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRNP1;Func=exonic;Gene=NM_001013642;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRNP1:NM_001013642:exon1:c.T79C:p.W27R;Gencode=Name\x3eENST00000522111.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9971;1000g2015aug_all=0.982029;esp6500siv2_all=0.9879;ExAC_ALL=0.9947;ExAC_AFR=0.9607;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.9959;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.848;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.554;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=1.09;FATHMM_pred=T;phyloP100way_vertebrate=0.300;phyloP20way_mammalian=-0.113;SiPhy_29way_logOdds=5.024;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 27332286 rs762840030 A T 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=0;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM46B;Func=UTR3;Gene=NM_052943;GeneDetail=NM_052943:c.*149T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289166.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs762840030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 27374218 rs537951 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052943,NM_003047;GeneDetail=dist\x3e34885\x3bdist\x3e51082;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs537951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9035;1000g2015aug_all=0.846046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 27426796 rs4266911 T C 594.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9A1;Func=UTR3;Gene=NM_003047;GeneDetail=NM_003047:c.*2A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263980.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4266911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9784;1000g2015aug_all=0.98742;esp6500siv2_all=0.9699;ExAC_ALL=0.9685;ExAC_AFR=0.9902;ExAC_AMR=0.9808;ExAC_EAS=1;ExAC_FIN=0.9465;ExAC_NFE=0.9576;ExAC_OTH=0.9661;ExAC_SAS=0.9914;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:623,57,0 1 27427041 rs4418629 T C 2966.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9A1;Func=exonic;Gene=NM_003047;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC9A1:NM_003047:exon12:c.A2205G:p.E735E;Gencode=Name\x3eENST00000263980.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4418629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9632;1000g2015aug_afr=1;1000g2015aug_amr=0.9798;1000g2015aug_all=0.989217;esp6500siv2_all=0.9713;ExAC_ALL=0.9694;ExAC_AFR=0.9961;ExAC_AMR=0.9814;ExAC_EAS=1;ExAC_FIN=0.9465;ExAC_NFE=0.9568;ExAC_OTH=0.9626;ExAC_SAS=0.9890;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:2995,267,0 1 27605432 rs10902654 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDTC1;Func=intronic;Gene=NM_001276252,NM_015023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319394.7,ENST00000361771.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1452\x3bName\x3e"60485:AluSz6(SINE)";avsnp150=rs10902654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.9597;1000g2015aug_all=0.909345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 27607775 rs187336969 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDTC1;Func=intronic;Gene=NM_001276252,NM_015023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361771.7,ENST00000319394.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"60494:AluY(SINE)";avsnp150=rs187336969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00139776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 27609980 rs6670124 T G 3620.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=1.168;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDTC1;Func=intronic;Gene=NM_001276252,NM_015023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319394.7,ENST00000361771.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"60500:(AGCACA)n(Simple_repeat)";avsnp150=rs6670124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9885;1000g2015aug_all=0.977835;esp6500siv2_all=0.9765;ExAC_ALL=0.9917;ExAC_AFR=0.9264;ExAC_AMR=0.9960;ExAC_EAS=0.9991;ExAC_FIN=0.9954;ExAC_NFE=0.9975;ExAC_OTH=0.9965;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3649,326,0 1 27610043 rs41291064 T C 1146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.108;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.152;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDTC1;Func=intronic;Gene=NM_001276252,NM_015023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319394.7,ENST00000361771.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41291064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.0865;1000g2015aug_all=0.115216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,40:74:99:1175,0,959 1 27610069 rs10902656 C T 826.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.824;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-1.025;SOR=0.745;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDTC1;Func=intronic;Gene=NM_001276252,NM_015023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319394.7,ENST00000361771.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10902656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.8271;1000g2015aug_all=0.721645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,28:59:99:855,0,911 1 27649094 rs4592273 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611517.4,ENST00000464813.5,ENST00000466759.5,ENST00000608611.5,ENST00000374076.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4592273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1643;1000g2015aug_all=0.109225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 27652132 rs79070316 A G 351.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.276;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.45;ReadPosRankSum=-1.503;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222,ACTG1P20;Func=ncRNA_exonic;Gene=NR_033926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374076.8,ENST00000608611.5,ENST00000466759.5,ENST00000464813.5,ENST00000611517.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=Score\x3e0.912898\x3bName\x3echr17:81509970;Repeat=.;avsnp150=rs79070316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.1052;1000g2015aug_all=0.14397;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:88:380,0,88 1 27659965 rs6687283 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464813.5,ENST00000608611.5,ENST00000611517.4,ENST00000374076.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1964\x3bName\x3e"60613:MLT1A0(LTR)";avsnp150=rs6687283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.885;1000g2015aug_amr=0.9813;1000g2015aug_all=0.967053;esp6500siv2_all=.;ExAC_ALL=0.9926;ExAC_AFR=0.9079;ExAC_AMR=0.9882;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9944;ExAC_OTH=0.9947;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 27659989 rs35397588 G A 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611517.4,ENST00000464813.5,ENST00000608611.5,ENST00000374076.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1964\x3bName\x3e"60613:MLT1A0(LTR)";avsnp150=rs35397588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.2522;1000g2015aug_all=0.284345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:70,0,33 1 27660340 rs12758154 T C 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.132;DP=33;ExcessHet=3.0103;FS=2.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.505;SOR=0.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611517.4,ENST00000608611.5,ENST00000464813.5,ENST00000374076.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e404\x3bName\x3e"60614:L2c(LINE)";avsnp150=rs12758154;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.2594;1000g2015aug_all=0.29992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,12:33:99:334,0,710 1 27660568 rs35771571 G A 2550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.676;DP=169;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.171;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374076.8,ENST00000608611.5,ENST00000464813.5,ENST00000611517.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35771571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.2795;1000g2015aug_all=0.359625;esp6500siv2_all=0.4275;ExAC_ALL=0.3862;ExAC_AFR=0.4100;ExAC_AMR=0.2044;ExAC_EAS=0.2154;ExAC_FIN=0.4425;ExAC_NFE=0.4296;ExAC_OTH=0.3847;ExAC_SAS=0.3902;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,93:169:99:2579,0,2275 1 27661037 rs12565684 T C 917.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.611;DP=71;ExcessHet=3.0103;FS=7.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.099;SOR=0.208;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM222;Func=intronic;Gene=NM_032125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608611.5,ENST00000464813.5,ENST00000611517.4,ENST00000374076.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e363\x3bName\x3e"60615:MIRb(SINE)";avsnp150=rs12565684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.2334;1000g2015aug_all=0.265176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,31:71:99:946,0,1253 1 27675317 rs4246508 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.03;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=intronic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543823.1,ENST00000616558.4,ENST00000618673.4,ENST00000318074.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4246508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.2363;1000g2015aug_all=0.242013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 27676925 rs6702341 G A 2665.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.246;DP=230;ExcessHet=3.0103;FS=7.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-2.067;SOR=0.969;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=exonic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYTL1:NM_001193308:exon10:c.G954A:p.K318K,SYTL1:NM_032872:exon10:c.G918A:p.K306K;Gencode=Name\x3eENST00000318074.9,ENST00000618673.4,ENST00000616558.4,ENST00000543823.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.1392;1000g2015aug_amr=0.2089;1000g2015aug_all=0.244808;esp6500siv2_all=0.3059;ExAC_ALL=0.3132;ExAC_AFR=0.1630;ExAC_AMR=0.1564;ExAC_EAS=0.1726;ExAC_FIN=0.4081;ExAC_NFE=0.3652;ExAC_OTH=0.3215;ExAC_SAS=0.3428;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:127,103:230:99:2694,0,3490 1 27677409 rs113120872 G A 1208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.145;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.324;SOR=0.695;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=exonic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYTL1:NM_001193308:exon11:c.G1130A:p.G377D,SYTL1:NM_032872:exon11:c.G1094A:p.G365D;Gencode=Name\x3eENST00000616558.4,ENST00000543823.1,ENST00000318074.9,ENST00000618673.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113120872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0157748;esp6500siv2_all=0.0268;ExAC_ALL=0.0210;ExAC_AFR=0.0064;ExAC_AMR=0.0154;ExAC_EAS=0;ExAC_FIN=0.0040;ExAC_NFE=0.0318;ExAC_OTH=0.0191;ExAC_SAS=0.0090;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.525;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.415;MutationAssessor_pred=N;FATHMM_score=3.1;FATHMM_pred=T;phyloP100way_vertebrate=0.584;phyloP20way_mammalian=0.127;SiPhy_29way_logOdds=6.109;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,51:107:99:1237,0,1507 1 27679692 rs11247639 A G 3547.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=3.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=intronic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318074.9,ENST00000618673.4,ENST00000543823.1,ENST00000616558.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11247639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.4294;1000g2015aug_all=0.481629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3576,288,0 1 27679797 rs3813795 A G 8536.77 PASS AC=2;AF=1;AN=2;DP=268;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.055;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=exonic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R;Gencode=Name\x3eENST00000618673.4,ENST00000318074.9,ENST00000543823.1,ENST00000616558.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.3495;1000g2015aug_amr=0.4294;1000g2015aug_all=0.482228;esp6500siv2_all=0.5993;ExAC_ALL=0.6508;ExAC_AFR=0.4558;ExAC_AMR=0.4485;ExAC_EAS=0.3327;ExAC_FIN=0.7133;ExAC_NFE=0.7138;ExAC_OTH=0.6661;ExAC_SAS=0.7181;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.195;MutationAssessor_pred=N;FATHMM_score=3.28;FATHMM_pred=T;phyloP100way_vertebrate=1.041;phyloP20way_mammalian=-0.221;SiPhy_29way_logOdds=4.745;gerp++gt2=2.68;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,268:268:99:8565,803,0 1 27679954 rs1128918 G A 2398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.052;DP=162;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.768;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=exonic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYTL1:NM_001193308:exon14:c.G1524A:p.G508G,SYTL1:NM_032872:exon14:c.G1488A:p.G496G;Gencode=Name\x3eENST00000318074.9,ENST00000618673.4,ENST00000543823.1,ENST00000616558.4;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1128918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.2176;1000g2015aug_all=0.241014;esp6500siv2_all=0.2946;ExAC_ALL=0.3509;ExAC_AFR=0.1870;ExAC_AMR=0.2157;ExAC_EAS=0.1983;ExAC_FIN=0.4540;ExAC_NFE=0.3958;ExAC_OTH=0.3567;ExAC_SAS=0.3773;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,87:162:99:2427,0,2135 1 27680292 rs8533 A G 2295.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYTL1;Func=exonic;Gene=NM_001193308,NM_032872;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E;Gencode=Name\x3eENST00000543823.1,ENST00000616558.4,ENST00000618673.4,ENST00000318074.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.4813;1000g2015aug_all=0.546326;esp6500siv2_all=0.7175;ExAC_ALL=0.6224;ExAC_AFR=0.6938;ExAC_AMR=0.3426;ExAC_EAS=0.2405;ExAC_FIN=0.6935;ExAC_NFE=0.7219;ExAC_OTH=0.6479;ExAC_SAS=0.5412;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2324,222,0 1 27682481 rs12569127 G A 2084.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.487;DP=149;ExcessHet=3.0103;FS=5.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.28;SOR=0.87;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357582.2,ENST00000374040.7,ENST00000493901.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12569127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.205;1000g2015aug_amr=0.2089;1000g2015aug_all=0.190296;esp6500siv2_all=0.2950;ExAC_ALL=0.2656;ExAC_AFR=0.2200;ExAC_AMR=0.1972;ExAC_EAS=0.1175;ExAC_FIN=0.2641;ExAC_NFE=0.3292;ExAC_OTH=0.2902;ExAC_SAS=0.1619;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,80:149:99:2113,0,1809 1 27682530 rs17162549 C G 1696.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.177;DP=153;ExcessHet=3.0103;FS=2.889;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.427;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=exonic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAP3K6:NM_001297609:exon26:c.G3674C:p.G1225A,MAP3K6:NM_004672:exon27:c.G3698C:p.G1233A;Gencode=Name\x3eENST00000374040.7,ENST00000357582.2,ENST00000493901.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17162549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.2451;1000g2015aug_amr=0.049;1000g2015aug_all=0.0892572;esp6500siv2_all=0.0923;ExAC_ALL=0.0465;ExAC_AFR=0.2153;ExAC_AMR=0.0280;ExAC_EAS=0;ExAC_FIN=0.0153;ExAC_NFE=0.0358;ExAC_OTH=0.0407;ExAC_SAS=0.0337;SIFT_score=0.817;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=1.195;MutationAssessor_pred=L;FATHMM_score=-0.08;FATHMM_pred=T;phyloP100way_vertebrate=-0.056;phyloP20way_mammalian=-0.620;SiPhy_29way_logOdds=3.669;gerp++gt2=.;CADD=1.421;CADD_Phred=12.90;ALLELE_END GT:AD:DP:GQ:PL 0/1:89,64:153:99:1725,0,2439 1 27686063 rs7521552 G C 2515.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=1.745;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357582.2,ENST00000374040.7,ENST00000493901.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.997;1000g2015aug_afr=0.966;1000g2015aug_amr=0.987;1000g2015aug_all=0.988019;esp6500siv2_all=0.9855;ExAC_ALL=0.9939;ExAC_AFR=0.9651;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=0.9998;ExAC_NFE=0.9957;ExAC_OTH=0.9989;ExAC_SAS=0.9969;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2544,213,0 1 27687129 rs186040047 C A 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.137;DP=27;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.746;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374040.7,ENST00000357582.2,ENST00000493901.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs186040047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,9:27:99:264,0,525 1 27687366 rs35733093 C G 791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.854;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.671;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493901.5,ENST00000357582.2,ENST00000374040.7;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35733093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.093;1000g2015aug_amr=0.219;1000g2015aug_all=0.310304;esp6500siv2_all=0.2670;ExAC_ALL=0.3325;ExAC_AFR=0.1465;ExAC_AMR=0.1598;ExAC_EAS=0.5270;ExAC_FIN=0.4035;ExAC_NFE=0.3494;ExAC_OTH=0.3329;ExAC_SAS=0.3605;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,31:58:99:820,0,702 1 27687466 rs35659744 G T 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.374;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.685;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=exonic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K;Gencode=Name\x3eENST00000493901.5,ENST00000374040.7,ENST00000357582.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35659744;cosmic70=.;CLNALLELEID=389413;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1571;1000g2015aug_all=0.122005;esp6500siv2_all=0.2163;ExAC_ALL=0.2622;ExAC_AFR=0.0647;ExAC_AMR=0.1470;ExAC_EAS=0.1118;ExAC_FIN=0.3023;ExAC_NFE=0.3407;ExAC_OTH=0.2847;ExAC_SAS=0.1776;SIFT_score=0.104;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.255;MutationAssessor_pred=M;FATHMM_score=-0.16;FATHMM_pred=T;phyloP100way_vertebrate=0.183;phyloP20way_mammalian=0.048;SiPhy_29way_logOdds=4.454;gerp++gt2=.;CADD=1.018;CADD_Phred=10.76;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:414,0,588 1 27688633 rs1138294 G A 876.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.109;DP=67;ExcessHet=3.0103;FS=6.493;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.326;SOR=0.596;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=exonic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAP3K6:NM_001297609:exon8:c.C1340T:p.T447I,MAP3K6:NM_004672:exon9:c.C1364T:p.T455I;Gencode=Name\x3eENST00000357582.2,ENST00000374040.7,ENST00000493901.5;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1138294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.2147;1000g2015aug_all=0.310503;esp6500siv2_all=0.2818;ExAC_ALL=0.3293;ExAC_AFR=0.1464;ExAC_AMR=0.1594;ExAC_EAS=0.5177;ExAC_FIN=0.3976;ExAC_NFE=0.3464;ExAC_OTH=0.3367;ExAC_SAS=0.3658;SIFT_score=0.209;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.49;MutationAssessor_pred=N;FATHMM_score=2.96;FATHMM_pred=T;phyloP100way_vertebrate=-1.271;phyloP20way_mammalian=-0.304;SiPhy_29way_logOdds=0.626;gerp++gt2=.;CADD=1.271;CADD_Phred=12.12;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,33:67:99:905,0,946 1 27689763 rs4525067 C T 777.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.042;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=1.3;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493901.5,ENST00000374040.7,ENST00000357582.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4525067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0982;1000g2015aug_sas=0.138;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1931;1000g2015aug_all=0.136382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,26:45:99:806,0,569 1 27690297 rs4075731 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493901.5,ENST00000374040.7,ENST00000357582.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e512\x3bName\x3e"60661:MIRb(SINE)";avsnp150=rs4075731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.341;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.2824;1000g2015aug_all=0.354433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 27690359 rs4307592 T C 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.309;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493901.5,ENST00000374040.7,ENST00000357582.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e512\x3bName\x3e"60661:MIRb(SINE)";avsnp150=rs4307592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.2248;1000g2015aug_all=0.219649;esp6500siv2_all=0.3281;ExAC_ALL=0.2976;ExAC_AFR=0.3180;ExAC_AMR=0.2439;ExAC_EAS=0.1188;ExAC_FIN=0.2945;ExAC_NFE=0.3428;ExAC_OTH=0.3029;ExAC_SAS=0.1714;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:212,0,216 1 27690644 rs12727507 A G 756.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.237;DP=58;ExcessHet=3.0103;FS=1.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.023;SOR=0.857;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP3K6;Func=intronic;Gene=NM_001297609,NM_004672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493901.5,ENST00000374040.7,ENST00000357582.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12727507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.341;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.2824;1000g2015aug_all=0.354832;esp6500siv2_all=0.4593;ExAC_ALL=0.3309;ExAC_AFR=0.6736;ExAC_AMR=0.2328;ExAC_EAS=0.1166;ExAC_FIN=0.2775;ExAC_NFE=0.3619;ExAC_OTH=0.3434;ExAC_SAS=0.1994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,27:57:99:785,0,876 1 27696011 rs10218730 C T 2219.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=4.103;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCN3;Func=intronic;Gene=NM_003665,NM_173452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354982.2,ENST00000270879.8;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e387\x3bName\x3e"60670:MIRb(SINE)";avsnp150=rs10218730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9928;1000g2015aug_all=0.992412;esp6500siv2_all=0.9920;ExAC_ALL=0.9976;ExAC_AFR=0.9731;ExAC_AMR=0.9994;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2248,177,0 1 27705918 . T G 87.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.28;DP=42;ExcessHet=3.0103;FS=25.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.101;SOR=4.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD164L2;Func=UTR3;Gene=NM_001330448,NM_207397;GeneDetail=NM_001330448:c.*75A>C\x3bNM_207397:c.*619A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374027.7,ENST00000374030.2;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,12:37:99:116,0,582 1 27784389 rs3118947 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWASF2;Func=intronic;Gene=NM_001201404,NM_006990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536657.1,ENST00000618852.4,ENST00000492975.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1874\x3bName\x3e"60879:AluJr4(SINE)";avsnp150=rs3118947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.9481;1000g2015aug_all=0.750599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 27784542 rs3118948 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWASF2;Func=intronic;Gene=NM_001201404,NM_006990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536657.1,ENST00000618852.4,ENST00000492975.1;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2126\x3bName\x3e"60880:AluSx(SINE)";avsnp150=rs3118948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.9481;1000g2015aug_all=0.758786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 27875824 rs4908364 C T 1640.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAHDC1;Func=exonic;Gene=NM_001029882;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AHDC1:NM_001029882:exon6:c.G2803A:p.A935T;Gencode=Name\x3eENST00000374011.6,ENST00000247087.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9911;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=0.9949;ExAC_ALL=0.9956;ExAC_AFR=0.9987;ExAC_AMR=0.9977;ExAC_EAS=1;ExAC_FIN=0.9995;ExAC_NFE=0.9938;ExAC_OTH=0.9967;ExAC_SAS=0.9956;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.390;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=-0.683;phyloP20way_mammalian=0.090;SiPhy_29way_logOdds=7.470;gerp++gt2=.;CADD=2.136;CADD_Phred=17.09;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1669,132,0 1 27876482 rs2076457 C A 804.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.16;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.299;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAHDC1;Func=exonic;Gene=NM_001029882;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AHDC1:NM_001029882:exon6:c.G2145T:p.P715P;Gencode=Name\x3eENST00000247087.9,ENST00000374011.6;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.7406;1000g2015aug_all=0.792931;esp6500siv2_all=0.7169;ExAC_ALL=0.6813;ExAC_AFR=0.9308;ExAC_AMR=0.8045;ExAC_EAS=0.7942;ExAC_FIN=0.5868;ExAC_NFE=0.6088;ExAC_OTH=0.6384;ExAC_SAS=0.7070;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,33:76:99:833,0,1188 1 27918867 rs937809940 C G 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAHDC1;Func=intronic;Gene=NM_001029882;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374011.6,ENST00000247087.9;cytoBand=1p36.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"61242:(CACC)n(Simple_repeat)";avsnp150=rs937809940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 27944000 rs1292089 T A 1000.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGR;Func=intronic;Gene=NM_001042729,NM_001042747,NM_005248;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374004.5,ENST00000374005.7,ENST00000399173.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e352\x3bName\x3e"61295:MIRb(SINE)";avsnp150=rs1292089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.908;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9611;1000g2015aug_all=0.944489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1029,90,0 1 27961455 rs1292088 T G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGR;Func=intronic;Gene=NM_005248;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000374005.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1292088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9911;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 27991051 rs2491363 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005248,NM_002038;GeneDetail=dist\x3e29324\x3bdist\x3e1521;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2032\x3bName\x3e"61440:AluSx1(SINE)";avsnp150=rs2491363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.994;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.9582;1000g2015aug_all=0.906749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 27991061 rs2491362 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005248,NM_002038;GeneDetail=dist\x3e29334\x3bdist\x3e1511;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2032\x3bName\x3e"61440:AluSx1(SINE)";avsnp150=rs2491362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9667;1000g2015aug_amr=0.9928;1000g2015aug_all=0.990216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 27995077 rs56015130 G T 1567.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.941;DP=48;ExcessHet=3.0103;FS=4.025;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.66;ReadPosRankSum=1.047;SOR=1.009;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI6;Func=intronic;Gene=NM_002038,NM_022872,NM_022873;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339145.8,ENST00000361157.10,ENST00000362020.4;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56015130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.9751;1000g2015aug_afr=0.3722;1000g2015aug_amr=0.915;1000g2015aug_all=0.744409;esp6500siv2_all=0.8186;ExAC_ALL=0.9109;ExAC_AFR=0.5199;ExAC_AMR=0.9425;ExAC_EAS=0.7692;ExAC_FIN=0.9954;ExAC_NFE=0.9728;ExAC_OTH=0.9306;ExAC_SAS=0.8997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,47:48:99:1596,132,0 1 28008847 rs2788682 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002038,NM_001143912;GeneDetail=dist\x3e10123\x3bdist\x3e43643;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e852\x3bName\x3e"61491:LTR24B(LTR)";avsnp150=rs2788682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.969;1000g2015aug_amr=0.9942;1000g2015aug_all=0.990815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 28013500 rs2788690 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002038,NM_001143912;GeneDetail=dist\x3e14776\x3bdist\x3e38990;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2788690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.9323;1000g2015aug_all=0.771965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 28022342 rs2788679 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002038,NM_001143912;GeneDetail=dist\x3e23618\x3bdist\x3e30148;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3818\x3bName\x3e"61519:MER41B(LTR)";avsnp150=rs2788679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.5386;1000g2015aug_amr=0.9395;1000g2015aug_all=0.791534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 28026901 rs2211081 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002038,NM_001143912;GeneDetail=dist\x3e28177\x3bdist\x3e25589;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2525\x3bName\x3e"61537:AluSx(SINE)";avsnp150=rs2211081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.9395;1000g2015aug_all=0.792133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 28028551 rs12743180 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002038,NM_001143912;GeneDetail=dist\x3e29827\x3bdist\x3e23939;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2548\x3bName\x3e"61543:AluYk4(SINE)";avsnp150=rs12743180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.9207;1000g2015aug_all=0.7498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 28086955 rs10902671 C A 1418.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM76A;Func=intronic;Gene=NM_001143912,NM_001143913,NM_001143914,NM_001143915,NM_152660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234549.11,ENST00000010299.10,ENST00000419687.6,ENST00000373954.10,ENST00000373949.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10902671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9669;1000g2015aug_all=0.977835;esp6500siv2_all=0.9468;ExAC_ALL=0.9514;ExAC_AFR=0.9893;ExAC_AMR=0.9723;ExAC_EAS=0.9999;ExAC_FIN=0.9793;ExAC_NFE=0.9291;ExAC_OTH=0.9440;ExAC_SAS=0.9653;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1447,126,0 1 28199253 rs61787158 A G 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.175;DP=27;ExcessHet=3.0103;FS=1.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=1.904;SOR=1.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373927.7,ENST00000373921.7,ENST00000328928.11,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61787158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.174;1000g2015aug_amr=0.0951;1000g2015aug_all=0.101637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,9:27:99:227,0,522 1 28203355 rs12141710 G A 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.242;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373927.7,ENST00000373921.7,ENST00000328928.11,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0571086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 28206588 rs12568383 T C 1234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.45;DP=88;ExcessHet=3.0103;FS=3.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.106;SOR=0.388;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373927.7,ENST00000328928.11,ENST00000373921.7,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.2608;1000g2015aug_all=0.273962;esp6500siv2_all=0.2956;ExAC_ALL=0.3673;ExAC_AFR=0.1187;ExAC_AMR=0.2960;ExAC_EAS=0.4354;ExAC_FIN=0.4143;ExAC_NFE=0.3961;ExAC_OTH=0.3753;ExAC_SAS=0.4011;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,48:88:99:1263,0,1101 1 28208312 rs35250731 C A 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373925.5,ENST00000328928.11,ENST00000373921.7,ENST00000373927.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2353\x3bName\x3e"62039:AluSq2(SINE)";avsnp150=rs35250731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.2752;1000g2015aug_all=0.27476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 28208327 rs34631302 A G 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373927.7,ENST00000328928.11,ENST00000373921.7,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2353\x3bName\x3e"62039:AluSq2(SINE)";avsnp150=rs34631302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.6342;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.5072;1000g2015aug_all=0.455072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 28209305 rs3766398 A G 3556.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=exonic;Gene=NM_001105556,NM_001286113,NM_001286115;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=THEMIS2:NM_001105556:exon4:c.A1470G:p.L490L,THEMIS2:NM_001286115:exon4:c.A882G:p.L294L,THEMIS2:NM_001286113:exon5:c.A1083G:p.L361L;Gencode=Name\x3eENST00000373927.7,ENST00000373921.7,ENST00000328928.11,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.5086;1000g2015aug_all=0.472444;esp6500siv2_all=0.5188;ExAC_ALL=0.5906;ExAC_AFR=0.2203;ExAC_AMR=0.5304;ExAC_EAS=0.5385;ExAC_FIN=0.6072;ExAC_NFE=0.6315;ExAC_OTH=0.58;ExAC_SAS=0.7083;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3585,312,0 1 28209362 rs3766399 T C 4497.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=0.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=exonic;Gene=NM_001105556,NM_001286113,NM_001286115;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=THEMIS2:NM_001105556:exon4:c.T1527C:p.V509V,THEMIS2:NM_001286115:exon4:c.T939C:p.V313V,THEMIS2:NM_001286113:exon5:c.T1140C:p.V380V;Gencode=Name\x3eENST00000373927.7,ENST00000373921.7,ENST00000328928.11,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.5086;1000g2015aug_all=0.474441;esp6500siv2_all=0.5247;ExAC_ALL=0.5908;ExAC_AFR=0.2283;ExAC_AMR=0.5339;ExAC_EAS=0.5260;ExAC_FIN=0.6071;ExAC_NFE=0.6317;ExAC_OTH=0.5767;ExAC_SAS=0.7083;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:4526,304,0 1 28209366 rs3766400 A G 4542.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=exonic;Gene=NM_001105556,NM_001286113,NM_001286115;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E,THEMIS2:NM_001286115:exon4:c.A943G:p.K315E,THEMIS2:NM_001286113:exon5:c.A1144G:p.K382E;Gencode=Name\x3eENST00000373927.7,ENST00000328928.11,ENST00000373921.7,ENST00000373925.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.5029;1000g2015aug_all=0.450479;esp6500siv2_all=0.4808;ExAC_ALL=0.5829;ExAC_AFR=0.1511;ExAC_AMR=0.5262;ExAC_EAS=0.5262;ExAC_FIN=0.6073;ExAC_NFE=0.6304;ExAC_OTH=0.57;ExAC_SAS=0.7077;SIFT_score=0.532;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.83;MutationAssessor_pred=N;FATHMM_score=2.66;FATHMM_pred=T;phyloP100way_vertebrate=0.881;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=3.223;gerp++gt2=4.0;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:4571,310,0 1 28211650 rs1467464 T C 259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=0.776;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373921.7,ENST00000328928.11,ENST00000373925.5,ENST00000373927.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1467464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.389;1000g2015aug_all=0.458267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:288,0,155 1 28212272 rs11247705 G A 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.485;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.721;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEMIS2;Func=intronic;Gene=NM_001039477,NM_001105556,NM_001286113,NM_001286115,NM_004848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373927.7,ENST00000373925.5,ENST00000328928.11,ENST00000373921.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e318\x3bName\x3e"62045:MIR3(SINE)";avsnp150=rs11247705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.4063;1000g2015aug_all=0.480032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,18:31:99:529,0,336 1 28224312 rs2295367 C T 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPA2;Func=intronic;Gene=NM_001286076,NM_001297558,NM_002946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313433.11,ENST00000373909.7,ENST00000373912.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.3977;1000g2015aug_all=0.471845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:105,0,107 1 28254266 rs114187604 C A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001286076,NM_014474;GeneDetail=dist\x3e12958\x3bdist\x3e7200;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1425\x3bName\x3e"62179:MER4D(LTR)";avsnp150=rs114187604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 28261593 rs3737809 T C 1342.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.061;DP=95;ExcessHet=3.0103;FS=5.432;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.015;SOR=0.316;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=UTR5;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=NM_001009568:c.-102T>C\x3bNM_001304579:c.-19373T>C\x3bNM_014474:c.-102T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373888.8,ENST00000373894.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.298;1000g2015aug_amr=0.3588;1000g2015aug_all=0.359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,37:95:99:1371,0,3105 1 28261600 rs3737808 A C 1321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.562;DP=96;ExcessHet=3.0103;FS=6.848;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.896;SOR=0.388;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=UTR5;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=NM_001009568:c.-95A>C\x3bNM_001304579:c.-19366A>C\x3bNM_014474:c.-95A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373888.8,ENST00000373894.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1419;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.3026;1000g2015aug_all=0.231829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,37:96:99:1350,0,3125 1 28268438 rs116092460 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=intronic;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373888.8,ENST00000448015.1,ENST00000373894.7,ENST00000549094.1;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116092460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 28268573 rs10902678 C T 1045.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=2.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=intronic;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373888.8,ENST00000448015.1,ENST00000373894.7,ENST00000549094.1;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10902678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.82;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.7118;1000g2015aug_all=0.694089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:95:1074,95,0 1 28268706 rs4908341 G A 1214.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.572;DP=115;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.159;SOR=0.669;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=intronic;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373894.7,ENST00000549094.1,ENST00000448015.1,ENST00000373888.8;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4908341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.4236;1000g2015aug_all=0.457069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,47:115:99:1243,0,1886 1 28268835 rs5018921 A C 4078.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=1.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=intronic;Gene=NM_001009568,NM_001304579,NM_014474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373888.8,ENST00000448015.1,ENST00000549094.1,ENST00000373894.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5018921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.82;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.7118;1000g2015aug_all=0.694289;esp6500siv2_all=.;ExAC_ALL=0.7540;ExAC_AFR=0.5396;ExAC_AMR=0.6931;ExAC_EAS=0.7735;ExAC_FIN=0.6580;ExAC_NFE=0.7358;ExAC_OTH=0.7418;ExAC_SAS=0.8022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:4107,280,0 1 28282819 rs4908381 T C 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.672;DP=31;ExcessHet=3.0103;FS=1.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=-1.036;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMPDL3B;Func=UTR3;Gene=NM_001009568;GeneDetail=NM_001009568:c.*109T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448015.1,ENST00000373888.8,ENST00000549094.1,ENST00000373894.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e473\x3bName\x3e"62270:L2(LINE)";avsnp150=rs4908381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.9669;1000g2015aug_all=0.932508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,10:31:99:291,0,587 1 28290132 rs61743136 T C 1247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.507;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.35;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXKR8;Func=exonic;Gene=NM_018053;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=XKR8:NM_018053:exon2:c.T418C:p.L140L;Gencode=Name\x3eENST00000373884.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=Score\x3e0.933794\x3bName\x3echr7:4991879;Repeat=.;avsnp150=rs61743136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00798722;esp6500siv2_all=0.0130;ExAC_ALL=0.0125;ExAC_AFR=0.0221;ExAC_AMR=0.0129;ExAC_EAS=0;ExAC_FIN=0.0199;ExAC_NFE=0.0148;ExAC_OTH=0.0177;ExAC_SAS=0.0012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,55:110:99:1276,0,1409 1 28290231 rs4373781 C G 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.289;DP=65;ExcessHet=3.0103;FS=1.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=2.231;SOR=0.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXKR8;Func=intronic;Gene=NM_018053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373884.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=Score\x3e0.933794\x3bName\x3echr7:4991879;Repeat=.;avsnp150=rs4373781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.7262;1000g2015aug_amr=0.9035;1000g2015aug_all=0.827476;esp6500siv2_all=0.9086;ExAC_ALL=0.9126;ExAC_AFR=0.7786;ExAC_AMR=0.8967;ExAC_EAS=0.7532;ExAC_FIN=0.9290;ExAC_NFE=0.9607;ExAC_OTH=0.9038;ExAC_SAS=0.9143;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,35:65:99:1062,0,860 1 28300994 . C T 583.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.529;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEYA3;Func=exonic;Gene=NM_001282561,NM_001282562,NM_001990;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EYA3:NM_001282561:exon17:c.G1567A:p.E523K,EYA3:NM_001282562:exon17:c.G1546A:p.E516K,EYA3:NM_001990:exon18:c.G1705A:p.E569K;Gencode=Name\x3eENST00000540618.5,ENST00000373871.7,ENST00000436342.6,ENST00000373864.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.659;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.168;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=-3.4;FATHMM_pred=D;phyloP100way_vertebrate=7.905;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=17.130;gerp++gt2=4.94;CADD=7.534;CADD_Phred=34;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,22:56:99:612,0,930 1 28330703 rs191899953 T C 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.733;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.487;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEYA3;Func=intronic;Gene=NM_001282560,NM_001282561,NM_001282562,NM_001990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436342.6,ENST00000373864.5,ENST00000540618.5,ENST00000373863.3,ENST00000373871.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs191899953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,17:33:99:407,0,455 1 28331013 rs12139076 G A 188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.437;SOR=0.074;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEYA3;Func=intronic;Gene=NM_001282560,NM_001282561,NM_001282562,NM_001990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436342.6,ENST00000373864.5,ENST00000540618.5,ENST00000373871.7,ENST00000373863.3;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5785\x3bName\x3e"62390:L1M2(LINE)";avsnp150=rs12139076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.062;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0197684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:217,0,171 1 28346504 rs188800489 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEYA3;Func=intronic;Gene=NM_001282560,NM_001282561,NM_001282562,NM_001990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373864.5,ENST00000436342.6,ENST00000373863.3,ENST00000373871.7,ENST00000540618.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2025\x3bName\x3e"62428:AluSq2(SINE)";avsnp150=rs188800489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 28369279 rs2476547 G A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEYA3;Func=intronic;Gene=NM_001282560,NM_001282561,NM_001282562,NM_001990;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373864.5,ENST00000436342.6,ENST00000373863.3,ENST00000373871.7,ENST00000540618.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2476547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.5476;1000g2015aug_all=0.654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 28422847 rs2989472 C T 1038.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001990,NM_001164722;GeneDetail=dist\x3e7699\x3bdist\x3e50830;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=Score\x3e0.945113\x3bName\x3echr15:43131043;Repeat=.;avsnp150=rs2989472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.5807;1000g2015aug_all=0.717053;esp6500siv2_all=.;ExAC_ALL=0.6510;ExAC_AFR=0.7625;ExAC_AMR=0.5632;ExAC_EAS=0.8520;ExAC_FIN=0.6346;ExAC_NFE=0.6296;ExAC_OTH=0.6077;ExAC_SAS=0.6381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1067,105,0 1 28422913 rs78156697 C T 273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.856;DP=27;ExcessHet=3.0103;FS=1.599;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=1.055;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001990,NM_001164722;GeneDetail=dist\x3e7765\x3bdist\x3e50764;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78156697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=0.0236;ExAC_AFR=0.0608;ExAC_AMR=0.0162;ExAC_EAS=0;ExAC_FIN=0.0152;ExAC_NFE=0.0302;ExAC_OTH=0.0123;ExAC_SAS=0.0098;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:302,0,530 1 28563008 rs2232720 G T 835.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.749;DP=58;ExcessHet=3.0103;FS=2.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.118;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPIF1;Func=UTR3;Gene=NM_178191;GeneDetail=NM_178191:c.*41G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335514.9,ENST00000497986.5,ENST00000465645.1,ENST00000468425.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0086;1000g2015aug_all=0.0129792;esp6500siv2_all=0.0218;ExAC_ALL=0.0245;ExAC_AFR=0.0059;ExAC_AMR=0.0222;ExAC_EAS=0;ExAC_FIN=0.0373;ExAC_NFE=0.0321;ExAC_OTH=0.0330;ExAC_SAS=0.0151;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,33:58:99:864,0,650 1 28806965 rs72661785 G C 214.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.473;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.644;SOR=0.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHACTR4;Func=exonic;Gene=NM_001048183,NM_001350158,NM_001350159,NM_001350160,NM_001350161,NM_023923;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PHACTR4:NM_023923:exon8:c.G1639C:p.A547P,PHACTR4:NM_001048183:exon9:c.G1609C:p.A537P,PHACTR4:NM_001350158:exon10:c.G1633C:p.A545P,PHACTR4:NM_001350160:exon10:c.G1609C:p.A537P,PHACTR4:NM_001350161:exon10:c.G1561C:p.A521P,PHACTR4:NM_001350159:exon11:c.G1633C:p.A545P;Gencode=Name\x3eENST00000373836.4,ENST00000373839.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72661785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0119;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00359425;esp6500siv2_all=0.0098;ExAC_ALL=0.0086;ExAC_AFR=0.0021;ExAC_AMR=0.0074;ExAC_EAS=0;ExAC_FIN=0.0050;ExAC_NFE=0.0127;ExAC_OTH=0.0100;ExAC_SAS=0.0024;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.917;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.791;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.08;MutationAssessor_pred=M;FATHMM_score=1.78;FATHMM_pred=T;phyloP100way_vertebrate=2.452;phyloP20way_mammalian=0.891;SiPhy_29way_logOdds=6.716;gerp++gt2=5.43;CADD=5.536;CADD_Phred=26.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:243,0,445 1 28879557 rs78405969 C A 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.003;DP=26;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.412;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRNAU1AP;Func=UTR5;Gene=NM_017846;GeneDetail=NM_017846:c.-66C>A;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78405969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0199;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:410,0,507 1 29016716 rs6678913 T G 51.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.18;ReadPosRankSum=0.825;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGMEB1;Func=intronic;Gene=NM_001319674,NM_006582,NM_024482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361872.8,ENST00000294409.2,ENST00000373816.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"64580:(T)n(Simple_repeat)";avsnp150=rs6678913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.591;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.5043;1000g2015aug_all=0.442292;esp6500siv2_all=0.0565;ExAC_ALL=0.4903;ExAC_AFR=0.2803;ExAC_AMR=0.5977;ExAC_EAS=0.6720;ExAC_FIN=0.5121;ExAC_NFE=0.4582;ExAC_OTH=0.4395;ExAC_SAS=0.5345;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:80:80,0,165 1 29019724 rs4654365 G A 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.484;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGMEB1;Func=intronic;Gene=NM_001319674,NM_006582,NM_024482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373816.5,ENST00000361872.8,ENST00000294409.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.171;1000g2015aug_amr=0.5418;1000g2015aug_all=0.483227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:207,0,234 1 29040799 rs16837667 A G 1530.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.138;DP=105;ExcessHet=3.0103;FS=4.98;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.654;SOR=1.259;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGMEB1;Func=exonic;Gene=NM_001319674,NM_006582,NM_024482;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GMEB1:NM_001319674:exon10:c.A1206G:p.P402P,GMEB1:NM_006582:exon10:c.A1236G:p.P412P,GMEB1:NM_024482:exon10:c.A1206G:p.P402P;Gencode=Name\x3eENST00000373816.5,ENST00000294409.2,ENST00000361872.8;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16837667;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00219649;esp6500siv2_all=0.0058;ExAC_ALL=0.0063;ExAC_AFR=0.0013;ExAC_AMR=0.0043;ExAC_EAS=0.0001;ExAC_FIN=0.0008;ExAC_NFE=0.0082;ExAC_OTH=0.0022;ExAC_SAS=0.0090;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,52:104:99:1559,0,1378 1 29063559 rs6697540 A C 2132.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYTHDF2;Func=UTR5;Gene=NM_001172828,NM_001173128,NM_016258;GeneDetail=NM_001172828:c.-5374A>C\x3bNM_001173128:c.-74A>C\x3bNM_016258:c.-74A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621244.1,ENST00000373812.7,ENST00000541996.5,ENST00000542507.5;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.9856;1000g2015aug_all=0.961262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2161,203,0 1 29132216 rs879891361 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.88;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001173128,NM_000911;GeneDetail=dist\x3e35929\x3bdist\x3e6438;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs879891361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 29138975 rs1042114 G T 1436.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=1.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPRD1;Func=exonic;Gene=NM_000911;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OPRD1:NM_000911:exon1:c.G80T:p.C27F;Gencode=Name\x3eENST00000621425.1,ENST00000234961.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1042114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9193;1000g2015aug_all=0.944489;esp6500siv2_all=0.9158;ExAC_ALL=0.9198;ExAC_AFR=0.9626;ExAC_AMR=0.9532;ExAC_EAS=1;ExAC_FIN=0.9086;ExAC_NFE=0.8871;ExAC_OTH=0.9009;ExAC_SAS=0.9423;SIFT_score=0.711;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.074;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=-0.28;FATHMM_pred=T;phyloP100way_vertebrate=0.260;phyloP20way_mammalian=0.035;SiPhy_29way_logOdds=3.811;gerp++gt2=2.89;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1465,126,0 1 29139202 rs112827498 G T 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.604;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.022;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPRD1;Func=intronic;Gene=NM_000911;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621425.1,ENST00000234961.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112827498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0399;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0395367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:595,0,777 1 29143516 rs72887701 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPRD1;Func=intronic;Gene=NM_000911;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234961.6,ENST00000621425.1;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72887701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0399;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.0461;1000g2015aug_all=0.076877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 29167161 rs527931 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPRD1;Func=intronic;Gene=NM_000911;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621425.1,ENST00000234961.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2313\x3bName\x3e"65036:AluSx1(SINE)";avsnp150=rs527931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.8963;1000g2015aug_all=0.88758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 29435829 rs41266199 G C 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.554;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-0.622;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPB41;Func=intronic;Gene=NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373798.5,ENST00000347529.7,ENST00000349460.8,ENST00000356093.6,ENST00000373800.7,ENST00000343067.8;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41266199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0139;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00359425;esp6500siv2_all=0.0125;ExAC_ALL=0.0104;ExAC_AFR=0.0024;ExAC_AMR=0.0042;ExAC_EAS=0;ExAC_FIN=0.0032;ExAC_NFE=0.0166;ExAC_OTH=0.0090;ExAC_SAS=0.0034;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,29:43:99:837,0,319 1 29448596 rs112665256 G T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.414;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM200B;Func=intronic;Gene=NM_001003682,NM_001171868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521452.1,ENST00000420504.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112665256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.062;1000g2015aug_all=0.0710863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:96:185,0,96 1 29474134 rs2452782 A C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_005626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2204\x3bName\x3e"65875:AluSg(SINE)";avsnp150=rs2452782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.745;1000g2015aug_all=0.720647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 29475341 rs2230678 C T 770.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF4;Func=exonic;Gene=NM_005626;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SRSF4:NM_005626:exon6:c.G1066A:p.G356S;Gencode=Name\x3eENST00000373795.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e71\x3bName\x3e"65876:(TCCTGC)n(Simple_repeat)";avsnp150=rs2230678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.5447;1000g2015aug_all=0.495008;esp6500siv2_all=0.7342;ExAC_ALL=0.6603;ExAC_AFR=0.5974;ExAC_AMR=0.5223;ExAC_EAS=0.1629;ExAC_FIN=0.7669;ExAC_NFE=0.7815;ExAC_OTH=0.6620;ExAC_SAS=0.5038;SIFT_score=0.416;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.963;LRT_pred=N;MutationTaster_score=0.866;MutationTaster_pred=P;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=3.77;FATHMM_pred=T;phyloP100way_vertebrate=0.496;phyloP20way_mammalian=0.013;SiPhy_29way_logOdds=9.548;gerp++gt2=3.76;CADD=1.535;CADD_Phred=13.50;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:799,63,0 1 29475394 rs2230677 C G 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.82;QD=35.44;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF4;Func=exonic;Gene=NM_005626;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SRSF4:NM_005626:exon6:c.G1013C:p.G338A;Gencode=Name\x3eENST00000373795.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e71\x3bName\x3e"65876:(TCCTGC)n(Simple_repeat)";avsnp150=rs2230677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.5447;1000g2015aug_all=0.495208;esp6500siv2_all=0.7340;ExAC_ALL=0.6586;ExAC_AFR=0.5957;ExAC_AMR=0.5187;ExAC_EAS=0.1594;ExAC_FIN=0.7685;ExAC_NFE=0.7823;ExAC_OTH=0.6605;ExAC_SAS=0.5027;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.674;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=2.64;FATHMM_pred=T;phyloP100way_vertebrate=0.418;phyloP20way_mammalian=-0.517;SiPhy_29way_logOdds=2.466;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 29475648 rs2230679 T G 678.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF4;Func=exonic;Gene=NM_005626;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SRSF4:NM_005626:exon6:c.A759C:p.E253D;Gencode=Name\x3eENST00000373795.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.745;1000g2015aug_all=0.720248;esp6500siv2_all=0.8493;ExAC_ALL=0.8179;ExAC_AFR=0.7488;ExAC_AMR=0.7386;ExAC_EAS=0.5665;ExAC_FIN=0.9015;ExAC_NFE=0.8862;ExAC_OTH=0.8238;ExAC_SAS=0.7388;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=2.58;FATHMM_pred=T;phyloP100way_vertebrate=-1.476;phyloP20way_mammalian=-0.905;SiPhy_29way_logOdds=1.100;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:707,63,0 1 29488290 rs471895 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF4;Func=intronic;Gene=NM_005626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373795.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2118\x3bName\x3e"65912:AluSx(SINE)";avsnp150=rs471895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.1484;1000g2015aug_all=0.127995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 29508350 rs571016 C T 440.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF4;Func=UTR5;Gene=NM_005626;GeneDetail=NM_005626:c.-86G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373795.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"65946:(GGC)n(Simple_repeat)";avsnp150=rs571016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.1484;1000g2015aug_all=0.127596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:469,36,0 1 29529699 rs1062924 T C 3423.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=exonic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A;Gencode=Name\x3eENST00000373791.7,ENST00000263702.10;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1062924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.8807;1000g2015aug_afr=0.8238;1000g2015aug_amr=0.7493;1000g2015aug_all=0.746805;esp6500siv2_all=0.8763;ExAC_ALL=0.8089;ExAC_AFR=0.8296;ExAC_AMR=0.7316;ExAC_EAS=0.5825;ExAC_FIN=0.8866;ExAC_NFE=0.8749;ExAC_OTH=0.7946;ExAC_SAS=0.7360;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3452,318,0 1 29533080 rs2503017 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=intronic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263702.10,ENST00000373791.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2503017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.2061;1000g2015aug_all=0.211861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 29533601 rs2452785 C T 919.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.9;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=intronic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263702.10,ENST00000373791.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2452785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.559;1000g2015aug_amr=0.5447;1000g2015aug_all=0.494609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:948,69,0 1 29542435 rs2640469 C G 2723.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=2.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=intronic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373791.7,ENST00000263702.10;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2640469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9861;1000g2015aug_afr=0.882;1000g2015aug_amr=0.938;1000g2015aug_all=0.889776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2752,234,0 1 29542637 rs1128400 A G 4141.77 PASS AC=2;AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=exonic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L;Gencode=Name\x3eENST00000373791.7,ENST00000263702.10;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1128400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.7334;1000g2015aug_all=0.718051;esp6500siv2_all=0.8488;ExAC_ALL=0.8168;ExAC_AFR=0.7466;ExAC_AMR=0.7374;ExAC_EAS=0.5670;ExAC_FIN=0.8992;ExAC_NFE=0.8849;ExAC_OTH=0.8205;ExAC_SAS=0.7388;SIFT_score=0.679;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.055;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=0.049;phyloP20way_mammalian=0.128;SiPhy_29way_logOdds=4.877;gerp++gt2=.;CADD=1.453;CADD_Phred=13.07;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:4170,340,0 1 29542926 rs3003636 A T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=intronic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373791.7,ENST00000263702.10;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3003636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.7334;1000g2015aug_all=0.718051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 29557224 rs2640466 C T 2540.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.3;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMECR;Func=intronic;Gene=NM_001024732,NM_001349711,NM_001349712,NM_001349713,NM_001349714,NM_001349715,NM_001349716,NM_001349717,NM_016011;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263702.10,ENST00000373791.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2640466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.7161;1000g2015aug_all=0.700479;esp6500siv2_all=0.8277;ExAC_ALL=0.7924;ExAC_AFR=0.7287;ExAC_AMR=0.7474;ExAC_EAS=0.5962;ExAC_FIN=0.9101;ExAC_NFE=0.8617;ExAC_OTH=0.7559;ExAC_SAS=0.7321;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2569,230,0 1 29563015 rs3103883 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3103883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 29586188 rs72649289 C T 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000345512.7,ENST00000460170.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72649289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.089;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0383387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 29605646 rs72651203 C T 1113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.047;DP=95;ExcessHet=3.0103;FS=0.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.627;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000345512.7,ENST00000460170.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72651203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.089;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.0303;1000g2015aug_all=0.052516;esp6500siv2_all=0.0522;ExAC_ALL=0.0705;ExAC_AFR=0.0833;ExAC_AMR=0.0573;ExAC_EAS=0.0032;ExAC_FIN=0.1228;ExAC_NFE=0.0693;ExAC_OTH=0.0642;ExAC_SAS=0.0735;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,39:94:99:1142,0,1521 1 29616318 rs2076620 C A 253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.537;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.329;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373779.7,ENST00000460170.2,ENST00000345512.7,ENST00000428026.6;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.1902;1000g2015aug_all=0.141973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:282,0,407 1 29618146 rs61783730 T C 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000345512.7,ENST00000460170.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61783730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0335463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 29637136 rs2235939 T C 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.912;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.088;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000460170.2,ENST00000345512.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.649;1000g2015aug_amr=0.4856;1000g2015aug_all=0.567692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:239,0,373 1 29637318 rs6671919 G A 944.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.519;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.821;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000460170.2,ENST00000345512.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0845;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0263578;esp6500siv2_all=0.0647;ExAC_ALL=0.0618;ExAC_AFR=0.0128;ExAC_AMR=0.0267;ExAC_EAS=0.0003;ExAC_FIN=0.1236;ExAC_NFE=0.0909;ExAC_OTH=0.0551;ExAC_SAS=0.0078;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,37:73:99:973,0,950 1 29642318 rs2179795 G T 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.611;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000460170.2,ENST00000345512.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2179795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.3646;1000g2015aug_all=0.314497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,164 1 29649874 rs10915252 T C 604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.228;DP=41;ExcessHet=3.0103;FS=1.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.355;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000460170.2,ENST00000345512.7,ENST00000373779.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.547;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.4265;1000g2015aug_all=0.451278;esp6500siv2_all=0.3643;ExAC_ALL=0.4294;ExAC_AFR=0.4071;ExAC_AMR=0.4997;ExAC_EAS=0.5669;ExAC_FIN=0.4298;ExAC_NFE=0.3772;ExAC_OTH=0.4296;ExAC_SAS=0.5265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,23:41:99:633,0,458 1 29651053 rs10915253 A T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000345512.7,ENST00000460170.2;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.4265;1000g2015aug_all=0.450679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 29652068 rs2076618 T C 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.835;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.292;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRU;Func=intronic;Gene=NM_001195001,NM_005704,NM_133177,NM_133178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428026.6,ENST00000373779.7,ENST00000460170.2,ENST00000345512.7;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.4168;1000g2015aug_amr=0.4294;1000g2015aug_all=0.46845;esp6500siv2_all=0.3864;ExAC_ALL=0.4151;ExAC_AFR=0.4417;ExAC_AMR=0.4893;ExAC_EAS=0.5633;ExAC_FIN=0.4070;ExAC_NFE=0.3551;ExAC_OTH=0.4335;ExAC_SAS=0.5142;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,18:42:99:558,0,604 1 29696060 rs56203706 T C 276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.861;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.425;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e19434\x3bdist\x3e644404;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56203706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.4891;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.379;1000g2015aug_all=0.488618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:305,0,274 1 29718655 rs4654337 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e42029\x3bdist\x3e621809;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.507;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.5331;1000g2015aug_all=0.383387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 29721862 rs383699 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e45236\x3bdist\x3e618602;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs383699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9568;1000g2015aug_all=0.954473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 29743391 rs6426360 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e66765\x3bdist\x3e597073;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.8991;1000g2015aug_all=0.918131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 29743408 rs6657309 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e66782\x3bdist\x3e597056;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.6944;1000g2015aug_amr=0.6744;1000g2015aug_all=0.670927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 29767622 rs58622700 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e90996\x3bdist\x3e572842;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2052\x3bName\x3e"66568:AluJr(SINE)";avsnp150=rs58622700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.229;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.3112;1000g2015aug_all=0.353035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 29842261 rs10915168 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e165635\x3bdist\x3e498203;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e55\x3bName\x3e"66738:(CCT)n(Simple_repeat)";avsnp150=rs10915168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30113436 rs9439756 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e290475\x3bdist\x3e373363;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9439756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.1556;1000g2015aug_all=0.251797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 30144646 rs1975432 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e321685\x3bdist\x3e342153;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1975432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.319;1000g2015aug_eur=0.3449;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.3372;1000g2015aug_all=0.248602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30222546 rs920599 T C 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e399585\x3bdist\x3e264253;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e201\x3bName\x3e"67254:MIRc(SINE)";avsnp150=rs920599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9914;1000g2015aug_all=0.977236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 30351091 rs6425701 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e528130\x3bdist\x3e135708;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7799;1000g2015aug_amr=0.9496;1000g2015aug_all=0.914137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30351125 rs4949229 A G 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e528164\x3bdist\x3e135674;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.9524;1000g2015aug_all=0.914936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 30367470 rs4949511 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e544509\x3bdist\x3e119329;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e194\x3bName\x3e"67548:L2b(LINE)";avsnp150=rs4949511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.7799;1000g2015aug_amr=0.9179;1000g2015aug_all=0.865615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 30380136 rs873894 G A 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e557175\x3bdist\x3e106663;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e954\x3bName\x3e"67576:L2a(LINE)";avsnp150=rs873894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.494;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.5115;1000g2015aug_all=0.343251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 30399634 rs155635 C T 101.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e576673\x3bdist\x3e87165;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs155635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.7435;1000g2015aug_all=0.719848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:129,12,0 1 30434937 rs12044736 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e611976\x3bdist\x3e51862;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e527\x3bName\x3e"67706:L2b(LINE)";avsnp150=rs12044736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.664;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.5043;1000g2015aug_all=0.440495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 30472001 rs7541691 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110758,NR_110790;GeneDetail=dist\x3e649040\x3bdist\x3e14798;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.5173;1000g2015aug_all=0.490016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30657057 rs4949551 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e146598\x3bdist\x3e527067;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.833;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.7205;1000g2015aug_all=0.846246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 30676922 rs28453847 G A 171.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.362;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.172;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e166463\x3bdist\x3e507202;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1964\x3bName\x3e"68211:HERVH-int(LTR)";avsnp150=rs28453847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.329;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2392;1000g2015aug_all=0.146565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:99:200,0,121 1 30676923 rs6659456 A C 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.362;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.086;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e166464\x3bdist\x3e507201;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1964\x3bName\x3e"68211:HERVH-int(LTR)";avsnp150=rs6659456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.41;1000g2015aug_eur=0.333;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.268;1000g2015aug_all=0.417532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:120,0,365 1 30676925 rs6693700 G A 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.984;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e166466\x3bdist\x3e507199;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1964\x3bName\x3e"68211:HERVH-int(LTR)";avsnp150=rs6693700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.41;1000g2015aug_eur=0.335;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.268;1000g2015aug_all=0.420527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:120,0,365 1 30745709 rs466653 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e235250\x3bdist\x3e438415;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e433\x3bName\x3e"68362:L2a(LINE)";avsnp150=rs466653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.136;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.1182;1000g2015aug_all=0.204473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30818205 rs10915085 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e307746\x3bdist\x3e365919;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2290\x3bName\x3e"68511:AluSz(SINE)";avsnp150=rs10915085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.546;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.6974;1000g2015aug_all=0.619409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 30840168 rs4949261 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e329709\x3bdist\x3e343956;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.546;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.696;1000g2015aug_all=0.597444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 30857190 rs2377284 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e346731\x3bdist\x3e326934;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2377284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.3732;1000g2015aug_all=0.452077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 30857200 rs2377285 A G 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e346741\x3bdist\x3e326924;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2377285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.665;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.3991;1000g2015aug_all=0.51877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 30891860 rs35500178 G C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e381401\x3bdist\x3e292264;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420354.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35500178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.5908;1000g2015aug_all=0.497604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 30993846 rs432749 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e483387\x3bdist\x3e190278;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1729\x3bName\x3e"68853:AluSq2(SINE)";avsnp150=rs432749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9424;1000g2015aug_all=0.926118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31023291 rs3104434 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e512832\x3bdist\x3e160833;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e686\x3bName\x3e"68920:MER52D(LTR)";avsnp150=rs3104434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6022;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.8199;1000g2015aug_all=0.792332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 31023303 rs3104433 C G 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e512844\x3bdist\x3e160821;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3104433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.9304;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.8199;1000g2015aug_all=0.792931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 31035498 rs3104424 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e525039\x3bdist\x3e148626;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3414\x3bName\x3e"68943:MER51E(LTR)";avsnp150=rs3104424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.618;1000g2015aug_amr=0.7392;1000g2015aug_all=0.657348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 31075185 rs2101968 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e564726\x3bdist\x3e108939;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2101968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.503;1000g2015aug_amr=0.7133;1000g2015aug_all=0.630391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31109448 rs2377369 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e598989\x3bdist\x3e74676;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2377369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.7205;1000g2015aug_all=0.622204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31109479 rs486532 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e599020\x3bdist\x3e74645;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs486532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.772;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.6241;1000g2015aug_amr=0.7536;1000g2015aug_all=0.683906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 31165444 rs4949286 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110790,NM_002379;GeneDetail=dist\x3e654985\x3bdist\x3e18680;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.292;1000g2015aug_amr=0.3473;1000g2015aug_all=0.384585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31186254 rs1188405 A G 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.113;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=UTR3;Gene=NM_002379;GeneDetail=NM_002379:c.*175T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e40\x3bName\x3e"69254:(CA)n(Simple_repeat)";avsnp150=rs1188405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.3701;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.6758;1000g2015aug_all=0.593251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:227,0,520 1 31187807 rs1188406 C G 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=-0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=intronic;Gene=NM_002379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e443\x3bName\x3e"69257:MIR(SINE)";avsnp150=rs1188406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.3701;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.9387;1000g2015aug_amr=0.6844;1000g2015aug_all=0.630591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:63:156,0,63 1 31188089 rs1065755 C T 1167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.333;DP=132;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.416;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=exonic;Gene=NM_002379;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MATN1:NM_002379:exon6:c.G1275A:p.E425E;Gencode=Name\x3eENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1065755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.4121;1000g2015aug_all=0.28754;esp6500siv2_all=0.3232;ExAC_ALL=0.3253;ExAC_AFR=0.2791;ExAC_AMR=0.4120;ExAC_EAS=0.1700;ExAC_FIN=0.4094;ExAC_NFE=0.3391;ExAC_OTH=0.3135;ExAC_SAS=0.2860;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,52:132:99:1196,0,2093 1 31188901 rs20566 A G 1063.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.139;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.665;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=exonic;Gene=NM_002379;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MATN1:NM_002379:exon5:c.T1062C:p.T354T;Gencode=Name\x3eENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.3701;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.6787;1000g2015aug_all=0.604233;esp6500siv2_all=0.5615;ExAC_ALL=0.5111;ExAC_AFR=0.7819;ExAC_AMR=0.7223;ExAC_EAS=0.5979;ExAC_FIN=0.5407;ExAC_NFE=0.4531;ExAC_OTH=0.4714;ExAC_SAS=0.3720;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,42:96:99:1092,0,1485 1 31191466 rs1188393 G C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=intronic;Gene=NM_002379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373765.4,ENST00000414532.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.6844;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 31191516 rs10914186 G C 101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.777;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.346;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1;Func=intronic;Gene=NM_002379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414532.6,ENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.264;1000g2015aug_amr=0.4135;1000g2015aug_all=0.289537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:130,0,135 1 31194784 rs74765249 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-2.189;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1,MATN1-AS1;Func=ncRNA_intronic;Gene=NR_034182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414532.6,ENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74765249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.1282;1000g2015aug_all=0.136382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 31196255 rs45601237 G A 554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.929;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.127;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMATN1-AS1,MATN1;Func=ncRNA_intronic;Gene=NR_034182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414532.6,ENST00000373765.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45601237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.335;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.2032;1000g2015aug_all=0.221446;esp6500siv2_all=0.2238;ExAC_ALL=0.3414;ExAC_AFR=0.0789;ExAC_AMR=0.2769;ExAC_EAS=0.1975;ExAC_FIN=0.375;ExAC_NFE=0.3633;ExAC_OTH=0.3861;ExAC_SAS=0.4170;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:583,0,545 1 31206637 rs3795438 C T 1256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.523;DP=77;ExcessHet=3.0103;FS=10.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.189;SOR=1.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=UTR3;Gene=NM_006762;GeneDetail=NM_006762:c.*38G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1037;1000g2015aug_all=0.106629;esp6500siv2_all=0.1811;ExAC_ALL=0.2220;ExAC_AFR=0.0547;ExAC_AMR=0.1077;ExAC_EAS=0.1000;ExAC_FIN=0.3197;ExAC_NFE=0.2845;ExAC_OTH=0.2529;ExAC_SAS=0.1628;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,40:77:99:1285,0,1121 1 31206806 rs3795437 T C 1769.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=135;ExcessHet=3.0103;FS=5.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.202;SOR=1.149;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.3069;1000g2015aug_all=0.358027;esp6500siv2_all=0.3247;ExAC_ALL=0.3179;ExAC_AFR=0.4263;ExAC_AMR=0.3763;ExAC_EAS=0.5078;ExAC_FIN=0.3756;ExAC_NFE=0.2928;ExAC_OTH=0.3299;ExAC_SAS=0.1984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,68:135:99:1798,0,1639 1 31206957 rs12404920 T C 201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-1.032;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1667\x3bName\x3e"69294:MLT1K(LTR)";avsnp150=rs12404920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.3055;1000g2015aug_all=0.357827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:230,0,477 1 31207781 rs10914189 C T 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.308;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.071;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e541\x3bName\x3e"69296:L2c(LINE)";avsnp150=rs10914189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.281;1000g2015aug_all=0.288538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:272,0,336 1 31208042 rs35351292 C T 1276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.652;DP=86;ExcessHet=3.0103;FS=0.839;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.956;SOR=0.854;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=exonic;Gene=NM_006762;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAPTM5:NM_006762:exon7:c.G677A:p.R226K;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35351292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.1124;1000g2015aug_all=0.115415;esp6500siv2_all=0.1954;ExAC_ALL=0.1979;ExAC_AFR=0.0728;ExAC_AMR=0.0911;ExAC_EAS=0.0809;ExAC_FIN=0.2842;ExAC_NFE=0.2552;ExAC_OTH=0.2236;ExAC_SAS=0.1456;SIFT_score=0.892;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_pred=B;LRT_score=0.618;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.96;FATHMM_pred=T;phyloP100way_vertebrate=-0.499;phyloP20way_mammalian=-0.416;SiPhy_29way_logOdds=1.383;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,51:86:99:1305,0,849 1 31210855 rs1590340 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e927\x3bName\x3e"69306:LTR16A1(LTR)";avsnp150=rs1590340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.7695;1000g2015aug_all=0.678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 31214820 rs12754344 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e429\x3bName\x3e"69316:L2b(LINE)";avsnp150=rs12754344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.2572;1000g2015aug_amr=0.3905;1000g2015aug_all=0.355431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:69:71,0,69 1 31215364 rs1050663 T C 1920.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.301;DP=162;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.172;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=exonic;Gene=NM_006762;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAPTM5:NM_006762:exon2:c.A120G:p.S40S;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1050663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.6873;1000g2015aug_all=0.604633;esp6500siv2_all=0.5231;ExAC_ALL=0.5520;ExAC_AFR=0.6052;ExAC_AMR=0.7461;ExAC_EAS=0.6951;ExAC_FIN=0.5821;ExAC_NFE=0.4887;ExAC_OTH=0.5466;ExAC_SAS=0.5521;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:89,73:162:99:1949,0,2447 1 31230195 rs1407882 T C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAPTM5;Func=intronic;Gene=NM_006762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294507.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1407882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.67;1000g2015aug_all=0.695687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 31287054 rs12092694 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006762,NR_146732;GeneDetail=dist\x3e56371\x3bdist\x3e10445;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000440358.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12092694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.1012;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.2579;1000g2015aug_all=0.173123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 31297519 rs746700 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_146732;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430320.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs746700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.764;1000g2015aug_amr=0.8646;1000g2015aug_all=0.78774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 31322475 rs11581601 C T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146732,NM_014654;GeneDetail=dist\x3e15344\x3bdist\x3e19838;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11581601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.007;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00279553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:28:108,0,28 1 31409898 rs72884036 C T 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.484;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUM1;Func=intronic;Gene=NM_001020658,NM_014676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426105.6,ENST00000424085.6,ENST00000373742.6,ENST00000257075.9,ENST00000373747.7,ENST00000373741.8,ENST00000440538.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72884036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.1484;1000g2015aug_all=0.379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:145,0,104 1 31422799 rs2275740 C T 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.239;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.326;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUM1;Func=intronic;Gene=NM_001020658,NM_014676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257075.9,ENST00000426105.6,ENST00000424085.6,ENST00000373742.6,ENST00000440538.6,ENST00000373747.7,ENST00000373741.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.1182;1000g2015aug_all=0.287939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:328,0,190 1 31439860 rs45439195 G A 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.464;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUM1;Func=intronic;Gene=NM_001020658,NM_014676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426105.6,ENST00000373742.6,ENST00000424085.6,ENST00000257075.9,ENST00000373747.7,ENST00000373741.8,ENST00000440538.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45439195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0092;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 31440921 rs4317854 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUM1;Func=intronic;Gene=NM_001020658,NM_014676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373747.7,ENST00000373741.8,ENST00000440538.6,ENST00000426105.6,ENST00000373742.6,ENST00000424085.6,ENST00000257075.9;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4317854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.666;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.6715;1000g2015aug_all=0.83127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 31445932 rs2491135 C G 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.674;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePUM1;Func=intronic;Gene=NM_001020658,NM_014676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000440538.6,ENST00000373741.8,ENST00000373747.7,ENST00000257075.9,ENST00000373742.6,ENST00000424085.6,ENST00000426105.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2398\x3bName\x3e"69928:AluSq2(SINE)";avsnp150=rs2491135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.6354;1000g2015aug_all=0.767572;esp6500siv2_all=.;ExAC_ALL=0.5551;ExAC_AFR=0.6;ExAC_AMR=0.5;ExAC_EAS=0.8095;ExAC_FIN=.;ExAC_NFE=0.4613;ExAC_OTH=0.375;ExAC_SAS=0.5801;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:64,0,30 1 31654305 rs4949357 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNKAIN1;Func=UTR3;Gene=NM_024522;GeneDetail=NM_024522:c.*245G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373736.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"70571:A-rich(Low_complexity)";avsnp150=rs4949357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.118;1000g2015aug_amr=0.5303;1000g2015aug_all=0.418331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31654940 rs2297959 C T 632.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.12;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNKAIN1;Func=intronic;Gene=NM_024522;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373736.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.118;1000g2015aug_amr=0.5303;1000g2015aug_all=0.418331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:661,51,0 1 31682601 rs2377714 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNKAIN1;Func=intronic;Gene=NM_024522;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373736.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1918\x3bName\x3e"70661:AluJb(SINE)";avsnp150=rs2377714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.7695;1000g2015aug_all=0.683107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31712314 rs12025507 C T 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.323;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=1.381;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNKAIN1;Func=intronic;Gene=NM_024522;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373736.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12025507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.3242;1000g2015aug_all=0.275559;esp6500siv2_all=.;ExAC_ALL=0.3787;ExAC_AFR=0.1273;ExAC_AMR=0.2;ExAC_EAS=0.5;ExAC_FIN=.;ExAC_NFE=0.3026;ExAC_OTH=0.2424;ExAC_SAS=0.4092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:385,0,127 1 31733782 rs10914338 T A 947.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.237;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.49;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8,ENST00000373720.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.5144;1000g2015aug_all=0.411342;esp6500siv2_all=.;ExAC_ALL=0.5009;ExAC_AFR=0.5179;ExAC_AMR=0.6667;ExAC_EAS=0.2237;ExAC_FIN=.;ExAC_NFE=0.6354;ExAC_OTH=0.5357;ExAC_SAS=0.4542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,31:50:99:976,0,513 1 31733926 rs12121460 A G 1204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.05;DP=83;ExcessHet=3.0103;FS=0.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.243;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373720.3,ENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2051\x3bName\x3e"70841:AluSx1(SINE)";avsnp150=rs12121460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.591;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.6657;1000g2015aug_all=0.698482;esp6500siv2_all=.;ExAC_ALL=0.6794;ExAC_AFR=0.8172;ExAC_AMR=0.7889;ExAC_EAS=0.5303;ExAC_FIN=.;ExAC_NFE=0.7635;ExAC_OTH=0.7982;ExAC_SAS=0.6449;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,46:82:99:1233,0,822 1 31740668 rs3753374 C T 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.108;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8,ENST00000373720.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2237\x3bName\x3e"70852:AluSp(SINE)";avsnp150=rs3753374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.4726;1000g2015aug_all=0.302716;esp6500siv2_all=0.4688;ExAC_ALL=0.5011;ExAC_AFR=0.1370;ExAC_AMR=0.4657;ExAC_EAS=0.1753;ExAC_FIN=0.5729;ExAC_NFE=0.6335;ExAC_OTH=0.5308;ExAC_SAS=0.3605;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:69:118,0,69 1 31740706 rs3753373 A G 73.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.691;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=0.353;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373720.3,ENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.408;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.3242;1000g2015aug_all=0.27496;esp6500siv2_all=0.1743;ExAC_ALL=0.2519;ExAC_AFR=0.0937;ExAC_AMR=0.3601;ExAC_EAS=0.4798;ExAC_FIN=0.2215;ExAC_NFE=0.2030;ExAC_OTH=0.2390;ExAC_SAS=0.3669;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:102,0,261 1 31744168 rs3737755 G A 203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.832;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.065;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.056;1000g2015aug_amr=0.4726;1000g2015aug_all=0.303115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:232,0,132 1 31754511 rs4949374 G C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.247;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5144;1000g2015aug_all=0.447085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,322 1 31761860 rs7518863 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2342\x3bName\x3e"70908:AluY(SINE)";avsnp150=rs7518863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3442;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5144;1000g2015aug_all=0.446685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 31761936 rs7521463 T A 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.378;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=1.417;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3442;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5144;1000g2015aug_all=0.446685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:316,0,188 1 31761989 rs1532859 G A 1039.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1532859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.947;1000g2015aug_amr=0.9986;1000g2015aug_all=0.985823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1068,90,0 1 31762374 rs1532858 C T 427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.707;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.319;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1532858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.593;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6715;1000g2015aug_all=0.704273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:456,0,453 1 31764693 rs12135540 G A 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.21;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-0.862;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.056;1000g2015aug_amr=0.4726;1000g2015aug_all=0.302915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:239,0,161 1 31764930 rs10733007 T C 547.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2115\x3bName\x3e"70916:AluSx1(SINE)";avsnp150=rs10733007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9236;1000g2015aug_amr=0.9957;1000g2015aug_all=0.979233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:576,51,0 1 31765968 rs1546375 C T 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.215;DP=35;ExcessHet=3.0103;FS=1.478;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=-0.359;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRNP40;Func=intronic;Gene=NM_004814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263694.8;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1546375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.056;1000g2015aug_amr=0.4654;1000g2015aug_all=0.301717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,9:35:99:203,0,764 1 31792141 rs4949384 A G 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=1.692;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZCCHC17;Func=intronic;Gene=NM_001282566,NM_001282567,NM_001282568,NM_001282569,NM_001282570,NM_001282571,NM_001282572,NM_001282573,NM_001282574,NM_016505;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422613.6,ENST00000616859.4,ENST00000618216.4,ENST00000615916.4,ENST00000616393.4,ENST00000627541.1,ENST00000373714.5,ENST00000344147.9,ENST00000546109.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.4654;1000g2015aug_all=0.301318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:294,0,210 1 31838995 rs905931 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFABP3;Func=intronic;Gene=NM_001320996,NM_004102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373713.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e281\x3bName\x3e"71119:MIR(SINE)";avsnp150=rs905931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9986;1000g2015aug_all=0.98762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 31840426 rs2271072 C G 402.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.598;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.458;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFABP3;Func=intronic;Gene=NM_001320996,NM_004102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373713.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5058;1000g2015aug_all=0.409944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:431,0,503 1 31842320 rs2228194 T C 1272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.186;DP=88;ExcessHet=3.0103;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.348;SOR=0.52;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFABP3;Func=exonic;Gene=NM_001320996,NM_004102;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FABP3:NM_001320996:exon2:c.A191G:p.K64R,FABP3:NM_004102:exon2:c.A158G:p.K53R;Gencode=Name\x3eENST00000373713.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0457;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0135783;esp6500siv2_all=0.0268;ExAC_ALL=0.0279;ExAC_AFR=0.0067;ExAC_AMR=0.0128;ExAC_EAS=0;ExAC_FIN=0.0414;ExAC_NFE=0.0402;ExAC_OTH=0.0275;ExAC_SAS=0.0116;SIFT_score=0.415;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.146;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.115;MutationAssessor_pred=M;FATHMM_score=0.8;FATHMM_pred=T;phyloP100way_vertebrate=1.143;phyloP20way_mammalian=0.144;SiPhy_29way_logOdds=10.690;gerp++gt2=3.87;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,48:88:99:1301,0,954 1 31870703 rs10914373 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320996,NM_001199038;GeneDetail=dist\x3e24568\x3bdist\x3e11709;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9986;1000g2015aug_all=0.986621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 32052145 rs45611233 G A 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.165;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.224;SOR=0.973;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTINAGL1;Func=intronic;Gene=NM_001204414,NM_001204415,NM_022164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457433.6,ENST00000537531.2,ENST00000271064.11;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45611233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0820687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:385,0,401 1 32084904 rs1056526 C T 830.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.628;DP=92;ExcessHet=3.0103;FS=7.094;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.752;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCRTR1;Func=exonic;Gene=NM_001525;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HCRTR1:NM_001525:exon3:c.C111T:p.R37R;Gencode=Name\x3eENST00000373705.1,ENST00000373706.9,ENST00000403528.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2371;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.4654;1000g2015aug_all=0.352835;esp6500siv2_all=0.4204;ExAC_ALL=0.4903;ExAC_AFR=0.1434;ExAC_AMR=0.4871;ExAC_EAS=0.2471;ExAC_FIN=0.5634;ExAC_NFE=0.5534;ExAC_OTH=0.5231;ExAC_SAS=0.5526;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,34:92:99:859,0,1601 1 32085485 rs11575883 G A 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.405;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.053;SOR=0.685;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCRTR1;Func=intronic;Gene=NM_001525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403528.6,ENST00000373706.9,ENST00000373705.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11575883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.5043;1000g2015aug_all=0.438498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,24:41:99:634,0,485 1 32086912 rs2280386 A C 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.723;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCRTR1;Func=intronic;Gene=NM_001525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403528.6,ENST00000373706.9,ENST00000373705.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.5245;1000g2015aug_all=0.478035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:251,0,116 1 32092525 rs2271933 A G 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.4;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.417;SOR=0.612;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCRTR1;Func=exonic;Gene=NM_001525;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HCRTR1:NM_001525:exon9:c.A1222G:p.I408V;Gencode=Name\x3eENST00000403528.6,ENST00000373706.9,ENST00000373705.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.5086;1000g2015aug_all=0.439696;esp6500siv2_all=0.5109;ExAC_ALL=0.5567;ExAC_AFR=0.3071;ExAC_AMR=0.5162;ExAC_EAS=0.2475;ExAC_FIN=0.6287;ExAC_NFE=0.6177;ExAC_OTH=0.6093;ExAC_SAS=0.6253;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.43;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_pred=T;phyloP100way_vertebrate=1.840;phyloP20way_mammalian=-0.243;SiPhy_29way_logOdds=8.216;gerp++gt2=3.78;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,22:52:99:558,0,790 1 32092735 rs2176807 T G 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCRTR1;Func=UTR3;Gene=NM_001525;GeneDetail=NM_001525:c.*154T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373706.9,ENST00000373705.1,ENST00000403528.6;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"71780:MIRc(SINE)";avsnp150=rs2176807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.4683;1000g2015aug_all=0.354034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 32093167 rs871634 G C 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.94;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373705.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.5288;1000g2015aug_all=0.475639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:112,0,30 1 32096265 rs1061770 A G 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.252;DP=19;ExcessHet=3.0103;FS=6.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.838;SOR=0.057;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEF1;Func=exonic;Gene=NM_012392;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PEF1:NM_012392:exon5:c.T804C:p.I268I;Gencode=Name\x3eENST00000373703.4,ENST00000373705.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.4741;1000g2015aug_all=0.356829;esp6500siv2_all=0.4260;ExAC_ALL=0.4955;ExAC_AFR=0.1451;ExAC_AMR=0.4911;ExAC_EAS=0.2567;ExAC_FIN=0.5675;ExAC_NFE=0.5596;ExAC_OTH=0.5310;ExAC_SAS=0.5549;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:250,0,361 1 32096746 rs10914458 T C 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.862;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.91;ReadPosRankSum=-1.68;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEF1;Func=intronic;Gene=NM_012392;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373705.1,ENST00000373703.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.6352;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.513;1000g2015aug_all=0.442093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,11:13:44:352,0,44 1 32096815 rs10798879 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEF1;Func=intronic;Gene=NM_012392;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373705.1,ENST00000373703.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.3722;1000g2015aug_amr=0.5317;1000g2015aug_all=0.485224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 32099041 rs4949454 G A 276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.424;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.205;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEF1;Func=intronic;Gene=NM_012392;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373703.4;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.4683;1000g2015aug_all=0.353634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:305,0,295 1 32110813 rs7542583 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEF1;Func=UTR5;Gene=NM_012392;GeneDetail=NM_012392:c.-348T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000585660.5,ENST00000581333.1,ENST00000623791.3,ENST00000591592.5,ENST00000610043.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.4813;1000g2015aug_all=0.392572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 32118160 rs1061392 C A 496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.295;DP=30;ExcessHet=3.0103;FS=1.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.675;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=UTR3;Gene=NM_001856;GeneDetail=NM_001856:c.*92G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000585660.5,ENST00000373672.7,ENST00000609033.5,ENST00000623791.3,ENST00000591592.5,ENST00000610043.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"71836:(AAC)n(Simple_repeat)";avsnp150=rs1061392;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.5202;1000g2015aug_all=0.457069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:525,0,371 1 32119431 rs3817398 T C 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.549;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.806;SOR=0.395;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610043.5,ENST00000591592.5,ENST00000623791.3,ENST00000609033.5,ENST00000373672.7,ENST00000585660.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3817398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.4899;1000g2015aug_all=0.404952;esp6500siv2_all=0.4804;ExAC_ALL=0.5107;ExAC_AFR=0.3121;ExAC_AMR=0.4879;ExAC_EAS=0.2076;ExAC_FIN=0.5574;ExAC_NFE=0.5654;ExAC_OTH=0.5449;ExAC_SAS=0.5721;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,19:37:99:446,0,505 1 32122164 rs7545321 A G 253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.164;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.026;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000623791.3,ENST00000609033.5,ENST00000610043.5,ENST00000591592.5,ENST00000585660.5,ENST00000445166.1,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5375;1000g2015aug_all=0.533946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:282,0,406 1 32123801 rs56074668 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000585660.5,ENST00000445166.1,ENST00000373672.7,ENST00000623791.3,ENST00000609033.5,ENST00000610043.5,ENST00000591592.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56074668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.4712;1000g2015aug_all=0.355232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 32126135 rs41263967 C T 944.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.003;DP=82;ExcessHet=3.0103;FS=0.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.685;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41263967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0749;1000g2015aug_all=0.053115;esp6500siv2_all=0.0987;ExAC_ALL=0.0946;ExAC_AFR=0.0213;ExAC_AMR=0.0524;ExAC_EAS=0.0003;ExAC_FIN=0.1190;ExAC_NFE=0.1288;ExAC_OTH=0.0984;ExAC_SAS=0.0680;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,45:82:99:973,0,891 1 32127911 rs2271927 C T 854.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.962;DP=41;ExcessHet=3.0103;FS=8.169;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.443;SOR=0.118;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5182;1000g2015aug_amr=0.4741;1000g2015aug_all=0.472444;esp6500siv2_all=0.4245;ExAC_ALL=0.4579;ExAC_AFR=0.5260;ExAC_AMR=0.5145;ExAC_EAS=0.6614;ExAC_FIN=0.4652;ExAC_NFE=0.4381;ExAC_OTH=0.4693;ExAC_SAS=0.3346;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,31:41:99:883,0,192 1 32127953 rs2271928 G A 769.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.97;DP=44;ExcessHet=3.0103;FS=4.635;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.793;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=exonic;Gene=NM_001856;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL16A1:NM_001856:exon58:c.C3663T:p.D1221D;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.4741;1000g2015aug_all=0.471845;esp6500siv2_all=0.4245;ExAC_ALL=0.4388;ExAC_AFR=0.5137;ExAC_AMR=0.4900;ExAC_EAS=0.6451;ExAC_FIN=0.4391;ExAC_NFE=0.4182;ExAC_OTH=0.4412;ExAC_SAS=0.3258;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,28:44:99:798,0,336 1 32128283 rs1568396 C G 261.9 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.793;DP=13;ExcessHet=3.0103;FS=18.195;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=21.83;ReadPosRankSum=2.148;SOR=4.797;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1568396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.5115;1000g2015aug_all=0.509784;esp6500siv2_all=0.5933;ExAC_ALL=0.4873;ExAC_AFR=0.6729;ExAC_AMR=0.4474;ExAC_EAS=0.7418;ExAC_FIN=0.5;ExAC_NFE=0.5627;ExAC_OTH=0.5119;ExAC_SAS=0.3964;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:2,10:12:15:290,15,0 1 32131163 rs1356803 C G 1098.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.477;DP=95;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.978;SOR=0.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1356803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.464;1000g2015aug_all=0.347444;esp6500siv2_all=0.4140;ExAC_ALL=0.4862;ExAC_AFR=0.1366;ExAC_AMR=0.4703;ExAC_EAS=0.2132;ExAC_FIN=0.5548;ExAC_NFE=0.5510;ExAC_OTH=0.5222;ExAC_SAS=0.5557;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,44:95:99:1127,0,1386 1 32133558 rs12129964 G A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.645;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0507;1000g2015aug_afr=.;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 1 32133737 rs2292988 C T 806.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.236;DP=51;ExcessHet=3.0103;FS=4.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.483;SOR=0.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.337;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.4251;1000g2015aug_all=0.317093;esp6500siv2_all=0.2792;ExAC_ALL=0.3432;ExAC_AFR=0.1196;ExAC_AMR=0.4386;ExAC_EAS=0.6111;ExAC_FIN=0.3317;ExAC_NFE=0.3486;ExAC_OTH=0.3188;ExAC_SAS=0.2524;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,31:51:99:835,0,546 1 32134491 rs2271929 C G 104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.559;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=0.934;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.6027;ExAC_ALL=0.6013;ExAC_AFR=0.5878;ExAC_AMR=0.5262;ExAC_EAS=0.3027;ExAC_FIN=0.6810;ExAC_NFE=0.6354;ExAC_OTH=0.6401;ExAC_SAS=0.6451;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:133,0,182 1 32136168 rs2292990 G C 2060.77 PASS AC=1;AF=0.5;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.22;SOR=1.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.621;1000g2015aug_all=0.44369;esp6500siv2_all=.;ExAC_ALL=0.5375;ExAC_AFR=0.2506;ExAC_AMR=0.5719;ExAC_EAS=0.2606;ExAC_FIN=0.5962;ExAC_NFE=0.5980;ExAC_OTH=0.4706;ExAC_SAS=0.6265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,38:66:99:2089,901,787 1 32136168 rs2292990 G T 2060.77 PASS AC=1;AF=0.5;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.22;SOR=1.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.335;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.3084;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=0.3397;ExAC_AFR=0.2833;ExAC_AMR=0.3323;ExAC_EAS=0.5827;ExAC_FIN=0.3462;ExAC_NFE=0.3641;ExAC_OTH=0.4216;ExAC_SAS=0.2669;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,28:66:99:2089,1188,1104 1 32136398 rs1474182 G A 410.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.027;DP=45;ExcessHet=3.0103;FS=2.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=0.984;SOR=0.328;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1474182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.6023;1000g2015aug_all=0.41893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,17:45:99:439,0,803 1 32140733 rs2292993 C T 1751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.225;DP=119;ExcessHet=3.0103;FS=0.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.949;SOR=0.808;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.6052;1000g2015aug_all=0.421126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,58:119:99:1780,0,1769 1 32145009 rs4949461 C T 3230.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.9813;1000g2015aug_all=0.963259;esp6500siv2_all=.;ExAC_ALL=0.9897;ExAC_AFR=0.8892;ExAC_AMR=0.9931;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9919;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:3259,290,0 1 32146425 rs11590964 C T 444.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.828;DP=41;ExcessHet=3.0103;FS=1.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.235;SOR=0.467;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.6297;1000g2015aug_all=0.49361;esp6500siv2_all=0.5537;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:473,0,542 1 32148571 rs10737358 A G 2043.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=1.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=exonic;Gene=NM_001856;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL16A1:NM_001856:exon37:c.T2502C:p.P834P;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999401;esp6500siv2_all=0.9993;ExAC_ALL=0.9998;ExAC_AFR=0.9971;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2072,180,0 1 32149982 rs10914466 A T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.319;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0583;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.2277;1000g2015aug_all=0.132788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,194 1 32155284 rs2297682 T C 1426.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.3473;1000g2015aug_all=0.478435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1455,129,0 1 32155911 rs6425780 G T 670.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.3241;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.3357;1000g2015aug_all=0.436502;esp6500siv2_all=0.5799;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:699,60,0 1 32155929 rs2297681 G A 727.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.268;1000g2015aug_all=0.304313;esp6500siv2_all=0.4151;ExAC_ALL=0.3775;ExAC_AFR=0.3409;ExAC_AMR=0.2104;ExAC_EAS=0.1635;ExAC_FIN=0.4363;ExAC_NFE=0.4680;ExAC_OTH=0.4048;ExAC_SAS=0.2386;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:756,69,0 1 32156722 rs10914467 G A 2276.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2824;1000g2015aug_all=0.290935;esp6500siv2_all=0.4374;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2305,204,0 1 32156869 rs10798884 A T 6254.77 PASS AC=2;AF=1;AN=2;DP=195;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999201;esp6500siv2_all=0.9991;ExAC_ALL=0.9997;ExAC_AFR=0.9960;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,194:194:99:6283,582,0 1 32157531 rs2297676 T C 1088.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.2896;1000g2015aug_all=0.303914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1117,90,0 1 32158374 rs3818788 T C 5865.77 PASS AC=2;AF=1;AN=2;DP=179;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.291;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=exonic;Gene=NM_001856;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL16A1:NM_001856:exon14:c.A1107G:p.P369P;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3581;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.7663;1000g2015aug_amr=0.6816;1000g2015aug_all=0.630391;esp6500siv2_all=0.6715;ExAC_ALL=0.6330;ExAC_AFR=0.7338;ExAC_AMR=0.6053;ExAC_EAS=0.3207;ExAC_FIN=0.6485;ExAC_NFE=0.6489;ExAC_OTH=0.65;ExAC_SAS=0.6839;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,179:179:99:5894,537,0 1 32159588 rs2275097 A C 2895.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.764;1000g2015aug_amr=0.6801;1000g2015aug_all=0.629792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2924,269,0 1 32160918 rs6656079 A G 2577.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=2.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3611;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.6686;1000g2015aug_all=0.58746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2606,219,0 1 32161942 rs10753258 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.621;1000g2015aug_amr=0.3256;1000g2015aug_all=0.411542;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 32163950 rs2297674 G C 1686.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.6383;1000g2015aug_all=0.559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1715,126,0 1 32164206 rs2228550 T G 1680.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=exonic;Gene=NM_001856;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL16A1:NM_001856:exon5:c.A268C:p.R90R;Gencode=Name\x3eENST00000373672.7,ENST00000373668.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.82;1000g2015aug_amr=0.6599;1000g2015aug_all=0.625799;esp6500siv2_all=0.6955;ExAC_ALL=0.6289;ExAC_AFR=0.7889;ExAC_AMR=0.5856;ExAC_EAS=0.3230;ExAC_FIN=0.6439;ExAC_NFE=0.6548;ExAC_OTH=0.6371;ExAC_SAS=0.6128;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1709,153,0 1 32165495 rs2228552 G T 3077.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=1.203;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=exonic;Gene=NM_001856;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=COL16A1:NM_001856:exon4:c.C185A:p.T62K;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2708;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.261;1000g2015aug_amr=0.4553;1000g2015aug_all=0.427316;esp6500siv2_all=0.5408;ExAC_ALL=0.5629;ExAC_AFR=0.3047;ExAC_AMR=0.4545;ExAC_EAS=0.2643;ExAC_FIN=0.6400;ExAC_NFE=0.6430;ExAC_OTH=0.5933;ExAC_SAS=0.5917;SIFT_score=0.032;SIFT_pred=D;Polyphen2_HDIV_score=0.969;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.473;Polyphen2_HVAR_pred=P;LRT_score=0.689;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.42;MutationAssessor_pred=M;FATHMM_score=1.85;FATHMM_pred=T;phyloP100way_vertebrate=-0.481;phyloP20way_mammalian=-1.931;SiPhy_29way_logOdds=8.052;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3106,282,0 1 32167526 rs1815465 G C 1421.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL16A1;Func=intronic;Gene=NM_001856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373668.7,ENST00000373672.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1815465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1450,114,0 1 32193647 rs1127100 T C 1202.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRB2;Func=exonic;Gene=NM_001294335,NM_001294336;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADGRB2:NM_001294336:exon31:c.A4449G:p.A1483A,ADGRB2:NM_001294335:exon32:c.A4548G:p.A1516A;Gencode=Name\x3eENST00000398542.5,ENST00000373655.6,ENST00000527361.5,ENST00000398547.5,ENST00000398538.5,ENST00000373658.7,ENST00000398556.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1127100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.5159;1000g2015aug_all=0.604034;esp6500siv2_all=0.6960;ExAC_ALL=0.6758;ExAC_AFR=0.8094;ExAC_AMR=0.6000;ExAC_EAS=0.4432;ExAC_FIN=0.6922;ExAC_NFE=0.6978;ExAC_OTH=0.6389;ExAC_SAS=0.6393;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1231,108,0 1 32228569 . G C 241.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=35.42;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRB2;Func=intronic;Gene=NM_001294335,NM_001294336;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000398542.5,ENST00000373658.7,ENST00000373655.6,ENST00000398547.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 1 32256086 rs13426 T C 647.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPOCD1;Func=UTR3;Gene=NM_001281987,NM_001281988,NM_144569;GeneDetail=NM_001281987:c.*118A>G\x3bNM_001281988:c.*118A>G\x3bNM_144569:c.*118A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257100.7,ENST00000527035.1,ENST00000360482.6,ENST00000533231.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.7406;1000g2015aug_all=0.714657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:676,51,0 1 32263665 rs34686496 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPOCD1;Func=intronic;Gene=NM_001281987,NM_001281988,NM_144569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257100.7,ENST00000360482.6,ENST00000533231.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"72090:(TCTC)n(Simple_repeat)";avsnp150=rs34686496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.046;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.5318;1000g2015aug_amr=0.1254;1000g2015aug_all=0.211062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 32266026 rs552124 A G 2398.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPOCD1;Func=intronic;Gene=NM_001281987,NM_001281988,NM_144569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257100.7,ENST00000360482.6,ENST00000533231.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e302\x3bName\x3e"72094:MIRb(SINE)";avsnp150=rs552124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.7406;1000g2015aug_all=0.736422;esp6500siv2_all=0.7610;ExAC_ALL=0.7776;ExAC_AFR=0.8256;ExAC_AMR=0.7198;ExAC_EAS=0.6208;ExAC_FIN=0.7342;ExAC_NFE=0.7672;ExAC_OTH=0.7591;ExAC_SAS=0.8420;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2427,216,0 1 32279629 rs6669563 G A 374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.186;DP=24;ExcessHet=3.0103;FS=1.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.725;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPOCD1;Func=exonic;Gene=NM_001281987,NM_144569;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPOCD1:NM_001281987:exon2:c.C1306T:p.R436W,SPOCD1:NM_144569:exon2:c.C1306T:p.R436W;Gencode=Name\x3eENST00000360482.6,ENST00000257100.7,ENST00000533231.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.4957;1000g2015aug_all=0.346246;esp6500siv2_all=0.3656;ExAC_ALL=0.4068;ExAC_AFR=0.2171;ExAC_AMR=0.4969;ExAC_EAS=0.4407;ExAC_FIN=0.4703;ExAC_NFE=0.4475;ExAC_OTH=0.3795;ExAC_SAS=0.2534;SIFT_score=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.825;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.84;FATHMM_pred=T;phyloP100way_vertebrate=0.055;phyloP20way_mammalian=0.040;SiPhy_29way_logOdds=3.809;gerp++gt2=.;CADD=2.740;CADD_Phred=21.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:403,0,285 1 32280610 rs6664445 T C 2835.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-1.012;DP=90;ExcessHet=3.0103;FS=3.415;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.51;ReadPosRankSum=0.289;SOR=0.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPOCD1;Func=exonic;Gene=NM_001281987,NM_144569;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A;Gencode=Name\x3eENST00000533231.5,ENST00000360482.6,ENST00000257100.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.673;1000g2015aug_afr=0.6399;1000g2015aug_amr=0.6671;1000g2015aug_all=0.6875;esp6500siv2_all=0.6718;ExAC_ALL=0.6822;ExAC_AFR=0.6373;ExAC_AMR=0.6319;ExAC_EAS=0.7016;ExAC_FIN=0.6655;ExAC_NFE=0.6900;ExAC_OTH=0.6574;ExAC_SAS=0.7118;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=2.2;FATHMM_pred=T;phyloP100way_vertebrate=0.370;phyloP20way_mammalian=-0.019;SiPhy_29way_logOdds=4.638;gerp++gt2=2.32;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,89:90:99:2864,228,0 1 32378540 rs2377924 G T 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.633;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.019;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTP4A2;Func=intronic;Gene=NM_001195100,NM_001195101,NM_080391;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602725.5,ENST00000602889.1,ENST00000344035.10,ENST00000457805.6,ENST00000470404.5;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2377924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.025;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0259585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:187,0,179 1 32422220 rs2253045 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080391,NM_006559;GeneDetail=dist\x3e18232\x3bdist\x3e57075;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 32538782 rs2296450 G A 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.151;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.881;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM39B;Func=intronic;Gene=NM_001319677,NM_001319678,NM_001319679,NM_018056;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336294.9,ENST00000366152.3;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0866613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:184,0,245 1 32627383 rs7521471 C G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKPNA6;Func=intronic;Gene=NM_012316;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373625.7;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.3131;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.5101;1000g2015aug_all=0.634585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 32689857 rs589034 A G 3955.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.86;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF3I;Func=intronic;Gene=NM_003757;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373586.1;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs589034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.5014;1000g2015aug_all=0.608227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3984,329,0 1 32755993 rs56354209 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005356,NM_004964;GeneDetail=dist\x3e4225\x3bdist\x3e1715;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2081\x3bName\x3e"73531:AluJb(SINE)";avsnp150=rs56354209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.121;1000g2015aug_all=0.169728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 32756439 rs1741981 T C 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005356,NM_004964;GeneDetail=dist\x3e4671\x3bdist\x3e1269;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e367\x3bName\x3e"73535:MER20(DNA)";avsnp150=rs1741981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.335;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.2608;1000g2015aug_all=0.48103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 32860161 rs547329 T C 1806.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.59;SOR=2.348;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001143888,NM_001143889,NM_001143890,NM_001300958,NM_018045;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs547329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8918;1000g2015aug_amr=0.9914;1000g2015aug_all=0.970248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1835,153,0 1 32892425 rs1856348 G C 49.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018045,NM_001145720;GeneDetail=dist\x3e32363\x3bdist\x3e38233;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1856348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8903;1000g2015aug_amr=0.9914;1000g2015aug_all=0.969848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 1 32914740 . C T 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=-0.524;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018045,NM_001145720;GeneDetail=dist\x3e54678\x3bdist\x3e15918;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6250\x3bName\x3e"73954:LTR13(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 32925243 rs2453243 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018045,NM_001145720;GeneDetail=dist\x3e65181\x3bdist\x3e5415;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2614\x3bName\x3e"73997:THE1B(LTR)";avsnp150=rs2453243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.9899;1000g2015aug_all=0.970647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33117071 rs583114 T G 1031.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=1.308;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458695.6,ENST00000414241.7,ENST00000373485.5,ENST00000373493.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs583114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.9841;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1060,105,0 1 33117231 rs664567 G A 413.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373485.5,ENST00000373493.9,ENST00000458695.6,ENST00000414241.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs664567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.9841;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:442,33,0 1 33127730 rs1085416 T C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373485.5,ENST00000373493.9,ENST00000458695.6,ENST00000414241.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1983\x3bName\x3e"74659:AluSc(SINE)";avsnp150=rs1085416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9841;1000g2015aug_all=0.968251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 33133968 rs2762904 T C 446.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=exonic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RBBP4:NM_001135255:exon4:c.T450C:p.V150V,RBBP4:NM_001135256:exon4:c.T348C:p.V116V,RBBP4:NM_005610:exon4:c.T453C:p.V151V;Gencode=Name\x3eENST00000414241.7,ENST00000458695.6,ENST00000373493.9,ENST00000373485.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2762904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9841;1000g2015aug_all=0.967851;esp6500siv2_all=0.9699;ExAC_ALL=0.9913;ExAC_AFR=0.9064;ExAC_AMR=0.9959;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:475,39,0 1 33134774 rs359955 A C 286.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.07;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414241.7,ENST00000458695.6,ENST00000373493.9,ENST00000373485.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs359955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.7669;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.6383;1000g2015aug_all=0.594249;esp6500siv2_all=0.6061;ExAC_ALL=0.7301;ExAC_AFR=0.2714;ExAC_AMR=0.7233;ExAC_EAS=0.7338;ExAC_FIN=0.8470;ExAC_NFE=0.7884;ExAC_OTH=0.7159;ExAC_SAS=0.7368;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:32:315,32,0 1 33134989 rs359956 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458695.6,ENST00000414241.7,ENST00000373485.5,ENST00000373493.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs359956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.4902;1000g2015aug_amr=0.7435;1000g2015aug_all=0.78095;esp6500siv2_all=0.8309;ExAC_ALL=0.9019;ExAC_AFR=0.5471;ExAC_AMR=0.8383;ExAC_EAS=0.8362;ExAC_FIN=0.9787;ExAC_NFE=0.9610;ExAC_OTH=0.9084;ExAC_SAS=0.9219;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 33138516 rs607202 A C 707.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373493.9,ENST00000373485.5,ENST00000414241.7,ENST00000458695.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs607202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9841;1000g2015aug_all=0.968051;esp6500siv2_all=0.9702;ExAC_ALL=0.9915;ExAC_AFR=0.9070;ExAC_AMR=0.9959;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:736,72,0 1 33138605 rs1320511 T C 438.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414241.7,ENST00000458695.6,ENST00000373493.9,ENST00000373485.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1320511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.7781;1000g2015aug_all=0.830671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:467,42,0 1 33140132 rs6681759 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4;Func=intronic;Gene=NM_001135255,NM_001135256,NM_005610;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458695.6,ENST00000414241.7,ENST00000373485.5,ENST00000373493.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9841;1000g2015aug_all=0.967652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 33147143 rs360510 C T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP4,SYNC;Func=UTR3;Gene=NM_001135255,NM_001135256,NM_001161708,NM_005610,NM_030786;GeneDetail=NM_001135255:c.*1837C>T\x3bNM_001135256:c.*1837C>T\x3bNM_001161708:c.*246G>A\x3bNM_005610:c.*1837C>T\x3bNM_030786:c.*308G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373484.4,ENST00000409190.7,ENST00000373493.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360510;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9841;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 33160878 rs360042 C T 3357.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYNC;Func=exonic;Gene=NM_001161708,NM_030786;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYNC:NM_001161708:exon2:c.G821A:p.R274Q,SYNC:NM_030786:exon2:c.G821A:p.R274Q;Gencode=Name\x3eENST00000373484.4,ENST00000409190.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.7738;1000g2015aug_all=0.86262;esp6500siv2_all=0.9120;ExAC_ALL=0.9260;ExAC_AFR=0.8092;ExAC_AMR=0.8253;ExAC_EAS=0.8480;ExAC_FIN=0.9787;ExAC_NFE=0.9605;ExAC_OTH=0.9;ExAC_SAS=0.9202;SIFT_score=0.215;SIFT_pred=T;Polyphen2_HDIV_score=0.669;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.962;MutationTaster_pred=P;MutationAssessor_score=-0.255;MutationAssessor_pred=N;FATHMM_score=-2.83;FATHMM_pred=D;phyloP100way_vertebrate=0.243;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=8.651;gerp++gt2=.;CADD=2.824;CADD_Phred=21.5;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3386,294,0 1 33161212 rs360041 T C 2829.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYNC;Func=exonic;Gene=NM_001161708,NM_030786;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYNC:NM_001161708:exon2:c.A487G:p.M163V,SYNC:NM_030786:exon2:c.A487G:p.M163V;Gencode=Name\x3eENST00000373484.4,ENST00000409190.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.7738;1000g2015aug_all=0.86262;esp6500siv2_all=0.9115;ExAC_ALL=0.9251;ExAC_AFR=0.8010;ExAC_AMR=0.8053;ExAC_EAS=0.8558;ExAC_FIN=0.9793;ExAC_NFE=0.9609;ExAC_OTH=0.8968;ExAC_SAS=0.9196;SIFT_score=0.476;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=2.01;FATHMM_pred=T;phyloP100way_vertebrate=-0.181;phyloP20way_mammalian=-0.787;SiPhy_29way_logOdds=1.507;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2858,252,0 1 33161806 rs360040 C T 643.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYNC;Func=intronic;Gene=NM_001161708,NM_030786;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373484.4,ENST00000409190.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.7738;1000g2015aug_all=0.86242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:672,54,0 1 33170413 rs9425961 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161708,NM_020888;GeneDetail=dist\x3e2052\x3bdist\x3e37099;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e346\x3bName\x3e"74775:L2a(LINE)";avsnp150=rs9425961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.7658;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.6354;1000g2015aug_all=0.592851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 33175285 rs786458 G C 71.03 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161708,NM_020888;GeneDetail=dist\x3e6924\x3bdist\x3e32227;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs786458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.7305;1000g2015aug_all=0.75;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 33198964 rs785414 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001161708,NM_020888;GeneDetail=dist\x3e30603\x3bdist\x3e8548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1620\x3bName\x3e"74867:AluJr(SINE)";avsnp150=rs785414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9138;1000g2015aug_amr=0.987;1000g2015aug_all=0.975439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33225856 rs360494 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401073.6,ENST00000373481.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9942;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33232375 rs72654014 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373481.7,ENST00000373480.1,ENST00000294521.7,ENST00000401073.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72654014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0325479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 33233223 rs4951771 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373480.1,ENST00000373481.7,ENST00000401073.6,ENST00000294521.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.556;1000g2015aug_amr=0.6542;1000g2015aug_all=0.66853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 33233237 rs360524 G A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.17;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373481.7,ENST00000373480.1,ENST00000294521.7,ENST00000401073.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.6527;1000g2015aug_all=0.667332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 33233323 rs360523 A G 905.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373481.7,ENST00000373480.1,ENST00000294521.7,ENST00000401073.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9885;1000g2015aug_all=0.982628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:934,78,0 1 33234136 rs360522 T C 1155.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=4.548;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373480.1,ENST00000373481.7,ENST00000401073.6,ENST00000294521.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1927\x3bName\x3e"74957:AluSx1(SINE)";avsnp150=rs360522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9928;1000g2015aug_all=0.978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1184,90,0 1 33234153 rs3737993 G A 1420.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.94;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=intronic;Gene=NM_001198972,NM_001198973,NM_020888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401073.6,ENST00000294521.7,ENST00000373480.1,ENST00000373481.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1927\x3bName\x3e"74957:AluSx1(SINE)";avsnp150=rs3737993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.5757;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.5937;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1449,111,0 1 33235626 rs3737995 G A 2484.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=exonic;Gene=NM_001198972,NM_020888;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1522:NM_001198972:exon6:c.G669A:p.A223A,KIAA1522:NM_020888:exon6:c.G846A:p.A282A;Gencode=Name\x3eENST00000401073.6,ENST00000294521.7,ENST00000373480.1,ENST00000373481.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"74961:(GGAGGC)n(Simple_repeat)";avsnp150=rs3737995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.438;1000g2015aug_all=0.307907;esp6500siv2_all=0.2714;ExAC_ALL=0.3680;ExAC_AFR=0.0960;ExAC_AMR=0.4557;ExAC_EAS=0.4686;ExAC_FIN=0.3562;ExAC_NFE=0.3734;ExAC_OTH=0.3414;ExAC_SAS=0.3879;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2513,218,0 1 33236483 rs138055320 G A 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.685;DP=40;ExcessHet=3.0103;FS=1.458;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.042;SOR=0.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1522;Func=exonic;Gene=NM_001198972,NM_020888;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1522:NM_001198972:exon6:c.G1526A:p.R509Q,KIAA1522:NM_020888:exon6:c.G1703A:p.R568Q;Gencode=Name\x3eENST00000294521.7,ENST00000401073.6,ENST00000373481.7,ENST00000373480.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs138055320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00239617;esp6500siv2_all=0.0048;ExAC_ALL=0.0045;ExAC_AFR=0.0012;ExAC_AMR=0.0033;ExAC_EAS=0;ExAC_FIN=0.0018;ExAC_NFE=0.0070;ExAC_OTH=0.0093;ExAC_SAS=0.0007;SIFT_score=0.171;SIFT_pred=T;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.029;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=2.74;FATHMM_pred=T;phyloP100way_vertebrate=0.938;phyloP20way_mammalian=-0.403;SiPhy_29way_logOdds=6.163;gerp++gt2=2.21;CADD=2.125;CADD_Phred=17.02;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,25:40:99:690,0,438 1 33276424 rs4951787 G A 2060.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYARS;Func=intronic;Gene=NM_003680;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616261.1,ENST00000373477.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2089,182,0 1 33293748 rs10753266 T C 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100PBP;Func=intronic;Gene=NM_001256121,NM_022753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373475.9,ENST00000373476.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 33299816 rs4951773 A T 687.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.72;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100PBP;Func=intronic;Gene=NM_001256121,NM_022753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373476.5,ENST00000373475.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:716,54,0 1 33302702 rs11590675 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100PBP;Func=intronic;Gene=NM_001256121,NM_022753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373476.5,ENST00000373475.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e514\x3bName\x3e"75137:FRAM(SINE)";avsnp150=rs11590675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.987;1000g2015aug_all=0.965855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33318561 rs702836 T C 586.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100PBP;Func=intronic;Gene=NM_001256121,NM_022753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373475.9,ENST00000373476.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs702836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:615,54,0 1 33318634 rs785274 G A 1354.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100PBP;Func=intronic;Gene=NM_001256121,NM_022753;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373475.9,ENST00000373476.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs785274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=0.9855;ExAC_ALL=0.9956;ExAC_AFR=0.9547;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9956;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1383,132,0 1 33330432 rs1284368 A G 1723.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC5;Func=intronic;Gene=NM_001171940,NM_001171941,NM_153756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373471.7,ENST00000496770.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1284368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984026;esp6500siv2_all=0.9855;ExAC_ALL=0.9956;ExAC_AFR=0.9546;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9955;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1752,171,0 1 33358601 rs12061116 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCA;Func=intronic;Gene=NM_002143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373467.3;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12061116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7103;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.5418;1000g2015aug_all=0.640974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 33358865 rs946026 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCA;Func=intronic;Gene=NM_002143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373467.3;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33364095 rs942242 C T 292.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM54;Func=intronic;Gene=NM_001329722,NM_001329723,NM_001329724,NM_001329725,NM_033504;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373463.7,ENST00000329151.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e304\x3bName\x3e"75299:MIRc(SINE)";avsnp150=rs942242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.5951;1000g2015aug_all=0.740815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:321,24,0 1 33412296 rs376812829 T C 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.737;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=0.754;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF19B;Func=intronic;Gene=NM_001127361,NM_001300826,NM_153341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235150.4,ENST00000356990.9,ENST00000373456.11;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs376812829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:318,0,237 1 33430102 rs113840389 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF19B;Func=exonic;Gene=NM_001127361,NM_001300826,NM_153341;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNF19B:NM_001127361:exon1:c.A185C:p.Q62P,RNF19B:NM_001300826:exon1:c.A185C:p.Q62P,RNF19B:NM_153341:exon1:c.A185C:p.Q62P;Gencode=Name\x3eENST00000373456.11,ENST00000356990.9,ENST00000235150.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e44\x3bName\x3e"75472:(CCGCGG)n(Simple_repeat)";avsnp150=rs113840389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.726;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.46;FATHMM_pred=T;phyloP100way_vertebrate=0.205;phyloP20way_mammalian=-0.311;SiPhy_29way_logOdds=6.948;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33448347 rs4376697 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001300826,NM_001319139;GeneDetail=dist\x3e17933\x3bdist\x3e25194;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e329\x3bName\x3e"75527:L2c(LINE)";avsnp150=rs4376697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.9284;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9784;1000g2015aug_all=0.967452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33476292 rs74066439 A G 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.24;MQRankSum=-2.655;QD=11.09;ReadPosRankSum=-2.26;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK2;Func=UTR3;Gene=NM_001199199,NM_001319139,NM_001319141,NM_001319142,NM_013411;GeneDetail=NM_001199199:c.*138T>C\x3bNM_001319139:c.*138T>C\x3bNM_001319141:c.*187T>C\x3bNM_001319142:c.*138T>C\x3bNM_013411:c.*138T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629371.2,ENST00000373449.6,ENST00000548033.5,ENST00000427524.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74066439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4912;ExAC_AFR=0.4874;ExAC_AMR=0.4922;ExAC_EAS=0.4931;ExAC_FIN=0.4880;ExAC_NFE=0.4909;ExAC_OTH=0.4950;ExAC_SAS=0.4939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:128,0,170 1 33476353 rs66599471 C T 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.486;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.64;MQRankSum=-4.261;QD=3.84;ReadPosRankSum=2.649;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK2;Func=UTR3;Gene=NM_001199199,NM_001319139,NM_001319141,NM_001319142,NM_013411;GeneDetail=NM_001199199:c.*77G>A\x3bNM_001319139:c.*77G>A\x3bNM_001319141:c.*126G>A\x3bNM_001319142:c.*77G>A\x3bNM_013411:c.*77G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427524.1,ENST00000548033.5,ENST00000373449.6,ENST00000629371.2;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66599471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3611;ExAC_AFR=0.3623;ExAC_AMR=0.3301;ExAC_EAS=0.3539;ExAC_FIN=0.3762;ExAC_NFE=0.3576;ExAC_OTH=0.3624;ExAC_SAS=0.3918;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,4:20:99:105,0,500 1 33476385 rs76881767 C G 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.728;DP=26;ExcessHet=3.0103;FS=2.556;MLEAC=1;MLEAF=0.5;MQ=57.43;MQRankSum=-4.924;QD=2.72;ReadPosRankSum=1.174;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK2;Func=UTR3;Gene=NM_001199199,NM_001319139,NM_001319141,NM_001319142,NM_013411;GeneDetail=NM_001199199:c.*45G>C\x3bNM_001319139:c.*45G>C\x3bNM_001319141:c.*94G>C\x3bNM_001319142:c.*45G>C\x3bNM_013411:c.*45G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000548033.5,ENST00000427524.1,ENST00000467905.5,ENST00000629371.2,ENST00000373449.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76881767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2172;ExAC_AFR=0.2524;ExAC_AMR=0.2010;ExAC_EAS=0.2365;ExAC_FIN=0.2620;ExAC_NFE=0.2256;ExAC_OTH=0.2294;ExAC_SAS=0.1489;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,4:26:99:99,0,954 1 33476387 rs201842558 C T 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.109;DP=27;ExcessHet=3.0103;FS=2.508;MLEAC=1;MLEAF=0.5;MQ=57.53;MQRankSum=-5.025;QD=2.51;ReadPosRankSum=1.127;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK2;Func=UTR3;Gene=NM_001199199,NM_001319139,NM_001319141,NM_001319142,NM_013411;GeneDetail=NM_001199199:c.*43G>A\x3bNM_001319139:c.*43G>A\x3bNM_001319141:c.*92G>A\x3bNM_001319142:c.*43G>A\x3bNM_013411:c.*43G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467905.5,ENST00000629371.2,ENST00000373449.6,ENST00000427524.1,ENST00000548033.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs201842558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2102;ExAC_AFR=0.2457;ExAC_AMR=0.1922;ExAC_EAS=0.2258;ExAC_FIN=0.2494;ExAC_NFE=0.2186;ExAC_OTH=0.2224;ExAC_SAS=0.1455;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,4:27:96:96,0,996 1 33497070 rs1012884 G A 2106.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK2;Func=intronic;Gene=NM_001199199,NM_001319139,NM_001319140,NM_001319141,NM_001319142,NM_001319143,NM_001625,NM_013411;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000487289.1,ENST00000373449.6,ENST00000467905.5,ENST00000629371.2,ENST00000354858.10,ENST00000480134.5,ENST00000427524.1,ENST00000548033.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e675\x3bName\x3e"75662:MIRb(SINE)";avsnp150=rs1012884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.987;1000g2015aug_all=0.989816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2135,186,0 1 33560338 rs804428 A G 2782.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=2.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAZIN2;Func=intronic;Gene=NM_001293562,NM_001301823,NM_001301824,NM_001301825,NM_001301826,NM_001350398,NM_001350399,NM_001350400,NM_001350401,NM_001350402,NM_052998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373440.5,ENST00000373443.7,ENST00000373441.1,ENST00000294517.10;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs804428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9827;1000g2015aug_all=0.988618;esp6500siv2_all=0.9604;ExAC_ALL=0.9701;ExAC_AFR=0.9913;ExAC_AMR=0.9868;ExAC_EAS=0.9999;ExAC_FIN=0.9744;ExAC_NFE=0.9532;ExAC_OTH=0.9691;ExAC_SAS=0.9958;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2811,240,0 1 33619860 rs607997 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM62;Func=intronic;Gene=NM_001330483,NM_018207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000291416.9,ENST00000543586.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs607997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.9971;1000g2015aug_all=0.990216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33641932 rs604941 A G 2429.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=1.103;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM62;Func=intronic;Gene=NM_001330483,NM_018207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543586.1,ENST00000291416.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs604941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9885;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2458,219,0 1 33642152 rs643402 C T 1645.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.71;SOR=3.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM62;Func=intronic;Gene=NM_018207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000291416.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs643402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.708;1000g2015aug_amr=0.7939;1000g2015aug_all=0.749201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1674,135,0 1 33646497 rs634307 T C 133.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM62;Func=intronic;Gene=NM_018207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000291416.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs634307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.8994;1000g2015aug_amr=0.8127;1000g2015aug_all=0.802316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:161,12,0 1 33646950 rs622407 A G 1611.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=1.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM62;Func=exonic;Gene=NM_018207;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TRIM62:NM_018207:exon1:c.T84C:p.H28H;Gencode=Name\x3eENST00000291416.9;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs622407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.7954;1000g2015aug_all=0.749601;esp6500siv2_all=0.7804;ExAC_ALL=0.7747;ExAC_AFR=0.7565;ExAC_AMR=0.8332;ExAC_EAS=0.7854;ExAC_FIN=0.7748;ExAC_NFE=0.7838;ExAC_OTH=0.7616;ExAC_SAS=0.7155;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1640,135,0 1 33735988 rs72889809 A G 421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.048;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=-0.635;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF362;Func=intronic;Gene=NM_152493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539719.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72889809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.0245;1000g2015aug_eur=.;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0644968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:450,0,195 1 33741615 rs7514338 T A 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.357;DP=36;ExcessHet=3.0103;FS=1.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.542;SOR=1.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF362;Func=intronic;Gene=NM_152493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539719.5,ENST00000373428.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.273;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.1455;1000g2015aug_all=0.228235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:483,0,491 1 33742228 rs4475712 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF362;Func=intronic;Gene=NM_152493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373428.5,ENST00000539719.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4475712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=1;ExAC_OTH=.;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 33746163 rs10914676 T C 377.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF362;Func=intronic;Gene=NM_152493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373428.5,ENST00000539719.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:406,30,0 1 33760743 rs4641276 T C 1887.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF362;Func=intronic;Gene=NM_152493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373428.5,ENST00000539719.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4641276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.7584;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.8357;1000g2015aug_all=0.817292;esp6500siv2_all=0.8169;ExAC_ALL=0.7866;ExAC_AFR=0.9452;ExAC_AMR=0.8294;ExAC_EAS=0.7727;ExAC_FIN=0.8237;ExAC_NFE=0.7678;ExAC_OTH=0.8106;ExAC_SAS=0.7240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1916,171,0 1 33777524 rs6679416 T C 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.754;DP=22;ExcessHet=3.0103;FS=2.671;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.96;SOR=2.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eA3GALT2;Func=intronic;Gene=NM_001080438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442999.3,ENST00000630229.1,ENST00000457957.2;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.4914;1000g2015aug_all=0.72504;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,6:22:99:185,0,485 1 33778226 rs12563102 G A 407.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.456;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.302;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eA3GALT2;Func=intronic;Gene=NM_001080438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630229.1,ENST00000442999.3,ENST00000457957.2;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12563102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.2205;1000g2015aug_all=0.392372;esp6500siv2_all=0.4068;ExAC_ALL=0.3424;ExAC_AFR=0.6640;ExAC_AMR=0.2230;ExAC_EAS=0.2955;ExAC_FIN=0.3350;ExAC_NFE=0.3138;ExAC_OTH=0.3595;ExAC_SAS=0.3893;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,16:43:99:436,0,794 1 33778591 rs6664593 T C 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.471;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.738;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eA3GALT2;Func=intronic;Gene=NM_001080438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457957.2,ENST00000442999.3,ENST00000630229.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e317\x3bName\x3e"76414:L1ME4b(LINE)";avsnp150=rs6664593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.4914;1000g2015aug_all=0.721845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,230 1 33794853 rs7551448 A G 345.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_004427,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373422.7,ENST00000431992.5,ENST00000257118.5,ENST00000373418.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:374,27,0 1 33795531 rs4653043 G C 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.139;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_004427,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373422.7,ENST00000257118.5,ENST00000373418.7,ENST00000431992.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.219;1000g2015aug_all=0.391573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,253 1 33795590 rs10914685 A T 310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.285;DP=34;ExcessHet=3.0103;FS=1.678;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=0.284;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_004427,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257118.5,ENST00000373418.7,ENST00000431992.5,ENST00000373422.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.5101;1000g2015aug_all=0.275559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,13:34:99:339,0,626 1 33796081 rs4653044 A C 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.341;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_004427,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431992.5,ENST00000373418.7,ENST00000257118.5,ENST00000373422.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e575\x3bName\x3e"76450:MIRb(SINE)";avsnp150=rs4653044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.2781;1000g2015aug_all=0.476038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 33819830 rs4653081 A C 83.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929464,PHC2;Func=ncRNA_intronic;Gene=NR_125978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432703.1,ENST00000431992.5,ENST00000257118.5,ENST00000373422.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.888;1000g2015aug_amr=0.4841;1000g2015aug_all=0.728834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:111,9,0 1 33832457 rs4653106 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257118.5,ENST00000431992.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 33832865 rs6425816 A G 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.363;DP=58;ExcessHet=3.0103;FS=10.573;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.049;SOR=0.134;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=exonic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PHC2:NM_001330488:exon5:c.T741C:p.P247P,PHC2:NM_198040:exon6:c.T828C:p.P276P;Gencode=Name\x3eENST00000431992.5,ENST00000257118.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.4856;1000g2015aug_all=0.728235;esp6500siv2_all=0.7298;ExAC_ALL=0.6850;ExAC_AFR=0.8703;ExAC_AMR=0.4839;ExAC_EAS=0.7781;ExAC_FIN=0.6663;ExAC_NFE=0.6666;ExAC_OTH=0.6652;ExAC_SAS=0.7437;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,20:58:99:490,0,1112 1 33834416 rs12144672 T C 505.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.297;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.997;SOR=0.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431992.5,ENST00000257118.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.1778;1000g2015aug_amr=0.121;1000g2015aug_all=0.153554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,16:45:99:534,0,908 1 33834455 rs4653111 A G 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=25;ExcessHet=3.0103;FS=2.648;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.666;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257118.5,ENST00000431992.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.885;1000g2015aug_amr=0.4841;1000g2015aug_all=0.727037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:274,0,470 1 33836796 rs7545416 C G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.654;DP=35;ExcessHet=3.0103;FS=1.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.64;SOR=1.154;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431992.5,ENST00000257118.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.888;1000g2015aug_amr=0.4841;1000g2015aug_all=0.728834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:445,0,690 1 33840629 rs12124646 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257118.5,ENST00000431992.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12124646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.121;1000g2015aug_all=0.169329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 33840795 rs10914693 T G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.807;DP=12;ExcessHet=3.0103;FS=10.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.864;SOR=0.464;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHC2;Func=intronic;Gene=NM_001330488,NM_198040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000257118.5,ENST00000431992.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.111;1000g2015aug_all=0.155351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:188,0,173 1 33945192 rs16835507 T A 2852.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.936;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=exonic;Gene=NM_145238;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZSCAN20:NM_145238:exon2:c.T303A:p.T101T;Gencode=Name\x3eENST00000373413.2,ENST00000361328.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16835507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0089;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.062;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0686901;esp6500siv2_all=0.1296;ExAC_ALL=0.1136;ExAC_AFR=0.0854;ExAC_AMR=0.0542;ExAC_EAS=0.0056;ExAC_FIN=0.1247;ExAC_NFE=0.1501;ExAC_OTH=0.0966;ExAC_SAS=0.0769;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2881,231,0 1 33951134 rs57656957 T A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=intronic;Gene=NM_145238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373413.2,ENST00000361328.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1751\x3bName\x3e"76767:AluJb(SINE)";avsnp150=rs57656957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.8109;1000g2015aug_amr=0.6225;1000g2015aug_all=0.740415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 33954352 rs3795418 A G 558.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=intronic;Gene=NM_145238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373413.2,ENST00000361328.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6254;1000g2015aug_all=0.753794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:587,45,0 1 33957152 rs4403594 T G 5844.77 PASS AC=2;AF=1;AN=2;DP=182;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=exonic;Gene=NM_145238;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D;Gencode=Name\x3eENST00000361328.7,ENST00000373413.2;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4403594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9977;ExAC_ALL=0.9944;ExAC_AFR=0.9995;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=0.9763;ExAC_NFE=0.9925;ExAC_OTH=0.9922;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.915;MutationAssessor_pred=N;FATHMM_score=3.45;FATHMM_pred=T;phyloP100way_vertebrate=2.362;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=14.205;gerp++gt2=5.61;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,182:182:99:5873,546,0 1 33960062 rs9943259 A G 2983.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=exonic;Gene=NM_145238;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A;Gencode=Name\x3eENST00000361328.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9943259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.6239;1000g2015aug_all=0.752596;esp6500siv2_all=0.8054;ExAC_ALL=0.7443;ExAC_AFR=0.8250;ExAC_AMR=0.5276;ExAC_EAS=0.7444;ExAC_FIN=0.6947;ExAC_NFE=0.7790;ExAC_OTH=0.7257;ExAC_SAS=0.7288;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:3012,261,0 1 33961147 rs3795420 T G 1852.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=2.137;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSCAN20;Func=UTR3;Gene=NM_145238;GeneDetail=NM_145238:c.*71T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361328.7;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.6254;1000g2015aug_all=0.752796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1881,162,0 1 33975116 rs138175218 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145238,NM_052896;GeneDetail=dist\x3e13121\x3bdist\x3e4483;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10723\x3bName\x3e"76815:SVA_D(Retroposon)";avsnp150=rs138175218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.0692;1000g2015aug_all=0.124601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 33975131 rs7519831 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145238,NM_052896;GeneDetail=dist\x3e13136\x3bdist\x3e4468;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10723\x3bName\x3e"76815:SVA_D(Retroposon)";avsnp150=rs7519831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8336;1000g2015aug_amr=0.6167;1000g2015aug_all=0.744609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 33986045 rs57469281 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000619121.4,ENST00000373381.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57469281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.3156;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 34023749 rs915108 T C 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs915108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.8444;1000g2015aug_all=0.817292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 34033512 rs6703172 G C 1495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.509;DP=94;ExcessHet=3.0103;FS=0.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.648;SOR=0.55;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.274;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.147;1000g2015aug_all=0.222644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,53:93:99:1524,0,1245 1 34033636 rs66808281 G A 731.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.776;DP=50;ExcessHet=3.0103;FS=2.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-1.281;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66808281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.147;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,25:50:99:760,0,724 1 34034592 rs5007952 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5007952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.27;1000g2015aug_amr=0.147;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,96 1 34034649 rs5007951 G A 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.381;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5007951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.274;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.1455;1000g2015aug_all=0.220647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,301 1 34038214 rs2641962 T C 834.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.969;DP=61;ExcessHet=3.0103;FS=3.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.177;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CSMD2:NM_001281956:exon50:c.A7654G:p.M2552V,CSMD2:NM_052896:exon51:c.A7660G:p.M2554V;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2641962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.494;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.6542;1000g2015aug_all=0.509984;esp6500siv2_all=0.4849;ExAC_ALL=0.4996;ExAC_AFR=0.5201;ExAC_AMR=0.7271;ExAC_EAS=0.3764;ExAC_FIN=0.5;ExAC_NFE=0.4729;ExAC_OTH=0.4747;ExAC_SAS=0.5009;SIFT_score=0.672;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.036;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.77;MutationAssessor_pred=N;FATHMM_score=-0.0;FATHMM_pred=T;phyloP100way_vertebrate=0.298;phyloP20way_mammalian=-1.712;SiPhy_29way_logOdds=6.160;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,34:61:99:863,0,589 1 34038413 rs2794602 A C 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.475;DP=20;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.309;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.492;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.6643;1000g2015aug_all=0.523762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:237,0,322 1 34038620 rs2794603 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.6527;1000g2015aug_all=0.508387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 34038654 rs10712227 T A 58.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10712227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.6571;1000g2015aug_all=0.509784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 1 34042810 rs1389560 A G 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.969;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=0.237;SOR=0.965;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1389560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.4168;1000g2015aug_amr=0.232;1000g2015aug_all=0.349042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,19:30:99:589,0,335 1 34046646 rs292808 C A 558.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=-0.568;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000619121.4,ENST00000373381.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs292808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.2507;1000g2015aug_all=0.374601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,16:27:99:587,0,378 1 34052403 rs6425831 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.5778;1000g2015aug_all=0.54393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 34052605 rs7526990 A G 482.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000619121.4,ENST00000373381.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.6556;1000g2015aug_all=0.697284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:511,39,0 1 34061043 rs573470829 T C 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373380.5,ENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2034\x3bName\x3e"76969:L1MC4(LINE)";avsnp150=rs573470829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 34065436 rs10914750 C T 49.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373377.1,ENST00000619121.4,ENST00000373381.8,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e243\x3bName\x3e"76977:MamRep137(DNA)";avsnp150=rs10914750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.134;1000g2015aug_all=0.264776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 1 34070821 rs74830814 C T 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.006;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.934;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373380.5,ENST00000373377.1,ENST00000373388.6,ENST00000619121.4,ENST00000373381.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74830814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0467252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:268,0,364 1 34082279 rs10914755 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373377.1,ENST00000373388.6,ENST00000373381.8,ENST00000619121.4,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.1239;1000g2015aug_all=0.270367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:65:110,0,65 1 34090751 rs35761029 T A 2303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.961;DP=200;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.104;SOR=0.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CSMD2:NM_001281956:exon34:c.A5400T:p.E1800D,CSMD2:NM_052896:exon34:c.A5280T:p.E1760D;Gencode=Name\x3eENST00000373380.5,ENST00000373381.8,ENST00000619121.4,ENST00000373377.1,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35761029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.003;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0405351;esp6500siv2_all=0.0101;ExAC_ALL=0.0176;ExAC_AFR=0.0219;ExAC_AMR=0.0082;ExAC_EAS=0.1297;ExAC_FIN=0.0017;ExAC_NFE=0.0061;ExAC_OTH=0.0146;ExAC_SAS=0.0151;SIFT_score=0.106;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.014;MutationTaster_pred=P;MutationAssessor_score=2.205;MutationAssessor_pred=M;FATHMM_score=-0.22;FATHMM_pred=T;phyloP100way_vertebrate=0.258;phyloP20way_mammalian=-0.274;SiPhy_29way_logOdds=5.325;gerp++gt2=.;CADD=2.486;CADD_Phred=19.38;ALLELE_END GT:AD:DP:GQ:PL 0/1:104,95:199:99:2332,0,2776 1 34098959 rs604782 C G 308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.695;DP=18;ExcessHet=3.0103;FS=3.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.317;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373380.5,ENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs604782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.2104;1000g2015aug_all=0.202676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:337,0,238 1 34112303 rs10798976 G A 1220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.335;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.316;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSMD2:NM_001281956:exon29:c.C4719T:p.L1573L,CSMD2:NM_052896:exon29:c.C4599T:p.L1533L;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.004;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.0504;1000g2015aug_all=0.106829;esp6500siv2_all=0.0745;ExAC_ALL=0.0367;ExAC_AFR=0.2191;ExAC_AMR=0.0182;ExAC_EAS=0.1325;ExAC_FIN=0.0026;ExAC_NFE=0.0081;ExAC_OTH=0.0275;ExAC_SAS=0.0146;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,43:72:99:1249,0,756 1 34137448 rs529714 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs529714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9798;1000g2015aug_all=0.946086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 34137466 rs617090 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs617090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.9798;1000g2015aug_all=0.946286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 34158472 rs12757315 C T 2598.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.194;DP=127;ExcessHet=3.0103;FS=3.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=-0.803;SOR=1.094;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373380.5,ENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.4179;1000g2015aug_all=0.344848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,68:127:99:2627,0,2931 1 34158482 rs12757320 C T 2703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.245;DP=146;ExcessHet=3.0103;FS=4.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=0.464;SOR=1.118;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000619121.4,ENST00000373381.8,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.4179;1000g2015aug_all=0.344848;esp6500siv2_all=0.3408;ExAC_ALL=0.3832;ExAC_AFR=0.2627;ExAC_AMR=0.4723;ExAC_EAS=0.3102;ExAC_FIN=0.3269;ExAC_NFE=0.3949;ExAC_OTH=0.3877;ExAC_SAS=0.4099;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,73:146:99:2732,0,3259 1 34164286 rs1887918 A G 514.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.41;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.886;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.4308;1000g2015aug_all=0.367612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:543,0,380 1 34166210 rs146082635 C T 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.529;DP=42;ExcessHet=3.0103;FS=2.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.674;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CSMD2:NM_001281956:exon23:c.G3640A:p.G1214R,CSMD2:NM_052896:exon23:c.G3520A:p.G1174R;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6,ENST00000373380.5;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs146082635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=0.0009;ExAC_ALL=0.0010;ExAC_AFR=0.0002;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0016;ExAC_OTH=0.0011;ExAC_SAS=0;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.723;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.586;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.754;MutationTaster_pred=D;MutationAssessor_score=1.94;MutationAssessor_pred=M;FATHMM_score=2.27;FATHMM_pred=T;phyloP100way_vertebrate=4.087;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=12.424;gerp++gt2=5.34;CADD=4.323;CADD_Phred=24.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,18:42:99:421,0,638 1 34177600 rs10914767 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.4107;1000g2015aug_all=0.291134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 34180109 rs141495644 G A 759.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.222;DP=70;ExcessHet=3.0103;FS=2.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.361;SOR=1.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141495644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0129;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,25:70:99:788,0,1292 1 34189917 rs519370 C T 3570.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs519370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.8156;1000g2015aug_all=0.789736;esp6500siv2_all=0.6825;ExAC_ALL=0.7140;ExAC_AFR=0.7391;ExAC_AMR=0.8235;ExAC_EAS=0.9976;ExAC_FIN=0.6831;ExAC_NFE=0.6585;ExAC_OTH=0.6685;ExAC_SAS=0.7126;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3599,333,0 1 34205134 rs12117137 C T 551.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.52;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12117137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.665;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.5576;1000g2015aug_all=0.507188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:580,45,0 1 34257817 rs61799752 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338325.1,ENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61799752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.111;1000g2015aug_all=0.096845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 34270498 rs10737374 G A 465.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.507;DP=43;ExcessHet=3.0103;FS=4.546;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.196;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000338325.1,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.6899;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.8631;1000g2015aug_all=0.884984;esp6500siv2_all=.;ExAC_ALL=0.8326;ExAC_AFR=0.9161;ExAC_AMR=0.8630;ExAC_EAS=0.9671;ExAC_FIN=0.7418;ExAC_NFE=0.7300;ExAC_OTH=0.7988;ExAC_SAS=0.8876;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.91;FATHMM_pred=T;phyloP100way_vertebrate=-0.316;phyloP20way_mammalian=-0.267;SiPhy_29way_logOdds=6.413;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,19:43:99:494,0,623 1 34285342 rs17342512 G A 1381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.607;DP=115;ExcessHet=3.0103;FS=0.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.296;SOR=0.797;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSMD2:NM_001281956:exon9:c.C1296T:p.A432A,CSMD2:NM_052896:exon9:c.C1176T:p.A392A;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17342512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.584;1000g2015aug_amr=0.6441;1000g2015aug_all=0.601637;esp6500siv2_all=0.5344;ExAC_ALL=0.5524;ExAC_AFR=0.5751;ExAC_AMR=0.5857;ExAC_EAS=0.6625;ExAC_FIN=0.5605;ExAC_NFE=0.5226;ExAC_OTH=0.5089;ExAC_SAS=0.5768;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,51:115:99:1410,0,1909 1 34285381 rs11578857 C T 1494.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.394;DP=144;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.797;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=exonic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSMD2:NM_001281956:exon9:c.G1257A:p.K419K,CSMD2:NM_052896:exon9:c.G1137A:p.K379K;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.584;1000g2015aug_amr=0.6455;1000g2015aug_all=0.601438;esp6500siv2_all=0.5348;ExAC_ALL=0.5528;ExAC_AFR=0.5760;ExAC_AMR=0.5871;ExAC_EAS=0.6635;ExAC_FIN=0.5610;ExAC_NFE=0.5230;ExAC_OTH=0.5099;ExAC_SAS=0.5760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,63:143:99:1523,0,2258 1 34285995 rs3795414 G A 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.282;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.97;ReadPosRankSum=-0.812;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.6081;1000g2015aug_all=0.482628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:56:253,0,56 1 34286189 rs3843294 A C 136.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21\x3bName\x3e"77378:(A)n(Simple_repeat)";avsnp150=rs3843294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.1240;ExAC_ALL=0.1036;ExAC_AFR=0.1107;ExAC_AMR=0.0299;ExAC_EAS=0.0430;ExAC_FIN=0.1382;ExAC_NFE=0.1422;ExAC_OTH=0.1087;ExAC_SAS=0.0199;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:164,12,0 1 34291094 rs10914785 A C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"77382:GA-rich(Low_complexity)";avsnp150=rs10914785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.938;1000g2015aug_amr=0.7277;1000g2015aug_all=0.735623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:56:110,0,56 1 34312179 rs746667 C G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373381.8,ENST00000619121.4,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e524\x3bName\x3e"77404:MIRb(SINE)";avsnp150=rs746667;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.671;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.8703;1000g2015aug_all=0.878195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 34329897 rs911218 T C 2241.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2,HMGB4;Func=exonic;Gene=NM_145205;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HMGB4:NM_145205:exon2:c.T105C:p.Y35Y;Gencode=Name\x3eENST00000522796.1,ENST00000373388.6,ENST00000519684.5,ENST00000619121.4,ENST00000373381.8;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs911218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.987;1000g2015aug_all=0.988219;esp6500siv2_all=0.9669;ExAC_ALL=0.9713;ExAC_AFR=0.9913;ExAC_AMR=0.9820;ExAC_EAS=1;ExAC_FIN=0.9675;ExAC_NFE=0.9574;ExAC_OTH=0.9679;ExAC_SAS=0.9943;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2270,210,0 1 34330067 rs10379 A C 1637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.552;DP=120;ExcessHet=3.0103;FS=2.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.32;SOR=0.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2,HMGB4;Func=exonic;Gene=NM_145205;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HMGB4:NM_145205:exon2:c.A275C:p.E92A;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000519684.5,ENST00000373388.6,ENST00000522796.1;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.9063;1000g2015aug_all=0.901158;esp6500siv2_all=0.8232;ExAC_ALL=0.8262;ExAC_AFR=0.9572;ExAC_AMR=0.9050;ExAC_EAS=0.8863;ExAC_FIN=0.7818;ExAC_NFE=0.7702;ExAC_OTH=0.8046;ExAC_SAS=0.9010;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=-3.395;MutationAssessor_pred=N;FATHMM_score=-3.15;FATHMM_pred=D;phyloP100way_vertebrate=2.354;phyloP20way_mammalian=0.056;SiPhy_29way_logOdds=11.928;gerp++gt2=5.58;CADD=1.356;CADD_Phred=12.56;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,61:120:99:1666,0,1660 1 34383554 rs12124122 T C 630.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.297;DP=46;ExcessHet=3.0103;FS=2.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.17;SOR=1.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12124122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.034;1000g2015aug_amr=0.0764;1000g2015aug_all=0.103435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,21:46:99:659,0,736 1 34609394 rs705210 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619121.4,ENST00000373381.8,ENST00000373388.6;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.9308;1000g2015aug_all=0.80611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 34627949 rs771122 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSMD2;Func=intronic;Gene=NM_001281956,NM_052896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373388.6,ENST00000373381.8,ENST00000619121.4;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.8401;1000g2015aug_all=0.780351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 34701662 rs1335856 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032884,NR_030278;GeneDetail=dist\x3e16931\x3bdist\x3e433538;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3265\x3bName\x3e"78277:MER51A(LTR)";avsnp150=rs1335856;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.536;1000g2015aug_all=0.440296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 34736052 rs7524118 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032884,NR_030278;GeneDetail=dist\x3e51321\x3bdist\x3e399148;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p35.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e402\x3bName\x3e"78334:L4_C_Mam(LINE)";avsnp150=rs7524118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.7824;1000g2015aug_all=0.674521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 34821598 rs1404349 G A 141.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.66;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032884,NR_030278;GeneDetail=dist\x3e136867\x3bdist\x3e313602;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1105\x3bName\x3e"78504:MLT1L(LTR)";avsnp150=rs1404349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.662;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.6556;1000g2015aug_all=0.616014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 1 34821601 rs1404348 A G 141.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032884,NR_030278;GeneDetail=dist\x3e136870\x3bdist\x3e313599;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1105\x3bName\x3e"78504:MLT1L(LTR)";avsnp150=rs1404348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.662;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.6599;1000g2015aug_all=0.613419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:169,12,0 1 35155813 rs559562713 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_030278,NM_005268;GeneDetail=dist\x3e20518\x3bdist\x3e64835;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e353\x3bName\x3e"79213:LTR85c(LTR)";avsnp150=rs559562713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 35155814 rs7549650 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_030278,NM_005268;GeneDetail=dist\x3e20519\x3bdist\x3e64834;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e353\x3bName\x3e"79213:LTR85c(LTR)";avsnp150=rs7549650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.4372;1000g2015aug_amr=0.3055;1000g2015aug_all=0.505391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 35223913 rs28695349 A C 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=0.811;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJB5;Func=UTR3;Gene=NM_005268;GeneDetail=NM_005268:c.*160A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338513.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e206\x3bName\x3e"79374:MIR(SINE)";avsnp150=rs28695349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:250,0,250 1 35227673 rs755931 A G 1193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.53;DP=70;ExcessHet=3.0103;FS=2.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=1.223;SOR=1.055;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJB4;Func=UTR3;Gene=NM_153212;GeneDetail=NM_153212:c.*17A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339480.1,ENST00000542839.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs755931;cosmic70=.;CLNALLELEID=192581;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.1326;1000g2015aug_all=0.141973;esp6500siv2_all=0.1063;ExAC_ALL=0.0962;ExAC_AFR=0.2892;ExAC_AMR=0.1416;ExAC_EAS=0.1791;ExAC_FIN=0.0545;ExAC_NFE=0.0546;ExAC_OTH=0.1023;ExAC_SAS=0.0694;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,40:70:99:1222,0,767 1 35251229 rs476220 G A 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.615;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJB3;Func=UTR3;Gene=NM_001005752,NM_024009;GeneDetail=NM_001005752:c.*53G>A\x3bNM_024009:c.*53G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373362.3,ENST00000373366.2,ENST00000542839.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs476220;cosmic70=.;CLNALLELEID=280761;CLNDN=Erythrokeratodermia_variabilis|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:C0265961,OMIM:133200,Orphanet:ORPHA317,SNOMED_CT:70041004|MedGen:CN239435;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.389;1000g2015aug_all=0.403954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:252,0,274 1 35259946 rs1764389 G A 1397.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.509;DP=128;ExcessHet=3.0103;FS=3.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.44;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA4;Func=exonic;Gene=NM_002060;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GJA4:NM_002060:exon2:c.G132A:p.V44V;Gencode=Name\x3eENST00000342280.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1764389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.1614;1000g2015aug_all=0.236022;esp6500siv2_all=0.2806;ExAC_ALL=0.2044;ExAC_AFR=0.4370;ExAC_AMR=0.1002;ExAC_EAS=0.1428;ExAC_FIN=0.3100;ExAC_NFE=0.2114;ExAC_OTH=0.2081;ExAC_SAS=0.0924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,60:127:99:1426,0,1792 1 35259961 rs1764390 A G 1410.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.712;DP=128;ExcessHet=3.0103;FS=5.396;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.663;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA4;Func=exonic;Gene=NM_002060;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GJA4:NM_002060:exon2:c.A147G:p.Q49Q;Gencode=Name\x3eENST00000342280.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1764390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.499;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.513;1000g2015aug_all=0.621406;esp6500siv2_all=0.7061;ExAC_ALL=0.6175;ExAC_AFR=0.8256;ExAC_AMR=0.4546;ExAC_EAS=0.4783;ExAC_FIN=0.7136;ExAC_NFE=0.6493;ExAC_OTH=0.6399;ExAC_SAS=0.5050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,58:126:99:1439,0,1654 1 35260769 rs1764391 C T 1619.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.091;DP=127;ExcessHet=3.0103;FS=6.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.654;SOR=0.373;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA4;Func=exonic;Gene=NM_002060;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GJA4:NM_002060:exon2:c.C955T:p.P319S;Gencode=Name\x3eENST00000342280.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1764391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.332;1000g2015aug_afr=0.5847;1000g2015aug_amr=0.2723;1000g2015aug_all=0.333666;esp6500siv2_all=0.3781;ExAC_ALL=0.3134;ExAC_AFR=0.5389;ExAC_AMR=0.2376;ExAC_EAS=0.1716;ExAC_FIN=0.4314;ExAC_NFE=0.3191;ExAC_OTH=0.3103;ExAC_SAS=0.2273;SIFT_score=0.802;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.585;MutationAssessor_pred=N;FATHMM_score=-4.25;FATHMM_pred=D;phyloP100way_vertebrate=-0.296;phyloP20way_mammalian=-0.202;SiPhy_29way_logOdds=5.862;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,71:126:99:1648,0,1457 1 35260929 rs3543 G A 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.467;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.954;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA4;Func=UTR3;Gene=NM_002060;GeneDetail=NM_002060:c.*113G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342280.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.5303;1000g2015aug_all=0.655551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:808,0,557 1 35332926 rs1001616 G C 655.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.311;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.798;SOR=0.58;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDLGAP3;Func=intronic;Gene=NM_001080418;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235180.4,ENST00000373347.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1001616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.501;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.059;1000g2015aug_amr=0.4654;1000g2015aug_all=0.402556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,22:41:99:684,0,550 1 35374346 rs1931058 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDLGAP3;Func=intronic;Gene=NM_001080418;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373347.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1931058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.146;1000g2015aug_amr=0.2133;1000g2015aug_all=0.130591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 35561510 rs2101973 G A 379.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYM1;Func=intronic;Gene=NM_001289088,NM_001289089,NM_001289090,NM_001289091,NM_001319955,NM_024772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373330.1,ENST00000611874.4,ENST00000359858.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2101973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.6254;1000g2015aug_all=0.557508;esp6500siv2_all=0.7240;ExAC_ALL=0.7620;ExAC_AFR=0.3340;ExAC_AMR=0.6002;ExAC_EAS=0.3622;ExAC_FIN=0.8424;ExAC_NFE=0.8878;ExAC_OTH=0.7644;ExAC_SAS=0.7979;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:408,39,0 1 35562965 rs2971408 G A 1483.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYM1;Func=exonic;Gene=NM_001289088,NM_001289089,NM_001289090,NM_024772;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M;Gencode=Name\x3eENST00000373330.1,ENST00000611874.4,ENST00000359858.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2971408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.7392;1000g2015aug_all=0.829073;esp6500siv2_all=0.8947;ExAC_ALL=0.8804;ExAC_AFR=0.8185;ExAC_AMR=0.7191;ExAC_EAS=0.7640;ExAC_FIN=0.8712;ExAC_NFE=0.9257;ExAC_OTH=0.8703;ExAC_SAS=0.9124;SIFT_score=0.556;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=2.23;FATHMM_pred=T;phyloP100way_vertebrate=0.069;phyloP20way_mammalian=-0.866;SiPhy_29way_logOdds=6.658;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1512,138,0 1 35563206 rs6658571 C G 617.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.32;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYM1;Func=intronic;Gene=NM_001289088,NM_001289089,NM_001289090,NM_001289091,NM_001319955,NM_024772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359858.8,ENST00000611874.4,ENST00000373330.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.6441;1000g2015aug_all=0.590056;esp6500siv2_all=0.7534;ExAC_ALL=0.7709;ExAC_AFR=0.4307;ExAC_AMR=0.6051;ExAC_EAS=0.3623;ExAC_FIN=0.8422;ExAC_NFE=0.8885;ExAC_OTH=0.7701;ExAC_SAS=0.7984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:646,54,0 1 35576145 rs2935955 C T 455.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYM1;Func=intronic;Gene=NM_001289088,NM_001289089,NM_001289090,NM_001289091,NM_001319955,NM_024772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359858.8,ENST00000611874.4,ENST00000373330.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2935955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.7493;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:484,42,0 1 35653361 . A G 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.06;DP=7;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.876;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSFPQ;Func=intronic;Gene=NM_005066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357214.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2216\x3bName\x3e"80448:AluSq2(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:51:144,0,51 1 35915744 rs147576233 A G 758.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.17;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.454;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0319L;Func=intronic;Gene=NM_024874;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373266.8,ENST00000325722.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147576233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,25:41:99:787,0,511 1 35925861 rs2819002 C A 1391.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0319L;Func=intronic;Gene=NM_024874;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000325722.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.986621;esp6500siv2_all=0.9629;ExAC_ALL=0.9678;ExAC_AFR=0.9895;ExAC_AMR=0.9814;ExAC_EAS=0.9995;ExAC_FIN=0.9601;ExAC_NFE=0.9529;ExAC_OTH=0.9729;ExAC_SAS=0.9921;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1420,131,0 1 36101730 rs523743 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMB2;Func=intronic;Gene=NM_001199779,NM_002794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373237.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2140\x3bName\x3e"81594:MLT1B(LTR)";avsnp150=rs523743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 36107250 rs567476 G C 1148.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.45;SOR=6.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMB2;Func=UTR5;Gene=NM_002794;GeneDetail=NM_002794:c.-217C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373237.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs567476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1177,87,0 1 36135407 rs793960 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002794,NM_001348691;GeneDetail=dist\x3e27962\x3bdist\x3e44070;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2432\x3bName\x3e"81690:AluYj4(SINE)";avsnp150=rs793960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.9851;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.938;1000g2015aug_all=0.810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 36156567 rs11264188 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002794,NM_001348691;GeneDetail=dist\x3e49122\x3bdist\x3e22910;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.5951;1000g2015aug_all=0.582867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 36172974 rs10732961 C G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002794,NM_001348691;GeneDetail=dist\x3e65529\x3bdist\x3e6503;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10732961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 36182139 rs11580984 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf216;Func=UTR5;Gene=NM_001348691;GeneDetail=NM_001348691:c.-217G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270815.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.5461;1000g2015aug_all=0.496406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 36184975 rs7521021 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_152374\x3bNM_001330490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270815.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e229\x3bName\x3e"81839:L2a(LINE)";avsnp150=rs7521021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 36203720 . T * 383.77 PASS AC=1;AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.76;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSPN;Func=intronic;Gene=NM_001190481,NM_001330490,NM_022111;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373220.7,ENST00000251195.9,ENST00000318121.7,ENST00000520551.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"81876:(AT)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,4:9:99:412,129,99 1 36203720 rs201555109 T A 383.77 PASS AC=1;AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.76;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSPN;Func=intronic;Gene=NM_001190481,NM_001330490,NM_022111;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251195.9,ENST00000318121.7,ENST00000373220.7,ENST00000520551.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"81876:(AT)n(Simple_repeat)";avsnp150=rs201555109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3664;ExAC_AFR=0.2331;ExAC_AMR=0.2429;ExAC_EAS=0.3061;ExAC_FIN=0.12;ExAC_NFE=0.3382;ExAC_OTH=0.35;ExAC_SAS=0.4796;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,5:9:99:412,144,121 1 36203722 rs199569493 T A 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.08;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSPN;Func=intronic;Gene=NM_001190481,NM_001330490,NM_022111;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000520551.1,ENST00000318121.7,ENST00000251195.9,ENST00000373220.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"81876:(AT)n(Simple_repeat)";avsnp150=rs199569493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4091;ExAC_AFR=0.1657;ExAC_AMR=0.3022;ExAC_EAS=0.2807;ExAC_FIN=0.4091;ExAC_NFE=0.4564;ExAC_OTH=0.3810;ExAC_SAS=0.4439;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:47:239,0,47 1 36205166 rs577483 A G 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSPN;Func=intronic;Gene=NM_001190481,NM_001330490,NM_022111;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373226.2,ENST00000520551.1,ENST00000251195.9,ENST00000318121.7,ENST00000373220.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs577483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.5605;1000g2015aug_all=0.520367;esp6500siv2_all=0.6910;ExAC_ALL=0.7271;ExAC_AFR=0.3226;ExAC_AMR=0.5301;ExAC_EAS=0.2057;ExAC_FIN=0.8401;ExAC_NFE=0.8649;ExAC_OTH=0.7556;ExAC_SAS=0.7956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 36213712 rs516992 G T 1168.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLSPN;Func=intronic;Gene=NM_001190481,NM_001330490,NM_022111;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000520551.1,ENST00000251195.9,ENST00000318121.7,ENST00000373220.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs516992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975639;esp6500siv2_all=0.9799;ExAC_ALL=0.9944;ExAC_AFR=0.9376;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9966;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1197,108,0 1 36282417 rs2791960 A G 862.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.96;SOR=2.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGO4;Func=intronic;Gene=NM_017629;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373210.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2451\x3bName\x3e"82109:AluSq4(SINE)";avsnp150=rs2791960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:93:891,93,0 1 36288635 rs41312028 G A 628.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.243;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.694;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGO4;Func=intronic;Gene=NM_017629;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373210.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41312028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.013;1000g2015aug_all=0.0119808;esp6500siv2_all=0.0279;ExAC_ALL=0.0256;ExAC_AFR=0.0063;ExAC_AMR=0.0095;ExAC_EAS=0;ExAC_FIN=0.0548;ExAC_NFE=0.0361;ExAC_OTH=0.0166;ExAC_SAS=0.0092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,26:53:99:657,0,684 1 36316304 rs4233204 G C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGO4;Func=intronic;Gene=NM_017629;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373210.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2180\x3bName\x3e"82203:AluSx(SINE)";avsnp150=rs4233204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 36316571 rs4652895 A C 5192.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.966;DP=173;ExcessHet=3.0103;FS=3.225;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.28;ReadPosRankSum=0.25;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGO4;Func=exonic;Gene=NM_017629;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGO4:NM_017629:exon17:c.A2394C:p.S798S;Gencode=Name\x3eENST00000373210.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.5375;1000g2015aug_all=0.491014;esp6500siv2_all=0.6575;ExAC_ALL=0.7157;ExAC_AFR=0.2423;ExAC_AMR=0.5244;ExAC_EAS=0.1941;ExAC_FIN=0.8376;ExAC_NFE=0.8573;ExAC_OTH=0.7517;ExAC_SAS=0.7965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,165:166:99:5221,487,0 1 36551895 rs408986 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEKT2;Func=intronic;Gene=NM_014466;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000207457.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e499\x3bName\x3e"82787:MER117(DNA)";avsnp150=rs408986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9085;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9395;1000g2015aug_all=0.937899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 36553673 rs399393 A G 4958.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.974;DP=152;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.251;SOR=0.315;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEKT2;Func=exonic;Gene=NM_014466;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TEKT2:NM_014466:exon10:c.A1179G:p.T393T;Gencode=Name\x3eENST00000207457.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs399393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.9395;1000g2015aug_all=0.938698;esp6500siv2_all=0.9203;ExAC_ALL=0.9252;ExAC_AFR=0.9205;ExAC_AMR=0.9629;ExAC_EAS=0.9992;ExAC_FIN=0.9031;ExAC_NFE=0.9140;ExAC_OTH=0.9211;ExAC_SAS=0.9170;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,151:152:99:4987,415,0 1 36554442 rs11263852 G C 1046.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=6.593;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_017825\x3bNM_014466;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11263852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.8793;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.6225;1000g2015aug_all=0.669928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1075,78,0 1 36563158 rs3738360 C A 1821.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.487;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL8A2;Func=UTR3;Gene=NM_001294347,NM_005202;GeneDetail=NM_001294347:c.*12G>T\x3bNM_005202:c.*12G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397799.1,ENST00000481785.1,ENST00000303143.8,ENST00000615990.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.611;1000g2015aug_all=0.65635;esp6500siv2_all=0.7839;ExAC_ALL=0.8004;ExAC_AFR=0.5223;ExAC_AMR=0.6086;ExAC_EAS=0.4663;ExAC_FIN=0.8469;ExAC_NFE=0.8980;ExAC_OTH=0.8200;ExAC_SAS=0.8718;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1850,164,0 1 36565362 rs6693322 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL8A2;Func=intronic;Gene=NM_001294347,NM_005202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000481785.1,ENST00000303143.8,ENST00000397799.1,ENST00000615990.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.5173;1000g2015aug_all=0.44349;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 36565584 rs274753 C G 788.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.95;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL8A2;Func=intronic;Gene=NM_001294347,NM_005202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397799.1,ENST00000481785.1,ENST00000303143.8,ENST00000615990.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs274753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.91;1000g2015aug_amr=0.9222;1000g2015aug_all=0.921725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:817,66,0 1 36565617 rs274754 G A 1276.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL8A2;Func=intronic;Gene=NM_001294347,NM_005202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615990.1,ENST00000397799.1,ENST00000303143.8,ENST00000481785.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs274754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.5202;1000g2015aug_all=0.482628;esp6500siv2_all=0.6529;ExAC_ALL=0.6492;ExAC_AFR=0.3887;ExAC_AMR=0.4905;ExAC_EAS=0.2092;ExAC_FIN=0.6831;ExAC_NFE=0.7735;ExAC_OTH=0.6524;ExAC_SAS=0.6397;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1305,111,0 1 36565999 rs4652900 A G 561.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.95;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL8A2;Func=intronic;Gene=NM_001294347,NM_005202;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397799.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.5317;1000g2015aug_all=0.493411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:590,45,0 1 36602943 rs2231318 C T 1335.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAPPC3;Func=intronic;Gene=NM_001270894,NM_001270895,NM_001270896,NM_001270897,NM_014408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373166.7,ENST00000616395.4,ENST00000373163.5,ENST00000616074.4,ENST00000373162.5,ENST00000617904.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2231318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.8098;1000g2015aug_all=0.750399;esp6500siv2_all=0.7716;ExAC_ALL=0.7423;ExAC_AFR=0.8349;ExAC_AMR=0.8471;ExAC_EAS=0.7195;ExAC_FIN=0.6737;ExAC_NFE=0.7413;ExAC_OTH=0.7062;ExAC_SAS=0.6555;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1364,120,0 1 36603290 rs2231317 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAPPC3;Func=intronic;Gene=NM_001270894,NM_001270895,NM_001270896,NM_001270897,NM_014408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373163.5,ENST00000373166.7,ENST00000616395.4,ENST00000373162.5,ENST00000617904.4,ENST00000616074.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2231317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4643;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.5375;1000g2015aug_all=0.507388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 36614713 rs10752586 C G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAPPC3;Func=UTR5;Gene=NM_001270896;GeneDetail=NM_001270896:c.-9042G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617904.4,ENST00000373162.5,ENST00000616074.4,ENST00000373159.1,ENST00000373163.5,ENST00000616395.4,ENST00000373166.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.8759;1000g2015aug_amr=0.8689;1000g2015aug_all=0.809505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 36616337 rs3754080 T C 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAPPC3;Func=intronic;Gene=NM_001270895;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617904.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.4942;1000g2015aug_all=0.480032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 36641729 rs2296263 C T 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP7D1;Func=intronic;Gene=NM_001286365,NM_001286366,NM_018067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000316156.8,ENST00000373151.6,ENST00000373150.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.4467;1000g2015aug_all=0.446885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 36642420 rs475591 T C 1160.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP7D1;Func=exonic;Gene=NM_001286365,NM_001286366,NM_018067;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S;Gencode=Name\x3eENST00000316156.8,ENST00000373151.6,ENST00000373150.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs475591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.781;1000g2015aug_all=0.750399;esp6500siv2_all=0.6621;ExAC_ALL=0.6682;ExAC_AFR=0.8440;ExAC_AMR=0.8331;ExAC_EAS=0.9305;ExAC_FIN=0.6070;ExAC_NFE=0.5929;ExAC_OTH=0.6398;ExAC_SAS=0.5931;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1189,105,0 1 36642991 rs6686192 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP7D1;Func=intronic;Gene=NM_001286365,NM_001286366,NM_018067;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373150.8,ENST00000373151.6,ENST00000316156.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e846\x3bName\x3e"82992:AluJo(SINE)";avsnp150=rs6686192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.4467;1000g2015aug_all=0.446885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 36707851 rs4653168 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1660\x3bName\x3e"83205:AluJo(SINE)";avsnp150=rs4653168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.9885;1000g2015aug_all=0.957069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 36743010 rs9330252 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469141.6,ENST00000354618.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1235\x3bName\x3e"83315:AluSx1(SINE)";avsnp150=rs9330252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9554;1000g2015aug_sas=0.9908;1000g2015aug_eur=1;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.9467;1000g2015aug_all=0.85603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 36752433 rs6425977 C T 5053.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.97;QD=34.61;SOR=1.267;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=exonic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.94375\x3bName\x3echr3:31452962;Repeat=.;avsnp150=rs6425977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9484;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.8602;1000g2015aug_all=0.795527;esp6500siv2_all=0.7813;ExAC_ALL=0.8625;ExAC_AFR=0.5784;ExAC_AMR=0.9248;ExAC_EAS=0.9406;ExAC_FIN=0.9173;ExAC_NFE=0.8788;ExAC_OTH=0.8590;ExAC_SAS=0.8687;SIFT_score=0.153;SIFT_pred=T;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.058;Polyphen2_HVAR_pred=B;LRT_score=0.132;LRT_pred=N;MutationTaster_score=0.263;MutationTaster_pred=P;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=2.54;FATHMM_pred=T;phyloP100way_vertebrate=0.740;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=13.973;gerp++gt2=4.79;CADD=2.445;CADD_Phred=19.11;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:5082,438,0 1 36754467 rs6425978 G C 748.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.04;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.94375\x3bName\x3echr3:31452962;Repeat=.;avsnp150=rs6425978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9741;1000g2015aug_all=0.926118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:777,63,0 1 36754522 rs6425979 C A 1001.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469141.6,ENST00000354618.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.94375\x3bName\x3echr3:31452962;Repeat=.;avsnp150=rs6425979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.761;1000g2015aug_amr=0.9741;1000g2015aug_all=0.925919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1030,90,0 1 36758652 rs3007205 T C 72.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469141.6,ENST00000354618.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2388\x3bName\x3e"83340:AluSx(SINE)";avsnp150=rs3007205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9885;1000g2015aug_all=0.982628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:100,9,0 1 36758689 rs3007204 A G 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469141.6,ENST00000354618.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2388\x3bName\x3e"83340:AluSx(SINE)";avsnp150=rs3007204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9856;1000g2015aug_all=0.969249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 36762396 rs1566589 C T 712.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.94;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1566589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9741;1000g2015aug_all=0.926118;esp6500siv2_all=0.9402;ExAC_ALL=0.9788;ExAC_AFR=0.8133;ExAC_AMR=0.9915;ExAC_EAS=0.9717;ExAC_FIN=0.9970;ExAC_NFE=0.9990;ExAC_OTH=0.9882;ExAC_SAS=0.9925;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:741,63,0 1 36766975 rs10908293 G C 618.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9484;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:647,54,0 1 36767400 rs882799 C T 1351.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHRAP3;Func=intronic;Gene=NM_001321471,NM_001321473,NM_005119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354618.9,ENST00000469141.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs882799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9484;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1380,120,0 1 36772142 . C A 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.714;DP=41;ExcessHet=3.0103;FS=4.926;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-1.183;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH3D21;Func=intronic;Gene=NM_001162530;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453908.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:421,0,758 1 36773405 rs35343437 T G 4472.77 PASS AC=2;AF=1;AN=2;DP=136;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=0.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH3D21;Func=exonic;Gene=NM_001162530,NM_024676;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SH3D21:NM_024676:exon3:c.T138G:p.P46P,SH3D21:NM_001162530:exon6:c.T471G:p.P157P;Gencode=Name\x3eENST00000505871.5,ENST00000453908.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35343437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.562;1000g2015aug_all=0.421126;esp6500siv2_all=0.3995;ExAC_ALL=0.4518;ExAC_AFR=0.1757;ExAC_AMR=0.5631;ExAC_EAS=0.7186;ExAC_FIN=0.4987;ExAC_NFE=0.4727;ExAC_OTH=0.4958;ExAC_SAS=0.4673;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,136:136:99:4501,408,0 1 36773819 rs11263871 C G 1929.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH3D21;Func=intronic;Gene=NM_001162530,NM_024676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000505871.5,ENST00000453908.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11263871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.9939;1000g2015aug_eur=1;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9741;1000g2015aug_all=0.927117;esp6500siv2_all=0.9450;ExAC_ALL=0.9744;ExAC_AFR=0.8175;ExAC_AMR=0.9781;ExAC_EAS=0.9770;ExAC_FIN=0.9954;ExAC_NFE=0.9991;ExAC_OTH=0.9831;ExAC_SAS=0.9941;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:1958,191,0 1 36785270 rs2282431 C T 1421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.16;DP=114;ExcessHet=3.0103;FS=0.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.95;SOR=0.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH3D21;Func=intronic;Gene=NM_001162530,NM_024676;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000505871.5,ENST00000453908.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6637;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.4654;1000g2015aug_all=0.375599;esp6500siv2_all=0.2652;ExAC_ALL=0.4276;ExAC_AFR=0.4079;ExAC_AMR=0.6575;ExAC_EAS=0.7167;ExAC_FIN=0.3738;ExAC_NFE=0.3615;ExAC_OTH=0.3638;ExAC_SAS=0.3327;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,52:114:99:1450,0,1682 1 36788356 rs7536394 A G 1201.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVA1B;Func=intronic;Gene=NM_001304762,NM_018166;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000270824.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.9856;1000g2015aug_all=0.974241;esp6500siv2_all=0.9887;ExAC_ALL=0.9938;ExAC_AFR=0.9692;ExAC_AMR=0.9830;ExAC_EAS=0.9759;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9926;ExAC_SAS=0.9931;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1230,111,0 1 36807481 rs3795498 C T 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.384;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.355;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTK40;Func=exonic;Gene=NM_001282546,NM_001282547,NM_032017;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=STK40:NM_001282546:exon11:c.G1198A:p.A400T,STK40:NM_001282547:exon11:c.G1183A:p.A395T,STK40:NM_032017:exon12:c.G1183A:p.A395T;Gencode=Name\x3eENST00000373130.7,ENST00000373132.3,ENST00000373129.7,ENST00000359297.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.1369;1000g2015aug_all=0.179113;esp6500siv2_all=0.2334;ExAC_ALL=0.2128;ExAC_AFR=0.1912;ExAC_AMR=0.1185;ExAC_EAS=0.1140;ExAC_FIN=0.1963;ExAC_NFE=0.2448;ExAC_OTH=0.1944;ExAC_SAS=0.2228;SIFT_score=0.114;SIFT_pred=T;Polyphen2_HDIV_score=0.04;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;phyloP100way_vertebrate=5.743;phyloP20way_mammalian=0.919;SiPhy_29way_logOdds=17.506;gerp++gt2=5.11;CADD=3.937;CADD_Phred=23.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,20:47:99:441,0,749 1 36824321 rs3795496 C T 1300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.156;DP=85;ExcessHet=3.0103;FS=6.537;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.04;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTK40;Func=intronic;Gene=NM_001282546,NM_001282547,NM_032017;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373129.7,ENST00000359297.6,ENST00000373130.7,ENST00000373132.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0926518;esp6500siv2_all=0.1293;ExAC_ALL=0.1507;ExAC_AFR=0.0329;ExAC_AMR=0.1018;ExAC_EAS=0.0648;ExAC_FIN=0.1928;ExAC_NFE=0.1744;ExAC_OTH=0.1541;ExAC_SAS=0.1916;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,44:85:99:1329,0,1209 1 36872165 rs143726401 G T 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032881,NM_145047;GeneDetail=dist\x3e8605\x3bdist\x3e11342;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e169\x3bName\x3e"83607:(CTTC)n(Simple_repeat)";avsnp150=rs143726401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.1628;1000g2015aug_all=0.182508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 36886364 rs2275478 C G 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.011;DP=22;ExcessHet=3.0103;FS=3.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=0.703;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOSCP1;Func=intronic;Gene=NM_001330493,NM_145047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356637.9,ENST00000433045.6,ENST00000235532.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.789;1000g2015aug_amr=0.5231;1000g2015aug_all=0.694489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:397,0,310 1 36887702 rs2236565 C T 1025.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.372;DP=93;ExcessHet=3.0103;FS=1.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.34;SOR=0.887;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOSCP1;Func=intronic;Gene=NM_001330493,NM_145047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433045.6,ENST00000356637.9,ENST00000235532.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.5288;1000g2015aug_all=0.706669;esp6500siv2_all=0.7039;ExAC_ALL=0.6545;ExAC_AFR=0.8151;ExAC_AMR=0.4793;ExAC_EAS=0.6493;ExAC_FIN=0.5940;ExAC_NFE=0.6435;ExAC_OTH=0.6634;ExAC_SAS=0.7468;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,42:93:99:1054,0,1304 1 36909385 rs10908303 G A 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.042;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOSCP1;Func=intronic;Gene=NM_001330493,NM_145047,NM_206837;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356637.9,ENST00000235532.9,ENST00000354267.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.332;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.1988;1000g2015aug_all=0.225439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:444,0,231 1 36921371 rs1538634 G T 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.713;DP=34;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.637;SOR=0.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPS15;Func=UTR3;Gene=NM_031280;GeneDetail=NM_031280:c.*18C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373116.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1538634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.4481;1000g2015aug_all=0.235224;esp6500siv2_all=0.2340;ExAC_ALL=0.2876;ExAC_AFR=0.1009;ExAC_AMR=0.4883;ExAC_EAS=0.2874;ExAC_FIN=0.2723;ExAC_NFE=0.2983;ExAC_OTH=0.2665;ExAC_SAS=0.2289;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:506,0,530 1 36923494 rs12023818 G C 1010.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.006;DP=47;ExcessHet=3.0103;FS=1.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.51;ReadPosRankSum=0.651;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPS15;Func=intronic;Gene=NM_031280;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373116.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12023818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.2003;1000g2015aug_all=0.225439;esp6500siv2_all=0.2764;ExAC_ALL=0.2994;ExAC_AFR=0.1414;ExAC_AMR=0.2463;ExAC_EAS=0.0969;ExAC_FIN=0.3290;ExAC_NFE=0.3299;ExAC_OTH=0.3095;ExAC_SAS=0.4068;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,31:47:99:1039,0,391 1 36926445 rs3738839 C T 658.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.021;DP=68;ExcessHet=3.0103;FS=2.068;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.81;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPS15;Func=intronic;Gene=NM_031280;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373116.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3155;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.325;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.4568;1000g2015aug_all=0.278554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,28:68:99:687,0,1091 1 36927733 rs7065 G A 2547.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPS15;Func=exonic;Gene=NM_031280;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MRPS15:NM_031280:exon3:c.C207T:p.P69P;Gencode=Name\x3eENST00000373116.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9784;1000g2015aug_all=0.978634;esp6500siv2_all=0.9474;ExAC_ALL=0.9479;ExAC_AFR=0.9876;ExAC_AMR=0.9795;ExAC_EAS=0.9998;ExAC_FIN=0.9076;ExAC_NFE=0.9270;ExAC_OTH=0.9460;ExAC_SAS=0.9739;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2576,243,0 1 36935128 rs3917989 G A 1388.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF3R;Func=intronic;Gene=NM_000760,NM_156039,NM_172313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331941.6,ENST00000361632.8,ENST00000373103.5,ENST00000373106.5,ENST00000373104.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.339;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.2017;1000g2015aug_all=0.253594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1417,121,0 1 36937059 rs3917981 A G 2829.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF3R;Func=exonic;Gene=NM_000760,NM_156039,NM_172313;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSF3R:NM_000760:exon10:c.T1260C:p.T420T,CSF3R:NM_156039:exon10:c.T1260C:p.T420T,CSF3R:NM_172313:exon10:c.T1260C:p.T420T;Gencode=Name\x3eENST00000331941.6,ENST00000373106.5,ENST00000361632.8,ENST00000373103.5,ENST00000373104.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917981;cosmic70=.;CLNALLELEID=249885;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.736;1000g2015aug_amr=0.4006;1000g2015aug_all=0.592452;esp6500siv2_all=0.6086;ExAC_ALL=0.5648;ExAC_AFR=0.7212;ExAC_AMR=0.3853;ExAC_EAS=0.4048;ExAC_FIN=0.5994;ExAC_NFE=0.5575;ExAC_OTH=0.5662;ExAC_SAS=0.6916;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2858,196,0 1 36937065 rs3917980 A G 2811.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF3R;Func=exonic;Gene=NM_000760,NM_156039,NM_172313;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSF3R:NM_000760:exon10:c.T1254C:p.R418R,CSF3R:NM_156039:exon10:c.T1254C:p.R418R,CSF3R:NM_172313:exon10:c.T1254C:p.R418R;Gencode=Name\x3eENST00000373104.5,ENST00000331941.6,ENST00000373103.5,ENST00000361632.8,ENST00000373106.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917980;cosmic70=.;CLNALLELEID=249886;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.338;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.2003;1000g2015aug_all=0.246406;esp6500siv2_all=0.2997;ExAC_ALL=0.3156;ExAC_AFR=0.1959;ExAC_AMR=0.2494;ExAC_EAS=0.1025;ExAC_FIN=0.3341;ExAC_NFE=0.3478;ExAC_OTH=0.3172;ExAC_SAS=0.4114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2840,196,0 1 37196958 rs12123067 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_156039,NM_000831;GeneDetail=dist\x3e248043\x3bdist\x3e64170;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e843\x3bName\x3e"84350:LTR33(LTR)";avsnp150=rs12123067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.4179;1000g2015aug_all=0.400559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 37202097 rs7545247 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_156039,NM_000831;GeneDetail=dist\x3e253182\x3bdist\x3e59031;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.4193;1000g2015aug_all=0.430911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 37307281 rs553882 T G 664.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.263;DP=36;ExcessHet=3.0103;FS=7.073;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=0.255;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs553882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.1023;1000g2015aug_all=0.154353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:693,0,526 1 37307685 rs72668174 G A 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.608;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72668174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.098;1000g2015aug_all=0.141573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:240,0,222 1 37307686 rs72668175 A C 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.616;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72668175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.098;1000g2015aug_all=0.141573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:240,0,222 1 37316233 rs494070 G A 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=1.483;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs494070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0804;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.41;1000g2015aug_amr=0.1196;1000g2015aug_all=0.200879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:208,0,137 1 37333495 rs1392745 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1392745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.9107;1000g2015aug_all=0.79373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 37335085 rs574214 C A 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373091.7,ENST00000373093.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e676\x3bName\x3e"84634:MIR(SINE)";avsnp150=rs574214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8011;1000g2015aug_amr=0.9424;1000g2015aug_all=0.912141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 37335458 rs577094 A G 3217.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs577094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.9438;1000g2015aug_all=0.917532;esp6500siv2_all=0.8817;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:3246,279,0 1 37335485 rs509284 A G 2926.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373091.7,ENST00000373093.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs509284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.9438;1000g2015aug_all=0.917532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2955,205,0 1 37335494 rs577813 G T 2793.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=3.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373093.4,ENST00000373091.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs577813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.9438;1000g2015aug_all=0.917532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2822,193,0 1 37335551 rs3738085 G A 961.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=6.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373091.7,ENST00000373093.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.646;1000g2015aug_amr=0.9135;1000g2015aug_all=0.85643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:990,72,0 1 37384630 rs471710 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGRIK3;Func=intronic;Gene=NM_000831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373091.7,ENST00000373093.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs471710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.9222;1000g2015aug_all=0.915535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 37568425 rs12729978 A G 81.28 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000831,NR_036217;GeneDetail=dist\x3e68581\x3bdist\x3e58739;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e223\x3bName\x3e"85096:GA-rich(Low_complexity)";avsnp150=rs12729978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.33;1000g2015aug_all=0.25599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:109,9,0 1 37599553 rs215799 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000831,NR_036217;GeneDetail=dist\x3e99709\x3bdist\x3e27611;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.6744;1000g2015aug_all=0.80631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 37626981 rs215756 T C 939.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.26;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_036217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.8238;1000g2015aug_amr=0.6614;1000g2015aug_all=0.746406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:968,72,0 1 37737447 rs905109 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e110212\x3bdist\x3e183033;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413901.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs905109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.7305;1000g2015aug_all=0.600439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 37776675 rs12121584 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e149440\x3bdist\x3e143805;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413901.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2144\x3bName\x3e"85524:AluYk3(SINE)";avsnp150=rs12121584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7783;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.8271;1000g2015aug_all=0.697883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 37776690 rs12118290 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e149455\x3bdist\x3e143790;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413901.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2144\x3bName\x3e"85524:AluYk3(SINE)";avsnp150=rs12118290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.4856;1000g2015aug_amr=0.7767;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 37834198 rs7415724 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e206963\x3bdist\x3e86282;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e46122\x3bName\x3e"85660:HERVL-int(LTR)";avsnp150=rs7415724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3681;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.5504;1000g2015aug_all=0.397764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 37862526 rs1963693 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e235291\x3bdist\x3e57954;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2276\x3bName\x3e"85709:AluSx1(SINE)";avsnp150=rs1963693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.6542;1000g2015aug_all=0.495607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 37862550 rs1986299 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036217,NR_038842;GeneDetail=dist\x3e235315\x3bdist\x3e57930;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2276\x3bName\x3e"85709:AluSx1(SINE)";avsnp150=rs1986299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.7495;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.7752;1000g2015aug_all=0.666334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 37959450 rs215210 T C 1568.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.985;DP=127;ExcessHet=3.0103;FS=3.428;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.803;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=UTR3;Gene=NM_001270875,NM_022756;GeneDetail=NM_001270875:c.*250A>G\x3bNM_022756:c.*250A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373074.5,ENST00000373073.8,ENST00000373075.6,ENST00000296214.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.6994;1000g2015aug_eur=0.835;1000g2015aug_afr=0.4864;1000g2015aug_amr=0.8357;1000g2015aug_all=0.730431;esp6500siv2_all=.;ExAC_ALL=0.7886;ExAC_AFR=0.5756;ExAC_AMR=0.8431;ExAC_EAS=0.8811;ExAC_FIN=0.8906;ExAC_NFE=0.8340;ExAC_OTH=0.8;ExAC_SAS=0.7361;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,55:127:99:1597,0,1764 1 37959470 rs215211 C G 1213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.676;DP=110;ExcessHet=3.0103;FS=1.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.854;SOR=0.92;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=UTR3;Gene=NM_001270875,NM_022756;GeneDetail=NM_001270875:c.*230G>C\x3bNM_022756:c.*230G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296214.9,ENST00000373075.6,ENST00000373073.8,ENST00000373074.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.6994;1000g2015aug_eur=0.837;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.8415;1000g2015aug_all=0.748203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,45:110:99:1242,0,1640 1 37967649 rs41306601 C T 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.737;DP=65;ExcessHet=3.0103;FS=1.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.56;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=intronic;Gene=NM_001270875,NM_001270876,NM_022756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373074.5,ENST00000448519.2,ENST00000373075.6,ENST00000373073.8,ENST00000296214.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41306601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0315495;esp6500siv2_all=0.0666;ExAC_ALL=0.0590;ExAC_AFR=0.0159;ExAC_AMR=0.0424;ExAC_EAS=0.0001;ExAC_FIN=0.0772;ExAC_NFE=0.0811;ExAC_OTH=0.0540;ExAC_SAS=0.0222;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,25:65:99:666,0,1123 1 37967774 rs215864 C A 367.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.539;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.63;ReadPosRankSum=0.05;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=intronic;Gene=NM_001270875,NM_001270876,NM_022756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373074.5,ENST00000448519.2,ENST00000373075.6,ENST00000373073.8,ENST00000296214.9;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.837;1000g2015aug_afr=0.5257;1000g2015aug_amr=0.8429;1000g2015aug_all=0.732428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:396,0,182 1 37975279 rs215214 C T 685.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=intronic;Gene=NM_001270875,NM_001270876,NM_022756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296214.9,ENST00000373074.5,ENST00000448519.2,ENST00000373075.6,ENST00000373073.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9539;1000g2015aug_all=0.945088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:714,66,0 1 37975312 rs2036637 T C 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.76;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.653;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEAF6;Func=intronic;Gene=NM_001270875,NM_001270876,NM_022756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296214.9,ENST00000373074.5,ENST00000448519.2,ENST00000373075.6,ENST00000373073.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2036637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9613;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.834;1000g2015aug_afr=0.472;1000g2015aug_amr=0.8415;1000g2015aug_all=0.730232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:292,0,285 1 37980446 rs215873 A C 161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.162;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.163;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001270875,NM_001270876,NM_022756;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs215873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.167;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.1585;1000g2015aug_all=0.270168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:190,0,369 1 38006359 rs2174769 A G 257.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.691;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.776;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNIP1;Func=intronic;Gene=NM_024700;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296215.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2174769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.834;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.8386;1000g2015aug_all=0.722045;esp6500siv2_all=0.7238;ExAC_ALL=0.8128;ExAC_AFR=0.4732;ExAC_AMR=0.8848;ExAC_EAS=0.9639;ExAC_FIN=0.8912;ExAC_NFE=0.8452;ExAC_OTH=0.7982;ExAC_SAS=0.7271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:286,0,294 1 38022452 rs2273014 C A 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.657;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.747;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_003462;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.5562;1000g2015aug_all=0.400559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:411,0,436 1 38030696 rs6619 T C 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.908;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.459;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNALI1;Func=UTR3;Gene=NM_003462;GeneDetail=NM_003462:c.*34T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296218.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.562;1000g2015aug_all=0.410942;esp6500siv2_all=0.3755;ExAC_ALL=0.4452;ExAC_AFR=0.2423;ExAC_AMR=0.6129;ExAC_EAS=0.5627;ExAC_FIN=0.5497;ExAC_NFE=0.4527;ExAC_OTH=0.4163;ExAC_SAS=0.3234;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:218,0,252 1 38033047 rs2076519 T G 284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.635;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.142;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=intronic;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373062.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5704;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.5648;1000g2015aug_all=0.413938;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:313,0,392 1 38046920 rs2360010 G T 1087.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.992;DP=65;ExcessHet=3.0103;FS=1.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.403;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=intronic;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373062.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2360010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.838;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.8415;1000g2015aug_all=0.729433;esp6500siv2_all=.;ExAC_ALL=0.7375;ExAC_AFR=0.5684;ExAC_AMR=0.8370;ExAC_EAS=0.9545;ExAC_FIN=.;ExAC_NFE=0.7817;ExAC_OTH=0.7373;ExAC_SAS=0.7208;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,36:65:99:1116,0,796 1 38049373 rs3753372 C T 391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.932;DP=40;ExcessHet=3.0103;FS=1.316;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.712;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=intronic;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373062.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.5634;1000g2015aug_all=0.411142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,17:40:99:420,0,670 1 38049552 rs6426024 C G 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.371;DP=32;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.117;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=intronic;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373062.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.834;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.8444;1000g2015aug_all=0.730831;esp6500siv2_all=0.7320;ExAC_ALL=0.8105;ExAC_AFR=0.4994;ExAC_AMR=0.8846;ExAC_EAS=0.9639;ExAC_FIN=0.8916;ExAC_NFE=0.8422;ExAC_OTH=0.7936;ExAC_SAS=0.7148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,12:32:99:359,0,571 1 38058993 rs4652962 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=intronic;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373062.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.838;1000g2015aug_afr=0.466;1000g2015aug_amr=0.8444;1000g2015aug_all=0.735423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 38061572 rs6697632 G T 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.628;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.22;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNL2;Func=UTR5;Gene=NM_001323623,NM_001323624,NM_013285;GeneDetail=NM_001323623:c.-149C>A\x3bNM_001323624:c.-5246C>A\x3bNM_013285:c.-149C>A;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.833;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.853;1000g2015aug_all=0.755791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,10:30:99:269,0,665 1 38078300 rs4652964 A G 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.779;DP=35;ExcessHet=3.0103;FS=4.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.356;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRSPO1;Func=UTR3;Gene=NM_001038633,NM_001242908,NM_001242909,NM_001242910;GeneDetail=NM_001038633:c.*127T>C\x3bNM_001242908:c.*127T>C\x3bNM_001242909:c.*127T>C\x3bNM_001242910:c.*127T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615459.4,ENST00000356545.6,ENST00000612451.4,ENST00000401068.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"86246:(GTAT)n(Simple_repeat)";avsnp150=rs4652964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.5937;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,11:35:99:320,0,693 1 38148765 rs684260 A G 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.178;DP=35;ExcessHet=3.0103;FS=5.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.259;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf109;Func=exonic;Gene=NM_001350755,NM_001350756,NM_001350760,NM_001350761,NM_001350762,NM_001350763,NM_001350764;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H;Gencode=Name\x3eENST00000358011.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs684260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.7954;1000g2015aug_all=0.828474;esp6500siv2_all=0.7692;ExAC_ALL=0.7846;ExAC_AFR=0.8236;ExAC_AMR=0.8128;ExAC_EAS=0.9689;ExAC_FIN=0.7629;ExAC_NFE=0.7537;ExAC_OTH=0.7395;ExAC_SAS=0.7800;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:430,0,604 1 38155699 rs4653319 T G 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.589;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf109;Func=UTR5;Gene=NM_001350760,NM_001350761,NM_001350769,NM_001350770;GeneDetail=NM_001350760:c.-147A>C\x3bNM_001350761:c.-147A>C\x3bNM_001350769:c.-147A>C\x3bNM_001350770:c.-147A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358011.8,ENST00000464085.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1961\x3bName\x3e"86443:AluSx1(SINE)";avsnp150=rs4653319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.2935;1000g2015aug_amr=0.3732;1000g2015aug_all=0.371605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,170 1 38161694 rs615530 A G 635.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.478;DP=64;ExcessHet=3.0103;FS=1.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.578;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCA8;Func=intronic;Gene=NM_001256875,NM_018101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327331.2,ENST00000373055.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs615530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.5245;1000g2015aug_all=0.582468;esp6500siv2_all=0.5180;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,27:64:99:664,0,920 1 38164724 rs557290 C G 739.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.822;DP=59;ExcessHet=3.0103;FS=4.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.769;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCA8;Func=intronic;Gene=NM_001256875,NM_018101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373055.5,ENST00000327331.2;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs557290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.5058;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,27:59:99:768,0,855 1 38166022 rs513826 T C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.484;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCA8;Func=intronic;Gene=NM_001256875,NM_018101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327331.2,ENST00000373055.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs513826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.5058;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,103 1 38166327 rs661460 A T 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.348;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0.136;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCA8;Func=intronic;Gene=NM_001256875,NM_018101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327331.2,ENST00000373055.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs661460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.5058;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,20:32:99:603,0,334 1 38174185 rs557897 G T 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.864;DP=57;ExcessHet=3.0103;FS=4.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.106;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCA8;Func=UTR3;Gene=NM_001256875,NM_018101;GeneDetail=NM_001256875:c.*147G>T\x3bNM_018101:c.*147G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327331.2,ENST00000373055.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs557897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.499;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.5231;1000g2015aug_all=0.57488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,26:57:99:602,0,849 1 38182135 rs900676 C T 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA10;Func=UTR3;Gene=NM_001099439;GeneDetail=NM_001099439:c.*1909G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373048.8,ENST00000427468.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs900676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.17;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.2839;1000g2015aug_all=0.272165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 38184881 rs7533921 A C 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.816;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA10;Func=intronic;Gene=NM_001099439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427468.6,ENST00000373048.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.2781;1000g2015aug_all=0.26857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 38228797 rs499168 A T 79.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.98;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHA10;Func=intronic;Gene=NM_001099439,NM_173641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427468.6,ENST00000373048.8,ENST00000319637.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2408\x3bName\x3e"86618:MLT1D(LTR)";avsnp150=rs499168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.6354;1000g2015aug_all=0.706869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:108,15,0 1 38260733 rs72661832 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMANEAL;Func=intronic;Gene=NM_001031740,NM_001113482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397631.7,ENST00000373045.10;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72661832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.2061;1000g2015aug_all=0.203874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 38272660 rs2291297 G A 2077.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.194;DP=145;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.851;SOR=0.668;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYRDC;Func=intronic;Gene=NM_024640;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373044.2,ENST00000373043.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.2089;1000g2015aug_all=0.204673;esp6500siv2_all=0.2181;ExAC_ALL=0.2609;ExAC_AFR=0.0806;ExAC_AMR=0.2049;ExAC_EAS=0.2749;ExAC_FIN=0.3838;ExAC_NFE=0.2857;ExAC_OTH=0.2830;ExAC_SAS=0.2559;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,80:145:99:2106,0,1748 1 38289383 rs12751325 T C 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.888;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.314;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=exonic;Gene=NM_005955;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTF1:NM_005955:exon8:c.A1170G:p.T390T;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12751325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.2104;1000g2015aug_all=0.211462;esp6500siv2_all=0.2270;ExAC_ALL=0.2655;ExAC_AFR=0.1032;ExAC_AMR=0.2034;ExAC_EAS=0.2772;ExAC_FIN=0.3871;ExAC_NFE=0.2892;ExAC_OTH=0.2875;ExAC_SAS=0.2590;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,29:53:99:699,0,605 1 38293992 rs9329568 C T 220.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=intronic;Gene=NM_005955;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2385\x3bName\x3e"86774:AluSq2(SINE)";avsnp150=rs9329568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8359;1000g2015aug_amr=0.9885;1000g2015aug_all=0.955072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:249,24,0 1 38294110 rs9286096 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=intronic;Gene=NM_005955;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2385\x3bName\x3e"86774:AluSq2(SINE)";avsnp150=rs9286096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.9741;1000g2015aug_all=0.913139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 38298207 rs9729719 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=intronic;Gene=NM_005955;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1092\x3bName\x3e"86785:L1PA5(LINE)";avsnp150=rs9729719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.2161;1000g2015aug_all=0.239217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 38301250 rs3912368 A G 364.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.615;DP=17;ExcessHet=3.0103;FS=4.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=-1.107;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=intronic;Gene=NM_005955;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3912368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.295;1000g2015aug_amr=0.6023;1000g2015aug_all=0.523962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:393,0,199 1 38301476 rs3762359 G A 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.109;DP=14;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.19;SOR=3.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF1;Func=intronic;Gene=NM_005955;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373036.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.295;1000g2015aug_amr=0.598;1000g2015aug_all=0.523163;esp6500siv2_all=0.6012;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:223,0,243 1 38327982 rs3843 G T 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.976;DP=63;ExcessHet=3.0103;FS=1.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.426;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=UTR3;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=NM_001297434:c.*5C>A\x3bNM_001350227:c.*5C>A\x3bNM_001350228:c.*5C>A\x3bNM_005540:c.*5C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373026.5,ENST00000373023.6,ENST00000458109.6,ENST00000373024.7,ENST00000373027.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.6009;1000g2015aug_all=0.525559;esp6500siv2_all=0.6037;ExAC_ALL=0.6405;ExAC_AFR=0.3634;ExAC_AMR=0.5560;ExAC_EAS=0.5007;ExAC_FIN=0.7877;ExAC_NFE=0.7115;ExAC_OTH=0.6247;ExAC_SAS=0.5920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,31:63:99:832,0,928 1 38338795 rs11488569 A G 452.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.805;DP=45;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.931;SOR=0.319;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=exonic;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T;Gencode=Name\x3eENST00000373023.6,ENST00000458109.6,ENST00000373026.5,ENST00000373024.7,ENST00000373027.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11488569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.298;1000g2015aug_amr=0.5994;1000g2015aug_all=0.523562;esp6500siv2_all=0.6028;ExAC_ALL=0.6401;ExAC_AFR=0.3607;ExAC_AMR=0.5557;ExAC_EAS=0.4994;ExAC_FIN=0.7880;ExAC_NFE=0.7114;ExAC_OTH=0.6233;ExAC_SAS=0.5920;SIFT_score=0.879;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.944;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.13;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_pred=D;phyloP100way_vertebrate=2.062;phyloP20way_mammalian=-0.278;SiPhy_29way_logOdds=5.429;gerp++gt2=2.59;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,20:45:99:481,0,760 1 38341518 rs12752414 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458109.6,ENST00000373023.6,ENST00000373026.5,ENST00000373027.5,ENST00000373024.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12752414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.9885;1000g2015aug_all=0.955471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 38345896 rs2306427 A C 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.114;DP=19;ExcessHet=3.0103;FS=2.539;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.09;ReadPosRankSum=0.877;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373026.5,ENST00000458109.6,ENST00000373023.6,ENST00000373027.5,ENST00000373024.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2306427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.2995;1000g2015aug_amr=0.5951;1000g2015aug_all=0.522963;esp6500siv2_all=0.6014;ExAC_ALL=0.6410;ExAC_AFR=0.3654;ExAC_AMR=0.5550;ExAC_EAS=0.4998;ExAC_FIN=0.7884;ExAC_NFE=0.7110;ExAC_OTH=0.6239;ExAC_SAS=0.5936;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:125,0,394 1 38352849 rs2279261 G C 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.35;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.26;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458109.6,ENST00000373023.6,ENST00000373026.5,ENST00000373027.5,ENST00000373024.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.298;1000g2015aug_amr=0.5965;1000g2015aug_all=0.522564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:270,0,429 1 38397341 rs34655914 G A 607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.232;DP=65;ExcessHet=3.0103;FS=3.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.278;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_001297434,NM_001350227,NM_001350228,NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373021.1,ENST00000373024.7,ENST00000373027.5,ENST00000373026.5,ENST00000458109.6,ENST00000373023.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34655914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.084;1000g2015aug_amr=0.4366;1000g2015aug_all=0.355032;esp6500siv2_all=.;ExAC_ALL=0.5348;ExAC_AFR=0.2324;ExAC_AMR=0.5357;ExAC_EAS=0.37;ExAC_FIN=0.6422;ExAC_NFE=0.6256;ExAC_OTH=0.6203;ExAC_SAS=0.4853;SIFT_score=0.108;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.57;FATHMM_pred=T;phyloP100way_vertebrate=-1.425;phyloP20way_mammalian=-0.297;SiPhy_29way_logOdds=3.386;gerp++gt2=.;CADD=1.733;CADD_Phred=14.60;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,28:64:99:636,0,1103 1 38397369 rs35267671 C T 703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.195;DP=63;ExcessHet=3.0103;FS=0.962;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.329;SOR=0.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=exonic;Gene=NM_001297434;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=INPP5B:NM_001297434:exon1:c.G16A:p.G6S;Gencode=Name\x3eENST00000373024.7,ENST00000373027.5,ENST00000373021.1,ENST00000373023.6,ENST00000458109.6,ENST00000373026.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35267671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.084;1000g2015aug_amr=0.4366;1000g2015aug_all=0.355232;esp6500siv2_all=.;ExAC_ALL=0.5872;ExAC_AFR=0.3266;ExAC_AMR=0.5998;ExAC_EAS=0.492;ExAC_FIN=0.6610;ExAC_NFE=0.6655;ExAC_OTH=0.6303;ExAC_SAS=0.5044;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.697;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.077;Polyphen2_HVAR_pred=B;LRT_score=0.151;LRT_pred=N;MutationTaster_score=0.868;MutationTaster_pred=P;MutationAssessor_score=2.43;MutationAssessor_pred=M;FATHMM_score=-3.14;FATHMM_pred=D;phyloP100way_vertebrate=0.341;phyloP20way_mammalian=-0.080;SiPhy_29way_logOdds=1.137;gerp++gt2=.;CADD=1.127;CADD_Phred=11.36;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,28:63:99:732,0,1074 1 38409073 rs28673728 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458109.6,ENST00000373023.6,ENST00000373026.5,ENST00000373024.7,ENST00000373021.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e444\x3bName\x3e"87076:L2b(LINE)";avsnp150=rs28673728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.3746;1000g2015aug_all=0.343051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 38409103 rs28380108 G C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373021.1,ENST00000373024.7,ENST00000373026.5,ENST00000373023.6,ENST00000458109.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e444\x3bName\x3e"87076:L2b(LINE)";avsnp150=rs28380108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.3516;1000g2015aug_all=0.282149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 38411350 rs11485595 C T 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.618;DP=68;ExcessHet=3.0103;FS=3.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.449;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINPP5B;Func=intronic;Gene=NM_005540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373026.5,ENST00000458109.6,ENST00000373023.6,ENST00000373021.1,ENST00000373024.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11485595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3155;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.353;1000g2015aug_all=0.280551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,36:68:99:969,0,882 1 38423853 rs9293 G C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.61;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=UTR3;Gene=NM_001320830,NM_006802;GeneDetail=NM_001320830:c.*5C>G\x3bNM_006802:c.*5C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.93612\x3bName\x3echr11:123596744;Repeat=.;avsnp150=rs9293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9121;1000g2015aug_all=0.922125;esp6500siv2_all=0.8968;ExAC_ALL=0.8891;ExAC_AFR=0.9674;ExAC_AMR=0.9418;ExAC_EAS=0.9987;ExAC_FIN=0.9329;ExAC_NFE=0.8581;ExAC_OTH=0.8844;ExAC_SAS=0.8534;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 38425724 rs17531342 T C 1338.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17531342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9121;1000g2015aug_all=0.922923;esp6500siv2_all=0.8936;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1367,120,0 1 38425895 rs28675056 T C 1277.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28675056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9121;1000g2015aug_all=0.922923;esp6500siv2_all=0.8967;ExAC_ALL=0.8899;ExAC_AFR=0.9673;ExAC_AMR=0.9386;ExAC_EAS=0.9987;ExAC_FIN=0.9333;ExAC_NFE=0.8583;ExAC_OTH=0.8893;ExAC_SAS=0.8599;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1306,117,0 1 38426112 rs4653339 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 38434919 rs4653342 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9121;1000g2015aug_all=0.921126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 38440232 rs7519355 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2512\x3bName\x3e"87142:AluY(SINE)";avsnp150=rs7519355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 38442547 rs10890216 G A 579.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9121;1000g2015aug_all=0.921526;esp6500siv2_all=0.8952;ExAC_ALL=0.8885;ExAC_AFR=0.9623;ExAC_AMR=0.9413;ExAC_EAS=0.9987;ExAC_FIN=0.9329;ExAC_NFE=0.8580;ExAC_OTH=0.8841;ExAC_SAS=0.8531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:608,57,0 1 38444333 rs6660034 A G 643.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9121;1000g2015aug_all=0.921526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:672,51,0 1 38444749 rs7555461 T C 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.893;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=2.792;SOR=0.155;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.3964;1000g2015aug_amr=0.5072;1000g2015aug_all=0.499401;esp6500siv2_all=0.4170;ExAC_ALL=0.4620;ExAC_AFR=0.3964;ExAC_AMR=0.5521;ExAC_EAS=0.6712;ExAC_FIN=0.3896;ExAC_NFE=0.4187;ExAC_OTH=0.4779;ExAC_SAS=0.5320;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:325,0,359 1 38445393 rs7364991 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.07;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1649\x3bName\x3e"87152:AluJr(SINE)";avsnp150=rs7364991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 38447615 rs7533079 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.902;1000g2015aug_all=0.905551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 38449910 rs11210870 T C 303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.94;DP=32;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.48;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=exonic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SF3A3:NM_001320830:exon4:c.A240G:p.E80E,SF3A3:NM_006802:exon6:c.A399G:p.E133E;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.3703;1000g2015aug_all=0.292931;esp6500siv2_all=0.2794;ExAC_ALL=0.3370;ExAC_AFR=0.2739;ExAC_AMR=0.4529;ExAC_EAS=0.2764;ExAC_FIN=0.2771;ExAC_NFE=0.3229;ExAC_OTH=0.3732;ExAC_SAS=0.4036;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,13:32:99:332,0,475 1 38450367 rs6680796 A G 450.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.04;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9107;1000g2015aug_all=0.923323;esp6500siv2_all=0.8969;ExAC_ALL=0.8900;ExAC_AFR=0.9674;ExAC_AMR=0.9417;ExAC_EAS=0.9985;ExAC_FIN=0.9332;ExAC_NFE=0.8583;ExAC_OTH=0.8863;ExAC_SAS=0.8593;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:479,54,0 1 38452581 rs12138115 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1449\x3bName\x3e"87167:ERV3-16A3_LTR(LTR)";avsnp150=rs12138115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.5235;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.5058;1000g2015aug_all=0.499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 38453576 rs10890285 A C 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.603;DP=47;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-1.182;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.3775;1000g2015aug_all=0.369409;esp6500siv2_all=0.3057;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:699,0,628 1 38455389 rs3935867 C T 1834.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSF3A3;Func=intronic;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3935867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.8977;1000g2015aug_all=0.904353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1863,162,0 1 38455891 rs4360494 G C 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=0.534;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001320830,NM_006802;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373019.4;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4360494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.4481;1000g2015aug_all=0.376597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:355,0,280 1 38462898 rs4274021 T A 3993.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.5;SOR=0.715;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHL3;Func=UTR3;Gene=NM_001243878,NM_004468;GeneDetail=NM_001243878:c.*179A>T\x3bNM_004468:c.*179A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373016.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4274021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.9683;1000g2015aug_all=0.936102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:4022,280,0 1 38462905 rs12724533 C G 4007.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHL3;Func=UTR3;Gene=NM_001243878,NM_004468;GeneDetail=NM_001243878:c.*172G>C\x3bNM_004468:c.*172G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373016.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12724533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.9683;1000g2015aug_all=0.937101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:4036,280,0 1 38463504 rs7366048 C T 2080.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.134;DP=161;ExcessHet=3.0103;FS=1.247;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.967;SOR=0.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHL3;Func=exonic;Gene=NM_001243878,NM_004468;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FHL3:NM_001243878:exon4:c.G216A:p.P72P,FHL3:NM_004468:exon5:c.G540A:p.P180P;Gencode=Name\x3eENST00000373016.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7366048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6756;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.5202;1000g2015aug_all=0.575679;esp6500siv2_all=0.4975;ExAC_ALL=0.4748;ExAC_AFR=0.6475;ExAC_AMR=0.5558;ExAC_EAS=0.6674;ExAC_FIN=0.3759;ExAC_NFE=0.4083;ExAC_OTH=0.4713;ExAC_SAS=0.5167;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:89,72:161:99:2109,0,2687 1 38464639 rs4570384 C G 4523.77 PASS AC=2;AF=1;AN=2;DP=134;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFHL3;Func=intronic;Gene=NM_001243878,NM_004468;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373016.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4570384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=0.9982;ExAC_ALL=0.9995;ExAC_AFR=0.9939;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,134:134:99:4552,402,0 1 38472100 rs34404566 A G 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001243878,NM_004468;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"87212:GA-rich(Low_complexity)";avsnp150=rs34404566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.6556;1000g2015aug_all=0.674121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 1 38587171 rs1466424 G C 31.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037432,NR_038928;GeneDetail=dist\x3e32170\x3bdist\x3e87535;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1466424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.8401;1000g2015aug_all=0.824681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:59,6,0 1 38643395 . A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_037432,NR_038928;GeneDetail=dist\x3e88394\x3bdist\x3e31311;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 38737005 rs4970581 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038928,NR_146761;GeneDetail=dist\x3e56566\x3bdist\x3e203863;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"87786:(CTGCT)n(Simple_repeat)";avsnp150=rs4970581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.5432;1000g2015aug_all=0.510783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 38795252 rs1891850 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038928,NR_146761;GeneDetail=dist\x3e114813\x3bdist\x3e145616;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.3746;1000g2015aug_all=0.411741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 38808718 rs2637873 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038928,NR_146761;GeneDetail=dist\x3e128279\x3bdist\x3e132150;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2300\x3bName\x3e"87943:AluSc(SINE)";avsnp150=rs2637873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.5092;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.3963;1000g2015aug_all=0.427117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 39074910 rs80142891 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146761,NM_001271851;GeneDetail=dist\x3e132754\x3bdist\x3e228959;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4863\x3bName\x3e"88523:LTR1C(LTR)";avsnp150=rs80142891;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0215655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 39122502 rs11211084 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146761,NM_001271851;GeneDetail=dist\x3e180346\x3bdist\x3e181367;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.409;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.2392;1000g2015aug_all=0.355032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 39237309 rs603291 C G 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146761,NM_001271851;GeneDetail=dist\x3e295153\x3bdist\x3e66560;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e292\x3bName\x3e"88866:L2c(LINE)";avsnp150=rs603291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8654;1000g2015aug_amr=0.9813;1000g2015aug_all=0.961861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 39244864 rs4333821 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146761,NM_001271851;GeneDetail=dist\x3e302708\x3bdist\x3e59005;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2439\x3bName\x3e"88885:AluY(SINE)";avsnp150=rs4333821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.8588;1000g2015aug_all=0.841653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 39305403 rs17499125 C T 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.818;DP=35;ExcessHet=3.0103;FS=1.491;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=2.221;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRAGC;Func=intronic;Gene=NM_001271851,NM_022157;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000373001.3,ENST00000622355.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17499125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1066;1000g2015aug_all=0.102037;esp6500siv2_all=0.1518;ExAC_ALL=0.1720;ExAC_AFR=0.0375;ExAC_AMR=0.1205;ExAC_EAS=0.1256;ExAC_FIN=0.2125;ExAC_NFE=0.2237;ExAC_OTH=0.1892;ExAC_SAS=0.0907;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:578,0,336 1 39325063 rs1925678 T C 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.255;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRAGC;Func=intronic;Gene=NM_001271851,NM_022157;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622355.1,ENST00000373001.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.666;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.5922;1000g2015aug_all=0.418131;esp6500siv2_all=.;ExAC_ALL=0.4998;ExAC_AFR=0.2479;ExAC_AMR=0.6033;ExAC_EAS=0.4076;ExAC_FIN=0.6875;ExAC_NFE=0.6502;ExAC_OTH=0.5753;ExAC_SAS=0.4371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:252,0,252 1 39330399 rs3828041 G A 631.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.562;DP=47;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.768;SOR=0.629;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYCBP,GJA9-MYCBP;Func=ncRNA_intronic;Gene=NR_037633,NR_037634,NR_037635,NR_037636,NR_037637;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494695.4,ENST00000456813.1,ENST00000433671.2,ENST00000397572.4,ENST00000621281.1,ENST00000622355.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1066;1000g2015aug_all=0.101837;esp6500siv2_all=0.1499;ExAC_ALL=0.1698;ExAC_AFR=0.0372;ExAC_AMR=0.1203;ExAC_EAS=0.1244;ExAC_FIN=0.2120;ExAC_NFE=0.2200;ExAC_OTH=0.1872;ExAC_SAS=0.0902;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,25:47:99:660,0,608 1 39330580 rs2147913 T C 315.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYCBP,GJA9-MYCBP;Func=ncRNA_intronic;Gene=NR_037633,NR_037634,NR_037635,NR_037636,NR_037637;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397572.4,ENST00000621281.1,ENST00000622355.1,ENST00000494695.4,ENST00000456813.1,ENST00000433671.2;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2147913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9135;1000g2015aug_all=0.88139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:344,27,0 1 39339256 rs2296456 G A 207.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.228;DP=22;ExcessHet=3.0103;FS=10.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.103;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA9-MYCBP;Func=ncRNA_intronic;Gene=NR_037633,NR_037634,NR_037635,NR_037636,NR_037637,NR_135048;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397572.4,ENST00000622355.1,ENST00000621281.1,ENST00000456813.1,ENST00000433671.2;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0821;1000g2015aug_all=0.0870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:236,0,519 1 39340002 rs66539868 A T 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA9,GJA9-MYCBP;Func=ncRNA_exonic;Gene=NR_037633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621281.1,ENST00000622355.1,ENST00000433671.2,ENST00000456813.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66539868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.183;1000g2015aug_all=0.194489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 39340862 rs874243 A G 985.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.244;DP=71;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.393;SOR=0.466;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJA9-MYCBP,GJA9;Func=exonic;Gene=NM_030772;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GJA9:NM_030772:exon2:c.T909C:p.S303S;Gencode=Name\x3eENST00000621281.1,ENST00000357771.4,ENST00000433671.2,ENST00000456813.1,ENST00000360786.3;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs874243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1167;1000g2015aug_all=0.103634;esp6500siv2_all=0.1548;ExAC_ALL=0.1721;ExAC_AFR=0.0386;ExAC_AMR=0.1217;ExAC_EAS=0.1237;ExAC_FIN=0.2265;ExAC_NFE=0.2227;ExAC_OTH=0.1887;ExAC_SAS=0.0891;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,39:71:99:1014,0,885 1 39351659 rs9439088 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBDL2;Func=UTR3;Gene=NM_001304746,NM_017821;GeneDetail=NM_001304746:c.*517C>T\x3bNM_017821:c.*517C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372990.5,ENST00000433671.2;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2406\x3bName\x3e"89113:AluSx(SINE)";avsnp150=rs9439088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.7689;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9179;1000g2015aug_all=0.874401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 39361425 rs4532801 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBDL2;Func=intronic;Gene=NM_001304746,NM_017821;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289248.6,ENST00000433671.2,ENST00000372990.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2039\x3bName\x3e"89142:AluJb(SINE)";avsnp150=rs4532801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.67;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.6009;1000g2015aug_all=0.436701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 39361569 rs12085567 G A 369.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.557;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.678;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBDL2;Func=intronic;Gene=NM_001304746,NM_017821;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372990.5,ENST00000289248.6,ENST00000433671.2;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12085567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.121;1000g2015aug_all=0.125799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:398,0,344 1 39381448 rs35338149 G A 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.693;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.511;SOR=0.155;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBDL2;Func=intronic;Gene=NM_001304746,NM_017821;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289248.6,ENST00000433671.2,ENST00000372990.5,ENST00000540558.1;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35338149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0409;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0363419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:291,0,359 1 39385086 rs7522863 A C 1200.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=1.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBDL2;Func=intronic;Gene=NM_001304746,NM_017821;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289248.6,ENST00000540558.1,ENST00000372990.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.864;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.9035;1000g2015aug_all=0.844249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1229,105,0 1 39466626 rs11205525 A G 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.666;DP=25;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.055;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKIRIN1;Func=intronic;Gene=NM_001136275,NM_024595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446189.6,ENST00000432648.7,ENST00000372984.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.2406;1000g2015aug_all=0.225439;esp6500siv2_all=0.3495;ExAC_ALL=0.3253;ExAC_AFR=0.2760;ExAC_AMR=0.1919;ExAC_EAS=0.1213;ExAC_FIN=0.4513;ExAC_NFE=0.4068;ExAC_OTH=0.3395;ExAC_SAS=0.1522;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:309,0,415 1 39466786 rs10888613 C G 902.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.571;DP=60;ExcessHet=3.0103;FS=2.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.016;SOR=0.566;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKIRIN1;Func=intronic;Gene=NM_001136275,NM_024595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372984.8,ENST00000446189.6,ENST00000432648.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.2406;1000g2015aug_all=0.225439;esp6500siv2_all=0.3495;ExAC_ALL=0.3214;ExAC_AFR=0.2758;ExAC_AMR=0.1922;ExAC_EAS=0.1210;ExAC_FIN=0.4512;ExAC_NFE=0.4049;ExAC_OTH=0.3307;ExAC_SAS=0.1426;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,33:58:99:931,0,631 1 39468805 rs4147754 C A 299.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKIRIN1;Func=intronic;Gene=NM_001136275,NM_024595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372984.8,ENST00000446189.6,ENST00000432648.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.454;1000g2015aug_eur=0.839;1000g2015aug_afr=0.5575;1000g2015aug_amr=0.6398;1000g2015aug_all=0.573482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:328,27,0 1 39494687 rs3768323 G A 1226.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.43;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNDUFS5;Func=intronic;Gene=NM_001184979,NM_004552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372967.3,ENST00000372969.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2236\x3bName\x3e"89599:AluSq10(SINE)";avsnp150=rs3768323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.833;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.6196;1000g2015aug_all=0.539736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:99:1255,99,0 1 39494760 rs3768322 G A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.68;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNDUFS5;Func=intronic;Gene=NM_001184979,NM_004552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372967.3,ENST00000372969.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2236\x3bName\x3e"89599:AluSq10(SINE)";avsnp150=rs3768322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.833;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.6196;1000g2015aug_all=0.539936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 39549983 rs3736890 G A 3582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.007;DP=233;ExcessHet=3.0103;FS=2.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.31;SOR=0.537;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=exonic;Gene=NM_012090;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MACF1:NM_012090:exon1:c.G93A:p.S31S;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000372915.7,ENST00000602421.5,ENST00000484793.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.111;1000g2015aug_all=0.0982428;esp6500siv2_all=0.1492;ExAC_ALL=0.1528;ExAC_AFR=0.0680;ExAC_AMR=0.0790;ExAC_EAS=0.0612;ExAC_FIN=0.2351;ExAC_NFE=0.1960;ExAC_OTH=0.1700;ExAC_SAS=0.0975;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:102,130:232:99:3611,0,2444 1 39550210 rs260972 C T 738.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000484793.5,ENST00000602421.5,ENST00000372915.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs260972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.9323;1000g2015aug_all=0.833466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:767,60,0 1 39568249 rs6667815 A G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000372915.7,ENST00000602421.5,ENST00000484793.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.2695;1000g2015aug_all=0.347045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 39571211 rs13374459 T C 200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.099;DP=21;ExcessHet=3.0103;FS=2.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.672;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372915.7,ENST00000361689.6,ENST00000567887.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13374459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.5734;1000g2015aug_amr=0.3588;1000g2015aug_all=0.35603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:229,0,488 1 39594127 rs6600287 T C 83.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372915.7,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2340\x3bName\x3e"89923:AluY(SINE)";avsnp150=rs6600287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.9885;1000g2015aug_all=0.973043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:111,9,0 1 39696647 rs2490951 G A 346.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000372915.7,ENST00000564288.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2490951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.9784;1000g2015aug_all=0.95647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:375,27,0 1 39717566 rs2490948 T C 1035.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000564288.5,ENST00000372915.7,ENST00000289890.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2490948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.9784;1000g2015aug_all=0.957268;esp6500siv2_all=.;ExAC_ALL=0.9905;ExAC_AFR=0.9216;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.9863;ExAC_OTH=1;ExAC_SAS=0.9934;SIFT_score=0.835;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_pred=T;phyloP100way_vertebrate=1.759;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=10.231;gerp++gt2=5.92;CADD=2.422;CADD_Phred=18.96;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1064,102,0 1 39748921 rs2275188 G A 2234.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=exonic;Gene=NM_012090;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MACF1:NM_012090:exon7:c.G771A:p.Q257Q;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000372915.7,ENST00000564288.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.6657;1000g2015aug_all=0.59405;esp6500siv2_all=0.5778;ExAC_ALL=0.6818;ExAC_AFR=0.3383;ExAC_AMR=0.7069;ExAC_EAS=0.6356;ExAC_FIN=0.7455;ExAC_NFE=0.7035;ExAC_OTH=0.6998;ExAC_SAS=0.7906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2263,198,0 1 39757595 rs139794027 G A 1059.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.607;DP=83;ExcessHet=3.0103;FS=1.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.889;SOR=0.47;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=exonic;Gene=NM_012090;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MACF1:NM_012090:exon15:c.G1814A:p.R605Q;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000564288.5,ENST00000372915.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139794027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0021;ExAC_ALL=0.0020;ExAC_AFR=0.0008;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0130;ExAC_NFE=0.0019;ExAC_OTH=0.0066;ExAC_SAS=0;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.898;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.098;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.19;FATHMM_pred=D;phyloP100way_vertebrate=6.605;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=15.055;gerp++gt2=5.91;CADD=5.552;CADD_Phred=26.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,37:83:99:1088,0,1464 1 39758993 rs6688708 C G 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372915.7,ENST00000564288.5,ENST00000361689.6,ENST00000567887.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.6801;1000g2015aug_all=0.651558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 39763242 rs2275187 G A 2443.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000564288.5,ENST00000372915.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.27;1000g2015aug_amr=0.6671;1000g2015aug_all=0.583866;esp6500siv2_all=0.5773;ExAC_ALL=0.6776;ExAC_AFR=0.3373;ExAC_AMR=0.7067;ExAC_EAS=0.5777;ExAC_FIN=0.7460;ExAC_NFE=0.7039;ExAC_OTH=0.6947;ExAC_SAS=0.7895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2472,219,0 1 39766055 rs2275186 C T 2726.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.66;SOR=1.952;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000564288.5,ENST00000372915.7,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.6671;1000g2015aug_all=0.598842;esp6500siv2_all=0.5777;ExAC_ALL=0.6917;ExAC_AFR=0.3511;ExAC_AMR=0.7176;ExAC_EAS=0.6598;ExAC_FIN=0.7491;ExAC_NFE=0.7111;ExAC_OTH=0.7166;ExAC_SAS=0.7944;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2755,243,0 1 39802381 rs112936798 A C 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.282;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000564288.5,ENST00000372915.7,ENST00000289893.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112936798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00758786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:139,0,143 1 39806610 rs3116396 C T 852.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000564288.5,ENST00000372915.7,ENST00000289893.8,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3116396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8918;1000g2015aug_amr=0.9827;1000g2015aug_all=0.955272;esp6500siv2_all=0.9644;ExAC_ALL=0.9838;ExAC_AFR=0.9154;ExAC_AMR=0.9932;ExAC_EAS=0.9348;ExAC_FIN=0.9985;ExAC_NFE=0.9951;ExAC_OTH=0.9780;ExAC_SAS=0.9950;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:881,78,0 1 39812434 rs2490943 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000564288.5,ENST00000372915.7,ENST00000289893.8,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2525\x3bName\x3e"90399:AluY(SINE)";avsnp150=rs2490943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.267;1000g2015aug_amr=0.6671;1000g2015aug_all=0.585663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 39812620 rs2490944 G T 1359.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.891;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000564288.5,ENST00000372915.7,ENST00000289893.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2490944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.996;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9827;1000g2015aug_all=0.954273;esp6500siv2_all=0.9634;ExAC_ALL=0.9836;ExAC_AFR=0.9114;ExAC_AMR=0.9934;ExAC_EAS=0.9352;ExAC_FIN=0.9985;ExAC_NFE=0.9951;ExAC_OTH=0.9779;ExAC_SAS=0.9948;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1388,116,0 1 39812822 rs2761764 C A 4660.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289893.8,ENST00000564288.5,ENST00000372915.7,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2761764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.996;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9827;1000g2015aug_all=0.954273;esp6500siv2_all=0.9634;ExAC_ALL=0.9836;ExAC_AFR=0.9124;ExAC_AMR=0.9933;ExAC_EAS=0.9354;ExAC_FIN=0.9985;ExAC_NFE=0.9951;ExAC_OTH=0.9780;ExAC_SAS=0.9949;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:4689,437,0 1 39818786 rs148218605 A C 1274.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.401;DP=121;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.333;SOR=0.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=exonic;Gene=NM_012090;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MACF1:NM_012090:exon38:c.A5121C:p.P1707P;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000289893.8,ENST00000564288.5,ENST00000372915.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148218605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0004;ExAC_ALL=0.0003;ExAC_AFR=9.614e-05;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,50:120:99:1303,0,1673 1 39844708 rs660293 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000289893.8,ENST00000372915.7,ENST00000564288.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs660293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.591;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.6585;1000g2015aug_all=0.760184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 39894839 rs645061 A G 308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.669;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289893.8,ENST00000372915.7,ENST00000564288.5,ENST00000567887.5,ENST00000361689.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs645061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.59;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.6599;1000g2015aug_all=0.749002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,9:13:99:337,0,128 1 39914363 rs668556 G C 759.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.45;DP=54;ExcessHet=3.0103;FS=1.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.39;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=exonic;Gene=NM_012090;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MACF1:NM_012090:exon79:c.G14009C:p.S4670T;Gencode=Name\x3eENST00000361689.6,ENST00000567887.5,ENST00000289893.8,ENST00000372915.7,ENST00000564288.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs668556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.4784;1000g2015aug_all=0.521965;esp6500siv2_all=0.6448;ExAC_ALL=0.5382;ExAC_AFR=0.7817;ExAC_AMR=0.4168;ExAC_EAS=0.3489;ExAC_FIN=0.5991;ExAC_NFE=0.5853;ExAC_OTH=0.5253;ExAC_SAS=0.3550;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.68;FATHMM_pred=T;phyloP100way_vertebrate=0.791;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=8.140;gerp++gt2=5.26;CADD=0.943;CADD_Phred=10.33;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,26:54:99:788,0,700 1 39927507 rs783820 G A 614.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.09;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289893.8,ENST00000372915.7,ENST00000564288.5,ENST00000361689.6,ENST00000567887.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs783820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9233;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.9625;1000g2015aug_all=0.942093;esp6500siv2_all=0.9410;ExAC_ALL=0.9586;ExAC_AFR=0.8998;ExAC_AMR=0.9785;ExAC_EAS=0.9998;ExAC_FIN=0.9579;ExAC_NFE=0.9626;ExAC_OTH=0.9565;ExAC_SAS=0.9427;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:643,51,0 1 39929240 rs7554206 T C 1480.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=2.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000564288.5,ENST00000372915.7,ENST00000289893.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.6916;1000g2015aug_all=0.672324;esp6500siv2_all=0.6471;ExAC_ALL=0.7061;ExAC_AFR=0.5554;ExAC_AMR=0.7214;ExAC_EAS=0.6705;ExAC_FIN=0.7439;ExAC_NFE=0.7065;ExAC_OTH=0.7097;ExAC_SAS=0.7917;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1509,137,0 1 39945297 rs2275767 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMACF1;Func=intronic;Gene=NM_012090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567887.5,ENST00000361689.6,ENST00000564288.5,ENST00000372915.7,ENST00000289893.8;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.7924;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.5908;1000g2015aug_all=0.557708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 39957913 rs4660269 A G 3905.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.62;QD=31.75;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A;Func=exonic;Gene=NM_181809;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BMP8A:NM_181809:exon1:c.A250G:p.M84V;Gencode=Name\x3eENST00000331593.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.942961\x3bName\x3echr1:39784067;Repeat=.;avsnp150=rs4660269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.2897;1000g2015aug_amr=0.8069;1000g2015aug_all=0.672324;esp6500siv2_all=0.7903;ExAC_ALL=0.8538;ExAC_AFR=0.4502;ExAC_AMR=0.8445;ExAC_EAS=0.6773;ExAC_FIN=0.8837;ExAC_NFE=0.9070;ExAC_OTH=0.8620;ExAC_SAS=0.8864;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.016;MutationTaster_pred=P;MutationAssessor_score=2.155;MutationAssessor_pred=M;FATHMM_score=-0.1;FATHMM_pred=T;phyloP100way_vertebrate=0.929;phyloP20way_mammalian=0.895;SiPhy_29way_logOdds=7.876;gerp++gt2=3.32;CADD=1.127;CADD_Phred=11.36;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:3934,369,0 1 39958080 rs10888798 C G 2022.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.35;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A;Func=intronic;Gene=NM_181809;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331593.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.942961\x3bName\x3echr1:39784067;Repeat=.;avsnp150=rs10888798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.5893;1000g2015aug_all=0.552117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2051,168,0 1 39988034 rs15733 C T 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.403;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=52.53;MQRankSum=-3.596;QD=7.05;ReadPosRankSum=-1.042;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_exonic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417869.5,ENST00000331856.6,ENST00000331593.5,ENST00000450157.5,ENST00000458207.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs15733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3229;ExAC_AFR=0.1487;ExAC_AMR=0.3210;ExAC_EAS=0.2819;ExAC_FIN=0.3182;ExAC_NFE=0.3219;ExAC_OTH=0.3247;ExAC_SAS=0.5327;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:134,0,326 1 39988084 rs6525 G A 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.31;DP=28;ExcessHet=3.0103;FS=2.063;MLEAC=1;MLEAF=0.5;MQ=54.95;MQRankSum=-5.105;QD=3.28;ReadPosRankSum=0.505;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=exonic;Gene=NM_181809;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BMP8A:NM_181809:exon5:c.G878A:p.R293H;Gencode=Name\x3eENST00000450157.5,ENST00000458207.5,ENST00000331593.5,ENST00000331856.6,ENST00000417869.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs6525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.4724;ExAC_AFR=0.2448;ExAC_AMR=0.4871;ExAC_EAS=0.4217;ExAC_FIN=0.4492;ExAC_NFE=0.4616;ExAC_OTH=0.4713;ExAC_SAS=0.6814;SIFT_score=0.826;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.035;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=-0.96;FATHMM_pred=T;phyloP100way_vertebrate=0.021;phyloP20way_mammalian=-0.175;SiPhy_29way_logOdds=8.095;gerp++gt2=3.27;CADD=0.944;CADD_Phred=10.34;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,7:28:99:120,0,690 1 39988708 rs2889739 A G 918.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.707;DP=67;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=58.82;MQRankSum=-3.135;QD=13.71;ReadPosRankSum=0.006;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=exonic;Gene=NM_181809;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=BMP8A:NM_181809:exon6:c.A978G:p.S326S;Gencode=Name\x3eENST00000331593.5,ENST00000450157.5,ENST00000458207.5,ENST00000417869.5,ENST00000331856.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs2889739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0259585;esp6500siv2_all=0.0564;ExAC_ALL=0.0556;ExAC_AFR=0.0132;ExAC_AMR=0.0284;ExAC_EAS=0.0003;ExAC_FIN=0.0910;ExAC_NFE=0.0802;ExAC_OTH=0.0563;ExAC_SAS=0.0142;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,36:67:99:947,0,741 1 39989012 rs11584399 G A 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.385;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.18;ReadPosRankSum=-0.755;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458207.5,ENST00000450157.5,ENST00000331593.5,ENST00000417869.5,ENST00000331856.6;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs11584399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0493211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:250,0,95 1 39989186 rs710911 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.63;QD=26.05;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417869.5,ENST00000331856.6,ENST00000331593.5,ENST00000450157.5,ENST00000458207.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs710911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.9827;1000g2015aug_all=0.966054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 39989327 rs1727098 C T 620.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.748;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.932;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_exonic;Gene=NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331856.6,ENST00000417869.5,ENST00000331593.5,ENST00000458207.5,ENST00000450157.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs1727098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.549;1000g2015aug_all=0.516973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,29:43:99:649,0,320 1 39991474 rs11583829 A C 1674.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.556;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.97;MQRankSum=-2.03;QD=21.75;ReadPosRankSum=0.6;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417869.5,ENST00000331593.5,ENST00000458207.5,ENST00000450157.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs11583829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.072;1000g2015aug_all=0.091853;esp6500siv2_all=0.0194;ExAC_ALL=0.1372;ExAC_AFR=0.0831;ExAC_AMR=0.0660;ExAC_EAS=0.0124;ExAC_FIN=0.2072;ExAC_NFE=0.1787;ExAC_OTH=0.1512;ExAC_SAS=0.0900;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,43:77:99:1703,0,1795 1 39991475 rs2230006 G A 1674.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.639;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.97;MQRankSum=-2.03;QD=21.75;ReadPosRankSum=0.57;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417869.5,ENST00000331593.5,ENST00000450157.5,ENST00000458207.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39760348;Repeat=.;avsnp150=rs2230006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.072;1000g2015aug_all=0.0916534;esp6500siv2_all=.;ExAC_ALL=0.1370;ExAC_AFR=0.0829;ExAC_AMR=0.0660;ExAC_EAS=0.0124;ExAC_FIN=0.2074;ExAC_NFE=0.1785;ExAC_OTH=0.1512;ExAC_SAS=0.0899;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,43:77:99:1703,0,1795 1 39991588 rs3738676 G T 450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.301;DP=34;ExcessHet=3.0103;FS=8.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.781;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8A,PPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417869.5,ENST00000331593.5,ENST00000458207.5,ENST00000450157.5;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.3601;1000g2015aug_amr=0.3617;1000g2015aug_all=0.338658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:479,0,542 1 40011645 rs1180330 A G 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIEL;Func=ncRNA_intronic;Gene=NR_003929,NR_144354,NR_144355,NR_144356,NR_144357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1180330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9821;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.8862;1000g2015aug_all=0.798323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 40027094 rs61781366 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePABPC4;Func=intronic;Gene=NM_001135653,NM_001135654,NM_003819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372862.7,ENST00000372856.7,ENST00000372857.7,ENST00000372858.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61781366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 40030823 rs12127094 C T 1270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.203;DP=105;ExcessHet=3.0103;FS=1.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.623;SOR=0.51;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePABPC4,LOC101929516;Func=exonic;Gene=NM_001135653,NM_001135654,NM_003819;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PABPC4:NM_001135653:exon8:c.G1200A:p.Q400Q,PABPC4:NM_001135654:exon8:c.G1200A:p.Q400Q,PABPC4:NM_003819:exon8:c.G1200A:p.Q400Q;Gencode=Name\x3eENST00000372862.7,ENST00000372857.7,ENST00000372856.7,ENST00000372858.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0373403;esp6500siv2_all=0.0653;ExAC_ALL=0.0625;ExAC_AFR=0.0152;ExAC_AMR=0.0322;ExAC_EAS=0.0066;ExAC_FIN=0.0919;ExAC_NFE=0.0891;ExAC_OTH=0.0584;ExAC_SAS=0.0239;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,49:105:99:1299,0,1539 1 40041757 rs111447240 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.718;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePABPC4;Func=UTR5;Gene=NM_001135653,NM_001135654,NM_003819;GeneDetail=NM_001135653:c.-134C>T\x3bNM_001135654:c.-134C>T\x3bNM_003819:c.-134C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372857.7,ENST00000372856.7,ENST00000372862.7,ENST00000372858.7;cytoBand=1p34.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111447240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0371406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 40092089 rs2695320 T C 1827.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEYL;Func=UTR3;Gene=NM_014571;GeneDetail=NM_014571:c.*90A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372852.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2695320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.8888;1000g2015aug_amr=0.9712;1000g2015aug_all=0.953874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1856,162,0 1 40098054 rs58043961 G A 685.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.33;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEYL;Func=intronic;Gene=NM_014571;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372852.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e709\x3bName\x3e"91033:MIR(SINE)";avsnp150=rs58043961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.3404;1000g2015aug_amr=0.2464;1000g2015aug_all=0.213259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:714,54,0 1 40098328 rs784625 T C 4903.77 PASS AC=2;AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEYL;Func=exonic;Gene=NM_014571;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEYL:NM_014571:exon2:c.A140G:p.H47R;Gencode=Name\x3eENST00000372852.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs784625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.9891;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.989217;esp6500siv2_all=0.9925;ExAC_ALL=0.9887;ExAC_AFR=0.9981;ExAC_AMR=0.9969;ExAC_EAS=0.9999;ExAC_FIN=0.9979;ExAC_NFE=0.9894;ExAC_OTH=0.9912;ExAC_SAS=0.9646;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.73;MutationAssessor_pred=N;FATHMM_score=-4.55;FATHMM_pred=D;phyloP100way_vertebrate=5.048;phyloP20way_mammalian=0.022;SiPhy_29way_logOdds=8.261;gerp++gt2=4.16;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,155:155:99:4932,464,0 1 40131089 rs734497 G T 712.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.067;DP=39;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.28;ReadPosRankSum=-1.17;SOR=1.489;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNT5C1A;Func=intronic;Gene=NM_032526;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235628.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs734497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.169;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0793;1000g2015aug_all=0.0916534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:741,0,554 1 40142295 rs784627 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032526,NM_016257;GeneDetail=dist\x3e4585\x3bdist\x3e2025;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e191\x3bName\x3e"91139:L2c(LINE)";avsnp150=rs784627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9294;1000g2015aug_all=0.948682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 40149515 rs784633 A G 878.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=intronic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612703.3,ENST00000617690.2,ENST00000372844.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs784633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.825;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.8256;1000g2015aug_all=0.85623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:907,66,0 1 40149642 rs784634 G T 2845.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.259;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=exonic;Gene=NM_001282396,NM_016257;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HPCAL4:NM_016257:exon3:c.C345A:p.R115R,HPCAL4:NM_001282396:exon4:c.C345A:p.R115R;Gencode=Name\x3eENST00000372844.7,ENST00000617690.2,ENST00000612703.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs784634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.825;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.8256;1000g2015aug_all=0.85623;esp6500siv2_all=0.8300;ExAC_ALL=0.8273;ExAC_AFR=0.8829;ExAC_AMR=0.8376;ExAC_EAS=0.7934;ExAC_FIN=0.8243;ExAC_NFE=0.8091;ExAC_OTH=0.8532;ExAC_SAS=0.8760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2874,258,0 1 40149870 rs113763288 C G 936.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.82;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=intronic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372844.7,ENST00000612703.3,ENST00000617690.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113763288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.825;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.8256;1000g2015aug_all=0.85643;esp6500siv2_all=0.8541;ExAC_ALL=0.8524;ExAC_AFR=0.9003;ExAC_AMR=0.8605;ExAC_EAS=0.8202;ExAC_FIN=0.8589;ExAC_NFE=0.8351;ExAC_OTH=0.875;ExAC_SAS=0.8840;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:71:965,71,0 1 40149875 rs113459798 C T 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.076;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=1.119;SOR=0.191;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=intronic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617690.2,ENST00000612703.3,ENST00000372844.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113459798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.2406;1000g2015aug_all=0.35603;esp6500siv2_all=0.4343;ExAC_ALL=0.4693;ExAC_AFR=0.6291;ExAC_AMR=0.3797;ExAC_EAS=0.4221;ExAC_FIN=0.5575;ExAC_NFE=0.4640;ExAC_OTH=0.4843;ExAC_SAS=0.4499;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:376,0,347 1 40149971 rs9662102 G A 31.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-0.328;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=intronic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372844.7,ENST00000617690.2,ENST00000612703.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9662102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5922;1000g2015aug_all=0.522963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:60:60,0,146 1 40150156 rs9662128 G A 709.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.305;DP=34;ExcessHet=3.0103;FS=1.599;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.586;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=exonic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HPCAL4:NM_001282397:exon2:c.C120T:p.S40S,HPCAL4:NM_016257:exon2:c.C120T:p.S40S,HPCAL4:NM_001282396:exon3:c.C120T:p.S40S;Gencode=Name\x3eENST00000617690.2,ENST00000612703.3,ENST00000372844.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9662128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.2406;1000g2015aug_all=0.355831;esp6500siv2_all=0.3747;ExAC_ALL=0.3393;ExAC_AFR=0.4630;ExAC_AMR=0.2150;ExAC_EAS=0.2844;ExAC_FIN=0.3639;ExAC_NFE=0.3310;ExAC_OTH=0.3470;ExAC_SAS=0.4014;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,25:34:99:738,0,239 1 40150370 rs2746058 C T 662.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=2.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHPCAL4;Func=intronic;Gene=NM_001282396,NM_001282397,NM_016257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372844.7,ENST00000612703.3,ENST00000617690.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2746058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.8256;1000g2015aug_all=0.85603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:691,57,0 1 40235331 rs1050918 C T 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.562;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.96;MQRankSum=-4.159;QD=2.89;ReadPosRankSum=0.564;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8B,OXCT2;Func=UTR3;Gene=NM_022120;GeneDetail=NM_022120:c.*43G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327582.5,ENST00000397360.2,ENST00000372827.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39509526;Repeat=.;avsnp150=rs1050918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0263;ExAC_AFR=0.0374;ExAC_AMR=0.0282;ExAC_EAS=0.0348;ExAC_FIN=0.0108;ExAC_NFE=0.0252;ExAC_OTH=0.0312;ExAC_SAS=0.0155;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,7:30:99:115,0,782 1 40235489 rs1050917 T C 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=172;ExcessHet=3.0103;FS=12.856;MLEAC=1;MLEAF=0.5;MQ=54.59;MQRankSum=-9.79;QD=2.17;ReadPosRankSum=-2.153;SOR=1.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBMP8B,OXCT2;Func=exonic;Gene=NM_022120;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OXCT2:NM_022120:exon1:c.A1439G:p.E480G;Gencode=Name\x3eENST00000397360.2,ENST00000372827.7,ENST00000327582.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.979081\x3bName\x3echr1:39509526;Repeat=.;avsnp150=rs1050917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0220;ExAC_AFR=0.0317;ExAC_AMR=0.0070;ExAC_EAS=0.0592;ExAC_FIN=0.0296;ExAC_NFE=0.0182;ExAC_OTH=0.0199;ExAC_SAS=0.0204;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-3.085;MutationAssessor_pred=N;FATHMM_score=-2.82;FATHMM_pred=D;phyloP100way_vertebrate=1.537;phyloP20way_mammalian=-0.617;SiPhy_29way_logOdds=4.871;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:139,33:172:99:401,0,3902 1 40284053 rs35131799 A G 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135805,NM_001312692;GeneDetail=dist\x3e28211\x3bdist\x3e22650;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35131799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.112;1000g2015aug_amr=0.4568;1000g2015aug_all=0.305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 40363054 rs3134614 G C 1209.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.02;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYCL;Func=exonic;Gene=NM_001033081,NM_001033082;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S;Gencode=Name\x3eENST00000397332.2,ENST00000372816.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3134614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9035;1000g2015aug_all=0.935703;esp6500siv2_all=0.9037;ExAC_ALL=0.8865;ExAC_AFR=0.9776;ExAC_AMR=0.8654;ExAC_EAS=0.9994;ExAC_FIN=0.8916;ExAC_NFE=0.8718;ExAC_OTH=0.8756;ExAC_SAS=0.8384;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.77;MutationAssessor_pred=N;FATHMM_score=-0.9;FATHMM_pred=T;phyloP100way_vertebrate=2.284;phyloP20way_mammalian=0.012;SiPhy_29way_logOdds=5.637;gerp++gt2=4.53;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1238,102,0 1 40367592 rs804719 A G 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYCL;Func=UTR5;Gene=NM_001033081,NM_001033082,NM_005376;GeneDetail=NM_001033081:c.-486T>C\x3bNM_001033082:c.-32T>C\x3bNM_005376:c.-32T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397332.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs804719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 40392327 rs3103781 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001033082,NM_001287808;GeneDetail=dist\x3e24640\x3bdist\x3e28457;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e400\x3bName\x3e"91806:L2(LINE)";avsnp150=rs3103781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.9509;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9539;1000g2015aug_all=0.956869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 40433771 rs3103778 A G 1423.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD2A;Func=intronic;Gene=NM_001136493,NM_001287808,NM_001287809,NM_001349821,NM_001349822,NM_001349823,NM_032793;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372811.9,ENST00000420632.6,ENST00000372809.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e503\x3bName\x3e"91914:MER91A(DNA)";avsnp150=rs3103778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3ePR_interval;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.508;1000g2015aug_afr=0.2897;1000g2015aug_amr=0.5259;1000g2015aug_all=0.507588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1452,123,0 1 40526003 rs3122419 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=intronic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372805.7,ENST00000340450.7,ENST00000372802.5,ENST00000372797.7,ENST00000372792.6,ENST00000372798.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8549;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7637;1000g2015aug_all=0.848043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 40533266 rs11207440 T G 950.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=33.6;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G;Gencode=Name\x3eENST00000372797.7,ENST00000372792.6,ENST00000372798.5,ENST00000372805.7,ENST00000372802.5,ENST00000340450.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.664;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.795;MutationAssessor_pred=N;FATHMM_score=2.85;FATHMM_pred=T;phyloP100way_vertebrate=1.555;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=12.227;gerp++gt2=4.56;CADD=1.865;CADD_Phred=15.37;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:979,69,0 1 40533287 rs6665926 T G 962.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=28.08;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G;Gencode=Name\x3eENST00000372802.5,ENST00000372805.7,ENST00000340450.7,ENST00000372797.7,ENST00000372792.6,ENST00000372798.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"92220:(TCC)n(Simple_repeat)";avsnp150=rs6665926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.279;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.98;MutationAssessor_pred=N;FATHMM_score=1.62;FATHMM_pred=T;phyloP100way_vertebrate=4.552;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=12.535;gerp++gt2=4.88;CADD=1.424;CADD_Phred=12.91;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:991,69,0 1 40533315 rs6665933 T G 1546.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.97;QD=28.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T734G:p.I245S,CAP1:NM_001330502:exon8:c.T731G:p.I244S,CAP1:NM_001350476:exon8:c.T734G:p.I245S,CAP1:NM_001350477:exon8:c.T734G:p.I245S,CAP1:NM_001350479:exon8:c.T734G:p.I245S,CAP1:NM_001350480:exon8:c.T734G:p.I245S,CAP1:NM_001350481:exon8:c.T734G:p.I245S,CAP1:NM_001350482:exon8:c.T731G:p.I244S,CAP1:NM_001350483:exon8:c.T731G:p.I244S,CAP1:NM_001350485:exon8:c.T731G:p.I244S,CAP1:NM_006367:exon8:c.T734G:p.I245S,CAP1:NM_001350475:exon9:c.T734G:p.I245S,CAP1:NM_001350478:exon9:c.T734G:p.I245S,CAP1:NM_001350484:exon9:c.T731G:p.I244S;Gencode=Name\x3eENST00000372805.7,ENST00000372802.5,ENST00000340450.7,ENST00000372798.5,ENST00000372797.7,ENST00000372792.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.982;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-1.445;MutationAssessor_pred=N;FATHMM_score=2.61;FATHMM_pred=T;phyloP100way_vertebrate=1.091;phyloP20way_mammalian=-0.236;SiPhy_29way_logOdds=12.535;gerp++gt2=4.88;CADD=1.636;CADD_Phred=14.05;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1575,105,0 1 40533320 rs6665936 T G 1726.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.97;QD=25.2;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T739G:p.C247G,CAP1:NM_001330502:exon8:c.T736G:p.C246G,CAP1:NM_001350476:exon8:c.T739G:p.C247G,CAP1:NM_001350477:exon8:c.T739G:p.C247G,CAP1:NM_001350479:exon8:c.T739G:p.C247G,CAP1:NM_001350480:exon8:c.T739G:p.C247G,CAP1:NM_001350481:exon8:c.T739G:p.C247G,CAP1:NM_001350482:exon8:c.T736G:p.C246G,CAP1:NM_001350483:exon8:c.T736G:p.C246G,CAP1:NM_001350485:exon8:c.T736G:p.C246G,CAP1:NM_006367:exon8:c.T739G:p.C247G,CAP1:NM_001350475:exon9:c.T739G:p.C247G,CAP1:NM_001350478:exon9:c.T739G:p.C247G,CAP1:NM_001350484:exon9:c.T736G:p.C246G;Gencode=Name\x3eENST00000372805.7,ENST00000372802.5,ENST00000340450.7,ENST00000372798.5,ENST00000372797.7,ENST00000372792.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.576;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.014;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.775;MutationAssessor_pred=N;FATHMM_score=2.82;FATHMM_pred=T;phyloP100way_vertebrate=0.245;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=6.560;gerp++gt2=2.96;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1755,117,0 1 40533326 rs6665937 T G 1813.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.98;QD=28.36;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D;Gencode=Name\x3eENST00000372802.5,ENST00000372805.7,ENST00000340450.7,ENST00000372798.5,ENST00000372797.7,ENST00000372792.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.777;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.69;MutationAssessor_pred=N;FATHMM_score=2.8;FATHMM_pred=T;phyloP100way_vertebrate=4.954;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=12.535;gerp++gt2=4.88;CADD=1.005;CADD_Phred=10.69;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1842,123,0 1 40533347 rs6665944 T G 2111.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.98;QD=31.9;SOR=0.909;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAP1;Func=exonic;Gene=NM_001105530,NM_001330502,NM_001350475,NM_001350476,NM_001350477,NM_001350478,NM_001350479,NM_001350480,NM_001350481,NM_001350482,NM_001350483,NM_001350484,NM_001350485,NM_006367;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A;Gencode=Name\x3eENST00000372802.5,ENST00000372805.7,ENST00000340450.7,ENST00000372797.7,ENST00000372792.6,ENST00000372798.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.53;MutationAssessor_pred=N;FATHMM_score=3.07;FATHMM_pred=T;phyloP100way_vertebrate=4.929;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=8.352;gerp++gt2=4.88;CADD=1.056;CADD_Phred=10.97;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:2140,150,0 1 40545964 rs3122428 T G 844.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.614;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.08;SOR=0.6;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449045.6,ENST00000433473.7,ENST00000530076.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7843;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.6816;1000g2015aug_all=0.734225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,35:78:99:873,0,1168 1 40547906 rs3122430 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449045.6,ENST00000530076.5,ENST00000433473.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.546;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.5519;1000g2015aug_all=0.497005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 40547913 rs3131661 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530076.5,ENST00000433473.7,ENST00000449045.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3131661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.546;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.5519;1000g2015aug_all=0.497404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 40555321 rs3131651 C T 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=1.592;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433473.7,ENST00000449045.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3131651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4534;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.5231;1000g2015aug_all=0.446286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:215,0,214 1 40556922 rs3122439 T C 2643.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.759;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433473.7,ENST00000449045.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2672,243,0 1 40557656 rs6672053 G A 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.109;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=0.738;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433473.7,ENST00000449045.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.5951;1000g2015aug_all=0.621206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,16:26:99:476,0,305 1 40558256 rs4481840 C G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=intronic;Gene=NM_000310,NM_001142604;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433473.7,ENST00000449045.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3874\x3bName\x3e"92269:L1MB5(LINE)";avsnp150=rs4481840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 40562993 rs6600313 T C 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.387;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-1.406;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPT1;Func=UTR5;Gene=NM_000310,NM_001142604;GeneDetail=NM_000310:c.-83A>G\x3bNM_001142604:c.-83A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433473.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6600313;cosmic70=.;CLNALLELEID=280858;CLNDN=Neuronal_Ceroid-Lipofuscinosis,_Recessive;CLNDISDB=MedGen:CN239323;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.7824;1000g2015aug_all=0.832668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:316,0,365 1 40598775 rs4492609 T C 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.138;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001142604,NM_012421;GeneDetail=dist\x3e35633\x3bdist\x3e28266;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4492609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.2219;1000g2015aug_all=0.28734;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:215,0,211 1 40701378 rs2235985 T G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRLF;Func=intronic;Gene=NM_012421;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372771.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.046;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.1585;1000g2015aug_all=0.129792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 40705726 rs10889205 A T 1334.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRLF;Func=exonic;Gene=NM_012421;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RLF:NM_012421:exon8:c.A5352T:p.E1784D;Gencode=Name\x3eENST00000372771.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.046;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.1671;1000g2015aug_all=0.148363;esp6500siv2_all=0.2091;ExAC_ALL=0.1769;ExAC_AFR=0.2459;ExAC_AMR=0.1681;ExAC_EAS=0.0480;ExAC_FIN=0.2501;ExAC_NFE=0.2037;ExAC_OTH=0.1633;ExAC_SAS=0.0723;SIFT_score=0.624;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.076;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.43;MutationAssessor_pred=N;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=-3.302;phyloP20way_mammalian=-0.805;SiPhy_29way_logOdds=9.540;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1363,120,0 1 40711556 rs9439018 A G 262.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012421,NM_001008740;GeneDetail=dist\x3e4963\x3bdist\x3e2017;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e314\x3bName\x3e"92679:L2b(LINE)";avsnp150=rs9439018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.823;1000g2015aug_amr=0.572;1000g2015aug_all=0.669529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:291,27,0 1 40733658 rs7516571 A G 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMPSTE24;Func=intronic;Gene=NM_005857;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372759.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516571;cosmic70=.;CLNALLELEID=150203;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.1859;1000g2015aug_all=0.222644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 40736279 rs10889220 G A 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMPSTE24;Func=intronic;Gene=NM_005857;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372759.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.4914;1000g2015aug_all=0.581669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 40737516 rs6677717 T G 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMPSTE24;Func=intronic;Gene=NM_005857;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372759.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677717;cosmic70=.;CLNALLELEID=150213;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.9801;1000g2015aug_afr=1;1000g2015aug_amr=0.9971;1000g2015aug_all=0.993211;esp6500siv2_all=0.9898;ExAC_ALL=0.9859;ExAC_AFR=0.9982;ExAC_AMR=0.9980;ExAC_EAS=1;ExAC_FIN=0.9600;ExAC_NFE=0.9826;ExAC_OTH=0.9855;ExAC_SAS=0.9859;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 40761848 rs12121804 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005857,NM_001852;GeneDetail=dist\x3e1992\x3bdist\x3e4315;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.267;1000g2015aug_amr=0.1816;1000g2015aug_all=0.222045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 40766923 rs2229826 G A 627.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.476;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.007;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL9A2;Func=exonic;Gene=NM_001852;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL9A2:NM_001852:exon32:c.C2001T:p.A667A;Gencode=Name\x3eENST00000372748.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229826;cosmic70=.;CLNALLELEID=249892;CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified|Stickler_Syndrome,_Recessive;CLNDISDB=MedGen:CN043640|MedGen:CN169374|MedGen:CN239473;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00978435;esp6500siv2_all=0.0185;ExAC_ALL=0.0176;ExAC_AFR=0.0055;ExAC_AMR=0.0063;ExAC_EAS=0;ExAC_FIN=0.0462;ExAC_NFE=0.0224;ExAC_OTH=0.0280;ExAC_SAS=0.0113;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,25:53:99:656,0,802 1 40769588 rs112370406 C T 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.264;DP=43;ExcessHet=3.0103;FS=1.171;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.305;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL9A2;Func=intronic;Gene=NM_001852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372748.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112370406;cosmic70=.;CLNALLELEID=249902;CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified|Stickler_Syndrome,_Recessive;CLNDISDB=MedGen:CN043640|MedGen:CN169374|MedGen:CN239473;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0418;1000g2015aug_all=0.033147;esp6500siv2_all=0.0450;ExAC_ALL=0.0592;ExAC_AFR=0.0456;ExAC_AMR=0.1133;ExAC_EAS=0.0080;ExAC_FIN=0.2857;ExAC_NFE=0.0880;ExAC_OTH=0.0417;ExAC_SAS=0.0432;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,23:43:99:611,0,536 1 40769808 rs200009907 C T 624.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.364;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.17;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL9A2;Func=intronic;Gene=NM_001852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372748.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200009907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=0.0005;ExAC_ALL=0.0010;ExAC_AFR=0;ExAC_AMR=0.0107;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,22:43:99:653,0,541 1 40774194 rs364281 A C 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL9A2;Func=intronic;Gene=NM_001852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372748.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs364281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.672;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.7089;1000g2015aug_all=0.825679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 40778295 rs180908956 G A 593.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.032;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.339;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL9A2;Func=intronic;Gene=NM_001852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372748.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs180908956;cosmic70=.;CLNALLELEID=249926;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000998403;esp6500siv2_all=0.0005;ExAC_ALL=0.0003;ExAC_AFR=0.0006;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0005;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:622,0,557 1 40840296 rs1965999 T A 148.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=13;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-1.437;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e34\x3bName\x3e"93030:(GT)n(Simple_repeat)";avsnp150=rs1965999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.3761;1000g2015aug_all=0.452077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:93:186,0,93 1 40872195 rs209600 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614549.4,ENST00000539317.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1349\x3bName\x3e"93088:L1MB7(LINE)";avsnp150=rs209600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9193;1000g2015aug_all=0.939696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 40878508 rs209603 C T 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614549.4,ENST00000539317.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9207;1000g2015aug_all=0.948083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 40879636 rs209604 T C 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539317.2,ENST00000614549.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9222;1000g2015aug_all=0.948083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 40879808 rs209605 G T 989.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614549.4,ENST00000539317.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.8199;1000g2015aug_all=0.861222;esp6500siv2_all=0.9423;ExAC_ALL=0.8577;ExAC_AFR=0.9555;ExAC_AMR=0.7698;ExAC_EAS=0.7723;ExAC_FIN=0.7846;ExAC_NFE=0.8755;ExAC_OTH=0.8662;ExAC_SAS=0.8585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1018,96,0 1 40880804 rs2294755 C T 259.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.08;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=intronic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539317.2,ENST00000614549.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.274;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.2262;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:288,21,0 1 40881041 rs209606 C G 2577.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=0.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMAP2;Func=exonic;Gene=NM_001198978,NM_001198979,NM_001198980,NM_022733;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SMAP2:NM_001198978:exon7:c.C579G:p.S193S,SMAP2:NM_001198979:exon7:c.C654G:p.S218S,SMAP2:NM_001198980:exon7:c.C429G:p.S143S,SMAP2:NM_022733:exon7:c.C669G:p.S223S;Gencode=Name\x3eENST00000614549.4,ENST00000539317.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs209606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9222;1000g2015aug_all=0.948083;esp6500siv2_all=0.9153;ExAC_ALL=0.8978;ExAC_AFR=0.9792;ExAC_AMR=0.9187;ExAC_EAS=0.9674;ExAC_FIN=0.7856;ExAC_NFE=0.8780;ExAC_OTH=0.9108;ExAC_SAS=0.9197;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2606,258,0 1 40935115 rs10889418 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_023070,NM_198494;GeneDetail=dist\x3e5725\x3bdist\x3e8187;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2050\x3bName\x3e"93254:AluJr(SINE)";avsnp150=rs10889418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9637;1000g2015aug_amr=1;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 40955156 rs10789144 A T 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.23;DP=28;ExcessHet=3.0103;FS=6.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.714;SOR=0.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZFP69;Func=intronic;Gene=NM_001320178,NM_001320179,NM_198494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372706.5,ENST00000372705.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10789144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.5119;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.2695;1000g2015aug_all=0.264976;esp6500siv2_all=0.3867;ExAC_ALL=0.4220;ExAC_AFR=0.1146;ExAC_AMR=0.2447;ExAC_EAS=0.2953;ExAC_FIN=0.5720;ExAC_NFE=0.5222;ExAC_OTH=0.4275;ExAC_SAS=0.3314;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,19:28:99:573,0,292 1 40955375 rs10157181 G C 276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZFP69;Func=intronic;Gene=NM_001320178,NM_001320179,NM_198494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372705.3,ENST00000372706.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2623\x3bName\x3e"93307:MSTB(LTR)";avsnp150=rs10157181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.111;1000g2015aug_all=0.108626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:305,0,406 1 40980559 rs1134586 G A 1098.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.017;DP=113;ExcessHet=3.0103;FS=1.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.099;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO5;Func=exonic;Gene=NM_001346946,NM_001346947,NM_001346948,NM_001346949,NM_001346950,NM_001346951,NM_001346952,NM_001346953,NM_001346954,NM_001346955,NM_001346956,NM_022774;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO5:NM_001346948:exon2:c.G343A:p.D115N,EXO5:NM_001346954:exon2:c.G343A:p.D115N,EXO5:NM_001346956:exon2:c.G343A:p.D115N,EXO5:NM_001346946:exon3:c.G343A:p.D115N,EXO5:NM_001346951:exon3:c.G343A:p.D115N,EXO5:NM_001346952:exon3:c.G343A:p.D115N,EXO5:NM_001346955:exon3:c.G343A:p.D115N,EXO5:NM_022774:exon3:c.G343A:p.D115N,EXO5:NM_001346947:exon4:c.G343A:p.D115N,EXO5:NM_001346949:exon4:c.G343A:p.D115N,EXO5:NM_001346950:exon4:c.G343A:p.D115N,EXO5:NM_001346953:exon4:c.G343A:p.D115N;Gencode=Name\x3eENST00000453437.1,ENST00000296380.8,ENST00000372703.1,ENST00000358527.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1134586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.062;1000g2015aug_amr=0.111;1000g2015aug_all=0.106629;esp6500siv2_all=0.1562;ExAC_ALL=0.1535;ExAC_AFR=0.0921;ExAC_AMR=0.1043;ExAC_EAS=0.0219;ExAC_FIN=0.1525;ExAC_NFE=0.1796;ExAC_OTH=0.2093;ExAC_SAS=0.1876;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.446;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.15;Polyphen2_HVAR_pred=B;LRT_score=0.551;LRT_pred=N;MutationTaster_score=0.431;MutationTaster_pred=P;MutationAssessor_score=2.48;MutationAssessor_pred=M;FATHMM_score=1.56;FATHMM_pred=T;phyloP100way_vertebrate=1.374;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=8.585;gerp++gt2=3.65;CADD=1.649;CADD_Phred=14.12;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,40:113:99:1127,0,2077 1 40980731 rs11208299 G T 1046.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.322;DP=91;ExcessHet=3.0103;FS=3.943;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.74;SOR=0.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO5;Func=exonic;Gene=NM_001346946,NM_001346947,NM_001346948,NM_001346949,NM_001346950,NM_001346951,NM_001346952,NM_001346953,NM_001346954,NM_001346955,NM_001346956,NM_022774;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO5:NM_001346948:exon2:c.G515T:p.G172V,EXO5:NM_001346954:exon2:c.G515T:p.G172V,EXO5:NM_001346956:exon2:c.G515T:p.G172V,EXO5:NM_001346946:exon3:c.G515T:p.G172V,EXO5:NM_001346951:exon3:c.G515T:p.G172V,EXO5:NM_001346952:exon3:c.G515T:p.G172V,EXO5:NM_001346955:exon3:c.G515T:p.G172V,EXO5:NM_022774:exon3:c.G515T:p.G172V,EXO5:NM_001346947:exon4:c.G515T:p.G172V,EXO5:NM_001346949:exon4:c.G515T:p.G172V,EXO5:NM_001346950:exon4:c.G515T:p.G172V,EXO5:NM_001346953:exon4:c.G515T:p.G172V;Gencode=Name\x3eENST00000372703.1,ENST00000296380.8,ENST00000358527.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.6997;1000g2015aug_amr=0.536;1000g2015aug_all=0.542133;esp6500siv2_all=0.4619;ExAC_ALL=0.4444;ExAC_AFR=0.6527;ExAC_AMR=0.5903;ExAC_EAS=0.4951;ExAC_FIN=0.3427;ExAC_NFE=0.3697;ExAC_OTH=0.4681;ExAC_SAS=0.5257;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.478;LRT_pred=N;MutationTaster_score=0.940;MutationTaster_pred=P;MutationAssessor_score=-3.005;MutationAssessor_pred=N;FATHMM_score=1.83;FATHMM_pred=T;phyloP100way_vertebrate=2.137;phyloP20way_mammalian=0.152;SiPhy_29way_logOdds=5.397;gerp++gt2=3.96;CADD=1.360;CADD_Phred=12.58;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,43:91:99:1075,0,1447 1 40998811 rs6659361 A G 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.924;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.073;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF684;Func=intronic;Gene=NM_152373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372699.7,ENST00000372697.7,ENST00000372696.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.059;1000g2015aug_amr=0.1095;1000g2015aug_all=0.105431;esp6500siv2_all=0.1542;ExAC_ALL=0.1523;ExAC_AFR=0.0856;ExAC_AMR=0.1033;ExAC_EAS=0.0221;ExAC_FIN=0.1524;ExAC_NFE=0.1788;ExAC_OTH=0.2022;ExAC_SAS=0.1874;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:344,0,347 1 41001794 rs6669767 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF684;Func=intronic;Gene=NM_152373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372696.3,ENST00000372697.7,ENST00000372699.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2652\x3bName\x3e"93442:AluY(SINE)";avsnp150=rs6669767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.6868;1000g2015aug_amr=0.5403;1000g2015aug_all=0.554513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41007403 rs41268073 T A 738.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.038;DP=75;ExcessHet=3.0103;FS=12.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.13;SOR=0.089;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF684;Func=intronic;Gene=NM_152373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372696.3,ENST00000372699.7,ENST00000372697.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41268073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.111;1000g2015aug_all=0.10643;esp6500siv2_all=0.1561;ExAC_ALL=0.1687;ExAC_AFR=0.1000;ExAC_AMR=0.1244;ExAC_EAS=0.0255;ExAC_FIN=0.1706;ExAC_NFE=0.1958;ExAC_OTH=0.2166;ExAC_SAS=0.1989;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,30:75:99:767,0,1566 1 41007539 rs41268075 C T 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.819;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF684;Func=intronic;Gene=NM_152373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372696.3,ENST00000372699.7,ENST00000372697.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41268075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.111;1000g2015aug_all=0.10643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,175 1 41013260 rs2297756 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF684;Func=UTR3;Gene=NM_152373;GeneDetail=NM_152373:c.*128C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372699.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.5432;1000g2015aug_all=0.561102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 41030464 rs17403513 A G 83.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152373,NM_014747;GeneDetail=dist\x3e16623\x3bdist\x3e55888;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17403513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1564;1000g2015aug_eur=0.159;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.098;1000g2015aug_all=0.0966454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:111,9,0 1 41092578 rs72941570 T C 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.22;ReadPosRankSum=-0.921;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372683.1,ENST00000372684.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e632\x3bName\x3e"93664:MIRb(SINE)";avsnp150=rs72941570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.5303;1000g2015aug_amr=0.2522;1000g2015aug_all=0.272764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:214,0,59 1 41094320 rs2076334 C G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-1.18;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372683.1,ENST00000372684.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e506\x3bName\x3e"93671:MIRb(SINE)";avsnp150=rs2076334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.2565;1000g2015aug_all=0.23762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 41095171 rs2076333 A G 264.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.961;DP=24;ExcessHet=3.0103;FS=14.77;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.179;SOR=3.032;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372684.7,ENST00000372683.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e871\x3bName\x3e"93672:MamTip3(DNA)";avsnp150=rs2076333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.2608;1000g2015aug_all=0.242412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:293,0,411 1 41095350 rs61779213 A C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372684.7,ENST00000372683.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e871\x3bName\x3e"93672:MamTip3(DNA)";avsnp150=rs61779213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.2935;1000g2015aug_amr=0.2579;1000g2015aug_all=0.23742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 41098478 rs542214 A G 377.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.79;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372684.7,ENST00000372683.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs542214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.6787;1000g2015aug_all=0.707867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:406,30,0 1 41101572 rs2253835 A G 970.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372684.7,ENST00000372683.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.6801;1000g2015aug_all=0.709065;esp6500siv2_all=0.8335;ExAC_ALL=0.7393;ExAC_AFR=0.8985;ExAC_AMR=0.6470;ExAC_EAS=0.5562;ExAC_FIN=0.7727;ExAC_NFE=0.7882;ExAC_OTH=0.7277;ExAC_SAS=0.5899;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:999,84,0 1 41107360 rs491619 T C 3824.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=1.052;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372683.1,ENST00000372684.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs491619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.67;1000g2015aug_all=0.697883;esp6500siv2_all=0.8243;ExAC_ALL=0.7278;ExAC_AFR=0.8975;ExAC_AMR=0.6430;ExAC_EAS=0.5427;ExAC_FIN=0.7553;ExAC_NFE=0.7741;ExAC_OTH=0.7118;ExAC_SAS=0.5781;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:3853,362,0 1 41107612 rs2076332 C G 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.386;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.578;SOR=0.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=UTR5;Gene=NM_014747;GeneDetail=NM_014747:c.-15G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372683.1,ENST00000372684.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.226;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.2723;1000g2015aug_all=0.215455;esp6500siv2_all=0.2551;ExAC_ALL=0.2640;ExAC_AFR=0.2538;ExAC_AMR=0.2826;ExAC_EAS=0.1115;ExAC_FIN=0.2669;ExAC_NFE=0.2841;ExAC_OTH=0.2592;ExAC_SAS=0.2540;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:395,0,428 1 41107699 rs1534955 C G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372684.7,ENST00000372683.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e378\x3bName\x3e"93698:MIRb(SINE)";avsnp150=rs1534955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.295;1000g2015aug_amr=0.2983;1000g2015aug_all=0.263379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:34:149,0,34 1 41129573 rs654923 G A 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMS3;Func=intronic;Gene=NM_014747;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372683.1,ENST00000372684.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e538\x3bName\x3e"93757:MIRb(SINE)";avsnp150=rs654923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0149;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0880591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 41143186 rs12027614 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014747,NR_024567;GeneDetail=dist\x3e11862\x3bdist\x3e11566;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000440100.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2503\x3bName\x3e"93805:AluY(SINE)";avsnp150=rs12027614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.5159;1000g2015aug_all=0.48742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 41168917 rs6661855 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=intronic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_014223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372653.5,ENST00000456393.6,ENST00000620728.4,ENST00000447388.7,ENST00000372654.5,ENST00000425457.6,ENST00000427410.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1897\x3bName\x3e"93870:AluJb(SINE)";avsnp150=rs6661855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.6513;1000g2015aug_all=0.713658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41204569 rs1057925 C T 1482.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=1.055;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=exonic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_001308114,NM_001308115,NM_014223;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NFYC:NM_001308114:exon1:c.C54T:p.S18S,NFYC:NM_001142587:exon2:c.C54T:p.S18S,NFYC:NM_001142588:exon2:c.C54T:p.S18S,NFYC:NM_001142589:exon2:c.C54T:p.S18S,NFYC:NM_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S;Gencode=Name\x3eENST00000425457.6,ENST00000427410.6,ENST00000447388.7,ENST00000372652.5,ENST00000372654.5,ENST00000456393.6,ENST00000620728.4,ENST00000308733.9,ENST00000372653.5,ENST00000372651.5,ENST00000440226.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.5115;1000g2015aug_all=0.482029;esp6500siv2_all=0.5376;ExAC_ALL=0.5294;ExAC_AFR=0.4347;ExAC_AMR=0.4560;ExAC_EAS=0.5043;ExAC_FIN=0.5340;ExAC_NFE=0.5770;ExAC_OTH=0.5485;ExAC_SAS=0.4579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1511,129,0 1 41215075 rs3818758 T A 776.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.089;DP=52;ExcessHet=3.0103;FS=6.1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.124;SOR=2.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=intronic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_001308114,NM_001308115,NM_014223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372651.5,ENST00000440226.7,ENST00000372653.5,ENST00000620728.4,ENST00000308733.9,ENST00000456393.6,ENST00000447388.7,ENST00000372652.5,ENST00000372654.5,ENST00000427410.6,ENST00000425457.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2464;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:805,0,965 1 41228443 rs3767954 C G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=intronic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_001308114,NM_001308115,NM_014223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372653.5,ENST00000440226.7,ENST00000372651.5,ENST00000456393.6,ENST00000308733.9,ENST00000620728.4,ENST00000372654.5,ENST00000447388.7,ENST00000372652.5,ENST00000425457.6,ENST00000427410.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767954;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.928;1000g2015aug_all=0.916733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 41228898 rs4660454 G A 200.78 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.73;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=intronic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_001308114,NM_001308115,NM_014223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372651.5,ENST00000440226.7,ENST00000372653.5,ENST00000620728.4,ENST00000308733.9,ENST00000456393.6,ENST00000372652.5,ENST00000447388.7,ENST00000372654.5,ENST00000427410.6,ENST00000425457.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.9294;1000g2015aug_all=0.916933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:24:229,24,0 1 41235946 rs3754176 G A 998.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.693;DP=58;ExcessHet=3.0103;FS=8.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=0.111;SOR=0.156;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFYC;Func=intronic;Gene=NM_001142587,NM_001142588,NM_001142589,NM_001142590,NM_001308114,NM_001308115,NM_014223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000425457.6,ENST00000427410.6,ENST00000447388.7,ENST00000372652.5,ENST00000372654.5,ENST00000456393.6,ENST00000620728.4,ENST00000308733.9,ENST00000372653.5,ENST00000372651.5,ENST00000440226.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.152;1000g2015aug_amr=0.2651;1000g2015aug_all=0.294129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,35:58:99:1027,0,705 1 41270937 rs9970508 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e937\x3bName\x3e"94076:L2(LINE)";avsnp150=rs9970508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.3936;1000g2015aug_afr=0.32;1000g2015aug_amr=0.3012;1000g2015aug_all=0.308506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 41271251 rs4660465 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.3012;1000g2015aug_all=0.332069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41282919 rs13374844 C T 729.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13374844;cosmic70=.;CLNALLELEID=249929;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.1758;1000g2015aug_all=0.200479;esp6500siv2_all=0.1482;ExAC_ALL=0.1754;ExAC_AFR=0.1865;ExAC_AMR=0.1284;ExAC_EAS=0.3152;ExAC_FIN=0.1679;ExAC_NFE=0.1623;ExAC_OTH=0.1594;ExAC_SAS=0.1779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:51:758,51,0 1 41282921 rs13374845 C T 729.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13374845;cosmic70=.;CLNALLELEID=249931;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.1744;1000g2015aug_all=0.198482;esp6500siv2_all=0.1481;ExAC_ALL=0.1737;ExAC_AFR=0.1778;ExAC_AMR=0.1269;ExAC_EAS=0.3129;ExAC_FIN=0.1673;ExAC_NFE=0.1613;ExAC_OTH=0.1591;ExAC_SAS=0.1777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:758,51,0 1 41284119 rs2296838 C G 322.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3373;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.1744;1000g2015aug_all=0.199481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:351,30,0 1 41284366 rs2361660 G C 1077.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2361660;cosmic70=.;CLNALLELEID=54271;CLNDN=DFNA_2_Nonsyndromic_Hearing_Loss|not_specified;CLNDISDB=MedGen:C2677637,OMIM:600101|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.5548;1000g2015aug_all=0.567492;esp6500siv2_all=0.6917;ExAC_ALL=0.6757;ExAC_AFR=0.6362;ExAC_AMR=0.5611;ExAC_EAS=0.5163;ExAC_FIN=0.7461;ExAC_NFE=0.7377;ExAC_OTH=0.6388;ExAC_SAS=0.5886;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1106,99,0 1 41284406 rs2361659 A G 639.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2361659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.5548;1000g2015aug_all=0.566893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:668,63,0 1 41284461 rs556047879 G A 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.374;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=1.016;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs556047879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:298,0,86 1 41284509 rs2361658 C G 135.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2361658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.5519;1000g2015aug_all=0.561701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:163,12,0 1 41284520 rs2361657 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2361657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.5504;1000g2015aug_all=0.560503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 41284527 rs2885330 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2885330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.553;1000g2015aug_amr=0.5519;1000g2015aug_all=0.5623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 41284805 rs3767937 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"94109:G-rich(Low_complexity)";avsnp150=rs3767937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.8238;1000g2015aug_amr=0.7017;1000g2015aug_all=0.745807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41285087 rs4660468 T C 3201.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=exonic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNQ4:NM_004700:exon5:c.T777C:p.A259A,KCNQ4:NM_172163:exon5:c.T777C:p.A259A;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660468;cosmic70=.;CLNALLELEID=54272;CLNDN=DFNA_2_Nonsyndromic_Hearing_Loss|not_specified;CLNDISDB=MedGen:C2677637,OMIM:600101|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.562;1000g2015aug_all=0.563299;esp6500siv2_all=0.6763;ExAC_ALL=0.6512;ExAC_AFR=0.5719;ExAC_AMR=0.5071;ExAC_EAS=0.4488;ExAC_FIN=0.7288;ExAC_NFE=0.7255;ExAC_OTH=0.6413;ExAC_SAS=0.5769;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3230,309,0 1 41285585 rs12117176 G A 3978.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=1.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=exonic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNQ4:NM_004700:exon6:c.G873A:p.P291P,KCNQ4:NM_172163:exon6:c.G873A:p.P291P;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12117176;cosmic70=.;CLNALLELEID=54274;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.0994;1000g2015aug_all=0.115615;esp6500siv2_all=0.0659;ExAC_ALL=0.1050;ExAC_AFR=0.0273;ExAC_AMR=0.0814;ExAC_EAS=0.2151;ExAC_FIN=0.1317;ExAC_NFE=0.0970;ExAC_OTH=0.0936;ExAC_SAS=0.1356;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:4007,273,0 1 41285591 rs12143503 A G 3946.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=exonic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNQ4:NM_004700:exon6:c.A879G:p.T293T,KCNQ4:NM_172163:exon6:c.A879G:p.T293T;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12143503;cosmic70=.;CLNALLELEID=54275;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.0994;1000g2015aug_all=0.116214;esp6500siv2_all=0.0640;ExAC_ALL=0.1051;ExAC_AFR=0.0265;ExAC_AMR=0.0813;ExAC_EAS=0.2170;ExAC_FIN=0.1320;ExAC_NFE=0.0970;ExAC_OTH=0.0936;ExAC_SAS=0.1355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:3975,273,0 1 41289993 rs3767940 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"94116:(CCT)n(Simple_repeat)";avsnp150=rs3767940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3449;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.2349;1000g2015aug_all=0.309305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 41298652 rs913378 T C 2022.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.519;DP=140;ExcessHet=3.0103;FS=2.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.324;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347132.9,ENST00000509682.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs913378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.7738;1000g2015aug_all=0.738618;esp6500siv2_all=0.6696;ExAC_ALL=0.7139;ExAC_AFR=0.6839;ExAC_AMR=0.8297;ExAC_EAS=0.8603;ExAC_FIN=0.6964;ExAC_NFE=0.6678;ExAC_OTH=0.7201;ExAC_SAS=0.7681;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,75:140:99:2051,0,1550 1 41301019 rs729589 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNQ4;Func=intronic;Gene=NM_004700,NM_172163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509682.6,ENST00000347132.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs729589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.4179;1000g2015aug_all=0.494209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 41327873 rs12081504 G C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCITED4;Func=UTR5;Gene=NM_133467;GeneDetail=NM_133467:c.-74C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372638.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12081504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.7061;1000g2015aug_all=0.69389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 41392221 rs12138157 G C 31.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_133467,NM_001905;GeneDetail=dist\x3e64203\x3bdist\x3e52750;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.2291;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:60:60,0,69 1 41433438 rs546085443 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_133467,NM_001905;GeneDetail=dist\x3e105420\x3bdist\x3e11533;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e284\x3bName\x3e"94569:L2a(LINE)";avsnp150=rs546085443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41454425 rs6675122 G A 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.133;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.26;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372621.8,ENST00000372616.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.205;1000g2015aug_amr=0.1599;1000g2015aug_all=0.151158;esp6500siv2_all=0.2297;ExAC_ALL=0.2052;ExAC_AFR=0.2033;ExAC_AMR=0.1473;ExAC_EAS=0.0428;ExAC_FIN=0.2764;ExAC_NFE=0.2542;ExAC_OTH=0.2097;ExAC_SAS=0.1034;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,15:44:99:394,0,807 1 41456689 rs11209331 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372621.8,ENST00000372616.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e423\x3bName\x3e"94638:HAL1(LINE)";avsnp150=rs11209331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.5403;1000g2015aug_all=0.357827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41466472 rs12731155 A G 145.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372616.1,ENST00000372621.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12731155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.5403;1000g2015aug_all=0.334265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:174,15,0 1 41466550 rs12735455 T A 654.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372621.8,ENST00000372616.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12735455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.5389;1000g2015aug_all=0.333267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:683,54,0 1 41466803 rs12718433 G A 1079.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372616.1,ENST00000372621.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12718433;cosmic70=.;CLNALLELEID=389436;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.5389;1000g2015aug_all=0.333067;esp6500siv2_all=0.3332;ExAC_ALL=0.4048;ExAC_AFR=0.1680;ExAC_AMR=0.5766;ExAC_EAS=0.4115;ExAC_FIN=0.4179;ExAC_NFE=0.4263;ExAC_OTH=0.4155;ExAC_SAS=0.3346;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1108,99,0 1 41473283 rs41308258 A G 596.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.271;DP=50;ExcessHet=3.0103;FS=1.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.678;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372621.8,ENST00000372616.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41308258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.1657;1000g2015aug_all=0.117212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,21:50:99:625,0,891 1 41475085 rs12144160 A G 578.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTPS1;Func=intronic;Gene=NM_001301237,NM_001905;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372616.1,ENST00000372621.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.6095;1000g2015aug_all=0.467851;esp6500siv2_all=0.4624;ExAC_ALL=0.5378;ExAC_AFR=0.2579;ExAC_AMR=0.6637;ExAC_EAS=0.5400;ExAC_FIN=0.5241;ExAC_NFE=0.5615;ExAC_OTH=0.5424;ExAC_SAS=0.5339;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:607,51,0 1 41483951 rs11209361 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLFNL1,SLFNL1-AS1;Func=ncRNA_exonic;Gene=NR_037868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302946.12,ENST00000372611.5,ENST00000359345.5,ENST00000372613.6,ENST00000626479.1,ENST00000439569.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11209361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.2896;1000g2015aug_all=0.181909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41485902 rs3738368 C G 928.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLFNL1,SLFNL1-AS1;Func=exonic;Gene=NM_001168247,NM_001300859,NM_144990;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T,SLFNL1:NM_001300859:exon3:c.G431C:p.R144T;Gencode=Name\x3eENST00000626479.1,ENST00000439569.2,ENST00000302946.12,ENST00000372611.5,ENST00000359345.5,ENST00000372613.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.2896;1000g2015aug_all=0.182109;esp6500siv2_all=0.2287;ExAC_ALL=0.2750;ExAC_AFR=0.0606;ExAC_AMR=0.2914;ExAC_EAS=0.1394;ExAC_FIN=0.3147;ExAC_NFE=0.3226;ExAC_OTH=0.3027;ExAC_SAS=0.2551;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.946;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.592;Polyphen2_HVAR_pred=P;LRT_score=0.045;LRT_pred=N;MutationTaster_score=0.906;MutationTaster_pred=P;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_pred=T;phyloP100way_vertebrate=0.181;phyloP20way_mammalian=0.059;SiPhy_29way_logOdds=8.589;gerp++gt2=3.77;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:957,81,0 1 41486245 rs1138293 C T 1485.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.045;DP=137;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.001;SOR=0.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLFNL1-AS1,SLFNL1;Func=exonic;Gene=NM_001168247,NM_001300859,NM_144990;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLFNL1:NM_144990:exon2:c.G88A:p.A30T,SLFNL1:NM_001168247:exon3:c.G88A:p.A30T,SLFNL1:NM_001300859:exon3:c.G88A:p.A30T;Gencode=Name\x3eENST00000302946.12,ENST00000372613.6,ENST00000372611.5,ENST00000359345.5,ENST00000626479.1,ENST00000439569.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1138293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.092;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.134;1000g2015aug_all=0.0884585;esp6500siv2_all=0.1451;ExAC_ALL=0.1537;ExAC_AFR=0.0366;ExAC_AMR=0.1251;ExAC_EAS=0.0373;ExAC_FIN=0.1835;ExAC_NFE=0.2034;ExAC_OTH=0.1782;ExAC_SAS=0.0942;SIFT_score=0.602;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.082;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.19;FATHMM_pred=T;phyloP100way_vertebrate=-2.789;phyloP20way_mammalian=-2.093;SiPhy_29way_logOdds=7.695;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,61:137:99:1514,0,2003 1 41493749 rs11555079 G A 1241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.289;DP=66;ExcessHet=3.0103;FS=2.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-0.68;SOR=1.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1,SLFNL1-AS1;Func=ncRNA_intronic;Gene=NR_037868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361705.7,ENST00000372595.5,ENST00000372597.5,ENST00000372596.5,ENST00000397171.6,ENST00000361191.9,ENST00000626479.1,ENST00000337495.9,ENST00000326197.11,ENST00000402904.6,ENST00000397174.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11555079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1369;1000g2015aug_all=0.0888578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,42:66:99:1270,0,656 1 41494222 rs11578697 G T 5934.77 PASS AC=2;AF=1;AN=2;DP=185;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1,SLFNL1-AS1;Func=ncRNA_exonic;Gene=NR_037868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372595.5,ENST00000361705.7,ENST00000397171.6,ENST00000372596.5,ENST00000372597.5,ENST00000626479.1,ENST00000337495.9,ENST00000361191.9,ENST00000397174.6,ENST00000402904.6,ENST00000326197.11,ENST00000456518.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.572;1000g2015aug_all=0.423922;esp6500siv2_all=0.4017;ExAC_ALL=0.4802;ExAC_AFR=0.2167;ExAC_AMR=0.6298;ExAC_EAS=0.5438;ExAC_FIN=0.4649;ExAC_NFE=0.4951;ExAC_OTH=0.4922;ExAC_SAS=0.4523;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,185:185:99:5963,555,0 1 41499540 rs74545213 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.254;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1,SLFNL1-AS1;Func=ncRNA_intronic;Gene=NR_037868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372596.5,ENST00000397171.6,ENST00000372597.5,ENST00000372595.5,ENST00000361705.7,ENST00000397174.6,ENST00000402904.6,ENST00000326197.11,ENST00000456518.3,ENST00000337495.9,ENST00000626479.1,ENST00000361191.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74545213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.0914537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,180 1 41513314 rs187865717 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372595.5,ENST00000361705.7,ENST00000372597.5,ENST00000397171.6,ENST00000372596.5,ENST00000337495.9,ENST00000361191.9,ENST00000397174.6,ENST00000326197.11,ENST00000456518.3,ENST00000402904.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2453\x3bName\x3e"94745:AluSx(SINE)";avsnp150=rs187865717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41515141 rs79162103 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372596.5,ENST00000397171.6,ENST00000372597.5,ENST00000372595.5,ENST00000361705.7,ENST00000397174.6,ENST00000402904.6,ENST00000326197.11,ENST00000456518.3,ENST00000337495.9,ENST00000361191.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79162103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0533;1000g2015aug_all=0.048722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 41540853 rs2011981 A T 1238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.073;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.65;ReadPosRankSum=-0.845;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397174.6,ENST00000402904.6,ENST00000326197.11,ENST00000456518.3,ENST00000337495.9,ENST00000361191.9,ENST00000397171.6,ENST00000372596.5,ENST00000372597.5,ENST00000372595.5,ENST00000361705.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2011981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.907;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.8631;1000g2015aug_all=0.909145;esp6500siv2_all=0.8390;ExAC_ALL=0.8335;ExAC_AFR=0.9568;ExAC_AMR=0.8747;ExAC_EAS=0.9607;ExAC_FIN=0.7877;ExAC_NFE=0.7793;ExAC_OTH=0.8249;ExAC_SAS=0.8977;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,32:60:99:1267,0,1657 1 41540861 rs2011982 T C 1307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.372;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=0.107;SOR=0.576;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372595.5,ENST00000361705.7,ENST00000372597.5,ENST00000372596.5,ENST00000397171.6,ENST00000337495.9,ENST00000361191.9,ENST00000397174.6,ENST00000326197.11,ENST00000456518.3,ENST00000402904.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2011982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9524;1000g2015aug_sas=0.907;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.8631;1000g2015aug_all=0.910942;esp6500siv2_all=0.8402;ExAC_ALL=0.8339;ExAC_AFR=0.9613;ExAC_AMR=0.8749;ExAC_EAS=0.9614;ExAC_FIN=0.7880;ExAC_NFE=0.7793;ExAC_OTH=0.8249;ExAC_SAS=0.8977;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,35:67:99:1336,0,1750 1 41541166 rs41269465 C T 514.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.15;DP=33;ExcessHet=3.0103;FS=5.46;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.553;SOR=0.525;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397174.6,ENST00000326197.11,ENST00000456518.3,ENST00000402904.6,ENST00000337495.9,ENST00000361191.9,ENST00000372597.5,ENST00000372596.5,ENST00000397171.6,ENST00000372595.5,ENST00000361705.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.091254;esp6500siv2_all=0.0676;ExAC_ALL=0.1032;ExAC_AFR=0.0176;ExAC_AMR=0.1682;ExAC_EAS=0.0994;ExAC_FIN=0.1028;ExAC_NFE=0.1003;ExAC_OTH=0.1211;ExAC_SAS=0.1255;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,20:33:99:543,0,444 1 41582373 rs11209562 A G 546.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.16;ReadPosRankSum=-0.075;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000402904.6,ENST00000456518.3,ENST00000326197.11,ENST00000397174.6,ENST00000361191.9,ENST00000337495.9,ENST00000372596.5,ENST00000397171.6,ENST00000372597.5,ENST00000361705.7,ENST00000372595.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11209562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.091254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,15:17:32:575,0,32 1 41582470 rs11209563 T C 1146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.19;DP=64;ExcessHet=3.0103;FS=2.901;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=2.126;SOR=1.291;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372595.5,ENST00000361705.7,ENST00000372597.5,ENST00000397171.6,ENST00000372596.5,ENST00000337495.9,ENST00000361191.9,ENST00000397174.6,ENST00000326197.11,ENST00000456518.3,ENST00000402904.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11209563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.091254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,36:64:99:1175,0,807 1 41582760 rs11209565 G A 664.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.202;DP=35;ExcessHet=3.0103;FS=2.483;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-0.05;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372596.5,ENST00000397171.6,ENST00000372597.5,ENST00000361705.7,ENST00000372595.5,ENST00000402904.6,ENST00000456518.3,ENST00000326197.11,ENST00000397174.6,ENST00000361191.9,ENST00000337495.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8449\x3bName\x3e"94902:LTR13(LTR)";avsnp150=rs11209565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.091254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:693,0,521 1 41618442 rs213768 A T 686.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.256;DP=57;ExcessHet=3.0103;FS=2.373;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.135;SOR=1.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001031694,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222,NM_001350667,NM_001350668,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372597.5,ENST00000397171.6,ENST00000372596.5,ENST00000361705.7,ENST00000372595.5,ENST00000456518.3,ENST00000326197.11,ENST00000402904.6,ENST00000361191.9,ENST00000337495.9;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs213768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9524;1000g2015aug_sas=0.907;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.8631;1000g2015aug_all=0.911142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,27:57:99:715,0,894 1 41627206 rs11209604 C T 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.156;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCMH1;Func=intronic;Gene=NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001350667,NM_012236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337495.9,ENST00000372595.5,ENST00000372597.5,ENST00000372596.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e563\x3bName\x3e"94998:L1ME4c(LINE)";avsnp150=rs11209604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1542;1000g2015aug_all=0.091254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:222,0,139 1 41769334 rs12032215 A G 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012236,NM_001291281;GeneDetail=dist\x3e61519\x3bdist\x3e58269;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9062\x3bName\x3e"95319:HSMAR1(DNA)";avsnp150=rs12032215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.1138;1000g2015aug_all=0.173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 41769337 rs12035353 G A 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012236,NM_001291281;GeneDetail=dist\x3e61522\x3bdist\x3e58266;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9062\x3bName\x3e"95319:HSMAR1(DNA)";avsnp150=rs12035353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.1138;1000g2015aug_all=0.173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:71:123,0,71 1 41797999 rs35690915 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012236,NM_001291281;GeneDetail=dist\x3e90184\x3bdist\x3e29604;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2219\x3bName\x3e"95393:AluSz6(SINE)";avsnp150=rs35690915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.1012;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.1095;1000g2015aug_all=0.171526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:31:81,0,31 1 41825475 rs4660528 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012236,NM_001291281;GeneDetail=dist\x3e117660\x3bdist\x3e2128;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9734;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.9611;1000g2015aug_all=0.868211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41837784 rs4660530 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXO6;Func=intronic;Gene=NM_001291281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372591.1,ENST00000615371.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.9135;1000g2015aug_all=0.840056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 41848060 rs12092825 C T 853.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXO6;Func=exonic;Gene=NM_001291281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FOXO6:NM_001291281:exon3:c.C1187T:p.A396V;Gencode=Name\x3eENST00000372591.1,ENST00000615371.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12092825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.6896;ExAC_AFR=0.25;ExAC_AMR=1;ExAC_EAS=0.4444;ExAC_FIN=0.3333;ExAC_NFE=0.7692;ExAC_OTH=0.8125;ExAC_SAS=0.682;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.78;FATHMM_pred=D;phyloP100way_vertebrate=0.756;phyloP20way_mammalian=0.679;SiPhy_29way_logOdds=13.064;gerp++gt2=2.83;CADD=2.758;CADD_Phred=21.1;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:882,69,0 1 41848296 rs4359027 G A 4844.77 PASS AC=2;AF=1;AN=2;DP=163;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXO6;Func=exonic;Gene=NM_001291281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FOXO6:NM_001291281:exon3:c.G1423A:p.A475T;Gencode=Name\x3eENST00000372591.1,ENST00000615371.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4359027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.5089;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.6037;1000g2015aug_all=0.386781;esp6500siv2_all=.;ExAC_ALL=0.4437;ExAC_AFR=0.2705;ExAC_AMR=0.5602;ExAC_EAS=0.3854;ExAC_FIN=0.6102;ExAC_NFE=0.5165;ExAC_OTH=0.4653;ExAC_SAS=0.4073;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.007;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.86;FATHMM_pred=D;phyloP100way_vertebrate=-0.779;phyloP20way_mammalian=-0.237;SiPhy_29way_logOdds=9.324;gerp++gt2=.;CADD=1.475;CADD_Phred=13.18;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,163:163:99:4873,488,0 1 41853841 rs12078549 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e4578\x3bdist\x3e90606;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12078549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.2089;1000g2015aug_all=0.184305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41873894 rs2801965 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e24631\x3bdist\x3e70553;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2801965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.7806;1000g2015aug_amr=0.6297;1000g2015aug_all=0.808107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41877416 rs2996011 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e28153\x3bdist\x3e67031;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e408\x3bName\x3e"95577:MIR3(SINE)";avsnp150=rs2996011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.7522;1000g2015aug_all=0.715455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41882307 rs2801964 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e33044\x3bdist\x3e62140;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"95587:(TC)n(Simple_repeat)";avsnp150=rs2801964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.9294;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.9063;1000g2015aug_all=0.873802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41892022 rs57713851 A G 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e42760\x3bdist\x3e52424;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57713851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.816;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.7061;1000g2015aug_all=0.83746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 41908848 rs4325123 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e59586\x3bdist\x3e35598;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e191\x3bName\x3e"95636:L3(LINE)";avsnp150=rs4325123;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9534;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9481;1000g2015aug_all=0.948283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 41916248 rs2781244 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291281,NM_001302269;GeneDetail=dist\x3e66986\x3bdist\x3e28198;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2781244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9986;1000g2015aug_all=0.99361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 41949595 rs2759256 G A 1958.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=1.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDN2;Func=intronic;Gene=NM_001302269,NM_001956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372587.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.9986;1000g2015aug_all=0.995208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1987,177,0 1 41949628 rs2759257 A C 2190.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.385;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDN2;Func=intronic;Gene=NM_001302269,NM_001956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372587.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.727;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.8948;1000g2015aug_all=0.823283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2219,207,0 1 41949972 rs11210278 C T 61.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-0.872;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDN2;Func=intronic;Gene=NM_001302269,NM_001956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372587.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.0922;1000g2015aug_all=0.155351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:90:90,0,259 1 41950312 rs2984691 T C 1337.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDN2;Func=UTR5;Gene=NM_001302269,NM_001956;GeneDetail=NM_001302269:c.-40A>G\x3bNM_001956:c.-40A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372587.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2984691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.9481;1000g2015aug_all=0.896965;esp6500siv2_all=0.9228;ExAC_ALL=0.8836;ExAC_AFR=0.8648;ExAC_AMR=0.9149;ExAC_EAS=0.9575;ExAC_FIN=0.9706;ExAC_NFE=0.9332;ExAC_OTH=0.83;ExAC_SAS=0.8249;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1366,111,0 1 41950513 rs11210280 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001302269,NM_001956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0922;1000g2015aug_all=0.158347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 41976328 rs9439043 T C 1421.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HIVEP3:NM_001127714:exon8:c.A7012G:p.T2338A,HIVEP3:NM_024503:exon9:c.A7015G:p.T2339A;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9439043;cosmic70=.;CLNALLELEID=389395;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.9899;1000g2015aug_all=0.963059;esp6500siv2_all=0.9691;ExAC_ALL=0.9890;ExAC_AFR=0.8821;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=0.9917;ExAC_NFE=0.9986;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.392;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.625;MutationAssessor_pred=N;FATHMM_score=3.44;FATHMM_pred=T;phyloP100way_vertebrate=0.588;phyloP20way_mammalian=-0.323;SiPhy_29way_logOdds=8.562;gerp++gt2=2.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1450,114,0 1 41978359 rs2984693 G T 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e199\x3bName\x3e"95785:MIRb(SINE)";avsnp150=rs2984693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.9914;1000g2015aug_all=0.965455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 41978566 rs2991344 T G 446.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HIVEP3:NM_001127714:exon7:c.A6326C:p.D2109A,HIVEP3:NM_024503:exon8:c.A6326C:p.D2109A;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2991344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.9954;ExAC_ALL=0.9987;ExAC_AFR=0.9861;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.14;MutationAssessor_pred=N;FATHMM_score=3.5;FATHMM_pred=T;phyloP100way_vertebrate=1.109;phyloP20way_mammalian=-0.381;SiPhy_29way_logOdds=4.260;gerp++gt2=2.66;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:475,39,0 1 41978825 rs2483689 C G 4002.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=0.902;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HIVEP3:NM_001127714:exon7:c.G6067C:p.A2023P,HIVEP3:NM_024503:exon8:c.G6067C:p.A2023P;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2483689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9781;1000g2015aug_amr=1;1000g2015aug_all=0.994209;esp6500siv2_all=0.9948;ExAC_ALL=0.9986;ExAC_AFR=0.9843;ExAC_AMR=0.9991;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.34;MutationAssessor_pred=N;FATHMM_score=3.64;FATHMM_pred=T;phyloP100way_vertebrate=4.616;phyloP20way_mammalian=0.011;SiPhy_29way_logOdds=11.662;gerp++gt2=2.9;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,124:124:99:4031,371,0 1 41979156 rs615177 A G 1296.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIVEP3:NM_001127714:exon7:c.T5736C:p.A1912A,HIVEP3:NM_024503:exon8:c.T5736C:p.A1912A;Gencode=Name\x3eENST00000247584.6,ENST00000372584.5,ENST00000372583.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs615177;cosmic70=.;CLNALLELEID=389444;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.719;1000g2015aug_all=0.734425;esp6500siv2_all=0.6217;ExAC_ALL=0.6687;ExAC_AFR=0.6587;ExAC_AMR=0.7315;ExAC_EAS=0.9948;ExAC_FIN=0.6662;ExAC_NFE=0.6078;ExAC_OTH=0.6437;ExAC_SAS=0.6987;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1325,111,0 1 41983912 rs2810547 C A 2155.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.9813;1000g2015aug_all=0.946885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2184,203,0 1 41990795 rs2759248 T C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.4193;1000g2015aug_all=0.330671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 42008077 rs2991352 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247584.6,ENST00000372584.5,ENST00000372583.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2991352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.4597;1000g2015aug_all=0.524361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 42041479 rs1815257 A C 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.286;DP=21;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.471;SOR=0.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e412\x3bName\x3e"95879:MIR(SINE)";avsnp150=rs1815257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0179;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.087;1000g2015aug_amr=0.2608;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:346,0,203 1 42045302 rs2810564 G A 947.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247584.6,ENST00000372583.5,ENST00000372584.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9957;1000g2015aug_all=0.987819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:92:976,92,0 1 42046812 rs2810565 C T 2906.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.836;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.26;ReadPosRankSum=0.056;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIVEP3:NM_001127714:exon3:c.G3657A:p.Q1219Q,HIVEP3:NM_024503:exon4:c.G3657A:p.Q1219Q;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810565;cosmic70=.;CLNALLELEID=389445;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.9942;1000g2015aug_all=0.977236;esp6500siv2_all=0.9789;ExAC_ALL=0.9934;ExAC_AFR=0.9329;ExAC_AMR=0.9973;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9950;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,92:93:99:2935,265,0 1 42048745 rs2810566 T C 3766.77 PASS AC=2;AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HIVEP3:NM_001127714:exon3:c.A1724G:p.H575R,HIVEP3:NM_024503:exon4:c.A1724G:p.H575R;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9957;1000g2015aug_all=0.988019;esp6500siv2_all=0.9889;ExAC_ALL=0.9969;ExAC_AFR=0.9666;ExAC_AMR=0.9983;ExAC_EAS=0.9998;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=0.391;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.955;MutationAssessor_pred=N;FATHMM_score=3.57;FATHMM_pred=T;phyloP100way_vertebrate=1.793;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=7.909;gerp++gt2=2.77;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,117:117:99:3795,351,0 1 42049032 rs2984694 G A 2098.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIVEP3:NM_001127714:exon3:c.C1437T:p.S479S,HIVEP3:NM_024503:exon4:c.C1437T:p.S479S;Gencode=Name\x3eENST00000247584.6,ENST00000372584.5,ENST00000372583.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2984694;cosmic70=.;CLNALLELEID=389449;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.9899;1000g2015aug_all=0.949281;esp6500siv2_all=0.9549;ExAC_ALL=0.9868;ExAC_AFR=0.8558;ExAC_AMR=0.9942;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9900;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2127,174,0 1 42049140 rs2475842 C G 2566.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.82;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIVEP3:NM_001127714:exon3:c.G1329C:p.L443L,HIVEP3:NM_024503:exon4:c.G1329C:p.L443L;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2475842;cosmic70=.;CLNALLELEID=389454;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.9899;1000g2015aug_all=0.949281;esp6500siv2_all=0.9550;ExAC_ALL=0.9868;ExAC_AFR=0.8558;ExAC_AMR=0.9942;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9901;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2595,216,0 1 42050366 rs2146315 C T 1078.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.204;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.936;SOR=0.658;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=exonic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,HIVEP3:NM_024503:exon4:c.G103A:p.V35I;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5,ENST00000247584.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2146315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.3241;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.1945;1000g2015aug_all=0.309305;esp6500siv2_all=0.2550;ExAC_ALL=0.2722;ExAC_AFR=0.3057;ExAC_AMR=0.2128;ExAC_EAS=0.4319;ExAC_FIN=0.2973;ExAC_NFE=0.2422;ExAC_OTH=0.2998;ExAC_SAS=0.3401;SIFT_score=0.292;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.318;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=3.41;FATHMM_pred=T;phyloP100way_vertebrate=-1.015;phyloP20way_mammalian=-0.347;SiPhy_29way_logOdds=10.926;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,40:89:99:1107,0,1399 1 42089737 rs11210500 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000247584.6,ENST00000372583.5,ENST00000372584.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.4726;1000g2015aug_all=0.592053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 42230685 rs871343 A G 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.115;1000g2015aug_amr=0.4582;1000g2015aug_all=0.384984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 42230695 rs871344 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372583.5,ENST00000372584.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.4654;1000g2015aug_all=0.410343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 42242159 rs349430 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs349430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.9387;1000g2015aug_amr=0.6916;1000g2015aug_all=0.805911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 42345368 rs796724 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intronic;Gene=NM_001127714,NM_024503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372584.5,ENST00000372583.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs796724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.513;1000g2015aug_all=0.36242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 42414686 rs10789411 A G 225.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIVEP3;Func=intergenic;Gene=NM_024503,NONE;GeneDetail=dist\x3e30308\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9345\x3bName\x3e"96663:HERV17-int(LTR)";avsnp150=rs10789411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.304;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:254,24,0 1 42506381 rs10890177 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024503,NM_007102;GeneDetail=dist\x3e122003\x3bdist\x3e112711;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.6513;1000g2015aug_all=0.772963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 42506856 rs11584818 G A 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024503,NM_007102;GeneDetail=dist\x3e122478\x3bdist\x3e112236;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6915;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.2968;1000g2015aug_all=0.427716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 42507013 rs12758407 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024503,NM_007102;GeneDetail=dist\x3e122635\x3bdist\x3e112079;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.9018\x3bName\x3echr10:43385859;Repeat=.;avsnp150=rs12758407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.3098;1000g2015aug_all=0.463858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 42619152 rs2297567 C A 559.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.796;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.424;SOR=0.641;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGUCA2B;Func=exonic;Gene=NM_007102;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GUCA2B:NM_007102:exon1:c.C31A:p.P11T;Gencode=Name\x3eENST00000372581.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1597;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.0937;1000g2015aug_all=0.179113;esp6500siv2_all=0.1811;ExAC_ALL=0.1808;ExAC_AFR=0.1577;ExAC_AMR=0.0743;ExAC_EAS=0.1629;ExAC_FIN=0.1739;ExAC_NFE=0.1842;ExAC_OTH=0.2033;ExAC_SAS=0.2664;SIFT_score=0.875;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=-1.507;phyloP20way_mammalian=-0.023;SiPhy_29way_logOdds=1.9;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:588,0,836 1 42619377 rs2297566 G A 273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.856;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.628;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGUCA2B;Func=intronic;Gene=NM_007102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372581.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1597;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.0937;1000g2015aug_all=0.179313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:302,0,527 1 42629040 rs2232224 A G 3974.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGUCA2A;Func=intronic;Gene=NM_033553;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357001.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.9813;1000g2015aug_all=0.916933;esp6500siv2_all=0.9163;ExAC_ALL=0.9766;ExAC_AFR=0.7438;ExAC_AMR=0.9867;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9993;ExAC_OTH=0.9905;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:4003,354,0 1 42630364 rs2071499 G A 2337.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGUCA2A;Func=exonic;Gene=NM_033553;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GUCA2A:NM_033553:exon1:c.C20T:p.S7F;Gencode=Name\x3eENST00000357001.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.4172;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.572;1000g2015aug_all=0.384984;esp6500siv2_all=0.45;ExAC_ALL=0.5157;ExAC_AFR=0.1568;ExAC_AMR=0.6113;ExAC_EAS=0.4305;ExAC_FIN=0.65;ExAC_NFE=0.6385;ExAC_OTH=0.5721;ExAC_SAS=0.4923;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.845;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.367;Polyphen2_HVAR_pred=B;LRT_score=0.060;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.64;MutationAssessor_pred=M;FATHMM_score=0.85;FATHMM_pred=T;phyloP100way_vertebrate=0.701;phyloP20way_mammalian=0.998;SiPhy_29way_logOdds=6.147;gerp++gt2=2.79;CADD=1.552;CADD_Phred=13.59;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2366,222,0 1 42656819 rs16829212 T A 377.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXJ3;Func=intronic;Gene=NM_001198850,NM_001198851,NM_001198852,NM_014947;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545068.5,ENST00000361776.5,ENST00000372573.5,ENST00000361346.5,ENST00000372572.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16829212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.5187;1000g2015aug_all=0.397165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:406,30,0 1 42693597 rs343376 A G 2772.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.218;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXJ3;Func=exonic;Gene=NM_001198850,NM_001198851,NM_001198852,NM_014947;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A;Gencode=Name\x3eENST00000545068.5,ENST00000361776.5,ENST00000372573.5,ENST00000361346.5,ENST00000372572.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs343376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.8862;1000g2015aug_all=0.795327;esp6500siv2_all=0.7823;ExAC_ALL=0.8034;ExAC_AFR=0.7666;ExAC_AMR=0.9195;ExAC_EAS=0.8265;ExAC_FIN=0.8168;ExAC_NFE=0.8009;ExAC_OTH=0.7896;ExAC_SAS=0.7384;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.605;MutationAssessor_pred=N;FATHMM_score=-3.71;FATHMM_pred=D;phyloP100way_vertebrate=3.913;phyloP20way_mammalian=-0.326;SiPhy_29way_logOdds=9.486;gerp++gt2=3.81;CADD=1.326;CADD_Phred=12.40;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2801,261,0 1 42710572 rs343390 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXJ3;Func=intronic;Gene=NM_001198850,NM_001198851,NM_001198852,NM_014947;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361776.5,ENST00000545068.5,ENST00000372572.5,ENST00000361346.5,ENST00000372573.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2304\x3bName\x3e"97241:AluSg(SINE)";avsnp150=rs343390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.6391;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.8242;1000g2015aug_all=0.641973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 42730525 rs617824 T C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXJ3;Func=intronic;Gene=NM_001198850,NM_001198851,NM_001198852,NM_014947;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361776.5,ENST00000545068.5,ENST00000372572.5,ENST00000361346.5,ENST00000372573.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs617824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9629;1000g2015aug_amr=0.9971;1000g2015aug_all=0.989617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 42846786 rs11210626 G C 548.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=intronic;Gene=NM_173642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.5331;1000g2015aug_all=0.525359;esp6500siv2_all=0.6726;ExAC_ALL=0.6898;ExAC_AFR=0.7308;ExAC_AMR=0.5;ExAC_EAS=0.3;ExAC_FIN=.;ExAC_NFE=0.7;ExAC_OTH=0.5;ExAC_SAS=0.6667;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:577,57,0 1 42864868 rs4660630 C T 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.225;DP=27;ExcessHet=3.0103;FS=4.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.364;SOR=0.144;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=intronic;Gene=NM_173642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.1383;1000g2015aug_all=0.178514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:359,0,439 1 42865468 rs56751964 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-0.921;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=intronic;Gene=NM_173642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56751964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.1383;1000g2015aug_all=0.178514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,227 1 42870338 rs1105670 C T 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.764;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.388;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=intronic;Gene=NM_173642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1105670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2252;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.173;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.1354;1000g2015aug_all=0.153954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:328,0,318 1 42880516 rs1055055 T C 3716.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=0.955;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=exonic;Gene=NM_173642;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RIMKLA:NM_173642:exon5:c.T1047C:p.S349S;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3433;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.5173;1000g2015aug_all=0.489417;esp6500siv2_all=0.6026;ExAC_ALL=0.5800;ExAC_AFR=0.5336;ExAC_AMR=0.5578;ExAC_EAS=0.3624;ExAC_FIN=0.6620;ExAC_NFE=0.6378;ExAC_OTH=0.6200;ExAC_SAS=0.4703;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3745,354,0 1 42880866 rs2484436 G A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIMKLA;Func=UTR3;Gene=NM_173642;GeneDetail=NM_173642:c.*221G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431473.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2484436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9682;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 42898633 rs1011810 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1011810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.662;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.5965;1000g2015aug_all=0.649361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 42898671 rs2494376 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9971;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 42898843 rs1034268 A G 1941.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=exonic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZMYND12:NM_001146192:exon6:c.T616C:p.F206L,ZMYND12:NM_032257:exon7:c.T946C:p.F316L;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1034268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.662;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.5965;1000g2015aug_all=0.649361;esp6500siv2_all=0.6459;ExAC_ALL=0.6636;ExAC_AFR=0.5921;ExAC_AMR=0.5996;ExAC_EAS=0.6646;ExAC_FIN=0.6710;ExAC_NFE=0.6665;ExAC_OTH=0.6542;ExAC_SAS=0.7389;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.75;MutationAssessor_pred=N;FATHMM_score=-0.67;FATHMM_pred=T;phyloP100way_vertebrate=2.292;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=7.992;gerp++gt2=4.8;CADD=1.615;CADD_Phred=13.93;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1970,179,0 1 42901082 rs3748845 A C 716.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.898;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.261;SOR=0.725;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.236;1000g2015aug_amr=0.134;1000g2015aug_all=0.17472;esp6500siv2_all=0.1732;ExAC_ALL=0.1499;ExAC_AFR=0.2232;ExAC_AMR=0.1698;ExAC_EAS=0.2455;ExAC_FIN=0.0881;ExAC_NFE=0.1407;ExAC_OTH=0.1435;ExAC_SAS=0.1021;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,30:62:99:745,0,867 1 42901173 rs4660634 C T 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.904;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-2.043;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.233;1000g2015aug_amr=0.134;1000g2015aug_all=0.173922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:289,0,323 1 42914601 rs12409987 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12409987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.165;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.1441;1000g2015aug_all=0.180711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:66:66,0,110 1 42915527 rs12142723 C A 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.003;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.437;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.025;1000g2015aug_amr=0.2853;1000g2015aug_all=0.140176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:411,0,507 1 42915753 rs11210647 T C 747.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.091;DP=61;ExcessHet=3.0103;FS=1.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.86;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.3012;1000g2015aug_all=0.46246;esp6500siv2_all=0.3848;ExAC_ALL=0.3961;ExAC_AFR=0.4228;ExAC_AMR=0.3049;ExAC_EAS=0.6129;ExAC_FIN=0.2775;ExAC_NFE=0.3542;ExAC_OTH=0.3927;ExAC_SAS=0.5467;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,28:61:99:776,0,957 1 42921211 rs9786998 C G 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.566;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZMYND12;Func=intronic;Gene=NM_001146192,NM_032257;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372565.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2372\x3bName\x3e"97717:AluSq(SINE)";avsnp150=rs9786998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.2867;1000g2015aug_all=0.407348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:151,0,101 1 42925080 rs55861965 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-1.465;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPCS;Func=intronic;Gene=NM_001077447,NM_001287506,NM_001287507,NM_001287508,NM_001287509,NM_001287510,NM_001287511,NM_024664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372556.3,ENST00000372562.1,ENST00000372561.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2075\x3bName\x3e"97724:AluJb(SINE)";avsnp150=rs55861965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.3026;1000g2015aug_all=0.467652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 42939021 rs3748846 C G 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.379;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.946;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPCS;Func=UTR3;Gene=NM_001287511;GeneDetail=NM_001287511:c.*106C>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.1268;1000g2015aug_all=0.121805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:413,0,510 1 42948585 rs6656344 C A 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=0.389;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e9536\x3bdist\x3e51975;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.5219;1000g2015aug_amr=0.2983;1000g2015aug_all=0.480232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:272,0,173 1 42956001 rs72659920 G A 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.605;DP=12;ExcessHet=3.0103;FS=8.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.15;ReadPosRankSum=0.435;SOR=3.03;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e16952\x3bdist\x3e44559;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e714\x3bName\x3e"97798:FRAM(SINE)";avsnp150=rs72659920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.165;1000g2015aug_afr=0.056;1000g2015aug_amr=0.1239;1000g2015aug_all=0.120807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:89:306,0,89 1 42956034 rs72659921 A G 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.718;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=2.071;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e16985\x3bdist\x3e44526;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e714\x3bName\x3e"97798:FRAM(SINE)";avsnp150=rs72659921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.1268;1000g2015aug_all=0.122005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:97:264,0,97 1 42962800 rs3748841 A T 462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.857;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.396;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e23751\x3bdist\x3e37760;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507855.5,ENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:491,0,445 1 42965989 rs61591226 C G 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.667;DP=64;ExcessHet=3.0103;FS=2.069;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.122;SOR=0.985;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e26940\x3bdist\x3e34571;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507855.5,ENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61591226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.1268;1000g2015aug_all=0.122005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,31:64:99:699,0,799 1 42966037 rs2992346 T C 1920.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e26988\x3bdist\x3e34523;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507855.5,ENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2992346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1949,180,0 1 42966146 rs143816516 G A 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.276;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.719;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e27097\x3bdist\x3e34414;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2575\x3bName\x3e"97824:AluY(SINE)";avsnp150=rs143816516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:99:346,0,122 1 42968318 rs72659929 A G 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.77;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e29269\x3bdist\x3e32242;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1200\x3bName\x3e"97828:L1MB7(LINE)";avsnp150=rs72659929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 42968319 rs72659930 G A 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.8;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001287511,NM_001080850;GeneDetail=dist\x3e29270\x3bdist\x3e32241;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507855.5,ENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1200\x3bName\x3e"97828:L1MB7(LINE)";avsnp150=rs72659930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 43002347 rs72659956 A G 1001.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.095;DP=74;ExcessHet=3.0103;FS=2.486;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.411;SOR=0.338;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000507855.5,ENST00000428554.6,ENST00000342022.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72659956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.059;1000g2015aug_amr=0.1268;1000g2015aug_all=0.121605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,37:74:99:1030,0,1115 1 43002358 rs72659958 A G 805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.969;DP=61;ExcessHet=3.0103;FS=6.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.873;SOR=0.167;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000342022.8,ENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72659958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,31:61:99:834,0,931 1 43002744 rs4660643 G A 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=35;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.008;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000507855.5,ENST00000428554.6,ENST00000342022.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.2968;1000g2015aug_all=0.464856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,18:35:99:498,0,469 1 43008769 rs12411236 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507855.5,ENST00000428554.6,ENST00000342022.8,ENST00000340612.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1489\x3bName\x3e"97915:AluSx3(SINE)";avsnp150=rs12411236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.163;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1282;1000g2015aug_all=0.128594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43011389 rs6661835 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342022.8,ENST00000507855.5,ENST00000428554.6,ENST00000340612.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1925\x3bName\x3e"97924:AluJb(SINE)";avsnp150=rs6661835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.2997;1000g2015aug_all=0.480032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:80:81,0,80 1 43021810 rs12038786 C T 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.792;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.234;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000428554.6,ENST00000507855.5,ENST00000342022.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12038786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.2983;1000g2015aug_all=0.459864;esp6500siv2_all=0.3758;ExAC_ALL=0.3952;ExAC_AFR=0.4228;ExAC_AMR=0.3046;ExAC_EAS=0.6114;ExAC_FIN=0.2443;ExAC_NFE=0.3540;ExAC_OTH=0.3921;ExAC_SAS=0.5609;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,24:53:99:640,0,645 1 43046716 rs1016545 G T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342022.8,ENST00000507855.5,ENST00000428554.6,ENST00000340612.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1336\x3bName\x3e"98009:AluJb(SINE)";avsnp150=rs1016545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.162;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.1239;1000g2015aug_all=0.115615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 43055243 rs10789417 C G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342022.8,ENST00000507855.5,ENST00000428554.6,ENST00000340612.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10789417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.7375;1000g2015aug_amr=0.5922;1000g2015aug_all=0.665136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 43066555 rs6695792 T C 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000342022.8,ENST00000428554.6,ENST00000507855.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2127\x3bName\x3e"98058:MSTA(LTR)";avsnp150=rs6695792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.5735;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 43066594 rs12116637 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000428554.6,ENST00000507855.5,ENST00000342022.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2127\x3bName\x3e"98058:MSTA(LTR)";avsnp150=rs12116637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.2752;1000g2015aug_all=0.138179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:72,0,71 1 43066699 rs6695975 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000428554.6,ENST00000507855.5,ENST00000342022.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2127\x3bName\x3e"98058:MSTA(LTR)";avsnp150=rs6695975;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.5735;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 43110276 rs7523056 G A 490.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.55;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340612.4,ENST00000342022.8,ENST00000507855.5,ENST00000428554.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6438;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.5663;1000g2015aug_all=0.669129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:519,39,0 1 43118882 rs11210691 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC30;Func=intronic;Gene=NM_001080850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342022.8,ENST00000428554.6,ENST00000507855.5,ENST00000340612.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e263\x3bName\x3e"98196:HAL1ME(LINE)";avsnp150=rs11210691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.4121;1000g2015aug_all=0.424521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 43123855 rs12145700 C T 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001330510,NM_006347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.3084;1000g2015aug_all=0.233626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 43124701 rs6600419 A G 3981.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.54;SOR=3.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIH;Func=intronic;Gene=NM_001330510,NM_006347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372549.1,ENST00000372550.5,ENST00000304979.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6600419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.5389;1000g2015aug_all=0.601038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,105:105:99:4010,315,0 1 43124859 rs3738494 C T 1690.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIH;Func=intronic;Gene=NM_001330510,NM_006347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372549.1,ENST00000304979.7,ENST00000372550.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.5461;1000g2015aug_all=0.636781;esp6500siv2_all=0.6143;ExAC_ALL=0.6196;ExAC_AFR=0.6509;ExAC_AMR=0.5815;ExAC_EAS=0.6563;ExAC_FIN=0.5940;ExAC_NFE=0.5991;ExAC_OTH=0.6211;ExAC_SAS=0.7007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1719,150,0 1 43126733 rs3768025 G A 1102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.591;DP=90;ExcessHet=3.0103;FS=4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.799;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIH;Func=intronic;Gene=NM_001330510,NM_006347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304979.7,ENST00000372550.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.33;1000g2015aug_all=0.266573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,46:90:99:1131,0,1125 1 43126766 rs3768026 C A 726.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.536;DP=67;ExcessHet=3.0103;FS=2.1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.959;SOR=1.017;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIH;Func=intronic;Gene=NM_001330510,NM_006347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372550.5,ENST00000304979.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.33;1000g2015aug_all=0.26857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,30:67:99:755,0,1026 1 43166284 rs866752338 C G 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYBX1;Func=intronic;Gene=NM_004559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616651.4,ENST00000321358.11;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs866752338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 43200526 rs912075 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLDN19;Func=UTR3;Gene=NM_001123395,NM_001185117,NM_148960;GeneDetail=NM_001123395:c.*1013A>G\x3bNM_001185117:c.*907A>G\x3bNM_148960:c.*231A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296387.5,ENST00000539749.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912075;cosmic70=.;CLNALLELEID=280544;CLNDN=Renal_Hypomagnesemia,_Recessive;CLNDISDB=MedGen:CN239444;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.6239;1000g2015aug_all=0.606829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 43201216 rs12141833 A C 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.91;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLDN19;Func=UTR3;Gene=NM_001123395,NM_001185117;GeneDetail=NM_001123395:c.*323T>G\x3bNM_001185117:c.*217T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539749.5,ENST00000296387.5,ENST00000372539.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e191\x3bName\x3e"98389:L2b(LINE)";avsnp150=rs12141833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.6095;1000g2015aug_all=0.556909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 43201534 rs4660658 G A 680.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.466;DP=48;ExcessHet=3.0103;FS=3.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLDN19;Func=exonic;Gene=NM_001185117;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLDN19:NM_001185117:exon3:c.C556T:p.R186C;Gencode=Name\x3eENST00000372539.3,ENST00000296387.5,ENST00000539749.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660658;cosmic70=.;CLNALLELEID=282537;CLNDN=Renal_Hypomagnesemia,_Recessive;CLNDISDB=MedGen:CN239444;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.162;1000g2015aug_afr=0.2451;1000g2015aug_amr=0.2104;1000g2015aug_all=0.190495;esp6500siv2_all=0.1817;ExAC_ALL=0.2648;ExAC_AFR=0.3086;ExAC_AMR=0.4433;ExAC_EAS=0.3793;ExAC_FIN=0.3405;ExAC_NFE=0.2813;ExAC_OTH=0.2746;ExAC_SAS=0.1476;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.07;FATHMM_pred=D;phyloP100way_vertebrate=0.483;phyloP20way_mammalian=-0.399;SiPhy_29way_logOdds=4.912;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,24:48:99:709,0,757 1 43212869 rs3738496 A T 1956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.046;DP=177;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-1.696;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=exonic;Gene=NM_001243246;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=P3H1:NM_001243246:exon14:c.T2129A:p.F710Y;Gencode=Name\x3eENST00000236040.8,ENST00000296388.9,ENST00000397054.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.1585;1000g2015aug_all=0.121006;esp6500siv2_all=0.1053;ExAC_ALL=0.1234;ExAC_AFR=0.0762;ExAC_AMR=0.2151;ExAC_EAS=0.2476;ExAC_FIN=0.0901;ExAC_NFE=0.1147;ExAC_OTH=0.1247;ExAC_SAS=0.0719;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.021;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_pred=T;phyloP100way_vertebrate=0.242;phyloP20way_mammalian=-0.335;SiPhy_29way_logOdds=1.552;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:99,78:177:99:1985,0,2552 1 43213499 rs3738499 C T 3199.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236040.8,ENST00000296388.9,ENST00000397054.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.32;1000g2015aug_amr=0.598;1000g2015aug_all=0.554113;esp6500siv2_all=0.5174;ExAC_ALL=0.5969;ExAC_AFR=0.3632;ExAC_AMR=0.6261;ExAC_EAS=0.6697;ExAC_FIN=0.5918;ExAC_NFE=0.5955;ExAC_OTH=0.6046;ExAC_SAS=0.6930;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3228,309,0 1 43213610 rs7552138 T C 937.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296388.9,ENST00000397054.7,ENST00000236040.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7093;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7147;1000g2015aug_all=0.751997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:966,72,0 1 43213797 rs3738500 A G 785.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.008;DP=40;ExcessHet=3.0103;FS=4.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=1.036;SOR=1.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397054.7,ENST00000296388.9,ENST00000236040.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.1585;1000g2015aug_all=0.121206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,24:40:99:814,0,468 1 43227867 rs2760070 G A 932.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000397054.7,ENST00000296388.9,ENST00000236040.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e970\x3bName\x3e"98434:AluJr4(SINE)";avsnp150=rs2760070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.7017;1000g2015aug_all=0.717452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:961,69,0 1 43228189 rs2816593 T A 1544.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=2.935;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000296388.9,ENST00000397054.7,ENST00000236040.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2816593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9928;1000g2015aug_all=0.99361;esp6500siv2_all=0.9885;ExAC_ALL=0.9857;ExAC_AFR=0.9972;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=0.9660;ExAC_NFE=0.9803;ExAC_OTH=0.9923;ExAC_SAS=0.9924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1573,134,0 1 43231692 rs60903408 C A 53.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-1.383;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eP3H1;Func=intronic;Gene=NM_001146289,NM_001243246,NM_022356;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236040.8,ENST00000296388.9,ENST00000397054.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60903408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.1237;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.1844;1000g2015aug_all=0.13778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:82:82,0,327 1 43232798 rs11210712 G T 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.609;DP=28;ExcessHet=3.0103;FS=1.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001146289,NM_001243246,NM_022356,NM_024097;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.062;1000g2015aug_amr=0.255;1000g2015aug_all=0.138379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:446,0,337 1 43232807 rs3738504 C G 1059.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001146289,NM_001243246,NM_022356,NM_024097;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.6239;1000g2015aug_all=0.649561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:81:1088,81,0 1 43232984 rs200116115 T C 451.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.066;DP=40;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.055;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf50;Func=exonic;Gene=NM_024097;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf50:NM_024097:exon1:c.T2C:p.M1T;Gencode=Name\x3eENST00000372525.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200116115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=0.0002;ExAC_ALL=0.0024;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0047;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.073;LRT_pred=N;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.85;FATHMM_pred=T;phyloP100way_vertebrate=0.872;phyloP20way_mammalian=1.049;SiPhy_29way_logOdds=6.563;gerp++gt2=3.68;CADD=4.782;CADD_Phred=24.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:480,0,644 1 43233484 rs61775634 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf50;Func=intronic;Gene=NM_024097;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372525.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61775634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.2522;1000g2015aug_all=0.127796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 43239395 rs2760075 G A 1082.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=2.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf50;Func=intronic;Gene=NM_024097;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372525.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2760075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.6499;1000g2015aug_all=0.71226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1111,105,0 1 43240667 rs144450463 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf50;Func=intronic;Gene=NM_024097;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372525.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144450463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 43263435 rs17381636 G T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.04;ReadPosRankSum=-0.962;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100129924;Func=intronic;Gene=NM_001242750;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536543.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17381636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0409;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0251597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,5:20:99:149,0,466 1 43279094 rs323714 T C 737.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSVBP;Func=intronic;Gene=NM_199342;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372521.8,ENST00000372522.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs323714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.6484;1000g2015aug_all=0.710463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:766,72,0 1 43279132 rs323713 C T 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.117;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.667;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSVBP;Func=intronic;Gene=NM_199342;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372522.5,ENST00000372521.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs323713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.4213;1000g2015aug_amr=0.2911;1000g2015aug_all=0.261581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:276,0,383 1 43296173 rs33950227 C T 693.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.809;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.178;SOR=0.6;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=exonic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ERMAP:NM_018538:exon2:c.C54T:p.L18L,ERMAP:NM_001017922:exon3:c.C54T:p.L18L;Gencode=Name\x3eENST00000372517.6,ENST00000328249.3,ENST00000372514.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs33950227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.2579;1000g2015aug_all=0.146366;esp6500siv2_all=0.2014;ExAC_ALL=0.2226;ExAC_AFR=0.1126;ExAC_AMR=0.2738;ExAC_EAS=0.0168;ExAC_FIN=0.3550;ExAC_NFE=0.2550;ExAC_OTH=0.2291;ExAC_SAS=0.1797;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:722,0,913 1 43296195 rs33953680 C T 732.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.176;DP=75;ExcessHet=3.0103;FS=3.165;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.291;SOR=0.987;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=exonic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ERMAP:NM_018538:exon2:c.C76T:p.H26Y,ERMAP:NM_001017922:exon3:c.C76T:p.H26Y;Gencode=Name\x3eENST00000372517.6,ENST00000328249.3,ENST00000372514.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs33953680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.2723;1000g2015aug_all=0.142372;esp6500siv2_all=0.2074;ExAC_ALL=0.2414;ExAC_AFR=0.0597;ExAC_AMR=0.2886;ExAC_EAS=0.0170;ExAC_FIN=0.3735;ExAC_NFE=0.2876;ExAC_OTH=0.2467;ExAC_SAS=0.2007;SIFT_score=0.638;SIFT_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.657;Polyphen2_HVAR_pred=P;LRT_score=0.247;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.9;FATHMM_pred=T;phyloP100way_vertebrate=-0.177;phyloP20way_mammalian=-0.717;SiPhy_29way_logOdds=8.39;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,31:75:99:761,0,1158 1 43297082 rs17386017 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328249.3,ENST00000372514.7,ENST00000372517.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17386017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.2767;1000g2015aug_all=0.158147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43299835 rs7540604 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372517.6,ENST00000328249.3,ENST00000372514.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.531;1000g2015aug_amr=0.83;1000g2015aug_all=0.660343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 43300663 rs4660672 T C 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.025;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372517.6,ENST00000328249.3,ENST00000414798.1,ENST00000372514.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.5575;1000g2015aug_amr=0.6729;1000g2015aug_all=0.582468;esp6500siv2_all=0.6661;ExAC_ALL=0.6670;ExAC_AFR=0.5640;ExAC_AMR=0.6600;ExAC_EAS=0.3756;ExAC_FIN=0.8099;ExAC_NFE=0.7280;ExAC_OTH=0.6600;ExAC_SAS=0.5853;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:268,0,527 1 43300921 rs4660673 C G 1550.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.562;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414798.1,ENST00000372514.7,ENST00000328249.3,ENST00000372517.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.683;1000g2015aug_eur=0.837;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.8573;1000g2015aug_all=0.747604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1579,144,0 1 43302515 rs11581978 A T 85.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.431;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372514.7,ENST00000414798.1,ENST00000328249.3,ENST00000372517.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11581978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.2118;1000g2015aug_all=0.114018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:114,0,65 1 43304368 rs35761132 C A 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.579;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.515;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERMAP;Func=intronic;Gene=NM_001017922,NM_018538;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414798.1,ENST00000372514.7,ENST00000416809.2,ENST00000328249.3,ENST00000372517.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35761132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.2147;1000g2015aug_all=0.114417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:244,0,316 1 43317793 rs9960 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF691;Func=UTR3;Gene=NM_001242739,NM_015911;GeneDetail=NM_001242739:c.*309G>A\x3bNM_015911:c.*309G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372507.5,ENST00000372508.7,ENST00000372506.5,ENST00000372504.5,ENST00000372502.5,ENST00000630961.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.162;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.2104;1000g2015aug_all=0.132188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 43332857 rs7549938 T C 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.503;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC339539;Func=ncRNA_intronic;Gene=NR_104171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e28564\x3bName\x3e"98675:HERVL-int(LTR)";avsnp150=rs7549938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.2824;1000g2015aug_all=0.321885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:111,0,145 1 43352685 rs6678503 A G 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC339539;Func=ncRNA_exonic;Gene=NR_104171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.7262;1000g2015aug_all=0.828874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 43352894 rs6600427 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC339539;Func=ncRNA_exonic;Gene=NR_104171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6600427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.264;1000g2015aug_amr=0.2795;1000g2015aug_all=0.308107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 43353134 rs6674019 G T 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.876;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=0.88;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC339539;Func=ncRNA_exonic;Gene=NR_104171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6674019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.2911;1000g2015aug_all=0.350639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:115,0,142 1 43353213 rs6600428 G A 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC339539;Func=ncRNA_exonic;Gene=NR_104171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6600428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 43356765 rs10789430 T C 328.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104171,NM_006516;GeneDetail=dist\x3e2302\x3bdist\x3e34281;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.939126\x3bName\x3echr7:140453059;Repeat=.;avsnp150=rs10789430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:357,33,0 1 43357600 rs1681855 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104171,NM_006516;GeneDetail=dist\x3e3137\x3bdist\x3e33446;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.902107\x3bName\x3echrX:40834799;Repeat=.;avsnp150=rs1681855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.7867;1000g2015aug_all=0.688299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43357803 rs2792600 G T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104171,NM_006516;GeneDetail=dist\x3e3340\x3bdist\x3e33243;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.902107\x3bName\x3echrX:40834799;Repeat=.;avsnp150=rs2792600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.2795;1000g2015aug_all=0.322085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,138 1 43418026 rs2297972 C T 3289.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.815;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A1;Func=intronic;Gene=NM_006516;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426263.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.6225;1000g2015aug_all=0.580671;esp6500siv2_all=0.6429;ExAC_ALL=0.7169;ExAC_AFR=0.4275;ExAC_AMR=0.6527;ExAC_EAS=0.6859;ExAC_FIN=0.7568;ExAC_NFE=0.7626;ExAC_OTH=0.7437;ExAC_SAS=0.6910;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,102:102:99:3318,305,0 1 43428513 rs1013689913 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A1-AS1;Func=ncRNA_intronic;Gene=NR_033967;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431759.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"98850:(GGT)n(Simple_repeat)";avsnp150=rs1013689913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 43428518 . G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC2A1-AS1;Func=ncRNA_intronic;Gene=NR_033967;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431759.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"98850:(GGT)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 43451901 rs7515271 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033967,NM_001101376;GeneDetail=dist\x3e2872\x3bdist\x3e161693;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=Score\x3e0.918678\x3bName\x3echr22:41901063;Repeat=.;avsnp150=rs7515271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.4553;1000g2015aug_all=0.438898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 43455524 rs4660695 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033967,NM_001101376;GeneDetail=dist\x3e6495\x3bdist\x3e158070;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3348\x3bName\x3e"98937:L1MCa(LINE)";avsnp150=rs4660695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 43610910 rs626842 T G 1221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.48;DP=100;ExcessHet=3.0103;FS=0.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.186;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033967,NM_001101376;GeneDetail=dist\x3e161881\x3bdist\x3e2684;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000410048.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs626842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.857;1000g2015aug_amr=0.5058;1000g2015aug_all=0.524361;esp6500siv2_all=.;ExAC_ALL=0.4739;ExAC_AFR=0.7829;ExAC_AMR=0.4898;ExAC_EAS=0.3238;ExAC_FIN=0.5034;ExAC_NFE=0.4243;ExAC_OTH=0.4592;ExAC_SAS=0.4742;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,51:100:99:1250,0,1254 1 43611005 rs627263 G A 1202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.105;DP=92;ExcessHet=3.0103;FS=0.807;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.598;SOR=0.549;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033967,NM_001101376;GeneDetail=dist\x3e161976\x3bdist\x3e2589;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000410048.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs627263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1455;1000g2015aug_all=0.119808;esp6500siv2_all=.;ExAC_ALL=0.2184;ExAC_AFR=0.0716;ExAC_AMR=0.1849;ExAC_EAS=0;ExAC_FIN=0.2734;ExAC_NFE=0.2768;ExAC_OTH=0.2299;ExAC_SAS=0.2088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,45:92:99:1231,0,1210 1 43611230 rs641350 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033967,NM_001101376;GeneDetail=dist\x3e162201\x3bdist\x3e2364;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000410048.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs641350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.5575;1000g2015aug_amr=0.4251;1000g2015aug_all=0.403954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 43613786 rs519666 G T 1174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.734;DP=91;ExcessHet=3.0103;FS=0.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.494;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM183A;Func=intronic;Gene=NM_001101376;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335282.4,ENST00000410048.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs519666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.2017;1000g2015aug_all=0.165335;esp6500siv2_all=0.2518;ExAC_ALL=0.2579;ExAC_AFR=0.1819;ExAC_AMR=0.1951;ExAC_EAS=0.0008;ExAC_FIN=0.3169;ExAC_NFE=0.3150;ExAC_OTH=0.2722;ExAC_SAS=0.2238;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,49:91:99:1203,0,1019 1 43618596 rs12074551 G A 2554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.453;DP=204;ExcessHet=3.0103;FS=1.705;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.655;SOR=0.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM183A;Func=exonic;Gene=NM_001101376;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM183A:NM_001101376:exon3:c.G291A:p.E97E;Gencode=Name\x3eENST00000335282.4,ENST00000410048.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12074551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1455;1000g2015aug_all=0.119808;esp6500siv2_all=0.1911;ExAC_ALL=0.2376;ExAC_AFR=0.0823;ExAC_AMR=0.1329;ExAC_EAS=0.0006;ExAC_FIN=0.2822;ExAC_NFE=0.3006;ExAC_OTH=0.2493;ExAC_SAS=0.2231;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:104,100:204:99:2583,0,2661 1 43632536 rs7163 C T 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.681;DP=73;ExcessHet=3.0103;FS=2.095;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.93;ReadPosRankSum=0.102;SOR=0.462;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=exonic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EBNA1BP2:NM_006824:exon7:c.G668A:p.R223H,EBNA1BP2:NM_001159936:exon8:c.G833A:p.R278H;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1513;1000g2015aug_all=0.141374;esp6500siv2_all=0.2102;ExAC_ALL=0.2105;ExAC_AFR=0.1163;ExAC_AMR=0.0998;ExAC_EAS=0.0005;ExAC_FIN=0.2565;ExAC_NFE=0.2707;ExAC_OTH=0.2225;ExAC_SAS=0.1955;SIFT_score=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.864;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.357;Polyphen2_HVAR_pred=B;LRT_score=0.256;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.625;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_pred=T;phyloP100way_vertebrate=0.151;phyloP20way_mammalian=-1.161;SiPhy_29way_logOdds=1.375;gerp++gt2=.;CADD=1.028;CADD_Phred=10.82;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,22:73:99:461,0,1432 1 43632815 rs1749438 T G 805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.911;DP=37;ExcessHet=3.0103;FS=5.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.78;ReadPosRankSum=-1.135;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1513;1000g2015aug_all=0.140775;esp6500siv2_all=0.2104;ExAC_ALL=0.2105;ExAC_AFR=0.1170;ExAC_AMR=0.0996;ExAC_EAS=0.0005;ExAC_FIN=0.2563;ExAC_NFE=0.2705;ExAC_OTH=0.2225;ExAC_SAS=0.1956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,21:37:99:834,0,998 1 43632816 rs1782374 T C 805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.957;DP=37;ExcessHet=3.0103;FS=5.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.78;ReadPosRankSum=-1.165;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236051.2,ENST00000431635.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1513;1000g2015aug_all=0.140775;esp6500siv2_all=0.2107;ExAC_ALL=0.2104;ExAC_AFR=0.1170;ExAC_AMR=0.0998;ExAC_EAS=0.0005;ExAC_FIN=0.2563;ExAC_NFE=0.2705;ExAC_OTH=0.2225;ExAC_SAS=0.1956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,21:37:99:834,0,998 1 43632997 rs1691302 A G 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.987;DP=12;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.852;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1691302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1513;1000g2015aug_all=0.140775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:181,0,146 1 43634867 rs11210797 C T 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.504;DP=22;ExcessHet=3.0103;FS=5.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.23;SOR=0.081;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1513;1000g2015aug_all=0.140775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:276,0,342 1 43636484 rs1049276 C G 620.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.741;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=1.042;SOR=0.614;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=exonic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EBNA1BP2:NM_006824:exon4:c.G390C:p.T130T,EBNA1BP2:NM_001159936:exon5:c.G555C:p.T185T;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1049276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1513;1000g2015aug_all=0.140775;esp6500siv2_all=0.2108;ExAC_ALL=0.2106;ExAC_AFR=0.1170;ExAC_AMR=0.0998;ExAC_EAS=0.0005;ExAC_FIN=0.2565;ExAC_NFE=0.2708;ExAC_OTH=0.2225;ExAC_SAS=0.1956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,29:68:99:649,0,1084 1 43636692 rs1010621 T C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=1.122;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1010621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.1427;1000g2015aug_all=0.115815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,223 1 43636974 rs1010620 C T 350.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=32;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.529;SOR=0.361;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000236051.2;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1010620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1513;1000g2015aug_all=0.141773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:379,0,478 1 43637549 rs1691289 A G 307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.216;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.496;SOR=0.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=intronic;Gene=NM_001159936,NM_006824;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236051.2,ENST00000431635.6;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1691289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1513;1000g2015aug_all=0.147764;esp6500siv2_all=0.2111;ExAC_ALL=0.2132;ExAC_AFR=0.1186;ExAC_AMR=0.0998;ExAC_EAS=0.0227;ExAC_FIN=0.2554;ExAC_NFE=0.2711;ExAC_OTH=0.2239;ExAC_SAS=0.2014;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:336,0,623 1 43637932 rs9519 T C 2267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.465;DP=173;ExcessHet=3.0103;FS=1.867;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.982;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEBNA1BP2;Func=UTR5;Gene=NM_006824;GeneDetail=NM_006824:c.-143A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431635.6,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1513;1000g2015aug_all=0.147564;esp6500siv2_all=0.2096;ExAC_ALL=0.2445;ExAC_AFR=0.1377;ExAC_AMR=0.1842;ExAC_EAS=0.0277;ExAC_FIN=0.4495;ExAC_NFE=0.3041;ExAC_OTH=0.2522;ExAC_SAS=0.2163;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,85:172:99:2296,0,2602 1 43638185 rs1782383 A G 188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.129;DP=31;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.74;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57,EBNA1BP2;Func=UTR5;Gene=NM_001159936;GeneDetail=NM_001159936:c.-93T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000431635.6,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1513;1000g2015aug_all=0.142372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,9:31:99:217,0,700 1 43638334 rs2934883 A T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.088;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.949;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8,ENST00000528956.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2934883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1513;1000g2015aug_all=0.142372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:149,0,179 1 43638410 rs1782386 G C 455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.022;DP=49;ExcessHet=3.0103;FS=2.809;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.343;SOR=0.315;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=UTR5;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=NM_001167965:c.-15G>C\x3bNM_001195831:c.-15G>C\x3bNM_152498:c.-15G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000528956.5,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1513;1000g2015aug_all=0.142372;esp6500siv2_all=0.2107;ExAC_ALL=0.2108;ExAC_AFR=0.1183;ExAC_AMR=0.0998;ExAC_EAS=0.0005;ExAC_FIN=0.2563;ExAC_NFE=0.2707;ExAC_OTH=0.2225;ExAC_SAS=0.1964;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,20:49:99:484,0,843 1 43638457 rs1782387 T A 534.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.176;DP=64;ExcessHet=3.0103;FS=2.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.207;SOR=0.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=exonic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP57:NM_001167965:exon2:c.T33A:p.V11V,CFAP57:NM_001195831:exon2:c.T33A:p.V11V,CFAP57:NM_152498:exon2:c.T33A:p.V11V;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8,ENST00000528956.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1782387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1513;1000g2015aug_all=0.142372;esp6500siv2_all=0.2101;ExAC_ALL=0.2109;ExAC_AFR=0.1177;ExAC_AMR=0.1000;ExAC_EAS=0.0005;ExAC_FIN=0.2564;ExAC_NFE=0.2709;ExAC_OTH=0.2225;ExAC_SAS=0.1965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,23:63:99:563,0,1012 1 43642988 rs12094101 G T 1065.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.033;DP=63;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-2.138;SOR=0.488;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1664\x3bName\x3e"99442:L2a(LINE)";avsnp150=rs12094101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1513;1000g2015aug_all=0.142372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,39:63:99:1094,0,711 1 43647253 rs201770048 G A 902.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.488;DP=70;ExcessHet=3.0103;FS=4.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.689;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=exonic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP57:NM_001167965:exon3:c.G206A:p.R69Q,CFAP57:NM_001195831:exon3:c.G206A:p.R69Q,CFAP57:NM_152498:exon3:c.G206A:p.R69Q;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8,ENST00000528956.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs201770048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0002;ExAC_ALL=0.0005;ExAC_AFR=9.621e-05;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0009;ExAC_OTH=0;ExAC_SAS=0.0002;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.927;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=2.65;MutationAssessor_pred=M;FATHMM_score=5.05;FATHMM_pred=T;phyloP100way_vertebrate=6.804;phyloP20way_mammalian=0.980;SiPhy_29way_logOdds=19.332;gerp++gt2=5.66;CADD=6.931;CADD_Phred=33;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,33:70:99:931,0,858 1 43649508 rs663824 A G 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.655;DP=49;ExcessHet=3.0103;FS=2.49;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.76;SOR=1.117;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=exonic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFAP57:NM_001167965:exon4:c.A721G:p.N241D,CFAP57:NM_001195831:exon4:c.A721G:p.N241D,CFAP57:NM_152498:exon4:c.A721G:p.N241D;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8,ENST00000528956.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs663824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.407;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.5101;1000g2015aug_all=0.520168;esp6500siv2_all=0.5178;ExAC_ALL=0.4499;ExAC_AFR=0.7761;ExAC_AMR=0.5360;ExAC_EAS=0.2788;ExAC_FIN=0.4531;ExAC_NFE=0.4064;ExAC_OTH=0.4680;ExAC_SAS=0.4471;SIFT_score=0.453;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.268;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=3.31;FATHMM_pred=T;phyloP100way_vertebrate=0.635;phyloP20way_mammalian=-1.119;SiPhy_29way_logOdds=2.883;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:578,0,799 1 43650741 rs598336 T C 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.185;DP=16;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.668;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs598336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.4669;1000g2015aug_all=0.473043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:220,0,218 1 43652369 rs6413971 T C 2985.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.261;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6413971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9879;1000g2015aug_amr=1;1000g2015aug_all=0.996805;esp6500siv2_all=0.9966;ExAC_ALL=0.9992;ExAC_AFR=0.9906;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3014,293,0 1 43663376 rs513009 A G 1067.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs513009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.7597;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.7378;1000g2015aug_all=0.71885;esp6500siv2_all=0.8061;ExAC_ALL=0.8344;ExAC_AFR=0.5786;ExAC_AMR=0.6822;ExAC_EAS=0.7218;ExAC_FIN=0.8721;ExAC_NFE=0.9232;ExAC_OTH=0.8381;ExAC_SAS=0.7872;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1096,105,0 1 43664119 rs603560 A G 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.712;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.2089;1000g2015aug_all=0.200879;esp6500siv2_all=0.2730;ExAC_ALL=0.2531;ExAC_AFR=0.2541;ExAC_AMR=0.1950;ExAC_EAS=0.0007;ExAC_FIN=0.3058;ExAC_NFE=0.2977;ExAC_OTH=0.2695;ExAC_SAS=0.2239;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:212,0,261 1 43664218 rs603123 C T 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.948;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.257;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=exonic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP57:NM_001167965:exon8:c.C1329T:p.H443H,CFAP57:NM_001195831:exon8:c.C1329T:p.H443H,CFAP57:NM_152498:exon8:c.C1329T:p.H443H;Gencode=Name\x3eENST00000610710.4,ENST00000528956.5,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603123;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.2089;1000g2015aug_all=0.202077;esp6500siv2_all=0.2736;ExAC_ALL=0.2530;ExAC_AFR=0.2537;ExAC_AMR=0.1946;ExAC_EAS=0.0007;ExAC_FIN=0.3059;ExAC_NFE=0.2968;ExAC_OTH=0.2704;ExAC_SAS=0.2262;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:346,0,473 1 43667615 rs4660246 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000528956.5,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.836;1000g2015aug_afr=0.3033;1000g2015aug_amr=0.634;1000g2015aug_all=0.613019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 43672636 rs11210812 T G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.71;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000528956.5,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.4841;1000g2015aug_all=0.474241;esp6500siv2_all=0.4368;ExAC_ALL=0.5364;ExAC_AFR=0.2168;ExAC_AMR=0.4570;ExAC_EAS=0.7239;ExAC_FIN=0.5329;ExAC_NFE=0.5731;ExAC_OTH=0.5258;ExAC_SAS=0.5483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,150 1 43675467 rs2453412 G A 5239.77 PASS AC=2;AF=1;AN=2;DP=156;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=exonic;Gene=NM_001167965,NM_001195831,NM_152498;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFAP57:NM_001167965:exon11:c.G1809A:p.S603S,CFAP57:NM_001195831:exon11:c.G1809A:p.S603S,CFAP57:NM_152498:exon11:c.G1809A:p.S603S;Gencode=Name\x3eENST00000610710.4,ENST00000528956.5,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2453412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.6772;1000g2015aug_all=0.694888;esp6500siv2_all=0.7736;ExAC_ALL=0.7914;ExAC_AFR=0.5675;ExAC_AMR=0.5902;ExAC_EAS=0.7230;ExAC_FIN=0.8183;ExAC_NFE=0.8774;ExAC_OTH=0.7896;ExAC_SAS=0.7506;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,156:156:99:5268,468,0 1 43680680 rs585275 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3435\x3bName\x3e"99531:L1MD1(LINE)";avsnp150=rs585275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.6772;1000g2015aug_all=0.695288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43680855 rs4233492 G A 2643.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=2.239;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2672,216,0 1 43681184 rs612626 C T 2061.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.27;SOR=2.794;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs612626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.6772;1000g2015aug_all=0.695288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2090,171,0 1 43684804 rs1152769 C T 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e659\x3bName\x3e"99538:L2a(LINE)";avsnp150=rs1152769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.8833;1000g2015aug_all=0.86881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 43688077 rs11210815 A C 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.833;DP=17;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=-1.073;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"99545:L2a(LINE)";avsnp150=rs11210815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.1455;1000g2015aug_all=0.147165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:367,0,207 1 43688743 rs11585059 G A 68.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.718;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=-0.165;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.1427;1000g2015aug_all=0.146166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:97:97,0,264 1 43690228 rs4660250 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.8833;1000g2015aug_all=0.869409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 43692983 rs1152768 A T 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.189;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1152768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8889;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.5879;1000g2015aug_all=0.721246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:112,0,104 1 43697968 rs3120045 G A 658.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.66;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.5014;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:687,60,0 1 43699813 rs3820588 A G 835.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372492.8,ENST00000610710.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.6844;1000g2015aug_all=0.785743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:864,69,0 1 43699935 rs2477561 C T 3723.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=1.856;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=1;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=0.9992;ExAC_AFR=0.9880;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3752,332,0 1 43700140 rs2483688 A G 5982.77 PASS AC=2;AF=1;AN=2;DP=190;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP57;Func=intronic;Gene=NM_001195831;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610710.4,ENST00000372492.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2483688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.7046;1000g2015aug_all=0.796326;esp6500siv2_all=.;ExAC_ALL=0.8312;ExAC_AFR=0.7091;ExAC_AMR=0.7338;ExAC_EAS=0.9488;ExAC_FIN=0.8402;ExAC_NFE=0.8168;ExAC_OTH=0.7595;ExAC_SAS=0.8540;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,190:190:99:6011,569,0 1 43738340 rs10890247 A C 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.717;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.548;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM125;Func=UTR5;Gene=NM_001320244,NM_144626;GeneDetail=NM_001320244:c.-54A>C\x3bNM_144626:c.-54A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432792.6,ENST00000439858.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"99647:(CTGACCC)n(Simple_repeat)";avsnp150=rs10890247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.6182;1000g2015aug_all=0.60004;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:272,0,435 1 43748132 rs1198976 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf210;Func=UTR3;Gene=NM_001164829,NM_182517;GeneDetail=NM_001164829:c.*324T>C\x3bNM_182517:c.*324T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000523677.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e231\x3bName\x3e"99668:L2c(LINE)";avsnp150=rs1198976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9971;1000g2015aug_all=0.98762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43771090 rs3120044 G A 4082.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=2.113;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7,ENST00000538015.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.647;1000g2015aug_all=0.776558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:4111,360,0 1 43771660 rs3120122 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7,ENST00000538015.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.6427;1000g2015aug_all=0.767372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 43773033 rs2275180 A G 2802.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.55;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7,ENST00000538015.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.6542;1000g2015aug_all=0.80651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2831,231,0 1 43774292 rs1467808 C T 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.39;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7,ENST00000538015.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1467808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.6542;1000g2015aug_all=0.802716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 43774437 rs1467809 G A 965.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538015.1,ENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1467809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.6484;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:994,87,0 1 43774495 rs2282225 G C 1121.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.04;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538015.1,ENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.494;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.4971;1000g2015aug_all=0.586062;esp6500siv2_all=.;ExAC_ALL=0.5659;ExAC_AFR=0.5154;ExAC_AMR=0.5602;ExAC_EAS=0.7080;ExAC_FIN=0.5207;ExAC_NFE=0.4874;ExAC_OTH=0.5;ExAC_SAS=0.6818;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1150,96,0 1 43775477 rs6694318 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.495;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.5;1000g2015aug_all=0.605232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 43777852 rs1999595 C T 3817.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=1.956;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.6936;1000g2015aug_amr=0.8487;1000g2015aug_all=0.810503;esp6500siv2_all=0.8153;ExAC_ALL=0.8400;ExAC_AFR=0.7112;ExAC_AMR=0.8415;ExAC_EAS=0.8466;ExAC_FIN=0.8552;ExAC_NFE=0.8561;ExAC_OTH=0.8181;ExAC_SAS=0.8496;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:3846,286,0 1 43777855 rs35909386 C T 1606.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=4.058;DP=96;ExcessHet=3.0103;FS=9.272;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.572;SOR=1.65;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35909386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.036;1000g2015aug_all=0.0275559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,47:96:99:1635,0,1436 1 43778894 rs140697464 G C 957.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.803;DP=84;ExcessHet=3.0103;FS=3.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.789;SOR=1.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=exonic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TIE1:NM_001253357:exon13:c.G1881C:p.G627G,TIE1:NM_005424:exon13:c.G2016C:p.G672G;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs140697464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0003;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0005;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,37:84:99:986,0,1251 1 43779564 rs3120276 T C 1590.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=0.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=exonic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TIE1:NM_001253357:exon14:c.T2199C:p.A733A,TIE1:NM_005424:exon14:c.T2334C:p.A778A;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.879;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.6427;1000g2015aug_all=0.803115;esp6500siv2_all=0.6926;ExAC_ALL=0.6994;ExAC_AFR=0.8610;ExAC_AMR=0.7060;ExAC_EAS=0.8860;ExAC_FIN=0.6601;ExAC_NFE=0.6185;ExAC_OTH=0.6685;ExAC_SAS=0.8395;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1619,153,0 1 43779869 rs2991990 T G 410.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e591\x3bName\x3e"99726:MamGypLTR2c(LTR)";avsnp150=rs2991990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.6427;1000g2015aug_all=0.790535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:439,39,0 1 43782846 rs1198982 G A 1304.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1198982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.6412;1000g2015aug_all=0.80012;esp6500siv2_all=0.6911;ExAC_ALL=0.6981;ExAC_AFR=0.8632;ExAC_AMR=0.7084;ExAC_EAS=0.8749;ExAC_FIN=0.6595;ExAC_NFE=0.6178;ExAC_OTH=0.6626;ExAC_SAS=0.8346;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1333,108,0 1 43786715 rs71654284 A C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.2;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1794\x3bName\x3e"99741:AluJb(SINE)";avsnp150=rs71654284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 43786721 rs77603098 A C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1794\x3bName\x3e"99741:AluJb(SINE)";avsnp150=rs77603098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 43787437 rs11210834 A G 884.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.467;DP=43;ExcessHet=3.0103;FS=3.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.58;ReadPosRankSum=-0.345;SOR=2.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.2421;1000g2015aug_all=0.264776;esp6500siv2_all=0.1944;ExAC_ALL=0.2545;ExAC_AFR=0.1733;ExAC_AMR=0.2451;ExAC_EAS=0.4162;ExAC_FIN=0.45;ExAC_NFE=0.2415;ExAC_OTH=0.2396;ExAC_SAS=0.2847;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,25:43:99:913,0,545 1 43788172 rs839997 T C 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.434;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.078;SOR=0.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIE1;Func=intronic;Gene=NM_001253357,NM_005424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372476.7;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6868;1000g2015aug_amr=0.6412;1000g2015aug_all=0.594249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,253 1 43826312 rs710251 C A 1655.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.511;DP=160;ExcessHet=3.0103;FS=2.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.255;SOR=0.594;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC20;Func=intronic;Gene=NM_001255;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310955.10,ENST00000372462.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs710251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.6427;1000g2015aug_all=0.596046;esp6500siv2_all=0.6644;ExAC_ALL=0.6218;ExAC_AFR=0.6740;ExAC_AMR=0.5793;ExAC_EAS=0.5474;ExAC_FIN=0.6881;ExAC_NFE=0.6564;ExAC_OTH=0.6316;ExAC_SAS=0.4907;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,65:160:99:1684,0,2742 1 43831545 rs3768048 C T 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELOVL1;Func=intronic;Gene=NM_001256399,NM_001256401,NM_001256402,NM_022821;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372458.7,ENST00000413844.3,ENST00000621943.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"99839:(CCTCT)n(Simple_repeat)";avsnp150=rs3768048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1499;1000g2015aug_all=0.0900559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 43855578 rs839753 G C 1213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.713;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.656;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=UTR5;Gene=NM_015284;GeneDetail=NM_015284:c.-62G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372450.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.6484;1000g2015aug_all=0.596645;esp6500siv2_all=0.6605;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,49:101:99:1242,0,1415 1 43881941 rs1999674 A G 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.49;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=intronic;Gene=NM_015284;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000562955.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5119;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.6455;1000g2015aug_all=0.594249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:164,0,373 1 43903695 rs2842182 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.703;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=intronic;Gene=NM_015284;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000562955.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"99967:MIRb(SINE)";avsnp150=rs2842182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.647;1000g2015aug_all=0.596246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 43904404 rs112461557 A G 708.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.007;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.941;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=exonic;Gene=NM_015284;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SZT2:NM_015284:exon46:c.A6372G:p.L2124L;Gencode=Name\x3eENST00000562955.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112461557;cosmic70=ID\x3eCOSM3689704,COSM3689706,COSM3689705\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=249947;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00119808;esp6500siv2_all=0.0046;ExAC_ALL=0.0050;ExAC_AFR=0.0012;ExAC_AMR=0.0021;ExAC_EAS=0.0002;ExAC_FIN=0.0131;ExAC_NFE=0.0068;ExAC_OTH=0.0022;ExAC_SAS=0.0016;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,28:65:99:737,0,1016 1 43907092 rs12407785 G A 2091.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.631;DP=135;ExcessHet=3.0103;FS=0.636;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.61;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=intronic;Gene=NM_015284;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000562955.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.2118;1000g2015aug_all=0.209665;esp6500siv2_all=0.1478;ExAC_ALL=0.2204;ExAC_AFR=0.0422;ExAC_AMR=0.2415;ExAC_EAS=0.4132;ExAC_FIN=0.2465;ExAC_NFE=0.2025;ExAC_OTH=0.2201;ExAC_SAS=0.2808;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,73:135:99:2120,0,1581 1 43916642 rs6954 T C 1532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.237;DP=132;ExcessHet=3.0103;FS=5.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.743;SOR=0.587;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSZT2;Func=UTR3;Gene=NM_015284;GeneDetail=NM_015284:c.*491T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000562955.1;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"99974:MIR3(SINE)";avsnp150=rs6954;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.6282;1000g2015aug_all=0.584864;esp6500siv2_all=0.6373;ExAC_ALL=0.5867;ExAC_AFR=0.6865;ExAC_AMR=0.5623;ExAC_EAS=0.5342;ExAC_FIN=0.6218;ExAC_NFE=0.6082;ExAC_OTH=0.6010;ExAC_SAS=0.4836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,59:131:99:1561,0,1848 1 43919413 rs6692611 A G 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.741;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.442;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYI,SZT2;Func=exonic;Gene=NM_001190880,NM_001243526,NM_001330526,NM_031207;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HYI:NM_001190880:exon1:c.T52C:p.S18P,HYI:NM_001243526:exon1:c.T52C:p.S18P,HYI:NM_001330526:exon1:c.T52C:p.S18P,HYI:NM_031207:exon1:c.T52C:p.S18P;Gencode=Name\x3eENST00000372432.5,ENST00000486909.1,ENST00000583037.5,ENST00000372434.5,ENST00000372425.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6692611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.647;1000g2015aug_all=0.595847;esp6500siv2_all=.;ExAC_ALL=0.7182;ExAC_AFR=0.7416;ExAC_AMR=0.6844;ExAC_EAS=0.6465;ExAC_FIN=0.7707;ExAC_NFE=0.7450;ExAC_OTH=0.7024;ExAC_SAS=0.6099;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.07;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;phyloP100way_vertebrate=0.444;phyloP20way_mammalian=-0.532;SiPhy_29way_logOdds=5.632;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,149 1 44010571 rs6695915 A G 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.602;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.632;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5,ENST00000617451.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.0634;1000g2015aug_all=0.139577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:100,0,259 1 44019313 rs144175107 G A 1290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.849;DP=76;ExcessHet=3.0103;FS=4.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.118;SOR=0.979;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5,ENST00000617451.4;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144175107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0026;ExAC_ALL=0.0021;ExAC_AFR=0.0003;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0011;ExAC_SAS=0.0008;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,43:75:99:1319,0,975 1 44019731 rs2842185 C T 672.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.289;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.7;ReadPosRankSum=0.62;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000617451.4,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.864;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.7666;1000g2015aug_all=0.813898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,20:31:99:701,0,364 1 44024484 rs11580074 A G 119.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000617451.4,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.572;1000g2015aug_all=0.677117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:148,18,0 1 44035352 rs1065771 C T 1275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.627;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.1;SOR=0.623;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329139:exon6:c.C471T:p.A157A,PTPRF:NM_001329140:exon6:c.C471T:p.A157A,PTPRF:NM_002840:exon6:c.C471T:p.A157A,PTPRF:NM_130440:exon6:c.C471T:p.A157A,PTPRF:NM_001329137:exon7:c.C471T:p.A157A,PTPRF:NM_001329138:exon7:c.C471T:p.A157A;Gencode=Name\x3eENST00000617451.4,ENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1065771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.2363;1000g2015aug_all=0.222045;esp6500siv2_all=0.2334;ExAC_ALL=0.2820;ExAC_AFR=0.0738;ExAC_AMR=0.2666;ExAC_EAS=0.3400;ExAC_FIN=0.3424;ExAC_NFE=0.3078;ExAC_OTH=0.2742;ExAC_SAS=0.2660;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,43:92:99:1304,0,1198 1 44035472 rs943513 G A 744.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.116;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.986;SOR=0.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000617451.4,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs943513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.2464;1000g2015aug_all=0.249401;esp6500siv2_all=0.3443;ExAC_ALL=0.3260;ExAC_AFR=0.3068;ExAC_AMR=0.2026;ExAC_EAS=0.2242;ExAC_FIN=0.3924;ExAC_NFE=0.3836;ExAC_OTH=0.3381;ExAC_SAS=0.1873;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,29:52:99:773,0,660 1 44041744 rs45605334 C T 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617451.4,ENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45605334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.0562;1000g2015aug_eur=0.0726;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0832668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 44044468 rs11210874 C T 1132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.474;DP=102;ExcessHet=3.0103;FS=1.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.122;SOR=0.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617451.4,ENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.087;1000g2015aug_amr=0.2406;1000g2015aug_all=0.270767;esp6500siv2_all=0.2546;ExAC_ALL=0.3061;ExAC_AFR=0.1142;ExAC_AMR=0.2737;ExAC_EAS=0.4220;ExAC_FIN=0.3235;ExAC_NFE=0.3205;ExAC_OTH=0.2894;ExAC_SAS=0.3271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,45:102:99:1161,0,1700 1 44045465 rs2004899 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2385\x3bName\x3e"100233:AluSc5(SINE)";avsnp150=rs2004899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.5828;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.549;1000g2015aug_all=0.626597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 44056333 rs2117314 A G 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2117314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 44056462 rs2117315 T C 375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.382;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.772;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2117315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.2536;1000g2015aug_all=0.333267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:404,0,388 1 44057257 rs2304353 A G 571.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.509;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.264;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2304353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.282548;esp6500siv2_all=0.2250;ExAC_ALL=0.3468;ExAC_AFR=0.1239;ExAC_AMR=0.3454;ExAC_EAS=0.5034;ExAC_FIN=0.4581;ExAC_NFE=0.3682;ExAC_OTH=0.2403;ExAC_SAS=0.3375;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:600,0,637 1 44057668 rs7540068 G T 1491.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.578;DP=104;ExcessHet=3.0103;FS=4.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.408;SOR=1.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281749;esp6500siv2_all=0.2479;ExAC_ALL=0.3067;ExAC_AFR=0.0997;ExAC_AMR=0.2720;ExAC_EAS=0.4969;ExAC_FIN=0.3393;ExAC_NFE=0.3180;ExAC_OTH=0.2817;ExAC_SAS=0.3012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,56:104:99:1520,0,1147 1 44057696 rs7553297 A G 1073.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.497;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.601;SOR=0.623;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,40:72:99:1102,0,870 1 44057882 rs3748797 A T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.712;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 44057950 rs573350 T C 597.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.5818;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.587;1000g2015aug_amr=0.5533;1000g2015aug_all=0.650958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:626,45,0 1 44058034 rs2117316 G A 830.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.251;DP=43;ExcessHet=3.0103;FS=1.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.32;ReadPosRankSum=0.088;SOR=1.155;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2117316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,27:43:99:859,0,439 1 44058265 rs3828151 C A 874.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.456;DP=47;ExcessHet=3.0103;FS=7.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=0.752;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.317;1000g2015aug_all=0.446486;esp6500siv2_all=0.4217;ExAC_ALL=0.4199;ExAC_AFR=0.4642;ExAC_AMR=0.3223;ExAC_EAS=0.5746;ExAC_FIN=0.4258;ExAC_NFE=0.4044;ExAC_OTH=0.4052;ExAC_SAS=0.4424;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,31:47:99:903,0,459 1 44063250 rs562249 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs562249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.984824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 44064145 rs12069454 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12069454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2435;1000g2015aug_all=0.281749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 44064319 rs17849103 A G 824.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.178;DP=63;ExcessHet=3.0103;FS=4.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.241;SOR=0.304;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17849103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.3069;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,31:63:99:853,0,968 1 44067473 rs12059628 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.3069;1000g2015aug_all=0.394968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 44067859 rs12023161 A G 2307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.985;DP=180;ExcessHet=3.0103;FS=0.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-2.998;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12023161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.3069;1000g2015aug_all=0.394968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,92:179:99:2336,0,2402 1 44070032 rs530373 A G 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=-0.253;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs530373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.4496;1000g2015aug_all=0.607428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 44070691 rs17371903 A G 399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.323;DP=29;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.241;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17371903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.056;1000g2015aug_amr=0.2392;1000g2015aug_all=0.187101;esp6500siv2_all=0.2821;ExAC_ALL=0.3009;ExAC_AFR=0.0966;ExAC_AMR=0.1899;ExAC_EAS=0.2351;ExAC_FIN=0.3986;ExAC_NFE=0.3809;ExAC_OTH=0.3315;ExAC_SAS=0.1772;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:428,0,388 1 44071221 rs631248 G A 4405.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=0.908;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs631248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.5418;1000g2015aug_all=0.602436;esp6500siv2_all=0.6690;ExAC_ALL=0.6949;ExAC_AFR=0.4688;ExAC_AMR=0.5015;ExAC_EAS=0.7793;ExAC_FIN=0.7870;ExAC_NFE=0.7712;ExAC_OTH=0.7029;ExAC_SAS=0.5835;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,131:131:99:4434,393,0 1 44071796 rs618369 G T 510.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs618369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.67;1000g2015aug_afr=0.5961;1000g2015aug_amr=0.5058;1000g2015aug_all=0.60004;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:539,39,0 1 44071853 rs512579 T C 1070.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs512579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.9614;1000g2015aug_amr=0.6167;1000g2015aug_all=0.764177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1099,84,0 1 44072018 rs1065772 C T 1966.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.507;DP=154;ExcessHet=3.0103;FS=2.135;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.585;SOR=0.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon17:c.C2679T:p.T893T,PTPRF:NM_001329139:exon18:c.C2706T:p.T902T,PTPRF:NM_130440:exon19:c.C3564T:p.T1188T,PTPRF:NM_001329137:exon20:c.C2724T:p.T908T,PTPRF:NM_002840:exon20:c.C3591T:p.T1197T,PTPRF:NM_001329138:exon21:c.C2736T:p.T912T;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1065772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.268;1000g2015aug_all=0.278155;esp6500siv2_all=0.2628;ExAC_ALL=0.3235;ExAC_AFR=0.0817;ExAC_AMR=0.2875;ExAC_EAS=0.4829;ExAC_FIN=0.3924;ExAC_NFE=0.3490;ExAC_OTH=0.3095;ExAC_SAS=0.2882;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,73:153:99:1995,0,2405 1 44072066 rs10890266 C T 2393.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.098;DP=204;ExcessHet=3.0103;FS=0.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.949;SOR=0.65;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon17:c.C2727T:p.P909P,PTPRF:NM_001329139:exon18:c.C2754T:p.P918P,PTPRF:NM_130440:exon19:c.C3612T:p.P1204P,PTPRF:NM_001329137:exon20:c.C2772T:p.P924P,PTPRF:NM_002840:exon20:c.C3639T:p.P1213P,PTPRF:NM_001329138:exon21:c.C2784T:p.P928P;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.2752;1000g2015aug_all=0.28115;esp6500siv2_all=0.2710;ExAC_ALL=0.3300;ExAC_AFR=0.0782;ExAC_AMR=0.2955;ExAC_EAS=0.4824;ExAC_FIN=0.3837;ExAC_NFE=0.3587;ExAC_OTH=0.3117;ExAC_SAS=0.2971;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:106,97:203:99:2422,0,2841 1 44072420 rs539096 A G 845.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs539096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.5807;1000g2015aug_all=0.723043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:874,75,0 1 44075227 rs517622 T C 1729.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.75;SOR=2.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs517622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9654;1000g2015aug_all=0.985224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1758,147,0 1 44078359 rs3791149 T A 32.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.21;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3791149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.028;1000g2015aug_amr=0.245;1000g2015aug_all=0.266573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:61:61,0,194 1 44078384 rs499257 T C 429.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs499257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.4784;1000g2015aug_all=0.465256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:458,42,0 1 44078602 rs3791151 C A 207.82 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=-1.348;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3791151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.326;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.2248;1000g2015aug_all=0.177316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:19:236,0,19 1 44079411 rs603542 T C 2454.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=1.577;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.4784;1000g2015aug_all=0.470447;esp6500siv2_all=0.5350;ExAC_ALL=0.5844;ExAC_AFR=0.2637;ExAC_AMR=0.4521;ExAC_EAS=0.7117;ExAC_FIN=0.6616;ExAC_NFE=0.6673;ExAC_OTH=0.5861;ExAC_SAS=0.4463;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2483,216,0 1 44083015 rs653953 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.63;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs653953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.6437;1000g2015aug_amr=0.5086;1000g2015aug_all=0.595647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 44083110 rs571862 C T 1356.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs571862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.5764;1000g2015aug_all=0.73742;esp6500siv2_all=0.8052;ExAC_ALL=0.7191;ExAC_AFR=0.9245;ExAC_AMR=0.5141;ExAC_EAS=0.7871;ExAC_FIN=0.7423;ExAC_NFE=0.7496;ExAC_OTH=0.7124;ExAC_SAS=0.5655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1385,119,0 1 44083507 rs641365 T C 3386.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs641365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.5764;1000g2015aug_all=0.73722;esp6500siv2_all=0.8052;ExAC_ALL=0.7188;ExAC_AFR=0.9244;ExAC_AMR=0.5132;ExAC_EAS=0.7858;ExAC_FIN=0.7432;ExAC_NFE=0.7493;ExAC_OTH=0.7135;ExAC_SAS=0.5655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3415,318,0 1 44083519 rs641351 G A 3394.77 PASS AC=2;AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=0.786;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs641351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.5764;1000g2015aug_all=0.73722;esp6500siv2_all=0.8051;ExAC_ALL=0.7185;ExAC_AFR=0.9244;ExAC_AMR=0.5125;ExAC_EAS=0.7853;ExAC_FIN=0.7428;ExAC_NFE=0.7491;ExAC_OTH=0.7118;ExAC_SAS=0.5655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3423,331,0 1 44084739 rs1143701 C T 4986.77 PASS AC=2;AF=1;AN=2;DP=154;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1143701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.5764;1000g2015aug_all=0.73742;esp6500siv2_all=0.8051;ExAC_ALL=0.7192;ExAC_AFR=0.9245;ExAC_AMR=0.5135;ExAC_EAS=0.7866;ExAC_FIN=0.7420;ExAC_NFE=0.7497;ExAC_OTH=0.7137;ExAC_SAS=0.5662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,154:154:99:5015,462,0 1 44086080 rs568639 T C 1747.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs568639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.5749;1000g2015aug_all=0.73762;esp6500siv2_all=0.8059;ExAC_ALL=0.7227;ExAC_AFR=0.9244;ExAC_AMR=0.5124;ExAC_EAS=0.7863;ExAC_FIN=0.7432;ExAC_NFE=0.7498;ExAC_OTH=0.7165;ExAC_SAS=0.5655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1776,144,0 1 44086831 rs1143702 C T 4358.77 PASS AC=2;AF=1;AN=2;DP=135;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.033;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=exonic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y;Gencode=Name\x3eENST00000438120.5,ENST00000359947.8;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1143702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.5014;1000g2015aug_all=0.570487;esp6500siv2_all=0.6372;ExAC_ALL=0.6132;ExAC_AFR=0.5728;ExAC_AMR=0.4670;ExAC_EAS=0.7087;ExAC_FIN=0.6619;ExAC_NFE=0.6689;ExAC_OTH=0.6069;ExAC_SAS=0.4467;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,134:134:99:4387,404,0 1 44087496 rs673485 C T 3575.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=2.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRF;Func=intronic;Gene=NM_001329137,NM_001329138,NM_001329139,NM_001329140,NM_002840,NM_130440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359947.8,ENST00000438120.5;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs673485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.5865;1000g2015aug_all=0.742812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3604,312,0 1 44121155 rs76612941 G A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-1.981;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76612941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 44121557 rs2274465 C G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.18;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMenarche_(age_at_onset);1000g2015aug_eas=0.2302;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.2277;1000g2015aug_all=0.1873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 44133299 rs618678 C T 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=-0.272;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs618678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.232;1000g2015aug_all=0.247804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:370,0,202 1 44135231 rs3818536 T C 104.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"100426:L2b(LINE)";avsnp150=rs3818536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2406;1000g2015aug_all=0.286741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:132,12,0 1 44137257 rs586339 C A 3349.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=1.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=exonic;Gene=NM_014663;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KDM4A:NM_014663:exon11:c.C1445A:p.A482E;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs586339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.5591;1000g2015aug_all=0.740216;esp6500siv2_all=0.7943;ExAC_ALL=0.7111;ExAC_AFR=0.9262;ExAC_AMR=0.5041;ExAC_EAS=0.8116;ExAC_FIN=0.7344;ExAC_NFE=0.7309;ExAC_OTH=0.6940;ExAC_SAS=0.5758;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.615;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=2.050;phyloP20way_mammalian=0.242;SiPhy_29way_logOdds=11.697;gerp++gt2=4.34;CADD=1.602;CADD_Phred=13.86;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3378,288,0 1 44157699 rs116008588 A G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116008588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00259585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 44160058 rs3791037 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2329\x3bName\x3e"100472:AluSz(SINE)";avsnp150=rs3791037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.2795;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 44163886 rs3815268 G T 386.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM4A;Func=intronic;Gene=NM_014663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372396.3;cytoBand=1p34.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3815268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.2795;1000g2015aug_all=0.303514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:415,30,0 1 44258040 rs1502907 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531451.5,ENST00000361392.8,ENST00000330208.6,ENST00000372374.6,ENST00000361746.8,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000372372.6,ENST00000353126.7,ENST00000361400.8,ENST00000372367.5,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000531993.5,ENST00000372362.6,ENST00000372369.5,ENST00000528371.5,ENST00000332628.10,ENST00000533933.5,ENST00000372366.5,ENST00000351035.7,ENST00000361812.8,ENST00000372368.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1502907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.8184;1000g2015aug_all=0.886382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 44261208 rs11210925 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361392.8,ENST00000531451.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000353126.7,ENST00000372372.6,ENST00000545417.5,ENST00000262915.7,ENST00000372365.5,ENST00000361400.8,ENST00000372367.5,ENST00000372362.6,ENST00000531993.5,ENST00000531816.1,ENST00000347631.6,ENST00000335430.10,ENST00000372369.5,ENST00000528371.5,ENST00000332628.10,ENST00000372366.5,ENST00000533933.5,ENST00000361812.8,ENST00000372368.6,ENST00000351035.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.454;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.2867;1000g2015aug_all=0.375799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 44267619 rs12128485 C T 96.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528371.5,ENST00000332628.10,ENST00000372369.5,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000372362.6,ENST00000531993.5,ENST00000351035.7,ENST00000372368.6,ENST00000361812.8,ENST00000533933.5,ENST00000372366.5,ENST00000330208.6,ENST00000372374.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8,ENST00000372367.5,ENST00000361400.8,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000372372.6,ENST00000353126.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1614\x3bName\x3e"100758:AluJb(SINE)";avsnp150=rs12128485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.2853;1000g2015aug_all=0.363618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:125,15,0 1 44271656 rs812490 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000361392.8,ENST00000531451.5,ENST00000361400.8,ENST00000372367.5,ENST00000372372.6,ENST00000353126.7,ENST00000262915.7,ENST00000372365.5,ENST00000545417.5,ENST00000528371.5,ENST00000372369.5,ENST00000332628.10,ENST00000531993.5,ENST00000372362.6,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000351035.7,ENST00000361812.8,ENST00000372368.6,ENST00000372366.5,ENST00000533933.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"100766:AluSg(SINE)";avsnp150=rs812490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.33;1000g2015aug_all=0.488219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 44275686 rs12120287 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372369.5,ENST00000528371.5,ENST00000332628.10,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000372362.6,ENST00000531993.5,ENST00000351035.7,ENST00000361812.8,ENST00000372368.6,ENST00000533933.5,ENST00000372366.5,ENST00000330208.6,ENST00000372374.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8,ENST00000361400.8,ENST00000372367.5,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000372372.6,ENST00000353126.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2418\x3bName\x3e"100777:AluSz(SINE)";avsnp150=rs12120287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.2954;1000g2015aug_all=0.376797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 44275689 rs12123718 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361400.8,ENST00000372367.5,ENST00000372372.6,ENST00000353126.7,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000361746.8,ENST00000372374.6,ENST00000330208.6,ENST00000361392.8,ENST00000531451.5,ENST00000351035.7,ENST00000372368.6,ENST00000361812.8,ENST00000372366.5,ENST00000533933.5,ENST00000332628.10,ENST00000528371.5,ENST00000372369.5,ENST00000531993.5,ENST00000372362.6,ENST00000335430.10,ENST00000531816.1,ENST00000347631.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2418\x3bName\x3e"100777:AluSz(SINE)";avsnp150=rs12123718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.3112;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 44280381 rs37468 A T 524.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372362.6,ENST00000531993.5,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000528371.5,ENST00000372369.5,ENST00000332628.10,ENST00000372366.5,ENST00000533933.5,ENST00000372368.6,ENST00000361812.8,ENST00000351035.7,ENST00000361392.8,ENST00000531451.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000353126.7,ENST00000372372.6,ENST00000545417.5,ENST00000262915.7,ENST00000372365.5,ENST00000361400.8,ENST00000372367.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs37468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.8867;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.8228;1000g2015aug_all=0.885982;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:553,42,0 1 44280425 rs3791064 T G 1178.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=2.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000361392.8,ENST00000531451.5,ENST00000372367.5,ENST00000361400.8,ENST00000353126.7,ENST00000372372.6,ENST00000545417.5,ENST00000372365.5,ENST00000262915.7,ENST00000528371.5,ENST00000372369.5,ENST00000332628.10,ENST00000531993.5,ENST00000372362.6,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000372368.6,ENST00000361812.8,ENST00000351035.7,ENST00000372366.5,ENST00000533933.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3791064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.3012;1000g2015aug_all=0.404952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1207,105,0 1 44317545 rs3011222 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351035.7,ENST00000372368.6,ENST00000361812.8,ENST00000533933.5,ENST00000372366.5,ENST00000372369.5,ENST00000528371.5,ENST00000332628.10,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000372362.6,ENST00000531993.5,ENST00000361400.8,ENST00000372367.5,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000372372.6,ENST00000353126.7,ENST00000372374.6,ENST00000330208.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3011222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.502;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.4813;1000g2015aug_all=0.461262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 44323736 rs2906465 T C 1802.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.453;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528371.5,ENST00000332628.10,ENST00000372369.5,ENST00000335430.10,ENST00000531816.1,ENST00000347631.6,ENST00000372362.6,ENST00000531993.5,ENST00000351035.7,ENST00000361812.8,ENST00000372368.6,ENST00000533933.5,ENST00000372366.5,ENST00000372374.6,ENST00000330208.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8,ENST00000372367.5,ENST00000361400.8,ENST00000262915.7,ENST00000372365.5,ENST00000545417.5,ENST00000372372.6,ENST00000353126.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2906465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.773;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.8271;1000g2015aug_all=0.885783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1831,171,0 1 44324060 rs3011226 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351035.7,ENST00000361812.8,ENST00000372368.6,ENST00000372366.5,ENST00000533933.5,ENST00000528371.5,ENST00000332628.10,ENST00000372369.5,ENST00000531993.5,ENST00000372362.6,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000372367.5,ENST00000361400.8,ENST00000372372.6,ENST00000353126.7,ENST00000372365.5,ENST00000262915.7,ENST00000545417.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000361392.8,ENST00000531451.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3011226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.773;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.8271;1000g2015aug_all=0.885184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 44345292 rs2527776 G A 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372362.6,ENST00000531993.5,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000372369.5,ENST00000528371.5,ENST00000332628.10,ENST00000372366.5,ENST00000533933.5,ENST00000372368.6,ENST00000361812.8,ENST00000351035.7,ENST00000361392.8,ENST00000531451.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000353126.7,ENST00000372372.6,ENST00000545417.5,ENST00000262915.7,ENST00000372365.5,ENST00000361400.8,ENST00000372367.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2527776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.1006;1000g2015aug_amr=0.5836;1000g2015aug_all=0.463259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 44365529 rs783303 G A 875.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000531993.5,ENST00000372362.6,ENST00000528371.5,ENST00000332628.10,ENST00000372369.5,ENST00000533933.5,ENST00000372366.5,ENST00000361812.8,ENST00000372368.6,ENST00000351035.7,ENST00000531451.5,ENST00000361392.8,ENST00000372374.6,ENST00000330208.6,ENST00000361746.8,ENST00000545417.5,ENST00000372365.5,ENST00000262915.7,ENST00000353126.7,ENST00000372372.6,ENST00000361400.8,ENST00000372367.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs783303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.59;1000g2015aug_amr=0.8285;1000g2015aug_all=0.767372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:904,78,0 1 44366617 rs3791102 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353126.7,ENST00000372372.6,ENST00000545417.5,ENST00000262915.7,ENST00000372365.5,ENST00000372367.5,ENST00000361400.8,ENST00000361392.8,ENST00000531451.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6,ENST00000372366.5,ENST00000533933.5,ENST00000361812.8,ENST00000372368.6,ENST00000351035.7,ENST00000372362.6,ENST00000531993.5,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000528371.5,ENST00000332628.10,ENST00000372369.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3791102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.5994;1000g2015aug_all=0.483227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 44386305 rs3120802 C T 844.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545417.5,ENST00000372365.5,ENST00000262915.7,ENST00000353126.7,ENST00000372372.6,ENST00000372367.5,ENST00000361400.8,ENST00000531451.5,ENST00000361392.8,ENST00000372374.6,ENST00000330208.6,ENST00000361746.8,ENST00000533933.5,ENST00000372366.5,ENST00000372368.6,ENST00000361812.8,ENST00000351035.7,ENST00000531816.1,ENST00000347631.6,ENST00000335430.10,ENST00000531993.5,ENST00000372362.6,ENST00000528371.5,ENST00000332628.10,ENST00000372369.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.8487;1000g2015aug_all=0.7498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:873,66,0 1 44386615 rs3120803 A G 2777.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372366.5,ENST00000533933.5,ENST00000351035.7,ENST00000361812.8,ENST00000372368.6,ENST00000372362.6,ENST00000531993.5,ENST00000335430.10,ENST00000347631.6,ENST00000531816.1,ENST00000332628.10,ENST00000528371.5,ENST00000372369.5,ENST00000372372.6,ENST00000353126.7,ENST00000262915.7,ENST00000372365.5,ENST00000545417.5,ENST00000372367.5,ENST00000361400.8,ENST00000361392.8,ENST00000531451.5,ENST00000361746.8,ENST00000330208.6,ENST00000372374.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3120803;cosmic70=.;CLNALLELEID=249955;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.8602;1000g2015aug_all=0.809105;esp6500siv2_all=0.8504;ExAC_ALL=0.8813;ExAC_AFR=0.7050;ExAC_AMR=0.8445;ExAC_EAS=0.8484;ExAC_FIN=0.8921;ExAC_NFE=0.9213;ExAC_OTH=0.8775;ExAC_SAS=0.8674;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2806,255,0 1 44390033 rs112370138 C T 58.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332628.10,ENST00000528371.5,ENST00000372369.5,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000372362.6,ENST00000531993.5,ENST00000361812.8,ENST00000372368.6,ENST00000351035.7,ENST00000533933.5,ENST00000372366.5,ENST00000372374.6,ENST00000330208.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8,ENST00000361400.8,ENST00000372367.5,ENST00000545417.5,ENST00000262915.7,ENST00000372365.5,ENST00000353126.7,ENST00000372372.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112370138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0167732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:86,9,0 1 44395786 rs2108202 C T 4919.77 PASS AC=2;AF=1;AN=2;DP=157;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST3GAL3;Func=intronic;Gene=NM_001270459,NM_001270460,NM_001270461,NM_001270462,NM_001270463,NM_001270464,NM_001270465,NM_001270466,NM_001350619,NM_001350620,NM_001350621,NM_006279,NM_174963,NM_174964,NM_174965,NM_174966,NM_174967,NM_174968,NM_174969,NM_174970,NM_174971;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332628.10,ENST00000528371.5,ENST00000372369.5,ENST00000347631.6,ENST00000531816.1,ENST00000335430.10,ENST00000372362.6,ENST00000531993.5,ENST00000372368.6,ENST00000361812.8,ENST00000351035.7,ENST00000533933.5,ENST00000372366.5,ENST00000330208.6,ENST00000372374.6,ENST00000361746.8,ENST00000531451.5,ENST00000361392.8,ENST00000372367.5,ENST00000361400.8,ENST00000545417.5,ENST00000372365.5,ENST00000262915.7,ENST00000353126.7,ENST00000372372.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2108202;cosmic70=.;CLNALLELEID=249956;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.143;1000g2015aug_amr=0.6311;1000g2015aug_all=0.51877;esp6500siv2_all=0.5959;ExAC_ALL=0.6684;ExAC_AFR=0.2217;ExAC_AMR=0.5565;ExAC_EAS=0.6337;ExAC_FIN=0.7469;ExAC_NFE=0.7683;ExAC_OTH=0.6960;ExAC_SAS=0.6095;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,156:156:99:4948,467,0 1 44401384 rs2242637 A G 2429.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARTN;Func=exonic;Gene=NM_001136215,NM_057090,NM_057091;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARTN:NM_001136215:exon2:c.A56G:p.Q19R,ARTN:NM_057090:exon3:c.A56G:p.Q19R,ARTN:NM_057091:exon3:c.A56G:p.Q19R;Gencode=Name\x3eENST00000479128.5,ENST00000372359.9,ENST00000472435.1,ENST00000372354.3,ENST00000414809.7,ENST00000498139.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.8732;1000g2015aug_all=0.836861;esp6500siv2_all=0.8721;ExAC_ALL=0.8848;ExAC_AFR=0.7664;ExAC_AMR=0.8417;ExAC_EAS=0.8358;ExAC_FIN=0.8767;ExAC_NFE=0.9208;ExAC_OTH=0.8738;ExAC_SAS=0.8732;SIFT_score=0.87;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=-1.61;FATHMM_pred=D;phyloP100way_vertebrate=-0.113;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.801;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2458,228,0 1 44402565 rs12127737 G A 649.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.77;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARTN;Func=UTR3;Gene=NM_001136215,NM_057090,NM_057091;GeneDetail=NM_001136215:c.*128G>A\x3bNM_057090:c.*128G>A\x3bNM_057091:c.*128G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372359.9,ENST00000498139.6,ENST00000414809.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.6239;1000g2015aug_all=0.500998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:678,51,0 1 44415415 rs2240447 C T 7205.77 PASS AC=2;AF=1;AN=2;DP=225;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=0.973;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO13;Func=exonic;Gene=NM_014652;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IPO13:NM_014652:exon2:c.C411T:p.D137D;Gencode=Name\x3eENST00000372343.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2240447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.6167;1000g2015aug_all=0.505192;esp6500siv2_all=0.5884;ExAC_ALL=0.6710;ExAC_AFR=0.1844;ExAC_AMR=0.5412;ExAC_EAS=0.6377;ExAC_FIN=0.7867;ExAC_NFE=0.7766;ExAC_OTH=0.6949;ExAC_SAS=0.6108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,224:224:99:7234,672,0 1 44426025 rs2301993 G A 2103.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO13;Func=intronic;Gene=NM_014652;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372343.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2301993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.6282;1000g2015aug_all=0.540935;esp6500siv2_all=0.6256;ExAC_ALL=0.6788;ExAC_AFR=0.3019;ExAC_AMR=0.5449;ExAC_EAS=0.6393;ExAC_FIN=0.7831;ExAC_NFE=0.7742;ExAC_OTH=0.7026;ExAC_SAS=0.6020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2132,207,0 1 44426948 rs2906596 G A 1882.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO13;Func=intronic;Gene=NM_014652;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372343.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2906596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.908;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.8646;1000g2015aug_all=0.821685;esp6500siv2_all=0.8604;ExAC_ALL=0.8877;ExAC_AFR=0.7052;ExAC_AMR=0.8401;ExAC_EAS=0.8450;ExAC_FIN=0.8801;ExAC_NFE=0.9282;ExAC_OTH=0.8800;ExAC_SAS=0.8979;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1911,180,0 1 44431715 rs3791120 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO13;Func=intronic;Gene=NM_014652;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372339.3,ENST00000372343.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3791120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.239;1000g2015aug_amr=0.6297;1000g2015aug_all=0.544728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 44432500 rs4660759 C G 2361.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=1.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO13;Func=intronic;Gene=NM_014652;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372339.3,ENST00000372343.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.239;1000g2015aug_amr=0.6297;1000g2015aug_all=0.544928;esp6500siv2_all=0.6278;ExAC_ALL=0.6823;ExAC_AFR=0.3130;ExAC_AMR=0.5497;ExAC_EAS=0.6406;ExAC_FIN=0.7848;ExAC_NFE=0.7771;ExAC_OTH=0.7031;ExAC_SAS=0.6029;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2390,216,0 1 44442521 rs12410334 A C 1547.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=1.378;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP6V0B;Func=intronic;Gene=NM_001039457,NM_001294333,NM_004047;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236067.8,ENST00000532642.5,ENST00000498664.1,ENST00000472174.6,ENST00000471859.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12410334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.6513;1000g2015aug_all=0.559305;esp6500siv2_all=0.6185;ExAC_ALL=0.7159;ExAC_AFR=0.2016;ExAC_AMR=0.6072;ExAC_EAS=0.7520;ExAC_FIN=0.8041;ExAC_NFE=0.8096;ExAC_OTH=0.7373;ExAC_SAS=0.6814;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1576,141,0 1 44443422 rs41270397 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP6V0B;Func=UTR3;Gene=NM_001294333;GeneDetail=NM_001294333:c.*339C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000532642.5,ENST00000236067.8,ENST00000498664.1,ENST00000471859.6,ENST00000472174.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0527;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0175719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 44446634 rs2486006 A G 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB4GALT2;Func=intronic;Gene=NM_001005417,NM_003780,NM_030587;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434555.6,ENST00000356836.10,ENST00000372324.5,ENST00000309519.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.911;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.8646;1000g2015aug_all=0.822085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 44451124 rs75761202 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB4GALT2;Func=intronic;Gene=NM_001005417,NM_003780,NM_030587;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372324.5,ENST00000309519.8,ENST00000434555.6,ENST00000356836.10;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75761202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.502;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.208;1000g2015aug_amr=0.4683;1000g2015aug_all=0.412141;esp6500siv2_all=.;ExAC_ALL=0.2652;ExAC_AFR=0.1951;ExAC_AMR=0.1380;ExAC_EAS=0.1566;ExAC_FIN=0.2699;ExAC_NFE=0.3661;ExAC_OTH=0.21;ExAC_SAS=0.1842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:75:75,0,95 1 44451234 rs1061781 C T 695.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.739;DP=68;ExcessHet=3.0103;FS=0.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.609;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB4GALT2;Func=exonic;Gene=NM_001005417,NM_003780,NM_030587;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=B4GALT2:NM_001005417:exon6:c.C909T:p.I303I,B4GALT2:NM_003780:exon6:c.C909T:p.I303I,B4GALT2:NM_030587:exon6:c.C996T:p.I332I;Gencode=Name\x3eENST00000356836.10,ENST00000434555.6,ENST00000372324.5,ENST00000309519.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0778;1000g2015aug_all=0.0934505;esp6500siv2_all=0.0890;ExAC_ALL=0.0935;ExAC_AFR=0.0616;ExAC_AMR=0.0945;ExAC_EAS=0.1265;ExAC_FIN=0.0675;ExAC_NFE=0.0945;ExAC_OTH=0.0725;ExAC_SAS=0.1029;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,32:68:99:724,0,891 1 44457215 rs12403025 G A 736.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.05;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001349127,NM_001349128,NM_001349129,NM_152499\x3bNM_001005417,NM_003780,NM_030587;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372307.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.5879;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:765,63,0 1 44457305 rs12403036 G A 1924.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC24;Func=UTR5;Gene=NM_001349127,NM_152499;GeneDetail=NM_001349127:c.-246G>A\x3bNM_152499:c.-246G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372318.7,ENST00000372307.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.5879;1000g2015aug_all=0.51258;esp6500siv2_all=.;ExAC_ALL=0.6601;ExAC_AFR=0.2789;ExAC_AMR=0.7609;ExAC_EAS=0.6061;ExAC_FIN=.;ExAC_NFE=0.6770;ExAC_OTH=0.6864;ExAC_SAS=0.6628;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:1953,188,0 1 44467504 rs116254654 A G 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.618;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A9;Func=intronic;Gene=NM_001024845,NM_001261380,NM_001328626,NM_001328627,NM_001328628,NM_001328629,NM_001328630,NM_006934,NM_201649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372306.7,ENST00000372307.7,ENST00000475075.6,ENST00000360584.6,ENST00000372310.7,ENST00000357730.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1887\x3bName\x3e"101146:AluJb(SINE)";avsnp150=rs116254654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0145767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,218 1 44475987 rs2486001 T C 427.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.91;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A9;Func=intronic;Gene=NM_001024845,NM_001261380,NM_001328626,NM_001328627,NM_001328628,NM_001328629,NM_001328630,NM_006934,NM_201649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357730.6,ENST00000372310.7,ENST00000372307.7,ENST00000475075.6,ENST00000360584.6,ENST00000372306.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.7637;1000g2015aug_all=0.839657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:456,33,0 1 44477431 rs111824744 T G 823.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.64;DP=74;ExcessHet=3.0103;FS=0.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.207;SOR=0.553;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A9;Func=intronic;Gene=NM_001024845,NM_001261380,NM_001328626,NM_001328627,NM_001328628,NM_001328629,NM_001328630,NM_006934,NM_201649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360584.6,ENST00000372307.7,ENST00000475075.6,ENST00000372306.7,ENST00000357730.6,ENST00000372310.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111824744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0109;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00319489;esp6500siv2_all=0.0081;ExAC_ALL=0.0079;ExAC_AFR=0.0014;ExAC_AMR=0.0035;ExAC_EAS=0.0001;ExAC_FIN=0.0140;ExAC_NFE=0.0105;ExAC_OTH=0.0035;ExAC_SAS=0.0061;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,33:74:99:852,0,1163 1 44534476 rs72686003 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001024845,NM_173484;GeneDetail=dist\x3e37312\x3bdist\x3e50046;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609027.1,ENST00000434244.5,ENST00000453688.5,ENST00000431800.1,ENST00000437643.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72686003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.0749;1000g2015aug_all=0.118211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 44570250 rs1291052 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001024845,NM_173484;GeneDetail=dist\x3e73086\x3bdist\x3e14272;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434244.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.904375\x3bName\x3echr3:138101239;Repeat=.;avsnp150=rs1291052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.862;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.9179;1000g2015aug_all=0.81889;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 44570997 rs1408917 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001024845,NM_173484;GeneDetail=dist\x3e73833\x3bdist\x3e13525;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628123.1,ENST00000627999.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1408917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.036;1000g2015aug_all=0.0898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 44595047 rs11210969 T A 1954.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.202;DP=143;ExcessHet=3.0103;FS=2.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.008;SOR=0.533;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLF17;Func=exonic;Gene=NM_173484;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLF17:NM_173484:exon2:c.T104A:p.I35N;Gencode=Name\x3eENST00000372299.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.900223\x3bName\x3echr12:62231660;Repeat=.;avsnp150=rs11210969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.121;1000g2015aug_amr=0.255;1000g2015aug_all=0.217452;esp6500siv2_all=0.2425;ExAC_ALL=0.2729;ExAC_AFR=0.1373;ExAC_AMR=0.2297;ExAC_EAS=0.1964;ExAC_FIN=0.3174;ExAC_NFE=0.3068;ExAC_OTH=0.2531;ExAC_SAS=0.2816;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.868;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.4;Polyphen2_HVAR_pred=B;LRT_score=0.965;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=0.701;phyloP20way_mammalian=-0.278;SiPhy_29way_logOdds=3.909;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,76:143:99:1983,0,1835 1 44595113 rs2429051 G C 5238.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLF17;Func=exonic;Gene=NM_173484;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLF17:NM_173484:exon2:c.G170C:p.S57T;Gencode=Name\x3eENST00000372299.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.900223\x3bName\x3echr12:62231660;Repeat=.;avsnp150=rs2429051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.5159;1000g2015aug_all=0.496406;esp6500siv2_all=0.5398;ExAC_ALL=0.6088;ExAC_AFR=0.2775;ExAC_AMR=0.5101;ExAC_EAS=0.6680;ExAC_FIN=0.6428;ExAC_NFE=0.6719;ExAC_OTH=0.5828;ExAC_SAS=0.5869;SIFT_score=0.229;SIFT_pred=T;Polyphen2_HDIV_score=0.183;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_pred=B;LRT_score=0.653;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=2.95;FATHMM_pred=T;phyloP100way_vertebrate=-0.429;phyloP20way_mammalian=-1.582;SiPhy_29way_logOdds=1.663;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,148:148:99:5267,445,0 1 44595410 rs2485652 A G 2043.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.954;DP=149;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.395;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLF17;Func=exonic;Gene=NM_173484;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KLF17:NM_173484:exon2:c.A467G:p.N156S;Gencode=Name\x3eENST00000372299.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.900223\x3bName\x3echr12:62231660;Repeat=.;avsnp150=rs2485652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2594;1000g2015aug_all=0.275559;esp6500siv2_all=0.2952;ExAC_ALL=0.3305;ExAC_AFR=0.1332;ExAC_AMR=0.2827;ExAC_EAS=0.4720;ExAC_FIN=0.325;ExAC_NFE=0.3647;ExAC_OTH=0.3322;ExAC_SAS=0.2782;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.163;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.435;MutationAssessor_pred=N;FATHMM_score=3.17;FATHMM_pred=T;phyloP100way_vertebrate=-2.130;phyloP20way_mammalian=-3.135;SiPhy_29way_logOdds=8.585;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:78,71:149:99:2072,0,2196 1 44595426 rs2429050 G A 1973.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.324;DP=152;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.347;SOR=0.876;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLF17;Func=exonic;Gene=NM_173484;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLF17:NM_173484:exon2:c.G483A:p.S161S;Gencode=Name\x3eENST00000372299.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.900223\x3bName\x3echr12:62231660;Repeat=.;avsnp150=rs2429050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2579;1000g2015aug_all=0.27516;esp6500siv2_all=0.2953;ExAC_ALL=0.3302;ExAC_AFR=0.1328;ExAC_AMR=0.2803;ExAC_EAS=0.4717;ExAC_FIN=0.3257;ExAC_NFE=0.3646;ExAC_OTH=0.3322;ExAC_SAS=0.2781;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,72:152:99:2002,0,2307 1 44679556 rs803369 A G 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.036;DP=103;ExcessHet=3.0103;FS=2.61;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.094;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMAP1;Func=intronic;Gene=NM_001034023,NM_001034024,NM_019100;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372289.6,ENST00000361745.10,ENST00000315913.9;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs803369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.9153;1000g2015aug_amr=0.745;1000g2015aug_all=0.714856;esp6500siv2_all=0.7073;ExAC_ALL=0.7011;ExAC_AFR=0.8829;ExAC_AMR=0.7540;ExAC_EAS=0.5446;ExAC_FIN=0.7081;ExAC_NFE=0.6588;ExAC_OTH=0.6172;ExAC_SAS=0.7249;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,45:103:99:1062,0,1466 1 44684995 rs2799480 T C 1415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.641;DP=80;ExcessHet=3.0103;FS=8.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.188;SOR=0.205;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMAP1;Func=intronic;Gene=NM_001034023,NM_001034024,NM_019100;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361745.10,ENST00000372289.6,ENST00000315913.9;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.2738;1000g2015aug_all=0.310304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,50:79:99:1444,0,838 1 44773727 rs325143 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372259.9,ENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs325143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.5922;1000g2015aug_all=0.568291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 44773839 rs2301767 C T 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=0.886;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372259.9,ENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2301767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.2579;1000g2015aug_all=0.284545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:92:267,0,92 1 44775715 rs161728 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372259.9,ENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e587\x3bName\x3e"101866:MIRb(SINE)";avsnp150=rs161728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.9957;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 44785686 rs2074536 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372259.9,ENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2074536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.2579;1000g2015aug_all=0.285144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 44788398 rs161721 A T 1672.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372257.6,ENST00000372259.9;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs161721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.992;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9813;1000g2015aug_all=0.979233;esp6500siv2_all=.;ExAC_ALL=0.9833;ExAC_AFR=0.9484;ExAC_AMR=1;ExAC_EAS=0.9897;ExAC_FIN=0.9574;ExAC_NFE=0.9852;ExAC_OTH=0.9757;ExAC_SAS=0.9908;SIFT_score=0.816;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.07;FATHMM_pred=T;phyloP100way_vertebrate=0.070;phyloP20way_mammalian=-0.867;SiPhy_29way_logOdds=7.699;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1701,164,0 1 44818337 rs1291178 G T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.282;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1291178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.5908;1000g2015aug_all=0.566893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 44820319 rs226067 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=intronic;Gene=NM_001301698,NM_001301699,NM_001301700,NM_001301701,NM_024066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs226067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.992;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9798;1000g2015aug_all=0.980831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 44820806 rs112744966 C A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERI3;Func=UTR5;Gene=NM_001301698,NM_024066;GeneDetail=NM_001301698:c.-15835G>T\x3bNM_024066:c.-108G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372257.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"101935:(GGC)n(Simple_repeat)";avsnp150=rs112744966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 44878509 rs11210991 C G 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.062;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.659;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.4726;1000g2015aug_all=0.313299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:249,0,313 1 44878549 rs11210992 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.7;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.4957;1000g2015aug_all=0.342452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,169 1 44967398 rs781793 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361799.6,ENST00000372247.6,ENST00000355387.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs781793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9971;1000g2015aug_all=0.984824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 44967431 rs56242438 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000361799.6,ENST00000372247.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56242438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.2168;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.2104;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 44994308 . A C 47.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2291\x3bName\x3e"102355:AluSx(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:75,6,0 1 44995299 rs3012026 G C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2042\x3bName\x3e"102358:AluSz(SINE)";avsnp150=rs3012026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.9899;1000g2015aug_all=0.958666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 45001163 rs12723453 C T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361799.6,ENST00000372247.6,ENST00000355387.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12723453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.2421;1000g2015aug_all=0.364417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 45010940 rs12128659 G T 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361799.6,ENST00000372247.6,ENST00000355387.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.2982;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.1816;1000g2015aug_all=0.113618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:142,0,100 1 45042530 rs156258 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"102471:(CTCAT)n(Simple_repeat)";avsnp150=rs156258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.9856;1000g2015aug_all=0.967652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 45076660 rs156257 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355387.6,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs156257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.9856;1000g2015aug_all=0.950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45088629 rs28453885 G A 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.097;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.458;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372247.6,ENST00000361799.6,ENST00000355387.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28453885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.3876;1000g2015aug_all=0.371605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:159,0,263 1 45101478 rs2236219 T C 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.965;DP=37;ExcessHet=3.0103;FS=5.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-2.012;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372244.3,ENST00000372243.7,ENST00000355387.6,ENST00000372242.7,ENST00000372247.6,ENST00000361799.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.389;1000g2015aug_all=0.376398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,20:37:99:717,0,555 1 45111360 rs12728857 A G 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.483;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF220;Func=intronic;Gene=NM_001319956,NM_001319957,NM_018150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361799.6,ENST00000372247.6,ENST00000355387.6,ENST00000372243.7,ENST00000372244.3,ENST00000372242.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.304;1000g2015aug_all=0.27516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:136,0,261 1 45121045 rs11211020 T C 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.272;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM53;Func=intronic;Gene=NM_001300746,NM_001300747,NM_001300748,NM_024587;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372242.7,ENST00000372244.3,ENST00000372235.7,ENST00000372243.7,ENST00000372237.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.6571;1000g2015aug_all=0.724241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:96:96,0,183 1 45170161 rs72671992 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-0.319;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf228;Func=intronic;Gene=NM_001145636;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535358.5,ENST00000458657.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72671992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0183706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,203 1 45205323 rs11211030 A G 300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.05;ReadPosRankSum=-0.229;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001297655,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.464;1000g2015aug_all=0.463458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:329,0,205 1 45205598 rs3820586 T C 1075.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.498;DP=109;ExcessHet=3.0103;FS=0.715;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.231;SOR=0.617;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=UTR5;Gene=NM_001297655,NM_006845;GeneDetail=NM_001297655:c.-7T>C\x3bNM_006845:c.-7T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372224.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.2781;1000g2015aug_all=0.286342;esp6500siv2_all=0.2632;ExAC_ALL=0.2122;ExAC_AFR=0.4493;ExAC_AMR=0.2435;ExAC_EAS=0.2590;ExAC_FIN=0.1875;ExAC_NFE=0.1726;ExAC_OTH=0.1663;ExAC_SAS=0.1889;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,45:109:99:1104,0,1664 1 45215905 rs67742332 T G 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.355;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372217.5,ENST00000372224.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67742332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.2781;1000g2015aug_all=0.286342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:138,0,188 1 45216038 rs12566610 C G 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.558;DP=47;ExcessHet=3.0103;FS=4.502;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.193;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372224.8,ENST00000372217.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12566610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.2781;1000g2015aug_all=0.286342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,21:47:99:613,0,694 1 45218895 rs3795713 A T 1162.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.905;DP=120;ExcessHet=3.0103;FS=2.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.842;SOR=0.972;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=exonic;Gene=NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF2C:NM_001297656:exon5:c.A369T:p.R123R,KIF2C:NM_001297657:exon5:c.A192T:p.R64R,KIF2C:NM_006845:exon6:c.A531T:p.R177R;Gencode=Name\x3eENST00000372224.8,ENST00000372217.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.2781;1000g2015aug_all=0.286542;esp6500siv2_all=0.2630;ExAC_ALL=0.2124;ExAC_AFR=0.4488;ExAC_AMR=0.2450;ExAC_EAS=0.2585;ExAC_FIN=0.1872;ExAC_NFE=0.1726;ExAC_OTH=0.1667;ExAC_SAS=0.1895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,47:120:99:1191,0,1974 1 45222916 rs16832227 A G 89.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372217.5,ENST00000372224.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16832227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2522;1000g2015aug_all=0.204073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:118,0,27 1 45224007 rs3795714 G T 168.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.401;DP=36;ExcessHet=3.0103;FS=1.591;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=-0.384;SOR=0.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372217.5,ENST00000372224.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2464;1000g2015aug_all=0.191294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,9:36:99:197,0,780 1 45224757 rs16832228 G A 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.686;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=-1.051;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372224.8,ENST00000372217.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16832228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.4625;1000g2015aug_all=0.46266;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:448,0,271 1 45224998 rs4342887 A C 2584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.236;DP=189;ExcessHet=3.0103;FS=0.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.405;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=exonic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIF2C:NM_001297655:exon13:c.A1222C:p.I408L,KIF2C:NM_001297656:exon13:c.A1183C:p.I395L,KIF2C:NM_001297657:exon13:c.A1006C:p.I336L,KIF2C:NM_006845:exon14:c.A1345C:p.I449L;Gencode=Name\x3eENST00000372224.8,ENST00000372217.5,ENST00000428791.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4342887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.2507;1000g2015aug_all=0.203075;esp6500siv2_all=0.1761;ExAC_ALL=0.1882;ExAC_AFR=0.1887;ExAC_AMR=0.2337;ExAC_EAS=0.2589;ExAC_FIN=0.1871;ExAC_NFE=0.1718;ExAC_OTH=0.1553;ExAC_SAS=0.1878;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.155;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.94;MutationAssessor_pred=L;FATHMM_score=-0.54;FATHMM_pred=T;phyloP100way_vertebrate=5.168;phyloP20way_mammalian=0.235;SiPhy_29way_logOdds=13.045;gerp++gt2=4.72;CADD=3.823;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,99:189:99:2613,0,2334 1 45226084 rs1140279 G A 2793.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.149;DP=250;ExcessHet=3.0103;FS=3.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.873;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=exonic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF2C:NM_001297655:exon14:c.G1377A:p.A459A,KIF2C:NM_001297656:exon14:c.G1338A:p.A446A,KIF2C:NM_001297657:exon14:c.G1161A:p.A387A,KIF2C:NM_006845:exon15:c.G1500A:p.A500A;Gencode=Name\x3eENST00000372224.8,ENST00000372217.5,ENST00000428791.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1140279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2464;1000g2015aug_all=0.190695;esp6500siv2_all=0.1605;ExAC_ALL=0.1837;ExAC_AFR=0.1404;ExAC_AMR=0.2305;ExAC_EAS=0.2578;ExAC_FIN=0.1878;ExAC_NFE=0.1718;ExAC_OTH=0.1530;ExAC_SAS=0.1880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:140,110:250:99:2822,0,3960 1 45231358 rs7518836 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF2C;Func=intronic;Gene=NM_001297655,NM_001297656,NM_001297657,NM_006845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428791.1,ENST00000372217.5,ENST00000372224.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1318\x3bName\x3e"102902:AluSx3(SINE)";avsnp150=rs7518836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.832;1000g2015aug_afr=0.888;1000g2015aug_amr=0.7075;1000g2015aug_all=0.741014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45241113 rs11211031 T C 768.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.39;DP=48;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.765;SOR=0.137;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001012,NR_000015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428791.1,ENST00000396651.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.4625;1000g2015aug_all=0.46266;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,25:48:99:797,0,780 1 45241285 rs12120833 C G 1449.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.963;DP=126;ExcessHet=3.0103;FS=3.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.387;SOR=0.513;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS8;Func=intronic;Gene=NM_001012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396651.7,ENST00000372209.3,ENST00000428791.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12120833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.028;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0493211;esp6500siv2_all=0.1064;ExAC_ALL=0.1047;ExAC_AFR=0.0446;ExAC_AMR=0.0393;ExAC_EAS=0.0003;ExAC_FIN=0.1397;ExAC_NFE=0.1382;ExAC_OTH=0.0996;ExAC_SAS=0.0939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,57:126:99:1478,0,1968 1 45241587 rs41269073 G A 714.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.123;DP=45;ExcessHet=3.0103;FS=1.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.562;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS8,SNORD55;Func=ncRNA_exonic;Gene=NR_000015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396651.7,ENST00000372209.3,ENST00000581525.1;cytoBand=1p34.1;wgRna=Name\x3eU55;genomicSuperDups=.;Repeat=.;avsnp150=rs41269073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.036;1000g2015aug_all=0.0165735;esp6500siv2_all=0.0354;ExAC_ALL=0.0434;ExAC_AFR=0.0119;ExAC_AMR=0.0263;ExAC_EAS=0;ExAC_FIN=0.0694;ExAC_NFE=0.0618;ExAC_OTH=0.0567;ExAC_SAS=0.0144;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,28:45:99:743,0,405 1 45244025 rs142345455 G T 1125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.162;DP=55;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=1.603;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS8;Func=intronic;Gene=NM_001012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372209.3,ENST00000396651.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142345455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00219649;esp6500siv2_all=0.0035;ExAC_ALL=0.0038;ExAC_AFR=0.0006;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0059;ExAC_NFE=0.0057;ExAC_OTH=0.0046;ExAC_SAS=0.0001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,38:55:99:1154,0,439 1 45253628 rs6429548 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_153274;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.559;1000g2015aug_amr=0.4294;1000g2015aug_all=0.431709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45266832 rs17881698 A G 1451.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.061;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=1.077;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLK3;Func=intronic;Gene=NM_004073;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372201.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17881698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.245;1000g2015aug_all=0.191893;esp6500siv2_all=0.1600;ExAC_ALL=0.1856;ExAC_AFR=0.1442;ExAC_AMR=0.2352;ExAC_EAS=0.2586;ExAC_FIN=0.1884;ExAC_NFE=0.1729;ExAC_OTH=0.1529;ExAC_SAS=0.1906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,51:86:99:1480,0,921 1 45268356 rs11584440 C A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.842;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLK3;Func=intronic;Gene=NM_004073;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372201.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.245;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 45270024 rs11211036 G C 1577.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.963;DP=149;ExcessHet=3.0103;FS=2.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.377;SOR=0.94;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLK3;Func=exonic;Gene=NM_004073;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLK3:NM_004073:exon12:c.G1356C:p.P452P;Gencode=Name\x3eENST00000372201.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.245;1000g2015aug_all=0.191893;esp6500siv2_all=0.1594;ExAC_ALL=0.1848;ExAC_AFR=0.1439;ExAC_AMR=0.2336;ExAC_EAS=0.2580;ExAC_FIN=0.1879;ExAC_NFE=0.1720;ExAC_OTH=0.1531;ExAC_SAS=0.1901;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:92,57:149:99:1606,0,2604 1 45271097 rs17883049 G A 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.301;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.414;SOR=0.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLK3;Func=intronic;Gene=NM_004073;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372201.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17883049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.245;1000g2015aug_all=0.191693;esp6500siv2_all=0.1602;ExAC_ALL=0.1846;ExAC_AFR=0.1425;ExAC_AMR=0.2338;ExAC_EAS=0.2592;ExAC_FIN=0.1879;ExAC_NFE=0.1718;ExAC_OTH=0.1531;ExAC_SAS=0.1900;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,40:97:99:1093,0,1560 1 45271912 rs17886118 G A 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.022;DP=59;ExcessHet=3.0103;FS=2.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.903;SOR=0.398;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCTEX1D4;Func=exonic;Gene=NM_001013632;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TCTEX1D4:NM_001013632:exon2:c.C429T:p.D143D;Gencode=Name\x3eENST00000339355.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17886118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.2421;1000g2015aug_all=0.176118;esp6500siv2_all=0.1203;ExAC_ALL=0.2141;ExAC_AFR=0.1903;ExAC_AMR=0.3;ExAC_EAS=0.3485;ExAC_FIN=0.3;ExAC_NFE=0.2344;ExAC_OTH=0.1786;ExAC_SAS=0.2014;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,24:59:99:721,0,977 1 45275551 rs11211037 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBTBD19;Func=intronic;Gene=NM_001136537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450269.5,ENST00000409335.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.6505;1000g2015aug_amr=0.4452;1000g2015aug_all=0.485224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 45289376 rs7514741 T C 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372192.3,ENST00000447098.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1956\x3bName\x3e"103037:AluJb(SINE)";avsnp150=rs7514741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.4409;1000g2015aug_all=0.445687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 45291908 rs11211040 G A 2167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.011;DP=154;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.251;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.245;1000g2015aug_all=0.195687;esp6500siv2_all=0.1618;ExAC_ALL=0.1965;ExAC_AFR=0.1640;ExAC_AMR=0.2502;ExAC_EAS=0.2680;ExAC_FIN=0.2076;ExAC_NFE=0.1821;ExAC_OTH=0.1627;ExAC_SAS=0.1972;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,85:154:99:2196,0,1722 1 45293518 rs7525308 A G 1310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.707;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.285;SOR=0.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=exonic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTCH2:NM_001166292:exon14:c.T2055C:p.A685A,PTCH2:NM_003738:exon14:c.T2055C:p.A685A;Gencode=Name\x3eENST00000372192.3,ENST00000447098.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7525308;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.32;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.4409;1000g2015aug_all=0.445487;esp6500siv2_all=0.4244;ExAC_ALL=0.3846;ExAC_AFR=0.5870;ExAC_AMR=0.4236;ExAC_EAS=0.4844;ExAC_FIN=0.3528;ExAC_NFE=0.3459;ExAC_OTH=0.3292;ExAC_SAS=0.3498;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,49:81:99:1339,0,818 1 45293752 rs2295997 T C 1356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.223;DP=96;ExcessHet=3.0103;FS=2.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.123;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=exonic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTCH2:NM_001166292:exon14:c.A1821G:p.E607E,PTCH2:NM_003738:exon14:c.A1821G:p.E607E;Gencode=Name\x3eENST00000372192.3,ENST00000447098.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.2156;1000g2015aug_amr=0.2522;1000g2015aug_all=0.21266;esp6500siv2_all=0.1795;ExAC_ALL=0.1897;ExAC_AFR=0.2025;ExAC_AMR=0.2348;ExAC_EAS=0.2592;ExAC_FIN=0.1875;ExAC_NFE=0.1716;ExAC_OTH=0.1553;ExAC_SAS=0.1894;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,50:96:99:1385,0,1265 1 45294156 rs2273940 T C 1750.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.085;DP=133;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=2.143;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.32;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.593;1000g2015aug_amr=0.4409;1000g2015aug_all=0.443291;esp6500siv2_all=0.4215;ExAC_ALL=0.3833;ExAC_AFR=0.5771;ExAC_AMR=0.4233;ExAC_EAS=0.4835;ExAC_FIN=0.3586;ExAC_NFE=0.3446;ExAC_OTH=0.3326;ExAC_SAS=0.3495;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,66:133:99:1779,0,1822 1 45296277 rs11584365 G A 43.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1175\x3bName\x3e"103051:AluSg4(SINE)";avsnp150=rs11584365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 1 45296752 rs2295998 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.1853;1000g2015aug_amr=0.2493;1000g2015aug_all=0.204473;esp6500siv2_all=0.1714;ExAC_ALL=0.2031;ExAC_AFR=0.1985;ExAC_AMR=0.2514;ExAC_EAS=0.2772;ExAC_FIN=0.2086;ExAC_NFE=0.1874;ExAC_OTH=0.1667;ExAC_SAS=0.1968;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 45297753 rs2295999 A G 1127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=93;ExcessHet=3.0103;FS=1.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.067;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.4652;1000g2015aug_amr=0.2695;1000g2015aug_all=0.28115;esp6500siv2_all=0.2615;ExAC_ALL=0.2116;ExAC_AFR=0.4389;ExAC_AMR=0.2481;ExAC_EAS=0.2586;ExAC_FIN=0.1878;ExAC_NFE=0.1720;ExAC_OTH=0.1597;ExAC_SAS=0.1908;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,40:92:99:1156,0,1450 1 45307506 rs3795720 G A 1450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.857;DP=121;ExcessHet=3.0103;FS=0.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.823;SOR=0.618;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372192.3,ENST00000447098.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.5086;1000g2015aug_all=0.372005;esp6500siv2_all=0.3391;ExAC_ALL=0.3675;ExAC_AFR=0.3275;ExAC_AMR=0.5396;ExAC_EAS=0.4311;ExAC_FIN=0.3376;ExAC_NFE=0.3467;ExAC_OTH=0.3186;ExAC_SAS=0.3378;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,58:121:99:1479,0,1723 1 45308409 rs6696675 G A 313.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.35;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.833;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTCH2;Func=intronic;Gene=NM_001166292,NM_003738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447098.6,ENST00000372192.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.6104;1000g2015aug_amr=0.5303;1000g2015aug_all=0.451278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:342,0,453 1 45313150 rs7517639 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001166292,NM_001261418;GeneDetail=dist\x3e4534\x3bdist\x3e3044;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.3545;1000g2015aug_all=0.212859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45340282 rs9988451 C T 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.986;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.156;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF2B3;Func=UTR3;Gene=NM_001166588;GeneDetail=NM_001166588:c.*31G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372183.7,ENST00000360403.6,ENST00000620860.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1710\x3bName\x3e"103170:HAL1(LINE)";avsnp150=rs9988451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4514;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.536;1000g2015aug_all=0.451677;esp6500siv2_all=0.4198;ExAC_ALL=0.4112;ExAC_AFR=0.5969;ExAC_AMR=0.5668;ExAC_EAS=0.4480;ExAC_FIN=0.3543;ExAC_NFE=0.3657;ExAC_OTH=0.3385;ExAC_SAS=0.3710;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:312,0,547 1 45340703 rs263955 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF2B3;Func=intronic;Gene=NM_001166588,NM_001261418,NM_020365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372183.7,ENST00000360403.6,ENST00000620860.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs263955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.7608;1000g2015aug_all=0.791733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45362992 rs263978 T C 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.954;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.347;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF2B3;Func=intronic;Gene=NM_001166588,NM_001261418,NM_020365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372183.7,ENST00000360403.6,ENST00000620860.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs263978;cosmic70=.;CLNALLELEID=249960;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.7565;1000g2015aug_all=0.791134;esp6500siv2_all=0.6611;ExAC_ALL=0.6589;ExAC_AFR=0.9077;ExAC_AMR=0.8086;ExAC_EAS=0.9733;ExAC_FIN=0.5302;ExAC_NFE=0.5618;ExAC_OTH=0.5954;ExAC_SAS=0.6594;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:413,0,273 1 45444038 rs11556200 G A 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.645;DP=43;ExcessHet=3.0103;FS=2.648;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.329;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEIF2B3;Func=exonic;Gene=NM_001166588,NM_001261418,NM_020365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EIF2B3:NM_001166588:exon3:c.C243T:p.D81D,EIF2B3:NM_001261418:exon3:c.C243T:p.D81D,EIF2B3:NM_020365:exon3:c.C243T:p.D81D;Gencode=Name\x3eENST00000620860.4,ENST00000372183.7,ENST00000360403.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11556200;cosmic70=.;CLNALLELEID=101843;CLNDN=Leukoencephalopathy_with_vanishing_white_matter|not_specified;CLNDISDB=MedGen:C1858991,OMIM:603896,Orphanet:ORPHA99854|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2758;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.4265;1000g2015aug_all=0.296526;esp6500siv2_all=0.2841;ExAC_ALL=0.2588;ExAC_AFR=0.3894;ExAC_AMR=0.4178;ExAC_EAS=0.2520;ExAC_FIN=0.2198;ExAC_NFE=0.2307;ExAC_OTH=0.2148;ExAC_SAS=0.1998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,20:43:99:490,0,627 1 45453893 rs7553658 A C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.328;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=0.328;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001261418,NM_024602;GeneDetail=dist\x3e1499\x3bdist\x3e14327;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2758;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.5015;1000g2015aug_amr=0.4337;1000g2015aug_all=0.323283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,112 1 45457681 rs12126314 G A 298.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.164;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.723;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001261418,NM_024602;GeneDetail=dist\x3e5287\x3bdist\x3e10539;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.5015;1000g2015aug_amr=0.4323;1000g2015aug_all=0.322883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:327,0,329 1 45457708 rs12126318 G A 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=0.627;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001261418,NM_024602;GeneDetail=dist\x3e5314\x3bdist\x3e10512;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.4323;1000g2015aug_all=0.323682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:254,0,414 1 45469176 rs12749251 A T 1164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.804;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.144;SOR=0.7;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=exonic;Gene=NM_024602;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HECTD3:NM_024602:exon21:c.T2574A:p.P858P;Gencode=Name\x3eENST00000372172.4,ENST00000372168.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12749251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0515176;esp6500siv2_all=0.1123;ExAC_ALL=0.1089;ExAC_AFR=0.0460;ExAC_AMR=0.0344;ExAC_EAS=0.0002;ExAC_FIN=0.1392;ExAC_NFE=0.1480;ExAC_OTH=0.1036;ExAC_SAS=0.0853;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,43:99:99:1193,0,1433 1 45470130 rs7528534 T C 1728.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372168.7,ENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.956;1000g2015aug_eur=0.9274;1000g2015aug_afr=0.829;1000g2015aug_amr=0.928;1000g2015aug_all=0.896366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1757,129,0 1 45471362 rs12739545 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4,ENST00000372168.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e431\x3bName\x3e"103547:L2c(LINE)";avsnp150=rs12739545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.4092;1000g2015aug_all=0.246605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 45473316 rs4660830 C T 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.041;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4,ENST00000372168.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.5187;1000g2015aug_all=0.644968;esp6500siv2_all=0.6889;ExAC_ALL=0.6685;ExAC_AFR=0.6622;ExAC_AMR=0.4920;ExAC_EAS=0.6114;ExAC_FIN=0.6968;ExAC_NFE=0.6968;ExAC_OTH=0.7192;ExAC_SAS=0.6950;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:193,0,331 1 45473392 rs12134146 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.431;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4,ENST00000372168.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e219\x3bName\x3e"103550:L2b(LINE)";avsnp150=rs12134146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.4289;1000g2015aug_amr=0.4294;1000g2015aug_all=0.321685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 45474008 rs7541207 T C 1064.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.398;DP=70;ExcessHet=3.0103;FS=3.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.877;SOR=0.482;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4,ENST00000372168.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.4092;1000g2015aug_all=0.246605;esp6500siv2_all=0.2146;ExAC_ALL=0.2571;ExAC_AFR=0.1649;ExAC_AMR=0.4025;ExAC_EAS=0.2652;ExAC_FIN=0.2361;ExAC_NFE=0.2477;ExAC_OTH=0.2367;ExAC_SAS=0.2536;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,41:70:99:1093,0,795 1 45474157 rs2298006 G A 1396.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.71;DP=94;ExcessHet=3.0103;FS=4.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.866;SOR=1.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372168.7,ENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.4986;1000g2015aug_all=0.570088;esp6500siv2_all=0.6089;ExAC_ALL=0.6394;ExAC_AFR=0.4058;ExAC_AMR=0.4650;ExAC_EAS=0.6056;ExAC_FIN=0.6915;ExAC_NFE=0.6910;ExAC_OTH=0.6933;ExAC_SAS=0.6876;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,49:93:99:1425,0,1214 1 45474750 rs2275599 A T 1565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.691;DP=68;ExcessHet=3.0103;FS=3.562;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.03;ReadPosRankSum=0.118;SOR=1.203;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.4294;1000g2015aug_all=0.322085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,39:68:99:1594,0,1710 1 45474755 rs2275598 C G 1625.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.52;DP=72;ExcessHet=3.0103;FS=0.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.58;ReadPosRankSum=-0.775;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.4294;1000g2015aug_all=0.322085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,43:72:99:1654,0,1704 1 45475566 rs6429552 A G 1403.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=1.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1432,126,0 1 45476069 rs7533668 C A 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9986;1000g2015aug_all=0.990016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 45476489 rs3806405 A G 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.048;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.787;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=intronic;Gene=NM_024602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.4294;1000g2015aug_all=0.322085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,13:32:99:413,0,586 1 45476663 rs2298005 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.761;DP=33;ExcessHet=3.0103;FS=1.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.76;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHECTD3;Func=exonic;Gene=NM_024602;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HECTD3:NM_024602:exon1:c.C267T:p.L89L;Gencode=Name\x3eENST00000372172.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.4107;1000g2015aug_all=0.251198;esp6500siv2_all=0.1778;ExAC_ALL=0.3242;ExAC_AFR=0.2382;ExAC_AMR=0.4700;ExAC_EAS=0.3368;ExAC_FIN=0.2976;ExAC_NFE=0.3025;ExAC_OTH=0.295;ExAC_SAS=0.3300;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:458,0,411 1 45478433 rs12749939 C T 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=26;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.698;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUROD;Func=intronic;Gene=NM_000374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246337.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12749939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.4107;1000g2015aug_all=0.251198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:423,0,507 1 45479772 rs11211066 G T 1951.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.153;DP=158;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.032;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUROD;Func=intronic;Gene=NM_000374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246337.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.4107;1000g2015aug_all=0.245607;esp6500siv2_all=0.2149;ExAC_ALL=0.2563;ExAC_AFR=0.1686;ExAC_AMR=0.4011;ExAC_EAS=0.2637;ExAC_FIN=0.2365;ExAC_NFE=0.2463;ExAC_OTH=0.2379;ExAC_SAS=0.2531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,69:157:99:1980,0,2435 1 45479874 rs6698485 G T 2887.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.44;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUROD;Func=intronic;Gene=NM_000374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246337.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:2916,278,0 1 45480733 rs6429553 C T 615.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUROD;Func=intronic;Gene=NM_000374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246337.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"103554:(TGTGTC)n(Simple_repeat)";avsnp150=rs6429553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992612;esp6500siv2_all=0.9884;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:62:644,62,0 1 45480829 rs13948 T C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=5.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.646;SOR=1.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUROD;Func=intronic;Gene=NM_000374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000246337.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e272\x3bName\x3e"103555:L2a(LINE)";avsnp150=rs13948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.4107;1000g2015aug_all=0.247204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,333 1 45486272 rs998418 T C 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.444;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=Score\x3e0.905964\x3bName\x3echr4:129135012;Repeat=.;avsnp150=rs998418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.562;1000g2015aug_all=0.648363;esp6500siv2_all=0.6796;ExAC_ALL=0.7093;ExAC_AFR=0.505;ExAC_AMR=0.5808;ExAC_EAS=0.7355;ExAC_FIN=0.7516;ExAC_NFE=0.7457;ExAC_OTH=0.7506;ExAC_SAS=0.7423;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:278,0,364 1 45500294 rs6671633 A G 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.311;DP=41;ExcessHet=3.0103;FS=5.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=1.118;SOR=1.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.4971;1000g2015aug_all=0.56869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:438,0,637 1 45504858 rs61788380 G T 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.255;DP=23;ExcessHet=3.0103;FS=2.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.504;SOR=0.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61788380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:370,0,261 1 45517024 . C T 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.194;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=0.815;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:134,0,267 1 45523893 rs3850855 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3850855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.4085;1000g2015aug_amr=0.781;1000g2015aug_all=0.710264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 45524213 rs3738246 C T 1025.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.581;DP=73;ExcessHet=3.0103;FS=3.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.761;SOR=0.381;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.835;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.8588;1000g2015aug_all=0.880791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,37:73:99:1054,0,975 1 45536004 rs346702 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.842;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs346702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.83;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.8429;1000g2015aug_all=0.831669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,110 1 45628349 rs3009982 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=intronic;Gene=NM_020883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24753\x3bName\x3e"103889:L1PA5(LINE)";avsnp150=rs3009982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 45671599 rs188223265 G A 552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.138;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.427;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=exonic;Gene=NM_020883;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZSWIM5:NM_020883:exon1:c.C424T:p.P142S;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs188223265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0807;1000g2015aug_all=0.0429313;esp6500siv2_all=.;ExAC_ALL=0.2115;ExAC_AFR=0;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=0.2206;ExAC_NFE=0.1923;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.048;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.143;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=-0.4;FATHMM_pred=T;phyloP100way_vertebrate=0.182;phyloP20way_mammalian=-0.342;SiPhy_29way_logOdds=5.241;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:581,0,325 1 45671966 rs4454584 A G 1472.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.639;DP=130;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.091;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZSWIM5;Func=exonic;Gene=NM_020883;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZSWIM5:NM_020883:exon1:c.T57C:p.A19A;Gencode=Name\x3eENST00000359600.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4454584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.562;1000g2015aug_amr=0.2147;1000g2015aug_all=0.283546;esp6500siv2_all=0.3185;ExAC_ALL=0.3487;ExAC_AFR=0.5849;ExAC_AMR=0.35;ExAC_EAS=0.2122;ExAC_FIN=0.4094;ExAC_NFE=0.3697;ExAC_OTH=0.3115;ExAC_SAS=0.2284;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,56:130:99:1501,0,2032 1 45715853 rs58612171 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020883,NR_024270;GeneDetail=dist\x3e43603\x3bdist\x3e53729;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1441\x3bName\x3e"104074:AluJo(SINE)";avsnp150=rs58612171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.0893;1000g2015aug_all=0.0732827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 45715862 rs57754814 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020883,NR_024270;GeneDetail=dist\x3e43612\x3bdist\x3e53720;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1441\x3bName\x3e"104074:AluJo(SINE)";avsnp150=rs57754814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.174;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.1484;1000g2015aug_all=0.159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 45796269 rs3219493 G C 2391.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=intronic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354383.10,ENST00000372098.7,ENST00000372104.5,ENST00000448481.5,ENST00000450313.5,ENST00000372115.7,ENST00000529984.5,ENST00000488731.6,ENST00000528013.6,ENST00000355498.6,ENST00000372110.7,ENST00000531105.5,ENST00000456914.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219493;cosmic70=.;CLNALLELEID=432989;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.9352;1000g2015aug_all=0.935304;esp6500siv2_all=0.9263;ExAC_ALL=0.9245;ExAC_AFR=0.9582;ExAC_AMR=0.9562;ExAC_EAS=0.8938;ExAC_FIN=0.9757;ExAC_NFE=0.9152;ExAC_OTH=0.9327;ExAC_SAS=0.9160;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2420,224,0 1 45797505 rs3219489 C G 2168.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=exonic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MUTYH:NM_001350650:exon11:c.G585C:p.Q195H,MUTYH:NM_001350651:exon11:c.G585C:p.Q195H,MUTYH:NM_001048171:exon12:c.G972C:p.Q324H,MUTYH:NM_001048172:exon12:c.G933C:p.Q311H,MUTYH:NM_001048173:exon12:c.G930C:p.Q310H,MUTYH:NM_001048174:exon12:c.G930C:p.Q310H,MUTYH:NM_001128425:exon12:c.G1014C:p.Q338H,MUTYH:NM_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H;Gencode=Name\x3eENST00000372110.7,ENST00000531105.5,ENST00000456914.6,ENST00000372115.7,ENST00000488731.6,ENST00000529984.5,ENST00000355498.6,ENST00000528013.6,ENST00000450313.5,ENST00000354383.10,ENST00000372104.5,ENST00000372098.7,ENST00000448481.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219489;cosmic70=.;CLNALLELEID=50206;CLNDN=Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis|not_specified|not_provided;CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0699790,OMIM:114500,SNOMED_CT:269533000|MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.4841;1000g2015aug_all=0.313498;esp6500siv2_all=0.2541;ExAC_ALL=0.2967;ExAC_AFR=0.2846;ExAC_AMR=0.5312;ExAC_EAS=0.4303;ExAC_FIN=0.2429;ExAC_NFE=0.2600;ExAC_OTH=0.3011;ExAC_SAS=0.2448;SIFT_score=0.168;SIFT_pred=T;Polyphen2_HDIV_score=0.343;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.086;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=0.743;MutationTaster_pred=P;MutationAssessor_score=2.665;MutationAssessor_pred=M;FATHMM_score=3.23;FATHMM_pred=T;phyloP100way_vertebrate=-0.265;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=2.473;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2197,180,0 1 45798555 rs3219487 T C 4682.77 PASS AC=2;AF=1;AN=2;DP=133;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.095;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=intronic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354383.10,ENST00000448481.5,ENST00000372098.7,ENST00000372104.5,ENST00000450313.5,ENST00000488731.6,ENST00000529984.5,ENST00000372115.7,ENST00000355498.6,ENST00000528013.6,ENST00000372110.7,ENST00000456914.6,ENST00000531105.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219487;cosmic70=.;CLNALLELEID=249965;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9366;1000g2015aug_all=0.937101;esp6500siv2_all=0.9303;ExAC_ALL=0.9255;ExAC_AFR=0.9653;ExAC_AMR=0.9565;ExAC_EAS=0.8881;ExAC_FIN=0.9764;ExAC_NFE=0.9159;ExAC_OTH=0.9372;ExAC_SAS=0.9161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,133:133:99:4711,399,0 1 45800033 rs3219485 T C 571.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.237;DP=33;ExcessHet=3.0103;FS=3.326;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-1.125;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=intronic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531105.5,ENST00000456914.6,ENST00000372110.7,ENST00000528013.6,ENST00000355498.6,ENST00000372115.7,ENST00000529984.5,ENST00000488731.6,ENST00000450313.5,ENST00000372098.7,ENST00000372104.5,ENST00000448481.5,ENST00000354383.10;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219485;cosmic70=.;CLNALLELEID=249966;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00938498;esp6500siv2_all=0.0253;ExAC_ALL=0.0248;ExAC_AFR=0.0054;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0299;ExAC_NFE=0.0372;ExAC_OTH=0.0154;ExAC_SAS=0.0108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,20:33:99:600,0,364 1 45803729 rs141502023 G C 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.035;DP=37;ExcessHet=3.0103;FS=1.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.789;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=intronic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529984.5,ENST00000488731.6,ENST00000372115.7,ENST00000528013.6,ENST00000355498.6,ENST00000372110.7,ENST00000456914.6,ENST00000531105.5,ENST00000354383.10,ENST00000448481.5,ENST00000372098.7,ENST00000372104.5,ENST00000450313.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e949\x3bName\x3e"104313:L2a(LINE)";avsnp150=rs141502023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00938498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,15:37:99:515,0,637 1 45804050 rs3219472 C T 1244.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUTYH;Func=intronic;Gene=NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_012222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528013.6,ENST00000355498.6,ENST00000529984.5,ENST00000488731.6,ENST00000372115.7,ENST00000456914.6,ENST00000531105.5,ENST00000372110.7,ENST00000448481.5,ENST00000372098.7,ENST00000372104.5,ENST00000354383.10,ENST00000450313.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e409\x3bName\x3e"104314:L2b(LINE)";avsnp150=rs3219472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.4827;1000g2015aug_all=0.304313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1273,111,0 1 45805566 rs3219468 G C 2194.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=0.84;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOE1,MUTYH;Func=UTR5;Gene=NM_025077;GeneDetail=NM_025077:c.-359G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372115.7,ENST00000529984.5,ENST00000372090.5,ENST00000488731.6,ENST00000528013.6,ENST00000355498.6,ENST00000372110.7,ENST00000531105.5,ENST00000456914.6,ENST00000354383.10,ENST00000372104.5,ENST00000372098.7,ENST00000448481.5,ENST00000450313.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9856;1000g2015aug_all=0.994409;esp6500siv2_all=.;ExAC_ALL=0.9879;ExAC_AFR=0.9971;ExAC_AMR=0.9891;ExAC_EAS=1;ExAC_FIN=0.9881;ExAC_NFE=0.9822;ExAC_OTH=0.9933;ExAC_SAS=0.9951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2223,213,0 1 45806432 rs3219463 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOE1;Func=intronic;Gene=NM_025077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372090.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.487;1000g2015aug_all=0.309105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 45808863 rs9429157 G A 1552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.955;DP=125;ExcessHet=3.0103;FS=2.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.003;SOR=0.926;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOE1;Func=exonic;Gene=NM_025077;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TOE1:NM_025077:exon8:c.G1022A:p.R341H;Gencode=Name\x3eENST00000372090.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9429157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00958466;esp6500siv2_all=0.0254;ExAC_ALL=0.0249;ExAC_AFR=0.0067;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0.0299;ExAC_NFE=0.0372;ExAC_OTH=0.0155;ExAC_SAS=0.0108;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.993;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.832;MutationTaster_pred=D;MutationAssessor_score=1.82;MutationAssessor_pred=L;FATHMM_score=1.22;FATHMM_pred=T;phyloP100way_vertebrate=1.666;phyloP20way_mammalian=0.073;SiPhy_29way_logOdds=5.710;gerp++gt2=3.78;CADD=1.717;CADD_Phred=14.50;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,56:124:99:1581,0,1900 1 45810923 rs3893383 G A 3013.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.121;DP=184;ExcessHet=3.0103;FS=3.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.337;SOR=0.476;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=exonic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TESK2:NM_001320800:exon10:c.C1056T:p.P352P,TESK2:NM_007170:exon11:c.C1305T:p.P435P;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3893383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.1095;1000g2015aug_all=0.174121;esp6500siv2_all=0.1491;ExAC_ALL=0.1170;ExAC_AFR=0.2574;ExAC_AMR=0.1048;ExAC_EAS=0.2085;ExAC_FIN=0.0676;ExAC_NFE=0.0933;ExAC_OTH=0.1169;ExAC_SAS=0.1107;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,103:184:99:3042,0,2160 1 45813034 rs9429073 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372084.5,ENST00000372086.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2136\x3bName\x3e"104324:AluSz(SINE)";avsnp150=rs9429073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.5072;1000g2015aug_all=0.419129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45813441 rs2298018 T C 2017.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.2;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.5072;1000g2015aug_all=0.41893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:2046,165,0 1 45813820 rs2153607 G A 1010.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2153607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.5058;1000g2015aug_all=0.41873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1039,78,0 1 45813941 rs2153608 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372084.5,ENST00000372086.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e346\x3bName\x3e"104325:L2a(LINE)";avsnp150=rs2153608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.5072;1000g2015aug_all=0.419129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 45864695 rs7532762 C A 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372084.5,ENST00000372086.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.531;1000g2015aug_amr=0.3631;1000g2015aug_all=0.370407;esp6500siv2_all=.;ExAC_ALL=0.2477;ExAC_AFR=0.4728;ExAC_AMR=0.2045;ExAC_EAS=0.3864;ExAC_FIN=.;ExAC_NFE=0.2543;ExAC_OTH=0.2807;ExAC_SAS=0.2372;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 45880669 rs12097497 C T 2232.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.819;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.272;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.3429;1000g2015aug_all=0.281749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2261,210,0 1 45887288 rs3790582 T C 476.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.272;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.2632;1000g2015aug_amr=0.3429;1000g2015aug_all=0.287939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:505,42,0 1 45899114 rs61788261 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTESK2;Func=intronic;Gene=NM_001320800,NM_007170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372086.3,ENST00000372084.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4193\x3bName\x3e"104587:L1MA4A(LINE)";avsnp150=rs61788261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.3429;1000g2015aug_all=0.283746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 45961955 rs937290 A G 1230.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.43;SOR=3.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_intronic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626657.2,ENST00000629482.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs937290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.771;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.8372;1000g2015aug_all=0.822484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1259,105,0 1 45962409 rs11211124 T C 372.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_intronic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626657.2,ENST00000629482.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.3242;1000g2015aug_all=0.267971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:401,30,0 1 45962894 rs61788289 T G 906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.627;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-0.811;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_intronic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626657.2,ENST00000629482.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2114\x3bName\x3e"104786:AluSx1(SINE)";avsnp150=rs61788289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0504;1000g2015aug_all=0.0221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,30:49:99:935,0,566 1 45963249 rs12066142 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_intronic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629482.2,ENST00000626657.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6579\x3bName\x3e"104787:SVA_D(Retroposon)";avsnp150=rs12066142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.3242;1000g2015aug_all=0.267772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 45964238 rs7543076 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_intronic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626657.2,ENST00000629482.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.8372;1000g2015aug_all=0.82528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 45965340 rs7546268 T C 1912.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_exonic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626657.2,ENST00000629482.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7546268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.8372;1000g2015aug_all=0.82528;esp6500siv2_all=0.7076;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1941,165,0 1 45965703 rs3748643 G T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC163P;Func=ncRNA_exonic;Gene=NR_033296,NR_033297,NR_033298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.8372;1000g2015aug_all=0.82528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 45974159 rs142351658 C G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.335;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=1.063;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMMACHC;Func=intronic;Gene=NM_001330540,NM_015506;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616135.1,ENST00000401061.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142351658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0129;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,127 1 45980862 rs2356561 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDX1;Func=intronic;Gene=NM_001202431,NM_002574,NM_181696,NM_181697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262746.5,ENST00000319248.12,ENST00000372079.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2356561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.59;1000g2015aug_amr=0.8199;1000g2015aug_all=0.744209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 45981512 rs2356559 T C 1453.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDX1;Func=intronic;Gene=NM_001202431,NM_002574,NM_181696,NM_181697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262746.5,ENST00000372079.1,ENST00000319248.12;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2356559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.774;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.8372;1000g2015aug_all=0.81849;esp6500siv2_all=.;ExAC_ALL=0.7272;ExAC_AFR=0.8169;ExAC_AMR=0.8810;ExAC_EAS=0.9265;ExAC_FIN=0.6636;ExAC_NFE=0.6644;ExAC_OTH=0.7295;ExAC_SAS=0.7374;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1482,144,0 1 45984353 rs10736426 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDX1;Func=intronic;Gene=NM_001202431,NM_002574,NM_181696,NM_181697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372079.1,ENST00000319248.12,ENST00000262746.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10736426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.8199;1000g2015aug_all=0.74401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 46015157 rs11211138 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001202431,NM_001202414;GeneDetail=dist\x3e26595\x3bdist\x3e1298;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.675;1000g2015aug_afr=0.792;1000g2015aug_amr=0.8098;1000g2015aug_all=0.805511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 46027355 rs512083 T C 426.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.447;DP=37;ExcessHet=3.0103;FS=1.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.092;SOR=0.42;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR1A1;Func=intronic;Gene=NM_001202413,NM_001202414,NM_006066,NM_153326;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372070.7,ENST00000621846.4,ENST00000471651.1,ENST00000351829.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2150\x3bName\x3e"104950:AluSz6(SINE)";avsnp150=rs512083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.6755;1000g2015aug_amr=0.5259;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:455,0,598 1 46032543 rs41269113 G A 936.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=60;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.208;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR1A1;Func=exonic;Gene=NM_001202413,NM_001202414,NM_006066,NM_153326;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AKR1A1:NM_153326:exon4:c.G207A:p.A69A,AKR1A1:NM_001202413:exon5:c.G207A:p.A69A,AKR1A1:NM_006066:exon5:c.G207A:p.A69A,AKR1A1:NM_001202414:exon6:c.G207A:p.A69A;Gencode=Name\x3eENST00000372070.7,ENST00000621846.4,ENST00000471651.1,ENST00000351829.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00678914;esp6500siv2_all=0.0225;ExAC_ALL=0.0207;ExAC_AFR=0.0049;ExAC_AMR=0.0053;ExAC_EAS=0;ExAC_FIN=0.0143;ExAC_NFE=0.0319;ExAC_OTH=0.0067;ExAC_SAS=0.0101;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,28:60:99:965,0,1079 1 46032974 rs2088102 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.465;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKR1A1;Func=intronic;Gene=NM_001202413,NM_001202414,NM_006066,NM_153326;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351829.8,ENST00000471651.1,ENST00000621846.4,ENST00000372070.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2088102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.5202;1000g2015aug_all=0.528754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,181 1 46035760 rs3014216 A T 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=-0.908;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001202413,NM_001202414,NM_006066,NM_153326;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.5086;1000g2015aug_all=0.500399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:334,0,167 1 46057144 rs2991981 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351223.7,ENST00000350030.7,ENST00000372052.8,ENST00000629893.1,ENST00000537798.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1732\x3bName\x3e"105023:AluJr4(SINE)";avsnp150=rs2991981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.6484;1000g2015aug_all=0.664137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 46073489 rs2230657 G A 1500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.345;DP=112;ExcessHet=3.0103;FS=2.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.074;SOR=0.75;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=exonic;Gene=NM_001195193,NM_002482;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NASP:NM_001195193:exon4:c.G714A:p.P238P,NASP:NM_002482:exon6:c.G906A:p.P302P;Gencode=Name\x3eENST00000351223.7,ENST00000372052.8,ENST00000537798.5,ENST00000350030.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.5346;1000g2015aug_all=0.573482;esp6500siv2_all=0.5406;ExAC_ALL=0.5181;ExAC_AFR=0.6717;ExAC_AMR=0.5724;ExAC_EAS=0.6109;ExAC_FIN=0.4862;ExAC_NFE=0.4794;ExAC_OTH=0.5155;ExAC_SAS=0.5047;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,52:112:99:1529,0,1823 1 46078630 rs2050376 A G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351223.7,ENST00000350030.7,ENST00000537798.5,ENST00000372052.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2050376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6527;1000g2015aug_all=0.679113;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 46078854 rs2230658 A G 437.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.108;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.03;SOR=0.754;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=exonic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S;Gencode=Name\x3eENST00000351223.7,ENST00000350030.7,ENST00000537798.5,ENST00000372052.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6527;1000g2015aug_all=0.679113;esp6500siv2_all=0.7203;ExAC_ALL=0.6993;ExAC_AFR=0.7540;ExAC_AMR=0.6591;ExAC_EAS=0.6344;ExAC_FIN=0.7739;ExAC_NFE=0.7087;ExAC_OTH=0.7122;ExAC_SAS=0.6582;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,18:27:99:466,0,261 1 46078884 rs2230659 C T 422.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.659;DP=27;ExcessHet=3.0103;FS=3.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.444;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=exonic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T;Gencode=Name\x3eENST00000537798.5,ENST00000372052.8,ENST00000350030.7,ENST00000351223.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.6499;1000g2015aug_all=0.678315;esp6500siv2_all=0.7192;ExAC_ALL=0.6996;ExAC_AFR=0.7516;ExAC_AMR=0.6582;ExAC_EAS=0.6348;ExAC_FIN=0.7743;ExAC_NFE=0.7095;ExAC_OTH=0.7168;ExAC_SAS=0.6590;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,16:27:99:451,0,310 1 46080300 rs3014248 A T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372052.8,ENST00000537798.5,ENST00000350030.7,ENST00000351223.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2431\x3bName\x3e"105074:AluSg(SINE)";avsnp150=rs3014248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6542;1000g2015aug_all=0.6875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 46080530 rs2991985 T C 298.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.434;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.907;SOR=0.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351223.7,ENST00000350030.7,ENST00000537798.5,ENST00000372052.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2991985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6468;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.5182;1000g2015aug_amr=0.5173;1000g2015aug_all=0.528754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:327,0,310 1 46080947 rs1972410 A C 431.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.573;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.018;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350030.7,ENST00000537798.5,ENST00000372052.8,ENST00000351223.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1972410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6542;1000g2015aug_all=0.6875;esp6500siv2_all=0.7224;ExAC_ALL=0.7073;ExAC_AFR=0.7551;ExAC_AMR=0.6640;ExAC_EAS=0.6677;ExAC_FIN=0.7836;ExAC_NFE=0.7156;ExAC_OTH=0.7185;ExAC_SAS=0.6635;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:460,0,413 1 46081940 rs2356581 T A 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.28;DP=54;ExcessHet=3.0103;FS=1.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.58;SOR=0.452;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350030.7,ENST00000372052.8,ENST00000537798.5,ENST00000351223.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2356581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9899;1000g2015aug_all=0.984824;esp6500siv2_all=0.9678;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,27:54:99:610,0,693 1 46081960 rs2253862 C T 588.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.504;DP=52;ExcessHet=3.0103;FS=1.05;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.247;SOR=0.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351223.7,ENST00000350030.7,ENST00000537798.5,ENST00000372052.8;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6542;1000g2015aug_all=0.685503;esp6500siv2_all=0.7219;ExAC_ALL=0.7063;ExAC_AFR=0.7537;ExAC_AMR=0.6640;ExAC_EAS=0.6561;ExAC_FIN=0.7840;ExAC_NFE=0.7158;ExAC_OTH=0.7192;ExAC_SAS=0.6622;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,27:52:99:617,0,706 1 46082431 rs2991988 C A 320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=37;ExcessHet=3.0103;FS=1.314;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-1.028;SOR=1.123;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372052.8,ENST00000537798.5,ENST00000350030.7,ENST00000351223.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2991988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6542;1000g2015aug_all=0.685503;esp6500siv2_all=0.7173;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:349,0,562 1 46082965 rs2991989 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNASP;Func=intronic;Gene=NM_001195193,NM_002482,NM_152298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351223.7,ENST00000372052.8,ENST00000537798.5,ENST00000350030.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2991989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.6542;1000g2015aug_all=0.685903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 46085852 rs2275085 C T 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=23;ExcessHet=3.0103;FS=3.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.062;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=UTR3;Gene=NM_001114938,NM_001190182;GeneDetail=NM_001114938:c.*95G>A\x3bNM_001190182:c.*95G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528266.5,ENST00000421127.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.6527;1000g2015aug_all=0.678115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:317,0,406 1 46085879 rs2275086 C G 517.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.315;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-1.456;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=UTR3;Gene=NM_001114938,NM_001190182;GeneDetail=NM_001114938:c.*68G>C\x3bNM_001190182:c.*68G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421127.6,ENST00000528266.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.6527;1000g2015aug_all=0.685304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:546,0,484 1 46086077 rs3014246 C T 1659.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.348;DP=126;ExcessHet=3.0103;FS=2.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.977;SOR=0.84;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=exonic;Gene=NM_001114938,NM_001190182;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC17:NM_001114938:exon13:c.G1739A:p.S580N,CCDC17:NM_001190182:exon13:c.G1712A:p.S571N;Gencode=Name\x3eENST00000528266.5,ENST00000445048.2,ENST00000421127.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.6542;1000g2015aug_all=0.686502;esp6500siv2_all=0.7198;ExAC_ALL=0.7094;ExAC_AFR=0.75;ExAC_AMR=0.6668;ExAC_EAS=0.6771;ExAC_FIN=0.7828;ExAC_NFE=0.7159;ExAC_OTH=0.7254;ExAC_SAS=0.6696;SIFT_score=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.25;FATHMM_pred=T;phyloP100way_vertebrate=-0.292;phyloP20way_mammalian=-0.563;SiPhy_29way_logOdds=6.069;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,61:126:99:1688,0,1592 1 46086913 rs3014245 C T 630.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.304;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.12;SOR=0.801;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=intronic;Gene=NM_001114938,NM_001190182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528266.5,ENST00000445048.2,ENST00000421127.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6556;1000g2015aug_all=0.685703;esp6500siv2_all=0.7241;ExAC_ALL=0.7291;ExAC_AFR=0.7726;ExAC_AMR=0.7163;ExAC_EAS=0.7046;ExAC_FIN=0.8120;ExAC_NFE=0.7354;ExAC_OTH=0.7112;ExAC_SAS=0.6812;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,20:43:99:659,0,759 1 46087577 rs3014242 G A 1791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.427;DP=117;ExcessHet=3.0103;FS=7.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.576;SOR=0.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=exonic;Gene=NM_001114938,NM_001190182;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC17:NM_001114938:exon8:c.C1058T:p.P353L,CCDC17:NM_001190182:exon8:c.C1031T:p.P344L;Gencode=Name\x3eENST00000445048.2,ENST00000421127.6,ENST00000528266.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.6542;1000g2015aug_all=0.677117;esp6500siv2_all=0.7194;ExAC_ALL=0.7094;ExAC_AFR=0.7628;ExAC_AMR=0.6744;ExAC_EAS=0.6419;ExAC_FIN=0.7834;ExAC_NFE=0.7156;ExAC_OTH=0.7220;ExAC_SAS=0.6794;SIFT_score=0.216;SIFT_pred=T;Polyphen2_HDIV_score=0.061;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.016;MutationTaster_pred=P;MutationAssessor_score=1.355;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_pred=T;phyloP100way_vertebrate=0.720;phyloP20way_mammalian=0.128;SiPhy_29way_logOdds=5.746;gerp++gt2=2.19;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,69:117:99:1820,0,1284 1 46087879 rs3014241 A G 1833.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.163;DP=122;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.179;SOR=0.725;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=intronic;Gene=NM_001114938,NM_001190182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528266.5,ENST00000445048.2,ENST00000421127.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.6542;1000g2015aug_all=0.685503;esp6500siv2_all=0.7206;ExAC_ALL=0.7211;ExAC_AFR=0.7589;ExAC_AMR=0.6913;ExAC_EAS=0.6981;ExAC_FIN=0.7940;ExAC_NFE=0.7260;ExAC_OTH=0.7347;ExAC_SAS=0.6785;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,64:122:99:1862,0,1550 1 46089225 rs3014240 C G 834.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.381;DP=72;ExcessHet=3.0103;FS=1.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.117;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC17;Func=intronic;Gene=NM_001114938,NM_001190182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528266.5,ENST00000421127.6,ENST00000445048.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6556;1000g2015aug_all=0.685503;esp6500siv2_all=.;ExAC_ALL=0.6917;ExAC_AFR=0.7748;ExAC_AMR=0.6732;ExAC_EAS=0.6900;ExAC_FIN=0.8333;ExAC_NFE=0.7118;ExAC_OTH=0.6923;ExAC_SAS=0.6661;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,34:72:99:863,0,962 1 46093692 rs1135850 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=UTR3;Gene=NM_021639;GeneDetail=NM_021639:c.*236C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290795.7,ENST00000355105.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23\x3bName\x3e"105094:(TG)n(Simple_repeat)";avsnp150=rs1135850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3075;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.267;1000g2015aug_amr=0.3444;1000g2015aug_all=0.3125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 46093869 rs114265929 T G 554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.67;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=0.269;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=UTR3;Gene=NM_021639;GeneDetail=NM_021639:c.*59A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355105.7,ENST00000290795.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114265929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.0318;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0153754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:583,0,344 1 46094027 rs1250 A G 707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.111;DP=47;ExcessHet=3.0103;FS=8.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.289;SOR=1.959;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=exonic;Gene=NM_021639;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPBP1L1:NM_021639:exon13:c.T1326C:p.S442S;Gencode=Name\x3eENST00000355105.7,ENST00000290795.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.3458;1000g2015aug_all=0.322484;esp6500siv2_all=0.2809;ExAC_ALL=0.3009;ExAC_AFR=0.2469;ExAC_AMR=0.3391;ExAC_EAS=0.3683;ExAC_FIN=0.2250;ExAC_NFE=0.2898;ExAC_OTH=0.2841;ExAC_SAS=0.3493;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,26:47:99:736,0,572 1 46094236 rs4391704 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=intronic;Gene=NM_021639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355105.7,ENST00000290795.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e454\x3bName\x3e"105095:MER5A1(DNA)";avsnp150=rs4391704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.6362;1000g2015aug_amr=0.6369;1000g2015aug_all=0.561102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 46095272 rs1135812 T C 625.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.266;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.128;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=exonic;Gene=NM_021639;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPBP1L1:NM_021639:exon12:c.A1248G:p.K416K;Gencode=Name\x3eENST00000290795.7,ENST00000355105.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.409;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.267;1000g2015aug_amr=0.3473;1000g2015aug_all=0.319089;esp6500siv2_all=0.2816;ExAC_ALL=0.3049;ExAC_AFR=0.2471;ExAC_AMR=0.3386;ExAC_EAS=0.3464;ExAC_FIN=0.2623;ExAC_NFE=0.2939;ExAC_OTH=0.2941;ExAC_SAS=0.3584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,25:54:99:654,0,776 1 46095976 rs6703748 G A 340.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.316;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.165;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=intronic;Gene=NM_021639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290795.7,ENST00000355105.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3075;1000g2015aug_sas=0.408;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.267;1000g2015aug_amr=0.3473;1000g2015aug_all=0.317093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,12:22:99:369,0,318 1 46124527 rs10890337 C T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.006;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=intronic;Gene=NM_021639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290795.7,ENST00000355105.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1873\x3bName\x3e"105156:AluJb(SINE)";avsnp150=rs10890337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.267;1000g2015aug_amr=0.3473;1000g2015aug_all=0.326078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 46124558 rs10789468 A G 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.413;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=intronic;Gene=NM_021639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290795.7,ENST00000355105.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1873\x3bName\x3e"105156:AluJb(SINE)";avsnp150=rs10789468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.3573;1000g2015aug_all=0.357228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:253,0,211 1 46124663 rs6671802 A G 898.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.47;DP=64;ExcessHet=3.0103;FS=8.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.081;SOR=1.81;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPBP1L1;Func=intronic;Gene=NM_021639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355105.7,ENST00000290795.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.4942;1000g2015aug_all=0.503395;esp6500siv2_all=0.5463;ExAC_ALL=0.5187;ExAC_AFR=0.5763;ExAC_AMR=0.4445;ExAC_EAS=0.3745;ExAC_FIN=0.5619;ExAC_NFE=0.5365;ExAC_OTH=0.5253;ExAC_SAS=0.5201;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,30:63:99:927,0,938 1 46160260 rs6658700 C T 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.281;DP=17;ExcessHet=3.0103;FS=4.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.976;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPP;Func=intronic;Gene=NM_001145349;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.3473;1000g2015aug_all=0.319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:175,0,299 1 46165539 rs116792274 C T 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.368;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPP;Func=UTR3;Gene=NM_005897;GeneDetail=NM_005897:c.*99G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396478.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116792274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00738818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,221 1 46166861 rs4564187 G C 88.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.21;SOR=0.707;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPP;Func=intronic;Gene=NM_001145349,NM_005897;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396478.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e483\x3bName\x3e"105253:MER58C(DNA)";avsnp150=rs4564187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.3473;1000g2015aug_all=0.32508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:117,0,24 1 46195375 rs28375469 T C 565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.376;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.367;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPP;Func=exonic;Gene=NM_001145349,NM_005897;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IPP:NM_001145349:exon4:c.A791G:p.K264R,IPP:NM_005897:exon4:c.A791G:p.K264R;Gencode=Name\x3eENST00000396478.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28375469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.3473;1000g2015aug_all=0.314896;esp6500siv2_all=0.2794;ExAC_ALL=0.3040;ExAC_AFR=0.2406;ExAC_AMR=0.3380;ExAC_EAS=0.3433;ExAC_FIN=0.2617;ExAC_NFE=0.2933;ExAC_OTH=0.2958;ExAC_SAS=0.3603;SIFT_score=0.221;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-0.63;FATHMM_pred=T;phyloP100way_vertebrate=7.603;phyloP20way_mammalian=1.058;SiPhy_29way_logOdds=16.167;gerp++gt2=5.81;CADD=1.993;CADD_Phred=16.17;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,23:42:99:594,0,496 1 46290477 rs6697830 C A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.3775;1000g2015aug_all=0.36861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 46297599 rs61783201 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2417\x3bName\x3e"105649:AluSz(SINE)";avsnp150=rs61783201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 46347875 rs56242896 A T 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=0;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2442\x3bName\x3e"105759:AluY(SINE)";avsnp150=rs56242896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9986;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:44:73,0,44 1 46347910 rs6665193 G A 489.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.863;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.866;1000g2015aug_all=0.874401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:518,42,0 1 46348229 rs11211217 C G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.057;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.819;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.3804;1000g2015aug_all=0.377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,114 1 46351719 rs7550746 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e930\x3bName\x3e"105767:AluJo(SINE)";avsnp150=rs7550746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.4784;1000g2015aug_all=0.483027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 46379518 rs4256763 A G 4401.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.763;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4256763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.863;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.866;1000g2015aug_all=0.874201;esp6500siv2_all=.;ExAC_ALL=0.8121;ExAC_AFR=0.8835;ExAC_AMR=0.7360;ExAC_EAS=0.9903;ExAC_FIN=0.5;ExAC_NFE=0.7705;ExAC_OTH=0.7705;ExAC_SAS=0.8245;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,147:147:99:4430,441,0 1 46383020 rs41286710 C T 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.938;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.43;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41286710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0251597;esp6500siv2_all=0.0364;ExAC_ALL=0.0432;ExAC_AFR=0.0183;ExAC_AMR=0.0096;ExAC_EAS=0.0095;ExAC_FIN=0.0751;ExAC_NFE=0.0500;ExAC_OTH=0.0318;ExAC_SAS=0.0597;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:407,0,591 1 46424864 rs34102169 G T 188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.084;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.204;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34102169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.4813;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:217,0,292 1 46424964 rs4460582 G A 1136.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4460582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:96:1165,96,0 1 46466721 rs11589562 T C 1200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.853;DP=78;ExcessHet=3.0103;FS=1.938;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.531;SOR=1.005;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.4251;1000g2015aug_amr=0.4798;1000g2015aug_all=0.484026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,47:78:99:1229,0,768 1 46472153 rs6429592 G A 1103.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=6.736;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e706\x3bName\x3e"106061:MER58A(DNA)";avsnp150=rs6429592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.863;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.8674;1000g2015aug_all=0.874401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1132,84,0 1 46473902 rs3922886 A T 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.133;DP=17;ExcessHet=3.0103;FS=6.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.654;SOR=3.003;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3922886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.3833;1000g2015aug_all=0.366813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:187,0,340 1 46476587 rs11211247 T G 2372.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.863;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.8674;1000g2015aug_all=0.874401;esp6500siv2_all=0.7864;ExAC_ALL=0.7924;ExAC_AFR=0.8887;ExAC_AMR=0.8965;ExAC_EAS=0.9823;ExAC_FIN=0.6864;ExAC_NFE=0.7378;ExAC_OTH=0.7567;ExAC_SAS=0.8284;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=1.87;FATHMM_pred=T;phyloP100way_vertebrate=1.068;phyloP20way_mammalian=-0.348;SiPhy_29way_logOdds=5.815;gerp++gt2=2.69;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2401,216,0 1 46485548 rs946529 G T 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.55;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.308;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.4251;1000g2015aug_amr=0.4813;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:193,0,418 1 46485562 rs946528 C T 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.086;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-0.628;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.528;1000g2015aug_amr=0.6066;1000g2015aug_all=0.620607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:161,0,377 1 46487277 rs946525 A T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.528;1000g2015aug_amr=0.6153;1000g2015aug_all=0.624601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 46487552 rs2275426 G A 1066.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.421;DP=69;ExcessHet=3.0103;FS=3.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-1.021;SOR=0.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBody_mass_index;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.4813;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,29:69:99:1095,0,2505 1 46487560 rs946524 A G 1218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.099;DP=75;ExcessHet=3.0103;FS=3.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-1.757;SOR=0.385;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.528;1000g2015aug_amr=0.6153;1000g2015aug_all=0.624601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,34:75:99:1247,0,2526 1 46487976 rs4660336 T C 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.528;1000g2015aug_amr=0.6153;1000g2015aug_all=0.6248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 46491635 rs785478 C T 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.226;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-1.016;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs785478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.528;1000g2015aug_amr=0.6153;1000g2015aug_all=0.624401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,11:41:99:268,0,925 1 46493460 rs1707336 T G 701.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.141;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.408;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAST2:NM_001319245:exon17:c.T1977G:p.I659M,MAST2:NM_001324321:exon17:c.T1515G:p.I505M,MAST2:NM_015112:exon17:c.T1977G:p.I659M,MAST2:NM_001324320:exon18:c.T1998G:p.I666M;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1707336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.4827;1000g2015aug_all=0.485224;esp6500siv2_all=0.4297;ExAC_ALL=0.4612;ExAC_AFR=0.4222;ExAC_AMR=0.5379;ExAC_EAS=0.6417;ExAC_FIN=0.4194;ExAC_NFE=0.4403;ExAC_OTH=0.4444;ExAC_SAS=0.4383;SIFT_score=0.461;SIFT_pred=T;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.18;MutationAssessor_pred=L;FATHMM_score=-0.15;FATHMM_pred=T;phyloP100way_vertebrate=-0.391;phyloP20way_mammalian=0.079;SiPhy_29way_logOdds=5.749;gerp++gt2=.;CADD=2.433;CADD_Phred=19.03;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,29:54:99:730,0,677 1 46496709 rs925524 A G 721.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.167;DP=63;ExcessHet=3.0103;FS=0.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.835;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs925524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5794;1000g2015aug_amr=0.6297;1000g2015aug_all=0.64397;esp6500siv2_all=0.6898;ExAC_ALL=0.6908;ExAC_AFR=0.6040;ExAC_AMR=0.6598;ExAC_EAS=0.6837;ExAC_FIN=0.7475;ExAC_NFE=0.7159;ExAC_OTH=0.7093;ExAC_SAS=0.6423;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,29:63:99:750,0,895 1 46497500 rs9429088 T A 641.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.03;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.218;SOR=0.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=intronic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e649\x3bName\x3e"106092:MIR(SINE)";avsnp150=rs9429088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6597;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.4957;1000g2015aug_all=0.500998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,24:54:99:670,0,870 1 46498375 rs1622208 A G 1018.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.029;DP=109;ExcessHet=3.0103;FS=3.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.176;SOR=1.146;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1622208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.6441;1000g2015aug_all=0.6877;esp6500siv2_all=0.7235;ExAC_ALL=0.6971;ExAC_AFR=0.7560;ExAC_AMR=0.6570;ExAC_EAS=0.6883;ExAC_FIN=0.7457;ExAC_NFE=0.7104;ExAC_OTH=0.7042;ExAC_SAS=0.6192;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.025;phyloP20way_mammalian=-0.272;SiPhy_29way_logOdds=6.79;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,41:109:99:1047,0,1951 1 46499526 rs1052607 A G 2495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.005;DP=174;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.747;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAST2:NM_001319245:exon27:c.A3590G:p.K1197R,MAST2:NM_001324321:exon27:c.A3128G:p.K1043R,MAST2:NM_015112:exon27:c.A3590G:p.K1197R,MAST2:NM_001324320:exon28:c.A3611G:p.K1204R;Gencode=Name\x3eENST00000361297.6,ENST00000372009.3;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0795;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0461;1000g2015aug_all=0.024361;esp6500siv2_all=0.0559;ExAC_ALL=0.0538;ExAC_AFR=0.0136;ExAC_AMR=0.0381;ExAC_EAS=0.0002;ExAC_FIN=0.0739;ExAC_NFE=0.0768;ExAC_OTH=0.0657;ExAC_SAS=0.0146;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.289;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.989;MutationTaster_pred=D;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=-0.12;FATHMM_pred=T;phyloP100way_vertebrate=6.313;phyloP20way_mammalian=1.088;SiPhy_29way_logOdds=10.52;gerp++gt2=3.58;CADD=2.358;CADD_Phred=18.55;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,96:173:99:2524,0,1913 1 46500251 rs33931638 G A 852.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=58;ExcessHet=3.0103;FS=2.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.024;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAST2;Func=exonic;Gene=NM_001319245,NM_001324320,NM_001324321,NM_015112;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAST2:NM_001319245:exon29:c.G3907A:p.V1303M,MAST2:NM_001324321:exon29:c.G3448A:p.V1150M,MAST2:NM_015112:exon29:c.G3910A:p.V1304M,MAST2:NM_001324320:exon30:c.G3931A:p.V1311M;Gencode=Name\x3eENST00000372009.3,ENST00000361297.6;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs33931638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0795;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0461;1000g2015aug_all=0.024361;esp6500siv2_all=0.0560;ExAC_ALL=0.0553;ExAC_AFR=0.0140;ExAC_AMR=0.0386;ExAC_EAS=0.0005;ExAC_FIN=0.0798;ExAC_NFE=0.0788;ExAC_OTH=0.0669;ExAC_SAS=0.0145;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.514;Polyphen2_HVAR_pred=P;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=1.36;FATHMM_pred=T;phyloP100way_vertebrate=4.989;phyloP20way_mammalian=1.047;SiPhy_29way_logOdds=17.151;gerp++gt2=4.22;CADD=4.716;CADD_Phred=24.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,29:57:99:881,0,769 1 46521517 rs785468 G A 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.389;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=0.199;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3R3;Func=exonic;Gene=NM_001114172,NM_001303427,NM_001303428,NM_001328648,NM_001328649,NM_001328650,NM_001328651,NM_001328652,NM_001328653,NM_001328654,NM_003629;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIK3R3:NM_001328654:exon5:c.C423T:p.S141S,PIK3R3:NM_001328653:exon6:c.C648T:p.S216S,LOC110117498-PIK3R3:NM_001303427:exon7:c.C1029T:p.S343S,PIK3R3:NM_001328648:exon7:c.C759T:p.S253S,PIK3R3:NM_001328649:exon7:c.C759T:p.S253S,PIK3R3:NM_001328650:exon7:c.C759T:p.S253S,PIK3R3:NM_001328651:exon7:c.C759T:p.S253S,PIK3R3:NM_001328652:exon7:c.C891T:p.S297S,PIK3R3:NM_003629:exon7:c.C891T:p.S297S,PIK3R3:NM_001114172:exon8:c.C891T:p.S297S,PIK3R3:NM_001303428:exon8:c.C942T:p.S314S;Gencode=Name\x3eENST00000540385.2,ENST00000262741.9,ENST00000423209.5,ENST00000372006.5,ENST00000420542.5;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs785468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.6254;1000g2015aug_all=0.637979;esp6500siv2_all=0.6715;ExAC_ALL=0.6810;ExAC_AFR=0.6028;ExAC_AMR=0.6491;ExAC_EAS=0.6729;ExAC_FIN=0.7455;ExAC_NFE=0.7092;ExAC_OTH=0.6976;ExAC_SAS=0.6156;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:58:233,0,58 1 46521559 rs785467 A T 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.335;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-1.097;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3R3;Func=exonic;Gene=NM_001114172,NM_001303427,NM_001303428,NM_001328648,NM_001328649,NM_001328650,NM_001328651,NM_001328652,NM_001328653,NM_001328654,NM_003629;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PIK3R3:NM_001328654:exon5:c.T381A:p.N127K,PIK3R3:NM_001328653:exon6:c.T606A:p.N202K,LOC110117498-PIK3R3:NM_001303427:exon7:c.T987A:p.N329K,PIK3R3:NM_001328648:exon7:c.T717A:p.N239K,PIK3R3:NM_001328649:exon7:c.T717A:p.N239K,PIK3R3:NM_001328650:exon7:c.T717A:p.N239K,PIK3R3:NM_001328651:exon7:c.T717A:p.N239K,PIK3R3:NM_001328652:exon7:c.T849A:p.N283K,PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K,PIK3R3:NM_001303428:exon8:c.T900A:p.N300K;Gencode=Name\x3eENST00000262741.9,ENST00000372006.5,ENST00000423209.5,ENST00000420542.5,ENST00000540385.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs785467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.6412;1000g2015aug_all=0.682109;esp6500siv2_all=0.7183;ExAC_ALL=0.6940;ExAC_AFR=0.7478;ExAC_AMR=0.6556;ExAC_EAS=0.6723;ExAC_FIN=0.7453;ExAC_NFE=0.7097;ExAC_OTH=0.7048;ExAC_SAS=0.6137;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.725;MutationAssessor_pred=N;FATHMM_score=1.75;FATHMM_pred=T;phyloP100way_vertebrate=1.163;phyloP20way_mammalian=0.152;SiPhy_29way_logOdds=6.246;gerp++gt2=3.95;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:51:241,0,51 1 46598269 rs1707304 C A 751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.506;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=-1.015;SOR=0.936;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3R3;Func=UTR5;Gene=NM_001303429,NM_001328652,NM_001328653,NM_001328654,NM_003629;GeneDetail=NM_001303429:c.-645G>T\x3bNM_001328652:c.-645G>T\x3bNM_001328653:c.-55012G>T\x3bNM_001328654:c.-65660G>T\x3bNM_003629:c.-645G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262741.9,ENST00000372006.5,ENST00000423209.5,ENST00000420542.5,ENST00000540385.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1707304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.4899;1000g2015aug_all=0.497404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:780,0,1213 1 46598273 rs1707303 A C 745.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.318;DP=42;ExcessHet=3.0103;FS=1.317;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-0.466;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3R3;Func=UTR5;Gene=NM_001303429,NM_001328652,NM_001328653,NM_001328654,NM_003629;GeneDetail=NM_001303429:c.-649T>G\x3bNM_001328652:c.-649T>G\x3bNM_001328653:c.-55016T>G\x3bNM_001328654:c.-65664T>G\x3bNM_003629:c.-649T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262741.9,ENST00000420542.5,ENST00000372006.5,ENST00000423209.5,ENST00000540385.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1707303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.5855;1000g2015aug_amr=0.6282;1000g2015aug_all=0.638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,20:42:99:774,0,1273 1 46641741 rs11211261 A G 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.422;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3R3,TSPAN1;Func=intronic;Gene=NM_001303427,NM_001328655,NM_005727;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000372003.5,ENST00000540385.2,ENST00000506599.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2495\x3bName\x3e"106451:AluSc8(SINE)";avsnp150=rs11211261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.365;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.4597;1000g2015aug_all=0.410343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:291,0,170 1 46641827 rs12030928 A G 823.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.286;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.206;SOR=0.599;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN1,PIK3R3;Func=intronic;Gene=NM_001303427,NM_001328655,NM_005727;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000506599.1,ENST00000372003.5,ENST00000540385.2;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2495\x3bName\x3e"106451:AluSc8(SINE)";avsnp150=rs12030928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.3184;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,29:55:99:852,0,818 1 46655158 rs6659553 T C 3952.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=0.932;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=exonic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V;Gencode=Name\x3eENST00000371984.7,ENST00000396420.7,ENST00000371992.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659553;cosmic70=.;CLNALLELEID=177974;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.789;1000g2015aug_amr=0.987;1000g2015aug_all=0.942492;esp6500siv2_all=0.9413;ExAC_ALL=0.9838;ExAC_AFR=0.8219;ExAC_AMR=0.9926;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9911;ExAC_SAS=0.9998;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-0.625;MutationAssessor_pred=N;FATHMM_score=-1.76;FATHMM_pred=D;phyloP100way_vertebrate=5.829;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=15.028;gerp++gt2=5.92;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:3981,357,0 1 46655873 rs12116820 C T 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371984.7,ENST00000396420.7,ENST00000371992.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1733\x3bName\x3e"106481:AluY(SINE)";avsnp150=rs12116820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.3833;1000g2015aug_all=0.276957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 46657555 rs7519275 A C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371984.7,ENST00000371992.1,ENST00000396420.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2478\x3bName\x3e"106485:AluY(SINE)";avsnp150=rs7519275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 46657651 rs7521880 T C 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.779;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371992.1,ENST00000396420.7,ENST00000371984.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e698\x3bName\x3e"106486:MIR(SINE)";avsnp150=rs7521880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,376 1 46658328 rs2292484 A G 1722.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.829;DP=95;ExcessHet=3.0103;FS=4.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=0.58;SOR=1.196;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371984.7,ENST00000371992.1,ENST00000396420.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333466;esp6500siv2_all=0.3533;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,47:93:99:1751,0,2282 1 46658343 rs2292485 G A 1485.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.827;DP=80;ExcessHet=3.0103;FS=3.417;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=0.75;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371984.7,ENST00000396420.7,ENST00000371992.1;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,38:78:99:1514,0,2077 1 46659104 rs7527668 T C 1363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.065;DP=89;ExcessHet=3.0103;FS=1.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.53;SOR=1.042;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371992.1,ENST00000396420.7,ENST00000371984.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527668;cosmic70=.;CLNALLELEID=249972;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.402;1000g2015aug_all=0.367013;esp6500siv2_all=0.3805;ExAC_ALL=0.3805;ExAC_AFR=0.4587;ExAC_AMR=0.4293;ExAC_EAS=0.1562;ExAC_FIN=0.3999;ExAC_NFE=0.3689;ExAC_OTH=0.3549;ExAC_SAS=0.4489;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,46:89:99:1392,0,1276 1 46659363 rs7527935 T C 801.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.12;DP=73;ExcessHet=3.0103;FS=3.309;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.183;SOR=1.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=intronic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396420.7,ENST00000371992.1,ENST00000371984.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333466;esp6500siv2_all=0.3535;ExAC_ALL=0.3560;ExAC_AFR=0.3464;ExAC_AMR=0.3940;ExAC_EAS=0.1494;ExAC_FIN=0.3886;ExAC_NFE=0.3524;ExAC_OTH=0.3452;ExAC_SAS=0.4419;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,30:73:99:830,0,1175 1 46660295 rs2292487 T C 2548.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.621;DP=160;ExcessHet=3.0103;FS=9.811;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.864;SOR=0.281;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOMGNT1;Func=exonic;Gene=NM_001243766,NM_001290129,NM_001290130,NM_017739;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=POMGNT1:NM_001290129:exon7:c.A615G:p.K205K,POMGNT1:NM_001290130:exon7:c.A252G:p.K84K,POMGNT1:NM_001243766:exon8:c.A681G:p.K227K,POMGNT1:NM_017739:exon8:c.A681G:p.K227K;Gencode=Name\x3eENST00000371984.7,ENST00000371992.1,ENST00000396420.7;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292487;cosmic70=.;CLNALLELEID=101658;CLNDN=Muscle_eye_brain_disease|Congenital_muscular_dystrophy-dystroglycanopathy_with_mental_retardation,_type_B3|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C3|not_specified|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=MedGen:C0457133,OMIM:253280,Orphanet:ORPHA588,SNOMED_CT:277950001|MedGen:C3150412,OMIM:613151|MedGen:C3150417,OMIM:613157,Orphanet:ORPHA206564|MedGen:CN169374|MedGen:CN239202|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3963;1000g2015aug_all=0.333466;esp6500siv2_all=0.3497;ExAC_ALL=0.3549;ExAC_AFR=0.3476;ExAC_AMR=0.3922;ExAC_EAS=0.1471;ExAC_FIN=0.3838;ExAC_NFE=0.3521;ExAC_OTH=0.3436;ExAC_SAS=0.4422;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.397;phyloP20way_mammalian=-0.302;SiPhy_29way_logOdds=10.333;gerp++gt2=3.73;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,90:160:99:2577,0,1750 1 46747089 rs61784600 T C 1634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.206;DP=108;ExcessHet=3.0103;FS=11.965;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.513;SOR=1.754;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC41;Func=intronic;Gene=NM_006369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343304.10,ENST00000615587.4,ENST00000617760.4,ENST00000617190.4;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61784600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000998403;esp6500siv2_all=0.0032;ExAC_ALL=0.0029;ExAC_AFR=0.0005;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0.0083;ExAC_NFE=0.0042;ExAC_OTH=0.0023;ExAC_SAS=0.0001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,53:108:99:1663,0,1573 1 46751448 rs77417631 G A 1436.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.451;DP=91;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=1.617;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC41;Func=exonic;Gene=NM_006369;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRC41:NM_006369:exon4:c.C1081T:p.P361S;Gencode=Name\x3eENST00000617190.4,ENST00000617760.4,ENST00000615587.4,ENST00000343304.10;cytoBand=1p34.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77417631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00179712;esp6500siv2_all=0.0045;ExAC_ALL=0.0043;ExAC_AFR=0.0006;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0.0080;ExAC_NFE=0.0063;ExAC_OTH=0.0060;ExAC_SAS=0.0004;SIFT_score=0.621;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.349;LRT_pred=N;MutationTaster_score=0.981;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=0.716;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=11.986;gerp++gt2=3.79;CADD=2.414;CADD_Phred=18.91;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,50:90:99:1465,0,1150 1 46810530 rs3737744 A G 1043.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.365;DP=89;ExcessHet=3.0103;FS=0.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.083;SOR=0.567;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSUN4;Func=exonic;Gene=NM_001256127,NM_001256128,NM_199044;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NSUN4:NM_001256127:exon2:c.A4G:p.T2A,NSUN4:NM_001256128:exon2:c.A4G:p.T2A,NSUN4:NM_199044:exon2:c.A151G:p.T51A;Gencode=Name\x3eENST00000474844.5,ENST00000498008.5,ENST00000537428.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.3419;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.3559;1000g2015aug_all=0.304513;esp6500siv2_all=0.2806;ExAC_ALL=0.3227;ExAC_AFR=0.1716;ExAC_AMR=0.4057;ExAC_EAS=0.4855;ExAC_FIN=0.3136;ExAC_NFE=0.3288;ExAC_OTH=0.3436;ExAC_SAS=0.2525;SIFT_score=0.336;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.005;MutationTaster_pred=P;MutationAssessor_score=2.14;MutationAssessor_pred=M;FATHMM_score=2.54;FATHMM_pred=T;phyloP100way_vertebrate=5.674;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=15.186;gerp++gt2=5.45;CADD=2.074;CADD_Phred=16.69;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,40:89:99:1072,0,1356 1 46827214 rs324414 A C 573.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSUN4;Func=intronic;Gene=NM_001256127,NM_001256128,NM_199044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537428.2,ENST00000498008.5,ENST00000474844.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs324414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9891;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.996605;esp6500siv2_all=0.9851;ExAC_ALL=0.9877;ExAC_AFR=0.9966;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=0.9920;ExAC_NFE=0.9805;ExAC_OTH=0.9955;ExAC_SAS=0.9951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:602,48,0 1 46871986 rs324419 T C 1980.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.475;DP=154;ExcessHet=3.0103;FS=1.34;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.371;SOR=0.827;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAH;Func=exonic;Gene=NM_001441;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAAH:NM_001441:exon7:c.T897C:p.C299C;Gencode=Name\x3eENST00000243167.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs324419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.8585;1000g2015aug_amr=0.9265;1000g2015aug_all=0.884385;esp6500siv2_all=0.8418;ExAC_ALL=0.8593;ExAC_AFR=0.8552;ExAC_AMR=0.9316;ExAC_EAS=0.9979;ExAC_FIN=0.9251;ExAC_NFE=0.8407;ExAC_OTH=0.8606;ExAC_SAS=0.7871;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,71:153:99:2009,0,2273 1 46874383 rs2295633 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAH;Func=intronic;Gene=NM_001441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000243167.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.5692;1000g2015aug_all=0.605032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 46875067 rs11576941 G T 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.175;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAH;Func=intronic;Gene=NM_001441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000243167.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.3501;1000g2015aug_all=0.290535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:171,0,205 1 46879027 rs41294524 G A 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.222;DP=26;ExcessHet=3.0103;FS=6.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.515;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAH;Func=intronic;Gene=NM_001441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000243167.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41294524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0101837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:345,0,439 1 46885104 rs324423 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001441,NR_045483;GeneDetail=dist\x3e5584\x3bdist\x3e14395;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs324423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9642;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9885;1000g2015aug_all=0.982827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 46901546 rs1150066 C T 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAAHP1;Func=ncRNA_intronic;Gene=NR_045483;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.8268;1000g2015aug_amr=0.5879;1000g2015aug_all=0.676917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 46959628 rs10890402 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_121680,NM_172225;GeneDetail=dist\x3e44252\x3bdist\x3e13040;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.732;1000g2015aug_all=0.845647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 46976837 rs1886116 C T 2433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.303;DP=204;ExcessHet=3.0103;FS=2.478;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.172;SOR=0.872;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMBX1;Func=exonic;Gene=NM_147192,NM_172225;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DMBX1:NM_147192:exon3:c.C579T:p.P193P,DMBX1:NM_172225:exon3:c.C564T:p.P188P;Gencode=Name\x3eENST00000360032.3,ENST00000371956.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.3588;1000g2015aug_all=0.176717;esp6500siv2_all=0.3204;ExAC_ALL=0.3308;ExAC_AFR=0.0842;ExAC_AMR=0.3507;ExAC_EAS=0.0061;ExAC_FIN=0.3787;ExAC_NFE=0.4329;ExAC_OTH=0.3452;ExAC_SAS=0.2056;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,89:204:99:2462,0,3212 1 46982086 rs942250 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_172225,NR_038403;GeneDetail=dist\x3e2200\x3bdist\x3e22282;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.388;1000g2015aug_amr=0.5677;1000g2015aug_all=0.550919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 46986322 rs1267313 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_172225,NR_038403;GeneDetail=dist\x3e6436\x3bdist\x3e18046;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1267313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.5703;1000g2015aug_amr=0.6052;1000g2015aug_all=0.69389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47013180 rs10890404 A G 836.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.076;DP=94;ExcessHet=3.0103;FS=3.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=1.027;SOR=0.598;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKNCN,MKNK1-AS1;Func=ncRNA_intronic;Gene=NR_038403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396314.3,ENST00000481882.6,ENST00000602433.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10890404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.7219;1000g2015aug_all=0.509784;esp6500siv2_all=.;ExAC_ALL=0.6192;ExAC_AFR=0.4656;ExAC_AMR=0.6875;ExAC_EAS=0.3435;ExAC_FIN=0.7326;ExAC_NFE=0.7505;ExAC_OTH=0.585;ExAC_SAS=0.5369;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,36:94:99:865,0,1580 1 47013364 rs1258041 T C 1304.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKNCN,MKNK1-AS1;Func=ncRNA_intronic;Gene=NR_038403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396314.3,ENST00000481882.6,ENST00000602433.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"107370:G-rich(Low_complexity)";avsnp150=rs1258041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.9911;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9957;1000g2015aug_all=0.909345;esp6500siv2_all=0.9922;ExAC_ALL=0.9579;ExAC_AFR=0.9830;ExAC_AMR=0.9934;ExAC_EAS=0.7266;ExAC_FIN=0.9739;ExAC_NFE=0.9939;ExAC_OTH=0.9253;ExAC_SAS=0.9202;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1333,126,0 1 47042612 rs2297850 C T 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMKNK1;Func=intronic;Gene=NM_001135553,NM_003684,NM_198973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371945.8,ENST00000428112.6,ENST00000341183.9,ENST00000371946.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.3948;1000g2015aug_all=0.233027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 47087968 rs6669160 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201403,NM_022745;GeneDetail=dist\x3e5405\x3bdist\x3e12743;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.549;1000g2015aug_all=0.436701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47088116 rs6669274 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201403,NM_022745;GeneDetail=dist\x3e5553\x3bdist\x3e12595;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.5648;1000g2015aug_all=0.487021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47099346 rs723333 C A 495.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201403,NM_022745;GeneDetail=dist\x3e16783\x3bdist\x3e1365;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000576409.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs723333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.9323;1000g2015aug_all=0.749201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:524,45,0 1 47108828 rs736188 T C 795.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=intronic;Gene=NM_001042546,NM_001243728,NM_001256418,NM_022745;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000532925.5,ENST00000371937.8,ENST00000576409.5,ENST00000574428.5,ENST00000542495.5,ENST00000329231.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs736188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.9323;1000g2015aug_all=0.751597;esp6500siv2_all=0.8650;ExAC_ALL=0.9079;ExAC_AFR=0.6103;ExAC_AMR=0.9405;ExAC_EAS=0.6059;ExAC_FIN=0.9679;ExAC_NFE=0.9932;ExAC_OTH=0.9272;ExAC_SAS=0.8692;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:824,69,0 1 47109089 rs1745377 A G 761.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=intronic;Gene=NM_001042546,NM_001243728,NM_001256418,NM_022745;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000576409.5,ENST00000371937.8,ENST00000532925.5,ENST00000329231.8,ENST00000542495.5,ENST00000574428.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1745377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.5346;1000g2015aug_all=0.461062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:790,69,0 1 47109251 rs1273237 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=intronic;Gene=NM_001042546,NM_001243728,NM_001256418,NM_022745;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000574428.5,ENST00000329231.8,ENST00000542495.5,ENST00000371937.8,ENST00000532925.5,ENST00000576409.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1273237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.9851;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.9438;1000g2015aug_all=0.769968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47110668 rs1258054 G C 908.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.95;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=intronic;Gene=NM_001042546,NM_001243728,NM_001256418,NM_022745;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000574428.5,ENST00000329231.8,ENST00000542495.5,ENST00000371937.8,ENST00000532925.5,ENST00000576409.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1258054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.5346;1000g2015aug_all=0.461062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:937,78,0 1 47110712 rs1258053 C T 1405.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=intronic;Gene=NM_001042546,NM_001243728,NM_001256418,NM_022745;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371937.8,ENST00000532925.5,ENST00000576409.5,ENST00000574428.5,ENST00000329231.8,ENST00000542495.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1258053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.5346;1000g2015aug_all=0.460863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1434,126,0 1 47133811 rs11211337 T C 935.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATPAF1;Func=exonic;Gene=NM_001042546,NM_022745;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ATPAF1:NM_001042546:exon1:c.A253G:p.S85G,ATPAF1:NM_022745:exon1:c.A253G:p.S85G;Gencode=Name\x3eENST00000576409.5,ENST00000371937.8,ENST00000329231.8,ENST00000574428.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.8818;1000g2015aug_all=0.834665;esp6500siv2_all=.;ExAC_ALL=0.7343;ExAC_AFR=0.8090;ExAC_AMR=0.7857;ExAC_EAS=0.9;ExAC_FIN=.;ExAC_NFE=0.7816;ExAC_OTH=0.7093;ExAC_SAS=0.7106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.135;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.87;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=-0.061;phyloP20way_mammalian=-0.445;SiPhy_29way_logOdds=6.369;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:964,84,0 1 47138444 rs616249 C T 1540.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=4.073;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX38;Func=intronic;Gene=NM_001145474,NM_001300863,NM_001300864;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415500.1,ENST00000334122.4,ENST00000564373.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs616249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1569,123,0 1 47153855 rs11211340 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB14-AS1,EFCAB14;Func=ncRNA_intronic;Gene=NR_038827,NR_038828;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418985.1,ENST00000371933.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e303\x3bName\x3e"107664:MIRc(SINE)";avsnp150=rs11211340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.4121;1000g2015aug_all=0.272165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47264495 rs632133 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000779,NM_001099772,NM_001319161,NM_001319162,NM_001319163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs632133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.6142;1000g2015aug_amr=0.9164;1000g2015aug_all=0.851038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47283005 rs41285926 T C 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.464;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4B1;Func=intronic;Gene=NM_000779,NM_001099772,NM_001319161,NM_001319162,NM_001319163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452782.6,ENST00000614163.4,ENST00000271153.8,ENST00000371919.8,ENST00000371923.8;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e554\x3bName\x3e"107890:MIRb(SINE)";avsnp150=rs41285926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.036;1000g2015aug_all=0.0235623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:181,0,140 1 47339027 rs181148368 G A 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.74;MQRankSum=-1.029;QD=4.85;ReadPosRankSum=1.93;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4Z2P;Func=ncRNA_intronic;Gene=NR_002788;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.94887\x3bName\x3echr1:47067239;Repeat=.;avsnp150=rs181148368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:67:67,0,117 1 47350815 rs4660966 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.33;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4Z2P;Func=ncRNA_intronic;Gene=NR_002788;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.94887\x3bName\x3echr1:47067239;Repeat=Score\x3e259\x3bName\x3e"107989:L2c(LINE)";avsnp150=rs4660966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.5994;1000g2015aug_all=0.507987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47395513 rs4660363 C T 92.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.69;QD=30.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=UTR3;Gene=NM_000778,NM_001319155;GeneDetail=NM_000778:c.*274G>A\x3bNM_001319155:c.*274G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000462347.5,ENST00000310638.8,ENST00000371904.8;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=Score\x3e4723\x3bName\x3e"108052:LTR14B(LTR)";avsnp150=rs4660363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:120,9,0 1 47395973 rs1126743 G A 794.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=exonic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CYP4A11:NM_000778:exon12:c.C1374T:p.I458I,CYP4A11:NM_001319155:exon12:c.C1278T:p.I426I;Gencode=Name\x3eENST00000462347.5,ENST00000310638.8,ENST00000371904.8;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs1126743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.495;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.571486;esp6500siv2_all=0.6602;ExAC_ALL=0.7032;ExAC_AFR=0.4125;ExAC_AMR=0.6986;ExAC_EAS=0.5182;ExAC_FIN=0.7743;ExAC_NFE=0.7825;ExAC_OTH=0.7189;ExAC_SAS=0.6351;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:823,60,0 1 47396298 rs4660978 G C 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=intronic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371904.8,ENST00000310638.8,ENST00000462347.5;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs4660978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.571685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 47398743 rs3890011 G C 3447.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=intronic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310638.8,ENST00000371904.8,ENST00000371905.1,ENST00000462347.5;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs3890011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.571486;esp6500siv2_all=0.6602;ExAC_ALL=0.7019;ExAC_AFR=0.4125;ExAC_AMR=0.6987;ExAC_EAS=0.5197;ExAC_FIN=0.7741;ExAC_NFE=0.7823;ExAC_OTH=0.7159;ExAC_SAS=0.6265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:3476,274,0 1 47399415 rs28438640 C A 448.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=intronic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000462347.5,ENST00000371905.1,ENST00000371904.8,ENST00000310638.8;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs28438640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:477,36,0 1 47401424 rs2269231 A T 2378.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.06;QD=32.15;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=intronic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371904.8,ENST00000310638.8,ENST00000462347.5,ENST00000371905.1;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs2269231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2407,222,0 1 47401466 rs2269232 T C 1585.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.08;QD=31.17;SOR=3.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4A11;Func=intronic;Gene=NM_000778,NM_001319155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371905.1,ENST00000462347.5,ENST00000310638.8,ENST00000371904.8;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.955781\x3bName\x3echr1:47127552;Repeat=.;avsnp150=rs2269232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.683;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1614,135,0 1 47418326 rs11211410 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000778,NM_001320289;GeneDetail=dist\x3e11170\x3bdist\x3e8710;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5262\x3bName\x3e"108080:HERV17-int(LTR)";avsnp150=rs11211410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.7863;1000g2015aug_afr=0.3464;1000g2015aug_amr=0.6888;1000g2015aug_all=0.57508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 47540548 rs146654636 C T 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.483;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.47;MQRankSum=-1.169;QD=17.14;ReadPosRankSum=1.142;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP4Z1;Func=intronic;Gene=NM_178134;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334194.3;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.94887\x3bName\x3echr1:46838544;Repeat=.;avsnp150=rs146654636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:251,0,136 1 47726087 rs13376679 T C 543.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.629;DP=59;ExcessHet=3.0103;FS=5.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.898;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=exonic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=STIL:NM_001048166:exon16:c.A2954G:p.H985R,STIL:NM_003035:exon16:c.A2951G:p.H984R,STIL:NM_001282936:exon17:c.A2951G:p.H984R,STIL:NM_001282937:exon17:c.A2900G:p.H967R,STIL:NM_001282938:exon18:c.A2813G:p.H938R,STIL:NM_001282939:exon18:c.A2759G:p.H920R;Gencode=Name\x3eENST00000371877.7,ENST00000360380.7,ENST00000337817.9,ENST00000396221.6;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13376679;cosmic70=.;CLNALLELEID=99994;CLNDN=Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C2675187,OMIM:612703|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.184;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2161;1000g2015aug_all=0.178315;esp6500siv2_all=0.2826;ExAC_ALL=0.2421;ExAC_AFR=0.2088;ExAC_AMR=0.1315;ExAC_EAS=0.0196;ExAC_FIN=0.2360;ExAC_NFE=0.2979;ExAC_OTH=0.2572;ExAC_SAS=0.2331;SIFT_score=0.314;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.85;MutationAssessor_pred=L;FATHMM_score=2.31;FATHMM_pred=T;phyloP100way_vertebrate=0.011;phyloP20way_mammalian=0.141;SiPhy_29way_logOdds=8.299;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,22:59:99:572,0,931 1 47737485 rs12409300 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337817.9,ENST00000396221.6,ENST00000371877.7,ENST00000360380.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1140\x3bName\x3e"108599:AluSx3(SINE)";avsnp150=rs12409300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.184;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.219;1000g2015aug_all=0.198682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47746993 rs11211505 G A 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=0.549;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396221.6,ENST00000337817.9,ENST00000360380.7,ENST00000371877.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.2161;1000g2015aug_all=0.184105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 47765490 rs9436838 T C 460.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360380.7,ENST00000371877.7,ENST00000396221.6,ENST00000337817.9;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9436838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.5965;1000g2015aug_all=0.613618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:489,36,0 1 47767141 rs6689687 C A 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396221.6,ENST00000337817.9,ENST00000360380.7,ENST00000371877.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.5965;1000g2015aug_all=0.613618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 47767914 rs3125630 G A 844.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=exonic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=STIL:NM_001048166:exon4:c.C257T:p.A86V,STIL:NM_003035:exon4:c.C257T:p.A86V,STIL:NM_001282936:exon5:c.C257T:p.A86V,STIL:NM_001282937:exon5:c.C257T:p.A86V,STIL:NM_001282938:exon5:c.C257T:p.A86V,STIL:NM_001282939:exon5:c.C257T:p.A86V;Gencode=Name\x3eENST00000396221.6,ENST00000337817.9,ENST00000360380.7,ENST00000371877.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3125630;cosmic70=.;CLNALLELEID=34206;CLNDN=Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C2675187,OMIM:612703|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.5937;1000g2015aug_all=0.60643;esp6500siv2_all=0.5931;ExAC_ALL=0.5034;ExAC_AFR=0.8402;ExAC_AMR=0.5480;ExAC_EAS=0.5500;ExAC_FIN=0.3483;ExAC_NFE=0.4622;ExAC_OTH=0.4468;ExAC_SAS=0.4674;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.85;MutationAssessor_pred=N;FATHMM_score=1.87;FATHMM_pred=T;phyloP100way_vertebrate=5.354;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=10.116;gerp++gt2=5.42;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:873,90,0 1 47770441 rs3122615 A C 806.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360380.7,ENST00000371877.7,ENST00000396221.6,ENST00000337817.9;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.5937;1000g2015aug_all=0.606629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:835,60,0 1 47770466 rs3122616 T C 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.988;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=-1.481;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396221.6,ENST00000337817.9,ENST00000360380.7,ENST00000371877.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.161;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.3444;1000g2015aug_all=0.317093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,19:31:99:666,0,384 1 47770806 rs12129594 T C 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.281;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTIL;Func=intronic;Gene=NM_001048166,NM_001282936,NM_001282937,NM_001282938,NM_001282939,NM_003035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371877.7,ENST00000360380.7,ENST00000337817.9,ENST00000396221.6;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2219;1000g2015aug_all=0.179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,247 1 47799639 rs7543016 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCMPK1;Func=exonic;Gene=NM_001136140,NM_016308;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CMPK1:NM_001136140:exon1:c.G22C:p.G8R,CMPK1:NM_016308:exon1:c.G22C:p.G8R;Gencode=Name\x3eENST00000371873.9,ENST00000450808.2,ENST00000471289.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.8245;1000g2015aug_amr=0.5893;1000g2015aug_all=0.596446;esp6500siv2_all=0.5691;ExAC_ALL=0.5647;ExAC_AFR=0.7968;ExAC_AMR=0.6188;ExAC_EAS=0.6339;ExAC_FIN=0.4863;ExAC_NFE=0.5376;ExAC_OTH=0.5311;ExAC_SAS=0.4982;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.75;FATHMM_pred=T;phyloP100way_vertebrate=0.049;phyloP20way_mammalian=-0.606;SiPhy_29way_logOdds=5.518;gerp++gt2=2.91;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 47842431 rs3125648 G A 594.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCMPK1;Func=UTR3;Gene=NM_001136140,NM_016308;GeneDetail=NM_001136140:c.*14G>A\x3bNM_016308:c.*14G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371873.9,ENST00000450808.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3125648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.9769;1000g2015aug_all=0.953674;esp6500siv2_all=0.9473;ExAC_ALL=0.9847;ExAC_AFR=0.8394;ExAC_AMR=0.9934;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9890;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:623,57,0 1 47842666 rs2820981 A T 778.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.81;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCMPK1;Func=UTR3;Gene=NM_001136140,NM_016308;GeneDetail=NM_001136140:c.*249A>T\x3bNM_016308:c.*249A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450808.2,ENST00000371873.9;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.987;1000g2015aug_all=0.977236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:807,84,0 1 47863620 rs2406101 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01389;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420876.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2446\x3bName\x3e"108941:AluY(SINE)";avsnp150=rs2406101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.9135;1000g2015aug_all=0.747404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 47867846 rs17103216 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01389;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420876.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17103216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.2896;1000g2015aug_all=0.173323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 47870271 rs7528075 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01389;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420876.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.1902;1000g2015aug_all=0.159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 47881898 rs115705313 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXE3,LINC01389;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335071.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115705313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0346;1000g2015aug_all=0.014377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 47882497 rs34082359 C T 314.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.893;DP=28;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.952;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01389,FOXE3;Func=exonic;Gene=NM_012186;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FOXE3:NM_012186:exon1:c.C510T:p.A170A;Gencode=Name\x3eENST00000335071.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34082359;cosmic70=.;CLNALLELEID=190521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.2378;1000g2015aug_all=0.278554;esp6500siv2_all=0.3132;ExAC_ALL=0.3509;ExAC_AFR=0.2818;ExAC_AMR=0.2547;ExAC_EAS=0.2326;ExAC_FIN=0.2869;ExAC_NFE=0.3800;ExAC_OTH=0.3389;ExAC_SAS=0.4081;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:343,0,448 1 47883019 rs6666370 T C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01389,FOXE3;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335071.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7163;1000g2015aug_sas=0.9479;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.7709;1000g2015aug_all=0.796925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 47883024 rs2820969 A G 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXE3,LINC01389;Func=ncRNA_intronic;Gene=NR_126355;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335071.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9811;1000g2015aug_amr=1;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 47904909 rs2405913 G C 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXD2;Func=exonic;Gene=NM_004474;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FOXD2:NM_004474:exon1:c.G1102C:p.A368P;Gencode=Name\x3eENST00000334793.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2405913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.04;MutationAssessor_pred=N;FATHMM_score=-3.24;FATHMM_pred=D;phyloP100way_vertebrate=-1.362;phyloP20way_mammalian=-0.097;SiPhy_29way_logOdds=4.189;gerp++gt2=3.48;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 47961734 rs10158498 T A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e55371\x3bdist\x3e264466;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.851;1000g2015aug_amr=0.7378;1000g2015aug_all=0.803115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 47961744 rs10158499 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.78;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e55381\x3bdist\x3e264456;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.7752;1000g2015aug_all=0.81869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 47961779 rs10158500 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e55416\x3bdist\x3e264421;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.6599;1000g2015aug_all=0.671326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 48034735 rs1876599 C T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e128372\x3bdist\x3e191465;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1876599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.5908;1000g2015aug_all=0.642572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 48034778 rs2457066 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e128415\x3bdist\x3e191422;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2457066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.951;1000g2015aug_all=0.858027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48058531 rs3123796 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e152168\x3bdist\x3e167669;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3123796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.9284;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.9193;1000g2015aug_all=0.663738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48058586 rs3123797 C G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e152223\x3bdist\x3e167614;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3123797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.9284;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.9193;1000g2015aug_all=0.663738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 48082728 rs11211573 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004474,NM_001194986;GeneDetail=dist\x3e176365\x3bdist\x3e143472;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11211573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.6398;1000g2015aug_all=0.459065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48241061 rs58366003 G A 788.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.003;DP=65;ExcessHet=3.0103;FS=5.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.181;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=exonic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRABD2B:NM_001194986:exon6:c.C1130T:p.P377L;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58366003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.1412;1000g2015aug_all=0.0990415;esp6500siv2_all=.;ExAC_ALL=0.1562;ExAC_AFR=0.2708;ExAC_AMR=0.1304;ExAC_EAS=0.2647;ExAC_FIN=0.5;ExAC_NFE=0.0934;ExAC_OTH=0.125;ExAC_SAS=0.14;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.018;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.992;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=15.02;gerp++gt2=5.12;CADD=3.298;CADD_Phred=22.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,33:65:99:817,0,857 1 48260116 rs3738314 C T 814.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e200\x3bName\x3e"109858:MIR3(SINE)";avsnp150=rs3738314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.339;1000g2015aug_afr=0.202;1000g2015aug_amr=0.2954;1000g2015aug_all=0.261581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:843,63,0 1 48267524 rs2406334 T C 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2406334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.7637;1000g2015aug_all=0.717652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 48283809 rs12077849 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2,ENST00000445070.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12077849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.331;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.3026;1000g2015aug_all=0.267372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48287819 rs10789516 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25\x3bName\x3e"109921:(AC)n(Simple_repeat)";avsnp150=rs10789516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.789;1000g2015aug_amr=0.987;1000g2015aug_all=0.941693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 48292703 rs1340215 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.9928;1000g2015aug_all=0.964257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48292762 rs12083277 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.33;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.3012;1000g2015aug_all=0.266973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48317806 rs2105253 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2105253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.335;1000g2015aug_afr=0.23;1000g2015aug_amr=0.2911;1000g2015aug_all=0.272564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48392162 rs4124648 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4124648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48392287 rs7523244 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.998;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.987;1000g2015aug_all=0.956669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 48422263 rs4927266 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRABD2B;Func=intronic;Gene=NM_001194986;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606738.2;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24462\x3bName\x3e"110214:L1PA5(LINE)";avsnp150=rs4927266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.9885;1000g2015aug_all=0.961062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 48640220 rs694482 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSKINTL;Func=ncRNA_intronic;Gene=NR_026749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5572\x3bName\x3e"110617:SVA_B(Retroposon)";avsnp150=rs694482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9761;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9942;1000g2015aug_all=0.980831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 48690229 rs10788884 C A 556.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.53;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=intronic;Gene=NM_001011547,NM_001135181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438567.6,ENST00000236495.9,ENST00000533824.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.674;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.7392;1000g2015aug_all=0.63139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:585,42,0 1 48697733 rs212991 T G 1535.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=exonic;Gene=NM_001011547,NM_001135181;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M;Gencode=Name\x3eENST00000236495.9,ENST00000533824.5,ENST00000438567.6;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs212991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999401;esp6500siv2_all=0.9991;ExAC_ALL=0.9993;ExAC_AFR=1;ExAC_AMR=0.9986;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=0.999;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.485;MutationAssessor_pred=N;FATHMM_score=-2.35;FATHMM_pred=D;phyloP100way_vertebrate=1.922;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=5.718;gerp++gt2=4.05;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1564,141,0 1 48697928 rs1004833 T C 762.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.62;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=intronic;Gene=NM_001011547,NM_001135181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438567.6,ENST00000236495.9,ENST00000533824.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1004833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.4035;1000g2015aug_all=0.266773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:791,57,0 1 48699565 rs4926721 C T 272.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=intronic;Gene=NM_001011547,NM_001135181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438567.6,ENST00000533824.5,ENST00000236495.9;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.8588;1000g2015aug_all=0.746605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:301,24,0 1 48707838 rs705430 A G 646.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=intronic;Gene=NM_001011547,NM_001135181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438567.6,ENST00000533824.5,ENST00000236495.9;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e261\x3bName\x3e"110730:L2b(LINE)";avsnp150=rs705430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9942;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:675,51,0 1 48713394 rs986027 C T 426.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC5A9;Func=UTR3;Gene=NM_001011547,NM_001135181;GeneDetail=NM_001011547:c.*179C>T\x3bNM_001135181:c.*179C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236495.9,ENST00000438567.6;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e243\x3bName\x3e"110743:MIR3(SINE)";avsnp150=rs986027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.8343;1000g2015aug_all=0.673722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:455,33,0 1 48865121 rs77303590 C T 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.198;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=-2.034;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA6;Func=exonic;Gene=NM_001286238,NM_001286239,NM_019073;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA6:NM_001286239:exon6:c.G640A:p.E214K,SPATA6:NM_001286238:exon7:c.G682A:p.E228K,SPATA6:NM_019073:exon7:c.G682A:p.E228K;Gencode=Name\x3eENST00000371847.7,ENST00000371843.7,ENST00000396199.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77303590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00698882;esp6500siv2_all=0.0184;ExAC_ALL=0.0145;ExAC_AFR=0.0048;ExAC_AMR=0.0071;ExAC_EAS=0;ExAC_FIN=0.0194;ExAC_NFE=0.0208;ExAC_OTH=0.0088;ExAC_SAS=0.0068;SIFT_score=0.022;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.915;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.992;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=2.61;FATHMM_pred=T;phyloP100way_vertebrate=3.671;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=18.785;gerp++gt2=5.68;CADD=5.627;CADD_Phred=26.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:121,0,266 1 48869206 rs2253140 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA6;Func=intronic;Gene=NM_001286238,NM_001286239,NM_019073;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396199.7,ENST00000371847.7,ENST00000371843.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.9942;1000g2015aug_all=0.980232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 48869409 rs41296157 C T 285.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.368;DP=31;ExcessHet=3.0103;FS=1.489;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.463;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA6;Func=intronic;Gene=NM_001286238,NM_001286239,NM_019073;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371843.7,ENST00000371847.7,ENST00000396199.7;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41296157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0504;1000g2015aug_all=0.0301518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:314,0,544 1 49052933 rs2803277 T C 1770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.872;DP=109;ExcessHet=3.0103;FS=0.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.201;SOR=0.59;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334103.11,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e273\x3bName\x3e"111374:MIRb(SINE)";avsnp150=rs2803277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.317;1000g2015aug_all=0.34365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,59:109:99:1799,0,1443 1 49056695 rs7543402 T C 450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.441;DP=39;ExcessHet=3.0103;FS=1.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.142;SOR=1.219;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334103.11,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.3141;1000g2015aug_all=0.341653;esp6500siv2_all=0.3845;ExAC_ALL=0.4057;ExAC_AFR=0.4340;ExAC_AMR=0.3992;ExAC_EAS=0.0587;ExAC_FIN=0.3559;ExAC_NFE=0.4146;ExAC_OTH=0.4013;ExAC_SAS=0.5548;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,17:39:99:479,0,631 1 49100332 rs319983 C T 2096.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=3.219;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000334103.11,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs319983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.1755;1000g2015aug_amr=0.4914;1000g2015aug_all=0.395966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2125,171,0 1 49113319 rs319953 T C 1537.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334103.11,ENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs319953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.8759;1000g2015aug_amr=0.6066;1000g2015aug_all=0.65595;esp6500siv2_all=.;ExAC_ALL=0.6823;ExAC_AFR=0.8085;ExAC_AMR=0.7111;ExAC_EAS=0.4179;ExAC_FIN=.;ExAC_NFE=0.6827;ExAC_OTH=0.6810;ExAC_SAS=0.6835;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1566,144,0 1 49128720 rs320007 C T 1471.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5,ENST00000334103.11;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs320007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.4986;1000g2015aug_all=0.421725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1500,120,0 1 49129148 rs320008 G A 261.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs320008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.4971;1000g2015aug_all=0.421126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 1 49129204 rs320009 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e331\x3bName\x3e"111575:MIRb(SINE)";avsnp150=rs320009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.591;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.5072;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 49175476 rs320052 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2317\x3bName\x3e"111680:AluY(SINE)";avsnp150=rs320052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9775;1000g2015aug_eur=0.992;1000g2015aug_afr=0.528;1000g2015aug_amr=0.9654;1000g2015aug_all=0.858826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 49176579 rs320054 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"111683:L2c(LINE)";avsnp150=rs320054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9785;1000g2015aug_eur=0.994;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.9654;1000g2015aug_all=0.855831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 49176629 rs12069771 A C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"111683:L2c(LINE)";avsnp150=rs12069771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.9755;1000g2015aug_all=0.90655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 49176630 rs61774568 G C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"111683:L2c(LINE)";avsnp150=rs61774568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9785;1000g2015aug_eur=0.994;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.9654;1000g2015aug_all=0.85643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 49176634 rs34480305 C A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.61;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"111683:L2c(LINE)";avsnp150=rs34480305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9785;1000g2015aug_eur=0.994;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.9654;1000g2015aug_all=0.85643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 49201984 rs114450193 G A 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.006;DP=47;ExcessHet=3.0103;FS=1.159;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=-0.443;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBEND5,AGBL4;Func=exonic;Gene=NM_001302082,NM_001349793,NM_001349794,NM_001349795,NM_024603;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=BEND5:NM_001349793:exon4:c.C528T:p.G176G,BEND5:NM_001302082:exon5:c.C528T:p.G176G,BEND5:NM_024603:exon5:c.C1035T:p.G345G,BEND5:NM_001349794:exon6:c.C528T:p.G176G,BEND5:NM_001349795:exon7:c.C780T:p.G260G;Gencode=Name\x3eENST00000371833.3,ENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114450193;cosmic70=ID\x3eCOSM1343240,COSM1343239\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0036;ExAC_ALL=0.0022;ExAC_AFR=0.0011;ExAC_AMR=0.0012;ExAC_EAS=0.0005;ExAC_FIN=0.0008;ExAC_NFE=0.0035;ExAC_OTH=0.0011;ExAC_SAS=0.0002;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,30:47:99:832,0,468 1 49202240 rs4926530 T C 83.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBEND5,AGBL4;Func=intronic;Gene=NM_001302082,NM_001323573,NM_001323574,NM_001323575,NM_001349793,NM_001349794,NM_001349795,NM_024603,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371833.3,ENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.5663;1000g2015aug_all=0.582468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:111,9,0 1 49208618 rs1934393 G C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.44;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4,BEND5;Func=intronic;Gene=NM_001302082,NM_001323573,NM_001323574,NM_001323575,NM_001349793,NM_001349794,NM_001349795,NM_024603,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5,ENST00000371833.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1934393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.5245;1000g2015aug_all=0.451078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 49224584 rs1128934 G T 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.424;DP=80;ExcessHet=3.0103;FS=12.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.116;SOR=2.068;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBEND5,AGBL4;Func=exonic;Gene=NM_001302082,NM_001349793,NM_001349794,NM_001349795,NM_024603;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=BEND5:NM_001349793:exon2:c.C226A:p.R76R,BEND5:NM_001302082:exon3:c.C226A:p.R76R,BEND5:NM_024603:exon3:c.C733A:p.R245R,BEND5:NM_001349794:exon4:c.C226A:p.R76R,BEND5:NM_001349795:exon5:c.C478A:p.R160R;Gencode=Name\x3eENST00000371833.3,ENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1128934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.7795;1000g2015aug_all=0.689896;esp6500siv2_all=0.8061;ExAC_ALL=0.8008;ExAC_AFR=0.6430;ExAC_AMR=0.7542;ExAC_EAS=0.4953;ExAC_FIN=0.8497;ExAC_NFE=0.8855;ExAC_OTH=0.8098;ExAC_SAS=0.6995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,29:80:99:799,0,1345 1 49242211 rs12073598 C T 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.091;DP=12;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.65;ReadPosRankSum=1.076;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBEND5,AGBL4;Func=intronic;Gene=NM_001302082,NM_001323573,NM_001323574,NM_001323575,NM_001349793,NM_001349794,NM_001349795,NM_024603,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371838.5,ENST00000371833.3;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12073598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1597;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.1527;1000g2015aug_all=0.11901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:73:276,0,73 1 49278854 rs12074876 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e461\x3bName\x3e"111897:L2b(LINE)";avsnp150=rs12074876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.1427;1000g2015aug_all=0.0952476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 49284020 rs11205548 C A 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.908;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.088;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371836.1,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.1412;1000g2015aug_all=0.0950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:184,0,218 1 49332724 rs6703833 A C 1024.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.85;DP=69;ExcessHet=3.0103;FS=0.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.169;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371836.1,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.4395;1000g2015aug_all=0.344848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,37:69:99:1053,0,828 1 49332969 rs61785986 A G 658.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.648;DP=47;ExcessHet=3.0103;FS=1.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.83;SOR=0.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5,ENST00000371836.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61785986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.12;1000g2015aug_sas=0.456;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.4697;1000g2015aug_all=0.34365;esp6500siv2_all=0.5085;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:687,0,681 1 49469010 rs3122296 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371836.1,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2182\x3bName\x3e"112349:AluSq2(SINE)";avsnp150=rs3122296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.4728;1000g2015aug_amr=0.572;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 49670086 rs354165 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371836.1,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1678\x3bName\x3e"112741:AluJr(SINE)";avsnp150=rs354165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9425;1000g2015aug_sas=0.955;1000g2015aug_eur=0.9264;1000g2015aug_afr=0.879;1000g2015aug_amr=0.9654;1000g2015aug_all=0.928115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 49711281 rs7528510 C T 1038.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.65;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371836.1,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528510;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.4683;1000g2015aug_all=0.302117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1067,84,0 1 50162840 rs6689057 C T 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371836.1,ENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.598;1000g2015aug_all=0.509984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 50163361 rs11205639 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371836.1,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e611\x3bName\x3e"113704:ERVL-E-int(LTR)";avsnp150=rs11205639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.598;1000g2015aug_all=0.510184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 50186917 rs10788916 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371836.1,ENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3516\x3bName\x3e"113751:LTR12F(LTR)";avsnp150=rs10788916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.634;1000g2015aug_all=0.593251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 50263773 rs4926542 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5,ENST00000371836.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.6326;1000g2015aug_all=0.582867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 50311454 rs4926833 G A 2800.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=1.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371839.5,ENST00000371836.1,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=Score\x3e0.923706\x3bName\x3echr19:58063443;Repeat=.;avsnp150=rs4926833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.498;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.6167;1000g2015aug_all=0.574481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2829,231,0 1 50312200 rs4582848 A C 802.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371839.5,ENST00000371836.1;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4582848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.598;1000g2015aug_all=0.507388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:831,60,0 1 50331725 rs10788920 T C 468.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371836.1,ENST00000371839.5,ENST00000371838.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12545\x3bName\x3e"113992:L1PA10(LINE)";avsnp150=rs10788920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9063;1000g2015aug_all=0.875599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:497,39,0 1 50443589 rs9659092 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGBL4;Func=intronic;Gene=NM_001323573,NM_001323574,NM_001323575,NM_032785;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371838.5,ENST00000371836.1,ENST00000371839.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9659092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.4409;1000g2015aug_all=0.264377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 50661411 rs2480683 C T 3839.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.052;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELAVL4;Func=exonic;Gene=NM_001144774,NM_001144775,NM_001144776,NM_001144777,NM_001294348,NM_001324208,NM_001324209,NM_001324212,NM_001324213,NM_001324214,NM_001324215,NM_021952;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ELAVL4:NM_001144774:exon5:c.C687T:p.P229P,ELAVL4:NM_001144775:exon5:c.C795T:p.P265P,ELAVL4:NM_001144776:exon5:c.C687T:p.P229P,ELAVL4:NM_001144777:exon5:c.C696T:p.P232P,ELAVL4:NM_001294348:exon5:c.C702T:p.P234P,ELAVL4:NM_001324208:exon5:c.C696T:p.P232P,ELAVL4:NM_001324213:exon5:c.C702T:p.P234P,ELAVL4:NM_001324215:exon5:c.C702T:p.P234P,ELAVL4:NM_021952:exon5:c.C687T:p.P229P,ELAVL4:NM_001324209:exon6:c.C684T:p.P228P,ELAVL4:NM_001324212:exon6:c.C684T:p.P228P,ELAVL4:NM_001324214:exon6:c.C684T:p.P228P;Gencode=Name\x3eENST00000371823.8,ENST00000448907.6,ENST00000371821.5,ENST00000357083.8,ENST00000371819.1,ENST00000371824.5,ENST00000371827.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2480683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.3729;1000g2015aug_amr=0.9366;1000g2015aug_all=0.816494;esp6500siv2_all=0.7966;ExAC_ALL=0.9282;ExAC_AFR=0.4373;ExAC_AMR=0.9662;ExAC_EAS=0.9988;ExAC_FIN=0.9731;ExAC_NFE=0.9699;ExAC_OTH=0.9548;ExAC_SAS=0.9861;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:3868,362,0 1 50661688 rs2480682 T C 570.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELAVL4;Func=intronic;Gene=NM_001144774,NM_001144775,NM_001144776,NM_001144777,NM_001294348,NM_001324208,NM_001324209,NM_001324212,NM_001324213,NM_001324214,NM_001324215,NM_021952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371819.1,ENST00000371827.5,ENST00000371824.5,ENST00000448907.6,ENST00000371823.8,ENST00000357083.8,ENST00000371821.5;cytoBand=1p33;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2480682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.5817;1000g2015aug_amr=0.9582;1000g2015aug_all=0.874601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:599,48,0 1 50666515 rs2494876 C T 3232.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.11;SOR=2.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELAVL4;Func=exonic;Gene=NM_001324208,NM_001324213,NM_021952;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ELAVL4:NM_001324208:exon7:c.C817T:p.P273S,ELAVL4:NM_001324213:exon7:c.C823T:p.P275S,ELAVL4:NM_021952:exon7:c.C808T:p.P270S;Gencode=Name\x3eENST00000371819.1,ENST00000371827.5,ENST00000371824.5,ENST00000448907.6,ENST00000371823.8,ENST00000357083.8,ENST00000371821.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.8804;1000g2015aug_all=0.697085;esp6500siv2_all=0.7541;ExAC_ALL=0.8398;ExAC_AFR=0.4069;ExAC_AMR=0.8726;ExAC_EAS=0.6538;ExAC_FIN=0.8390;ExAC_NFE=0.9138;ExAC_OTH=0.8631;ExAC_SAS=0.8889;SIFT_score=0.799;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=2.89;FATHMM_pred=T;phyloP100way_vertebrate=0.846;phyloP20way_mammalian=0.065;SiPhy_29way_logOdds=9.992;gerp++gt2=3.52;CADD=1.730;CADD_Phred=14.58;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:3261,276,0 1 50847665 rs372622240 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001324208,NM_032110;GeneDetail=dist\x3e178208\x3bdist\x3e35558;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10180\x3bName\x3e"115028:SVA_D(Retroposon)";avsnp150=rs372622240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 50884230 rs1296714 G C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMRTA2;Func=UTR3;Gene=NM_032110;GeneDetail=NM_032110:c.*107C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418121.5,ENST00000404795.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1296714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.9467;1000g2015aug_all=0.891174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 50884778 . G * 404.77 PASS AC=1;AF=0.5;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.25;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMRTA2;Func=exonic;Gene=NM_032110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418121.5,ENST00000404795.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"115113:(CGG)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,5:10:99:433,193,195 1 50884778 rs2746610 G A 404.77 PASS AC=1;AF=0.5;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.25;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMRTA2;Func=exonic;Gene=NM_032110;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DMRTA2:NM_032110:exon3:c.C1188T:p.A396A;Gencode=Name\x3eENST00000418121.5,ENST00000404795.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"115113:(CGG)n(Simple_repeat)";avsnp150=rs2746610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=.;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,5:10:99:433,213,195 1 50884784 rs368034286 G A 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDMRTA2;Func=exonic;Gene=NM_032110;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DMRTA2:NM_032110:exon3:c.C1182T:p.A394A;Gencode=Name\x3eENST00000404795.3,ENST00000418121.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"115113:(CGG)n(Simple_repeat)";avsnp150=rs368034286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=0;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:192,0,228 1 50957509 rs1149790 A T 577.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.351;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.11;ReadPosRankSum=0.319;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAF1;Func=intronic;Gene=NM_007051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396153.6,ENST00000371778.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1149790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.817;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.9452;1000g2015aug_all=0.933906;esp6500siv2_all=0.9237;ExAC_ALL=0.8998;ExAC_AFR=0.9739;ExAC_AMR=0.9483;ExAC_EAS=0.9977;ExAC_FIN=0.8575;ExAC_NFE=0.8938;ExAC_OTH=0.8747;ExAC_SAS=0.8118;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,19:25:99:606,0,127 1 51121198 rs11205753 T C 897.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.073;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.375;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAF1;Func=exonic;Gene=NM_007051;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAF1:NM_007051:exon8:c.A660G:p.V220V;Gencode=Name\x3eENST00000371778.5,ENST00000396153.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0922524;esp6500siv2_all=0.0983;ExAC_ALL=0.1349;ExAC_AFR=0.0323;ExAC_AMR=0.0643;ExAC_EAS=0.0030;ExAC_FIN=0.1670;ExAC_NFE=0.1390;ExAC_OTH=0.1593;ExAC_SAS=0.2870;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,35:60:99:926,0,676 1 51376873 rs12043598 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAF1;Func=intronic;Gene=NM_007051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000396153.6,ENST00000371778.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2198\x3bName\x3e"116168:AluSz(SINE)";avsnp150=rs12043598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 51670983 rs559458 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_147076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366181.2;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2269\x3bName\x3e"116915:AluSp(SINE)";avsnp150=rs559458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.9986;1000g2015aug_all=0.982827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 51753812 rs635590 G A 798.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.445;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=1.286;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=UTR3;Gene=NM_001080494,NM_001144832,NM_001297663,NM_001297664,NM_001297665,NM_001297666,NM_001297667;GeneDetail=NM_001080494:c.*17C>T\x3bNM_001144832:c.*17C>T\x3bNM_001297663:c.*17C>T\x3bNM_001297664:c.*17C>T\x3bNM_001297665:c.*17C>T\x3bNM_001297666:c.*17C>T\x3bNM_001297667:c.*17C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447632.6,ENST00000371750.9,ENST00000530004.5,ENST00000413473.6,ENST00000262675.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs635590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0863;1000g2015aug_sas=0.319;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0879;1000g2015aug_all=0.119209;esp6500siv2_all=0.1045;ExAC_ALL=0.1512;ExAC_AFR=0.0314;ExAC_AMR=0.0718;ExAC_EAS=0.1004;ExAC_FIN=0.1626;ExAC_NFE=0.1518;ExAC_OTH=0.1527;ExAC_SAS=0.2965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,28:57:99:827,0,828 1 51767558 rs35515145 G A 471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.999;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.796;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001080494,NM_001144832,NM_001297662,NM_001297663,NM_001297664,NM_001297665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371750.9,ENST00000413473.6,ENST00000262675.11,ENST00000371747.7,ENST00000262676.9,ENST00000447632.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e200\x3bName\x3e"117194:MIRc(SINE)";avsnp150=rs35515145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0111821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:500,0,402 1 51778734 rs34964498 A G 1101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.274;DP=56;ExcessHet=3.0103;FS=5.183;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0;SOR=2.247;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001080494,NM_001144832,NM_001297662,NM_001297663,NM_001297664,NM_001297665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262676.9,ENST00000447632.6,ENST00000413473.6,ENST00000262675.11,ENST00000371747.7,ENST00000371750.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34964498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0181709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,32:56:99:1130,0,716 1 51808567 rs12072333 C T 1297.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001144832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413473.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12072333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.089;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.1657;1000g2015aug_all=0.241014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1326,105,0 1 51808623 rs35273278 C G 782.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.225;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.893;SOR=0.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001144832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413473.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35273278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0485224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,30:75:99:811,0,1314 1 51810525 rs114480846 G A 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.536;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.563;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001144832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413473.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114480846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,224 1 51810587 rs79266992 C T 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.099;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.015;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC39A;Func=intronic;Gene=NM_001144832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413473.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79266992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0263578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:301,0,285 1 51826742 rs75735499 G C 534.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.952;DP=35;ExcessHet=3.0103;FS=6.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.315;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=intronic;Gene=NM_001159969,NM_001981;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371733.7,ENST00000371730.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75735499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0413339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,16:35:99:563,0,619 1 51826921 rs17567 T C 3715.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=1.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=exonic;Gene=NM_001159969,NM_001981;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EPS15:NM_001159969:exon12:c.A1524G:p.I508M,EPS15:NM_001981:exon24:c.A2466G:p.I822M;Gencode=Name\x3eENST00000371730.6,ENST00000371733.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.09;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.1643;1000g2015aug_all=0.233427;esp6500siv2_all=0.3266;ExAC_ALL=0.2065;ExAC_AFR=0.5231;ExAC_AMR=0.1232;ExAC_EAS=0.0134;ExAC_FIN=0.1352;ExAC_NFE=0.2249;ExAC_OTH=0.1784;ExAC_SAS=0.1222;SIFT_score=0.223;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=0.98;FATHMM_pred=T;phyloP100way_vertebrate=0.699;phyloP20way_mammalian=-0.384;SiPhy_29way_logOdds=8.804;gerp++gt2=5.85;CADD=1.996;CADD_Phred=16.19;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3744,342,0 1 51869248 rs12756284 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=intronic;Gene=NM_001159969,NM_001981;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371733.7,ENST00000371730.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0453275;esp6500siv2_all=0.0878;ExAC_ALL=0.0620;ExAC_AFR=0.0805;ExAC_AMR=0.0380;ExAC_EAS=0.0001;ExAC_FIN=0.0491;ExAC_NFE=0.0811;ExAC_OTH=0.0602;ExAC_SAS=0.0253;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 51873951 rs1065754 G A 1060.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=exonic;Gene=NM_001159969,NM_001981;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y;Gencode=Name\x3eENST00000371733.7,ENST00000371730.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1065754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.7622;1000g2015aug_all=0.822684;esp6500siv2_all=0.7293;ExAC_ALL=0.7347;ExAC_AFR=0.8791;ExAC_AMR=0.8134;ExAC_EAS=0.9935;ExAC_FIN=0.7101;ExAC_NFE=0.6595;ExAC_OTH=0.6795;ExAC_SAS=0.7694;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1089,99,0 1 51912760 rs34704431 T G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.486;DP=29;ExcessHet=3.0103;FS=8.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-1.295;SOR=2.018;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=exonic;Gene=NM_001981;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPS15:NM_001981:exon10:c.A669C:p.A223A;Gencode=Name\x3eENST00000371730.6,ENST00000371733.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34704431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0469249;esp6500siv2_all=0.0478;ExAC_ALL=0.0376;ExAC_AFR=0.0868;ExAC_AMR=0.0316;ExAC_EAS=0.0123;ExAC_FIN=0.0101;ExAC_NFE=0.0330;ExAC_OTH=0.0463;ExAC_SAS=0.0534;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:445,0,286 1 51930649 rs11205849 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS15;Func=intronic;Gene=NM_001981;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371730.6,ENST00000371733.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.1643;1000g2015aug_all=0.246206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 52266242 rs8375 G A 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.266;DP=51;ExcessHet=3.0103;FS=4.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.345;SOR=1.405;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNRDC;Func=exonic;Gene=NM_001101662,NM_001242361,NM_002525;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P;Gencode=Name\x3eENST00000352171.11,ENST00000539524.5,ENST00000544028.5,ENST00000615102.1,ENST00000354831.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.5937;1000g2015aug_all=0.489018;esp6500siv2_all=0.4266;ExAC_ALL=0.5032;ExAC_AFR=0.2639;ExAC_AMR=0.6036;ExAC_EAS=0.8304;ExAC_FIN=0.5228;ExAC_NFE=0.5017;ExAC_OTH=0.5099;ExAC_SAS=0.4097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,18:51:99:448,0,851 1 52279650 rs2982846 T G 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.138;DP=22;ExcessHet=3.0103;FS=1.885;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.776;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNRDC;Func=intronic;Gene=NM_001101662,NM_001242361,NM_002525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539524.5,ENST00000544028.5,ENST00000352171.11,ENST00000615102.1,ENST00000354831.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2982846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.8271;1000g2015aug_all=0.834465;esp6500siv2_all=0.7216;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,7:22:99:161,0,347 1 52290984 rs11205896 T G 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.922;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-1.602;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNRDC;Func=exonic;Gene=NM_001101662,NM_001242361,NM_002525;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G;Gencode=Name\x3eENST00000352171.11,ENST00000539524.5,ENST00000544028.5,ENST00000615102.1,ENST00000354831.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.6009;1000g2015aug_all=0.498403;esp6500siv2_all=0.4303;ExAC_ALL=0.5039;ExAC_AFR=0.2864;ExAC_AMR=0.6053;ExAC_EAS=0.8300;ExAC_FIN=0.5121;ExAC_NFE=0.4997;ExAC_OTH=0.5110;ExAC_SAS=0.4106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:51:207,0,51 1 52293570 rs2077725 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.219;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=0.234;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNRDC;Func=intronic;Gene=NM_001101662,NM_001242361,NM_002525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352171.11,ENST00000539524.5,ENST00000544028.5,ENST00000615102.1,ENST00000354831.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2077725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.4959;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.4047;1000g2015aug_amr=0.7709;1000g2015aug_all=0.624601;esp6500siv2_all=0.5496;ExAC_ALL=0.6242;ExAC_AFR=0.4365;ExAC_AMR=0.7780;ExAC_EAS=0.9435;ExAC_FIN=0.56;ExAC_NFE=0.6182;ExAC_OTH=0.6340;ExAC_SAS=0.5143;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,3:14:71:71,0,315 1 52344414 rs736756 A C 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.124;DP=30;ExcessHet=3.0103;FS=8.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-1.032;SOR=2.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNRDC;Func=UTR5;Gene=NM_001101662,NM_002525;GeneDetail=NM_001101662:c.-127T>G\x3bNM_002525:c.-127T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354831.11,ENST00000544028.5,ENST00000352171.11;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs736756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.6066;1000g2015aug_all=0.4998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,8:30:99:239,0,666 1 52372782 rs4639700 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_002867;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4639700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.7839;1000g2015aug_all=0.820088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 52402856 rs10888741 T G 1221.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3B;Func=intronic;Gene=NM_002867;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371655.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e806\x3bName\x3e"118852:L2c(LINE)";avsnp150=rs10888741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.9539;1000g2015aug_all=0.881789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1250,120,0 1 52402956 rs10888742 G A 2490.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.488;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3B;Func=intronic;Gene=NM_002867;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371655.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.9539;1000g2015aug_all=0.881589;esp6500siv2_all=0.8819;ExAC_ALL=0.9327;ExAC_AFR=0.7250;ExAC_AMR=0.9647;ExAC_EAS=0.9997;ExAC_FIN=0.9773;ExAC_NFE=0.9526;ExAC_OTH=0.9394;ExAC_SAS=0.9071;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2519,225,0 1 52486951 rs2809922 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e439\x3bName\x3e"119132:MIRc(SINE)";avsnp150=rs2809922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.987;1000g2015aug_all=0.963658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 52489321 rs2794990 C A 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.352;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.409;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0223642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,12:32:99:301,0,555 1 52489322 rs2783178 G A 1170.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2783178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.9769;1000g2015aug_all=0.923722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:96:1199,96,0 1 52490418 rs4926906 C T 201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.989;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1073\x3bName\x3e"119141:L2a(LINE)";avsnp150=rs4926906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8214;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.8415;1000g2015aug_all=0.703674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:230,0,369 1 52494332 rs113910885 T C 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.652;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.612;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113910885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=0.0092;ExAC_ALL=0.0065;ExAC_AFR=0.0024;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0.0023;ExAC_NFE=0.0102;ExAC_OTH=0.0033;ExAC_SAS=0.0016;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,8:25:99:231,0,533 1 52494417 rs2809920 A T 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.047;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0223642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,339 1 52498370 rs2809917 C T 610.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.952;DP=45;ExcessHet=3.0103;FS=5.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.057;SOR=0.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12,KTI12;Func=exonic;Gene=NM_138417;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KTI12:NM_138417:exon1:c.G1064A:p.X355X;Gencode=Name\x3eENST00000371626.8,ENST00000371614.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.1354;1000g2015aug_all=0.220048;esp6500siv2_all=0.1961;ExAC_ALL=0.1566;ExAC_AFR=0.3767;ExAC_AMR=0.1564;ExAC_EAS=0.1814;ExAC_FIN=0.0786;ExAC_NFE=0.1136;ExAC_OTH=0.1358;ExAC_SAS=0.2287;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,24:45:99:639,0,645 1 52498861 rs2783175 A T 2481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.913;DP=204;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.637;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12,KTI12;Func=exonic;Gene=NM_138417;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KTI12:NM_138417:exon1:c.T573A:p.D191E;Gencode=Name\x3eENST00000371626.8,ENST00000371614.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2783175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1379;1000g2015aug_sas=0.0327;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0708866;esp6500siv2_all=0.0551;ExAC_ALL=0.0598;ExAC_AFR=0.0790;ExAC_AMR=0.1210;ExAC_EAS=0.1463;ExAC_FIN=0.0216;ExAC_NFE=0.0444;ExAC_OTH=0.0654;ExAC_SAS=0.0362;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.77;MutationAssessor_pred=N;FATHMM_score=0.86;FATHMM_pred=T;phyloP100way_vertebrate=-3.444;phyloP20way_mammalian=-1.270;SiPhy_29way_logOdds=7.079;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:99,105:204:99:2510,0,2632 1 52499489 rs2809916 G A 4183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.477;DP=307;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.089;SOR=0.692;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000425802.1,ENST00000610127.1,ENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:159,148:307:99:4212,0,4365 1 52507070 rs2809958 T A 435.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.075;DP=29;ExcessHet=3.0103;FS=6.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.59;SOR=2.322;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610127.1,ENST00000425802.1,ENST00000371626.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.4085;1000g2015aug_amr=0.1354;1000g2015aug_all=0.220647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:464,0,357 1 52507518 rs12759735 G A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12;Func=intronic;Gene=NM_015913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371626.8,ENST00000610127.1,ENST00000425802.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e320\x3bName\x3e"119188:MIRc(SINE)";avsnp150=rs12759735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 52517412 rs7529324 A G 527.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.935;DP=46;ExcessHet=3.0103;FS=1.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.842;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12,TXNDC12-AS1;Func=ncRNA_intronic;Gene=NR_126385;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610127.1,ENST00000371626.8,ENST00000428794.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7529324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.8415;1000g2015aug_all=0.703474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:556,0,702 1 52517804 rs2809956 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTXNDC12,TXNDC12-AS1;Func=ncRNA_intronic;Gene=NR_126385;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428794.1,ENST00000371626.8,ENST00000610127.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e302\x3bName\x3e"119229:L2c(LINE)";avsnp150=rs2809956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.9769;1000g2015aug_all=0.923323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 52798665 rs758446471 C T 521.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.1;DP=40;ExcessHet=3.0103;FS=2.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.125;SOR=0.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZFYVE9;Func=intronic;Gene=NM_004799,NM_007324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357206.6,ENST00000287727.7,ENST00000371591.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e222\x3bName\x3e"119934:MIRc(SINE)";avsnp150=rs758446471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:550,0,593 1 52810303 rs112568845 A G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.842;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZFYVE9;Func=intronic;Gene=NM_004799,NM_007324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357206.6,ENST00000287727.7,ENST00000371591.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112568845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 52819888 rs2477101 A G 454.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCC2D1B;Func=intronic;Gene=NM_001330585,NM_032449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284376.7,ENST00000371586.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"119978:MIRc(SINE)";avsnp150=rs2477101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:483,42,0 1 52820226 rs2820334 G A 2545.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=1.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCC2D1B;Func=intronic;Gene=NM_001330585,NM_032449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284376.7,ENST00000371586.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994808;esp6500siv2_all=0.9943;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2574,216,0 1 52851729 rs78572338 G A 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.994;DP=18;ExcessHet=3.0103;FS=9.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-2.356;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eORC1;Func=intronic;Gene=NM_001190818,NM_001190819,NM_004153;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371568.7,ENST00000371566.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78572338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.338;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.17;1000g2015aug_all=0.14357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:233,0,269 1 53067914 rs11810754 T G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.579;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_015696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11810754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.7104;1000g2015aug_all=0.672724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 53068093 rs11205977 G T 599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.44;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.035;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPX7;Func=exonic;Gene=NM_015696;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPX7:NM_015696:exon1:c.G12T:p.A4A;Gencode=Name\x3eENST00000361314.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"120630:(GGCTGC)n(Simple_repeat)";avsnp150=rs11205977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0479233;esp6500siv2_all=0.0621;ExAC_ALL=0.1428;ExAC_AFR=0.0660;ExAC_AMR=0.2462;ExAC_EAS=0;ExAC_FIN=0.2405;ExAC_NFE=0.2219;ExAC_OTH=0.1488;ExAC_SAS=0.0691;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,24:37:99:628,0,399 1 53072454 rs1970951 T C 5144.77 PASS AC=2;AF=1;AN=2;DP=159;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.87;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPX7;Func=exonic;Gene=NM_015696;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPX7:NM_015696:exon2:c.T237C:p.F79F;Gencode=Name\x3eENST00000361314.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1970951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.841;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.879;1000g2015aug_all=0.877995;esp6500siv2_all=0.8759;ExAC_ALL=0.8478;ExAC_AFR=0.9566;ExAC_AMR=0.8545;ExAC_EAS=0.7817;ExAC_FIN=0.8518;ExAC_NFE=0.8340;ExAC_OTH=0.8612;ExAC_SAS=0.8623;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,157:157:99:5173,471,0 1 53072741 rs1970950 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.405;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPX7;Func=intronic;Gene=NM_015696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361314.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1970950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.8012;1000g2015aug_all=0.819489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,125 1 53073838 rs11590859 G T 1118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.229;DP=94;ExcessHet=3.0103;FS=0.778;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.414;SOR=0.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPX7;Func=intronic;Gene=NM_015696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361314.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e728\x3bName\x3e"120643:MER5B(DNA)";avsnp150=rs11590859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0489217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,44:94:99:1147,0,1302 1 53081321 rs6588432 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015696,NM_001042693;GeneDetail=dist\x3e6598\x3bdist\x3e17695;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.841;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.8804;1000g2015aug_all=0.878395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 53153985 rs34987995 G A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.71;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOA7;Func=intronic;Gene=NM_023077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371538.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1937\x3bName\x3e"120905:AluJb(SINE)";avsnp150=rs34987995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0742812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,172 1 53237526 rs1571979 G A 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294353.6,ENST00000545132.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1571979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6729;1000g2015aug_all=0.714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 53238324 rs12563825 G T 412.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545132.5,ENST00000294353.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12563825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.4856;1000g2015aug_all=0.305112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:441,39,0 1 53245472 rs9661082 A T 2259.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=1.965;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294353.6,ENST00000545132.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6729;1000g2015aug_all=0.714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2288,212,0 1 53245849 rs7526275 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294353.6,ENST00000545132.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6729;1000g2015aug_all=0.714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53250650 rs6588443 G A 2798.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=exonic;Gene=NM_024646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZYG11B:NM_024646:exon5:c.G1194A:p.G398G;Gencode=Name\x3eENST00000545132.5,ENST00000294353.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6729;1000g2015aug_all=0.714856;esp6500siv2_all=0.5737;ExAC_ALL=0.5462;ExAC_AFR=0.8399;ExAC_AMR=0.7262;ExAC_EAS=0.9674;ExAC_FIN=0.4938;ExAC_NFE=0.4376;ExAC_OTH=0.5507;ExAC_SAS=0.4740;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2827,260,0 1 53250915 rs7523761 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545132.5,ENST00000294353.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.5922;1000g2015aug_all=0.529752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53271225 rs487453 T C 141.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11B;Func=intronic;Gene=NM_024646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294353.6,ENST00000545132.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2230\x3bName\x3e"121306:AluSx(SINE)";avsnp150=rs487453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.59;1000g2015aug_amr=0.5865;1000g2015aug_all=0.527556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:170,18,0 1 53323492 rs10788945 C A 1031.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=4.332;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11A;Func=intronic;Gene=NM_001004339,NM_001307931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371532.5,ENST00000612017.4,ENST00000371528.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.8977;1000g2015aug_all=0.90595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1060,81,0 1 53347172 rs370400869 T G 1047.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.688;DP=57;ExcessHet=3.0103;FS=1.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=0.602;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZYG11A;Func=exonic;Gene=NM_001004339,NM_001307931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZYG11A:NM_001307931:exon10:c.T753G:p.S251S,ZYG11A:NM_001004339:exon11:c.T1779G:p.S593S;Gencode=Name\x3eENST00000371532.5,ENST00000612017.4,ENST00000371528.1,ENST00000446786.2;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs370400869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0015;ExAC_ALL=0.0008;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,40:57:99:1076,0,322 1 53467578 rs6657985 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCP2;Func=intronic;Gene=NM_001193599,NM_001193600,NM_001193617,NM_002979;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371509.8,ENST00000528311.5,ENST00000407246.6,ENST00000371514.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2599\x3bName\x3e"121890:AluY(SINE)";avsnp150=rs6657985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.7133;1000g2015aug_all=0.799121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53513437 rs1288362 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCP2;Func=intronic;Gene=NM_001007099,NM_001007100,NM_001007250,NM_001193599,NM_001193600,NM_001193617,NM_002979;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000408941.7,ENST00000371514.7,ENST00000435345.6,ENST00000488965.1,ENST00000407246.6,ENST00000430330.6,ENST00000528311.5,ENST00000371509.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2983;1000g2015aug_all=0.249601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 53535478 rs1288386 G A 905.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PODN:NM_153703:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_001199080:exon4:c.G38A:p.R13H;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.41;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.3444;1000g2015aug_all=0.357428;esp6500siv2_all=0.3408;ExAC_ALL=0.5010;ExAC_AFR=0.2523;ExAC_AMR=0.5519;ExAC_EAS=0.6319;ExAC_FIN=0.6123;ExAC_NFE=0.5294;ExAC_OTH=0.5236;ExAC_SAS=0.4094;SIFT_score=0.099;SIFT_pred=T;Polyphen2_HDIV_score=0.345;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.02;FATHMM_pred=T;phyloP100way_vertebrate=-0.550;phyloP20way_mammalian=-0.075;SiPhy_29way_logOdds=4.504;gerp++gt2=.;CADD=1.144;CADD_Phred=11.45;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:934,90,0 1 53537266 rs1769316 G A 3099.77 PASS AC=2;AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PODN:NM_153703:exon3:c.G516A:p.T172T,PODN:NM_001199081:exon4:c.G459A:p.T153T,PODN:NM_001199080:exon5:c.G459A:p.T153T;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1769316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.4977;1000g2015aug_amr=0.6499;1000g2015aug_all=0.55611;esp6500siv2_all=0.4872;ExAC_ALL=0.5116;ExAC_AFR=0.5122;ExAC_AMR=0.7411;ExAC_EAS=0.7575;ExAC_FIN=0.5066;ExAC_NFE=0.4555;ExAC_OTH=0.5291;ExAC_SAS=0.4469;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3128,316,0 1 53542793 rs899972 G T 818.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.56;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.412;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=intronic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447867.1,ENST00000312553.9,ENST00000395871.6,ENST00000618387.1,ENST00000371500.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs899972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.2695;1000g2015aug_all=0.11222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,26:52:99:847,0,825 1 53543112 rs946590 C G 1459.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.33;DP=75;ExcessHet=3.0103;FS=2.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=1.741;SOR=1.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=intronic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.7219;1000g2015aug_all=0.833666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,42:75:99:1488,0,1115 1 53544289 rs11206087 C T 1860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.532;DP=140;ExcessHet=3.0103;FS=5.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.023;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PODN:NM_153703:exon8:c.C1251T:p.N417N,PODN:NM_001199081:exon9:c.C1194T:p.N398N,PODN:NM_001199080:exon10:c.C1194T:p.N398N;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.2752;1000g2015aug_all=0.127995;esp6500siv2_all=0.0559;ExAC_ALL=0.0915;ExAC_AFR=0.0708;ExAC_AMR=0.3059;ExAC_EAS=0.2374;ExAC_FIN=0.0465;ExAC_NFE=0.0433;ExAC_OTH=0.0706;ExAC_SAS=0.0911;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,65:139:99:1889,0,2263 1 53544439 rs1288388 G A 2262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.964;DP=150;ExcessHet=3.0103;FS=0.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.097;SOR=0.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PODN:NM_153703:exon8:c.G1401A:p.P467P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_001199080:exon10:c.G1344A:p.P448P;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2937;1000g2015aug_sas=0.498;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.4813;1000g2015aug_all=0.410543;esp6500siv2_all=0.5710;ExAC_ALL=0.5900;ExAC_AFR=0.2354;ExAC_AMR=0.4159;ExAC_EAS=0.3015;ExAC_FIN=0.7668;ExAC_NFE=0.7153;ExAC_OTH=0.6430;ExAC_SAS=0.5058;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,87:150:99:2291,0,1712 1 53544513 rs12567021 C T 1235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.692;DP=98;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.185;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PODN:NM_153703:exon8:c.C1475T:p.T492M,PODN:NM_001199081:exon9:c.C1418T:p.T473M,PODN:NM_001199080:exon10:c.C1418T:p.T473M;Gencode=Name\x3eENST00000371500.7,ENST00000618387.1,ENST00000395871.6,ENST00000312553.9,ENST00000447867.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12567021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1677;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.0179;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0086;1000g2015aug_all=0.0489217;esp6500siv2_all=0.0168;ExAC_ALL=0.0324;ExAC_AFR=0.0050;ExAC_AMR=0.0081;ExAC_EAS=0.1651;ExAC_FIN=0.0318;ExAC_NFE=0.0224;ExAC_OTH=0.0392;ExAC_SAS=0.0366;SIFT_score=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.681;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.097;Polyphen2_HVAR_pred=B;LRT_score=0.049;LRT_pred=N;MutationTaster_score=0.933;MutationTaster_pred=P;MutationAssessor_score=1.84;MutationAssessor_pred=L;FATHMM_score=1.78;FATHMM_pred=T;phyloP100way_vertebrate=1.779;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=7.709;gerp++gt2=2.89;CADD=2.484;CADD_Phred=19.36;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,45:97:99:1264,0,1343 1 53544597 rs1288389 T C 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.608;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.543;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=exonic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PODN:NM_153703:exon8:c.T1559C:p.V520A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_001199080:exon10:c.T1502C:p.V501A;Gencode=Name\x3eENST00000371500.7,ENST00000395871.6,ENST00000618387.1,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.5793;1000g2015aug_all=0.560903;esp6500siv2_all=0.7460;ExAC_ALL=0.7717;ExAC_AFR=0.4877;ExAC_AMR=0.5423;ExAC_EAS=0.3871;ExAC_FIN=0.897;ExAC_NFE=0.8939;ExAC_OTH=0.7990;ExAC_SAS=0.6980;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.7;MutationAssessor_pred=N;FATHMM_score=1.9;FATHMM_pred=T;phyloP100way_vertebrate=1.943;phyloP20way_mammalian=-0.513;SiPhy_29way_logOdds=11.803;gerp++gt2=3.91;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,17:44:99:476,0,791 1 53546173 rs1288395 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=intronic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395871.6,ENST00000618387.1,ENST00000371500.7,ENST00000447867.1,ENST00000312553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e684\x3bName\x3e"122047:MIRc(SINE)";avsnp150=rs1288395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53546606 rs112843388 G A 648.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.834;DP=44;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.987;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePODN;Func=intronic;Gene=NM_001199080,NM_001199081,NM_153703;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312553.9,ENST00000447867.1,ENST00000618387.1,ENST00000395871.6,ENST00000371500.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112843388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,21:44:99:677,0,570 1 53553702 rs1288400 A G 1742.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=exonic;Gene=NM_001287595,NM_006671;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC1A7:NM_001287595:exon11:c.T1839C:p.S613S,SLC1A7:NM_006671:exon11:c.T1662C:p.S554S;Gencode=Name\x3eENST00000620288.4,ENST00000620347.4,ENST00000611397.4,ENST00000371494.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.9942;1000g2015aug_all=0.942891;esp6500siv2_all=0.9428;ExAC_ALL=0.9828;ExAC_AFR=0.8225;ExAC_AMR=0.9916;ExAC_EAS=0.9998;ExAC_FIN=0.9995;ExAC_NFE=0.9994;ExAC_OTH=0.9905;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1771,159,0 1 53553754 rs1288401 T C 1049.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.162;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=1.484;SOR=0.82;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=exonic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R;Gencode=Name\x3eENST00000620288.4,ENST00000620347.4,ENST00000611397.4,ENST00000371494.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.4798;1000g2015aug_all=0.410144;esp6500siv2_all=0.5706;ExAC_ALL=0.5929;ExAC_AFR=0.2336;ExAC_AMR=0.4154;ExAC_EAS=0.3021;ExAC_FIN=0.7686;ExAC_NFE=0.7166;ExAC_OTH=0.6477;ExAC_SAS=0.5203;SIFT_score=0.346;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=0.79;FATHMM_pred=T;phyloP100way_vertebrate=3.687;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=16.092;gerp++gt2=5.76;CADD=1.543;CADD_Phred=13.54;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,39:70:99:1078,0,878 1 53554680 rs3816744 T C 386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.174;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.525;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000611397.4,ENST00000371494.8,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3816744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.2709;1000g2015aug_all=0.123203;esp6500siv2_all=0.0380;ExAC_ALL=0.0902;ExAC_AFR=0.0162;ExAC_AMR=0.3005;ExAC_EAS=0.2395;ExAC_FIN=0.0482;ExAC_NFE=0.0428;ExAC_OTH=0.0710;ExAC_SAS=0.1210;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:415,0,425 1 53555465 rs202187580 C T 1427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.742;DP=114;ExcessHet=3.0103;FS=3.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.99;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000371494.8,ENST00000611397.4,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs202187580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0011;ExAC_ALL=0.0009;ExAC_AFR=0.0006;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,55:114:99:1456,0,1441 1 53555783 rs1288403 A C 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.072;DP=15;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=-0.184;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000611397.4,ENST00000371494.8,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.5663;1000g2015aug_all=0.546725;esp6500siv2_all=.;ExAC_ALL=0.7843;ExAC_AFR=0.4629;ExAC_AMR=0.6638;ExAC_EAS=0.4355;ExAC_FIN=0.8824;ExAC_NFE=0.8999;ExAC_OTH=0.7917;ExAC_SAS=0.7804;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,10:15:99:300,0,130 1 53558270 rs1288406 A G 4318.77 PASS AC=2;AF=1;AN=2;DP=134;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.406;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=exonic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC1A7:NM_001287597:exon6:c.T771C:p.R257R,SLC1A7:NM_001287595:exon7:c.T987C:p.R329R,SLC1A7:NM_006671:exon7:c.T987C:p.R329R;Gencode=Name\x3eENST00000620288.4,ENST00000620347.4,ENST00000371494.8,ENST00000611397.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.835;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.9207;1000g2015aug_all=0.846046;esp6500siv2_all=0.8135;ExAC_ALL=0.8389;ExAC_AFR=0.7538;ExAC_AMR=0.9278;ExAC_EAS=0.9595;ExAC_FIN=0.8674;ExAC_NFE=0.8220;ExAC_OTH=0.8422;ExAC_SAS=0.8235;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,133:133:99:4347,399,0 1 53558366 rs12129653 T C 2429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.526;DP=190;ExcessHet=3.0103;FS=5.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.73;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=exonic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC1A7:NM_001287597:exon6:c.A675G:p.S225S,SLC1A7:NM_001287595:exon7:c.A891G:p.S297S,SLC1A7:NM_006671:exon7:c.A891G:p.S297S;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.2839;1000g2015aug_all=0.145567;esp6500siv2_all=0.0606;ExAC_ALL=0.0980;ExAC_AFR=0.0824;ExAC_AMR=0.3090;ExAC_EAS=0.2404;ExAC_FIN=0.0481;ExAC_NFE=0.0448;ExAC_OTH=0.0798;ExAC_SAS=0.1214;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,97:190:99:2458,0,2384 1 53558521 rs12140504 C T 978.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.539;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.311;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000611397.4,ENST00000371494.8,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.003;1000g2015aug_amr=0.2709;1000g2015aug_all=0.123802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,32:60:99:1007,0,841 1 53558680 rs1288407 C A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.9986;1000g2015aug_all=0.957668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 53559247 rs12045217 C T 1957.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.006;DP=129;ExcessHet=3.0103;FS=0.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.311;SOR=0.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611397.4,ENST00000371494.8,ENST00000620347.4,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12045217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.2709;1000g2015aug_all=0.123602;esp6500siv2_all=0.037;ExAC_ALL=0.1190;ExAC_AFR=0.0198;ExAC_AMR=0.3927;ExAC_EAS=0.2816;ExAC_FIN=0.0690;ExAC_NFE=0.0629;ExAC_OTH=0.0891;ExAC_SAS=0.1474;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,76:129:99:1986,0,1372 1 53559310 rs11206091 T C 2219.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=3.841;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000611397.4,ENST00000371494.8,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.836;1000g2015aug_afr=0.6755;1000g2015aug_amr=0.9078;1000g2015aug_all=0.830671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2248,180,0 1 53569399 rs1288420 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000371494.8,ENST00000611397.4,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e373\x3bName\x3e"122085:MIRc(SINE)";avsnp150=rs1288420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9673;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.838;1000g2015aug_afr=0.82;1000g2015aug_amr=0.9265;1000g2015aug_all=0.871406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 53571288 rs1288422 C G 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.9986;1000g2015aug_all=0.964457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 53574050 rs7534682 A G 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.272;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=UTR3;Gene=NM_001287596;GeneDetail=NM_001287596:c.*211T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4,ENST00000371491.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.268;1000g2015aug_all=0.122604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:139,0,143 1 53574076 rs1679938 G A 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.078;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=UTR3;Gene=NM_001287596;GeneDetail=NM_001287596:c.*185C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4,ENST00000371491.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e555\x3bName\x3e"122100:MLT1J(LTR)";avsnp150=rs1679938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.4899;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,243 1 53574123 rs1769289 C T 752.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=UTR3;Gene=NM_001287596;GeneDetail=NM_001287596:c.*138G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000371491.4,ENST00000620347.4,ENST00000371494.8,ENST00000611397.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e555\x3bName\x3e"122100:MLT1J(LTR)";avsnp150=rs1769289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.994;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.987;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:781,57,0 1 53579812 rs1288376 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611397.4,ENST00000371494.8,ENST00000620347.4,ENST00000371491.4,ENST00000620288.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.9928;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 53579982 . G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371491.4,ENST00000620288.4,ENST00000611397.4,ENST00000371494.8,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e598\x3bName\x3e"122108:MIRb(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53594191 rs1679962 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000371491.4,ENST00000620347.4,ENST00000371494.8,ENST00000611397.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1679962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.7723;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 53598161 rs1288357 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4,ENST00000371491.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1401\x3bName\x3e"122142:L2a(LINE)";avsnp150=rs1288357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.9654;1000g2015aug_all=0.927117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53600078 rs3737989 A G 796.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.595;DP=65;ExcessHet=3.0103;FS=2.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-2.363;SOR=0.438;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=exonic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC1A7:NM_001287595:exon2:c.T159C:p.P53P,SLC1A7:NM_001287596:exon2:c.T159C:p.P53P,SLC1A7:NM_001287597:exon2:c.T159C:p.P53P,SLC1A7:NM_006671:exon2:c.T159C:p.P53P;Gencode=Name\x3eENST00000620288.4,ENST00000371491.4,ENST00000620347.4,ENST00000371494.8,ENST00000611397.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.159;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.3718;1000g2015aug_all=0.188099;esp6500siv2_all=0.1583;ExAC_ALL=0.1920;ExAC_AFR=0.1576;ExAC_AMR=0.3666;ExAC_EAS=0.3137;ExAC_FIN=0.1731;ExAC_NFE=0.1790;ExAC_OTH=0.1806;ExAC_SAS=0.0758;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,33:65:99:825,0,835 1 53600350 rs1288354 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000611397.4,ENST00000371494.8,ENST00000620288.4,ENST00000371491.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e864\x3bName\x3e"122149:MIRb(SINE)";avsnp150=rs1288354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.9611;1000g2015aug_all=0.923722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 53607004 rs12738223 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371491.4,ENST00000620288.4,ENST00000611397.4,ENST00000371494.8,ENST00000620347.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2069\x3bName\x3e"122166:MER31B(LTR)";avsnp150=rs12738223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.6859;1000g2015aug_all=0.5623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 53607666 rs2404211 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620288.4,ENST00000371491.4,ENST00000620347.4,ENST00000611397.4,ENST00000371494.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2404211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.5115;1000g2015aug_all=0.390974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 53607724 rs1288365 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC1A7;Func=intronic;Gene=NM_001287595,NM_001287596,NM_001287597,NM_006671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620347.4,ENST00000371494.8,ENST00000611397.4,ENST00000620288.4,ENST00000371491.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9971;1000g2015aug_all=0.983626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 53611537 rs7552743 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006671,NM_001330589;GeneDetail=dist\x3e3233\x3bdist\x3e50564;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e355\x3bName\x3e"122179:Helitron3Na_Mam(RC)";avsnp150=rs7552743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.2406;1000g2015aug_all=0.391773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 53611540 rs7531069 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006671,NM_001330589;GeneDetail=dist\x3e3236\x3bdist\x3e50561;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e355\x3bName\x3e"122179:Helitron3Na_Mam(RC)";avsnp150=rs7531069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.2406;1000g2015aug_all=0.391773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 53666108 rs12754957 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPT2;Func=intronic;Gene=NM_000098,NM_001330589;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371486.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12754957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1772;1000g2015aug_all=0.228435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53675532 rs12737375 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPT2;Func=intronic;Gene=NM_000098,NM_001330589;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371486.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.138;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1772;1000g2015aug_all=0.228235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 53676448 rs1799821 G A 3407.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=0.786;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCPT2;Func=exonic;Gene=NM_000098,NM_001330589;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I;Gencode=Name\x3eENST00000452466.1,ENST00000371486.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1799821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3818;1000g2015aug_all=0.413139;esp6500siv2_all=0.4564;ExAC_ALL=0.4841;ExAC_AFR=0.2836;ExAC_AMR=0.4291;ExAC_EAS=0.7326;ExAC_FIN=0.5312;ExAC_NFE=0.5438;ExAC_OTH=0.4493;ExAC_SAS=0.2609;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-0.74;MutationAssessor_pred=N;FATHMM_score=-2.47;FATHMM_pred=D;phyloP100way_vertebrate=-0.048;phyloP20way_mammalian=0.073;SiPhy_29way_logOdds=10.737;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:3436,265,0 1 53683921 rs12140585 C G 1910.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29;SOR=0.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf123;Func=intronic;Gene=NM_001304759,NM_001304760,NM_017887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294360.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1772;1000g2015aug_all=0.229832;esp6500siv2_all=0.2432;ExAC_ALL=0.2918;ExAC_AFR=0.0949;ExAC_AMR=0.2593;ExAC_EAS=0.4692;ExAC_FIN=0.3981;ExAC_NFE=0.3274;ExAC_OTH=0.2939;ExAC_SAS=0.1586;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1939,162,0 1 53684324 rs3736118 A G 2063.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf123;Func=intronic;Gene=NM_001304759,NM_001304760,NM_017887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294360.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.1772;1000g2015aug_all=0.229633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2092,174,0 1 53684525 rs436887 C G 1229.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf123;Func=intronic;Gene=NM_001304759,NM_001304760,NM_017887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294360.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs436887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.7662;ExAC_ALL=0.7696;ExAC_AFR=0.9423;ExAC_AMR=0.8168;ExAC_EAS=0.9991;ExAC_FIN=0.6904;ExAC_NFE=0.6955;ExAC_OTH=0.7097;ExAC_SAS=0.8417;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1258,119,0 1 53684924 rs67974630 A G 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf123;Func=intronic;Gene=NM_001304759,NM_001304760,NM_017887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294360.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1848\x3bName\x3e"122352:L1MA5A(LINE)";avsnp150=rs67974630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.1772;1000g2015aug_all=0.229034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 53686383 rs1679913 C G 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001304759,NM_001304760,NM_017887;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000569869.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1679913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.7839;1000g2015aug_all=0.797524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 53712727 rs5174 C T 1288.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=exonic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM_033300:exon17:c.G2345A:p.R782Q,LRP8:NM_001018054:exon18:c.G2678A:p.R893Q,LRP8:NM_004631:exon19:c.G2855A:p.R952Q;Gencode=Name\x3eENST00000347547.6,ENST00000371454.6,ENST00000354412.7,ENST00000306052.10,ENST00000613948.4,ENST00000465675.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5174;cosmic70=.;CLNALLELEID=22035;CLNDN=Myocardial_infarction_1;CLNDISDB=MedGen:C1838021,OMIM:608446;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.1772;1000g2015aug_all=0.144369;esp6500siv2_all=0.2896;ExAC_ALL=0.2953;ExAC_AFR=0.0705;ExAC_AMR=0.1833;ExAC_EAS=0.0299;ExAC_FIN=0.4267;ExAC_NFE=0.4032;ExAC_OTH=0.28;ExAC_SAS=0.1659;SIFT_score=0.049;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-2.9;FATHMM_pred=D;phyloP100way_vertebrate=7.185;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=17.432;gerp++gt2=5.43;CADD=7.290;CADD_Phred=34;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1317,120,0 1 53716416 rs3737983 G A 1593.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=exonic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRP8:NM_017522:exon15:c.C2010T:p.D670D,LRP8:NM_033300:exon15:c.C2112T:p.D704D,LRP8:NM_001018054:exon17:c.C2622T:p.D874D,LRP8:NM_004631:exon17:c.C2622T:p.D874D;Gencode=Name\x3eENST00000306052.10,ENST00000613948.4,ENST00000354412.7,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.2867;1000g2015aug_all=0.370807;esp6500siv2_all=0.3624;ExAC_ALL=0.4015;ExAC_AFR=0.2668;ExAC_AMR=0.3712;ExAC_EAS=0.7263;ExAC_FIN=0.4605;ExAC_NFE=0.4229;ExAC_OTH=0.3789;ExAC_SAS=0.2287;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1622,146,0 1 53722752 rs2297663 A C 362.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465675.5,ENST00000613948.4,ENST00000306052.10,ENST00000354412.7,ENST00000371454.6,ENST00000347547.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2363;1000g2015aug_all=0.270567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:391,33,0 1 53723190 rs869987 G T 4217.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371454.6,ENST00000347547.6,ENST00000465675.5,ENST00000354412.7,ENST00000306052.10,ENST00000613948.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs869987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.226;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.2867;1000g2015aug_all=0.385583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:4246,369,0 1 53723349 rs869988 T C 762.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354412.7,ENST00000306052.10,ENST00000613948.4,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e534\x3bName\x3e"122445:Tigger13a(DNA)";avsnp150=rs869988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.226;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.2867;1000g2015aug_all=0.376997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:791,57,0 1 53732315 rs2297660 G T 1823.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=2.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=exonic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRP8:NM_033300:exon7:c.C747A:p.G249G,LRP8:NM_017522:exon8:c.C870A:p.G290G,LRP8:NM_001018054:exon9:c.C1257A:p.G419G,LRP8:NM_004631:exon9:c.C1257A:p.G419G;Gencode=Name\x3eENST00000465675.5,ENST00000613948.4,ENST00000306052.10,ENST00000354412.7,ENST00000371454.6,ENST00000347547.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.182;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.2824;1000g2015aug_all=0.335264;esp6500siv2_all=0.3425;ExAC_ALL=0.3798;ExAC_AFR=0.2258;ExAC_AMR=0.3675;ExAC_EAS=0.6444;ExAC_FIN=0.4368;ExAC_NFE=0.4124;ExAC_OTH=0.3535;ExAC_SAS=0.1936;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1852,153,0 1 53736613 rs7542607 A G 772.78 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.158;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.73;ReadPosRankSum=0;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306052.10,ENST00000613948.4,ENST00000354412.7,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.182;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.2824;1000g2015aug_all=0.335264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,21:22:24:801,24,0 1 53738100 rs10788952 C T 439.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.1;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371454.6,ENST00000347547.6,ENST00000465675.5,ENST00000613948.4,ENST00000306052.10,ENST00000354412.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.2867;1000g2015aug_all=0.364816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:468,36,0 1 53738183 rs7546246 A G 1493.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=1.455;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354412.7,ENST00000613948.4,ENST00000306052.10,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7546246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.289;1000g2015aug_amr=0.2867;1000g2015aug_all=0.39377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1522,129,0 1 53742506 rs56300220 A G 301.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=exonic;Gene=NM_001018054,NM_004631;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRP8:NM_001018054:exon5:c.T741C:p.R247R,LRP8:NM_004631:exon5:c.T741C:p.R247R;Gencode=Name\x3eENST00000371454.6,ENST00000347547.6,ENST00000465675.5,ENST00000354412.7,ENST00000613948.4,ENST00000306052.10;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"122480:(GGCGCG)n(Simple_repeat)";avsnp150=rs56300220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.2709;1000g2015aug_all=0.370008;esp6500siv2_all=.;ExAC_ALL=0.2092;ExAC_AFR=0;ExAC_AMR=0.3333;ExAC_EAS=0.45;ExAC_FIN=.;ExAC_NFE=0.2826;ExAC_OTH=0;ExAC_SAS=0.2;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:330,27,0 1 53745703 rs11206134 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354412.7,ENST00000613948.4,ENST00000306052.10,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.219;1000g2015aug_all=0.25619;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 53746134 rs1288518 G A 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.54;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347547.6,ENST00000371454.6,ENST00000613948.4,ENST00000306052.10,ENST00000354412.7,ENST00000465675.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1288518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.268;1000g2015aug_all=0.371406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 53746595 rs2297657 A T 601.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354412.7,ENST00000306052.10,ENST00000613948.4,ENST00000465675.5,ENST00000347547.6,ENST00000371454.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.219;1000g2015aug_all=0.262979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:630,51,0 1 53754891 rs17108202 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371454.6,ENST00000347547.6,ENST00000421637.1,ENST00000465675.5,ENST00000306052.10,ENST00000613948.4,ENST00000354412.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17108202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.18;1000g2015aug_amr=0.2939;1000g2015aug_all=0.352835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 53755151 rs12035577 T C 1611.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRP8;Func=intronic;Gene=NM_001018054,NM_004631,NM_017522,NM_033300;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371454.6,ENST00000421637.1,ENST00000347547.6,ENST00000465675.5,ENST00000354412.7,ENST00000306052.10,ENST00000613948.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12035577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.18;1000g2015aug_amr=0.2939;1000g2015aug_all=0.353035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1640,147,0 1 53829511 rs4926981 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_131923,NR_002314;GeneDetail=dist\x3e27330\x3bdist\x3e74531;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.7536;1000g2015aug_all=0.620807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 53964385 rs10888793 C T 62.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_033067,NM_147193;GeneDetail=dist\x3e31225\x3bdist\x3e7521;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.7608;1000g2015aug_all=0.476637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 53964404 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_033067,NM_147193;GeneDetail=dist\x3e31244\x3bdist\x3e7502;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 53974987 rs10749691 G T 1010.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10749691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.6744;1000g2015aug_all=0.59385;esp6500siv2_all=0.6733;ExAC_ALL=0.7379;ExAC_AFR=0.4189;ExAC_AMR=0.6852;ExAC_EAS=0.5378;ExAC_FIN=0.8045;ExAC_NFE=0.8056;ExAC_OTH=0.7914;ExAC_SAS=0.7822;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1039,99,0 1 53986683 rs2316191 C T 479.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e530\x3bName\x3e"123028:LTR16B2(LTR)";avsnp150=rs2316191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.9049;1000g2015aug_all=0.786142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:508,39,0 1 53990321 rs541224 C T 510.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21\x3bName\x3e"123039:(GGAC)n(Simple_repeat)";avsnp150=rs541224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.388;1000g2015aug_amr=0.8948;1000g2015aug_all=0.78115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:539,42,0 1 53990715 rs492600 T C 417.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e376\x3bName\x3e"123040:MIR3(SINE)";avsnp150=rs492600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.9452;1000g2015aug_all=0.933906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:446,33,0 1 54041190 rs72675195 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"123131:L2b(LINE)";avsnp150=rs72675195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.025;1000g2015aug_amr=0.0865;1000g2015aug_all=0.11242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 54043532 rs2950251 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2950251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.9885;1000g2015aug_all=0.978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 54060016 rs35227000 G C 1127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.468;DP=78;ExcessHet=3.0103;FS=20.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=1.12;SOR=2.338;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=exonic;Gene=NM_147193;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GLIS1:NM_147193:exon3:c.C560G:p.A187G;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35227000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.1104;1000g2015aug_amr=0.1643;1000g2015aug_all=0.213658;esp6500siv2_all=0.2589;ExAC_ALL=0.2893;ExAC_AFR=0.1350;ExAC_AMR=0.1642;ExAC_EAS=0.1681;ExAC_FIN=0.2673;ExAC_NFE=0.3324;ExAC_OTH=0.3161;ExAC_SAS=0.3596;SIFT_score=0.133;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.336;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.2;MutationAssessor_pred=M;FATHMM_score=2.83;FATHMM_pred=T;phyloP100way_vertebrate=0.543;phyloP20way_mammalian=0.141;SiPhy_29way_logOdds=5.974;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,39:78:99:1156,0,1118 1 54060248 rs4307514 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.243;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=1.099;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=exonic;Gene=NM_147193;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GLIS1:NM_147193:exon3:c.A328G:p.T110A;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4307514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.1599;1000g2015aug_all=0.214856;esp6500siv2_all=0.2413;ExAC_ALL=0.2853;ExAC_AFR=0.1239;ExAC_AMR=0.1595;ExAC_EAS=0.1642;ExAC_FIN=0.2620;ExAC_NFE=0.3240;ExAC_OTH=0.3082;ExAC_SAS=0.3929;SIFT_score=0.182;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.059;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.01;FATHMM_pred=T;phyloP100way_vertebrate=1.307;phyloP20way_mammalian=-0.269;SiPhy_29way_logOdds=5.501;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,8:29:99:180,0,578 1 54123267 rs1405479 G A 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1131\x3bName\x3e"123311:MLT1H1(LTR)";avsnp150=rs1405479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.863;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.9107;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,136 1 54123270 rs1405480 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1131\x3bName\x3e"123311:MLT1H1(LTR)";avsnp150=rs1405480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.863;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.9107;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,136 1 54123279 rs1405481 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.282;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1131\x3bName\x3e"123311:MLT1H1(LTR)";avsnp150=rs1405481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9425;1000g2015aug_sas=0.863;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.9107;1000g2015aug_all=0.83766;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,175 1 54155959 rs3013770 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3013770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.7233;1000g2015aug_all=0.618011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 54166530 rs1173592 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312233.4,ENST00000628545.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3966\x3bName\x3e"123405:L1MB7(LINE)";avsnp150=rs1173592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.9722;1000g2015aug_afr=0.8472;1000g2015aug_amr=0.9625;1000g2015aug_all=0.914936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 54175629 rs12043690 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLIS1;Func=intronic;Gene=NM_147193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628545.1,ENST00000312233.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12043690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1063;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.2305;1000g2015aug_all=0.263179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 54331715 rs1883452 C G 346.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000072644.5,ENST00000371399.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1745\x3bName\x3e"123812:AluSg(SINE)";avsnp150=rs1883452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.2824;1000g2015aug_all=0.483626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:375,27,0 1 54331763 rs1883453 A G 730.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000072644.5,ENST00000371399.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1745\x3bName\x3e"123812:AluSg(SINE)";avsnp150=rs1883453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.3199;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:759,57,0 1 54343718 rs10788965 G T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000072644.5,ENST00000371399.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1302\x3bName\x3e"123847:AluJr(SINE)";avsnp150=rs10788965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.281;1000g2015aug_all=0.485024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 54344282 rs2272928 C A 1938.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000072644.5,ENST00000371399.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.761;1000g2015aug_amr=0.5014;1000g2015aug_all=0.692891;esp6500siv2_all=0.6183;ExAC_ALL=0.6034;ExAC_AFR=0.7510;ExAC_AMR=0.5341;ExAC_EAS=0.8626;ExAC_FIN=0.5264;ExAC_NFE=0.5493;ExAC_OTH=0.5661;ExAC_SAS=0.6750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1967,180,0 1 54344619 rs2316993 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371399.5,ENST00000072644.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e310\x3bName\x3e"123849:MIRb(SINE)";avsnp150=rs2316993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.2608;1000g2015aug_all=0.430112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 54344690 rs2316992 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYIPF1;Func=intronic;Gene=NM_018982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000072644.5,ENST00000371399.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2316992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.2752;1000g2015aug_all=0.472644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 54360467 rs11588118 C G 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIO1;Func=intronic;Gene=NM_000792,NM_001039715,NM_001039716,NM_001324316,NM_213593;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361921.7,ENST00000610607.4,ENST00000388876.3,ENST00000525202.5,ENST00000322679.10,ENST00000617230.2,ENST00000613679.4,ENST00000532493.5,ENST00000524406.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.41;1000g2015aug_eur=0.334;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.2536;1000g2015aug_all=0.409545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 54364094 rs12749848 A C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIO1;Func=intronic;Gene=NM_000792,NM_001039715,NM_001039716,NM_001324316,NM_213593;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361921.7,ENST00000524406.5,ENST00000532493.5,ENST00000613679.4,ENST00000617230.2,ENST00000525202.5,ENST00000322679.10,ENST00000388876.3,ENST00000610607.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e195\x3bName\x3e"123896:L2b(LINE)";avsnp150=rs12749848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.4928;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 54370306 rs2294512 G A 1141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.636;DP=80;ExcessHet=3.0103;FS=3.058;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.965;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIO1;Func=intronic;Gene=NM_000792,NM_001039715,NM_001039716,NM_001324316,NM_213593;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361921.7,ENST00000524406.5,ENST00000532493.5,ENST00000613679.4,ENST00000617230.2,ENST00000525202.5,ENST00000322679.10,ENST00000388876.3,ENST00000610607.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.2651;1000g2015aug_all=0.416534;esp6500siv2_all=0.3305;ExAC_ALL=0.3378;ExAC_AFR=0.4919;ExAC_AMR=0.3046;ExAC_EAS=0.6314;ExAC_FIN=0.3047;ExAC_NFE=0.2835;ExAC_OTH=0.2809;ExAC_SAS=0.3520;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,46:79:99:1170,0,891 1 54375570 rs2235544 C A 2422.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIO1;Func=intronic;Gene=NM_000792,NM_001039715,NM_001039716,NM_001324316,NM_213593;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617230.2,ENST00000525202.5,ENST00000322679.10,ENST00000388876.3,ENST00000610607.4,ENST00000524406.5,ENST00000532493.5,ENST00000613679.4,ENST00000361921.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMultiple_myeloma_(hyperdiploidy),Thyroid_hormone_levels;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.6412;1000g2015aug_all=0.460264;esp6500siv2_all=0.4220;ExAC_ALL=0.5206;ExAC_AFR=0.2372;ExAC_AMR=0.7380;ExAC_EAS=0.4859;ExAC_FIN=0.5446;ExAC_NFE=0.5003;ExAC_OTH=0.4845;ExAC_SAS=0.6394;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2451,228,0 1 54375701 rs11206244 C T 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.094;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.195;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIO1;Func=UTR3;Gene=NM_000792,NM_001039715,NM_001039716,NM_001324316,NM_213593;GeneDetail=NM_000792:c.*29C>T\x3bNM_001039715:c.*29C>T\x3bNM_001039716:c.*93C>T\x3bNM_001324316:c.*93C>T\x3bNM_213593:c.*29C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613679.4,ENST00000610607.4,ENST00000617230.2,ENST00000322679.10,ENST00000361921.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.5173;1000g2015aug_all=0.3125;esp6500siv2_all=0.2992;ExAC_ALL=0.3540;ExAC_AFR=0.2017;ExAC_AMR=0.5881;ExAC_EAS=0.1458;ExAC_FIN=0.3352;ExAC_NFE=0.3387;ExAC_OTH=0.3234;ExAC_SAS=0.4662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,22:50:99:518,0,780 1 54468321 rs664848 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052940,NM_001276392;GeneDetail=dist\x3e34480\x3bdist\x3e4650;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs664848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4653;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.4841;1000g2015aug_all=0.602436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 54606804 rs3766465 C T 860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.13;DP=67;ExcessHet=3.0103;FS=1.109;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-2.194;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=exonic;Gene=NM_201546;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDCP2:NM_201546:exon3:c.G730A:p.G244R;Gencode=Name\x3eENST00000623663.1,ENST00000371330.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.7939;1000g2015aug_all=0.824081;esp6500siv2_all=0.8248;ExAC_ALL=0.8286;ExAC_AFR=0.7761;ExAC_AMR=0.8163;ExAC_EAS=0.8896;ExAC_FIN=0.7689;ExAC_NFE=0.8379;ExAC_OTH=0.7955;ExAC_SAS=0.8252;SIFT_score=0.164;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.934;Polyphen2_HVAR_pred=D;LRT_score=0.011;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.19;MutationAssessor_pred=L;FATHMM_score=2.32;FATHMM_pred=T;phyloP100way_vertebrate=7.518;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=19.547;gerp++gt2=5.57;CADD=6.141;CADD_Phred=28.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,33:66:99:889,0,909 1 54607051 rs671103 A G 4635.77 PASS AC=2;AF=1;AN=2;DP=141;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=exonic;Gene=NM_201546;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDCP2:NM_201546:exon3:c.T483C:p.Y161Y;Gencode=Name\x3eENST00000623663.1,ENST00000371330.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs671103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=1;1000g2015aug_all=0.996605;esp6500siv2_all=0.9970;ExAC_ALL=0.9992;ExAC_AFR=0.9911;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,141:141:99:4664,423,0 1 54607157 rs671539 G A 918.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.437;DP=67;ExcessHet=3.0103;FS=3.493;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.283;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=intronic;Gene=NM_201546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371330.1,ENST00000623663.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs671539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.8084;1000g2015aug_all=0.876398;esp6500siv2_all=0.8478;ExAC_ALL=0.8482;ExAC_AFR=0.8282;ExAC_AMR=0.8225;ExAC_EAS=0.9802;ExAC_FIN=0.7698;ExAC_NFE=0.8413;ExAC_OTH=0.8149;ExAC_SAS=0.8761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,36:67:99:947,0,886 1 54607283 rs672067 T C 552.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.56;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=intronic;Gene=NM_201546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371330.1,ENST00000623663.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs672067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=1;1000g2015aug_all=0.996605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:581,42,0 1 54610834 rs621833 T C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=intronic;Gene=NM_201546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311841.7,ENST00000371330.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2435\x3bName\x3e"124528:AluSx4(SINE)";avsnp150=rs621833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.635;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.7781;1000g2015aug_all=0.640775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,78 1 54618435 rs7528345 A T 1548.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDCP2;Func=intronic;Gene=NM_201546;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311841.7,ENST00000371330.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.6542;1000g2015aug_all=0.646166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1577,138,0 1 54636689 rs7552121 A G 1376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.498;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-1.424;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201546,NM_001031672;GeneDetail=dist\x3e18010\x3bdist\x3e1338;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311841.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552121;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.1441;1000g2015aug_all=0.140375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,43:73:99:1405,0,853 1 54637167 rs625643 T C 1210.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001031672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311841.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs625643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7153;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.8242;1000g2015aug_all=0.689696;esp6500siv2_all=.;ExAC_ALL=0.7057;ExAC_AFR=0.6653;ExAC_AMR=0.6848;ExAC_EAS=0.7671;ExAC_FIN=1;ExAC_NFE=0.7466;ExAC_OTH=0.6833;ExAC_SAS=0.6904;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1239,99,0 1 54642971 rs4926621 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5RL;Func=intronic;Gene=NM_001031672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311841.7,ENST00000534324.5,ENST00000287899.12;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4926621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 54681920 rs13571 G C 2883.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL37;Func=exonic;Gene=NM_001330602,NM_016491;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MRPL37:NM_001330602:exon6:c.G1097C:p.C366S,MRPL37:NM_016491:exon6:c.G1097C:p.C366S;Gencode=Name\x3eENST00000360840.9,ENST00000336230.10,ENST00000605337.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.6398;1000g2015aug_all=0.583267;esp6500siv2_all=0.7400;ExAC_ALL=0.6806;ExAC_AFR=0.6441;ExAC_AMR=0.6120;ExAC_EAS=0.4196;ExAC_FIN=0.7038;ExAC_NFE=0.7749;ExAC_OTH=0.6960;ExAC_SAS=0.4965;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.89;MutationAssessor_pred=N;FATHMM_score=2.5;FATHMM_pred=T;phyloP100way_vertebrate=2.140;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=16.303;gerp++gt2=5.38;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2912,264,0 1 54686374 rs612711 T C 1330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.009;DP=92;ExcessHet=3.0103;FS=6.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.772;SOR=0.674;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001330602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000605337.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs612711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.8222;1000g2015aug_amr=0.6916;1000g2015aug_all=0.716454;esp6500siv2_all=.;ExAC_ALL=0.6362;ExAC_AFR=0.7922;ExAC_AMR=0.6453;ExAC_EAS=0.7602;ExAC_FIN=0.6496;ExAC_NFE=0.5505;ExAC_OTH=0.5857;ExAC_SAS=0.6720;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,49:91:99:1359,0,1118 1 54690954 rs3088379 T C 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.296;DP=72;ExcessHet=3.0103;FS=1.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.19;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001330602;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MRPL37:NM_001330602:exon7:c.T1351C:p.F451L;Gencode=Name\x3eENST00000605337.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3088379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.3977;1000g2015aug_all=0.461861;esp6500siv2_all=.;ExAC_ALL=0.5068;ExAC_AFR=0.5979;ExAC_AMR=0.4545;ExAC_EAS=0.3902;ExAC_FIN=0.5;ExAC_NFE=0.4914;ExAC_OTH=0.4286;ExAC_SAS=0.4649;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.123;phyloP20way_mammalian=-2.480;SiPhy_29way_logOdds=2.318;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,38:72:99:985,0,823 1 54694210 rs147481925 C T 880.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.549;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.019;SOR=0.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSBP3;Func=intronic;Gene=NM_001009955,NM_018070,NM_145716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610401.4,ENST00000357475.8,ENST00000371320.7,ENST00000417664.6,ENST00000371319.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147481925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0119;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00459265;esp6500siv2_all=0.0077;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:909,0,1958 1 54694214 rs2297026 G A 880.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.82;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=0.093;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSBP3;Func=intronic;Gene=NM_001009955,NM_018070,NM_145716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371319.7,ENST00000417664.6,ENST00000371320.7,ENST00000610401.4,ENST00000357475.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.2911;1000g2015aug_all=0.259385;esp6500siv2_all=0.3016;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,23:48:99:909,0,1958 1 54706448 . G A 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.293;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSBP3;Func=intronic;Gene=NM_001009955,NM_018070,NM_145716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371319.7,ENST00000417664.6,ENST00000371320.7,ENST00000357475.8,ENST00000610401.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:241,0,367 1 54706733 rs2297027 A G 839.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.778;DP=69;ExcessHet=3.0103;FS=0.959;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.493;SOR=0.928;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSBP3;Func=intronic;Gene=NM_001009955,NM_018070,NM_145716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357475.8,ENST00000610401.4,ENST00000371320.7,ENST00000417664.6,ENST00000371319.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.6643;1000g2015aug_all=0.659545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,29:69:99:868,0,1043 1 54714126 rs640996 C T 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSBP3;Func=intronic;Gene=NM_001009955,NM_018070,NM_145716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371319.7,ENST00000417664.6,ENST00000371320.7,ENST00000357475.8,ENST00000610401.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e192\x3bName\x3e"124791:MIR(SINE)";avsnp150=rs640996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.781;1000g2015aug_all=0.870008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 54875311 rs213495 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145716,NM_015547;GeneDetail=dist\x3e3243\x3bdist\x3e138496;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs213495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9274;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9726;1000g2015aug_all=0.974441;esp6500siv2_all=0.9306;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 54950263 rs10458558 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145716,NM_015547;GeneDetail=dist\x3e78195\x3bdist\x3e63544;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e256\x3bName\x3e"125300:CR1-3_Croc(LINE)";avsnp150=rs10458558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.7507;1000g2015aug_all=0.66873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55002631 rs6588519 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.524;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145716,NM_015547;GeneDetail=dist\x3e130563\x3bdist\x3e11176;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=Score\x3e0.921012\x3bName\x3echr19:11665745;Repeat=.;avsnp150=rs6588519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.2637;1000g2015aug_all=0.273762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:72,0,69 1 55014099 rs299874 C T 488.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs299874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.8156;1000g2015aug_all=0.751198;esp6500siv2_all=0.6798;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:517,48,0 1 55014160 rs299872 C T 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs299872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.7983;1000g2015aug_all=0.628994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 55066759 rs1655534 T C 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343744.6,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e60\x3bName\x3e"125643:(GT)n(Simple_repeat)";avsnp150=rs1655534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.5388;1000g2015aug_afr=0.348;1000g2015aug_amr=0.3689;1000g2015aug_all=0.34365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:207,0,485 1 55069790 rs892446 C A 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.632;DP=15;ExcessHet=3.0103;FS=4.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.286;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e345\x3bName\x3e"125652:MIRc(SINE)";avsnp150=rs892446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.3516;1000g2015aug_all=0.269569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:193,0,290 1 55069986 rs746503 T C 499.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.118;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.438;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343744.6,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs746503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.5562;1000g2015aug_all=0.510783;esp6500siv2_all=0.5950;ExAC_ALL=0.5772;ExAC_AFR=0.5110;ExAC_AMR=0.5099;ExAC_EAS=0.4268;ExAC_FIN=0.6080;ExAC_NFE=0.6318;ExAC_OTH=0.5895;ExAC_SAS=0.5111;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,19:38:99:528,0,544 1 55071024 rs1655532 T G 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343744.6,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 55072726 rs1616691 T C 1203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.302;DP=59;ExcessHet=3.0103;FS=4.025;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.274;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343744.6,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1616691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.4222;1000g2015aug_all=0.445487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,37:59:99:1232,0,664 1 55073396 rs12027962 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.113;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12027962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.274;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.2968;1000g2015aug_all=0.242812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,147 1 55074419 rs1655531 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.55;QD=25.46;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9971;1000g2015aug_all=0.995807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 55074463 rs1655530 T C 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.78;MQRankSum=-1.316;QD=17.25;ReadPosRankSum=0.175;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=intronic;Gene=NM_015547,NM_147161;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000343744.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.455;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.5576;1000g2015aug_all=0.506589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 55074840 rs1617287 T A 1924.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=104;ExcessHet=3.0103;FS=2.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-2.52;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11;Func=UTR3;Gene=NM_147161;GeneDetail=NM_147161:c.*55T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343744.6,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1617287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.353;1000g2015aug_all=0.276757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,64:104:99:1953,0,1154 1 55074922 rs2289016 G A 436.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.342;DP=37;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.583;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM151A,ACOT11;Func=UTR3;Gene=NM_147161,NM_176782;GeneDetail=NM_147161:c.*137G>A\x3bNM_176782:c.*19C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000371304.2,ENST00000343744.6,ENST00000302250.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2289016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.274;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.2983;1000g2015aug_all=0.243211;esp6500siv2_all=0.2574;ExAC_ALL=0.3065;ExAC_AFR=0.0975;ExAC_AMR=0.2893;ExAC_EAS=0.3324;ExAC_FIN=0.3403;ExAC_NFE=0.3361;ExAC_OTH=0.3202;ExAC_SAS=0.3038;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:465,0,630 1 55075452 rs1368883 G A 1379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.931;DP=114;ExcessHet=3.0103;FS=0.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.73;SOR=0.568;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11,FAM151A;Func=exonic;Gene=NM_176782;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM151A:NM_176782:exon8:c.C1247T:p.A416V;Gencode=Name\x3eENST00000302250.6,ENST00000343744.6,ENST00000371304.2,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1368883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.5388;1000g2015aug_afr=0.1959;1000g2015aug_amr=0.3588;1000g2015aug_all=0.302316;esp6500siv2_all=0.4287;ExAC_ALL=0.4116;ExAC_AFR=0.2352;ExAC_AMR=0.2571;ExAC_EAS=0.1752;ExAC_FIN=0.4447;ExAC_NFE=0.5141;ExAC_OTH=0.4053;ExAC_SAS=0.3280;SIFT_score=0.317;SIFT_pred=T;Polyphen2_HDIV_score=0.12;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_pred=B;LRT_score=0.268;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.81;MutationAssessor_pred=L;FATHMM_score=2.78;FATHMM_pred=T;phyloP100way_vertebrate=0.211;phyloP20way_mammalian=-0.215;SiPhy_29way_logOdds=7.210;gerp++gt2=2.26;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,49:114:99:1408,0,1896 1 55077973 rs1655529 T C 176.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.49;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11,FAM151A;Func=intronic;Gene=NM_015547,NM_176782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000371304.2,ENST00000302250.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e684\x3bName\x3e"125663:L3(LINE)";avsnp150=rs1655529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.9637;1000g2015aug_amr=0.9986;1000g2015aug_all=0.989816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:205,15,0 1 55078046 rs1655528 T C 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11,FAM151A;Func=intronic;Gene=NM_015547,NM_176782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371304.2,ENST00000371316.3,ENST00000302250.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e684\x3bName\x3e"125663:L3(LINE)";avsnp150=rs1655528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.7089;1000g2015aug_all=0.677516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 55080629 rs1702015 A G 2758.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11,FAM151A;Func=intronic;Gene=NM_015547,NM_176782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302250.6,ENST00000371304.2,ENST00000371316.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"125673:(GT)n(Simple_repeat)";avsnp150=rs1702015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.7867;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2787,187,0 1 55080635 rs1655525 G A 1294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.434;DP=60;ExcessHet=3.0103;FS=2.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.58;ReadPosRankSum=0.669;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACOT11,FAM151A;Func=intronic;Gene=NM_015547,NM_176782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000371304.2,ENST00000302250.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"125673:(GT)n(Simple_repeat)";avsnp150=rs1655525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,33:60:99:1323,0,1031 1 55085499 rs11206396 T C 327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.547;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.088;SOR=0.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM151A,ACOT11;Func=intronic;Gene=NM_015547,NM_176782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371316.3,ENST00000371304.2,ENST00000302250.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.496;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.5317;1000g2015aug_all=0.586661;esp6500siv2_all=0.5197;ExAC_ALL=0.5185;ExAC_AFR=0.6633;ExAC_AMR=0.6075;ExAC_EAS=0.4942;ExAC_FIN=0.4968;ExAC_NFE=0.4566;ExAC_OTH=0.5234;ExAC_SAS=0.6385;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:356,0,430 1 55118566 rs1655520 C G 3551.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=0.862;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_exonic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.9914;1000g2015aug_all=0.948682;esp6500siv2_all=0.9541;ExAC_ALL=0.9848;ExAC_AFR=0.8421;ExAC_AMR=0.9928;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9988;ExAC_OTH=0.9950;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3580,339,0 1 55119144 rs11206407 A G 2839.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=0.74;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=exonic;Gene=NM_001039464;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH7:NM_001039464:exon3:c.A545G:p.H182R;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.268;1000g2015aug_all=0.310703;esp6500siv2_all=0.2918;ExAC_ALL=0.3258;ExAC_AFR=0.1778;ExAC_AMR=0.2274;ExAC_EAS=0.5375;ExAC_FIN=0.3906;ExAC_NFE=0.3494;ExAC_OTH=0.2846;ExAC_SAS=0.2533;SIFT_score=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.737;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=4.29;FATHMM_pred=T;phyloP100way_vertebrate=-0.813;phyloP20way_mammalian=-0.321;SiPhy_29way_logOdds=1.024;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2868,258,0 1 55119289 rs9332417 G C 2706.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.7;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=exonic;Gene=NM_001039464;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MROH7:NM_001039464:exon3:c.G690C:p.L230L;Gencode=Name\x3eENST00000409996.5,ENST00000414150.6,ENST00000395690.6,ENST00000339553.9,ENST00000421030.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9332417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.4063;1000g2015aug_all=0.420527;esp6500siv2_all=0.5191;ExAC_ALL=0.5070;ExAC_AFR=0.3241;ExAC_AMR=0.3432;ExAC_EAS=0.5385;ExAC_FIN=0.5784;ExAC_NFE=0.5849;ExAC_OTH=0.4833;ExAC_SAS=0.3718;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2735,234,0 1 55119546 rs1655518 A G 7124.77 PASS AC=2;AF=1;AN=2;DP=216;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=exonic;Gene=NM_001039464;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH7:NM_001039464:exon3:c.A947G:p.E316G;Gencode=Name\x3eENST00000409996.5,ENST00000421030.6,ENST00000339553.9,ENST00000395690.6,ENST00000414150.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.9914;1000g2015aug_all=0.953075;esp6500siv2_all=0.9588;ExAC_ALL=0.9873;ExAC_AFR=0.8614;ExAC_AMR=0.9935;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9956;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.483;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=3.68;FATHMM_pred=T;phyloP100way_vertebrate=-0.090;phyloP20way_mammalian=-0.816;SiPhy_29way_logOdds=0.925;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,216:216:99:7153,648,0 1 55129564 rs1529783 T C 65.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.11;ReadPosRankSum=1.814;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421030.6,ENST00000339553.9,ENST00000395690.6,ENST00000414150.6,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1712\x3bName\x3e"125816:L1MC4(LINE)";avsnp150=rs1529783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.1037;1000g2015aug_all=0.163738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:94:94,0,263 1 55130598 rs11206410 T G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000395690.6,ENST00000414150.6,ENST00000421030.6,ENST00000339553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2199\x3bName\x3e"125819:AluSq2(SINE)";avsnp150=rs11206410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3112;1000g2015aug_all=0.360224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 55130931 rs2078273 C T 2642.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=2.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395690.6,ENST00000414150.6,ENST00000421030.6,ENST00000339553.9,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2078273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.3098;1000g2015aug_all=0.348642;esp6500siv2_all=0.3453;ExAC_ALL=0.3851;ExAC_AFR=0.2034;ExAC_AMR=0.2517;ExAC_EAS=0.5450;ExAC_FIN=0.4332;ExAC_NFE=0.4204;ExAC_OTH=0.3784;ExAC_SAS=0.3415;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2671,234,0 1 55130946 rs6703113 G C 2259.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=2.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.3127;1000g2015aug_all=0.386182;esp6500siv2_all=0.3684;ExAC_ALL=0.4066;ExAC_AFR=0.2534;ExAC_AMR=0.2563;ExAC_EAS=0.6233;ExAC_FIN=0.4631;ExAC_NFE=0.4329;ExAC_OTH=0.4077;ExAC_SAS=0.3613;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2288,195,0 1 55130972 rs471724 C T 1340.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.05;SOR=3.145;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000395690.6,ENST00000414150.6,ENST00000421030.6,ENST00000339553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs471724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9226;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.888;1000g2015aug_amr=0.8487;1000g2015aug_all=0.865615;esp6500siv2_all=0.7762;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1369,114,0 1 55134379 rs627095 C T 1576.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.94;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000414150.6,ENST00000395690.6,ENST00000339553.9,ENST00000421030.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs627095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.8501;1000g2015aug_all=0.892572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1605,131,0 1 55136067 rs2251719 T G 651.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.8631;1000g2015aug_all=0.92472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:680,54,0 1 55136356 rs627226 C T 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.875;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=0.632;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000421030.6,ENST00000339553.9,ENST00000395690.6,ENST00000414150.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs627226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.4902;1000g2015aug_amr=0.1715;1000g2015aug_all=0.265974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:85:280,0,85 1 55139618 rs571199 G A 496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.07;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.224;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421030.6,ENST00000339553.9,ENST00000395690.6,ENST00000414150.6,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs571199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2292;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.325;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.1988;1000g2015aug_all=0.244209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:525,0,540 1 55139741 rs570218 A G 1664.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=exonic;Gene=NM_001039464,NM_001291332;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH7:NM_001291332:exon8:c.A407G:p.H136R,MROH7:NM_001039464:exon10:c.A1853G:p.H618R;Gencode=Name\x3eENST00000409996.5,ENST00000395690.6,ENST00000414150.6,ENST00000421030.6,ENST00000339553.9;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs570218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.8559;1000g2015aug_all=0.909744;esp6500siv2_all=0.8267;ExAC_ALL=0.8441;ExAC_AFR=0.9103;ExAC_AMR=0.8978;ExAC_EAS=0.9997;ExAC_FIN=0.8471;ExAC_NFE=0.7850;ExAC_OTH=0.84;ExAC_SAS=0.9236;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.42;MutationAssessor_pred=N;FATHMM_score=4.76;FATHMM_pred=T;phyloP100way_vertebrate=3.108;phyloP20way_mammalian=0.070;SiPhy_29way_logOdds=9.028;gerp++gt2=4.65;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1693,162,0 1 55139912 rs12122650 T G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.002;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.382;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.226;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.3646;1000g2015aug_all=0.305112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:445,0,384 1 55144100 rs498831 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000414150.6,ENST00000395690.6,ENST00000339553.9,ENST00000421030.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2545\x3bName\x3e"125862:L1ME3A(LINE)";avsnp150=rs498831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.882;1000g2015aug_amr=0.8559;1000g2015aug_all=0.899561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55145897 rs17396131 G A 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=-1.085;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414150.6,ENST00000395690.6,ENST00000339553.9,ENST00000421030.6,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e442\x3bName\x3e"125864:MIRc(SINE)";avsnp150=rs17396131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.2262;1000g2015aug_all=0.239417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:44:231,0,44 1 55152223 rs17110938 C T 1625.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17110938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3075;1000g2015aug_sas=0.183;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.149;1000g2015aug_amr=0.2608;1000g2015aug_all=0.204273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1654,126,0 1 55155902 rs12239874 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7,MROH7-TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409996.5,ENST00000339553.9,ENST00000421030.6,ENST00000414150.6,ENST00000395690.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12239874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.181;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.268;1000g2015aug_all=0.230431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55167773 rs646356 T A 1475.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=exonic;Gene=NM_001039464,NM_001291332;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH7:NM_001291332:exon18:c.T1850A:p.V617D,MROH7:NM_001039464:exon20:c.T3296A:p.V1099D;Gencode=Name\x3eENST00000421030.6,ENST00000414150.6,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs646356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.832;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9251;1000g2015aug_all=0.917931;esp6500siv2_all=0.8783;ExAC_ALL=0.8727;ExAC_AFR=0.9710;ExAC_AMR=0.9420;ExAC_EAS=0.9364;ExAC_FIN=0.8334;ExAC_NFE=0.8398;ExAC_OTH=0.8529;ExAC_SAS=0.8821;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.888;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.14;MutationAssessor_pred=N;FATHMM_score=1.53;FATHMM_pred=T;phyloP100way_vertebrate=0.595;phyloP20way_mammalian=-0.250;SiPhy_29way_logOdds=5.071;gerp++gt2=2.63;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1504,135,0 1 55168084 rs644955 C T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.135;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,MROH7;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421030.6,ENST00000414150.6,ENST00000409996.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs644955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.492;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.5403;1000g2015aug_all=0.639177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 55197600 rs183441152 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH7-TTC4,TTC4;Func=ncRNA_intronic;Gene=NR_037639,NR_037640,NR_037641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414150.6,ENST00000371281.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183441152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 55248184 rs1180969 C T 2090.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.048;DP=145;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.201;SOR=0.583;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=intronic;Gene=NM_001114108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371276.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1180969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=0.0011;ExAC_AFR=0.0005;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0017;ExAC_OTH=0;ExAC_SAS=0.0007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,82:145:99:2119,0,1620 1 55248443 rs41297867 C G 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=intronic;Gene=NM_001114108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371276.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e652\x3bName\x3e"126168:L2a(LINE)";avsnp150=rs41297867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0091853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 1 55251689 rs586462 T C 3328.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.563;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=exonic;Gene=NM_001114108,NM_017904;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E;Gencode=Name\x3eENST00000371276.8,ENST00000371274.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs586462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999002;esp6500siv2_all=0.9972;ExAC_ALL=0.9993;ExAC_AFR=0.9926;ExAC_AMR=0.9991;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,101:101:99:3357,303,0 1 55253575 rs665118 T C 1209.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=intronic;Gene=NM_001114108,NM_017904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371276.8,ENST00000371274.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs665118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1238,99,0 1 55266797 rs671108 G C 1290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.454;DP=108;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.406;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=exonic;Gene=NM_001114108,NM_017904;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTC22:NM_001114108:exon1:c.C40G:p.L14V,TTC22:NM_017904:exon1:c.C40G:p.L14V;Gencode=Name\x3eENST00000371274.8,ENST00000371276.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs671108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.2334;1000g2015aug_all=0.153554;esp6500siv2_all=0.1531;ExAC_ALL=0.1988;ExAC_AFR=0.0583;ExAC_AMR=0.2030;ExAC_EAS=0.2903;ExAC_FIN=0.2455;ExAC_NFE=0.2280;ExAC_OTH=0.2190;ExAC_SAS=0.0948;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.28;MutationAssessor_pred=M;FATHMM_score=0.17;FATHMM_pred=T;phyloP100way_vertebrate=1.990;phyloP20way_mammalian=0.923;SiPhy_29way_logOdds=15.674;gerp++gt2=4.13;CADD=3.634;CADD_Phred=23.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,52:108:99:1319,0,1540 1 55266845 rs1147984 C T 1150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.128;DP=82;ExcessHet=3.0103;FS=1.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.515;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC22;Func=UTR5;Gene=NM_001114108,NM_017904;GeneDetail=NM_001114108:c.-9G>A\x3bNM_017904:c.-9G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371274.8,ENST00000371276.8;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1147984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.4611;1000g2015aug_all=0.4998;esp6500siv2_all=0.5790;ExAC_ALL=0.5682;ExAC_AFR=0.5182;ExAC_AMR=0.4268;ExAC_EAS=0.2809;ExAC_FIN=0.6385;ExAC_NFE=0.6061;ExAC_OTH=0.5819;ExAC_SAS=0.6654;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,40:82:99:1179,0,1080 1 55267114 rs669833 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001114108,NM_017904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs669833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.8804;1000g2015aug_all=0.950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55271774 rs757581 A G 337.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.08;DP=20;ExcessHet=3.0103;FS=6.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=0.114;SOR=0.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=UTR5;Gene=NM_001110533,NM_152607;GeneDetail=NM_001110533:c.-16A>G\x3bNM_152607:c.-16A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs757581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.5847;1000g2015aug_amr=0.4741;1000g2015aug_all=0.55012;esp6500siv2_all=0.5831;ExAC_ALL=0.6244;ExAC_AFR=0.5885;ExAC_AMR=0.5398;ExAC_EAS=0.4596;ExAC_FIN=0.6635;ExAC_NFE=0.6123;ExAC_OTH=0.6471;ExAC_SAS=0.6614;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:366,0,248 1 55272481 rs685648 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358193.7,ENST00000371273.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e640\x3bName\x3e"126227:L2a(LINE)";avsnp150=rs685648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 55273422 rs671022 A T 414.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.585;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=0.435;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358193.7,ENST00000371273.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs671022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.2349;1000g2015aug_all=0.168131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:443,0,237 1 55273580 rs9782980 G T 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.057;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.517;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=exonic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LEXM:NM_001110533:exon4:c.G376T:p.G126C,LEXM:NM_152607:exon4:c.G376T:p.G126C;Gencode=Name\x3eENST00000358193.7,ENST00000371273.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9782980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2708;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.4568;1000g2015aug_all=0.498003;esp6500siv2_all=0.5682;ExAC_ALL=0.5604;ExAC_AFR=0.5088;ExAC_AMR=0.4193;ExAC_EAS=0.2698;ExAC_FIN=0.6192;ExAC_NFE=0.5968;ExAC_OTH=0.5759;ExAC_SAS=0.6798;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.78;MutationAssessor_pred=M;FATHMM_score=1.76;FATHMM_pred=T;phyloP100way_vertebrate=3.681;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=9.007;gerp++gt2=4.45;CADD=6.166;CADD_Phred=28.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,22:44:99:492,0,572 1 55279688 rs602458 G A 209.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.229;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.474;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs602458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0349441;esp6500siv2_all=0.0655;ExAC_ALL=0.0655;ExAC_AFR=0.0166;ExAC_AMR=0.0456;ExAC_EAS=0.0001;ExAC_FIN=0.0558;ExAC_NFE=0.0930;ExAC_OTH=0.0653;ExAC_SAS=0.0342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:238,0,254 1 55279744 rs602067 G T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"126242:MIRb(SINE)";avsnp150=rs602067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.2392;1000g2015aug_all=0.207668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:92:146,0,92 1 55281132 rs682974 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs682974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.9827;1000g2015aug_all=0.91274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55282556 rs733168 A G 867.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.509;DP=49;ExcessHet=3.0103;FS=10.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=2.267;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1858\x3bName\x3e"126247:MLT1C(LTR)";avsnp150=rs733168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.5663;1000g2015aug_all=0.578275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,26:48:99:896,0,654 1 55282979 rs4926657 A C 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.242;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358193.7,ENST00000371273.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e390\x3bName\x3e"126248:MIRb(SINE)";avsnp150=rs4926657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.5663;1000g2015aug_all=0.578674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:60:195,0,60 1 55305731 rs2114577 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=intronic;Gene=NM_001110533,NM_152607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358193.7,ENST00000371273.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3096\x3bName\x3e"126313:L1ME1(LINE)";avsnp150=rs2114577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.5333;1000g2015aug_amr=0.7622;1000g2015aug_all=0.711462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55307501 rs41297871 A G 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.782;DP=33;ExcessHet=3.0103;FS=5.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.018;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=exonic;Gene=NM_001110533;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LEXM:NM_001110533:exon10:c.A1212G:p.G404G;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41297871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.281;1000g2015aug_all=0.230431;esp6500siv2_all=0.1949;ExAC_ALL=0.2272;ExAC_AFR=0.1870;ExAC_AMR=0.3337;ExAC_EAS=0.5100;ExAC_FIN=0.2916;ExAC_NFE=0.2566;ExAC_OTH=0.2518;ExAC_SAS=0.1240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:405,0,490 1 55307640 rs59138759 C T 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.323;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.217;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEXM;Func=UTR3;Gene=NM_001110533,NM_152607;GeneDetail=NM_001110533:c.*94C>T\x3bNM_152607:c.*193C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371273.3,ENST00000358193.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59138759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.2795;1000g2015aug_all=0.228235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:168,0,301 1 55317685 rs1138030 G A 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=UTR3;Gene=NM_014762;GeneDetail=NM_014762:c.*221C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e768\x3bName\x3e"126342:MIRb(SINE)";avsnp150=rs1138030;cosmic70=.;CLNALLELEID=281352;CLNDN=Desmosterolosis;CLNDISDB=MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.2738;1000g2015aug_all=0.226038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 55318108 rs667222 C T 849.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.346;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.457;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535035.5,ENST00000371269.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs667222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.3737;1000g2015aug_amr=0.4179;1000g2015aug_all=0.372604;esp6500siv2_all=0.3333;ExAC_ALL=0.3360;ExAC_AFR=0.3802;ExAC_AMR=0.4884;ExAC_EAS=0.6058;ExAC_FIN=0.2585;ExAC_NFE=0.3116;ExAC_OTH=0.3229;ExAC_SAS=0.1924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,28:63:99:878,0,1120 1 55319008 rs631749 T C 831.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.576;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.549;SOR=0.588;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535035.5,ENST00000371269.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs631749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.5938;1000g2015aug_amr=0.4308;1000g2015aug_all=0.433107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,31:54:99:860,0,628 1 55319902 rs718265 A G 1251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.909;DP=89;ExcessHet=3.0103;FS=5.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.795;SOR=0.98;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=exonic;Gene=NM_014762;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DHCR24:NM_014762:exon7:c.T1026C:p.I342I;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs718265;cosmic70=.;CLNALLELEID=281388;CLNDN=Desmosterolosis;CLNDISDB=MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.6256;1000g2015aug_amr=0.585;1000g2015aug_all=0.627596;esp6500siv2_all=0.6662;ExAC_ALL=0.6651;ExAC_AFR=0.6191;ExAC_AMR=0.5178;ExAC_EAS=0.3970;ExAC_FIN=0.7422;ExAC_NFE=0.6892;ExAC_OTH=0.6797;ExAC_SAS=0.8092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,48:89:99:1280,0,990 1 55328483 rs677036 T C 93.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2577\x3bName\x3e"126367:AluY(SINE)";avsnp150=rs677036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:121,12,0 1 55330966 rs611057 T C 621.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs611057;cosmic70=.;CLNALLELEID=282617;CLNDN=Desmosterolosis;CLNDISDB=MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9592;1000g2015aug_amr=1;1000g2015aug_all=0.988618;esp6500siv2_all=0.9879;ExAC_ALL=0.9968;ExAC_AFR=0.9690;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9977;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:650,54,0 1 55332536 rs628508 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs628508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.879;1000g2015aug_amr=0.8415;1000g2015aug_all=0.913538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55336950 rs608458 C G 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=26;ExcessHet=3.0103;FS=4.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.97;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs608458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.8252;1000g2015aug_eur=0.666;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.5144;1000g2015aug_all=0.578674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,9:26:99:298,0,632 1 55337540 rs659161 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535035.5,ENST00000371269.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 55341106 rs2075390 C T 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.234;DP=20;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.417;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.3746;1000g2015aug_all=0.382987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:358,0,287 1 55341351 rs626452 G T 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=1.242;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371269.7,ENST00000535035.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e892\x3bName\x3e"126399:L3(LINE)";avsnp150=rs626452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.5257;1000g2015aug_amr=0.5591;1000g2015aug_all=0.621805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:86:224,0,86 1 55341915 rs638944 T G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.82;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHCR24;Func=intronic;Gene=NM_014762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535035.5,ENST00000371269.7;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs638944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.3948;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:218,0,184 1 55379137 . G A 51.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.222;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.77;MQRankSum=-3.611;QD=3.45;ReadPosRankSum=1.231;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26216\x3bdist\x3e67200;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,3:15:80:80,0,388 1 55379150 . C T 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.444;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.03;MQRankSum=-3.883;QD=4.4;ReadPosRankSum=0.631;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26229\x3bdist\x3e67187;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,3:17:99:103,0,902 1 55379154 . T C 112.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.051;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-4.247;QD=5.64;ReadPosRankSum=-0.612;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26233\x3bdist\x3e67183;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,5:20:99:141,0,899 1 55379166 rs78513561 G T 130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.659;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.01;MQRankSum=-4.483;QD=5.94;ReadPosRankSum=-0.471;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26245\x3bdist\x3e67171;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs78513561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,5:22:99:159,0,1007 1 55379171 . C G 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.734;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.14;MQRankSum=-4.596;QD=5.56;ReadPosRankSum=-0.898;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26250\x3bdist\x3e67166;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,5:23:99:156,0,1041 1 55379224 rs75342693 C T 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.474;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.79;MQRankSum=-4.605;QD=3.6;ReadPosRankSum=0.366;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26303\x3bdist\x3e67113;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs75342693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,4:23:99:111,0,782 1 55379231 rs76095833 A G 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.018;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.88;MQRankSum=-4.714;QD=3.32;ReadPosRankSum=0.853;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26310\x3bdist\x3e67106;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs76095833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,4:24:99:108,0,787 1 55379254 rs79136353 G A 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.911;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.97;MQRankSum=-4.82;QD=3.07;ReadPosRankSum=0.892;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26333\x3bdist\x3e67083;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs79136353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,4:25:99:105,0,870 1 55379256 rs78785718 G T 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.938;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.97;MQRankSum=-4.82;QD=3.07;ReadPosRankSum=0.855;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26335\x3bdist\x3e67081;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs78785718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,4:25:99:105,0,870 1 55379259 rs796736257 A G 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.938;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.97;MQRankSum=-4.82;QD=3.07;ReadPosRankSum=0.668;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26338\x3bdist\x3e67078;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs796736257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,4:25:99:105,0,870 1 55379281 rs796839852 G A 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.985;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.19;MQRankSum=-5.125;QD=2.42;ReadPosRankSum=0.493;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26360\x3bdist\x3e67056;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs796839852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,4:28:96:96,0,940 1 55379286 rs796105932 A G 73.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.815;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.88;MQRankSum=-4.714;QD=3.07;ReadPosRankSum=-0.31;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26365\x3bdist\x3e67051;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs796105932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,4:24:99:102,0,887 1 55379287 rs80355011 G C 73.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.88;MQRankSum=-4.714;QD=3.07;ReadPosRankSum=-0.388;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e26366\x3bdist\x3e67050;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14288\x3bName\x3e"126486:HERV17-int(LTR)";avsnp150=rs80355011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,4:24:99:102,0,887 1 55383884 rs614320 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e30963\x3bdist\x3e62453;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e35857\x3bName\x3e"126487:HERV17-int(LTR)";avsnp150=rs614320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.9539;1000g2015aug_all=0.877596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55445065 rs2059687 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e92144\x3bdist\x3e1272;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2059687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.68;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.732;1000g2015aug_all=0.570487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55445123 rs2059688 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014762,NM_182532;GeneDetail=dist\x3e92202\x3bdist\x3e1214;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2059688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.68;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.732;1000g2015aug_all=0.570288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55445562 rs2500321 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e207\x3bName\x3e"126643:L2c(LINE)";avsnp150=rs2500321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.329;1000g2015aug_amr=0.7349;1000g2015aug_all=0.573682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 55445613 rs2433674 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21\x3bName\x3e"126644:(AC)n(Simple_repeat)";avsnp150=rs2433674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.7435;1000g2015aug_all=0.577676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55445958 rs1863669 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1863669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.7406;1000g2015aug_all=0.578075;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55445992 rs2495519 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e314\x3bName\x3e"126646:MIR1_Amn(SINE)";avsnp150=rs2495519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.7349;1000g2015aug_all=0.535144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55446373 rs2253476 C A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=UTR5;Gene=NM_182532;GeneDetail=NM_182532:c.-366C>A;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.7522;1000g2015aug_all=0.607428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 55446664 rs2253467 G C 372.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.56;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=UTR5;Gene=NM_182532;GeneDetail=NM_182532:c.-75G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371268.3,ENST00000436960.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.7522;1000g2015aug_all=0.609026;esp6500siv2_all=0.6919;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:401,27,0 1 55446671 rs2253466 C T 373.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.36;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=UTR5;Gene=NM_182532;GeneDetail=NM_182532:c.-68C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436960.1,ENST00000371268.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.7522;1000g2015aug_all=0.608626;esp6500siv2_all=0.6919;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:402,27,0 1 55446697 rs2253465 G A 517.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=UTR5;Gene=NM_182532;GeneDetail=NM_182532:c.-42G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371268.3,ENST00000436960.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.41;1000g2015aug_amr=0.7522;1000g2015aug_all=0.608427;esp6500siv2_all=0.6896;ExAC_ALL=0.7351;ExAC_AFR=0.4697;ExAC_AMR=0.7663;ExAC_EAS=0.5567;ExAC_FIN=0.8465;ExAC_NFE=0.8040;ExAC_OTH=0.6573;ExAC_SAS=0.7440;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:546,45,0 1 55457337 rs2500325 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=intronic;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436960.1,ENST00000371268.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6399;1000g2015aug_sas=0.819;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.8919;1000g2015aug_all=0.789137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 55457710 rs2500326 G A 2867.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=exonic;Gene=NM_182532;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMEM61:NM_182532:exon3:c.G567A:p.A189A;Gencode=Name\x3eENST00000436960.1,ENST00000371268.3;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.819;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.8876;1000g2015aug_all=0.78754;esp6500siv2_all=0.8135;ExAC_ALL=0.7942;ExAC_AFR=0.8202;ExAC_AMR=0.8994;ExAC_EAS=0.6265;ExAC_FIN=0.7629;ExAC_NFE=0.7977;ExAC_OTH=0.7423;ExAC_SAS=0.7928;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:2896,272,0 1 55457815 rs2495513 C T 2226.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.451;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM61;Func=UTR3;Gene=NM_182532;GeneDetail=NM_182532:c.*39C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371268.3,ENST00000436960.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e280\x3bName\x3e"126680:L2b(LINE)";avsnp150=rs2495513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.818;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.889;1000g2015aug_all=0.78754;esp6500siv2_all=0.8136;ExAC_ALL=0.7945;ExAC_AFR=0.8195;ExAC_AMR=0.8998;ExAC_EAS=0.6268;ExAC_FIN=0.7632;ExAC_NFE=0.7983;ExAC_OTH=0.7442;ExAC_SAS=0.7933;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2255,213,0 1 55458691 rs2500329 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_182532;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.8108;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.8847;1000g2015aug_all=0.783546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55464743 rs2500340 T C 650.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBSND;Func=UTR5;Gene=NM_057176;GeneDetail=NM_057176:c.-117T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371265.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500340;cosmic70=.;CLNALLELEID=280880;CLNDN=Bartter's_syndrome;CLNDISDB=MedGen:C0004775,Orphanet:ORPHA112;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.503;1000g2015aug_amr=0.7046;1000g2015aug_all=0.59405;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:679,57,0 1 55464790 rs2500341 C G 923.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBSND;Func=UTR5;Gene=NM_057176;GeneDetail=NM_057176:c.-70C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371265.4;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2500341;cosmic70=.;CLNALLELEID=281402;CLNDN=Bartter's_syndrome;CLNDISDB=MedGen:C0004775,Orphanet:ORPHA112;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.503;1000g2015aug_amr=0.7032;1000g2015aug_all=0.595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:952,87,0 1 55481700 rs2495507 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_057176,NM_174936;GeneDetail=dist\x3e7235\x3bdist\x3e23449;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e414\x3bName\x3e"126742:L2b(LINE)";avsnp150=rs2495507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55505732 rs2495482 A G 1437.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2495482;cosmic70=.;CLNALLELEID=249984;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.8818;1000g2015aug_all=0.908546;esp6500siv2_all=0.9116;ExAC_ALL=0.9370;ExAC_AFR=0.8316;ExAC_AMR=0.8474;ExAC_EAS=0.9410;ExAC_FIN=0.9574;ExAC_NFE=0.9485;ExAC_OTH=0.9224;ExAC_SAS=0.9686;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1466,138,0 1 55505861 rs2479410 G A 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.349;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2479410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.3658;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.2305;1000g2015aug_all=0.245008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,183 1 55509355 rs2495480 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2495480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.8818;1000g2015aug_all=0.90615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 55512549 rs499718 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs499718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.819;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.7738;1000g2015aug_all=0.726837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 55516508 rs10888898 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e635\x3bName\x3e"126824:MLT1C(LTR)";avsnp150=rs10888898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.4047;1000g2015aug_amr=0.67;1000g2015aug_all=0.63099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 55516781 rs599037 G T 4622.77 PASS AC=2;AF=1;AN=2;DP=147;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.202;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs599037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9914;1000g2015aug_all=0.973243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,147:147:99:4651,440,0 1 55517861 rs613855 C G 604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.748;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.643;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e500\x3bName\x3e"126827:MIR(SINE)";avsnp150=rs613855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.171;1000g2015aug_amr=0.6787;1000g2015aug_all=0.488818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,19:38:99:633,0,676 1 55517883 rs624612 C G 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.347;DP=48;ExcessHet=3.0103;FS=1.454;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.599;SOR=0.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs624612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.6282;1000g2015aug_all=0.421326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,21:47:99:668,0,842 1 55518166 rs625619 G A 1846.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs625619;cosmic70=.;CLNALLELEID=260601;CLNDN=Familial_hypercholesterolemia;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.7147;1000g2015aug_all=0.549321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1875,156,0 1 55518198 rs7552350 C A 624.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.801;DP=58;ExcessHet=3.0103;FS=2.215;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.571;SOR=0.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552350;cosmic70=.;CLNALLELEID=260604;CLNDN=Familial_hypercholesterolemia;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.1369;1000g2015aug_all=0.138578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,26:57:99:653,0,973 1 55518316 rs2483205 C T 860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.5;DP=67;ExcessHet=3.0103;FS=2.044;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.075;SOR=1.044;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2483205;cosmic70=.;CLNALLELEID=45333;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.3242;1000g2015aug_all=0.394169;esp6500siv2_all=0.4582;ExAC_ALL=0.4276;ExAC_AFR=0.4971;ExAC_AMR=0.3134;ExAC_EAS=0.2256;ExAC_FIN=0.4604;ExAC_NFE=0.4549;ExAC_OTH=0.4374;ExAC_SAS=0.4476;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,31:67:99:889,0,950 1 55518528 rs494198 C A 787.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=2.002;DP=24;ExcessHet=3.0103;FS=5.351;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.82;ReadPosRankSum=1.446;SOR=1.926;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs494198;cosmic70=.;CLNALLELEID=260611;CLNDN=Familial_hypercholesterolemia;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.7695;1000g2015aug_all=0.629193;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,23:24:62:816,62,0 1 55521313 rs472495 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2038\x3bName\x3e"126834:MLT2D(LTR)";avsnp150=rs472495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7768;1000g2015aug_sas=0.591;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.7262;1000g2015aug_all=0.58107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55523033 rs509504 A G 1325.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=exonic;Gene=NM_174936;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs509504;cosmic70=.;CLNALLELEID=249989;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.9986;1000g2015aug_all=0.981829;esp6500siv2_all=0.9797;ExAC_ALL=0.9945;ExAC_AFR=0.9420;ExAC_AMR=0.9982;ExAC_EAS=1;ExAC_FIN=0.9997;ExAC_NFE=0.9996;ExAC_OTH=0.9956;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1354,132,0 1 55523361 rs533375 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e510\x3bName\x3e"126838:L2b(LINE)";avsnp150=rs533375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.8934;1000g2015aug_all=0.858826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 55523483 rs534347 C T 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e510\x3bName\x3e"126838:L2b(LINE)";avsnp150=rs534347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.8934;1000g2015aug_all=0.858826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 55523984 rs584626 C T 144.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs584626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8963;1000g2015aug_all=0.863019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:173,15,0 1 55524116 rs585131 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs585131;cosmic70=.;CLNALLELEID=260619;CLNDN=Familial_hypercholesterolemia;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.8948;1000g2015aug_all=0.869209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 55524197 rs540796 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=exonic;Gene=NM_174936;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PCSK9:NM_174936:exon9:c.A1380G:p.V460V;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs540796;cosmic70=.;CLNALLELEID=196755;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.8948;1000g2015aug_all=0.869209;esp6500siv2_all=0.8178;ExAC_ALL=0.8544;ExAC_AFR=0.7851;ExAC_AMR=0.9245;ExAC_EAS=0.9914;ExAC_FIN=0.8257;ExAC_NFE=0.8326;ExAC_OTH=0.8794;ExAC_SAS=0.8751;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 55524237 rs562556 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=exonic;Gene=NM_174936;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PCSK9:NM_174936:exon9:c.G1420A:p.V474I;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs562556;cosmic70=.;CLNALLELEID=196757;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.8948;1000g2015aug_all=0.86901;esp6500siv2_all=0.8178;ExAC_ALL=0.8544;ExAC_AFR=0.7853;ExAC_AMR=0.9244;ExAC_EAS=0.9914;ExAC_FIN=0.8255;ExAC_NFE=0.8327;ExAC_OTH=0.8794;ExAC_SAS=0.8751;SIFT_score=0.412;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.555;MutationAssessor_pred=L;FATHMM_score=-0.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.619;phyloP20way_mammalian=-2.003;SiPhy_29way_logOdds=3.846;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55525400 rs483462 G A 303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.183;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.615;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs483462;cosmic70=.;CLNALLELEID=260624;CLNDN=Familial_hypercholesterolemia;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.7925;1000g2015aug_all=0.674321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:332,0,364 1 55527323 rs630431 G A 514.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.226;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.851;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs630431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.7939;1000g2015aug_all=0.674521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:543,0,462 1 55527479 rs631220 A G 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=intronic;Gene=NM_174936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs631220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.8948;1000g2015aug_all=0.861222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 55529187 rs505151 G A 859.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.376;DP=83;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.573;SOR=1.041;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCSK9;Func=exonic;Gene=NM_174936;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PCSK9:NM_174936:exon12:c.G2009A:p.G670E;Gencode=Name\x3eENST00000302118.5;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs505151;cosmic70=.;CLNALLELEID=45331;CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.9744;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.964;1000g2015aug_all=0.898962;esp6500siv2_all=0.8894;ExAC_ALL=0.9433;ExAC_AFR=0.7414;ExAC_AMR=0.9754;ExAC_EAS=0.9460;ExAC_FIN=0.9444;ExAC_NFE=0.9603;ExAC_OTH=0.9553;ExAC_SAS=0.9753;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.339;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.34;MutationAssessor_pred=N;FATHMM_score=-0.35;FATHMM_pred=T;phyloP100way_vertebrate=0.938;phyloP20way_mammalian=0.188;SiPhy_29way_logOdds=4.570;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,37:83:99:888,0,1129 1 55538385 rs654674 T C 317.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs654674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.839;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.915;1000g2015aug_all=0.908746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:346,30,0 1 55541174 rs487230 A G 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.559;DP=58;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.109;SOR=0.41;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=exonic;Gene=NM_015306;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USP24:NM_015306:exon63:c.T7403C:p.V2468A;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs487230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.8473;1000g2015aug_all=0.692292;esp6500siv2_all=0.6401;ExAC_ALL=0.7697;ExAC_AFR=0.3596;ExAC_AMR=0.8929;ExAC_EAS=0.9040;ExAC_FIN=0.7798;ExAC_NFE=0.7696;ExAC_OTH=0.7990;ExAC_SAS=0.8326;SIFT_score=0.367;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.695;MutationTaster_pred=P;MutationAssessor_score=0.49;MutationAssessor_pred=N;FATHMM_score=4.45;FATHMM_pred=T;phyloP100way_vertebrate=5.115;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=11.412;gerp++gt2=4.22;CADD=1.608;CADD_Phred=13.90;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,27:58:99:681,0,838 1 55543079 rs56235208 T C 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.14;DP=51;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.463;SOR=0.844;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e417\x3bName\x3e"126862:MIR3(SINE)";avsnp150=rs56235208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.0348;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:496,0,754 1 55545515 rs550336 C G 629.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs550336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.5877;1000g2015aug_amr=0.8833;1000g2015aug_all=0.802716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:658,57,0 1 55555285 rs548852 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs548852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.8473;1000g2015aug_all=0.691294;esp6500siv2_all=0.6360;ExAC_ALL=0.7701;ExAC_AFR=0.3941;ExAC_AMR=0.8858;ExAC_EAS=0.9013;ExAC_FIN=0.7973;ExAC_NFE=0.7795;ExAC_OTH=0.7823;ExAC_SAS=0.8318;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 55557864 rs3736992 C T 350.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.896;DP=18;ExcessHet=3.0103;FS=2.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=-2.016;SOR=0.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.8473;1000g2015aug_all=0.691494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:379,0,184 1 55557982 rs679941 T A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs679941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 55558661 rs585203 A G 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs585203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.264;1000g2015aug_amr=0.8473;1000g2015aug_all=0.692292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:70:70,0,71 1 55560796 rs503495 T C 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs503495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.8718;1000g2015aug_all=0.767772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 55562125 rs580485 G T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs580485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.839;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.915;1000g2015aug_all=0.908746;esp6500siv2_all=0.8452;ExAC_ALL=0.8483;ExAC_AFR=0.8441;ExAC_AMR=0.9231;ExAC_EAS=0.9959;ExAC_FIN=0.8522;ExAC_NFE=0.8119;ExAC_OTH=0.8760;ExAC_SAS=0.8829;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 55567410 rs615652 A G 2021.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs615652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.857;1000g2015aug_amr=0.915;1000g2015aug_all=0.904353;esp6500siv2_all=0.8536;ExAC_ALL=0.8826;ExAC_AFR=0.8627;ExAC_AMR=0.9444;ExAC_EAS=0.9967;ExAC_FIN=0.8827;ExAC_NFE=0.8565;ExAC_OTH=0.9061;ExAC_SAS=0.9045;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2050,197,0 1 55572867 rs594226 G A 1086.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.038;DP=74;ExcessHet=3.0103;FS=3.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.253;SOR=0.341;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs594226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.2632;1000g2015aug_amr=0.8473;1000g2015aug_all=0.691893;esp6500siv2_all=0.6403;ExAC_ALL=0.7580;ExAC_AFR=0.3215;ExAC_AMR=0.8927;ExAC_EAS=0.9057;ExAC_FIN=0.7730;ExAC_NFE=0.7646;ExAC_OTH=0.7968;ExAC_SAS=0.8347;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,40:74:99:1115,0,994 1 55575670 rs534741 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs534741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9196;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.264;1000g2015aug_amr=0.8473;1000g2015aug_all=0.692492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 55590828 rs502793 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e272\x3bName\x3e"126919:L2c(LINE)";avsnp150=rs502793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.8732;1000g2015aug_all=0.768171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 55619422 rs1165230 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=intronic;Gene=NM_015306;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1165230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8732;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.8732;1000g2015aug_all=0.768371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55638075 rs1165222 G A 1182.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP24;Func=exonic;Gene=NM_015306;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USP24:NM_015306:exon4:c.C677T:p.T226I;Gencode=Name\x3eENST00000294383.6;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1165222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.837;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.9164;1000g2015aug_all=0.907149;esp6500siv2_all=0.8506;ExAC_ALL=0.8763;ExAC_AFR=0.8657;ExAC_AMR=0.9395;ExAC_EAS=0.9952;ExAC_FIN=0.8756;ExAC_NFE=0.8457;ExAC_OTH=0.9004;ExAC_SAS=0.8990;SIFT_score=0.669;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=4.43;FATHMM_pred=T;phyloP100way_vertebrate=2.994;phyloP20way_mammalian=-0.166;SiPhy_29way_logOdds=9.352;gerp++gt2=2.19;CADD=1.469;CADD_Phred=13.15;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1211,105,0 1 55688016 rs11206524 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_146283;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451250.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9226;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.5439;1000g2015aug_amr=0.8674;1000g2015aug_all=0.773363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 55696300 rs74955119 A C 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_146283;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451250.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74955119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 55783920 rs207153 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e84070\x3bdist\x3e597362;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs207153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.8112;1000g2015aug_all=0.779752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 55842312 rs10888917 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e142462\x3bdist\x3e538970;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362961.1;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1695\x3bName\x3e"127489:7SK(RNA)";avsnp150=rs10888917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.3991;1000g2015aug_all=0.285144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 55860561 rs11206577 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e160711\x3bdist\x3e520721;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2303\x3bName\x3e"127528:MER47A(DNA)";avsnp150=rs11206577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.318;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.5764;1000g2015aug_all=0.374601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56022184 rs1780516 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e322334\x3bdist\x3e359098;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e247\x3bName\x3e"127892:MIR3(SINE)";avsnp150=rs1780516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.544;1000g2015aug_eur=0.497;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.3084;1000g2015aug_all=0.411342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 56039347 rs6656588 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e339497\x3bdist\x3e341935;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.7076;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.8545;1000g2015aug_all=0.787141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56073926 rs2221140 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e374076\x3bdist\x3e307356;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422374.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9854\x3bName\x3e"127989:THE1C-int(LTR)";avsnp150=rs2221140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1012;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.1628;1000g2015aug_all=0.197284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56074879 rs769978 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e375029\x3bdist\x3e306403;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422374.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9854\x3bName\x3e"127989:THE1C-int(LTR)";avsnp150=rs769978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.708;1000g2015aug_amr=0.83;1000g2015aug_all=0.77496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56197864 rs777370303 T G 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.619;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e498014\x3bdist\x3e183418;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422374.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31171\x3bName\x3e"128259:HERVL-int(LTR)";avsnp150=rs777370303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:192,0,59 1 56247052 rs3122550 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146283,NR_147162;GeneDetail=dist\x3e547202\x3bdist\x3e134230;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17765\x3bName\x3e"128325:ERVL-int(LTR)";avsnp150=rs3122550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.4827;1000g2015aug_all=0.392772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56632357 rs61096346 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e216566\x3bdist\x3e248278;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"129070:(AAT)n(Simple_repeat)";avsnp150=rs61096346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.121;1000g2015aug_all=0.191294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:61:81,0,61 1 56632407 rs11206749 A G 50.98 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e216616\x3bdist\x3e248228;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1225;1000g2015aug_all=0.201677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:13:79,0,13 1 56632535 rs11206750 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e216744\x3bdist\x3e248100;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2525\x3bName\x3e"129071:AluYf1(SINE)";avsnp150=rs11206750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.1225;1000g2015aug_all=0.201478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 56673450 rs778415 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.282;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e257659\x3bdist\x3e207185;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs778415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.4712;1000g2015aug_all=0.489217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 56673585 rs1236961 T C 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.103;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.817;SOR=0.476;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e257794\x3bdist\x3e207050;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1236961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.5778;1000g2015aug_all=0.683307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:170,0,291 1 56869630 rs4301666 C G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147161,NR_147163;GeneDetail=dist\x3e453839\x3bdist\x3e11005;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6185\x3bName\x3e"129601:L1PB1(LINE)";avsnp150=rs4301666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.4769;1000g2015aug_all=0.322684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 57070849 rs11206862 T C 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003713,NR_135111;GeneDetail=dist\x3e25592\x3bdist\x3e22615;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11206862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.202;1000g2015aug_amr=0.2695;1000g2015aug_all=0.252196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 57070853 rs10789033 G T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003713,NR_135111;GeneDetail=dist\x3e25596\x3bdist\x3e22611;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10789033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.33;1000g2015aug_all=0.403355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 57082026 rs61774285 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003713,NR_135111;GeneDetail=dist\x3e36769\x3bdist\x3e11438;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2027\x3bName\x3e"130096:AluSx(SINE)";avsnp150=rs61774285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.202;1000g2015aug_amr=0.2867;1000g2015aug_all=0.296126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 57111169 rs61772962 C G 511.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371244.8,ENST00000610361.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61772962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.2882;1000g2015aug_all=0.307907;esp6500siv2_all=0.4467;ExAC_ALL=0.4292;ExAC_AFR=0.4265;ExAC_AMR=0.3921;ExAC_EAS=0.2426;ExAC_FIN=0.6101;ExAC_NFE=0.5339;ExAC_OTH=0.4192;ExAC_SAS=0.2697;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:540,51,0 1 57123178 rs2404995 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610361.1,ENST00000371244.8;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2399\x3bName\x3e"130194:AluSx(SINE)";avsnp150=rs2404995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.9928;1000g2015aug_all=0.989816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 57158293 rs7419053 G A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.3;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610361.1,ENST00000371244.8;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7419053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.2723;1000g2015aug_all=0.264177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 57167981 rs7546264 C T 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610361.1,ENST00000371244.8;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2606\x3bName\x3e"130308:AluSp(SINE)";avsnp150=rs7546264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.2824;1000g2015aug_all=0.286941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 57168002 rs857151 T C 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371244.8,ENST00000610361.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2606\x3bName\x3e"130308:AluSp(SINE)";avsnp150=rs857151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.987;1000g2015aug_all=0.976637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 57170229 rs932447 T C 621.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKAA2;Func=intronic;Gene=NM_006252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610361.1,ENST00000371244.8;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.329;1000g2015aug_amr=0.2839;1000g2015aug_all=0.291134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:53:650,53,0 1 57185818 rs857141 A G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.669;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.7954;1000g2015aug_all=0.832668;esp6500siv2_all=0.7761;ExAC_ALL=0.7565;ExAC_AFR=0.9468;ExAC_AMR=0.8582;ExAC_EAS=0.8374;ExAC_FIN=0.6479;ExAC_NFE=0.6934;ExAC_OTH=0.7068;ExAC_SAS=0.8221;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 57191924 rs857138 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.183;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.0879;1000g2015aug_all=0.151957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 57191940 rs857137 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.182;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.0879;1000g2015aug_all=0.151558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 57204097 rs79541345 G C 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=-0.536;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79541345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1409;1000g2015aug_sas=0.136;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.036;1000g2015aug_all=0.0924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 57217116 rs857111 C T 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.504;1000g2015aug_afr=0.6596;1000g2015aug_amr=0.4784;1000g2015aug_all=0.528155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 57221553 rs1774808 G T 2286.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.82;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1774808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9335;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.7565;1000g2015aug_all=0.826078;esp6500siv2_all=0.0405;ExAC_ALL=0.7302;ExAC_AFR=0.9064;ExAC_AMR=0.8228;ExAC_EAS=0.9292;ExAC_FIN=0.6232;ExAC_NFE=0.6633;ExAC_OTH=0.6781;ExAC_SAS=0.7669;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:2315,159,0 1 57221554 rs1738401 A G 2286.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1738401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.7565;1000g2015aug_all=0.826278;esp6500siv2_all=0.0314;ExAC_ALL=0.7302;ExAC_AFR=0.9064;ExAC_AMR=0.8228;ExAC_EAS=0.9292;ExAC_FIN=0.6231;ExAC_NFE=0.6634;ExAC_OTH=0.6781;ExAC_SAS=0.7668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2315,159,0 1 57224460 rs857103 G C 944.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.7406;1000g2015aug_all=0.827276;esp6500siv2_all=0.7280;ExAC_ALL=0.7195;ExAC_AFR=0.9318;ExAC_AMR=0.8157;ExAC_EAS=0.9306;ExAC_FIN=0.6217;ExAC_NFE=0.6332;ExAC_OTH=0.6585;ExAC_SAS=0.7646;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:973,84,0 1 57232805 rs857093 T C 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e342\x3bName\x3e"130430:MIRb(SINE)";avsnp150=rs857093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.2406;1000g2015aug_all=0.388379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 57238202 rs857162 C A 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.7997;1000g2015aug_all=0.875799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 57252494 rs6658389 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.232;1000g2015aug_all=0.260783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 57257817 rs2298130 T C 2329.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=exonic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf168:NM_001004303:exon2:c.A669G:p.K223K;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.3601;1000g2015aug_amr=0.1599;1000g2015aug_all=0.251398;esp6500siv2_all=0.2003;ExAC_ALL=0.1718;ExAC_AFR=0.3339;ExAC_AMR=0.1277;ExAC_EAS=0.3211;ExAC_FIN=0.1285;ExAC_NFE=0.1413;ExAC_OTH=0.1552;ExAC_SAS=0.1668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2358,216,0 1 57258885 rs8179502 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8179502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.987;1000g2015aug_all=0.983227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 57275700 rs12139639 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf168;Func=intronic;Gene=NM_001004303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343433.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.8487;1000g2015aug_all=0.761182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 57340381 rs1885002 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e366\x3bName\x3e"130690:L3(LINE)";avsnp150=rs1885002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3127;1000g2015aug_all=0.211661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 57340860 rs2269118 G A 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.499;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-0.563;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e242\x3bName\x3e"130692:MER5A1(DNA)";avsnp150=rs2269118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.3184;1000g2015aug_all=0.242013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,18:29:99:519,0,373 1 57349407 rs6694643 A T 623.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.304;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.19;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.3127;1000g2015aug_all=0.211062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:652,0,521 1 57349464 rs6697228 T C 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0.413;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.3127;1000g2015aug_all=0.211062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:402,0,275 1 57351445 rs139789526 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2477\x3bName\x3e"130722:AluSc5(SINE)";avsnp150=rs139789526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1383;1000g2015aug_all=0.0696885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 57372591 rs619545 C T 669.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.008;DP=52;ExcessHet=3.0103;FS=1.335;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.166;SOR=1.077;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs619545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.6499;1000g2015aug_all=0.863818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:698,0,857 1 57378413 rs623077 T C 173.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8A;Func=intronic;Gene=NM_000562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361249.3;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.9035;1000g2015aug_all=0.919329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:202,15,0 1 57395251 rs605648 T C 1782.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.831;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=intronic;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371237.8,ENST00000543257.5,ENST00000535057.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs605648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.8905;1000g2015aug_all=0.880391;esp6500siv2_all=0.8297;ExAC_ALL=0.8822;ExAC_AFR=0.7922;ExAC_AMR=0.9294;ExAC_EAS=0.9388;ExAC_FIN=0.9150;ExAC_NFE=0.8557;ExAC_OTH=0.8921;ExAC_SAS=0.9698;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1811,180,0 1 57395434 rs2281598 C G 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=intronic;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371237.8,ENST00000543257.5,ENST00000535057.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e498\x3bName\x3e"130820:L2b(LINE)";avsnp150=rs2281598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.232;1000g2015aug_all=0.176717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 57406392 rs6669836 T C 1347.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=2.247;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=intronic;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371237.8,ENST00000543257.5,ENST00000535057.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4038;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.4222;1000g2015aug_all=0.388179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1376,123,0 1 57422484 rs1013579 C T 2288.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.887;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=exonic;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R;Gencode=Name\x3eENST00000371237.8,ENST00000543257.5,ENST00000535057.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1013579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9683;1000g2015aug_all=0.986422;esp6500siv2_all=0.9758;ExAC_ALL=0.9773;ExAC_AFR=0.9937;ExAC_AMR=0.9774;ExAC_EAS=0.9999;ExAC_FIN=0.9835;ExAC_NFE=0.9683;ExAC_OTH=0.9703;ExAC_SAS=0.9896;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.014;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.89;FATHMM_pred=T;phyloP100way_vertebrate=0.950;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=10.316;gerp++gt2=.;CADD=1.761;CADD_Phred=14.76;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2317,231,0 1 57425474 rs683916 A T 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.282;SOR=1.447;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=intronic;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535057.5,ENST00000371237.8,ENST00000543257.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs683916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.333;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.3314;1000g2015aug_all=0.351637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 57431629 rs72670382 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.451;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=0.083;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC8B;Func=UTR5;Gene=NM_000066,NM_001278543,NM_001278544;GeneDetail=NM_000066:c.-8T>C\x3bNM_001278543:c.-5844T>C\x3bNM_001278544:c.-6365T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371237.8,ENST00000543257.5,ENST00000417420.1,ENST00000535057.5;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72670382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0113818;esp6500siv2_all=0.0179;ExAC_ALL=0.0184;ExAC_AFR=0.0046;ExAC_AMR=0.0150;ExAC_EAS=0.0001;ExAC_FIN=0.0229;ExAC_NFE=0.0245;ExAC_OTH=0.0267;ExAC_SAS=0.0122;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,8:26:99:221,0,571 1 57477034 rs697580 G C 333.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.314;DP=21;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.211;SOR=0.088;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420954.6,ENST00000371236.6,ENST00000371231.5,ENST00000414851.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs697580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.3415;1000g2015aug_all=0.336262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:362,0,355 1 57480424 rs944923 C G 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.572;DP=25;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.123;SOR=0.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371231.5,ENST00000371236.6,ENST00000414851.6,ENST00000420954.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs944923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.3415;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:350,0,510 1 57489137 rs3738558 T C 1239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.569;DP=94;ExcessHet=3.0103;FS=7.557;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.829;SOR=0.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371236.6,ENST00000371231.5,ENST00000414851.6,ENST00000420954.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.2738;1000g2015aug_all=0.205272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,49:94:99:1268,0,1355 1 57489529 rs3820579 A C 172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.932;DP=29;ExcessHet=3.0103;FS=1.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=-1.123;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371236.6,ENST00000371231.5,ENST00000414851.6,ENST00000420954.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e211\x3bName\x3e"131014:MIRb(SINE)";avsnp150=rs3820579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.2738;1000g2015aug_all=0.213658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,8:29:99:201,0,603 1 57528772 rs1261611 A G 698.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420954.6,ENST00000414851.6,ENST00000371231.5,ENST00000371236.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1261611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.9438;1000g2015aug_all=0.871805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:727,60,0 1 57535198 rs3738556 C A 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.917;DP=32;ExcessHet=3.0103;FS=6.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.273;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420954.6,ENST00000371236.6,ENST00000371231.5,ENST00000414851.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.17;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.3256;1000g2015aug_all=0.297324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,12:32:99:373,0,591 1 57536941 rs3738555 A G 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.381;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420954.6,ENST00000371230.1,ENST00000414851.6,ENST00000371231.5,ENST00000371236.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.171;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.3084;1000g2015aug_all=0.250799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,267 1 57546698 rs3768188 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371230.1,ENST00000420954.6,ENST00000371236.6,ENST00000371231.5,ENST00000414851.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.2983;1000g2015aug_all=0.244409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 57546708 rs3768187 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420954.6,ENST00000371230.1,ENST00000414851.6,ENST00000371231.5,ENST00000371236.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.3098;1000g2015aug_all=0.270367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 57602334 rs564665 G A 590.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.298;DP=37;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.402;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371236.6,ENST00000371231.5,ENST00000414851.6,ENST00000371230.1,ENST00000420954.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs564665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1196;1000g2015aug_all=0.125599;esp6500siv2_all=0.1449;ExAC_ALL=0.1418;ExAC_AFR=0.1328;ExAC_AMR=0.0937;ExAC_EAS=0.0201;ExAC_FIN=0.0811;ExAC_NFE=0.1578;ExAC_OTH=0.1553;ExAC_SAS=0.2062;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,22:37:99:619,0,447 1 57602383 rs563921 T C 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.082;DP=28;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-1.083;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371230.1,ENST00000420954.6,ENST00000371231.5,ENST00000371236.6,ENST00000414851.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs563921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.2896;1000g2015aug_all=0.393171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,15:28:99:471,0,357 1 57680350 rs197601 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371236.6,ENST00000371231.5,ENST00000414851.6,ENST00000371230.1,ENST00000420954.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2691\x3bName\x3e"131428:AluY(SINE)";avsnp150=rs197601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.5331;1000g2015aug_all=0.492612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 57680358 rs197600 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371230.1,ENST00000420954.6,ENST00000371236.6,ENST00000371231.5,ENST00000414851.6;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2691\x3bName\x3e"131428:AluY(SINE)";avsnp150=rs197600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.5331;1000g2015aug_all=0.492812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 57756842 rs76376472 C A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371236.6,ENST00000371230.1;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76376472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.013;1000g2015aug_all=0.0157748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 58028556 rs2805863 G A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e43327\x3bName\x3e"132219:HERVL-int(LTR)";avsnp150=rs2805863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9851;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.8069;1000g2015aug_all=0.871406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 58436120 rs1936411 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1936411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.9265;1000g2015aug_all=0.8123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 58514211 rs115028639 C A 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=1.113;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAB1;Func=intronic;Gene=NM_021080;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=Score\x3e0.938336\x3bName\x3echr19:11665745;Repeat=.;avsnp150=rs115028639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00658946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:145,0,144 1 58748004 rs9436585 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021080,NM_145243;GeneDetail=dist\x3e31793\x3bdist\x3e198387;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e299\x3bName\x3e"133876:L2b(LINE)";avsnp150=rs9436585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.9366;1000g2015aug_all=0.926518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 58855299 rs17117430 T C 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021080,NM_145243;GeneDetail=dist\x3e139088\x3bdist\x3e91092;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"134122:MIRb(SINE)";avsnp150=rs17117430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.2867;1000g2015aug_all=0.454872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 58939634 rs12407003 G A 1221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.268;DP=100;ExcessHet=3.0103;FS=11.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.256;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021080,NM_145243;GeneDetail=dist\x3e223423\x3bdist\x3e6757;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1844;1000g2015aug_all=0.196086;esp6500siv2_all=.;ExAC_ALL=0.1912;ExAC_AFR=0.0331;ExAC_AMR=0.1884;ExAC_EAS=0.4568;ExAC_FIN=0.2426;ExAC_NFE=0.1297;ExAC_OTH=0.1893;ExAC_SAS=0.2252;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,48:100:99:1250,0,1360 1 59004979 rs902925 C T 1313.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=2.362;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOMA1;Func=UTR5;Gene=NM_145243;GeneDetail=NM_145243:c.-13G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371226.7;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs902925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975439;esp6500siv2_all=0.9751;ExAC_ALL=0.9929;ExAC_AFR=0.9222;ExAC_AMR=0.9963;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9954;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1342,117,0 1 59011985 rs2406785 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOMA1;Func=intronic;Gene=NM_145243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371226.7;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2406785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.7651;1000g2015aug_all=0.644968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 59011987 rs2406784 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOMA1;Func=intronic;Gene=NM_145243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371226.7;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2406784;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.8108;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.7752;1000g2015aug_all=0.6873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 59096433 rs75415819 T C 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.998;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.29;MQRankSum=-2;QD=12.48;ReadPosRankSum=-1.452;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53267\x3bdist\x3e23978;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75415819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:178,0,368 1 59096436 rs76817499 C T 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.59;MQRankSum=-2.109;QD=11.52;ReadPosRankSum=-0.707;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53270\x3bdist\x3e23975;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76817499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:178,0,368 1 59096479 rs76214975 G A 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.622;DP=30;ExcessHet=3.0103;FS=1.477;MLEAC=1;MLEAF=0.5;MQ=58.55;MQRankSum=-2.314;QD=12.56;ReadPosRankSum=0.646;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53313\x3bdist\x3e23932;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76214975;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:405,0,909 1 59096487 rs76240273 T G 445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.557;DP=35;ExcessHet=3.0103;FS=1.402;MLEAC=1;MLEAF=0.5;MQ=58.37;MQRankSum=-3.058;QD=12.74;ReadPosRankSum=0.564;SOR=0.385;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53321\x3bdist\x3e23924;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76240273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,13:35:99:474,0,1109 1 59096494 rs72676738 T C 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.748;DP=36;ExcessHet=3.0103;FS=1.321;MLEAC=1;MLEAF=0.5;MQ=58.42;MQRankSum=-2.941;QD=13.6;ReadPosRankSum=0.016;SOR=0.467;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53328\x3bdist\x3e23917;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72676738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,14:36:99:518,0,1022 1 59096544 rs72922139 A G 393.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.661;DP=53;ExcessHet=3.0103;FS=4.044;MLEAC=1;MLEAF=0.5;MQ=58.53;MQRankSum=-3.895;QD=7.43;ReadPosRankSum=0.31;SOR=0.315;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53378\x3bdist\x3e23867;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72922139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,18:53:99:422,0,1030 1 59096581 rs72676740 T C 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.774;DP=62;ExcessHet=3.0103;FS=2.395;MLEAC=1;MLEAF=0.5;MQ=57.69;MQRankSum=-5.12;QD=10.67;ReadPosRankSum=0.038;SOR=0.369;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53415\x3bdist\x3e23830;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72676740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,19:62:99:690,0,2760 1 59096582 rs72676741 G A 703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.53;DP=62;ExcessHet=3.0103;FS=2.395;MLEAC=1;MLEAF=0.5;MQ=57.58;MQRankSum=-5.417;QD=11.35;ReadPosRankSum=0;SOR=0.369;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53416\x3bdist\x3e23829;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72676741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,19:62:99:732,0,2757 1 59096598 rs72676742 C T 717.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.594;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.56;MQRankSum=-5.889;QD=11.22;ReadPosRankSum=-0.043;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53432\x3bdist\x3e23813;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72676742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,20:64:99:746,0,2774 1 59096610 rs76970103 T A 810.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.044;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.52;MQRankSum=-5.623;QD=12.87;ReadPosRankSum=-0.401;SOR=0.663;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53444\x3bdist\x3e23801;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76970103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,21:63:99:839,0,2509 1 59096630 rs75507867 G A 768.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.821;DP=63;ExcessHet=3.0103;FS=2.378;MLEAC=1;MLEAF=0.5;MQ=57.52;MQRankSum=-5.623;QD=12.2;ReadPosRankSum=0.036;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53464\x3bdist\x3e23781;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75507867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,21:63:99:797,0,2355 1 59096641 rs74371537 G C 849.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.398;DP=66;ExcessHet=3.0103;FS=5.176;MLEAC=1;MLEAF=0.5;MQ=57.84;MQRankSum=-4.738;QD=12.88;ReadPosRankSum=-0.553;SOR=1.367;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53475\x3bdist\x3e23770;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74371537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,24:66:99:878,0,2258 1 59096652 rs78363929 C A 921.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.4;DP=69;ExcessHet=3.0103;FS=8.808;MLEAC=1;MLEAF=0.5;MQ=57.94;MQRankSum=-4.735;QD=13.36;ReadPosRankSum=0.069;SOR=1.747;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53486\x3bdist\x3e23759;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78363929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,25:69:99:950,0,2262 1 59096656 rs111864749 A G 1002.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.974;DP=74;ExcessHet=3.0103;FS=10.374;MLEAC=1;MLEAF=0.5;MQ=58.08;MQRankSum=-4.824;QD=13.55;ReadPosRankSum=0.623;SOR=1.669;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53490\x3bdist\x3e23755;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111864749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,26:74:99:1031,0,2298 1 59096669 rs75913621 C G 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.466;DP=76;ExcessHet=3.0103;FS=11.822;MLEAC=1;MLEAF=0.5;MQ=58.27;MQRankSum=-4.042;QD=14.89;ReadPosRankSum=-0.555;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53503\x3bdist\x3e23742;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75913621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,31:76:99:1160,0,2080 1 59096689 rs74079626 A G 1347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.763;DP=81;ExcessHet=3.0103;FS=7.546;MLEAC=1;MLEAF=0.5;MQ=59.01;MQRankSum=-3.107;QD=16.85;ReadPosRankSum=-0.834;SOR=0.993;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53523\x3bdist\x3e23722;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74079626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,35:80:99:1376,0,1781 1 59096693 rs74079627 G A 1335.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.765;DP=83;ExcessHet=3.0103;FS=9.005;MLEAC=1;MLEAF=0.5;MQ=59.03;MQRankSum=-3.095;QD=16.29;ReadPosRankSum=-0.804;SOR=1.084;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53527\x3bdist\x3e23718;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74079627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,36:82:99:1364,0,1820 1 59096853 rs78779878 C T 585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.24;DP=51;ExcessHet=3.0103;FS=2.524;MLEAC=1;MLEAF=0.5;MQ=59.47;MQRankSum=-1.458;QD=11.72;ReadPosRankSum=0.058;SOR=1.138;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002353,NM_001085487;GeneDetail=dist\x3e53687\x3bdist\x3e23558;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78779878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:614,0,663 1 59125683 rs232777 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.296;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.917;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=exonic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYSM1:NM_001085487:exon20:c.G2473A:p.E825K;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs232777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.2666;1000g2015aug_all=0.302516;esp6500siv2_all=0.2384;ExAC_ALL=0.2409;ExAC_AFR=0.4109;ExAC_AMR=0.2759;ExAC_EAS=0.2433;ExAC_FIN=0.3434;ExAC_NFE=0.1855;ExAC_OTH=0.2659;ExAC_SAS=0.2995;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.692;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=1.73;FATHMM_pred=T;phyloP100way_vertebrate=0.137;phyloP20way_mammalian=0.042;SiPhy_29way_logOdds=3.864;gerp++gt2=.;CADD=2.932;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:143,0,185 1 59126616 rs232778 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs232778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.9121;1000g2015aug_all=0.914537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 59126676 rs232779 A C 551.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5,ENST00000622766.1;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs232779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.9121;1000g2015aug_all=0.914736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:580,42,0 1 59127024 rs4912364 T G 595.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.285;DP=44;ExcessHet=3.0103;FS=2.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.129;SOR=0.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4912364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.2924;1000g2015aug_eur=0.3857;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.402;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,23:44:99:624,0,575 1 59127207 rs232780 T C 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs232780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.2666;1000g2015aug_all=0.302915;esp6500siv2_all=0.2393;ExAC_ALL=0.2502;ExAC_AFR=0.4164;ExAC_AMR=0.2876;ExAC_EAS=0.2572;ExAC_FIN=0.3484;ExAC_NFE=0.1958;ExAC_OTH=0.2618;ExAC_SAS=0.2934;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 59131088 rs516956 A G 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.135;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.2;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5,ENST00000622766.1;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs516956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.2666;1000g2015aug_all=0.303115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:492,0,1159 1 59131089 rs516957 A C 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.373;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.26;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs516957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.2666;1000g2015aug_all=0.303115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:492,0,1159 1 59131311 rs232790 G T 1764.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=1.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs232790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.9092;1000g2015aug_all=0.895168;esp6500siv2_all=0.8648;ExAC_ALL=0.8933;ExAC_AFR=0.8527;ExAC_AMR=0.9404;ExAC_EAS=0.9303;ExAC_FIN=0.9184;ExAC_NFE=0.8753;ExAC_OTH=0.8895;ExAC_SAS=0.9280;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1793,165,0 1 59131481 rs232791 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622766.1,ENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2229\x3bName\x3e"134741:AluSz(SINE)";avsnp150=rs232791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.6671;1000g2015aug_all=0.646565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 59134586 rs11207284 G C 751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.932;DP=74;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.815;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3666;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,30:74:99:780,0,1173 1 59137783 rs539141 A G 346.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs539141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.6686;1000g2015aug_all=0.647963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:375,27,0 1 59139223 rs2064370 C G 1111.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=2.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2064370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.6383;1000g2015aug_all=0.582069;esp6500siv2_all=0.5500;ExAC_ALL=0.5978;ExAC_AFR=0.4932;ExAC_AMR=0.6415;ExAC_EAS=0.6544;ExAC_FIN=0.7200;ExAC_NFE=0.5849;ExAC_OTH=0.6061;ExAC_SAS=0.6025;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1140,99,0 1 59139537 rs11207287 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.6383;1000g2015aug_all=0.582268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 59141365 rs17118097 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17118097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.4438;1000g2015aug_all=0.342652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 59142713 rs579110 T C 2530.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=0.824;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=exonic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MYSM1:NM_001085487:exon9:c.A1275G:p.P425P;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs579110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6686;1000g2015aug_all=0.647364;esp6500siv2_all=0.6071;ExAC_ALL=0.6118;ExAC_AFR=0.6863;ExAC_AMR=0.6487;ExAC_EAS=0.6532;ExAC_FIN=0.7191;ExAC_NFE=0.5819;ExAC_OTH=0.6111;ExAC_SAS=0.5978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2559,237,0 1 59147420 rs11207292 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.6369;1000g2015aug_all=0.582268;esp6500siv2_all=0.5454;ExAC_ALL=0.6047;ExAC_AFR=0.4993;ExAC_AMR=0.6414;ExAC_EAS=0.6474;ExAC_FIN=0.7196;ExAC_NFE=0.5929;ExAC_OTH=0.6280;ExAC_SAS=0.6184;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 59147926 rs12139511 T C 672.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.03;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=exonic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYSM1:NM_001085487:exon8:c.A790G:p.T264A;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.6643;1000g2015aug_all=0.631989;esp6500siv2_all=0.5919;ExAC_ALL=0.6078;ExAC_AFR=0.6343;ExAC_AMR=0.6473;ExAC_EAS=0.6527;ExAC_FIN=0.7204;ExAC_NFE=0.5826;ExAC_OTH=0.6078;ExAC_SAS=0.5977;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.933;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.61;MutationAssessor_pred=N;FATHMM_score=2.01;FATHMM_pred=T;phyloP100way_vertebrate=0.227;phyloP20way_mammalian=-0.052;SiPhy_29way_logOdds=0.666;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:701,57,0 1 59148118 rs17118103 A T 561.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.232;DP=40;ExcessHet=3.0103;FS=2.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.178;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=exonic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYSM1:NM_001085487:exon8:c.T598A:p.C200S;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17118103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1527;1000g2015aug_all=0.155751;esp6500siv2_all=0.1129;ExAC_ALL=0.1787;ExAC_AFR=0.0247;ExAC_AMR=0.1671;ExAC_EAS=0.2428;ExAC_FIN=0.3279;ExAC_NFE=0.1633;ExAC_OTH=0.2089;ExAC_SAS=0.2452;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.577;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.92;MutationAssessor_pred=L;FATHMM_score=2.12;FATHMM_pred=T;phyloP100way_vertebrate=-0.137;phyloP20way_mammalian=0.189;SiPhy_29way_logOdds=1.230;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:590,0,410 1 59150941 rs2206764 G A 187.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2206764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.745;1000g2015aug_all=0.728834;esp6500siv2_all=.;ExAC_ALL=0.8994;ExAC_AFR=0.9109;ExAC_AMR=0.9422;ExAC_EAS=0.9311;ExAC_FIN=0.9206;ExAC_NFE=0.8769;ExAC_OTH=0.8945;ExAC_SAS=0.9272;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:216,18,0 1 59158632 rs12097333 T C 802.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYSM1;Func=intronic;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472487.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.6369;1000g2015aug_all=0.581869;esp6500siv2_all=0.5451;ExAC_ALL=0.5947;ExAC_AFR=0.4884;ExAC_AMR=0.6363;ExAC_EAS=0.6532;ExAC_FIN=0.7194;ExAC_NFE=0.5818;ExAC_OTH=0.6072;ExAC_SAS=0.5994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:831,81,0 1 59165838 rs11207297 T G 353.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.105;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.252;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001085487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.4438;1000g2015aug_all=0.334265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:382,0,227 1 59200910 rs2811865 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001085487,NM_002228;GeneDetail=dist\x3e35163\x3bdist\x3e45553;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2602\x3bName\x3e"134892:MSTA(LTR)";avsnp150=rs2811865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.727;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.5562;1000g2015aug_all=0.6248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 59236154 . T G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.81;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001085487,NM_002228;GeneDetail=dist\x3e70407\x3bdist\x3e10309;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e307\x3bName\x3e"134977:MIRb(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 59248813 rs2760499 G C 2668.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJUN;Func=UTR5;Gene=NM_002228;GeneDetail=NM_002228:c.-71C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371222.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2760499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8268;1000g2015aug_amr=0.9841;1000g2015aug_all=0.951877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2697,216,0 1 59249031 rs2811894 T G 133.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJUN;Func=UTR5;Gene=NM_002228;GeneDetail=NM_002228:c.-289A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371222.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2811894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9914;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:161,12,0 1 59364615 rs11207326 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01135;Func=ncRNA_intronic;Gene=NR_034014,NR_034015,NR_108106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419531.2;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.3919;1000g2015aug_all=0.322883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 59364918 rs6658104 G A 1586.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01135;Func=ncRNA_exonic;Gene=NR_034014,NR_034015,NR_108106;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419531.2;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.4193;1000g2015aug_all=0.408946;esp6500siv2_all=.;ExAC_ALL=0.4470;ExAC_AFR=0.3457;ExAC_AMR=0.4457;ExAC_EAS=0.4926;ExAC_FIN=.;ExAC_NFE=0.3185;ExAC_OTH=0.4052;ExAC_SAS=0.4958;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1615,146,0 1 59559512 rs7556224 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110626,NR_027120;GeneDetail=dist\x3e5593\x3bdist\x3e38096;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4286;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.4078;1000g2015aug_all=0.494808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 59572316 rs1114505 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110626,NR_027120;GeneDetail=dist\x3e18397\x3bdist\x3e25292;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e734\x3bName\x3e"135804:MIR(SINE)";avsnp150=rs1114505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9888;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.9697;1000g2015aug_all=0.980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 59627503 rs529709 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027120,NM_001350793;GeneDetail=dist\x3e15024\x3bdist\x3e134807;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436225.1,ENST00000625548.1;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2076\x3bName\x3e"135949:MLT1A0(LTR)";avsnp150=rs529709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9193;1000g2015aug_all=0.954673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 59663341 rs60199046 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027120,NM_001350793;GeneDetail=dist\x3e50862\x3bdist\x3e98969;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000625548.1,ENST00000436225.1;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60199046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.1369;1000g2015aug_all=0.15016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 59844471 rs835435 G A 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.65;DP=64;ExcessHet=3.0103;FS=2.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.007;SOR=1.011;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=exonic;Gene=NM_001113411,NM_001244714,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FGGY:NM_001244714:exon3:c.G252A:p.P84P,FGGY:NM_001350795:exon3:c.G252A:p.P84P,FGGY:NM_001350796:exon4:c.G180A:p.P60P,FGGY:NM_001350797:exon4:c.G114A:p.P38P,FGGY:NM_001350798:exon4:c.G180A:p.P60P,FGGY:NM_001350799:exon4:c.G180A:p.P60P,FGGY:NM_001113411:exon5:c.G516A:p.P172P,FGGY:NM_001350790:exon5:c.G516A:p.P172P,FGGY:NM_001350791:exon5:c.G516A:p.P172P,FGGY:NM_001350794:exon5:c.G516A:p.P172P,FGGY:NM_018291:exon5:c.G516A:p.P172P,FGGY:NM_001350792:exon7:c.G348A:p.P116P,FGGY:NM_001350793:exon7:c.G348A:p.P116P;Gencode=Name\x3eENST00000371212.5,ENST00000303721.11,ENST00000371218.8;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs835435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.6785;1000g2015aug_amr=0.4078;1000g2015aug_all=0.493211;esp6500siv2_all=0.4618;ExAC_ALL=0.4233;ExAC_AFR=0.6345;ExAC_AMR=0.3870;ExAC_EAS=0.4865;ExAC_FIN=0.4775;ExAC_NFE=0.3826;ExAC_OTH=0.4053;ExAC_SAS=0.4263;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,24:64:99:640,0,1138 1 59887078 rs66478136 T A 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=intronic;Gene=NM_001113411,NM_001244714,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303721.11,ENST00000371212.5,ENST00000371218.8;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e695\x3bName\x3e"136525:L1MC5(LINE)";avsnp150=rs66478136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4097;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.4078;1000g2015aug_all=0.482228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 60155520 rs11580721 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=intronic;Gene=NM_001113411,NM_001244714,NM_001278224,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000303721.11,ENST00000371212.5,ENST00000371218.8,ENST00000371210.1;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.4308;1000g2015aug_all=0.483626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 60155561 rs12069900 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=intronic;Gene=NM_001113411,NM_001244714,NM_001278224,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371210.1,ENST00000371218.8,ENST00000371212.5,ENST00000303721.11;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12069900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.8242;1000g2015aug_all=0.761382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 60223332 rs591512 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=intronic;Gene=NM_001113411,NM_001244714,NM_001278224,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371218.8,ENST00000443012.1,ENST00000371210.1,ENST00000303721.11,ENST00000371212.5;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs591512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.9193;1000g2015aug_all=0.920527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 60223460 rs590704 A G 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.358;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-1.424;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFGGY;Func=intronic;Gene=NM_001113411,NM_001244714,NM_001278224,NM_001350790,NM_001350791,NM_001350792,NM_001350793,NM_001350794,NM_001350795,NM_001350796,NM_001350797,NM_001350798,NM_001350799,NM_018291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371210.1,ENST00000443012.1,ENST00000371218.8,ENST00000371212.5,ENST00000303721.11;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs590704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.4063;1000g2015aug_all=0.341454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:330,0,212 1 60299820 rs618716 C G 1230.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHOOK1;Func=intronic;Gene=NM_015888;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371208.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs618716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.8934;1000g2015aug_all=0.958466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1259,105,0 1 60373775 rs1155002 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.207;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.021;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=intronic;Gene=NM_000775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1155002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.6945;1000g2015aug_all=0.723642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,215 1 60377133 rs1570693 T G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=intronic;Gene=NM_000775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1570693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.2478;1000g2015aug_all=0.261781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 60381437 rs11572245 C G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=intronic;Gene=NM_000775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11572245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.1744;1000g2015aug_all=0.0882588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 60381897 rs3820538 G A 173.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.83;ReadPosRankSum=0;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=intronic;Gene=NM_000775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"137459:(GT)n(Simple_repeat)";avsnp150=rs3820538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.17;1000g2015aug_all=0.0740815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:202,0,21 1 60391946 rs3754206 G A 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.469;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=intronic;Gene=NM_000775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.2248;1000g2015aug_all=0.232827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,222 1 60392271 rs11572191 G A 1353.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.015;DP=115;ExcessHet=3.0103;FS=3.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.588;SOR=0.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYP2J2;Func=exonic;Gene=NM_000775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CYP2J2:NM_000775:exon1:c.C148T:p.L50L;Gencode=Name\x3eENST00000371204.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11572191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.0908;1000g2015aug_all=0.0399361;esp6500siv2_all=0.0833;ExAC_ALL=0.0797;ExAC_AFR=0.0211;ExAC_AMR=0.0570;ExAC_EAS=0;ExAC_FIN=0.0977;ExAC_NFE=0.1127;ExAC_OTH=0.0965;ExAC_SAS=0.0334;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,51:115:99:1382,0,1953 1 60448820 rs2786756 T C 66.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000775,NM_152377;GeneDetail=dist\x3e56350\x3bdist\x3e7246;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e410\x3bName\x3e"137602:L2c(LINE)";avsnp150=rs2786756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.816;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.7968;1000g2015aug_all=0.751398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:94,9,0 1 60466814 rs626251 T C 729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.421;DP=50;ExcessHet=3.0103;FS=4.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.978;SOR=0.286;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf87;Func=exonic;Gene=NM_152377;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf87:NM_152377:exon10:c.A1207G:p.K403E;Gencode=Name\x3eENST00000371201.3,ENST00000450089.6;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs626251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.6167;1000g2015aug_all=0.551118;esp6500siv2_all=0.5084;ExAC_ALL=0.5038;ExAC_AFR=0.6074;ExAC_AMR=0.6289;ExAC_EAS=0.6450;ExAC_FIN=0.4400;ExAC_NFE=0.4675;ExAC_OTH=0.5251;ExAC_SAS=0.4465;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.161;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.28;MutationAssessor_pred=N;FATHMM_score=2.43;FATHMM_pred=T;phyloP100way_vertebrate=0.131;phyloP20way_mammalian=-0.819;SiPhy_29way_logOdds=6.824;gerp++gt2=2.19;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,28:50:99:758,0,649 1 60472097 rs11207565 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf87;Func=intronic;Gene=NM_152377;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371201.3,ENST00000450089.6;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.1945;1000g2015aug_all=0.128994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 60474375 rs17119974 C T 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.769;DP=60;ExcessHet=3.0103;FS=0.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-2.517;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf87;Func=intronic;Gene=NM_152377;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371201.3,ENST00000450089.6;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17119974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.2017;1000g2015aug_all=0.125998;esp6500siv2_all=.;ExAC_ALL=0.1352;ExAC_AFR=0.1160;ExAC_AMR=0.1339;ExAC_EAS=0.1584;ExAC_FIN=0.1107;ExAC_NFE=0.1827;ExAC_OTH=0.125;ExAC_SAS=0.1106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,31:60:99:740,0,793 1 60475930 rs616949 C G 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.008;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-1.242;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf87;Func=intronic;Gene=NM_152377;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450089.6,ENST00000371201.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs616949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.6081;1000g2015aug_all=0.640775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,17:26:99:496,0,286 1 60505578 rs680390 A G 1322.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.69;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf87;Func=intronic;Gene=NM_152377;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450089.6,ENST00000371201.3;cytoBand=1p32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs680390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8012;1000g2015aug_all=0.852037;esp6500siv2_all=0.9057;ExAC_ALL=0.8704;ExAC_AFR=0.9134;ExAC_AMR=0.6975;ExAC_EAS=0.7592;ExAC_FIN=0.8764;ExAC_NFE=0.9022;ExAC_OTH=0.8874;ExAC_SAS=0.8921;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1351,102,0 1 61327945 rs453366 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110628,NR_110617;GeneDetail=dist\x3e36689\x3bdist\x3e77971;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs453366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=1;1000g2015aug_afr=0.9614;1000g2015aug_amr=0.9928;1000g2015aug_all=0.988219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 61441221 rs185857325 T C 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.465;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110617,NM_001145511;GeneDetail=dist\x3e4773\x3bdist\x3e101725;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371191.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e252\x3bName\x3e"139575:L2c(LINE)";avsnp150=rs185857325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:63:120,0,63 1 61441320 rs12562350 C T 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.34;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110617,NM_001145511;GeneDetail=dist\x3e4872\x3bdist\x3e101626;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371191.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12562350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.2161;1000g2015aug_all=0.245208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 61441322 rs10789091 A C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.72;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110617,NM_001145511;GeneDetail=dist\x3e4874\x3bdist\x3e101624;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371191.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10789091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.882;1000g2015aug_amr=0.3329;1000g2015aug_all=0.547324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 61542892 rs1779863 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001145511;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371191.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 61554048 rs41289414 C T 883.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.596;DP=82;ExcessHet=3.0103;FS=0.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.24;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=exonic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NFIA:NM_001134673:exon2:c.C255T:p.P85P,NFIA:NM_001145511:exon2:c.C231T:p.P77P,NFIA:NM_005595:exon2:c.C255T:p.P85P,NFIA:NM_001145512:exon3:c.C390T:p.P130P;Gencode=Name\x3eENST00000371184.6,ENST00000403491.7,ENST00000371191.5,ENST00000371189.8,ENST00000371187.7,ENST00000371185.6,ENST00000407417.7,ENST00000485903.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41289414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00159744;esp6500siv2_all=0.0032;ExAC_ALL=0.0047;ExAC_AFR=0.0008;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0331;ExAC_NFE=0.0048;ExAC_OTH=0.0132;ExAC_SAS=6.058e-05;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,35:81:99:912,0,1316 1 61742983 rs75139686 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=intronic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371185.6,ENST00000371187.7,ENST00000407417.7,ENST00000485903.6,ENST00000371184.6,ENST00000403491.7,ENST00000371191.5,ENST00000371189.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75139686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0229;1000g2015aug_afr=.;1000g2015aug_amr=0.0231;1000g2015aug_all=0.00858626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 61807012 rs9436634 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=intronic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371187.7,ENST00000371185.6,ENST00000407417.7,ENST00000485903.6,ENST00000371191.5,ENST00000371184.6,ENST00000403491.7,ENST00000371189.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2512\x3bName\x3e"140188:AluYc(SINE)";avsnp150=rs9436634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.9424;1000g2015aug_all=0.890176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 61818422 rs7528918 A G 278.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.05;QD=25.91;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=intronic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371189.8,ENST00000371184.6,ENST00000403491.7,ENST00000371191.5,ENST00000485903.6,ENST00000371187.7,ENST00000371185.6,ENST00000407417.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.9035;1000g2015aug_all=0.884984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:307,21,0 1 61872541 rs10889221 G A 919.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.129;DP=52;ExcessHet=3.0103;FS=1.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.065;SOR=1.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=intronic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371189.8,ENST00000403491.7,ENST00000371184.6,ENST00000371191.5,ENST00000357977.5,ENST00000485903.6,ENST00000371187.7,ENST00000371185.6,ENST00000407417.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.2579;1000g2015aug_all=0.234225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,30:52:99:948,0,660 1 61892329 rs186073100 T A 668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.953;DP=42;ExcessHet=3.0103;FS=1.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.011;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFIA;Func=intronic;Gene=NM_001134673,NM_001145511,NM_001145512,NM_005595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000485903.6,ENST00000357977.5,ENST00000407417.7,ENST00000371185.6,ENST00000371187.7,ENST00000371189.8,ENST00000371191.5,ENST00000403491.7,ENST00000371184.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs186073100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,23:42:99:697,0,487 1 61966231 rs7513175 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145511,NR_073400;GeneDetail=dist\x3e37771\x3bdist\x3e153683;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.9337;1000g2015aug_all=0.92472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 61966282 rs7535564 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145511,NR_073400;GeneDetail=dist\x3e37822\x3bdist\x3e153632;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.9337;1000g2015aug_all=0.92472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 62120303 rs7554821 G A 270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.169;DP=28;ExcessHet=3.0103;FS=3.637;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.264;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGC34796;Func=ncRNA_exonic;Gene=NR_073400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.2363;1000g2015aug_all=0.313898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,10:28:99:299,0,599 1 62120415 rs7532243 A C 534.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.084;DP=48;ExcessHet=3.0103;FS=2.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.26;SOR=1.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGC34796;Func=ncRNA_exonic;Gene=NR_073400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.2378;1000g2015aug_all=0.321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,21:48:99:563,0,764 1 62120581 rs7532358 A G 325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.62;DP=29;ExcessHet=3.0103;FS=1.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.603;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGC34796;Func=ncRNA_exonic;Gene=NR_073400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.255;1000g2015aug_all=0.366414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:354,0,481 1 62160542 rs1151765 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTM2D1;Func=intronic;Gene=NM_032027;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371180.6,ENST00000294613.9,ENST00000606498.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1151765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.9755;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9236;1000g2015aug_all=0.928315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 62232031 rs1286835 C T 2164.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1286835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.9654;1000g2015aug_all=0.910144;esp6500siv2_all=0.9036;ExAC_ALL=0.9636;ExAC_AFR=0.7373;ExAC_AMR=0.9826;ExAC_EAS=0.9998;ExAC_FIN=0.9852;ExAC_NFE=0.9819;ExAC_OTH=0.9725;ExAC_SAS=0.9906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2193,218,0 1 62232130 rs11207827 T C 877.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.726;DP=60;ExcessHet=3.0103;FS=2.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-1.837;SOR=0.349;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon4:c.T369C:p.I123I,PATJ:NM_176877:exon4:c.T369C:p.I123I;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6,ENST00000316485.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.1744;1000g2015aug_all=0.25639;esp6500siv2_all=0.2704;ExAC_ALL=0.2442;ExAC_AFR=0.3096;ExAC_AMR=0.1580;ExAC_EAS=0.4344;ExAC_FIN=0.2788;ExAC_NFE=0.2401;ExAC_OTH=0.2378;ExAC_SAS=0.1661;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,35:60:99:906,0,689 1 62330080 rs2799627 T G 3185.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.02;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6,ENST00000316485.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.966;1000g2015aug_amr=0.9986;1000g2015aug_all=0.990815;esp6500siv2_all=0.9875;ExAC_ALL=0.9968;ExAC_AFR=0.9643;ExAC_AMR=0.9992;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.595;MutationAssessor_pred=N;FATHMM_score=2.95;FATHMM_pred=T;phyloP100way_vertebrate=5.238;phyloP20way_mammalian=0.073;SiPhy_29way_logOdds=10.670;gerp++gt2=4.57;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:3214,267,0 1 62365217 rs1412622 C T 548.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.417;DP=46;ExcessHet=3.0103;FS=1.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.77;SOR=0.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000316485.10,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1412622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.6499;1000g2015aug_all=0.558307;esp6500siv2_all=0.6224;ExAC_ALL=0.6337;ExAC_AFR=0.4971;ExAC_AMR=0.6456;ExAC_EAS=0.4123;ExAC_FIN=0.5838;ExAC_NFE=0.6858;ExAC_OTH=0.59;ExAC_SAS=0.6380;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,22:46:99:577,0,611 1 62366878 rs2499002 T G 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.46;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000316485.10,ENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2499002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.7012;1000g2015aug_amr=0.7277;1000g2015aug_all=0.804912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 62374267 rs2151122 T C 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.63;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000316485.10,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2151122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.7622;1000g2015aug_all=0.883387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 62378366 rs71494225 A G 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000316485.10,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e34\x3bName\x3e"141465:G-rich(Low_complexity)";avsnp150=rs71494225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 62380124 rs4915789 A G 412.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000316485.10,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2326\x3bName\x3e"141468:AluSq2(SINE)";avsnp150=rs4915789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.6686;1000g2015aug_all=0.682308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:441,39,0 1 62380223 rs11585422 G T 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.597;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=2.871;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.1431;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.798;1000g2015aug_amr=0.3228;1000g2015aug_all=0.360423;esp6500siv2_all=0.4053;ExAC_ALL=0.2882;ExAC_AFR=0.7385;ExAC_AMR=0.3081;ExAC_EAS=0.1608;ExAC_FIN=0.2694;ExAC_NFE=0.2564;ExAC_OTH=0.2648;ExAC_SAS=0.1761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:417,0,395 1 62380270 rs1134766 C T 333.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.076;DP=43;ExcessHet=3.0103;FS=1.232;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=0.472;SOR=0.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1134766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.888;1000g2015aug_amr=0.8357;1000g2015aug_all=0.776957;esp6500siv2_all=0.7922;ExAC_ALL=0.7480;ExAC_AFR=0.8884;ExAC_AMR=0.8189;ExAC_EAS=0.7420;ExAC_FIN=0.7528;ExAC_NFE=0.7320;ExAC_OTH=0.7114;ExAC_SAS=0.6778;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,17:43:99:362,0,619 1 62380298 rs1056513 G A 267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.283;DP=39;ExcessHet=3.0103;FS=1.309;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.892;SOR=0.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PATJ:NM_001350145:exon26:c.G3532A:p.G1178S,PATJ:NM_176877:exon26:c.G3532A:p.G1178S;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.5231;1000g2015aug_all=0.445088;esp6500siv2_all=0.4852;ExAC_ALL=0.5643;ExAC_AFR=0.1496;ExAC_AMR=0.4870;ExAC_EAS=0.5659;ExAC_FIN=0.6233;ExAC_NFE=0.6362;ExAC_OTH=0.5852;ExAC_SAS=0.5619;SIFT_score=0.757;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.073;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.155;MutationAssessor_pred=N;FATHMM_score=2.73;FATHMM_pred=T;phyloP100way_vertebrate=0.402;phyloP20way_mammalian=-0.956;SiPhy_29way_logOdds=6.022;gerp++gt2=2.27;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,15:39:99:296,0,560 1 62393394 rs2251182 A G 2640.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000316485.10,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.8707;1000g2015aug_amr=0.9193;1000g2015aug_all=0.846645;esp6500siv2_all=0.8689;ExAC_ALL=0.8561;ExAC_AFR=0.8755;ExAC_AMR=0.8931;ExAC_EAS=0.8328;ExAC_FIN=0.8344;ExAC_NFE=0.8558;ExAC_OTH=0.8595;ExAC_SAS=0.8400;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2669,261,0 1 62456014 rs1134767 G A 6782.77 PASS AC=2;AF=1;AN=2;DP=228;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=0.917;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PATJ:NM_001350145:exon28:c.G3845A:p.R1282H,PATJ:NM_176877:exon28:c.G3845A:p.R1282H;Gencode=Name\x3eENST00000316485.10,ENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1134767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.553;1000g2015aug_amr=0.3199;1000g2015aug_all=0.47484;esp6500siv2_all=0.4453;ExAC_ALL=0.4237;ExAC_AFR=0.5150;ExAC_AMR=0.2655;ExAC_EAS=0.4609;ExAC_FIN=0.3069;ExAC_NFE=0.4229;ExAC_OTH=0.4279;ExAC_SAS=0.5072;SIFT_score=0.333;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.026;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=1.7;FATHMM_pred=T;phyloP100way_vertebrate=-0.164;phyloP20way_mammalian=-1.558;SiPhy_29way_logOdds=7.239;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,225:225:99:6811,674,0 1 62483599 rs34726576 G A 1184.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon29:c.G3939A:p.K1313K,PATJ:NM_176877:exon29:c.G3939A:p.K1313K;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6,ENST00000316485.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34726576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.137;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.147;1000g2015aug_all=0.107228;esp6500siv2_all=0.1928;ExAC_ALL=0.1872;ExAC_AFR=0.0663;ExAC_AMR=0.1158;ExAC_EAS=0.0003;ExAC_FIN=0.1541;ExAC_NFE=0.2529;ExAC_OTH=0.2258;ExAC_SAS=0.1569;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1213,121,0 1 62483623 rs41313250 A G 1251.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6,ENST00000316485.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41313250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0523163;esp6500siv2_all=0.0890;ExAC_ALL=0.0936;ExAC_AFR=0.0186;ExAC_AMR=0.0595;ExAC_EAS=0.0001;ExAC_FIN=0.0749;ExAC_NFE=0.1204;ExAC_OTH=0.1291;ExAC_SAS=0.1111;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1280,114,0 1 62504715 rs6661849 G C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000316485.10,ENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.1599;1000g2015aug_all=0.13778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 62516683 rs2498982 G C 3830.77 PASS AC=2;AF=1;AN=2;DP=125;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.039;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PATJ:NM_001350145:exon31:c.G4078C:p.V1360L,PATJ:NM_176877:exon31:c.G4078C:p.V1360L;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2498982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.767;1000g2015aug_amr=0.5591;1000g2015aug_all=0.570887;esp6500siv2_all=0.6070;ExAC_ALL=0.5562;ExAC_AFR=0.7211;ExAC_AMR=0.5275;ExAC_EAS=0.2747;ExAC_FIN=0.4745;ExAC_NFE=0.5598;ExAC_OTH=0.5947;ExAC_SAS=0.6343;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.997;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=2.65;FATHMM_pred=T;phyloP100way_vertebrate=-0.277;phyloP20way_mammalian=-0.510;SiPhy_29way_logOdds=6.675;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,125:125:99:3859,375,0 1 62545085 rs17379217 C T 672.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.99;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17379217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.12;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.2277;1000g2015aug_all=0.197284;esp6500siv2_all=0.2799;ExAC_ALL=0.3093;ExAC_AFR=0.1043;ExAC_AMR=0.2018;ExAC_EAS=0.1274;ExAC_FIN=0.3267;ExAC_NFE=0.3973;ExAC_OTH=0.3520;ExAC_SAS=0.2404;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:701,57,0 1 62577893 rs9436218 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e221\x3bName\x3e"141933:MIR3(SINE)";avsnp150=rs9436218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.995;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 62579523 rs1475565 C T 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6,ENST00000316485.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.7161;1000g2015aug_all=0.608427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 62579672 rs1475564 A C 2469.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=3.393;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000316485.10,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.7853;1000g2015aug_all=0.803315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2498,203,0 1 62579823 rs1475563 G A 6311.77 PASS AC=2;AF=1;AN=2;DP=200;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E;Gencode=Name\x3eENST00000316485.10,ENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.7161;1000g2015aug_all=0.609026;esp6500siv2_all=0.6204;ExAC_ALL=0.6621;ExAC_AFR=0.4582;ExAC_AMR=0.7664;ExAC_EAS=0.7816;ExAC_FIN=0.5669;ExAC_NFE=0.6837;ExAC_OTH=0.6578;ExAC_SAS=0.6058;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,200:200:99:6340,599,0 1 62593893 rs2481664 T C 830.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.39;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2481664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.4899;1000g2015aug_all=0.340855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:859,63,0 1 62594593 rs2476194 C T 4891.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=0.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=exonic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PATJ:NM_001350145:exon41:c.C5247T:p.N1749N,PATJ:NM_176877:exon41:c.C5247T:p.N1749N;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2476194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.4741;1000g2015aug_all=0.330871;esp6500siv2_all=0.4261;ExAC_ALL=0.4741;ExAC_AFR=0.1679;ExAC_AMR=0.4818;ExAC_EAS=0.0712;ExAC_FIN=0.4456;ExAC_NFE=0.5509;ExAC_OTH=0.5322;ExAC_SAS=0.5584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:4920,438,0 1 62594677 rs2481665 T C 4530.77 PASS AC=2;AF=1;AN=2;DP=134;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.196;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371158.6,ENST00000613764.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2481665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBody_mass_index;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.2363;1000g2015aug_all=0.186502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,134:134:99:4559,402,0 1 62604863 rs2017593 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINADL;Func=intronic;Gene=NM_001350145,NM_176877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613764.4,ENST00000371158.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2495\x3bName\x3e"141995:AluSg7(SINE)";avsnp150=rs2017593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.9811;1000g2015aug_afr=1;1000g2015aug_amr=0.9885;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 62644084 rs564848651 A G 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.463;DP=14;ExcessHet=3.0103;FS=5.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=2.697;SOR=2.546;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350145,NM_001164835;GeneDetail=dist\x3e14493\x3bdist\x3e16390;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e274\x3bName\x3e"142093:L2c(LINE)";avsnp150=rs564848651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:150,0,232 1 62661792 rs6656763 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=intronic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.7968;1000g2015aug_all=0.705671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 62672546 rs2457829 G A 814.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=L1TD1:NM_019079:exon3:c.G246A:p.G82G,L1TD1:NM_001164835:exon4:c.G246A:p.G82G;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"142191:L1MEd(LINE)";avsnp150=rs2457829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.841;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9352;1000g2015aug_all=0.880791;esp6500siv2_all=0.8841;ExAC_ALL=0.8595;ExAC_AFR=0.9698;ExAC_AMR=0.9368;ExAC_EAS=0.8355;ExAC_FIN=0.8394;ExAC_NFE=0.8486;ExAC_OTH=0.8847;ExAC_SAS=0.8014;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:843,63,0 1 62673037 rs7542665 T C 1797.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=L1TD1:NM_019079:exon3:c.T737C:p.V246A,L1TD1:NM_001164835:exon4:c.T737C:p.V246A;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1401\x3bName\x3e"142192:L1MEd(LINE)";avsnp150=rs7542665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3234;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.675;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.647;1000g2015aug_all=0.576278;esp6500siv2_all=0.7023;ExAC_ALL=0.6240;ExAC_AFR=0.6790;ExAC_AMR=0.5755;ExAC_EAS=0.3616;ExAC_FIN=0.6765;ExAC_NFE=0.6720;ExAC_OTH=0.6649;ExAC_SAS=0.5741;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.155;MutationAssessor_pred=N;FATHMM_score=2.63;FATHMM_pred=T;phyloP100way_vertebrate=0.116;phyloP20way_mammalian=0.030;SiPhy_29way_logOdds=5.233;gerp++gt2=2.35;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1826,168,0 1 62673225 rs7533274 G A 928.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=L1TD1:NM_019079:exon3:c.G925A:p.V309M,L1TD1:NM_001164835:exon4:c.G925A:p.V309M;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1401\x3bName\x3e"142192:L1MEd(LINE)";avsnp150=rs7533274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.6491;1000g2015aug_afr=0.5961;1000g2015aug_amr=0.6239;1000g2015aug_all=0.53774;esp6500siv2_all=0.6450;ExAC_ALL=0.5802;ExAC_AFR=0.6011;ExAC_AMR=0.5525;ExAC_EAS=0.3605;ExAC_FIN=0.7188;ExAC_NFE=0.6404;ExAC_OTH=0.6212;ExAC_SAS=0.5257;SIFT_score=0.673;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.06;MutationAssessor_pred=N;FATHMM_score=2.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.069;phyloP20way_mammalian=-0.288;SiPhy_29way_logOdds=2.832;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:957,81,0 1 62675261 rs2481695 G A 129.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.98;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=intronic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2481695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.228;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.3084;1000g2015aug_all=0.245607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:158,15,0 1 62675619 rs4625314 C T 878.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.911256\x3bName\x3echr13:102016605;Repeat=.;avsnp150=rs4625314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.492;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.3473;1000g2015aug_all=0.298522;esp6500siv2_all=0.4529;ExAC_ALL=0.4167;ExAC_AFR=0.3294;ExAC_AMR=0.2922;ExAC_EAS=0.1077;ExAC_FIN=0.4415;ExAC_NFE=0.5137;ExAC_OTH=0.4381;ExAC_SAS=0.3173;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:907,81,0 1 62675892 rs2481694 A G 1739.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=L1TD1:NM_019079:exon4:c.A1446G:p.E482E,L1TD1:NM_001164835:exon5:c.A1446G:p.E482E;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.911256\x3bName\x3echr13:102016605;Repeat=.;avsnp150=rs2481694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.251;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.6254;1000g2015aug_all=0.507588;esp6500siv2_all=0.6164;ExAC_ALL=0.6062;ExAC_AFR=0.5351;ExAC_AMR=0.6270;ExAC_EAS=0.2400;ExAC_FIN=0.6563;ExAC_NFE=0.6712;ExAC_OTH=0.6344;ExAC_SAS=0.5422;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1768,168,0 1 62676284 rs2886644 C T 965.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=exonic;Gene=NM_001164835,NM_019079;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=L1TD1:NM_019079:exon4:c.C1838T:p.T613I,L1TD1:NM_001164835:exon5:c.C1838T:p.T613I;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.911256\x3bName\x3echr13:102016605;Repeat=Score\x3e2187\x3bName\x3e"142197:HAL1ME(LINE)";avsnp150=rs2886644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1861;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.1744;1000g2015aug_all=0.153954;esp6500siv2_all=0.2319;ExAC_ALL=0.2612;ExAC_AFR=0.1887;ExAC_AMR=0.1744;ExAC_EAS=0.0454;ExAC_FIN=0.2060;ExAC_NFE=0.3195;ExAC_OTH=0.2833;ExAC_SAS=0.2289;SIFT_score=0.083;SIFT_pred=T;Polyphen2_HDIV_score=0.136;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.174;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=2.45;FATHMM_pred=T;phyloP100way_vertebrate=0.400;phyloP20way_mammalian=0.059;SiPhy_29way_logOdds=6.407;gerp++gt2=2.18;CADD=2.701;CADD_Phred=20.8;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:994,87,0 1 62677048 rs1056517 G T 535.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eL1TD1;Func=UTR3;Gene=NM_001164835,NM_019079;GeneDetail=NM_001164835:c.*4G>T\x3bNM_019079:c.*4G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000498273.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.911256\x3bName\x3echr13:102016605;Repeat=.;avsnp150=rs1056517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.4986;1000g2015aug_all=0.328275;esp6500siv2_all=0.4630;ExAC_ALL=0.4760;ExAC_AFR=0.3214;ExAC_AMR=0.5099;ExAC_EAS=0.1057;ExAC_FIN=0.5419;ExAC_NFE=0.5630;ExAC_OTH=0.5060;ExAC_SAS=0.3273;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:564,48,0 1 62713224 rs2941679 C G 2711.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L;Gencode=Name\x3eENST00000371150.5,ENST00000317477.8,ENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2941679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9744;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9914;1000g2015aug_all=0.986222;esp6500siv2_all=0.9708;ExAC_ALL=0.9744;ExAC_AFR=0.9931;ExAC_AMR=0.9882;ExAC_EAS=0.9998;ExAC_FIN=0.9856;ExAC_NFE=0.9649;ExAC_OTH=0.9812;ExAC_SAS=0.9732;SIFT_score=0.185;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.163;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=0.08;FATHMM_pred=T;phyloP100way_vertebrate=0.787;phyloP20way_mammalian=0.133;SiPhy_29way_logOdds=9.007;gerp++gt2=2.62;CADD=1.806;CADD_Phred=15.02;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2740,258,0 1 62728596 rs2765247 T C 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=-0.738;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317477.8,ENST00000371150.5,ENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2302\x3bName\x3e"142337:L1PB3(LINE)";avsnp150=rs2765247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.7896;1000g2015aug_all=0.716054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:298,0,131 1 62728784 rs2666472 A G 1187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.326;DP=85;ExcessHet=3.0103;FS=0.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.387;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3,ENST00000371150.5,ENST00000317477.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2666472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.7882;1000g2015aug_all=0.715855;esp6500siv2_all=0.6743;ExAC_ALL=0.7444;ExAC_AFR=0.5590;ExAC_AMR=0.8652;ExAC_EAS=0.8406;ExAC_FIN=0.8490;ExAC_NFE=0.7393;ExAC_OTH=0.7336;ExAC_SAS=0.7058;SIFT_score=0.369;SIFT_pred=T;Polyphen2_HDIV_score=0.068;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_pred=N;MutationTaster_score=0.663;MutationTaster_pred=P;MutationAssessor_score=1.565;MutationAssessor_pred=L;FATHMM_score=-0.44;FATHMM_pred=T;phyloP100way_vertebrate=2.839;phyloP20way_mammalian=-1.159;SiPhy_29way_logOdds=12.662;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,42:85:99:1216,0,1153 1 62728838 rs2258470 T C 1856.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.1;DP=99;ExcessHet=3.0103;FS=2.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=0.186;SOR=1.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R;Gencode=Name\x3eENST00000371150.5,ENST00000317477.8,ENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2258470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8442;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.7896;1000g2015aug_all=0.716254;esp6500siv2_all=0.6746;ExAC_ALL=0.7426;ExAC_AFR=0.5557;ExAC_AMR=0.8631;ExAC_EAS=0.8400;ExAC_FIN=0.8483;ExAC_NFE=0.7377;ExAC_OTH=0.7322;ExAC_SAS=0.7031;SIFT_score=0.464;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.278;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.355;MutationAssessor_pred=N;FATHMM_score=-0.08;FATHMM_pred=T;phyloP100way_vertebrate=2.747;phyloP20way_mammalian=0.066;SiPhy_29way_logOdds=10.110;gerp++gt2=3.02;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,50:99:99:1885,0,1815 1 62728861 rs2260581 T C 1819.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.657;DP=102;ExcessHet=3.0103;FS=2.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.238;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K;Gencode=Name\x3eENST00000354381.3,ENST00000317477.8,ENST00000371150.5,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2260581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.7896;1000g2015aug_all=0.716254;esp6500siv2_all=0.6745;ExAC_ALL=0.7426;ExAC_AFR=0.5554;ExAC_AMR=0.8632;ExAC_EAS=0.8404;ExAC_FIN=0.8482;ExAC_NFE=0.7380;ExAC_OTH=0.7334;ExAC_SAS=0.7021;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,50:102:99:1848,0,1994 1 62728918 rs2262110 G A 1283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.18;DP=106;ExcessHet=3.0103;FS=0.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.837;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P;Gencode=Name\x3eENST00000371150.5,ENST00000317477.8,ENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2262110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.7896;1000g2015aug_all=0.716054;esp6500siv2_all=0.6745;ExAC_ALL=0.7437;ExAC_AFR=0.5579;ExAC_AMR=0.8642;ExAC_EAS=0.8428;ExAC_FIN=0.8492;ExAC_NFE=0.7389;ExAC_OTH=0.7378;ExAC_SAS=0.7018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,49:106:99:1312,0,1468 1 62729015 rs2262106 G A 729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.202;DP=55;ExcessHet=3.0103;FS=2.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.16;SOR=0.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3,ENST00000371150.5,ENST00000317477.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2262106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.5242;1000g2015aug_amr=0.7882;1000g2015aug_all=0.709465;esp6500siv2_all=0.6667;ExAC_ALL=0.7535;ExAC_AFR=0.5568;ExAC_AMR=0.8693;ExAC_EAS=0.85;ExAC_FIN=0.8544;ExAC_NFE=0.7537;ExAC_OTH=0.7523;ExAC_SAS=0.7094;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,27:55:99:758,0,867 1 62732421 rs11207949 T C 602.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.684;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.458;SOR=0.698;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KANK4:NM_001320269:exon5:c.A418G:p.T140A,KANK4:NM_181712:exon6:c.A2302G:p.T768A;Gencode=Name\x3eENST00000371153.8,ENST00000371150.5,ENST00000354381.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11207949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.3977;1000g2015aug_all=0.305511;esp6500siv2_all=0.2374;ExAC_ALL=0.2850;ExAC_AFR=0.2204;ExAC_AMR=0.5009;ExAC_EAS=0.5904;ExAC_FIN=0.3556;ExAC_NFE=0.2458;ExAC_OTH=0.2892;ExAC_SAS=0.1437;SIFT_score=0.542;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.032;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=0.9;FATHMM_pred=T;phyloP100way_vertebrate=2.369;phyloP20way_mammalian=0.913;SiPhy_29way_logOdds=12.177;gerp++gt2=3.57;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,27:52:99:631,0,604 1 62737125 rs77901899 T C 887.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.562;DP=51;ExcessHet=3.0103;FS=1.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=-0.048;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354381.3,ENST00000371150.5,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77901899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.0521;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0632987;esp6500siv2_all=0.0711;ExAC_ALL=0.0797;ExAC_AFR=0.0189;ExAC_AMR=0.0319;ExAC_EAS=0.1259;ExAC_FIN=0.1038;ExAC_NFE=0.0940;ExAC_OTH=0.0925;ExAC_SAS=0.0594;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,31:51:99:916,0,546 1 62738904 rs7516290 T C 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.518;DP=26;ExcessHet=3.0103;FS=1.54;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.39;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_181712;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KANK4:NM_181712:exon3:c.A1872G:p.P624P;Gencode=Name\x3eENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.7911;1000g2015aug_all=0.800519;esp6500siv2_all=0.7346;ExAC_ALL=0.7470;ExAC_AFR=0.8585;ExAC_AMR=0.8482;ExAC_EAS=0.8452;ExAC_FIN=0.8083;ExAC_NFE=0.6919;ExAC_OTH=0.7277;ExAC_SAS=0.7515;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:370,0,287 1 62740446 rs2666506 T C 1541.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.692;DP=90;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.687;SOR=0.474;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_181712;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KANK4:NM_181712:exon3:c.A330G:p.P110P;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2666506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.7911;1000g2015aug_all=0.804513;esp6500siv2_all=0.7353;ExAC_ALL=0.7448;ExAC_AFR=0.8589;ExAC_AMR=0.8464;ExAC_EAS=0.8634;ExAC_FIN=0.8071;ExAC_NFE=0.6890;ExAC_OTH=0.7280;ExAC_SAS=0.7427;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,40:90:99:1570,0,3109 1 62740449 rs2666507 T C 1538.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.604;DP=94;ExcessHet=3.0103;FS=2.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.833;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=exonic;Gene=NM_181712;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KANK4:NM_181712:exon3:c.A327G:p.S109S;Gencode=Name\x3eENST00000354381.3,ENST00000371153.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2666507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.798;1000g2015aug_amr=0.7795;1000g2015aug_all=0.78095;esp6500siv2_all=0.7071;ExAC_ALL=0.7374;ExAC_AFR=0.7772;ExAC_AMR=0.8431;ExAC_EAS=0.8635;ExAC_FIN=0.8068;ExAC_NFE=0.6888;ExAC_OTH=0.7236;ExAC_SAS=0.7424;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,42:94:99:1567,0,3131 1 62759076 rs1925827 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.7723;1000g2015aug_all=0.791334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 62764907 rs1886833 A T 45.14 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.05;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1622\x3bName\x3e"142413:AluJb(SINE)";avsnp150=rs1886833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.636;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.7349;1000g2015aug_all=0.721046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:81,9,0 1 62776296 rs34796779 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKANK4;Func=intronic;Gene=NM_001320269,NM_181712;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371153.8,ENST00000354381.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34796779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.2495;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.1945;1000g2015aug_all=0.153554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 62803731 rs17315037 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320269,NM_001017415;GeneDetail=dist\x3e18646\x3bdist\x3e98244;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e468\x3bName\x3e"142523:MLT1M(LTR)";avsnp150=rs17315037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.8905;1000g2015aug_all=0.873003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 62825996 rs28761298 A G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320269,NM_001017415;GeneDetail=dist\x3e40911\x3bdist\x3e75979;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2564\x3bName\x3e"142589:AluY(SINE)";avsnp150=rs28761298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.4107;1000g2015aug_all=0.423323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,87 1 62826000 rs28788538 T G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320269,NM_001017415;GeneDetail=dist\x3e40915\x3bdist\x3e75975;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2564\x3bName\x3e"142589:AluY(SINE)";avsnp150=rs28788538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.4107;1000g2015aug_all=0.423922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,87 1 62939634 rs1168007 C T 776.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.987;1000g2015aug_all=0.963059;esp6500siv2_all=0.9612;ExAC_ALL=0.9892;ExAC_AFR=0.8799;ExAC_AMR=0.9946;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:80:805,80,0 1 62943264 rs1168008 C T 745.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e250\x3bName\x3e"142877:MER135(DNA)";avsnp150=rs1168008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:774,72,0 1 62945418 rs1183260 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1936\x3bName\x3e"142881:AluJb(SINE)";avsnp150=rs1183260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.6066;1000g2015aug_all=0.564497;esp6500siv2_all=.;ExAC_ALL=0.5827;ExAC_AFR=0.3837;ExAC_AMR=0.5781;ExAC_EAS=0.7073;ExAC_FIN=.;ExAC_NFE=0.7138;ExAC_OTH=0.6404;ExAC_SAS=0.5336;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 62953183 rs1168025 C T 370.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9818;1000g2015aug_amr=1;1000g2015aug_all=0.995208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:399,36,0 1 62958197 rs55744543 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2025\x3bName\x3e"142909:AluJr(SINE)";avsnp150=rs55744543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0086;1000g2015aug_all=0.013778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 62958658 rs1183851 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1183851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.379;1000g2015aug_all=0.390974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 62960250 rs1168041 T C 198.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.6297;1000g2015aug_all=0.617412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:227,18,0 1 62961928 rs1168038 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9289;1000g2015aug_amr=0.9942;1000g2015aug_all=0.980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 62970184 rs1168027 T C 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.611;1000g2015aug_all=0.567891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 62973795 rs1184865 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1184865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.6081;1000g2015aug_all=0.560104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 62976472 rs1168043 T G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9942;1000g2015aug_all=0.983626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 62993620 rs12403207 T C 46.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.611;1000g2015aug_all=0.564497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:74,6,0 1 62996633 rs1168014 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.9899;1000g2015aug_all=0.976038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 63001120 rs1168018 A C 2197.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.3487;1000g2015aug_amr=0.6124;1000g2015aug_all=0.57508;esp6500siv2_all=0.5705;ExAC_ALL=0.6352;ExAC_AFR=0.3752;ExAC_AMR=0.5768;ExAC_EAS=0.7541;ExAC_FIN=0.7436;ExAC_NFE=0.6803;ExAC_OTH=0.6829;ExAC_SAS=0.5408;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2226,204,0 1 63010871 rs12074528 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614472.4,ENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12074528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.6124;1000g2015aug_all=0.568091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 63113511 rs746735 C A 252.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.28;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001272002,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000404627.2,ENST00000251157.9,ENST00000614472.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs746735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.3472;1000g2015aug_amr=0.6124;1000g2015aug_all=0.574681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:281,30,0 1 63113689 rs1168088 T C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001272002,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251157.9,ENST00000614472.4,ENST00000404627.2,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.938;1000g2015aug_amr=0.9942;1000g2015aug_all=0.982827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 63113719 rs1168089 T C 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001272002,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404627.2,ENST00000251157.9,ENST00000614472.4,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1168089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.6124;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 63135840 rs1168129 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001272002,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340370.9,ENST00000404627.2,ENST00000251157.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11757\x3bName\x3e"143232:LTR12C(LTR)";avsnp150=rs1168129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.938;1000g2015aug_amr=0.9942;1000g2015aug_all=0.982827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63135846 rs1168128 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDOCK7;Func=intronic;Gene=NM_001271999,NM_001272000,NM_001272001,NM_001272002,NM_001330614,NM_033407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404627.2,ENST00000251157.9,ENST00000340370.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11757\x3bName\x3e"143232:LTR12C(LTR)";avsnp150=rs1168128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.611;1000g2015aug_all=0.564297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63284830 rs17123872 G A 556.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.918;DP=40;ExcessHet=3.0103;FS=1.317;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-2.163;SOR=0.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATG4C;Func=exonic;Gene=NM_032852,NM_178221;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATG4C:NM_032852:exon5:c.G549A:p.G183G,ATG4C:NM_178221:exon5:c.G549A:p.G183G;Gencode=Name\x3eENST00000317868.8,ENST00000371120.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17123872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.003;1000g2015aug_amr=0.1225;1000g2015aug_all=0.0265575;esp6500siv2_all=0.0303;ExAC_ALL=0.0425;ExAC_AFR=0.0080;ExAC_AMR=0.1824;ExAC_EAS=0.0001;ExAC_FIN=0.0189;ExAC_NFE=0.0378;ExAC_OTH=0.0299;ExAC_SAS=0.0182;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,18:40:99:585,0,690 1 63306960 rs12743698 C T 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=-0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATG4C;Func=intronic;Gene=NM_032852,NM_178221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317868.8,ENST00000371120.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12743698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.4971;1000g2015aug_all=0.488219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:64:64,0,149 1 63307303 rs3737892 A G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.655;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATG4C;Func=intronic;Gene=NM_032852,NM_178221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000317868.8,ENST00000371120.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.4986;1000g2015aug_all=0.490815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 63413567 rs4523541 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_178221,NR_146607;GeneDetail=dist\x3e82625\x3bdist\x3e52601;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2422\x3bName\x3e"143835:AluSp(SINE)";avsnp150=rs4523541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.4909;1000g2015aug_amr=0.3919;1000g2015aug_all=0.392572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63413576 rs12091869 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_178221,NR_146607;GeneDetail=dist\x3e82634\x3bdist\x3e52592;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2422\x3bName\x3e"143835:AluSp(SINE)";avsnp150=rs12091869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.4909;1000g2015aug_amr=0.3919;1000g2015aug_all=0.392772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63419757 rs17389226 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_178221,NR_146607;GeneDetail=dist\x3e88815\x3bdist\x3e46411;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e556\x3bName\x3e"143846:L4_A_Mam(LINE)";avsnp150=rs17389226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0398;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0115815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 63483033 rs61766129 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e4891\x3bdist\x3e141721;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1355\x3bName\x3e"143964:MER30(DNA)";avsnp150=rs61766129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63483035 rs61766130 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e4893\x3bdist\x3e141719;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1355\x3bName\x3e"143964:MER30(DNA)";avsnp150=rs61766130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63492959 rs944188 C A 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e14817\x3bdist\x3e131795;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e517\x3bName\x3e"143986:MIR(SINE)";avsnp150=rs944188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3562;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.6816;1000g2015aug_all=0.564297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 63493164 rs2367042 T G 161.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e15022\x3bdist\x3e131590;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2990\x3bName\x3e"143988:MLT2A2(LTR)";avsnp150=rs2367042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3562;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.5915;1000g2015aug_amr=0.6816;1000g2015aug_all=0.564497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:190,21,0 1 63536838 rs12036206 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e58696\x3bdist\x3e87916;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12036206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.328;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.4135;1000g2015aug_all=0.296725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 63540281 rs72674214 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146606,NR_038252;GeneDetail=dist\x3e62139\x3bdist\x3e84473;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72674214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0934505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 63625055 rs938204895 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00466;Func=ncRNA_intronic;Gene=NR_038252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447183.2,ENST00000455038.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs938204895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63625064 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00466;Func=ncRNA_intronic;Gene=NR_038252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455038.1,ENST00000447183.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 63728159 rs2985541 A G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.431;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00466;Func=ncRNA_intronic;Gene=NR_038252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455304.6,ENST00000436475.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2985541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.615;1000g2015aug_amr=0.281;1000g2015aug_all=0.434904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 63788302 rs78645479 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFOXD3-AS1;Func=ncRNA_intronic;Gene=NR_121636,NR_121637;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78645479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 63836513 rs34542411 C G 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.327;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.871;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALG6;Func=UTR5;Gene=NM_013339;GeneDetail=NM_013339:c.-136C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371108.8,ENST00000263440.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34542411;cosmic70=.;CLNALLELEID=281596;CLNDN=Congenital_disorder_of_glycosylation;CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.1859;1000g2015aug_all=0.205272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:206,0,285 1 63871758 rs2273122 T C 278.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=1.593;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALG6;Func=intronic;Gene=NM_013339;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371108.8,ENST00000263440.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.2156;1000g2015aug_amr=0.1657;1000g2015aug_all=0.181709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:15:307,0,15 1 63872032 rs35383149 T C 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.537;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-1.334;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALG6;Func=exonic;Gene=NM_013339;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ALG6:NM_013339:exon6:c.T391C:p.Y131H;Gencode=Name\x3eENST00000371108.8,ENST00000263440.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35383149;cosmic70=.;CLNALLELEID=39379;CLNDN=Congenital_disorder_of_glycosylation_type_1C|not_specified;CLNDISDB=MedGen:C2930997,OMIM:603147,Orphanet:ORPHA79320|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0133786;esp6500siv2_all=0.0292;ExAC_ALL=0.0287;ExAC_AFR=0.0074;ExAC_AMR=0.0186;ExAC_EAS=0;ExAC_FIN=0.0431;ExAC_NFE=0.0397;ExAC_OTH=0.0309;ExAC_SAS=0.0137;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.072;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.195;MutationAssessor_pred=M;FATHMM_score=-1.99;FATHMM_pred=D;phyloP100way_vertebrate=3.965;phyloP20way_mammalian=0.993;SiPhy_29way_logOdds=11.883;gerp++gt2=4.75;CADD=2.281;CADD_Phred=18.04;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:322,0,577 1 63872871 rs6588028 A G 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.619;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALG6;Func=intronic;Gene=NM_013339;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263440.4,ENST00000371108.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.6628;1000g2015aug_all=0.669329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:192,0,59 1 63881552 rs4630153 C T 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.319;DP=18;ExcessHet=3.0103;FS=1.957;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.445;SOR=1.015;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALG6;Func=exonic;Gene=NM_013339;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ALG6:NM_013339:exon11:c.C911T:p.S304F;Gencode=Name\x3eENST00000371108.8,ENST00000263440.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4630153;cosmic70=.;CLNALLELEID=101430;CLNDN=Congenital_disorder_of_glycosylation|not_specified;CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.7608;1000g2015aug_all=0.830471;esp6500siv2_all=0.7370;ExAC_ALL=0.7514;ExAC_AFR=0.8629;ExAC_AMR=0.8338;ExAC_EAS=0.8596;ExAC_FIN=0.6712;ExAC_NFE=0.6875;ExAC_OTH=0.7472;ExAC_SAS=0.8565;SIFT_score=0.213;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.100;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-1.61;FATHMM_pred=D;phyloP100way_vertebrate=0.653;phyloP20way_mammalian=-0.251;SiPhy_29way_logOdds=6.859;gerp++gt2=3.91;CADD=1.629;CADD_Phred=14.01;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:178,0,286 1 63912546 rs12760364 G T 61.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.303;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.14;ReadPosRankSum=0.508;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=intronic;Gene=NM_001206739,NM_001347145,NM_001347148,NM_014288;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371092.7,ENST00000271002.14;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12760364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.1585;1000g2015aug_all=0.182109;esp6500siv2_all=0.1336;ExAC_ALL=0.1851;ExAC_AFR=0.2587;ExAC_AMR=0.1959;ExAC_EAS=0.1944;ExAC_FIN=0.1343;ExAC_NFE=0.1720;ExAC_OTH=0.1964;ExAC_SAS=0.1986;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:99,0,145 1 63920515 rs17319708 C G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.674;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=intronic;Gene=NM_001206739,NM_001347145,NM_001347147,NM_001347148,NM_014288;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271002.14,ENST00000371092.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17319708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.046;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1859;1000g2015aug_all=0.0872604;esp6500siv2_all=0.1658;ExAC_ALL=0.1766;ExAC_AFR=0.0399;ExAC_AMR=0.1326;ExAC_EAS=0.0211;ExAC_FIN=0.2572;ExAC_NFE=0.2470;ExAC_OTH=0.1869;ExAC_SAS=0.0883;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 63940912 rs6588033 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=intronic;Gene=NM_001206739,NM_001347145,NM_001347147,NM_001347148,NM_014288;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371092.7,ENST00000271002.14;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1671\x3bName\x3e"145028:AluJr(SINE)";avsnp150=rs6588033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 63955594 rs2271365 T C 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=intronic;Gene=NM_001206739,NM_001347145,NM_001347147,NM_001347148,NM_014288;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371092.7,ENST00000271002.14;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.3343;1000g2015aug_all=0.328275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:67:67,0,110 1 63988484 rs7413854 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=intronic;Gene=NM_001206739,NM_001347145,NM_001347147,NM_001347148,NM_014288;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371092.7,ENST00000271002.14;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7413854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.9928;1000g2015aug_all=0.958866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 63988904 rs17125090 G A 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-2.655;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITGB3BP;Func=UTR5;Gene=NM_001206739,NM_001347145,NM_001347147,NM_001347148,NM_014288;GeneDetail=NM_001206739:c.-100C>T\x3bNM_001347145:c.-100C>T\x3bNM_001347147:c.-100C>T\x3bNM_001347148:c.-33087C>T\x3bNM_014288:c.-100C>T;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17125090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.2363;1000g2015aug_all=0.166733;esp6500siv2_all=0.2608;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:138,0,182 1 63991140 rs9436686 T C 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9436686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.9841;1000g2015aug_all=0.9373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 63991490 rs35446626 G A 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35446626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.1628;1000g2015aug_all=0.139776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:67:67,0,71 1 63997633 rs9804078 A T 68.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.803;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.816;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=exonic;Gene=NM_032437;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EFCAB7:NM_032437:exon3:c.A330T:p.S110S;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9804078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.1715;1000g2015aug_all=0.196286;esp6500siv2_all=0.1786;ExAC_ALL=0.1726;ExAC_AFR=0.2343;ExAC_AMR=0.1877;ExAC_EAS=0.1847;ExAC_FIN=0.1329;ExAC_NFE=0.1611;ExAC_OTH=0.1908;ExAC_SAS=0.1788;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:97:97,0,143 1 63999826 rs6693255 C T 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.118;DP=50;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.138;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=exonic;Gene=NM_032437;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EFCAB7:NM_032437:exon6:c.C743T:p.T248I;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.1614;1000g2015aug_all=0.144968;esp6500siv2_all=0.1321;ExAC_ALL=0.1585;ExAC_AFR=0.0877;ExAC_AMR=0.1821;ExAC_EAS=0.1839;ExAC_FIN=0.1325;ExAC_NFE=0.1598;ExAC_OTH=0.1828;ExAC_SAS=0.1770;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.294;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.07;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_pred=N;MutationTaster_score=0.948;MutationTaster_pred=P;MutationAssessor_score=2.47;MutationAssessor_pred=M;FATHMM_score=0.32;FATHMM_pred=T;phyloP100way_vertebrate=0.461;phyloP20way_mammalian=0.017;SiPhy_29way_logOdds=4.209;gerp++gt2=.;CADD=1.471;CADD_Phred=13.16;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,21:50:99:557,0,740 1 63999868 rs6657480 T C 501.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.089;DP=41;ExcessHet=3.0103;FS=1.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.144;SOR=0.452;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=exonic;Gene=NM_032437;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EFCAB7:NM_032437:exon6:c.T785C:p.M262T;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.196;1000g2015aug_all=0.28754;esp6500siv2_all=0.2650;ExAC_ALL=0.2014;ExAC_AFR=0.5001;ExAC_AMR=0.2026;ExAC_EAS=0.1923;ExAC_FIN=0.1432;ExAC_NFE=0.1624;ExAC_OTH=0.2109;ExAC_SAS=0.1981;SIFT_score=0.845;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.230;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.34;MutationAssessor_pred=N;FATHMM_score=0.51;FATHMM_pred=T;phyloP100way_vertebrate=-0.316;phyloP20way_mammalian=-0.441;SiPhy_29way_logOdds=4.47;gerp++gt2=2.32;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:530,0,620 1 63999891 rs6657559 T C 427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.831;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.851;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.1585;1000g2015aug_all=0.138978;esp6500siv2_all=0.1274;ExAC_ALL=0.1619;ExAC_AFR=0.0776;ExAC_AMR=0.1851;ExAC_EAS=0.1878;ExAC_FIN=0.1335;ExAC_NFE=0.1650;ExAC_OTH=0.1869;ExAC_SAS=0.1806;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:456,0,490 1 64015217 rs217485 G A 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.126;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.522;SOR=0.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDLEU2L,EFCAB7;Func=ncRNA_exonic;Gene=NR_002771;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612089.1,ENST00000371088.4,ENST00000371086.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.962846\x3bName\x3echr13:50043510;Repeat=.;avsnp150=rs217485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6667;1000g2015aug_sas=0.6544;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.885;1000g2015aug_amr=0.67;1000g2015aug_all=0.683107;esp6500siv2_all=.;ExAC_ALL=0.5849;ExAC_AFR=0.8202;ExAC_AMR=0.6206;ExAC_EAS=0.6958;ExAC_FIN=0.4289;ExAC_NFE=0.5278;ExAC_OTH=0.5194;ExAC_SAS=0.6246;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:421,0,652 1 64017168 rs35517033 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2328\x3bName\x3e"145175:AluSc8(SINE)";avsnp150=rs35517033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.1556;1000g2015aug_all=0.142173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 64017234 rs217484 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2328\x3bName\x3e"145175:AluSc8(SINE)";avsnp150=rs217484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6667;1000g2015aug_sas=0.6544;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.885;1000g2015aug_amr=0.67;1000g2015aug_all=0.683107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 64021096 rs2273367 G A 1240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.685;DP=96;ExcessHet=3.0103;FS=1.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.297;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=exonic;Gene=NM_032437;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EFCAB7:NM_032437:exon9:c.G1124A:p.R375K;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.1585;1000g2015aug_all=0.139976;esp6500siv2_all=0.1287;ExAC_ALL=0.1575;ExAC_AFR=0.0769;ExAC_AMR=0.1813;ExAC_EAS=0.1839;ExAC_FIN=0.1323;ExAC_NFE=0.1598;ExAC_OTH=0.1828;ExAC_SAS=0.1774;SIFT_score=0.25;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.439;MutationTaster_pred=P;MutationAssessor_score=1.42;MutationAssessor_pred=L;FATHMM_score=0.91;FATHMM_pred=T;phyloP100way_vertebrate=4.788;phyloP20way_mammalian=1.045;SiPhy_29way_logOdds=10.965;gerp++gt2=4.04;CADD=2.197;CADD_Phred=17.49;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,49:96:99:1269,0,1260 1 64036838 rs4915903 G A 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.611;DP=23;ExcessHet=3.0103;FS=1.991;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-0.595;SOR=0.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFCAB7;Func=intronic;Gene=NM_032437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371088.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.1614;1000g2015aug_all=0.145567;esp6500siv2_all=0.1313;ExAC_ALL=0.1605;ExAC_AFR=0.0894;ExAC_AMR=0.1819;ExAC_EAS=0.1888;ExAC_FIN=0.1325;ExAC_NFE=0.1616;ExAC_OTH=0.1822;ExAC_SAS=0.1804;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,6:23:99:147,0,505 1 64068282 rs199620869 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGM1;Func=intronic;Gene=NM_001172819,NM_002633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540265.5,ENST00000371084.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs199620869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.885;1000g2015aug_amr=0.6787;1000g2015aug_all=0.684305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 64068289 rs141659462 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGM1;Func=intronic;Gene=NM_001172819,NM_002633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371084.7,ENST00000540265.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141659462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.885;1000g2015aug_amr=0.6787;1000g2015aug_all=0.684305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 64309265 rs602934 A C 62.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.383;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=intronic;Gene=NM_001083592,NM_005012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371080.5,ENST00000371079.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.899431\x3bName\x3echr1:51157460;Repeat=.;avsnp150=rs602934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1419;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.333;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.317;1000g2015aug_all=0.447883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:91,0,24 1 64474804 rs285399 C T 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-1.29;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=intronic;Gene=NM_001083592,NM_005012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371079.5,ENST00000371080.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs285399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.7709;1000g2015aug_all=0.66274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:100,0,191 1 64515379 rs1772626 C T 2360.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=1.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=exonic;Gene=NM_001083592,NM_005012;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L;Gencode=Name\x3eENST00000545203.2,ENST00000371079.5,ENST00000371080.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.831;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.8602;1000g2015aug_all=0.778754;esp6500siv2_all=0.7798;ExAC_ALL=0.8384;ExAC_AFR=0.6292;ExAC_AMR=0.8880;ExAC_EAS=0.9585;ExAC_FIN=0.8696;ExAC_NFE=0.8524;ExAC_OTH=0.8392;ExAC_SAS=0.8034;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2389,207,0 1 64608329 rs2762833 G T 2314.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=exonic;Gene=NM_001083592,NM_005012;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ROR1:NM_001083592:exon7:c.G1170T:p.A390A,ROR1:NM_005012:exon7:c.G1170T:p.A390A;Gencode=Name\x3eENST00000424995.1,ENST00000371079.5,ENST00000371080.5,ENST00000545203.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2762833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2343,201,0 1 64624612 rs4362024 G A 754.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=intronic;Gene=NM_005012;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424995.1,ENST00000371079.5,ENST00000545203.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4362024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.9957;1000g2015aug_all=0.960663;esp6500siv2_all=0.9629;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:783,66,0 1 64644721 rs181080038 A C 163.98 PASS AC=2;AF=1;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.33;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eROR1;Func=UTR3;Gene=NM_005012;GeneDetail=NM_005012:c.*183A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371079.5,ENST00000545203.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"146563:(A)n(Simple_repeat)";avsnp150=rs181080038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0417;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0133786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,5:6:13:192,13,0 1 64680324 rs7533812 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2U;Func=intronic;Gene=NM_152489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371076.7,ENST00000611228.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.337;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.2666;1000g2015aug_all=0.27496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 64680682 rs825174 C G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2U;Func=intronic;Gene=NM_152489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371076.7,ENST00000611228.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2337\x3bName\x3e"146616:AluSp(SINE)";avsnp150=rs825174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.6571;1000g2015aug_all=0.746805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 64707243 rs825189 G C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2U;Func=intronic;Gene=NM_152489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371076.7,ENST00000611228.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs825189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.6124;1000g2015aug_all=0.640176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 64726414 rs705542 A C 511.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.94;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152489,NM_020925;GeneDetail=dist\x3e14457\x3bdist\x3e210062;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611228.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.6009;1000g2015aug_all=0.602236;esp6500siv2_all=.;ExAC_ALL=0.6789;ExAC_AFR=0.5200;ExAC_AMR=0.6215;ExAC_EAS=0.7510;ExAC_FIN=0.6994;ExAC_NFE=0.6622;ExAC_OTH=0.6990;ExAC_SAS=0.7019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:540,57,0 1 64732581 rs705548 T A 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152489,NM_020925;GeneDetail=dist\x3e20624\x3bdist\x3e203895;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611228.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.502;1000g2015aug_afr=0.236;1000g2015aug_amr=0.3545;1000g2015aug_all=0.369209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 64736491 rs7520865 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152489,NM_020925;GeneDetail=dist\x3e24534\x3bdist\x3e199985;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e450\x3bName\x3e"146719:MLT1L(LTR)";avsnp150=rs7520865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.3545;1000g2015aug_all=0.394569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 64736492 rs7543330 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152489,NM_020925;GeneDetail=dist\x3e24535\x3bdist\x3e199984;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e450\x3bName\x3e"146719:MLT1L(LTR)";avsnp150=rs7543330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6915;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.5719;1000g2015aug_amr=0.5922;1000g2015aug_all=0.614018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 64767732 rs55687723 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152489,NM_020925;GeneDetail=dist\x3e55775\x3bdist\x3e168744;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e38\x3bName\x3e"146771:GA-rich(Low_complexity)";avsnp150=rs55687723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.1595;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0902556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 65016349 rs2164571 A T 1521.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2164571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9755;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.9409;1000g2015aug_all=0.915735;esp6500siv2_all=0.8922;ExAC_ALL=0.9361;ExAC_AFR=0.7869;ExAC_AMR=0.9700;ExAC_EAS=1;ExAC_FIN=0.9455;ExAC_NFE=0.9352;ExAC_OTH=0.9397;ExAC_SAS=0.9674;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1550,150,0 1 65068638 rs6665437 T C 1163.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9957;1000g2015aug_all=0.987819;esp6500siv2_all=0.9847;ExAC_ALL=0.9961;ExAC_AFR=0.9543;ExAC_AMR=0.9989;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1192,111,0 1 65089766 rs1436756 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1436756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7312;1000g2015aug_sas=0.729;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.6599;1000g2015aug_all=0.680112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 65094815 rs1436754 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1436754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.7689;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.6369;1000g2015aug_all=0.691693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 65098148 rs893080 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs893080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.6664;1000g2015aug_amr=0.9337;1000g2015aug_all=0.885583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 65099978 rs2118102 G A 888.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2118102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.9755;1000g2015aug_all=0.921526;esp6500siv2_all=0.9162;ExAC_ALL=0.9773;ExAC_AFR=0.7469;ExAC_AMR=0.9916;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9899;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:917,75,0 1 65100061 rs2164572 G T 186.9 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.17;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1663\x3bName\x3e"147487:AluJb(SINE)";avsnp150=rs2164572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9712;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.993;1000g2015aug_afr=0.8759;1000g2015aug_amr=0.9769;1000g2015aug_all=0.955871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:14:224,14,0 1 65107372 rs6664905 C T 179.9 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9274;1000g2015aug_amr=0.9986;1000g2015aug_all=0.980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 65107850 rs893074 T C 533.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs893074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9644;1000g2015aug_amr=1;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:562,51,0 1 65113351 rs7534210 T C 890.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=6.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=intronic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:919,66,0 1 65113568 rs6588100 T C 7041.77 PASS AC=2;AF=1;AN=2;DP=210;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=0.959;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACHD1;Func=exonic;Gene=NM_001293274,NM_020925;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T;Gencode=Name\x3eENST00000290039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9917;1000g2015aug_amr=1;1000g2015aug_all=0.997804;esp6500siv2_all=0.9966;ExAC_ALL=0.9990;ExAC_AFR=0.9900;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=0.998;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.06;FATHMM_pred=T;phyloP100way_vertebrate=0.804;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=8.775;gerp++gt2=2.3;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,209:209:99:7070,628,0 1 65304550 rs310242 T C 166.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.57;MQRankSum=-0.18;QD=23.83;ReadPosRankSum=-0.792;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJAK1;Func=intronic;Gene=NM_001320923,NM_001321852,NM_001321853,NM_001321854,NM_001321855,NM_001321856,NM_001321857,NM_002227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342505.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2833\x3bName\x3e"147896:AluYi6(SINE)";avsnp150=rs310242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9164;1000g2015aug_all=0.953674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:195,0,21 1 65425747 rs6663109 A G 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJAK1;Func=intronic;Gene=NM_001320923,NM_001321852,NM_001321853,NM_001321854,NM_001321855,NM_001321856,NM_001321857,NM_002227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342505.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1744\x3bName\x3e"148127:AluJr(SINE)";avsnp150=rs6663109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.7911;1000g2015aug_all=0.863019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 65425824 rs11208558 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJAK1;Func=intronic;Gene=NM_001320923,NM_001321852,NM_001321853,NM_001321854,NM_001321855,NM_001321856,NM_001321857,NM_002227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342505.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1744\x3bName\x3e"148127:AluJr(SINE)";avsnp150=rs11208558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.9337;1000g2015aug_all=0.920927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 65593731 rs7521161 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001321853,NM_203464;GeneDetail=dist\x3e60302\x3bdist\x3e19501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2177\x3bName\x3e"148577:AluSx1(SINE)";avsnp150=rs7521161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 65608694 rs12562845 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001321853,NM_203464;GeneDetail=dist\x3e75265\x3bdist\x3e4538;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1633\x3bName\x3e"148627:AluSz(SINE)";avsnp150=rs12562845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.375;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.389;1000g2015aug_all=0.396166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 65613995 rs528035465 G A 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK4;Func=UTR5;Gene=NM_001005353,NM_013410,NM_203464;GeneDetail=NM_001005353:c.-96G>A\x3bNM_013410:c.-96G>A\x3bNM_203464:c.-96G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546702.5,ENST00000327299.7,ENST00000545314.5,ENST00000395334.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs528035465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.002;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 65614034 rs57193680 T C 117.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.27;MQRankSum=-1.282;QD=23.56;ReadPosRankSum=0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK4;Func=UTR5;Gene=NM_001005353,NM_013410,NM_203464;GeneDetail=NM_001005353:c.-57T>C\x3bNM_013410:c.-57T>C\x3bNM_203464:c.-57T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545314.5,ENST00000327299.7,ENST00000546702.5,ENST00000395334.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57193680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.389;1000g2015aug_all=0.396166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:146,0,27 1 65614260 rs115225200 C T 288.28 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.567;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.21;ReadPosRankSum=-0.949;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK4;Func=intronic;Gene=NM_001005353,NM_013410,NM_203464;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395334.6,ENST00000545314.5,ENST00000327299.7,ENST00000546702.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115225200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.089;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.3069;1000g2015aug_all=0.156749;esp6500siv2_all=0.1031;ExAC_ALL=0.2343;ExAC_AFR=0.3331;ExAC_AMR=0.5457;ExAC_EAS=0.1940;ExAC_FIN=0.1473;ExAC_NFE=0.1847;ExAC_OTH=0.2326;ExAC_SAS=0.1518;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,10:11:9:316,0,9 1 65684425 rs11208611 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.9;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK4;Func=intronic;Gene=NM_001005353,NM_001330616,NM_013410,NM_203464;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395334.6,ENST00000327299.7,ENST00000545314.5,ENST00000546702.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7163;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.5375;1000g2015aug_all=0.603435;esp6500siv2_all=0.4929;ExAC_ALL=0.4504;ExAC_AFR=0.7973;ExAC_AMR=0.6500;ExAC_EAS=0.6903;ExAC_FIN=0.2527;ExAC_NFE=0.3326;ExAC_OTH=0.4312;ExAC_SAS=0.5253;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 65690461 rs4915685 G A 506.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.658;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.67;ReadPosRankSum=-0.602;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK4;Func=exonic;Gene=NM_001005353,NM_001330616,NM_013410,NM_203464;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AK4:NM_001330616:exon4:c.G309A:p.P103P,AK4:NM_013410:exon4:c.G465A:p.P155P,AK4:NM_001005353:exon5:c.G465A:p.P155P,AK4:NM_203464:exon5:c.G465A:p.P155P;Gencode=Name\x3eENST00000546702.5,ENST00000327299.7,ENST00000545314.5,ENST00000395334.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.3314;1000g2015aug_all=0.370008;esp6500siv2_all=0.2445;ExAC_ALL=0.2810;ExAC_AFR=0.3072;ExAC_AMR=0.3682;ExAC_EAS=0.6442;ExAC_FIN=0.1864;ExAC_NFE=0.2090;ExAC_OTH=0.2819;ExAC_SAS=0.3417;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,15:19:99:535,0,110 1 65710726 rs1889929 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_203464,NM_001256865;GeneDetail=dist\x3e12898\x3bdist\x3e19651;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1889929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.675;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.5548;1000g2015aug_all=0.625399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 65710802 rs1889928 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_203464,NM_001256865;GeneDetail=dist\x3e12974\x3bdist\x3e19575;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1889928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.675;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.5548;1000g2015aug_all=0.625399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 65730224 rs3828040 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.4395;1000g2015aug_all=0.472644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 65730851 rs1749970 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.6239;1000g2015aug_all=0.69988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 65730862 rs1749971 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.6153;1000g2015aug_all=0.676518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 65744154 rs565337 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263441.11,ENST00000395325.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs565337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9821;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.8573;1000g2015aug_all=0.816893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 65744159 rs565343 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263441.11,ENST00000395325.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs565343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9821;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.5303;1000g2015aug_amr=0.8429;1000g2015aug_all=0.790335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 65830297 rs2296478 G T 308.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.788;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.228;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263441.11,ENST00000395325.7,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"149169:(T)n(Simple_repeat)";avsnp150=rs2296478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.5202;1000g2015aug_all=0.550319;esp6500siv2_all=.;ExAC_ALL=0.3947;ExAC_AFR=0.3872;ExAC_AMR=0.3940;ExAC_EAS=0.4505;ExAC_FIN=0.3568;ExAC_NFE=0.4084;ExAC_OTH=0.3945;ExAC_SAS=0.3189;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:346,0,356 1 65830299 rs2296479 T G 54.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.198;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.88;ReadPosRankSum=0.176;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263441.11,ENST00000395325.7,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"149169:(T)n(Simple_repeat)";avsnp150=rs2296479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.5202;1000g2015aug_all=0.550319;esp6500siv2_all=.;ExAC_ALL=0.4317;ExAC_AFR=0.4232;ExAC_AMR=0.3486;ExAC_EAS=0.3604;ExAC_FIN=0.4294;ExAC_NFE=0.4534;ExAC_OTH=0.4220;ExAC_SAS=0.3847;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:83:83,0,530 1 65830608 rs1570868 T C 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.675;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=1.777;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371069.4,ENST00000263441.11,ENST00000395325.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1570868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.5173;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:164,0,304 1 65844963 rs3818449 A G 1108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.014;DP=88;ExcessHet=3.0103;FS=2.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.146;SOR=0.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.621;1000g2015aug_all=0.760184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,42:88:99:1137,0,1270 1 65852310 rs11208643 A G 278.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=0.589;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.503;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3213;1000g2015aug_all=0.3127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:15:307,0,15 1 65852870 rs9436725 A G 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.4;DP=12;ExcessHet=3.0103;FS=5.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.312;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263441.11,ENST00000395325.7,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9436725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.6066;1000g2015aug_all=0.707867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:154,0,139 1 65858088 rs6588144 T C 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.23;DP=58;ExcessHet=3.0103;FS=1.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=2.444;SOR=0.466;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.3767;1000g2015aug_amr=0.4568;1000g2015aug_all=0.415935;esp6500siv2_all=0.5042;ExAC_ALL=0.4860;ExAC_AFR=0.3974;ExAC_AMR=0.4662;ExAC_EAS=0.1955;ExAC_FIN=0.4257;ExAC_NFE=0.5426;ExAC_OTH=0.4987;ExAC_SAS=0.5227;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,28:58:99:808,0,870 1 65858145 rs4325172 G A 1034.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.106;DP=74;ExcessHet=3.0103;FS=8.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.948;SOR=1.691;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=exonic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAJC6:NM_001256864:exon12:c.G1500A:p.E500E,DNAJC6:NM_014787:exon12:c.G1329A:p.E443E,DNAJC6:NM_001256865:exon13:c.G1290A:p.E430E;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4325172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.4323;1000g2015aug_all=0.354034;esp6500siv2_all=0.4616;ExAC_ALL=0.4590;ExAC_AFR=0.3048;ExAC_AMR=0.4580;ExAC_EAS=0.1813;ExAC_FIN=0.4194;ExAC_NFE=0.5292;ExAC_OTH=0.4758;ExAC_SAS=0.4331;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,36:73:99:1063,0,940 1 65860687 rs4582839 A C 717.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.711;DP=58;ExcessHet=3.0103;FS=1.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.887;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=exonic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAJC6:NM_001256864:exon13:c.A2010C:p.P670P,DNAJC6:NM_014787:exon13:c.A1839C:p.P613P,DNAJC6:NM_001256865:exon14:c.A1800C:p.P600P;Gencode=Name\x3eENST00000395325.7,ENST00000263441.11,ENST00000371069.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4582839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.682;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.6282;1000g2015aug_all=0.757788;esp6500siv2_all=0.6954;ExAC_ALL=0.6468;ExAC_AFR=0.9275;ExAC_AMR=0.6401;ExAC_EAS=0.7779;ExAC_FIN=0.5711;ExAC_NFE=0.5854;ExAC_OTH=0.6432;ExAC_SAS=0.6842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,30:57:99:746,0,617 1 65867391 rs4592284 C G 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.346;DP=42;ExcessHet=3.0103;FS=1.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.054;SOR=0.334;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371069.4,ENST00000395325.7,ENST00000263441.11;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4592284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.682;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.6138;1000g2015aug_all=0.73143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:579,0,647 1 65872011 rs60807413 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371069.4,ENST00000263441.11,ENST00000395325.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60807413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.0885;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.121;1000g2015aug_all=0.132188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 65874147 rs2274437 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJC6;Func=intronic;Gene=NM_001256864,NM_001256865,NM_014787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371069.4,ENST00000263441.11,ENST00000395325.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e347\x3bName\x3e"149259:MIRc(SINE)";avsnp150=rs2274437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.636;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.5692;1000g2015aug_all=0.707069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 66036441 rs1137100 A G 553.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.114;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.227;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=exonic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LEPR:NM_001198687:exon3:c.A326G:p.K109R,LEPR:NM_001198688:exon3:c.A326G:p.K109R,LEPR:NM_001198689:exon3:c.A326G:p.K109R,LEPR:NM_001003679:exon4:c.A326G:p.K109R,LEPR:NM_001003680:exon4:c.A326G:p.K109R,LEPR:NM_002303:exon4:c.A326G:p.K109R;Gencode=Name\x3eENST00000616738.4,ENST00000371059.7,ENST00000371058.1,ENST00000344610.12,ENST00000371060.7,ENST00000406510.7,ENST00000349533.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1137100;cosmic70=.;CLNALLELEID=23562;CLNDN=LEPTIN_RECEPTOR_POLYMORPHISM|Leptin_receptor_deficiency|not_specified|Monogenic_Non-Syndromic_Obesity;CLNDISDB=.|MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN169374|MedGen:CN239457;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.2378;1000g2015aug_all=0.320288;esp6500siv2_all=0.2334;ExAC_ALL=0.2942;ExAC_AFR=0.1632;ExAC_AMR=0.3149;ExAC_EAS=0.8221;ExAC_FIN=0.3662;ExAC_NFE=0.2589;ExAC_OTH=0.2690;ExAC_SAS=0.1761;SIFT_score=0.321;SIFT_pred=T;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.725;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.693;MutationTaster_pred=P;MutationAssessor_score=2.255;MutationAssessor_pred=M;FATHMM_score=0.23;FATHMM_pred=T;phyloP100way_vertebrate=2.348;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=8.814;gerp++gt2=4.55;CADD=1.636;CADD_Phred=14.05;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,22:39:99:582,0,423 1 66036501 rs2186248 G T 519.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371060.7,ENST00000406510.7,ENST00000349533.10,ENST00000344610.12,ENST00000371058.1,ENST00000616738.4,ENST00000371059.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2186248;cosmic70=.;CLNALLELEID=480430;CLNDN=Leptin_receptor_deficiency;CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9995;ExAC_ALL=0.9999;ExAC_AFR=0.9990;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:548,45,0 1 66058513 rs1137101 A G 850.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.295;DP=50;ExcessHet=3.0103;FS=8.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=0.88;SOR=1.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=exonic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LEPR:NM_001198687:exon5:c.A668G:p.Q223R,LEPR:NM_001198688:exon5:c.A668G:p.Q223R,LEPR:NM_001198689:exon5:c.A668G:p.Q223R,LEPR:NM_001003679:exon6:c.A668G:p.Q223R,LEPR:NM_001003680:exon6:c.A668G:p.Q223R,LEPR:NM_002303:exon6:c.A668G:p.Q223R;Gencode=Name\x3eENST00000344610.12,ENST00000349533.10,ENST00000406510.7,ENST00000371060.7,ENST00000371059.7,ENST00000616738.4,ENST00000371058.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1137101;cosmic70=.;CLNALLELEID=23560;CLNDN=LEPTIN_RECEPTOR_POLYMORPHISM|Leptin_receptor_deficiency|not_specified|Monogenic_Non-Syndromic_Obesity;CLNDISDB=.|MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN169374|MedGen:CN239457;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.4366;1000g2015aug_all=0.584265;esp6500siv2_all=0.4903;ExAC_ALL=0.5103;ExAC_AFR=0.5554;ExAC_AMR=0.4679;ExAC_EAS=0.8783;ExAC_FIN=0.6084;ExAC_NFE=0.4619;ExAC_OTH=0.5077;ExAC_SAS=0.4746;SIFT_score=0.22;SIFT_pred=T;Polyphen2_HDIV_score=0.282;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_pred=B;LRT_score=0.112;LRT_pred=N;MutationTaster_score=0.622;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=L;FATHMM_score=0.56;FATHMM_pred=T;phyloP100way_vertebrate=2.891;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=9.228;gerp++gt2=3.66;CADD=1.483;CADD_Phred=13.22;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,31:50:99:879,0,471 1 66062325 rs3828034 A G 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.135;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371059.7,ENST00000616738.4,ENST00000371058.1,ENST00000344610.12,ENST00000349533.10,ENST00000406510.7,ENST00000371060.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.1787;1000g2015aug_all=0.0950479;esp6500siv2_all=0.1262;ExAC_ALL=0.1539;ExAC_AFR=0.0325;ExAC_AMR=0.1606;ExAC_EAS=0.0393;ExAC_FIN=0.1264;ExAC_NFE=0.1843;ExAC_OTH=0.155;ExAC_SAS=0.1705;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 66064293 rs3762273 A C 844.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.76;DP=63;ExcessHet=3.0103;FS=3.241;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.609;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371060.7,ENST00000349533.10,ENST00000406510.7,ENST00000344610.12,ENST00000371058.1,ENST00000616738.4,ENST00000371059.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e807\x3bName\x3e"149596:L1M5(LINE)";avsnp150=rs3762273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.4265;1000g2015aug_all=0.573882;esp6500siv2_all=0.4409;ExAC_ALL=0.4731;ExAC_AFR=0.5597;ExAC_AMR=0.4571;ExAC_EAS=0.8868;ExAC_FIN=0.5704;ExAC_NFE=0.4042;ExAC_OTH=0.4717;ExAC_SAS=0.4500;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,31:63:99:873,0,1056 1 66064710 rs3828033 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344610.12,ENST00000349533.10,ENST00000406510.7,ENST00000371060.7,ENST00000371059.7,ENST00000616738.4,ENST00000371058.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8621;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.4107;1000g2015aug_all=0.559904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 66071082 rs79035087 T A 188.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.97;ReadPosRankSum=-0.792;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616738.4,ENST00000371059.7,ENST00000371058.1,ENST00000344610.12,ENST00000371060.7,ENST00000349533.10,ENST00000406510.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79035087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1744;1000g2015aug_all=0.0890575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:217,0,21 1 66075952 rs1805094 G C 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.178;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.158;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=exonic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LEPR:NM_001198687:exon13:c.G1968C:p.K656N,LEPR:NM_001198688:exon13:c.G1968C:p.K656N,LEPR:NM_001198689:exon13:c.G1968C:p.K656N,LEPR:NM_001003679:exon14:c.G1968C:p.K656N,LEPR:NM_001003680:exon14:c.G1968C:p.K656N,LEPR:NM_002303:exon14:c.G1968C:p.K656N;Gencode=Name\x3eENST00000371060.7,ENST00000349533.10,ENST00000406510.7,ENST00000344610.12,ENST00000371058.1,ENST00000616738.4,ENST00000371059.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805094;cosmic70=.;CLNALLELEID=23563;CLNDN=LEPTIN_RECEPTOR_POLYMORPHISM|Leptin_receptor_deficiency|Monogenic_Non-Syndromic_Obesity;CLNDISDB=.|MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN239457;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.1888;1000g2015aug_all=0.142372;esp6500siv2_all=0.1767;ExAC_ALL=0.1579;ExAC_AFR=0.1933;ExAC_AMR=0.1609;ExAC_EAS=0.0550;ExAC_FIN=0.1228;ExAC_NFE=0.1732;ExAC_OTH=0.1560;ExAC_SAS=0.1405;SIFT_score=0.448;SIFT_pred=T;Polyphen2_HDIV_score=0.696;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.232;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.405;MutationAssessor_pred=L;FATHMM_score=0.41;FATHMM_pred=T;phyloP100way_vertebrate=-0.469;phyloP20way_mammalian=-0.950;SiPhy_29way_logOdds=9.133;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:578,0,591 1 66085525 rs3790438 T A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616738.4,ENST00000371059.7,ENST00000371058.1,ENST00000344610.12,ENST00000371060.7,ENST00000349533.10,ENST00000406510.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.1888;1000g2015aug_all=0.142772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 66085574 rs3790439 T A 469.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371058.1,ENST00000371059.7,ENST00000616738.4,ENST00000406510.7,ENST00000349533.10,ENST00000371060.7,ENST00000344610.12;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.4971;1000g2015aug_all=0.563898;esp6500siv2_all=0.4355;ExAC_ALL=0.4675;ExAC_AFR=0.5586;ExAC_AMR=0.5216;ExAC_EAS=0.8709;ExAC_FIN=0.4774;ExAC_NFE=0.3866;ExAC_OTH=0.4548;ExAC_SAS=0.4717;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:498,48,0 1 66087301 rs4655743 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000349533.10,ENST00000406510.7,ENST00000371060.7,ENST00000344610.12,ENST00000371058.1,ENST00000371059.7,ENST00000616738.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.4971;1000g2015aug_all=0.563898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 66088701 rs12067936 C A 582.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371059.7,ENST00000616738.4,ENST00000371058.1,ENST00000344610.12,ENST00000349533.10,ENST00000406510.7,ENST00000371060.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12067936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.5756;1000g2015aug_amr=0.4957;1000g2015aug_all=0.563299;esp6500siv2_all=0.4354;ExAC_ALL=0.4677;ExAC_AFR=0.5590;ExAC_AMR=0.5261;ExAC_EAS=0.8706;ExAC_FIN=0.4838;ExAC_NFE=0.3863;ExAC_OTH=0.4553;ExAC_SAS=0.4719;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:611,57,0 1 66092017 rs6588153 T A 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=intronic;Gene=NM_001003679,NM_001003680,NM_001198687,NM_001198689,NM_002303;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371059.7,ENST00000616738.4,ENST00000349533.10,ENST00000406510.7,ENST00000371060.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.4841;1000g2015aug_all=0.527955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 66099013 rs17415296 C A 217.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.548;DP=18;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.356;SOR=0.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=UTR3;Gene=NM_001003679,NM_001198689;GeneDetail=NM_001003679:c.*161C>A\x3bNM_001198689:c.*161C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616738.4,ENST00000371060.7,ENST00000406510.7,ENST00000349533.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17415296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.1772;1000g2015aug_all=0.0976438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:246,0,364 1 66102257 rs1805096 G A 1931.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=2.393;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEPR;Func=exonic;Gene=NM_002303;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LEPR:NM_002303:exon20:c.G3057A:p.P1019P;Gencode=Name\x3eENST00000349533.10,ENST00000406510.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805096;cosmic70=.;CLNALLELEID=282947;CLNDN=Leptin_receptor_deficiency|not_specified|Monogenic_Non-Syndromic_Obesity;CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN169374|MedGen:CN239457;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=Name\x3eC-reactive_protein;1000g2015aug_eas=0.869;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.4841;1000g2015aug_all=0.529752;esp6500siv2_all=0.4075;ExAC_ALL=0.4526;ExAC_AFR=0.4552;ExAC_AMR=0.5143;ExAC_EAS=0.8706;ExAC_FIN=0.4823;ExAC_NFE=0.3809;ExAC_OTH=0.44;ExAC_SAS=0.4668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1960,156,0 1 66155515 rs4655584 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002303,NM_001297440;GeneDetail=dist\x3e52339\x3bdist\x3e102678;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.4827;1000g2015aug_all=0.529153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 66155627 rs4655585 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002303,NM_001297440;GeneDetail=dist\x3e52451\x3bdist\x3e102566;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.4827;1000g2015aug_all=0.527756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 66259418 rs11208751 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037341,NM_001297440,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329654.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.182;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.2075;1000g2015aug_all=0.211861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:29:75,0,29 1 66731886 rs6588193 G C 468.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423207.6,ENST00000329654.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.2752;1000g2015aug_all=0.274161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:497,39,0 1 66732386 rs6588194 G A 3594.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=1.104;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329654.8,ENST00000423207.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.2767;1000g2015aug_all=0.274361;esp6500siv2_all=0.4198;ExAC_ALL=0.4599;ExAC_AFR=0.2307;ExAC_AMR=0.3131;ExAC_EAS=0.1976;ExAC_FIN=0.5729;ExAC_NFE=0.5547;ExAC_OTH=0.4589;ExAC_SAS=0.3448;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:3623,356,0 1 66732529 rs6701329 A T 1754.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=2.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329654.8,ENST00000423207.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.323;1000g2015aug_amr=0.3847;1000g2015aug_all=0.445288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1783,153,0 1 66796226 rs910694 C T 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329654.8,ENST00000423207.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs910694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.5749;1000g2015aug_all=0.505391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 66828699 rs783040 T C 270.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037339,NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_001297442,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329654.8,ENST00000480109.2,ENST00000371045.9,ENST00000423207.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs783040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9454;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.7709;1000g2015aug_all=0.824081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:26:299,26,0 1 66829262 rs783039 A G 1377.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=intronic;Gene=NM_001037339,NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_001297442,NM_002600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371045.9,ENST00000423207.6,ENST00000329654.8,ENST00000480109.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs783039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9454;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.7839;1000g2015aug_all=0.86901;esp6500siv2_all=0.7909;ExAC_ALL=0.7917;ExAC_AFR=0.9164;ExAC_AMR=0.7512;ExAC_EAS=0.9477;ExAC_FIN=0.6845;ExAC_NFE=0.7456;ExAC_OTH=0.8067;ExAC_SAS=0.8880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1406,141,0 1 66831370 rs783036 G A 318.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.65;DP=56;ExcessHet=3.0103;FS=1.118;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=0.08;SOR=0.683;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePDE4B;Func=exonic;Gene=NM_001037339,NM_001037340,NM_001037341,NM_001297440,NM_001297441,NM_001297442,NM_002600;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PDE4B:NM_001037339:exon6:c.G789A:p.E263E,PDE4B:NM_001297442:exon6:c.G606A:p.E202E,PDE4B:NM_001037340:exon11:c.G1260A:p.E420E,PDE4B:NM_001297440:exon12:c.G1029A:p.E343E,PDE4B:NM_001297441:exon12:c.G1080A:p.E360E,PDE4B:NM_001037341:exon13:c.G1305A:p.E435E,PDE4B:NM_002600:exon13:c.G1305A:p.E435E;Gencode=Name\x3eENST00000480109.2,ENST00000329654.8,ENST00000371045.9,ENST00000423207.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs783036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1458;1000g2015aug_sas=0.592;1000g2015aug_eur=0.492;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.4467;1000g2015aug_all=0.514976;esp6500siv2_all=0.5694;ExAC_ALL=0.4868;ExAC_AFR=0.7496;ExAC_AMR=0.4869;ExAC_EAS=0.1337;ExAC_FIN=0.4829;ExAC_NFE=0.4773;ExAC_OTH=0.4666;ExAC_SAS=0.5459;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,17:56:99:347,0,1185 1 67000103 rs1445578 A G 906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.282;DP=85;ExcessHet=3.0103;FS=3.009;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=1.001;SOR=1.145;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000237247.10,ENST00000371039.5,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1445578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.1772;1000g2015aug_all=0.176917;esp6500siv2_all=0.1441;ExAC_ALL=0.1892;ExAC_AFR=0.1121;ExAC_AMR=0.2570;ExAC_EAS=0.3626;ExAC_FIN=0.1704;ExAC_NFE=0.1721;ExAC_OTH=0.1909;ExAC_SAS=0.1765;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,34:85:99:935,0,1247 1 67000162 rs1445579 T G 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.534;DP=50;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.954;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371039.5,ENST00000237247.10,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1445579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.1772;1000g2015aug_all=0.177117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,21:50:99:557,0,789 1 67094171 rs12402181 G A 1027.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=80;ExcessHet=3.0103;FS=0.855;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.938;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR3117,SGIP1;Func=ncRNA_exonic;Gene=NR_036060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000584034.2,ENST00000237247.10,ENST00000371039.5;cytoBand=1p31.3;wgRna=Name\x3ehsa-mir-3117;genomicSuperDups=.;Repeat=.;avsnp150=rs12402181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.2853;1000g2015aug_all=0.292332;esp6500siv2_all=.;ExAC_ALL=0.2216;ExAC_AFR=0.3661;ExAC_AMR=0.1630;ExAC_EAS=0.3594;ExAC_FIN=0;ExAC_NFE=0.1605;ExAC_OTH=0.3571;ExAC_SAS=0.1759;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,40:80:99:1056,0,1146 1 67094336 rs4655646 G A 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.949;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.919;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000371039.5,ENST00000237247.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.908;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.768;1000g2015aug_all=0.836462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:205,0,297 1 67101802 rs7546825 A G 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.37;ReadPosRankSum=-0.126;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371039.5,ENST00000237247.10,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7546825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.5663;1000g2015aug_all=0.573882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,9:10:43:416,0,43 1 67109335 rs7526812 A G 722.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.05;DP=65;ExcessHet=3.0103;FS=0.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.397;SOR=0.907;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=exonic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SGIP1:NM_001350218:exon6:c.A320G:p.K107R,SGIP1:NM_001308203:exon7:c.A320G:p.K107R,SGIP1:NM_001350217:exon7:c.A404G:p.K135R,SGIP1:NM_032291:exon7:c.A392G:p.K131R;Gencode=Name\x3eENST00000371039.5,ENST00000237247.10,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2738;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.2867;1000g2015aug_all=0.282348;esp6500siv2_all=0.2237;ExAC_ALL=0.2145;ExAC_AFR=0.3782;ExAC_AMR=0.3420;ExAC_EAS=0.2787;ExAC_FIN=0.1569;ExAC_NFE=0.1596;ExAC_OTH=0.2037;ExAC_SAS=0.2342;SIFT_score=0.209;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=2.26;FATHMM_pred=T;phyloP100way_vertebrate=2.817;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=11.489;gerp++gt2=5.3;CADD=3.225;CADD_Phred=22.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:751,0,808 1 67126114 rs12094526 A G 761.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.233;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.192;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000237247.10,ENST00000371039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12094526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.587;1000g2015aug_amr=0.6556;1000g2015aug_all=0.652955;esp6500siv2_all=0.4744;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:790,0,730 1 67145156 rs11208945 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000237247.10,ENST00000371039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.4597;1000g2015aug_all=0.46845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 67145322 rs10889644 C A 525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.224;DP=33;ExcessHet=3.0103;FS=8.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-1.235;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000237247.10,ENST00000371039.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.7435;1000g2015aug_all=0.774161;esp6500siv2_all=0.5985;ExAC_ALL=0.6778;ExAC_AFR=0.6652;ExAC_AMR=0.8283;ExAC_EAS=0.9995;ExAC_FIN=0.5463;ExAC_NFE=0.5776;ExAC_OTH=0.6821;ExAC_SAS=0.8693;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,20:33:99:554,0,376 1 67149706 rs10749764 G C 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.555;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.742;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000237247.10,ENST00000371039.5,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10749764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.729;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.4319;1000g2015aug_amr=0.6441;1000g2015aug_all=0.605232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,6:20:99:178,0,513 1 67160336 rs2146904 A G 672.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.034;DP=57;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.52;SOR=0.44;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371039.5,ENST00000237247.10,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2146904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.816;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.7334;1000g2015aug_all=0.740815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,27:57:99:701,0,865 1 67184921 rs41286720 A G 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=16;ExcessHet=3.0103;FS=6.726;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.361;SOR=3.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000435165.2,ENST00000371039.5,ENST00000237247.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41286720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:244,0,294 1 67195184 rs1032635 C G 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.383;DP=35;ExcessHet=3.0103;FS=1.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-2.382;SOR=1.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371039.5,ENST00000237247.10,ENST00000435165.2,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1032635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.2867;1000g2015aug_all=0.3127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,12:35:99:391,0,1453 1 67195192 rs1032634 C G 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.267;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.751;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000237247.10,ENST00000371039.5,ENST00000435165.2,ENST00000371037.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1032634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.2695;1000g2015aug_all=0.266174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,8:30:99:298,0,1423 1 67205327 rs473470 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.465;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSGIP1;Func=intronic;Gene=NM_001308203,NM_001350217,NM_001350218,NM_032291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371037.8,ENST00000435165.2,ENST00000371039.5,ENST00000237247.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs473470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.5403;1000g2015aug_all=0.584265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,109 1 67242200 rs7541120 G A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-1.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCTEX1D1;Func=intronic;Gene=NM_152665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000282670.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.211;1000g2015aug_amr=0.2248;1000g2015aug_all=0.19988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,73 1 67243024 rs2133173 C A 1204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.497;DP=87;ExcessHet=3.0103;FS=0.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.259;SOR=0.557;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCTEX1D1;Func=exonic;Gene=NM_152665;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TCTEX1D1:NM_152665:exon5:c.C427A:p.L143I;Gencode=Name\x3eENST00000282670.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2133173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.205;1000g2015aug_amr=0.2219;1000g2015aug_all=0.197684;esp6500siv2_all=0.2750;ExAC_ALL=0.2589;ExAC_AFR=0.2256;ExAC_AMR=0.2381;ExAC_EAS=0.0846;ExAC_FIN=0.3829;ExAC_NFE=0.2968;ExAC_OTH=0.2159;ExAC_SAS=0.1847;SIFT_score=0.48;SIFT_pred=T;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.277;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.835;MutationAssessor_pred=L;FATHMM_score=1.56;FATHMM_pred=T;phyloP100way_vertebrate=1.367;phyloP20way_mammalian=-0.415;SiPhy_29way_logOdds=7.868;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,48:87:99:1233,0,913 1 67266756 rs549148 T A 2336.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINSL5;Func=exonic;Gene=NM_005478;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=INSL5:NM_005478:exon1:c.A149T:p.Q50L;Gencode=Name\x3eENST00000304526.2;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs549148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.83;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.8919;1000g2015aug_all=0.871206;esp6500siv2_all=0.8426;ExAC_ALL=0.8764;ExAC_AFR=0.8042;ExAC_AMR=0.8691;ExAC_EAS=0.9951;ExAC_FIN=0.9146;ExAC_NFE=0.8666;ExAC_OTH=0.8612;ExAC_SAS=0.8897;SIFT_score=0.973;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.091;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.455;MutationAssessor_pred=N;FATHMM_score=-2.49;FATHMM_pred=D;phyloP100way_vertebrate=-0.204;phyloP20way_mammalian=-1.529;SiPhy_29way_logOdds=6.518;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2365,216,0 1 67288045 rs482082 C T 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.193;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.171;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=exonic;Gene=NM_024763;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WDR78:NM_024763:exon16:c.G2495A:p.R832Q;Gencode=Name\x3eENST00000371026.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs482082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.5447;1000g2015aug_all=0.514776;esp6500siv2_all=0.5161;ExAC_ALL=0.5009;ExAC_AFR=0.5654;ExAC_AMR=0.5993;ExAC_EAS=0.6522;ExAC_FIN=0.3515;ExAC_NFE=0.4902;ExAC_OTH=0.4944;ExAC_SAS=0.4115;SIFT_score=0.429;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.089;LRT_pred=N;MutationTaster_score=0.920;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.96;FATHMM_pred=T;phyloP100way_vertebrate=1.612;phyloP20way_mammalian=-1.646;SiPhy_29way_logOdds=6.452;gerp++gt2=2.34;CADD=1.859;CADD_Phred=15.34;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:284,0,431 1 67292478 rs36067642 T A 1311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.541;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.23;ReadPosRankSum=0.614;SOR=0.734;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=intronic;Gene=NM_024763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371026.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36067642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.4524;1000g2015aug_all=0.46905;esp6500siv2_all=0.4619;ExAC_ALL=0.4987;ExAC_AFR=0.3792;ExAC_AMR=0.3973;ExAC_EAS=0.3568;ExAC_FIN=0.6476;ExAC_NFE=0.5107;ExAC_OTH=0.5123;ExAC_SAS=0.6112;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,34:59:99:1340,0,1613 1 67303303 rs6698076 A G 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=UTR3;Gene=NM_207014;GeneDetail=NM_207014:c.*33T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371023.7,ENST00000371026.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.327;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.3818;1000g2015aug_all=0.498802;esp6500siv2_all=0.3939;ExAC_ALL=0.5304;ExAC_AFR=0.5490;ExAC_AMR=0.5394;ExAC_EAS=0.7307;ExAC_FIN=0.4502;ExAC_NFE=0.4818;ExAC_OTH=0.5275;ExAC_SAS=0.5835;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 67359195 rs3008881 T A 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=intronic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371026.7,ENST00000371022.3,ENST00000371023.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.2644;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.196;1000g2015aug_all=0.321885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 67377722 rs2985811 G T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=intronic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371023.7,ENST00000371022.3,ENST00000371026.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2015\x3bName\x3e"151914:AluSx(SINE)";avsnp150=rs2985811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8916;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.8329;1000g2015aug_all=0.834665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 67377739 rs3008894 A G 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.56;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=intronic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371023.7,ENST00000371026.7,ENST00000371022.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2015\x3bName\x3e"151914:AluSx(SINE)";avsnp150=rs3008894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8916;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.8401;1000g2015aug_all=0.860224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 67384639 rs6657065 T G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=intronic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371022.3,ENST00000371026.7,ENST00000371023.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3059\x3bName\x3e"151929:MER4A1(LTR)";avsnp150=rs6657065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.66;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.732;1000g2015aug_all=0.629593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 67390416 rs3008858 G C 4455.77 PASS AC=2;AF=1;AN=2;DP=137;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=exonic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W;Gencode=Name\x3eENST00000371022.3,ENST00000371026.7,ENST00000371023.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8343;1000g2015aug_all=0.837859;esp6500siv2_all=0.7684;ExAC_ALL=0.7845;ExAC_AFR=0.8313;ExAC_AMR=0.8854;ExAC_EAS=0.8752;ExAC_FIN=0.6343;ExAC_NFE=0.7426;ExAC_OTH=0.7819;ExAC_SAS=0.8661;SIFT_score=0.201;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.29;FATHMM_pred=T;phyloP100way_vertebrate=-2.331;phyloP20way_mammalian=0.023;SiPhy_29way_logOdds=1.902;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,137:137:99:4484,410,0 1 67390468 rs1886686 C G 3237.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=2.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR78;Func=exonic;Gene=NM_024763,NM_207014;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A;Gencode=Name\x3eENST00000371023.7,ENST00000371022.3,ENST00000371026.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.8372;1000g2015aug_all=0.842652;esp6500siv2_all=0.7724;ExAC_ALL=0.7859;ExAC_AFR=0.8447;ExAC_AMR=0.8858;ExAC_EAS=0.8757;ExAC_FIN=0.6343;ExAC_NFE=0.7429;ExAC_OTH=0.7819;ExAC_SAS=0.8661;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.700;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=0.26;FATHMM_pred=T;phyloP100way_vertebrate=0.941;phyloP20way_mammalian=0.083;SiPhy_29way_logOdds=4.406;gerp++gt2=2.2;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:3266,279,0 1 67390999 rs3008859 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIER1;Func=intronic;Gene=NM_001077700,NM_001077702,NM_001077703,NM_001146110,NM_001146111,NM_001146112,NM_001146113,NM_001278215,NM_001350530,NM_020948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371012.6,ENST00000371016.5,ENST00000371014.5,ENST00000357692.6,ENST00000371018.7,ENST00000401041.5,ENST00000355977.10;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.8357;1000g2015aug_all=0.838059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 67391003 rs3008860 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIER1;Func=intronic;Gene=NM_001077700,NM_001077702,NM_001077703,NM_001146110,NM_001146111,NM_001146112,NM_001146113,NM_001278215,NM_001350530,NM_020948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355977.10,ENST00000401041.5,ENST00000357692.6,ENST00000371018.7,ENST00000371014.5,ENST00000371016.5,ENST00000371012.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8357;1000g2015aug_all=0.838658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 67396222 rs3008861 T G 487.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIER1;Func=intronic;Gene=NM_001077700,NM_001077701,NM_001077702,NM_001077703,NM_001077704,NM_001146110,NM_001146111,NM_001146112,NM_001146113,NM_001278215,NM_001350530,NM_020948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355356.3,ENST00000355977.10,ENST00000401041.5,ENST00000371016.5,ENST00000357692.6,ENST00000371018.7,ENST00000371014.5,ENST00000401042.7,ENST00000371012.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.8775;1000g2015aug_all=0.879393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:516,42,0 1 67425311 rs2985794 T G 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIER1;Func=intronic;Gene=NM_001077700,NM_001077701,NM_001077702,NM_001077703,NM_001077704,NM_001146110,NM_001146111,NM_001146112,NM_001146113,NM_001350530,NM_020948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355977.10,ENST00000401041.5,ENST00000355356.3,ENST00000401042.7,ENST00000357692.6,ENST00000371018.7,ENST00000371014.5,ENST00000371016.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2985794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.8357;1000g2015aug_all=0.838858;esp6500siv2_all=0.7718;ExAC_ALL=0.7854;ExAC_AFR=0.8323;ExAC_AMR=0.8860;ExAC_EAS=0.8735;ExAC_FIN=0.6349;ExAC_NFE=0.7444;ExAC_OTH=0.7849;ExAC_SAS=0.8659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 67473977 rs2755266 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2107\x3bName\x3e"152069:AluSc(SINE)";avsnp150=rs2755266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.66;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.7291;1000g2015aug_all=0.61242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 67487119 rs2065002 C A 2086.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.146;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2065002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.66;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.732;1000g2015aug_all=0.632188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2115,201,0 1 67487401 rs11576753 G C 109.18 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.64;QD=27.3;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e48\x3bName\x3e"152089:(ACACAG)n(Simple_repeat)";avsnp150=rs11576753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.7133;1000g2015aug_all=0.631589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:10:137,10,0 1 67487407 rs11208992 G C 145 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.56;QD=29;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e48\x3bName\x3e"152089:(ACACAG)n(Simple_repeat)";avsnp150=rs11208992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.7233;1000g2015aug_all=0.642772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:12:182,12,0 1 67500828 rs2862729 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16589\x3bName\x3e"152119:L1MA3(LINE)";avsnp150=rs2862729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.354;1000g2015aug_amr=0.7219;1000g2015aug_all=0.637181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 67500829 rs2862730 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16589\x3bName\x3e"152119:L1MA3(LINE)";avsnp150=rs2862730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.6744;1000g2015aug_all=0.55631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 67507734 rs2815375 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.8602;1000g2015aug_all=0.789137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 67512903 rs1024229 G T 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1024229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.6873;1000g2015aug_all=0.709465;esp6500siv2_all=0.6890;ExAC_ALL=0.6788;ExAC_AFR=0.7666;ExAC_AMR=0.6625;ExAC_EAS=0.6324;ExAC_FIN=0.5759;ExAC_NFE=0.6658;ExAC_OTH=0.6755;ExAC_SAS=0.7529;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 67512920 rs1024230 A C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1024230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.6873;1000g2015aug_all=0.709465;esp6500siv2_all=0.6880;ExAC_ALL=0.6816;ExAC_AFR=0.7687;ExAC_AMR=0.6661;ExAC_EAS=0.6355;ExAC_FIN=0.5762;ExAC_NFE=0.6694;ExAC_OTH=0.6761;ExAC_SAS=0.7537;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 67515228 rs2815382 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.32;1000g2015aug_amr=0.6052;1000g2015aug_all=0.555112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 67515309 rs2755257 C T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2755257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.6052;1000g2015aug_all=0.553714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 67516316 rs2815383 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.1762;1000g2015aug_amr=0.6009;1000g2015aug_all=0.514776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 67519333 rs2251004 C G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35D1;Func=intronic;Gene=NM_015139;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"152146:(GCCC)n(Simple_repeat)";avsnp150=rs2251004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.668;1000g2015aug_afr=0.73;1000g2015aug_amr=0.6282;1000g2015aug_all=0.695088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 67558739 rs6588237 C T 792.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=exonic;Gene=NM_001276351;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf141:NM_001276351:exon8:c.G1152A:p.T384T;Gencode=Name\x3eENST00000371007.6,ENST00000371006.5,ENST00000621590.4,ENST00000475209.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9107;1000g2015aug_all=0.920727;esp6500siv2_all=0.8768;ExAC_ALL=0.8872;ExAC_AFR=0.9091;ExAC_AMR=0.9403;ExAC_EAS=0.9725;ExAC_FIN=0.7715;ExAC_NFE=0.8553;ExAC_OTH=0.8830;ExAC_SAS=0.9670;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:821,81,0 1 67560897 rs10889653 A G 772.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621590.4,ENST00000475209.6,ENST00000371007.6,ENST00000371006.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.915;1000g2015aug_all=0.932308;esp6500siv2_all=0.8862;ExAC_ALL=0.8880;ExAC_AFR=0.9427;ExAC_AMR=0.9418;ExAC_EAS=0.9719;ExAC_FIN=0.7707;ExAC_NFE=0.8546;ExAC_OTH=0.8821;ExAC_SAS=0.9701;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:801,78,0 1 67560956 rs11208997 C T 1041.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=0.984;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=exonic;Gene=NM_001276351;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf141:NM_001276351:exon7:c.G565A:p.V189I;Gencode=Name\x3eENST00000371006.5,ENST00000371007.6,ENST00000475209.6,ENST00000621590.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11208997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.915;1000g2015aug_all=0.938498;esp6500siv2_all=0.8936;ExAC_ALL=0.8923;ExAC_AFR=0.9662;ExAC_AMR=0.9421;ExAC_EAS=0.9720;ExAC_FIN=0.7709;ExAC_NFE=0.8554;ExAC_OTH=0.8863;ExAC_SAS=0.9676;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.052;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.975;MutationAssessor_pred=N;FATHMM_score=2.09;FATHMM_pred=T;phyloP100way_vertebrate=1.010;phyloP20way_mammalian=0.145;SiPhy_29way_logOdds=7.485;gerp++gt2=4.38;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1070,111,0 1 67562106 rs6670381 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371006.5,ENST00000371007.6,ENST00000475209.6,ENST00000621590.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e299\x3bName\x3e"152225:L2a(LINE)";avsnp150=rs6670381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.7986;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.5446;1000g2015aug_amr=0.7305;1000g2015aug_all=0.709065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 67568824 rs1885276 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000475209.6,ENST00000621590.4,ENST00000371006.5,ENST00000371007.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.8131;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9092;1000g2015aug_all=0.919329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 67577367 rs6588240 A T 415.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000475209.6,ENST00000621590.4,ENST00000371006.5,ENST00000371007.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6588240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.6641;1000g2015aug_amr=0.8256;1000g2015aug_all=0.805312;esp6500siv2_all=.;ExAC_ALL=0.8292;ExAC_AFR=0.6906;ExAC_AMR=0.8309;ExAC_EAS=0.8870;ExAC_FIN=0.6799;ExAC_NFE=0.8150;ExAC_OTH=0.8764;ExAC_SAS=0.9066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:444,45,0 1 67579386 rs2144656 A G 1143.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=2.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621590.4,ENST00000475209.6,ENST00000371007.6,ENST00000371006.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e238\x3bName\x3e"152275:L2a(LINE)";avsnp150=rs2144656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.8131;1000g2015aug_afr=0.913;1000g2015aug_amr=0.9092;1000g2015aug_all=0.917931;esp6500siv2_all=.;ExAC_ALL=0.9376;ExAC_AFR=0.8789;ExAC_AMR=0.9130;ExAC_EAS=0.9773;ExAC_FIN=.;ExAC_NFE=0.8666;ExAC_OTH=0.9483;ExAC_SAS=0.9640;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1172,105,0 1 67591347 rs6691094 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621590.4,ENST00000475209.6,ENST00000371007.6,ENST00000371006.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1843\x3bName\x3e"152303:AluJb(SINE)";avsnp150=rs6691094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.6614;1000g2015aug_all=0.611821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 67591660 rs4655520 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf141;Func=intronic;Gene=NM_001276351,NM_001276352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371006.5,ENST00000371007.6,ENST00000475209.6,ENST00000621590.4;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.91;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.5318;1000g2015aug_amr=0.8184;1000g2015aug_all=0.76857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 67633812 rs1884444 G T 1521.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=1.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=exonic;Gene=NM_144701;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL23R:NM_144701:exon2:c.G9T:p.Q3H;Gencode=Name\x3eENST00000347310.9,ENST00000371007.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1884444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.3689;1000g2015aug_all=0.530152;esp6500siv2_all=0.5185;ExAC_ALL=0.5285;ExAC_AFR=0.4910;ExAC_AMR=0.3401;ExAC_EAS=0.6498;ExAC_FIN=0.4998;ExAC_NFE=0.5295;ExAC_OTH=0.5176;ExAC_SAS=0.6286;SIFT_score=0.381;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.329;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.955;MutationAssessor_pred=M;FATHMM_score=-1.97;FATHMM_pred=D;phyloP100way_vertebrate=0.735;phyloP20way_mammalian=0.045;SiPhy_29way_logOdds=5.912;gerp++gt2=2.03;CADD=2.109;CADD_Phred=16.92;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1550,140,0 1 67648460 rs6687620 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=intronic;Gene=NM_144701;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371007.6,ENST00000347310.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.928;1000g2015aug_all=0.952077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 67672765 rs7539625 G A 455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.31;DP=45;ExcessHet=3.0103;FS=4.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.645;SOR=1.562;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=intronic;Gene=NM_144701;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371007.6,ENST00000347310.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7539625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.1671;1000g2015aug_all=0.381589;esp6500siv2_all=0.2943;ExAC_ALL=0.3304;ExAC_AFR=0.2904;ExAC_AMR=0.1492;ExAC_EAS=0.5311;ExAC_FIN=0.2506;ExAC_NFE=0.2936;ExAC_OTH=0.3466;ExAC_SAS=0.5571;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:484,0,652 1 67685387 rs7530511 T C 568.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.179;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.162;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=exonic;Gene=NM_144701;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL23R:NM_144701:exon7:c.T929C:p.L310P;Gencode=Name\x3eENST00000425614.3,ENST00000395227.2,ENST00000347310.9,ENST00000371007.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.8501;1000g2015aug_all=0.875998;esp6500siv2_all=0.8340;ExAC_ALL=0.8776;ExAC_AFR=0.7680;ExAC_AMR=0.9220;ExAC_EAS=0.9831;ExAC_FIN=0.8461;ExAC_NFE=0.8626;ExAC_OTH=0.8789;ExAC_SAS=0.9334;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.655;MutationAssessor_pred=N;FATHMM_score=0.61;FATHMM_pred=T;phyloP100way_vertebrate=2.370;phyloP20way_mammalian=0.066;SiPhy_29way_logOdds=10.070;gerp++gt2=4.88;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,23:53:99:597,0,740 1 67705574 rs10789229 C T 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.586;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.882;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=intronic;Gene=NM_144701;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000425614.3,ENST00000395227.2,ENST00000347310.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10789229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.6859;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:198,0,294 1 67705726 rs10889671 A G 383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.626;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.841;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=intronic;Gene=NM_144701;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395227.2,ENST00000347310.9,ENST00000425614.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10889671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.8516;1000g2015aug_all=0.882188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:412,0,667 1 67705900 rs41313262 G A 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.394;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-2.79;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL23R;Func=exonic;Gene=NM_144701;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL23R:NM_144701:exon9:c.G1084A:p.V362I;Gencode=Name\x3eENST00000425614.3,ENST00000395227.2,ENST00000347310.9;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41313262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.006;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0245;1000g2015aug_all=0.00499201;esp6500siv2_all=0.0110;ExAC_ALL=0.0117;ExAC_AFR=0.0026;ExAC_AMR=0.0104;ExAC_EAS=0.0006;ExAC_FIN=0.0020;ExAC_NFE=0.0174;ExAC_OTH=0.0111;ExAC_SAS=0.0049;SIFT_score=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.523;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.37;FATHMM_pred=T;phyloP100way_vertebrate=-0.808;phyloP20way_mammalian=-2.890;SiPhy_29way_logOdds=0.481;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:498,0,522 1 67787715 rs2201584 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=intronic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371000.5,ENST00000262345.5,ENST00000544434.5,ENST00000541374.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2201584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.183;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.196;1000g2015aug_all=0.17472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 67795319 rs1495963 T C 1377.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=exonic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL12RB2:NM_001258215:exon6:c.T714C:p.S238S,IL12RB2:NM_001258216:exon6:c.T714C:p.S238S,IL12RB2:NM_001559:exon6:c.T714C:p.S238S,IL12RB2:NM_001258214:exon7:c.T714C:p.S238S,IL12RB2:NM_001319233:exon7:c.T714C:p.S238S;Gencode=Name\x3eENST00000541374.5,ENST00000544434.5,ENST00000262345.5,ENST00000371000.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1495963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.908;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.9035;1000g2015aug_all=0.85024;esp6500siv2_all=0.9103;ExAC_ALL=0.9317;ExAC_AFR=0.7517;ExAC_AMR=0.8707;ExAC_EAS=0.7884;ExAC_FIN=0.9790;ExAC_NFE=0.9861;ExAC_OTH=0.9383;ExAC_SAS=0.9243;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1406,134,0 1 67817147 rs7535591 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=intronic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371000.5,ENST00000541374.5,ENST00000544434.5,ENST00000262345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.267;1000g2015aug_amr=0.7507;1000g2015aug_all=0.664337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 67852141 rs12138812 A G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-1.831;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=intronic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371000.5,ENST00000544434.5,ENST00000541374.5,ENST00000262345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5843;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.6772;1000g2015aug_all=0.632987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 67852335 rs2228420 G A 1212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.104;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.476;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=exonic;Gene=NM_001258214,NM_001258215,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL12RB2:NM_001258215:exon12:c.G1671A:p.T557T,IL12RB2:NM_001559:exon14:c.G1929A:p.T643T,IL12RB2:NM_001258214:exon15:c.G1929A:p.T643T,IL12RB2:NM_001319233:exon15:c.G1929A:p.T643T;Gencode=Name\x3eENST00000544434.5,ENST00000541374.5,ENST00000262345.5,ENST00000371000.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3442;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.4697;1000g2015aug_all=0.413538;esp6500siv2_all=0.4560;ExAC_ALL=0.5277;ExAC_AFR=0.2248;ExAC_AMR=0.4921;ExAC_EAS=0.3391;ExAC_FIN=0.6899;ExAC_NFE=0.5786;ExAC_OTH=0.5584;ExAC_SAS=0.5700;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,51:102:99:1241,0,1235 1 67852610 rs12724290 C T 152.03 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.38;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=intronic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000371000.5,ENST00000262345.5,ENST00000544434.5,ENST00000541374.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e830\x3bName\x3e"152874:L1ME4a(LINE)";avsnp150=rs12724290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.7046;1000g2015aug_all=0.64996;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:12:180,12,0 1 67856021 rs2270614 A G 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=intronic;Gene=NM_001258214,NM_001258215,NM_001258216,NM_001319233,NM_001559;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262345.5,ENST00000544434.5,ENST00000541374.5,ENST00000371000.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.4683;1000g2015aug_all=0.414137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:108,0,68 1 67861520 rs2229546 C A 1041.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.28;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=1.977;SOR=0.641;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL12RB2;Func=exonic;Gene=NM_001258215,NM_001559;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL12RB2:NM_001258215:exon14:c.C2079A:p.P693P,IL12RB2:NM_001559:exon16:c.C2337A:p.P779P;Gencode=Name\x3eENST00000541374.5,ENST00000544434.5,ENST00000262345.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.675;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.5879;1000g2015aug_all=0.555112;esp6500siv2_all=0.6129;ExAC_ALL=0.6307;ExAC_AFR=0.5100;ExAC_AMR=0.5697;ExAC_EAS=0.3711;ExAC_FIN=0.7455;ExAC_NFE=0.6760;ExAC_OTH=0.6567;ExAC_SAS=0.6546;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,35:74:99:1070,0,1183 1 67945956 rs7516789 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e49833\x3bdist\x3e204904;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1666\x3bName\x3e"153086:AluJb(SINE)";avsnp150=rs7516789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.938;1000g2015aug_all=0.867212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 67948113 rs11209081 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e51990\x3bdist\x3e202747;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11209081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.5504;1000g2015aug_all=0.549521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 67978529 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e82406\x3bdist\x3e172331;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2090\x3bName\x3e"153188:AluSp(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 68012753 rs34714010 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e116630\x3bdist\x3e138107;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32\x3bName\x3e"153304:(CTC)n(Simple_repeat)";avsnp150=rs34714010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.2565;1000g2015aug_all=0.226637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 68012837 rs4655728 T C 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e116714\x3bdist\x3e138023;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e372\x3bName\x3e"153305:L1MA10(LINE)";avsnp150=rs4655728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.9928;1000g2015aug_all=0.977037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 68012875 rs72939109 T C 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e116752\x3bdist\x3e137985;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e372\x3bName\x3e"153305:L1MA10(LINE)";avsnp150=rs72939109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.2565;1000g2015aug_all=0.226637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 68023487 rs12027161 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e127364\x3bdist\x3e127373;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e429\x3bName\x3e"153335:L3(LINE)";avsnp150=rs12027161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.634;1000g2015aug_all=0.528754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 68126096 rs182943 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015640,NM_001199741;GeneDetail=dist\x3e229973\x3bdist\x3e24764;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.89604\x3bName\x3echr14:21210569;Repeat=.;avsnp150=rs182943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.7075;1000g2015aug_all=0.635982;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 68151980 rs2759219 T G 2356.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=2.231;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGADD45A;Func=intronic;Gene=NM_001199741,NM_001199742,NM_001924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370986.8,ENST00000617962.1,ENST00000370985.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.8069;1000g2015aug_all=0.748003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2385,192,0 1 68152363 rs3783468 G A 846.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=6.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGADD45A;Func=intronic;Gene=NM_001199741,NM_001199742,NM_001924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617962.1,ENST00000370985.3,ENST00000370986.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3783468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.4971;1000g2015aug_all=0.420327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:875,63,0 1 68152388 rs681673 T C 681.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGADD45A;Func=intronic;Gene=NM_001199741,NM_001199742,NM_001924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370986.8,ENST00000617962.1,ENST00000370985.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs681673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.67;1000g2015aug_all=0.58746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:710,51,0 1 68152438 rs532446 C T 261.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGADD45A;Func=intronic;Gene=NM_001199741,NM_001199742,NM_001924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617962.1,ENST00000370985.3,ENST00000370986.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.67;1000g2015aug_all=0.58746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 1 68172498 rs787254 G A 43.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12;Func=intronic;Gene=NM_018841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370982.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2493\x3bName\x3e"153684:AluSp(SINE)";avsnp150=rs787254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.673;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.7147;1000g2015aug_all=0.676518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 1 68173264 rs2295942 C T 4154.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=0.806;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12;Func=intronic;Gene=NM_018841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370982.3;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.592;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.4885;1000g2015aug_all=0.413738;esp6500siv2_all=0.4356;ExAC_ALL=0.5066;ExAC_AFR=0.2189;ExAC_AMR=0.5949;ExAC_EAS=0.4377;ExAC_FIN=0.5150;ExAC_NFE=0.5258;ExAC_OTH=0.5055;ExAC_SAS=0.5813;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,129:129:99:4183,386,0 1 68513177 rs540567605 C T 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.58;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.469;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIRAS3,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000395201.1,ENST00000420587.5,ENST00000413628.5,ENST00000370981.1;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs540567605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:181,0,399 1 68593131 rs4655776 C G 263.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12-AS1,WLS;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262348.8,ENST00000354777.6,ENST00000413628.5,ENST00000420587.5,ENST00000370976.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.5648;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 68603432 rs1430754 C T 955.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12-AS1,WLS;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262348.8,ENST00000354777.6,ENST00000370976.7,ENST00000413628.5,ENST00000420587.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1430754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.1931;1000g2015aug_all=0.0942492;esp6500siv2_all=0.1421;ExAC_ALL=0.1572;ExAC_AFR=0.0495;ExAC_AMR=0.2048;ExAC_EAS=0.0003;ExAC_FIN=0.1769;ExAC_NFE=0.1833;ExAC_OTH=0.1803;ExAC_SAS=0.1598;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:984,78,0 1 68603586 rs983034 C T 1739.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12-AS1,WLS;Func=exonic;Gene=NM_001002292,NM_001193334,NM_024911;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WLS:NM_001193334:exon10:c.G1120A:p.V374I,WLS:NM_001002292:exon11:c.G1387A:p.V463I,WLS:NM_024911:exon11:c.G1393A:p.V465I;Gencode=Name\x3eENST00000420587.5,ENST00000413628.5,ENST00000370976.7,ENST00000354777.6,ENST00000262348.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs983034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1419;1000g2015aug_sas=0.32;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.3372;1000g2015aug_all=0.236621;esp6500siv2_all=0.3122;ExAC_ALL=0.3451;ExAC_AFR=0.1421;ExAC_AMR=0.4171;ExAC_EAS=0.1421;ExAC_FIN=0.3265;ExAC_NFE=0.3886;ExAC_OTH=0.3645;ExAC_SAS=0.3597;SIFT_score=0.663;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.019;LRT_pred=N;MutationTaster_score=0.776;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=0.861;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=6.427;gerp++gt2=4.55;CADD=3.094;CADD_Phred=22.5;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1768,159,0 1 68603731 rs1831297 A G 511.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262348.8,ENST00000354777.6,ENST00000413628.5,ENST00000420587.5,ENST00000370976.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1831297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.7118;1000g2015aug_all=0.590256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:540,51,0 1 68611317 rs2772313 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370976.7,ENST00000420587.5,ENST00000413628.5,ENST00000354777.6,ENST00000262348.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2772313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.9971;1000g2015aug_all=0.995407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 68613579 rs9970306 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12-AS1,WLS;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262348.8,ENST00000354777.6,ENST00000413628.5,ENST00000420587.5,ENST00000370976.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.3646;1000g2015aug_all=0.257388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 68614013 rs2566789 A G 1285.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG12-AS1,WLS;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370976.7,ENST00000413628.5,ENST00000420587.5,ENST00000262348.8,ENST00000354777.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2566789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.999;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.9928;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1314,111,0 1 68619602 rs17482018 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370976.7,ENST00000420587.5,ENST00000413628.5,ENST00000354777.6,ENST00000262348.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17482018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.1974;1000g2015aug_all=0.0948482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 68620762 rs3762371 G A 848.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370976.7,ENST00000413628.5,ENST00000420587.5,ENST00000262348.8,ENST00000354777.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.366;1000g2015aug_all=0.26258;esp6500siv2_all=0.3510;ExAC_ALL=0.3640;ExAC_AFR=0.2009;ExAC_AMR=0.4400;ExAC_EAS=0.1572;ExAC_FIN=0.3072;ExAC_NFE=0.4148;ExAC_OTH=0.3663;ExAC_SAS=0.3381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:877,81,0 1 68627692 rs12029634 G T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262348.8,ENST00000354777.6,ENST00000413628.5,ENST00000420587.5,ENST00000370976.7;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.942803\x3bName\x3echr5:98576338;Repeat=.;avsnp150=rs12029634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.8141;1000g2015aug_all=0.597244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 68628201 rs1808599 C T 2861.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWLS,GNG12-AS1;Func=ncRNA_intronic;Gene=NR_040077;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370976.7,ENST00000420587.5,ENST00000413628.5,ENST00000354777.6,ENST00000262348.8;cytoBand=1p31.3;wgRna=.;genomicSuperDups=Score\x3e0.942803\x3bName\x3echr5:98576338;Repeat=.;avsnp150=rs1808599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.8199;1000g2015aug_all=0.614617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2890,258,0 1 68750351 rs116513606 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024911,NM_000329;GeneDetail=dist\x3e52067\x3bdist\x3e144156;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116513606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=.;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00459265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 68830962 rs12143083 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024911,NM_000329;GeneDetail=dist\x3e132678\x3bdist\x3e63545;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2590\x3bName\x3e"154984:MER21B(LTR)";avsnp150=rs12143083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.093;1000g2015aug_amr=0.3977;1000g2015aug_all=0.263778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 68830967 rs6684329 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024911,NM_000329;GeneDetail=dist\x3e132683\x3bdist\x3e63540;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2590\x3bName\x3e"154984:MER21B(LTR)";avsnp150=rs6684329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9682;1000g2015aug_amr=0.9942;1000g2015aug_all=0.990815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 68883761 rs9436834 C G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024911,NM_000329;GeneDetail=dist\x3e185477\x3bdist\x3e10746;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9436834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.4135;1000g2015aug_all=0.404752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 68883918 rs3125886 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.61;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024911,NM_000329;GeneDetail=dist\x3e185634\x3bdist\x3e10589;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2554\x3bName\x3e"155099:AluYh3(SINE)";avsnp150=rs3125886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.167;1000g2015aug_afr=0.202;1000g2015aug_amr=0.245;1000g2015aug_all=0.191494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 68896644 rs932783 G A 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=23;ExcessHet=3.0103;FS=4.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=3.563;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPE65;Func=intronic;Gene=NM_000329;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262340.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.745;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.621;1000g2015aug_amr=0.4481;1000g2015aug_all=0.563099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:307,0,516 1 68905358 rs1925955 G C 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.624;SOR=1.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPE65;Func=intronic;Gene=NM_000329;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262340.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925955;cosmic70=.;CLNALLELEID=250012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.857;1000g2015aug_amr=0.6715;1000g2015aug_all=0.69349;esp6500siv2_all=0.5189;ExAC_ALL=0.5272;ExAC_AFR=0.7930;ExAC_AMR=0.7330;ExAC_EAS=0.8806;ExAC_FIN=0.4259;ExAC_NFE=0.3963;ExAC_OTH=0.4768;ExAC_SAS=0.6015;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:258,0,276 1 68912755 rs2012235 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPE65;Func=intronic;Gene=NM_000329;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262340.5;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2012235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.4611;1000g2015aug_all=0.495008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 68929759 rs11809857 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000329,NM_017779;GeneDetail=dist\x3e14117\x3bdist\x3e10076;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2102\x3bName\x3e"155176:AluSx(SINE)";avsnp150=rs11809857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3084;1000g2015aug_all=0.251797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 68943665 rs12119046 T G 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.135;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDEPDC1;Func=intronic;Gene=NM_001114120,NM_017779;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370966.9,ENST00000456315.6;cytoBand=1p31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12119046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.323;1000g2015aug_amr=0.3098;1000g2015aug_all=0.26877;esp6500siv2_all=0.3967;ExAC_ALL=0.3361;ExAC_AFR=0.3356;ExAC_AMR=0.2101;ExAC_EAS=0.0324;ExAC_FIN=0.2842;ExAC_NFE=0.4113;ExAC_OTH=0.3503;ExAC_SAS=0.2964;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:184,0,184 1 69008689 rs2419646 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110671,NR_146608;GeneDetail=dist\x3e4379\x3bdist\x3e512892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2419646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.3285;1000g2015aug_all=0.328474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 69451489 rs2842056 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110671,NR_146608;GeneDetail=dist\x3e447179\x3bdist\x3e70092;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8794\x3bName\x3e"156054:L1PA8(LINE)";avsnp150=rs2842056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.9986;1000g2015aug_all=0.993411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 69558080 rs3123013 T C 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_146608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000425517.1;cytoBand=1p31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6218\x3bName\x3e"156229:MER31-int(LTR)";avsnp150=rs3123013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.8184;1000g2015aug_all=0.853834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 69805111 rs2612250 A G 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146608,NR_147164;GeneDetail=dist\x3e154426\x3bdist\x3e93827;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2345\x3bName\x3e"156679:THE1B(LTR)";avsnp150=rs2612250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9629;1000g2015aug_amr=1;1000g2015aug_all=0.990216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 69849082 rs538196 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146608,NR_147164;GeneDetail=dist\x3e198397\x3bdist\x3e49856;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10761\x3bName\x3e"156747:THE1B-int(LTR)";avsnp150=rs538196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.6239;1000g2015aug_all=0.629992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 69899166 rs10736412 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_147164;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448001.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e575\x3bName\x3e"156821:MLT1I(LTR)";avsnp150=rs10736412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8262;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.975;1000g2015aug_amr=0.7925;1000g2015aug_all=0.887181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 70034052 rs113503963 C T 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.709;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=UTR5;Gene=NM_001330635;GeneDetail=NM_001330635:c.-147849C>T;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113503963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1369;1000g2015aug_all=0.0786741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:173,0,256 1 70190619 rs34148350 C A 47.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001330635,NM_001350216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370958.5,ENST00000310961.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34148350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.1066;1000g2015aug_all=0.0866613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:75,6,0 1 70364260 rs1913272 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=1.501;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC7;Func=intronic;Gene=NM_001330635,NM_001350216,NM_020794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310961.9,ENST00000415775.2,ENST00000035383.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1913272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.4323;1000g2015aug_all=0.375799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 70386022 rs6687846 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC7;Func=intronic;Gene=NM_001330635,NM_001350216,NM_020794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000035383.9,ENST00000310961.9,ENST00000415775.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.4366;1000g2015aug_all=0.386581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 70397087 rs7530457 T C 741.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.669;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.242;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC7;Func=intronic;Gene=NM_001330635,NM_001350216,NM_020794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000035383.9,ENST00000415775.2,ENST00000310961.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.5216;1000g2015aug_all=0.563498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,26:73:99:770,0,1335 1 70405236 rs2025896 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC7;Func=intronic;Gene=NM_001330635,NM_001350216,NM_020794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310961.9,ENST00000415775.2,ENST00000035383.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e385\x3bName\x3e"157631:LTR50(LTR)";avsnp150=rs2025896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.4323;1000g2015aug_all=0.364217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 70587360 rs641909 C T 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.4;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.786;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC7;Func=intronic;Gene=NM_001330635,NM_001350216,NM_020794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415775.2,ENST00000310961.9,ENST00000035383.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs641909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.7277;1000g2015aug_all=0.735224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:154,0,139 1 70687666 rs1051805186 T C 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.065;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=0.337;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRSF11;Func=UTR5;Gene=NM_001350615;GeneDetail=NM_001350615:c.-13548T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370951.5,ENST00000370950.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051805186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,21:34:99:668,0,441 1 70883840 rs1145920 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTH;Func=intronic;Gene=NM_001190463,NM_001902,NM_153742;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370938.7,ENST00000346806.2,ENST00000411986.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1145920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.8833;1000g2015aug_all=0.798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 70887099 rs672203 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTH;Func=intronic;Gene=NM_001190463,NM_001902,NM_153742;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370938.7,ENST00000411986.6,ENST00000346806.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs672203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAdverse_response_to_chemotherapy_in_breast_cancer_(alopecia)_(cyclophosphamide+doxorubicin+/-5FU);1000g2015aug_eas=0.2371;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.2378;1000g2015aug_all=0.294129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 70900624 rs475263 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTH;Func=intronic;Gene=NM_001190463,NM_001902,NM_153742;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370938.7,ENST00000346806.2,ENST00000411986.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2123\x3bName\x3e"158531:AluSx(SINE)";avsnp150=rs475263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.8746;1000g2015aug_all=0.77496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 70904800 rs1021737 G T 860.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.036;DP=72;ExcessHet=3.0103;FS=3.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.472;SOR=1.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTH;Func=exonic;Gene=NM_001190463,NM_001902,NM_153742;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CTH:NM_001190463:exon11:c.G1112T:p.S371I,CTH:NM_153742:exon11:c.G1076T:p.S359I,CTH:NM_001902:exon12:c.G1208T:p.S403I;Gencode=Name\x3eENST00000370938.7,ENST00000411986.6,ENST00000346806.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1021737;cosmic70=.;CLNALLELEID=17980;CLNDN=Cystathioninuria|Homocysteine,_total_plasma,_elevated;CLNDISDB=MedGen:C0220993,OMIM:219500,Orphanet:ORPHA212,SNOMED_CT:13003007|MedGen:C4017108;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.3703;1000g2015aug_all=0.205272;esp6500siv2_all=0.2378;ExAC_ALL=0.2770;ExAC_AFR=0.0992;ExAC_AMR=0.4607;ExAC_EAS=0.2130;ExAC_FIN=0.2942;ExAC_NFE=0.2898;ExAC_OTH=0.2478;ExAC_SAS=0.2369;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.232;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.102;Polyphen2_HVAR_pred=B;LRT_score=0.335;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-0.65;FATHMM_pred=T;phyloP100way_vertebrate=0.084;phyloP20way_mammalian=0.127;SiPhy_29way_logOdds=6.440;gerp++gt2=.;CADD=1.693;CADD_Phred=14.37;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,37:71:99:889,0,798 1 71328234 rs7533733 A G 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.8;ReadPosRankSum=0.071;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_198714,NM_198716,NM_198717;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000460330.5,ENST00000370931.7,ENST00000628037.2,ENST00000370932.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.572;1000g2015aug_all=0.606829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,12:21:99:423,0,306 1 71331220 rs12119442 G A 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_198714,NM_198716,NM_198717;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370932.6,ENST00000628037.2,ENST00000370931.7,ENST00000460330.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12119442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.1124;1000g2015aug_all=0.140775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:192,0,408 1 71331498 rs1409986 A G 2205.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=1.946;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_198714,NM_198716,NM_198717;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628037.2,ENST00000370931.7,ENST00000460330.5,ENST00000370932.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1409986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9654;1000g2015aug_all=0.973442;esp6500siv2_all=0.9397;ExAC_ALL=0.9413;ExAC_AFR=0.9839;ExAC_AMR=0.9727;ExAC_EAS=0.9999;ExAC_FIN=0.8959;ExAC_NFE=0.9187;ExAC_OTH=0.9284;ExAC_SAS=0.9719;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2234,201,0 1 71334870 rs1536537 C T 2132.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.117;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_198714,NM_198716,NM_198717;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370932.6,ENST00000460330.5,ENST00000370931.7,ENST00000628037.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1016\x3bName\x3e"159332:MSTA(LTR)";avsnp150=rs1536537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.211;1000g2015aug_amr=0.3674;1000g2015aug_all=0.28155;esp6500siv2_all=0.3890;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2161,213,0 1 71363821 rs1325948 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_198714,NM_198716,NM_198717;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370932.6,ENST00000370931.7,ENST00000628037.2,ENST00000460330.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1325948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.8867;1000g2015aug_afr=0.9697;1000g2015aug_amr=0.951;1000g2015aug_all=0.958666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 71419499 rs571705 C T 129.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.18;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.241;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGER3;Func=intronic;Gene=NM_001126044,NM_198714,NM_198716,NM_198717,NM_198718;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370932.6,ENST00000356595.8,ENST00000460330.5,ENST00000370931.7,ENST00000628037.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e241\x3bName\x3e"159484:MIR(SINE)";avsnp150=rs571705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.8977;1000g2015aug_all=0.867812;esp6500siv2_all=0.8355;ExAC_ALL=0.8551;ExAC_AFR=0.8269;ExAC_AMR=0.8802;ExAC_EAS=0.9384;ExAC_FIN=0.8571;ExAC_NFE=0.8500;ExAC_OTH=0.9237;ExAC_SAS=0.8777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:99:158,0,99 1 71823924 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046217,NM_173808;GeneDetail=dist\x3e120518\x3bdist\x3e44701;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000583678.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5554\x3bName\x3e"160173:L1P4d(LINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 71823940 rs11209773 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046217,NM_173808;GeneDetail=dist\x3e120534\x3bdist\x3e44685;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000583678.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5554\x3bName\x3e"160173:L1P4d(LINE)";avsnp150=rs11209773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.3746;1000g2015aug_all=0.263379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 72058367 rs1334004 C T 225.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434200.5,ENST00000357731.9,ENST00000306821.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.928;1000g2015aug_all=0.84984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:254,24,0 1 72058405 rs1334005 T C 741.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357731.9,ENST00000434200.5,ENST00000306821.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.928;1000g2015aug_all=0.84984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:770,63,0 1 72058552 rs1413368 G A 1919.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=exonic;Gene=NM_173808;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NEGR1:NM_173808:exon6:c.C888T:p.T296T;Gencode=Name\x3eENST00000306821.3,ENST00000434200.5,ENST00000357731.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1413368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.928;1000g2015aug_all=0.849641;esp6500siv2_all=0.8967;ExAC_ALL=0.9433;ExAC_AFR=0.6864;ExAC_AMR=0.9309;ExAC_EAS=0.8724;ExAC_FIN=0.9968;ExAC_NFE=0.9973;ExAC_OTH=0.9659;ExAC_SAS=0.9104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:1948,192,0 1 72058775 rs1413369 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306821.3,ENST00000434200.5,ENST00000357731.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1413369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.928;1000g2015aug_all=0.84984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 72230570 rs11209837 T A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357731.9,ENST00000434200.5,ENST00000306821.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9197\x3bName\x3e"160807:HSMAR1(DNA)";avsnp150=rs11209837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.879;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.83;1000g2015aug_all=0.74381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 72242039 rs6424448 G A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306821.3,ENST00000357731.9,ENST00000434200.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.879;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.8415;1000g2015aug_all=0.748403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 72740634 rs7549792 G A 523.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEGR1;Func=intronic;Gene=NM_173808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357731.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.3775;1000g2015aug_all=0.396565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:552,54,0 1 72780662 rs61767379 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e32385\x3bdist\x3e991191;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e42781\x3bName\x3e"161638:HERVL-int(LTR)";avsnp150=rs61767379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.0828;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.1311;1000g2015aug_all=0.134984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 72992758 rs1775369 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e244481\x3bdist\x3e779095;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1775369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.2795;1000g2015aug_all=0.222045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 72992761 rs1664387 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e244484\x3bdist\x3e779092;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1664387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.2795;1000g2015aug_all=0.209265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 73571338 rs4650186 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e823061\x3bdist\x3e200515;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4650186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 73618140 rs4353042 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e869863\x3bdist\x3e153713;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9291\x3bName\x3e"162877:THE1C-int(LTR)";avsnp150=rs4353042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.9697;1000g2015aug_all=0.919529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 73618176 rs11210144 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173808,NR_110677;GeneDetail=dist\x3e869899\x3bdist\x3e153677;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9291\x3bName\x3e"162877:THE1C-int(LTR)";avsnp150=rs11210144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.6505;1000g2015aug_amr=0.4251;1000g2015aug_all=0.603834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 73836769 rs12034860 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110676,NR_146300;GeneDetail=dist\x3e32209\x3bdist\x3e303593;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2639\x3bName\x3e"163232:AluYm1(SINE)";avsnp150=rs12034860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.4078;1000g2015aug_all=0.608826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 73910157 rs12747728 G T 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110676,NR_146300;GeneDetail=dist\x3e105597\x3bdist\x3e230205;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1028\x3bName\x3e"163366:MER44A(DNA)";avsnp150=rs12747728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.3487;1000g2015aug_all=0.510583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 73912799 rs11210251 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110676,NR_146300;GeneDetail=dist\x3e108239\x3bdist\x3e227563;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1971\x3bName\x3e"163370:MSTA(LTR)";avsnp150=rs11210251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.547;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.3501;1000g2015aug_all=0.511182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 74016652 rs1604348 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110676,NR_146300;GeneDetail=dist\x3e212092\x3bdist\x3e123710;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1616\x3bName\x3e"163515:THE1B(LTR)";avsnp150=rs1604348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.506;1000g2015aug_afr=0.3396;1000g2015aug_amr=0.4006;1000g2015aug_all=0.526757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 74507711 rs7538410 T G 135.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=intronic;Gene=NM_001105659,NM_001322315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354431.8,ENST00000395089.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.8948;1000g2015aug_all=0.836661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:163,12,0 1 74575182 rs1340472 C T 862.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=exonic;Gene=NM_001105659,NM_001322315;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRIQ3:NM_001105659:exon5:c.G763A:p.A255T,LRRIQ3:NM_001322315:exon5:c.G763A:p.A255T;Gencode=Name\x3eENST00000354431.8,ENST00000395089.5,ENST00000370909.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.9085;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.8876;1000g2015aug_all=0.804912;esp6500siv2_all=0.8226;ExAC_ALL=0.8853;ExAC_AFR=0.5709;ExAC_AMR=0.8775;ExAC_EAS=0.9674;ExAC_FIN=0.8483;ExAC_NFE=0.9196;ExAC_OTH=0.9045;ExAC_SAS=0.9098;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=3.23;FATHMM_pred=T;phyloP100way_vertebrate=-1.794;phyloP20way_mammalian=0.118;SiPhy_29way_logOdds=2.849;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:891,81,0 1 74642959 rs12042613 C T 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=intronic;Gene=NM_001105659,NM_001322315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370909.6,ENST00000395089.5,ENST00000354431.8;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1807\x3bName\x3e"164493:MLT2A1(LTR)";avsnp150=rs12042613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.3602;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 74646514 rs6701961 C T 586.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=intronic;Gene=NM_001105659,NM_001322315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370909.6,ENST00000395089.5,ENST00000370911.7,ENST00000354431.8;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9986;1000g2015aug_all=0.997804;esp6500siv2_all=0.9980;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:615,54,0 1 74663709 rs11806946 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=UTR5;Gene=NM_001105659,NM_001322315;GeneDetail=NM_001105659:c.-14341C>T\x3bNM_001322315:c.-14341C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354431.8,ENST00000370911.7,ENST00000370909.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11806946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.389;1000g2015aug_all=0.444489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 74663814 rs1412825 C G 790.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.799;DP=43;ExcessHet=3.0103;FS=3.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=0.609;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRIQ3;Func=UTR5;Gene=NM_001105659,NM_001322315;GeneDetail=NM_001105659:c.-14446G>C\x3bNM_001322315:c.-14446G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370911.7,ENST00000370909.6,ENST00000354431.8;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1412825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.389;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,23:43:99:819,0,671 1 74664149 rs4422957 T C 2078.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.291;DP=157;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.544;SOR=0.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557284.6,ENST00000482102.2,ENST00000370895.5,ENST00000534056.5,ENST00000370898.7,ENST00000370894.9,ENST00000370899.7,ENST00000467578.6,ENST00000370893.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4422957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.389;1000g2015aug_all=0.444688;esp6500siv2_all=.;ExAC_ALL=0.5112;ExAC_AFR=0.2277;ExAC_AMR=0.5078;ExAC_EAS=0.7752;ExAC_FIN=0.524;ExAC_NFE=0.5148;ExAC_OTH=0.6066;ExAC_SAS=0.565;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,77:157:99:2107,0,2244 1 74665493 rs792310 G A 969.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.197;DP=101;ExcessHet=3.0103;FS=3.902;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.218;SOR=1.162;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT,FPGT-TNNI3K;Func=exonic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V;Gencode=Name\x3eENST00000370893.1,ENST00000467578.6,ENST00000370899.7,ENST00000370894.9,ENST00000370898.7,ENST00000534056.5,ENST00000370895.5,ENST00000557284.6,ENST00000482102.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs792310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.389;1000g2015aug_all=0.446685;esp6500siv2_all=0.3969;ExAC_ALL=0.4794;ExAC_AFR=0.2126;ExAC_AMR=0.4536;ExAC_EAS=0.7391;ExAC_FIN=0.4802;ExAC_NFE=0.4720;ExAC_OTH=0.5308;ExAC_SAS=0.5554;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,40:100:99:998,0,1624 1 74665742 rs526736 A T 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.967;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,FPGT;Func=intronic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370894.9,ENST00000370899.7,ENST00000467578.6,ENST00000370893.1,ENST00000557284.6,ENST00000482102.2,ENST00000370895.5,ENST00000370898.7,ENST00000534056.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs526736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.389;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 74666507 rs9804006 T C 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.732;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-0.105;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370893.1,ENST00000467578.6,ENST00000370899.7,ENST00000370894.9,ENST00000534056.5,ENST00000370898.7,ENST00000370895.5,ENST00000482102.2,ENST00000557284.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e439\x3bName\x3e"164530:MIR(SINE)";avsnp150=rs9804006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.183;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.428;1000g2015aug_all=0.236422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,182 1 74669911 rs9425023 T C 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=0.566;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467578.6,ENST00000370899.7,ENST00000370894.9,ENST00000370893.1,ENST00000370895.5,ENST00000482102.2,ENST00000557284.6,ENST00000534056.5,ENST00000370898.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9425023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.389;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:173,0,89 1 74669973 rs9425024 T G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,FPGT;Func=intronic;Gene=NM_001112808,NM_001199327,NM_001199328,NM_001199329,NM_003838;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370893.1,ENST00000370899.7,ENST00000370894.9,ENST00000467578.6,ENST00000534056.5,ENST00000370898.7,ENST00000370895.5,ENST00000557284.6,ENST00000482102.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9425024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.8963;1000g2015aug_all=0.832069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 74670172 rs12046751 A G 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.325;DP=45;ExcessHet=3.0103;FS=2.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.353;SOR=0.993;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT,FPGT-TNNI3K;Func=exonic;Gene=NM_003838;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FPGT:NM_003838:exon4:c.A480G:p.K160K;Gencode=Name\x3eENST00000557284.6,ENST00000482102.2,ENST00000370895.5,ENST00000370898.7,ENST00000534056.5,ENST00000467578.6,ENST00000370894.9,ENST00000370899.7,ENST00000370893.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12046751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.184;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.428;1000g2015aug_all=0.236821;esp6500siv2_all=0.3310;ExAC_ALL=0.3352;ExAC_AFR=0.1778;ExAC_AMR=0.3631;ExAC_EAS=0.1497;ExAC_FIN=0.3302;ExAC_NFE=0.4077;ExAC_OTH=0.3267;ExAC_SAS=0.2215;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,24:45:99:663,0,540 1 74699331 rs492302 C G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370895.5,ENST00000557284.6,ENST00000370899.7,ENST00000370893.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs492302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.152;1000g2015aug_amr=0.3746;1000g2015aug_all=0.42492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 74701295 rs505508 T A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370893.1,ENST00000370899.7,ENST00000326637.7,ENST00000370895.5,ENST00000557284.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs505508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9928;1000g2015aug_all=0.976837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 74701950 rs532221 T A 89.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370895.5,ENST00000557284.6,ENST00000370899.7,ENST00000326637.7,ENST00000370893.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.2997;1000g2015aug_all=0.351837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:118,0,27 1 74737081 rs514012 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370899.7,ENST00000326637.7,ENST00000370895.5,ENST00000557284.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs514012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.1513;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 74819077 rs6424586 T G 2558.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370899.7,ENST00000326637.7,ENST00000415549.2,ENST00000370895.5,ENST00000557284.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.938;1000g2015aug_all=0.939097;esp6500siv2_all=0.9219;ExAC_ALL=0.9429;ExAC_AFR=0.8883;ExAC_AMR=0.9297;ExAC_EAS=0.9981;ExAC_FIN=0.9186;ExAC_NFE=0.9439;ExAC_OTH=0.9364;ExAC_SAS=0.9637;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2587,243,0 1 74841173 rs2880795 A C 2257.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.56;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_001199327,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415549.2,ENST00000370895.5,ENST00000557284.6,ENST00000370899.7,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2991\x3bName\x3e"164806:LTR8(LTR)";avsnp150=rs2880795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9894;1000g2015aug_amr=1;1000g2015aug_all=0.997204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2286,192,0 1 74936374 rs596204 A G 927.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.72;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294635.4,ENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs596204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.7262;1000g2015aug_all=0.760982;esp6500siv2_all=.;ExAC_ALL=0.8333;ExAC_AFR=1;ExAC_AMR=.;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.5;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.48;FATHMM_pred=T;phyloP100way_vertebrate=-0.346;phyloP20way_mammalian=-0.198;SiPhy_29way_logOdds=8.657;gerp++gt2=2.08;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:956,72,0 1 74936454 rs491922 G C 1161.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294635.4,ENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs491922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.6729;1000g2015aug_all=0.576478;esp6500siv2_all=.;ExAC_ALL=0.8889;ExAC_AFR=1;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.8571;ExAC_OTH=1;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.5;FATHMM_pred=T;phyloP100way_vertebrate=-0.451;phyloP20way_mammalian=0.998;SiPhy_29way_logOdds=6.968;gerp++gt2=.;CADD=1.444;CADD_Phred=13.02;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1190,99,0 1 74937749 rs3765674 A G 2777.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294635.4,ENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.6729;1000g2015aug_all=0.576877;esp6500siv2_all=.;ExAC_ALL=0.5861;ExAC_AFR=0.5523;ExAC_AMR=0.6656;ExAC_EAS=0.6980;ExAC_FIN=0.5988;ExAC_NFE=0.5757;ExAC_OTH=0.5896;ExAC_SAS=0.5861;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2806,261,0 1 74941210 rs648614 C T 2868.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557284.6,ENST00000294635.4,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs648614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.6729;1000g2015aug_all=0.575479;esp6500siv2_all=.;ExAC_ALL=0.5783;ExAC_AFR=0.5446;ExAC_AMR=0.6635;ExAC_EAS=0.6926;ExAC_FIN=0.5996;ExAC_NFE=0.5700;ExAC_OTH=0.5802;ExAC_SAS=0.5745;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.080;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.81;FATHMM_pred=T;phyloP100way_vertebrate=-2.095;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=11.657;gerp++gt2=.;CADD=2.525;CADD_Phred=19.63;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2897,249,0 1 74941293 rs649058 G A 3682.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=0.762;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294635.4,ENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs649058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.7262;1000g2015aug_all=0.760783;esp6500siv2_all=.;ExAC_ALL=0.6540;ExAC_AFR=0.9078;ExAC_AMR=0.74;ExAC_EAS=0.8760;ExAC_FIN=0.6199;ExAC_NFE=0.5835;ExAC_OTH=0.6509;ExAC_SAS=0.6623;SIFT_score=0.294;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.301;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.93;FATHMM_pred=T;phyloP100way_vertebrate=0.674;phyloP20way_mammalian=-0.294;SiPhy_29way_logOdds=2.75;gerp++gt2=3.07;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3711,352,0 1 74948740 rs274584 C T 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557284.6,ENST00000294635.4,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs274584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.5994;1000g2015aug_all=0.445088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 75005776 rs6656785 A G 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.405;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.4986;1000g2015aug_all=0.38738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,208 1 75006027 rs3895907 A G 395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.09;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.961;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI3K,FPGT-TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000557284.6,ENST00000326637.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3895907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.411;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.3847;1000g2015aug_all=0.324481;esp6500siv2_all=0.4446;ExAC_ALL=0.4555;ExAC_AFR=0.2186;ExAC_AMR=0.3397;ExAC_EAS=0.1557;ExAC_FIN=0.4781;ExAC_NFE=0.5609;ExAC_OTH=0.4487;ExAC_SAS=0.4036;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,17:37:99:424,0,514 1 75006076 rs3845348 G A 735.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFPGT-TNNI3K,TNNI3K;Func=intronic;Gene=NM_001112808,NM_015978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326637.7,ENST00000557284.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3845348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9642;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9597;1000g2015aug_all=0.916334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:764,72,0 1 75036783 rs9326115 T C 2494.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.194;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3;Func=UTR3;Gene=NM_001002912;GeneDetail=NM_001002912:c.*18A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326665.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9326115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9971;1000g2015aug_all=0.97504;esp6500siv2_all=0.9723;ExAC_ALL=0.9917;ExAC_AFR=0.9087;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9944;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2523,228,0 1 75036812 rs9326116 C T 2737.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=0.872;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3;Func=exonic;Gene=NM_001002912;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ERICH3:NM_001002912:exon14:c.G4582A:p.V1528M;Gencode=Name\x3eENST00000326665.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9326116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9957;1000g2015aug_all=0.97484;esp6500siv2_all=0.9722;ExAC_ALL=0.9918;ExAC_AFR=0.9087;ExAC_AMR=0.9969;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9945;ExAC_SAS=0.9999;SIFT_score=0.416;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.5;FATHMM_pred=T;phyloP100way_vertebrate=-0.707;phyloP20way_mammalian=-2.509;SiPhy_29way_logOdds=5.253;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2766,249,0 1 75072264 rs41289216 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3,ERICH3-AS1;Func=ncRNA_intronic;Gene=NR_121670,NR_121671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326665.9,ENST00000612390.4,ENST00000420661.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41289216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.501;1000g2015aug_afr=0.233;1000g2015aug_amr=0.4524;1000g2015aug_all=0.316294;esp6500siv2_all=0.4331;ExAC_ALL=0.4290;ExAC_AFR=0.2682;ExAC_AMR=0.4350;ExAC_EAS=0.1420;ExAC_FIN=0.3901;ExAC_NFE=0.5014;ExAC_OTH=0.4365;ExAC_SAS=0.3963;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 75086665 rs10493546 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.17;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3-AS1,ERICH3;Func=ncRNA_intronic;Gene=NR_121670,NR_121671;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612390.4,ENST00000326665.9,ENST00000420661.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.503;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.4827;1000g2015aug_all=0.382588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 75097426 rs11210490 G C 2355.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3;Func=exonic;Gene=NM_001002912;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ERICH3:NM_001002912:exon7:c.C790G:p.P264A;Gencode=Name\x3eENST00000420661.6,ENST00000326665.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11210490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.4741;1000g2015aug_all=0.320887;esp6500siv2_all=0.4550;ExAC_ALL=0.4339;ExAC_AFR=0.2884;ExAC_AMR=0.4528;ExAC_EAS=0.1351;ExAC_FIN=0.4112;ExAC_NFE=0.5155;ExAC_OTH=0.4404;ExAC_SAS=0.3481;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=0.944;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.572;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.043;MutationTaster_pred=P;MutationAssessor_score=2.615;MutationAssessor_pred=M;FATHMM_score=2.43;FATHMM_pred=T;phyloP100way_vertebrate=2.680;phyloP20way_mammalian=0.142;SiPhy_29way_logOdds=9.857;gerp++gt2=3.49;CADD=1.841;CADD_Phred=15.23;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2384,225,0 1 75100640 rs12127070 A G 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3;Func=intronic;Gene=NM_001002912;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326665.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e895\x3bName\x3e"165214:MamRep605(LTR?)";avsnp150=rs12127070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1121;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.4755;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 75108863 rs623171 A C 369.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.41;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERICH3;Func=intronic;Gene=NM_001002912;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326665.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.7061;1000g2015aug_all=0.674521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:398,42,0 1 75172001 rs7527057 T A 1354.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.455;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ;Func=exonic;Gene=NM_001130042,NM_001130043,NM_001134759,NM_001889;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G;Gencode=Name\x3eENST00000370872.7,ENST00000417775.5,ENST00000340866.9,ENST00000370871.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.3674;1000g2015aug_all=0.216454;esp6500siv2_all=0.3411;ExAC_ALL=0.3573;ExAC_AFR=0.0913;ExAC_AMR=0.3573;ExAC_EAS=0.1076;ExAC_FIN=0.3579;ExAC_NFE=0.4554;ExAC_OTH=0.4007;ExAC_SAS=0.2547;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1383,129,0 1 75185057 rs139734636 C T 568.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ;Func=splicing;Gene=NM_001130042,NM_001130043,NM_001889;GeneDetail=NM_001130042:exon6:c.265-1G>A\x3bNM_001130043:exon5:c.265-1G>A\x3bNM_001889:exon5:c.265-1G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417775.5,ENST00000340866.9,ENST00000370871.7,ENST00000370872.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139734636;cosmic70=ID\x3eCOSM1665902\x3bOCCURENCE\x3e1(kidney);CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0008;ExAC_ALL=0.0008;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0014;ExAC_OTH=0;ExAC_SAS=0.0001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=7.126;phyloP20way_mammalian=0.807;SiPhy_29way_logOdds=18.610;gerp++gt2=5.16;CADD=4.197;CADD_Phred=23.9;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:597,54,0 1 75190452 rs1051122 C T 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.839;DP=42;ExcessHet=3.0103;FS=4.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-2.366;SOR=1.652;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ;Func=exonic;Gene=NM_001130042,NM_001130043,NM_001889;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G;Gencode=Name\x3eENST00000417775.5,ENST00000340866.9,ENST00000370871.7,ENST00000370872.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.7954;1000g2015aug_all=0.773562;esp6500siv2_all=0.7669;ExAC_ALL=0.7529;ExAC_AFR=0.8116;ExAC_AMR=0.8580;ExAC_EAS=0.7896;ExAC_FIN=0.7194;ExAC_NFE=0.7394;ExAC_OTH=0.7324;ExAC_SAS=0.6920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,14:41:99:360,0,651 1 75198740 rs2345436 A C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ;Func=UTR5;Gene=NM_001130042,NM_001130043,NM_001134759,NM_001889;GeneDetail=NM_001130042:c.-8235T>G\x3bNM_001130043:c.-8235T>G\x3bNM_001134759:c.-9922T>G\x3bNM_001889:c.-8235T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417775.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2345436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.768;1000g2015aug_all=0.703674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 75198763 rs277372 A C 270.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ;Func=UTR5;Gene=NM_001130042,NM_001130043,NM_001134759,NM_001889;GeneDetail=NM_001130042:c.-8258T>G\x3bNM_001130043:c.-8258T>G\x3bNM_001134759:c.-9945T>G\x3bNM_001889:c.-8258T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417775.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs277372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:299,21,0 1 75199023 rs143670067 A C 2182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.141;DP=184;ExcessHet=3.0103;FS=2.574;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.458;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRYZ,TYW3;Func=exonic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TYW3:NM_001162916:exon1:c.A95C:p.E32A,TYW3:NM_138467:exon1:c.A95C:p.E32A;Gencode=Name\x3eENST00000457880.6,ENST00000417775.5,ENST00000479111.5,ENST00000370867.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143670067;cosmic70=ID\x3eCOSM3689828\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00199681;esp6500siv2_all=0.0032;ExAC_ALL=0.0022;ExAC_AFR=0.0010;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0034;ExAC_OTH=0.0022;ExAC_SAS=0.0001;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=0.153;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.076;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.880;MutationTaster_pred=D;MutationAssessor_score=2.125;MutationAssessor_pred=M;FATHMM_score=1.5;FATHMM_pred=T;phyloP100way_vertebrate=1.295;phyloP20way_mammalian=1.091;SiPhy_29way_logOdds=7.356;gerp++gt2=3.49;CADD=2.025;CADD_Phred=16.37;ALLELE_END GT:AD:DP:GQ:PL 0/1:102,82:184:99:2211,0,2744 1 75199152 rs277373 C T 3680.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=1.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTYW3;Func=intronic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370867.7,ENST00000479111.5,ENST00000457880.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs277373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=0.9957;ExAC_ALL=0.9989;ExAC_AFR=0.9886;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9977;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3709,318,0 1 75199299 rs28568334 C G 441.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.418;DP=39;ExcessHet=3.0103;FS=1.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.229;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTYW3;Func=intronic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370867.7,ENST00000479111.5,ENST00000457880.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e644\x3bName\x3e"165397:MER5A1(DNA)";avsnp150=rs28568334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.768;1000g2015aug_all=0.703474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,18:38:99:470,0,517 1 75204143 rs277375 G A 116.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=0.21;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTYW3;Func=intronic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370867.7,ENST00000479111.5,ENST00000457880.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs277375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.2032;1000g2015aug_all=0.222444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:145,0,24 1 75214390 rs749690 G C 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.71;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.949;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTYW3;Func=intronic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457880.6,ENST00000370867.7,ENST00000479111.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs749690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.4222;1000g2015aug_all=0.226837;esp6500siv2_all=0.4220;ExAC_ALL=0.4107;ExAC_AFR=0.1517;ExAC_AMR=0.4142;ExAC_EAS=0.0157;ExAC_FIN=0.4385;ExAC_NFE=0.5389;ExAC_OTH=0.4322;ExAC_SAS=0.2492;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:352,0,307 1 75217752 rs11485298 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTYW3;Func=intronic;Gene=NM_001162916,NM_138467;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457880.6,ENST00000370867.7,ENST00000479111.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11485298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.7594;1000g2015aug_all=0.655351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 75357094 rs7367789 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001162916,NM_001001933;GeneDetail=dist\x3e124734\x3bdist\x3e237024;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7367789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.6182;1000g2015aug_all=0.65595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 75603055 rs1526503 A G 2946.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=1.504;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX8;Func=intronic;Gene=NM_001001933,NM_001256114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356261.3,ENST00000294638.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1526503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2975,261,0 1 75603101 rs6695423 A G 751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.023;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.373;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX8;Func=intronic;Gene=NM_001001933,NM_001256114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356261.3,ENST00000294638.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.2003;1000g2015aug_all=0.137979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,25:54:99:780,0,920 1 75603207 rs6681258 G T 298.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.356;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-0.257;SOR=2.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX8;Func=intronic;Gene=NM_001001933,NM_001256114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294638.9,ENST00000356261.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.2003;1000g2015aug_all=0.137979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:327,0,210 1 75622616 rs941032 C T 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.809;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.592;SOR=0.763;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX8;Func=exonic;Gene=NM_001001933,NM_001256114;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LHX8:NM_001256114:exon8:c.C819T:p.H273H,LHX8:NM_001001933:exon9:c.C849T:p.H283H;Gencode=Name\x3eENST00000356261.3,ENST00000294638.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs941032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.545;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.4758;1000g2015aug_amr=0.3026;1000g2015aug_all=0.39397;esp6500siv2_all=0.4302;ExAC_ALL=0.4105;ExAC_AFR=0.4700;ExAC_AMR=0.3034;ExAC_EAS=0.1995;ExAC_FIN=0.3591;ExAC_NFE=0.4237;ExAC_OTH=0.3811;ExAC_SAS=0.5270;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,20:47:99:558,0,748 1 75626420 rs2462955 A T 573.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX8;Func=intronic;Gene=NM_001001933,NM_001256114;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294638.9,ENST00000356261.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2462955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.8876;1000g2015aug_all=0.938898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:602,51,0 1 75672376 rs1948874 A G 588.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.572;DP=63;ExcessHet=3.0103;FS=0.985;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.281;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=exonic;Gene=NM_001320283,NM_152697;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC44A5:NM_001320283:exon22:c.T2058C:p.S686S,SLC44A5:NM_152697:exon24:c.T2076C:p.S692S;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1948874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.177;1000g2015aug_amr=0.4669;1000g2015aug_all=0.440695;esp6500siv2_all=0.3199;ExAC_ALL=0.4054;ExAC_AFR=0.1959;ExAC_AMR=0.5110;ExAC_EAS=0.8216;ExAC_FIN=0.4122;ExAC_NFE=0.3702;ExAC_OTH=0.3830;ExAC_SAS=0.3873;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,25:63:99:617,0,984 1 75680545 rs688513 T G 175.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.114;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-1.45;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs688513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.7709;1000g2015aug_all=0.819289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:204,0,164 1 75680565 rs688539 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.7;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs688539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.7709;1000g2015aug_all=0.819289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 75681351 rs594470 A T 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.056;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs594470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.7709;1000g2015aug_all=0.819289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:205,0,315 1 75681511 rs595009 T C 855.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.207;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.22;SOR=0.572;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=exonic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs595009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.83;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.8862;1000g2015aug_all=0.896565;esp6500siv2_all=0.8492;ExAC_ALL=0.8680;ExAC_AFR=0.8653;ExAC_AMR=0.8968;ExAC_EAS=0.9945;ExAC_FIN=0.8446;ExAC_NFE=0.8441;ExAC_OTH=0.8400;ExAC_SAS=0.8909;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,34:57:99:884,0,607 1 75684529 rs610159 A G 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.619;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs610159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.833;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.8919;1000g2015aug_all=0.915335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:192,0,59 1 75685643 rs12042874 T C 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.113;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.5778;1000g2015aug_all=0.507788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,288 1 75716925 rs588098 C T 1415.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=1.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=exonic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs588098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.7637;1000g2015aug_all=0.744609;esp6500siv2_all=0.6782;ExAC_ALL=0.7398;ExAC_AFR=0.5635;ExAC_AMR=0.8420;ExAC_EAS=0.9316;ExAC_FIN=0.7224;ExAC_NFE=0.7223;ExAC_OTH=0.7196;ExAC_SAS=0.7579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1444,129,0 1 75740845 rs1144298 A G 1353.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=2.191;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1144298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.4755;1000g2015aug_all=0.425519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1382,120,0 1 75823084 rs1249833 C T 630.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1249833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.9841;1000g2015aug_all=0.938898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:659,57,0 1 75862526 rs1249813 C A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1249813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.453;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.3761;1000g2015aug_all=0.594449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 75868236 rs1249777 G T 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.154;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370855.5,ENST00000370859.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23235\x3bName\x3e"166422:L1PA7(LINE)";avsnp150=rs1249777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.1427;1000g2015aug_all=0.229633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,214 1 76019665 rs6593577 G A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e834\x3bName\x3e"166679:LTR16E2(LTR)";avsnp150=rs6593577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.317;1000g2015aug_all=0.309105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 76047910 rs1831701 G A 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.884;DP=38;ExcessHet=3.0103;FS=5.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.173;SOR=1.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A5;Func=intronic;Gene=NM_001130058,NM_001320283,NM_001320285,NM_001320287,NM_152697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370859.7,ENST00000370855.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1831701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.3242;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,12:38:99:319,0,754 1 76082628 rs405409 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001320283;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs405409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9583;1000g2015aug_afr=1;1000g2015aug_amr=0.987;1000g2015aug_all=0.975439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 76107339 rs211716 A G 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320283,NM_000016;GeneDetail=dist\x3e25645\x3bdist\x3e82693;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs211716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.487;1000g2015aug_all=0.616214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:109,0,143 1 76107473 rs211715 C G 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.693;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320283,NM_000016;GeneDetail=dist\x3e25779\x3bdist\x3e82559;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs211715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.487;1000g2015aug_all=0.616214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:193,0,103 1 76143443 rs7513363 A G 128.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=-0.21;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320283,NM_000016;GeneDetail=dist\x3e61749\x3bdist\x3e46589;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e26056\x3bName\x3e"166915:L1PA3(LINE)";avsnp150=rs7513363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.3314;1000g2015aug_all=0.227236;esp6500siv2_all=.;ExAC_ALL=0.2083;ExAC_AFR=0.2917;ExAC_AMR=0.1463;ExAC_EAS=0.0154;ExAC_FIN=.;ExAC_NFE=0.2442;ExAC_OTH=0.2818;ExAC_SAS=0.1965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:157,0,24 1 76143458 rs7516122 T C 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320283,NM_000016;GeneDetail=dist\x3e61764\x3bdist\x3e46574;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e26056\x3bName\x3e"166915:L1PA3(LINE)";avsnp150=rs7516122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.2982;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.2522;1000g2015aug_all=0.180511;esp6500siv2_all=.;ExAC_ALL=0.1912;ExAC_AFR=0.1829;ExAC_AMR=0.1341;ExAC_EAS=0.0156;ExAC_FIN=.;ExAC_NFE=0.2308;ExAC_OTH=0.2593;ExAC_SAS=0.1802;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 76190569 rs1251075 C G 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.291;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-0.608;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000370834.9,ENST00000370841.8,ENST00000420607.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1251075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.325;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.3602;1000g2015aug_all=0.31869;esp6500siv2_all=0.3960;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:365,0,248 1 76194054 rs7524467 C G 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.388;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=-1.825;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370841.8,ENST00000370834.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524467;cosmic70=.;CLNALLELEID=250014;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2997;1000g2015aug_all=0.182907;esp6500siv2_all=0.2535;ExAC_ALL=0.2506;ExAC_AFR=0.1543;ExAC_AMR=0.2791;ExAC_EAS=0.0291;ExAC_FIN=0.2606;ExAC_NFE=0.2997;ExAC_OTH=0.2466;ExAC_SAS=0.1996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:106,0,353 1 76194306 rs1146572 A G 137.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370841.8,ENST00000370834.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.8228;1000g2015aug_all=0.895966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:165,12,0 1 76196428 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370834.9,ENST00000370841.8,ENST00000420607.6,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196430 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370841.8,ENST00000370834.9,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196442 . C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370841.8,ENST00000370834.9,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196448 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370834.9,ENST00000370841.8,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196451 rs181861730 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370841.8,ENST00000370834.9,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=rs181861730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196455 . A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370834.9,ENST00000370841.8;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196458 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370834.9,ENST00000370841.8,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76196459 . G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000370834.9,ENST00000370841.8,ENST00000420607.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1346\x3bName\x3e"167011:AluJr4(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 76198436 rs2275378 T C 397.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.104;DP=49;ExcessHet=3.0103;FS=1.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.616;SOR=0.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370834.9,ENST00000370841.8,ENST00000420607.6,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275378;cosmic70=.;CLNALLELEID=98170;CLNDN=Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_specified;CLNDISDB=MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED_CT:128596003|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.3256;1000g2015aug_all=0.23123;esp6500siv2_all=0.3176;ExAC_ALL=0.2740;ExAC_AFR=0.2861;ExAC_AMR=0.3024;ExAC_EAS=0.0276;ExAC_FIN=0.2813;ExAC_NFE=0.3177;ExAC_OTH=0.2638;ExAC_SAS=0.1976;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:426,0,850 1 76198785 rs3818855 G A 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.549;DP=27;ExcessHet=3.0103;FS=3.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.883;SOR=0.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=exonic;Gene=NM_001286043;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ACADM:NM_001286043:exon5:c.G336A:p.A112A;Gencode=Name\x3eENST00000420607.6,ENST00000370834.9,ENST00000370841.8,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.3256;1000g2015aug_all=0.23103;esp6500siv2_all=0.3193;ExAC_ALL=0.2730;ExAC_AFR=0.2847;ExAC_AMR=0.3031;ExAC_EAS=0.0278;ExAC_FIN=0.2810;ExAC_NFE=0.3177;ExAC_OTH=0.2666;ExAC_SAS=0.1980;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:211,0,385 1 76199345 rs2153126 C G 1154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.979;DP=84;ExcessHet=3.0103;FS=4.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.506;SOR=1.207;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000370841.8,ENST00000370834.9,ENST00000420607.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2153126;cosmic70=.;CLNALLELEID=250015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.3256;1000g2015aug_all=0.23103;esp6500siv2_all=0.3174;ExAC_ALL=0.2737;ExAC_AFR=0.2831;ExAC_AMR=0.3025;ExAC_EAS=0.0277;ExAC_FIN=0.2815;ExAC_NFE=0.3173;ExAC_OTH=0.2632;ExAC_SAS=0.1976;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,42:83:99:1183,0,1067 1 76205643 rs12127402 C A 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.519;DP=49;ExcessHet=3.0103;FS=1.353;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.012;SOR=0.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000370834.9,ENST00000370841.8,ENST00000420607.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127402;cosmic70=.;CLNALLELEID=250016;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.3026;1000g2015aug_all=0.190096;esp6500siv2_all=0.2589;ExAC_ALL=0.2861;ExAC_AFR=0.1953;ExAC_AMR=0.3374;ExAC_EAS=0.0412;ExAC_FIN=0.2837;ExAC_NFE=0.3387;ExAC_OTH=0.2736;ExAC_SAS=0.2108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,19:48:99:536,0,997 1 76209754 rs12123977 G A 270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.901;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=1.203;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM,DLSTP1;Func=ncRNA_exonic;Gene=NR_130749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370841.8,ENST00000370834.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12123977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.3026;1000g2015aug_all=0.183307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,13:36:99:299,0,670 1 76209792 rs1146579 T C 482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.346;DP=40;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.421;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDLSTP1,ACADM;Func=ncRNA_exonic;Gene=NR_130749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370841.8,ENST00000370834.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.3617;1000g2015aug_all=0.317492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:511,0,581 1 76209935 rs1146580 T C 253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.055;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.217;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM,DLSTP1;Func=ncRNA_exonic;Gene=NR_130749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370834.9,ENST00000370841.8,ENST00000420607.6,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.3617;1000g2015aug_all=0.31849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:282,0,350 1 76210289 rs11161510 C T 65.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=10;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.33;SOR=2.812;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM,DLSTP1;Func=ncRNA_exonic;Gene=NR_130749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370841.8,ENST00000370834.9,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161510;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.2522;1000g2015aug_all=0.17512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:94:94,0,194 1 76216330 rs11161521 T C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.108;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=0.652;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=intronic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420607.6,ENST00000370834.9,ENST00000370841.8,ENST00000541113.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBlood_metabolite_levels;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2522;1000g2015aug_all=0.174321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,100 1 76227022 rs1061337 A G 1130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.069;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.113;SOR=0.792;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=exonic;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ACADM:NM_001286044:exon8:c.A594G:p.V198V,ACADM:NM_001286042:exon10:c.A1053G:p.V351V,ACADM:NM_000016:exon11:c.A1161G:p.V387V,ACADM:NM_001127328:exon11:c.A1173G:p.V391V,ACADM:NM_001286043:exon12:c.A1260G:p.V420V;Gencode=Name\x3eENST00000541113.5,ENST00000420607.6,ENST00000370841.8,ENST00000370834.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061337;cosmic70=.;CLNALLELEID=98165;CLNDN=Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_specified;CLNDISDB=MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED_CT:128596003|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2522;1000g2015aug_all=0.174321;esp6500siv2_all=0.2500;ExAC_ALL=0.2333;ExAC_AFR=0.1473;ExAC_AMR=0.2040;ExAC_EAS=0.0273;ExAC_FIN=0.2542;ExAC_NFE=0.2885;ExAC_OTH=0.2285;ExAC_SAS=0.1846;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,41:70:99:1159,0,756 1 76228487 rs17848065 G A 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.328;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.036;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACADM;Func=UTR3;Gene=NM_000016,NM_001127328,NM_001286042,NM_001286043,NM_001286044;GeneDetail=NM_000016:c.*39G>A\x3bNM_001127328:c.*39G>A\x3bNM_001286042:c.*39G>A\x3bNM_001286043:c.*39G>A\x3bNM_001286044:c.*39G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541113.5,ENST00000370841.8,ENST00000370834.9,ENST00000420607.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17848065;cosmic70=.;CLNALLELEID=227913;CLNDN=Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_specified;CLNDISDB=MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED_CT:128596003|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.049;1000g2015aug_all=0.0367412;esp6500siv2_all=0.0383;ExAC_ALL=0.0376;ExAC_AFR=0.0369;ExAC_AMR=0.0219;ExAC_EAS=0.0060;ExAC_FIN=0.0503;ExAC_NFE=0.0445;ExAC_OTH=0.0526;ExAC_SAS=0.0348;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:112,0,70 1 76234886 rs1146593 A G 1072.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000016,NM_004582;GeneDetail=dist\x3e5523\x3bdist\x3e16993;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1707\x3bName\x3e"167093:THE1D(LTR)";avsnp150=rs1146593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.8213;1000g2015aug_all=0.884585;esp6500siv2_all=.;ExAC_ALL=0.9248;ExAC_AFR=0.9574;ExAC_AMR=0.8587;ExAC_EAS=0.7803;ExAC_FIN=.;ExAC_NFE=0.9321;ExAC_OTH=0.9569;ExAC_SAS=0.9243;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1101,102,0 1 76235001 rs1826978 A G 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.949;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.514;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000016,NM_004582;GeneDetail=dist\x3e5638\x3bdist\x3e16878;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1707\x3bName\x3e"167093:THE1D(LTR)";avsnp150=rs1826978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6994;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.2522;1000g2015aug_all=0.350439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:297,0,205 1 76251746 rs1146632 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.068;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.408;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.792;1000g2015aug_amr=0.5303;1000g2015aug_all=0.493011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 76252011 rs1146634 G A 2285.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.559;DP=185;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.442;SOR=0.689;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319942.7,ENST00000370826.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.408;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.792;1000g2015aug_amr=0.5303;1000g2015aug_all=0.493011;esp6500siv2_all=0.6427;ExAC_ALL=0.5230;ExAC_AFR=0.7220;ExAC_AMR=0.4511;ExAC_EAS=0.0334;ExAC_FIN=0.5779;ExAC_NFE=0.5877;ExAC_OTH=0.5760;ExAC_SAS=0.4181;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,93:184:99:2314,0,2490 1 76252183 rs35505941 G A 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.259;DP=40;ExcessHet=3.0103;FS=2.168;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.501;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370826.3,ENST00000319942.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35505941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0431;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:584,0,644 1 76252202 rs35321712 G A 484.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.808;DP=33;ExcessHet=3.0103;FS=3.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.388;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370826.3,ENST00000319942.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35321712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.049;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:513,0,611 1 76252335 rs1146635 A G 91.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319942.7,ENST00000370826.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.666;1000g2015aug_afr=0.975;1000g2015aug_amr=0.5865;1000g2015aug_all=0.569688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 1 76252687 rs1146636 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370826.3,ENST00000319942.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.409;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.792;1000g2015aug_amr=0.5303;1000g2015aug_all=0.493211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:72,0,71 1 76255228 rs11161620 G A 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.464;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB,SNORD45B;Func=ncRNA_exonic;Gene=NR_002748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000364617.1,ENST00000370826.3,ENST00000319942.7;cytoBand=1p31.1;wgRna=Name\x3eU45B;genomicSuperDups=.;Repeat=.;avsnp150=rs11161620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.112;1000g2015aug_amr=0.219;1000g2015aug_all=0.159944;esp6500siv2_all=0.2245;ExAC_ALL=0.2106;ExAC_AFR=0.1285;ExAC_AMR=0.1705;ExAC_EAS=0.0281;ExAC_FIN=0.2124;ExAC_NFE=0.2585;ExAC_OTH=0.2060;ExAC_SAS=0.1913;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,148 1 76257892 rs12703 A T 1825.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=exonic;Gene=NM_004582;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RABGGTB:NM_004582:exon7:c.A606T:p.A202A;Gencode=Name\x3eENST00000319942.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.955;1000g2015aug_eur=0.9374;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.8055;1000g2015aug_all=0.897165;esp6500siv2_all=0.9499;ExAC_ALL=0.8991;ExAC_AFR=0.9765;ExAC_AMR=0.7313;ExAC_EAS=0.7359;ExAC_FIN=0.8951;ExAC_NFE=0.9263;ExAC_OTH=0.9251;ExAC_SAS=0.9434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1854,183,0 1 76258198 rs55764969 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGGTB;Func=intronic;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319942.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55764969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0431;1000g2015aug_amr=0.0447;1000g2015aug_all=0.038139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 76260837 rs11161626 C T 33.41 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=11.14;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_004582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.2248;1000g2015aug_all=0.172324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:8:61,8,0 1 76269372 rs5745323 T C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.176;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.428;1000g2015aug_all=0.383387;esp6500siv2_all=0.5379;ExAC_ALL=0.4859;ExAC_AFR=0.4669;ExAC_AMR=0.3679;ExAC_EAS=0.0372;ExAC_FIN=0.5557;ExAC_NFE=0.5677;ExAC_OTH=0.5318;ExAC_SAS=0.4318;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,259 1 76272654 rs5745328 A T 385.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.251;DP=41;ExcessHet=3.0103;FS=7.521;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.953;SOR=2.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.1037;1000g2015aug_all=0.0692891;esp6500siv2_all=0.0636;ExAC_ALL=0.0612;ExAC_AFR=0.1434;ExAC_AMR=0.1031;ExAC_EAS=0.0101;ExAC_FIN=0.0623;ExAC_NFE=0.0513;ExAC_OTH=0.0653;ExAC_SAS=0.0444;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:414,0,595 1 76276353 rs12122939 T C 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.397;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.2248;1000g2015aug_all=0.170527;esp6500siv2_all=0.2317;ExAC_ALL=0.2352;ExAC_AFR=0.1810;ExAC_AMR=0.1894;ExAC_EAS=0.0152;ExAC_FIN=0.2304;ExAC_NFE=0.2882;ExAC_OTH=0.2249;ExAC_SAS=0.2073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:99:411,0,161 1 76280543 rs1144339 A G 105.03 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1144339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.768;1000g2015aug_all=0.838458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 76308413 rs11161718 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7995\x3bName\x3e"167248:LTR13(LTR)";avsnp150=rs11161718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.3472;1000g2015aug_amr=0.5605;1000g2015aug_all=0.563099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 76308431 rs79435381 G A 132.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7995\x3bName\x3e"167248:LTR13(LTR)";avsnp150=rs79435381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.1037;1000g2015aug_all=0.0692891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:160,12,0 1 76319015 rs6682057 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2257\x3bName\x3e"167265:AluSx1(SINE)";avsnp150=rs6682057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.9914;1000g2015aug_all=0.95647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 76333163 rs5745433 T G 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.162;DP=16;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.673;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.2161;1000g2015aug_all=0.165535;esp6500siv2_all=0.2266;ExAC_ALL=0.2031;ExAC_AFR=0.1611;ExAC_AMR=0.1652;ExAC_EAS=0.0129;ExAC_FIN=0.2131;ExAC_NFE=0.2446;ExAC_OTH=0.1949;ExAC_SAS=0.1842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:225,0,289 1 76333173 rs5745434 C T 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.839;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.538;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0471246;esp6500siv2_all=0.0466;ExAC_ALL=0.0374;ExAC_AFR=0.0601;ExAC_AMR=0.0217;ExAC_EAS=0.0084;ExAC_FIN=0.0509;ExAC_NFE=0.0397;ExAC_OTH=0.0478;ExAC_SAS=0.0339;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:175,0,414 1 76344011 rs1493367 C A 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.287;DP=31;ExcessHet=3.0103;FS=2.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.019;SOR=0.257;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1493367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.7781;1000g2015aug_all=0.792732;esp6500siv2_all=0.7411;ExAC_ALL=0.7967;ExAC_AFR=0.7108;ExAC_AMR=0.8370;ExAC_EAS=0.9875;ExAC_FIN=0.8060;ExAC_NFE=0.7717;ExAC_OTH=0.8215;ExAC_SAS=0.8188;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:395,0,537 1 76344711 rs5745449 A T 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.588;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=0.325;SOR=0.901;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=exonic;Gene=NM_002440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MSH4:NM_002440:exon12:c.A1575T:p.L525L;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.7781;1000g2015aug_all=0.792732;esp6500siv2_all=0.7415;ExAC_ALL=0.7963;ExAC_AFR=0.7108;ExAC_AMR=0.8371;ExAC_EAS=0.9873;ExAC_FIN=0.8060;ExAC_NFE=0.7715;ExAC_OTH=0.8223;ExAC_SAS=0.8161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,15:37:99:346,0,520 1 76344856 rs5745451 T C 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.858;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=-0.053;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.32;1000g2015aug_amr=0.3372;1000g2015aug_all=0.232428;esp6500siv2_all=0.1864;ExAC_ALL=0.1887;ExAC_AFR=0.2959;ExAC_AMR=0.3972;ExAC_EAS=0.2768;ExAC_FIN=0.1850;ExAC_NFE=0.1467;ExAC_OTH=0.1651;ExAC_SAS=0.1053;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,5:17:99:145,0,382 1 76344920 rs5745453 G A 219.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.71;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.9914;1000g2015aug_all=0.95647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:248,18,0 1 76378361 rs5020911 T A 303.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.58;DP=28;ExcessHet=3.0103;FS=6.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=2.856;SOR=0.108;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5020911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.502;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.149;1000g2015aug_amr=0.3199;1000g2015aug_all=0.392173;esp6500siv2_all=.;ExAC_ALL=0.4851;ExAC_AFR=0.3929;ExAC_AMR=0.4755;ExAC_EAS=0.5437;ExAC_FIN=0.4708;ExAC_NFE=0.4723;ExAC_OTH=0.5145;ExAC_SAS=0.4997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,16:27:99:341,0,255 1 76378362 rs2881857 T A 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.716;DP=28;ExcessHet=3.0103;FS=9.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=-0.785;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=intronic;Gene=NM_002440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2881857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2819;ExAC_AFR=0.0628;ExAC_AMR=0.1994;ExAC_EAS=0.0556;ExAC_FIN=0.3108;ExAC_NFE=0.2475;ExAC_OTH=0.2692;ExAC_SAS=0.3946;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:214,0,376 1 76378502 rs5745549 G A 493.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.525;DP=40;ExcessHet=3.0103;FS=1.254;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.41;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSH4;Func=exonic;Gene=NM_002440;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MSH4:NM_002440:exon20:c.G2741A:p.S914N;Gencode=Name\x3eENST00000263187.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5745549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0636981;esp6500siv2_all=0.0690;ExAC_ALL=0.0450;ExAC_AFR=0.1378;ExAC_AMR=0.0244;ExAC_EAS=0.0065;ExAC_FIN=0.0515;ExAC_NFE=0.0411;ExAC_OTH=0.0524;ExAC_SAS=0.0348;SIFT_score=0.382;SIFT_pred=T;Polyphen2_HDIV_score=0.411;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.146;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=-2.28;FATHMM_pred=D;phyloP100way_vertebrate=0.636;phyloP20way_mammalian=0.006;SiPhy_29way_logOdds=0.434;gerp++gt2=.;CADD=1.312;CADD_Phred=12.33;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:522,0,371 1 76445923 rs1251554 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080868,NR_125939;GeneDetail=dist\x3e47807\x3bdist\x3e31086;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1251554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.987;1000g2015aug_all=0.941294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 76519880 rs1251487 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125939,NM_001160011;GeneDetail=dist\x3e34839\x3bdist\x3e20489;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434540.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1892\x3bName\x3e"167640:AluJr(SINE)";avsnp150=rs1251487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.9856;1000g2015aug_all=0.96845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 76608777 rs184095 C T 476.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs184095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8581;1000g2015aug_sas=0.728;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.7003;1000g2015aug_all=0.613219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:505,42,0 1 76645304 rs11162095 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1222\x3bName\x3e"167867:L2a(LINE)";avsnp150=rs11162095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.7003;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 76645490 rs664998 G C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1222\x3bName\x3e"167869:L2a(LINE)";avsnp150=rs664998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6362;1000g2015aug_amr=0.9654;1000g2015aug_all=0.898363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 76684938 . T G 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.03;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 76684940 . C G 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.92;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 76738339 rs2210832 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2210832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.3867;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.3516;1000g2015aug_all=0.186502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 76771475 rs10782610 G T 887.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e459\x3bName\x3e"168088:MIR(SINE)";avsnp150=rs10782610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7103;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.7781;1000g2015aug_all=0.697484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:916,78,0 1 76771927 rs10782611 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7113;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.7795;1000g2015aug_all=0.70627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 76773440 rs76783328 T G 362.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76783328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0327476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:391,33,0 1 76861761 rs4576695 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3,ENST00000621530.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4420\x3bName\x3e"168259:L1MA4A(LINE)";avsnp150=rs4576695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 76878156 rs17098942 C T 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.436;DP=21;ExcessHet=3.0103;FS=4.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.178;SOR=0.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621530.1,ENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17098942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.1499;1000g2015aug_all=0.251997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:244,0,370 1 77042405 rs315029 G A 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=1.794;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=intronic;Gene=NM_001160011,NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349109,NM_001349110,NM_001349111,NM_152996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs315029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.2968;1000g2015aug_all=0.300719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:370,0,202 1 77042631 rs28439552 G C 235.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.092;DP=29;ExcessHet=3.0103;FS=5.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-2.081;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=UTR3;Gene=NM_001160011,NM_001349110;GeneDetail=NM_001160011:c.*91G>C\x3bNM_001349110:c.*77G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e26\x3bName\x3e"168545:A-rich(Low_complexity)";avsnp150=rs28439552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.1988;1000g2015aug_all=0.154353;esp6500siv2_all=0.2238;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:273,0,475 1 77094513 rs147280152 C T 1125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.484;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.122;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC3;Func=UTR3;Gene=NM_001349105,NM_001349106,NM_001349107,NM_001349108,NM_001349111,NM_152996;GeneDetail=NM_001349105:c.*22C>T\x3bNM_001349106:c.*22C>T\x3bNM_001349107:c.*22C>T\x3bNM_001349108:c.*22C>T\x3bNM_001349111:c.*22C>T\x3bNM_152996:c.*22C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328299.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147280152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0227636;esp6500siv2_all=0.0308;ExAC_ALL=0.0352;ExAC_AFR=0.0096;ExAC_AMR=0.0250;ExAC_EAS=0.0005;ExAC_FIN=0.0219;ExAC_NFE=0.0415;ExAC_OTH=0.0398;ExAC_SAS=0.0552;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,38:76:99:1154,0,1107 1 77149849 rs1498365 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e46848\x3bdist\x3e183244;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1032\x3bName\x3e"168731:L2a(LINE)";avsnp150=rs1498365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.772;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9222;1000g2015aug_all=0.871605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 77165502 rs2764657 G T 1280.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.84;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e62501\x3bdist\x3e167591;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.919732\x3bName\x3echr6:116038726;Repeat=.;avsnp150=rs2764657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.9597;1000g2015aug_all=0.897963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1309,138,0 1 77165835 rs2619599 G C 2812.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.97;QD=31.25;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e62834\x3bdist\x3e167258;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.919732\x3bName\x3echr6:116038726;Repeat=.;avsnp150=rs2619599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.9582;1000g2015aug_all=0.897963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2841,270,0 1 77166082 rs113794311 G A 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.633;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.285;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e63081\x3bdist\x3e167011;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.919732\x3bName\x3echr6:116038726;Repeat=.;avsnp150=rs113794311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0185703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,17:36:99:536,0,652 1 77166710 rs485346 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e63709\x3bdist\x3e166383;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e921\x3bName\x3e"168765:L1MA8(LINE)";avsnp150=rs485346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.975;1000g2015aug_amr=0.964;1000g2015aug_all=0.903754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 77297459 rs9659970 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001349109,NM_001320273;GeneDetail=dist\x3e194458\x3bdist\x3e35634;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2908\x3bName\x3e"169004:Charlie17b(DNA)";avsnp150=rs9659970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.772;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.7089;1000g2015aug_all=0.597843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 77333659 rs4949752 G A 386.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.68;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST6GALNAC5;Func=intronic;Gene=NM_001320273,NM_001320274,NM_030965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477717.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2758;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.3256;1000g2015aug_all=0.292332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:415,30,0 1 77558057 rs1048575 G C 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=-0.328;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=UTR3;Gene=NM_005482;GeneDetail=NM_005482:c.*2C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000445065.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4325;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.389;1000g2015aug_all=0.357628;esp6500siv2_all=0.2982;ExAC_ALL=0.2936;ExAC_AFR=0.4160;ExAC_AMR=0.4371;ExAC_EAS=0.4019;ExAC_FIN=0.1896;ExAC_NFE=0.2471;ExAC_OTH=0.2715;ExAC_SAS=0.2902;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:73:73,0,81 1 77558358 rs2036444 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000445065.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2036444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.165;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.1427;1000g2015aug_all=0.123602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 77620035 rs839832 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445065.5,ENST00000359130.1,ENST00000370812.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 77627096 rs839825 G A 1388.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359130.1,ENST00000445065.5,ENST00000370812.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988618;esp6500siv2_all=0.9876;ExAC_ALL=0.9967;ExAC_AFR=0.9646;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1417,120,0 1 77632198 rs1721145 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000359130.1,ENST00000445065.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1721145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.2334;1000g2015aug_all=0.19369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 77632270 rs1721144 T C 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000445065.5,ENST00000359130.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1721144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9971;1000g2015aug_all=0.986621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 77634948 rs1779199 G A 540.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=exonic;Gene=NM_005482;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIGK:NM_005482:exon4:c.C372T:p.Y124Y;Gencode=Name\x3eENST00000370812.7,ENST00000359130.1,ENST00000445065.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9971;1000g2015aug_all=0.986621;esp6500siv2_all=0.9832;ExAC_ALL=0.9955;ExAC_AFR=0.9526;ExAC_AMR=0.9982;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:569,54,0 1 77635148 rs1779198 A G 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.508;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.952;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000359130.1,ENST00000445065.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.2334;1000g2015aug_all=0.19349;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:108,0,165 1 77684623 rs71658787 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=intronic;Gene=NM_005482;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370812.7,ENST00000445065.5,ENST00000359130.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71658787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.2305;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 77685042 rs12723684 T C 1240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.251;DP=114;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.801;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGK;Func=exonic;Gene=NM_005482;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PIGK:NM_005482:exon1:c.A46G:p.T16A;Gencode=Name\x3eENST00000359130.1,ENST00000445065.5,ENST00000370812.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12723684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.2305;1000g2015aug_all=0.191693;esp6500siv2_all=0.1797;ExAC_ALL=0.1228;ExAC_AFR=0.4097;ExAC_AMR=0.2304;ExAC_EAS=0.0464;ExAC_FIN=0.0354;ExAC_NFE=0.0831;ExAC_OTH=0.0829;ExAC_SAS=0.1045;SIFT_score=0.521;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.309;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=1.0;FATHMM_pred=T;phyloP100way_vertebrate=1.015;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=9.016;gerp++gt2=4.58;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,45:113:99:1269,0,1684 1 77759380 rs2815310 C G 85.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354567.6,ENST00000344720.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.028;1000g2015aug_amr=0.0994;1000g2015aug_all=0.105831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:114,0,105 1 77759578 rs2815311 A G 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.206;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=0.386;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=exonic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AK5:NM_012093:exon3:c.A270G:p.A90A,AK5:NM_174858:exon3:c.A348G:p.A116A;Gencode=Name\x3eENST00000344720.9,ENST00000354567.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.1023;1000g2015aug_all=0.115016;esp6500siv2_all=0.1645;ExAC_ALL=0.1681;ExAC_AFR=0.0703;ExAC_AMR=0.0740;ExAC_EAS=0.1384;ExAC_FIN=0.2874;ExAC_NFE=0.2097;ExAC_OTH=0.1600;ExAC_SAS=0.0954;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:471,0,736 1 77763071 rs1167207 A G 663.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.667;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.129;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344720.9,ENST00000354567.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1167207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8631;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.8876;1000g2015aug_all=0.866414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,23:44:99:692,0,528 1 77779836 rs1167198 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344720.9,ENST00000354567.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e539\x3bName\x3e"169814:MIR(SINE)";avsnp150=rs1167198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7857;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.9092;1000g2015aug_all=0.810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 77816367 rs2815334 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354567.6,ENST00000344720.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7897;1000g2015aug_amr=0.9784;1000g2015aug_all=0.941494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 77876406 rs10782647 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354567.6,ENST00000344720.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.4168;1000g2015aug_amr=0.5418;1000g2015aug_all=0.582069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 78001881 rs10873948 T C 707.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.04;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354567.6,ENST00000344720.9,ENST00000478255.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1829\x3bName\x3e"170286:AluJo(SINE)";avsnp150=rs10873948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8994;1000g2015aug_amr=0.9856;1000g2015aug_all=0.971446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:736,60,0 1 78001947 rs12095064 A G 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.23;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354567.6,ENST00000344720.9,ENST00000478255.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1829\x3bName\x3e"170286:AluJo(SINE)";avsnp150=rs12095064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.4138;1000g2015aug_amr=0.804;1000g2015aug_all=0.635583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 78024284 rs6675743 T C 594.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=intronic;Gene=NM_012093,NM_174858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344720.9,ENST00000354567.6,ENST00000478255.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675743;cosmic70=.;CLNALLELEID=389472;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.6391;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.8357;1000g2015aug_all=0.685304;esp6500siv2_all=0.7168;ExAC_ALL=0.7462;ExAC_AFR=0.5787;ExAC_AMR=0.8468;ExAC_EAS=0.7433;ExAC_FIN=0.7256;ExAC_NFE=0.7741;ExAC_OTH=0.7258;ExAC_SAS=0.6790;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:623,57,0 1 78024602 rs10873950 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAK5;Func=UTR3;Gene=NM_012093,NM_174858;GeneDetail=NM_012093:c.*247A>G\x3bNM_174858:c.*247A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344720.9,ENST00000354567.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10873950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.5567;1000g2015aug_amr=0.8343;1000g2015aug_all=0.6873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 78031994 rs7552291 A G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.545;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZZZ3;Func=intronic;Gene=NM_001308237,NM_015534;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370801.7,ENST00000370798.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.781;1000g2015aug_all=0.544928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:140,0,143 1 78045067 rs72683638 C A 257.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.203;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.14;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZZZ3;Func=intronic;Gene=NM_001308237,NM_015534;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370801.7,ENST00000370798.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72683638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0271565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:286,0,215 1 78045369 rs1565852 G A 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.119;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.978;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZZZ3;Func=intronic;Gene=NM_001308237,NM_015534;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370798.5,ENST00000370801.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1565852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.7983;1000g2015aug_all=0.633187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:220,0,260 1 78045453 rs72683639 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZZZ3;Func=intronic;Gene=NM_001308237,NM_015534;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370801.7,ENST00000370798.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e358\x3bName\x3e"170376:Tigger20a(DNA)";avsnp150=rs72683639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0271565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 78171290 rs278840 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP33;Func=intronic;Gene=NM_015017,NM_201624;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370794.7,ENST00000370793.5,ENST00000357428.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e802\x3bName\x3e"170636:AluJr4(SINE)";avsnp150=rs278840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.333;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.2622;1000g2015aug_all=0.492612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 78178976 rs6603958 T A 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.269;DP=37;ExcessHet=3.0103;FS=8.947;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=1.254;SOR=0.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP33;Func=intronic;Gene=NM_015017,NM_201624,NM_201626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357428.5,ENST00000370794.7,ENST00000370793.5,ENST00000370792.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6603958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.332;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.2622;1000g2015aug_all=0.492612;esp6500siv2_all=0.4280;ExAC_ALL=0.3660;ExAC_AFR=0.6905;ExAC_AMR=0.2151;ExAC_EAS=0.3803;ExAC_FIN=0.3353;ExAC_NFE=0.3072;ExAC_OTH=0.3850;ExAC_SAS=0.5116;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,25:36:99:663,0,300 1 78184325 rs12142671 A G 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.153;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=-1.691;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP33;Func=exonic;Gene=NM_015017,NM_201624,NM_201626;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USP33:NM_201624:exon16:c.T1693C:p.L565L,USP33:NM_015017:exon17:c.T1786C:p.L596L,USP33:NM_201626:exon17:c.T1762C:p.L588L;Gencode=Name\x3eENST00000357428.5,ENST00000370793.5,ENST00000370792.7,ENST00000370794.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.1988;1000g2015aug_all=0.355631;esp6500siv2_all=0.2999;ExAC_ALL=0.2947;ExAC_AFR=0.4207;ExAC_AMR=0.1798;ExAC_EAS=0.2668;ExAC_FIN=0.2921;ExAC_NFE=0.2541;ExAC_OTH=0.3274;ExAC_SAS=0.4756;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:88:88,0,191 1 78201745 rs2296227 G T 436.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.354;DP=57;ExcessHet=3.0103;FS=7.828;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=-1.924;SOR=1.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSP33;Func=exonic;Gene=NM_015017,NM_201624,NM_201626;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USP33:NM_201624:exon6:c.C450A:p.A150A,USP33:NM_015017:exon7:c.C543A:p.A181A,USP33:NM_201626:exon7:c.C543A:p.A181A;Gencode=Name\x3eENST00000370793.5,ENST00000370792.7,ENST00000370794.7,ENST00000357428.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.332;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.2608;1000g2015aug_all=0.489417;esp6500siv2_all=0.4286;ExAC_ALL=0.3660;ExAC_AFR=0.6916;ExAC_AMR=0.2149;ExAC_EAS=0.3797;ExAC_FIN=0.3355;ExAC_NFE=0.3078;ExAC_OTH=0.3877;ExAC_SAS=0.5059;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,20:57:99:465,0,900 1 78240117 rs2031342 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.207;DP=12;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.931;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201624,NM_001270384;GeneDetail=dist\x3e14553\x3bdist\x3e5192;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2031342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.33;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.2608;1000g2015aug_all=0.48762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,208 1 78272902 rs4949822 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM73A;Func=intronic;Gene=NM_001270384,NM_198549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443751.3,ENST00000370791.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1958\x3bName\x3e"170882:AluJb(SINE)";avsnp150=rs4949822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.7853;1000g2015aug_all=0.572484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:75,0,30 1 78281002 rs11162386 T C 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.319;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM73A;Func=intronic;Gene=NM_001270384,NM_198549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370791.7,ENST00000443751.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11162386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.7911;1000g2015aug_all=0.582668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:60:178,0,60 1 78312788 rs7417104 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM73A;Func=intronic;Gene=NM_001270384,NM_198549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370791.7,ENST00000443751.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.8055;1000g2015aug_all=0.892971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 78313494 rs10873956 G A 647.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.59;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM73A;Func=intronic;Gene=NM_001270384,NM_198549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370791.7,ENST00000443751.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.941368\x3bName\x3echr17:30184612;Repeat=.;avsnp150=rs10873956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.7983;1000g2015aug_all=0.873003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:676,51,0 1 78314263 rs7410814 G A 229.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.53;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM73A;Func=intronic;Gene=NM_001270384,NM_198549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370791.7,ENST00000443751.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.941368\x3bName\x3echr17:30184612;Repeat=.;avsnp150=rs7410814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:258,27,0 1 78383467 rs1749913 G A 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.389;DP=14;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.251;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEXN;Func=intronic;Gene=NM_001172309,NM_144573;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334785.11,ENST00000330010.12;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.728;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.7579;1000g2015aug_all=0.763778;esp6500siv2_all=0.8255;ExAC_ALL=0.8117;ExAC_AFR=0.7462;ExAC_AMR=0.7134;ExAC_EAS=0.7990;ExAC_FIN=0.7690;ExAC_NFE=0.8609;ExAC_OTH=0.8068;ExAC_SAS=0.7482;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:292,0,174 1 78392446 rs1166698 G A 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.89;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=-0.453;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEXN;Func=exonic;Gene=NM_001172309,NM_144573;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;Gencode=Name\x3eENST00000334785.11,ENST00000330010.12;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1166698;cosmic70=.;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.1167;1000g2015aug_all=0.150759;esp6500siv2_all=0.1578;ExAC_ALL=0.1846;ExAC_AFR=0.0366;ExAC_AMR=0.1428;ExAC_EAS=0.3947;ExAC_FIN=0.1704;ExAC_NFE=0.2142;ExAC_OTH=0.1737;ExAC_SAS=0.0781;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=3.37;MutationAssessor_pred=M;FATHMM_score=-0.2;FATHMM_pred=T;phyloP100way_vertebrate=9.356;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=19.694;gerp++gt2=5.64;CADD=5.664;CADD_Phred=26.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:99:112,0,358 1 78393287 rs58132637 C G 86.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEXN;Func=intronic;Gene=NM_001172309,NM_144573;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330010.12,ENST00000334785.11;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e49\x3bName\x3e"171154:(TG)n(Simple_repeat)";avsnp150=rs58132637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.829;1000g2015aug_amr=0.745;1000g2015aug_all=0.83746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:114,9,0 1 78393288 rs61778872 T A 86.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEXN;Func=intronic;Gene=NM_001172309,NM_144573;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330010.12,ENST00000334785.11;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e49\x3bName\x3e"171154:(TG)n(Simple_repeat)";avsnp150=rs61778872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8889;1000g2015aug_sas=0.8211;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.7579;1000g2015aug_all=0.845248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:114,9,0 1 78399207 rs4483454 C G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEXN;Func=intronic;Gene=NM_001172309,NM_144573;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334785.11,ENST00000330010.12;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4483454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.8131;1000g2015aug_afr=0.4327;1000g2015aug_amr=0.6916;1000g2015aug_all=0.664537;esp6500siv2_all=0.7190;ExAC_ALL=0.7599;ExAC_AFR=0.5009;ExAC_AMR=0.6789;ExAC_EAS=0.8027;ExAC_FIN=0.7559;ExAC_NFE=0.8164;ExAC_OTH=0.7648;ExAC_SAS=0.7264;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:110,0,34 1 78426231 rs2296455 A G 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.691;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.687;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFUBP1;Func=intronic;Gene=NM_001303433,NM_003902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370767.5,ENST00000370768.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.0432;1000g2015aug_all=0.113219;esp6500siv2_all=0.0751;ExAC_ALL=0.0940;ExAC_AFR=0.1625;ExAC_AMR=0.0527;ExAC_EAS=0.1345;ExAC_FIN=0.0738;ExAC_NFE=0.0635;ExAC_OTH=0.1017;ExAC_SAS=0.1434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:261,0,102 1 78426284 rs2296454 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFUBP1;Func=intronic;Gene=NM_001303433,NM_003902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370768.6,ENST00000370767.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.5681;1000g2015aug_amr=0.3084;1000g2015aug_all=0.335663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 78432091 rs72685362 A G 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=1.378;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFUBP1;Func=intronic;Gene=NM_001303433,NM_003902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370768.6,ENST00000370767.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e666\x3bName\x3e"171217:L2a(LINE)";avsnp150=rs72685362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0329473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:334,0,167 1 78432503 rs3736909 G C 242.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.544;DP=23;ExcessHet=3.0103;FS=4.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.553;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFUBP1;Func=intronic;Gene=NM_001303433,NM_003902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370768.6,ENST00000370767.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.5681;1000g2015aug_amr=0.3084;1000g2015aug_all=0.335663;esp6500siv2_all=0.2787;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:271,0,403 1 78478675 rs3790586 G A 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=33;ExcessHet=3.0103;FS=1.901;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-1.313;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJB4;Func=intronic;Gene=NM_001317099,NM_001317100,NM_001317101,NM_001317102,NM_001317103,NM_007034;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370763.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.6994;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.6931;1000g2015aug_all=0.665935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,10:33:99:216,0,725 1 78481640 rs1039863 G A 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=35;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=1.47;SOR=2.406;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAJB4;Func=intronic;Gene=NM_001317099,NM_001317100,NM_001317101,NM_001317102,NM_001317103,NM_007034;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370763.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1039863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.6994;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.4319;1000g2015aug_amr=0.6931;1000g2015aug_all=0.666134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:573,0,547 1 78534616 rs505301 T C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.036;SOR=2.245;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGIPC2;Func=intronic;Gene=NM_001304725,NM_017655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370759.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs505301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.1641;1000g2015aug_amr=0.1585;1000g2015aug_all=0.240016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 1 78546703 rs628451 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGIPC2;Func=intronic;Gene=NM_001304725,NM_017655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370759.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs628451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.8069;1000g2015aug_all=0.889177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 78560583 rs565164 G A 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.27;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-0.1;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGIPC2;Func=intronic;Gene=NM_001304725,NM_017655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370759.3,ENST00000365393.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e659\x3bName\x3e"171491:5S(rRNA)";avsnp150=rs565164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.1604;1000g2015aug_amr=0.1585;1000g2015aug_all=0.238219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:527,0,268 1 78578177 rs6666954 T C 1375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.786;DP=90;ExcessHet=3.0103;FS=2.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.183;SOR=0.449;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGIPC2;Func=intronic;Gene=NM_001304725,NM_017655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370759.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666954;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.2896;1000g2015aug_all=0.448882;esp6500siv2_all=0.3729;ExAC_ALL=0.3224;ExAC_AFR=0.6061;ExAC_AMR=0.2521;ExAC_EAS=0.6258;ExAC_FIN=0.2058;ExAC_NFE=0.2826;ExAC_OTH=0.2952;ExAC_SAS=0.2755;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,51:90:99:1404,0,1069 1 78585086 rs540742 T C 695.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.011;DP=50;ExcessHet=3.0103;FS=1.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.864;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGIPC2;Func=exonic;Gene=NM_001304725,NM_017655;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GIPC2:NM_001304725:exon4:c.T395C:p.L132P,GIPC2:NM_017655:exon4:c.T617C:p.L206P;Gencode=Name\x3eENST00000370759.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs540742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6637;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.1758;1000g2015aug_all=0.307109;esp6500siv2_all=0.2205;ExAC_ALL=0.2531;ExAC_AFR=0.2215;ExAC_AMR=0.1764;ExAC_EAS=0.6679;ExAC_FIN=0.1665;ExAC_NFE=0.2266;ExAC_OTH=0.2392;ExAC_SAS=0.2504;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.355;MutationAssessor_pred=N;FATHMM_score=-1.39;FATHMM_pred=T;phyloP100way_vertebrate=2.409;phyloP20way_mammalian=-0.328;SiPhy_29way_logOdds=9.103;gerp++gt2=4.68;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,25:50:99:724,0,724 1 78865431 rs72672190 T A 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027310,NM_000959;GeneDetail=dist\x3e30284\x3bdist\x3e91297;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370758.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72672190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0159;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 78865467 rs626063 G T 96.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027310,NM_000959;GeneDetail=dist\x3e30320\x3bdist\x3e91261;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370758.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2195\x3bName\x3e"172042:AluJo(SINE)";avsnp150=rs626063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.7689;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.5643;1000g2015aug_amr=0.7046;1000g2015aug_all=0.680711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:125,15,0 1 78958277 rs35978825 C T 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.53;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=1.521;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFR;Func=intronic;Gene=NM_000959,NM_001039585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370757.7,ENST00000370758.5,ENST00000370756.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35978825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0744;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0807;1000g2015aug_all=0.0830671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:233,0,216 1 78963437 rs1322934 G A 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.711;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.388;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFR;Func=intronic;Gene=NM_000959,NM_001039585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370756.3,ENST00000370758.5,ENST00000370757.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1322934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.1225;1000g2015aug_all=0.178315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:207,0,161 1 79001920 rs12060353 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFR;Func=intronic;Gene=NM_000959,NM_001039585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370756.3,ENST00000370758.5,ENST00000370757.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12060353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.1225;1000g2015aug_all=0.136581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 79002504 rs41298537 T A 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.198;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.934;SOR=0.175;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFR;Func=UTR3;Gene=NM_000959,NM_001039585;GeneDetail=NM_000959:c.*132T>A\x3bNM_001039585:c.*389T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370756.3,ENST00000370757.7,ENST00000370758.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41298537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00259585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:216,0,250 1 79002544 rs12074883 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFR;Func=UTR3;Gene=NM_000959,NM_001039585;GeneDetail=NM_000959:c.*172C>T\x3bNM_001039585:c.*429C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370758.5,ENST00000370757.7,ENST00000370756.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12074883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.1182;1000g2015aug_all=0.127396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 79009527 rs36037890 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000959,NM_006820;GeneDetail=dist\x3e3141\x3bdist\x3e76540;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3068\x3bName\x3e"172269:LTR3B_(LTR)";avsnp150=rs36037890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.165;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.0994;1000g2015aug_all=0.111222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 79094593 rs273257 A G 577.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI44L;Func=intronic;Gene=NM_006820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370751.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs273257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.99361;esp6500siv2_all=0.9875;ExAC_ALL=0.9855;ExAC_AFR=0.9975;ExAC_AMR=0.9937;ExAC_EAS=1;ExAC_FIN=0.9648;ExAC_NFE=0.9812;ExAC_OTH=0.9810;ExAC_SAS=0.9906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:606,63,0 1 79106967 rs11577394 C T 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.283;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI44L;Func=intronic;Gene=NM_006820;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370751.9;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.273;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.3948;1000g2015aug_all=0.215655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,310 1 79214864 rs2767494 G C 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006417,NM_022159;GeneDetail=dist\x3e85101\x3bdist\x3e140585;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2767494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.671;1000g2015aug_amr=0.7334;1000g2015aug_all=0.656949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,152 1 79214869 rs1629252 A G 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=0.253;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006417,NM_022159;GeneDetail=dist\x3e85106\x3bdist\x3e140580;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1629252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.671;1000g2015aug_amr=0.7334;1000g2015aug_all=0.656949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,152 1 79216267 rs1780743 G C 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.444;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.723;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006417,NM_022159;GeneDetail=dist\x3e86504\x3bdist\x3e139182;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1780743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.908;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.848;1000g2015aug_amr=0.9006;1000g2015aug_all=0.894968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:260,0,176 1 79281057 rs1937031 C T 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006417,NM_022159;GeneDetail=dist\x3e151294\x3bdist\x3e74392;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e445\x3bName\x3e"172692:L2a(LINE)";avsnp150=rs1937031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9902;1000g2015aug_amr=1;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 79338435 rs1780709 T G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.029;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006417,NM_022159;GeneDetail=dist\x3e208672\x3bdist\x3e17014;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22205\x3bName\x3e"172780:HERVH-int(LTR)";avsnp150=rs1780709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.444;1000g2015aug_amr=0.7522;1000g2015aug_all=0.69389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:218,0,184 1 79355596 rs1061728 A G 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.591;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.707;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=UTR3;Gene=NM_022159;GeneDetail=NM_022159:c.*1243T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.8213;1000g2015aug_all=0.758387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:261,0,158 1 79383458 rs12569007 A T 461.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12569007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.6974;1000g2015aug_all=0.636182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:490,45,0 1 79387676 rs6658041 G A 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.3374;1000g2015aug_amr=0.6513;1000g2015aug_all=0.558506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:32:63,0,32 1 79392410 rs17102419 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17102419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.6902;1000g2015aug_all=0.633586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79392756 rs12754818 C A 665.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=exonic;Gene=NM_022159;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADGRL4:NM_022159:exon8:c.G898T:p.V300L;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12754818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.6844;1000g2015aug_all=0.620607;esp6500siv2_all=0.6046;ExAC_ALL=0.6478;ExAC_AFR=0.5149;ExAC_AMR=0.7028;ExAC_EAS=0.6999;ExAC_FIN=0.6762;ExAC_NFE=0.6430;ExAC_OTH=0.6417;ExAC_SAS=0.6698;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.085;MutationAssessor_pred=N;FATHMM_score=2.73;FATHMM_pred=T;phyloP100way_vertebrate=1.395;phyloP20way_mammalian=-0.529;SiPhy_29way_logOdds=5.264;gerp++gt2=3.74;CADD=1.469;CADD_Phred=13.15;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:694,63,0 1 79401927 rs61770681 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"172842:(TACATA)n(Simple_repeat)";avsnp150=rs61770681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.6844;1000g2015aug_all=0.620807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79403335 rs1352555 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1352555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.612;1000g2015aug_amr=0.7752;1000g2015aug_all=0.711062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79403751 rs985277 T G 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.987;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.165;SOR=0.848;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs985277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.6585;1000g2015aug_all=0.592252;esp6500siv2_all=0.5587;ExAC_ALL=0.6127;ExAC_AFR=0.4828;ExAC_AMR=0.6893;ExAC_EAS=0.6993;ExAC_FIN=0.6544;ExAC_NFE=0.6035;ExAC_OTH=0.6036;ExAC_SAS=0.6120;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,26:52:99:613,0,680 1 79411820 rs80233432 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80233432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.046;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0283546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 1 79411828 rs2035724 C A 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2035724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.135;1000g2015aug_eur=0.0825;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.098;1000g2015aug_all=0.165136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 1 79411888 rs723898 T C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.248;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=1.083;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs723898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.5865;1000g2015aug_all=0.456669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,233 1 79448723 rs12025930 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e520\x3bName\x3e"172912:L1MEd(LINE)";avsnp150=rs12025930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.6715;1000g2015aug_all=0.634185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 79471959 rs1571991 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1571991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.6544;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.5015;1000g2015aug_amr=0.7233;1000g2015aug_all=0.651957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 79472141 rs1571992 C A 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.617;DP=16;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.573;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL4;Func=intronic;Gene=NM_022159;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370742.3;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1571992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.6544;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.5015;1000g2015aug_amr=0.719;1000g2015aug_all=0.651358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:263,0,174 1 79520923 rs17131734 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e48428\x3bdist\x3e1480517;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.909592\x3bName\x3echr8:49739195;Repeat=.;avsnp150=rs17131734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.2522;1000g2015aug_all=0.19349;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 79578919 rs2087195 G T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e106424\x3bdist\x3e1422521;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1272\x3bName\x3e"173128:LTR16B1(LTR)";avsnp150=rs2087195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9899;1000g2015aug_all=0.963458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 79688299 rs12134980 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e215804\x3bdist\x3e1313141;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"173331:(TA)n(Simple_repeat)";avsnp150=rs12134980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 79688301 rs57058133 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e215806\x3bdist\x3e1313139;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"173331:(TA)n(Simple_repeat)";avsnp150=rs57058133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 79706506 rs228470 T C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e234011\x3bdist\x3e1294934;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2026\x3bName\x3e"173356:THE1D(LTR)";avsnp150=rs228470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.3228;1000g2015aug_all=0.457867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 79706577 rs228469 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e234082\x3bdist\x3e1294863;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2026\x3bName\x3e"173356:THE1D(LTR)";avsnp150=rs228469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.3228;1000g2015aug_all=0.457867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79737179 rs75029072 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e264684\x3bdist\x3e1264261;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7132\x3bName\x3e"173405:L1PA12(LINE)";avsnp150=rs75029072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0209;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0072;1000g2015aug_all=0.0283546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79737283 rs7516463 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e264788\x3bdist\x3e1264157;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7132\x3bName\x3e"173405:L1PA12(LINE)";avsnp150=rs7516463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4325;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.2882;1000g2015aug_all=0.433506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 79782471 rs1999408 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e309976\x3bdist\x3e1218969;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1900\x3bName\x3e"173477:L1MC5(LINE)";avsnp150=rs1999408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.851;1000g2015aug_amr=0.5058;1000g2015aug_all=0.685903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 80696052 rs1776313 C T 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1223557\x3bdist\x3e305388;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2098\x3bName\x3e"174937:MSTA(LTR)";avsnp150=rs1776313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.7699;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.5227;1000g2015aug_amr=0.7824;1000g2015aug_all=0.709665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 80916795 rs1541775 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1444300\x3bdist\x3e84645;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.917889\x3bName\x3echr8:82291327;Repeat=.;avsnp150=rs1541775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9947;1000g2015aug_amr=1;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 80916878 rs1971089 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1444383\x3bdist\x3e84562;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.917889\x3bName\x3echr8:82291327;Repeat=.;avsnp150=rs1971089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9902;1000g2015aug_amr=1;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 80929598 rs1365750 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1457103\x3bdist\x3e71842;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1365750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6994;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.8012;1000g2015aug_all=0.648163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 80961879 rs1966551 A C 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1489384\x3bdist\x3e39561;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1966551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.8328;1000g2015aug_amr=0.9438;1000g2015aug_all=0.851637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 80962020 rs1469340 T C 133.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022159,NR_125941;GeneDetail=dist\x3e1489525\x3bdist\x3e39420;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1469340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8262;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.9121;1000g2015aug_all=0.821685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:161,12,0 1 81034176 . T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927412;Func=ncRNA_intronic;Gene=NR_125940,NR_125941;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437080.1,ENST00000443104.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81034206 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927412;Func=ncRNA_intronic;Gene=NR_125940,NR_125941;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437080.1,ENST00000443104.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81244064 rs11163111 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e131591\x3bdist\x3e735501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13918\x3bName\x3e"175775:L1PA15(LINE)";avsnp150=rs11163111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.4308;1000g2015aug_all=0.353435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 81244897 rs61770042 G A 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e132424\x3bdist\x3e734668;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13918\x3bName\x3e"175775:L1PA15(LINE)";avsnp150=rs61770042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.2839;1000g2015aug_all=0.238818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:25:84,0,25 1 81266628 rs7517545 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e154155\x3bdist\x3e712937;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.5613;1000g2015aug_amr=0.6585;1000g2015aug_all=0.6248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 81321500 rs76191323 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e209027\x3bdist\x3e658065;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e516\x3bName\x3e"175881:L1ME2z(LINE)";avsnp150=rs76191323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.053;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0666933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81321504 rs116641858 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e209031\x3bdist\x3e658061;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e516\x3bName\x3e"175881:L1ME2z(LINE)";avsnp150=rs116641858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0509185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81495301 rs7544084 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e382828\x3bdist\x3e484264;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1079\x3bName\x3e"176150:MER20(DNA)";avsnp150=rs7544084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9986;1000g2015aug_all=0.985024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 81848248 rs7554418 A C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e735775\x3bdist\x3e131317;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370730.5,ENST00000370723.5,ENST00000370725.5,ENST00000370727.5,ENST00000370721.5,ENST00000370728.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 81892824 rs79545001 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e780351\x3bdist\x3e86741;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370727.5,ENST00000370730.5,ENST00000370723.5,ENST00000370725.5,ENST00000370721.5,ENST00000370728.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.906426\x3bName\x3echr12:51711740;Repeat=.;avsnp150=rs79545001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0980431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81892826 rs12121921 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125941,NR_125943;GeneDetail=dist\x3e780353\x3bdist\x3e86739;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370721.5,ENST00000370728.5,ENST00000370727.5,ENST00000370730.5,ENST00000370723.5,ENST00000370725.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.906426\x3bName\x3echr12:51711740;Repeat=.;avsnp150=rs12121921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.6254;1000g2015aug_all=0.543331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81996137 rs11806064 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927434;Func=ncRNA_intronic;Gene=NR_125943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370723.5,ENST00000370725.5,ENST00000370730.5,ENST00000370727.5,ENST00000443939.1,ENST00000370728.5,ENST00000370721.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1993\x3bName\x3e"176941:AluJb(SINE)";avsnp150=rs11806064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.7248;1000g2015aug_all=0.810304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 81996477 rs10493694 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927434;Func=ncRNA_intronic;Gene=NR_125943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370725.5,ENST00000370723.5,ENST00000370730.5,ENST00000443939.1,ENST00000370727.5,ENST00000370728.5,ENST00000370721.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.7262;1000g2015aug_all=0.810503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 82022763 rs12089116 A C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927434;Func=ncRNA_intronic;Gene=NR_125943;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370728.5,ENST00000370721.5,ENST00000370730.5,ENST00000370725.5,ENST00000370723.5,ENST00000443939.1,ENST00000370727.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12089116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.8262;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.795;1000g2015aug_amr=0.7435;1000g2015aug_all=0.806709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 82236046 rs12074168 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370727.5,ENST00000370725.5,ENST00000370723.5,ENST00000370730.5,ENST00000359929.7,ENST00000370721.5,ENST00000370728.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2046\x3bName\x3e"177403:AluSg(SINE)";avsnp150=rs12074168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.168;1000g2015aug_afr=0.3495;1000g2015aug_amr=0.1859;1000g2015aug_all=0.188898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 82256238 rs11163377 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370730.5,ENST00000370725.5,ENST00000370723.5,ENST00000370727.5,ENST00000370728.5,ENST00000370721.5,ENST00000359929.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11163377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.4006;1000g2015aug_all=0.460264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 82260858 rs34888663 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370728.5,ENST00000370721.5,ENST00000359929.7,ENST00000370727.5,ENST00000370730.5,ENST00000370723.5,ENST00000370725.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1563\x3bName\x3e"177458:AluJo(SINE)";avsnp150=rs34888663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.184;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.049;1000g2015aug_all=0.0710863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 82302600 rs12064537 T C 1149.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=UTR5;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=NM_001297704:c.-70T>C\x3bNM_001297705:c.-70T>C\x3bNM_001297706:c.-70T>C\x3bNM_001330645:c.-70T>C\x3bNM_001350698:c.-70T>C\x3bNM_001350699:c.-70T>C\x3bNM_012302:c.-70T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370715.5,ENST00000370717.6,ENST00000359929.7,ENST00000370728.5,ENST00000370721.5,ENST00000370723.5,ENST00000370725.5,ENST00000319517.10,ENST00000370730.5,ENST00000370727.5,ENST00000627151.2,ENST00000370713.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12064537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.2666;1000g2015aug_all=0.320487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1178,116,0 1 82340753 rs406304 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370713.5,ENST00000627151.2,ENST00000370727.5,ENST00000319517.10,ENST00000370730.5,ENST00000370725.5,ENST00000370723.5,ENST00000370728.5,ENST00000370721.5,ENST00000359929.7,ENST00000370715.5,ENST00000370717.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs406304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.8132;1000g2015aug_amr=0.768;1000g2015aug_all=0.877196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 82415814 rs9438715 T C 616.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370728.5,ENST00000370721.5,ENST00000359929.7,ENST00000370715.5,ENST00000370717.6,ENST00000370713.5,ENST00000627151.2,ENST00000370727.5,ENST00000370730.5,ENST00000319517.10,ENST00000370725.5,ENST00000370723.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9438715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9942;1000g2015aug_all=0.99361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:645,57,0 1 82416220 rs2148630 G A 886.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.11;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370725.5,ENST00000370723.5,ENST00000370730.5,ENST00000319517.10,ENST00000370727.5,ENST00000370713.5,ENST00000627151.2,ENST00000370717.6,ENST00000370715.5,ENST00000359929.7,ENST00000370721.5,ENST00000370728.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2148630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.7839;1000g2015aug_all=0.757987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:915,78,0 1 82417552 rs7413275 T G 652.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.46;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359929.7,ENST00000370728.5,ENST00000370721.5,ENST00000370717.6,ENST00000370715.5,ENST00000370727.5,ENST00000627151.2,ENST00000370713.5,ENST00000370723.5,ENST00000370725.5,ENST00000319517.10,ENST00000370730.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7413275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.7334;1000g2015aug_all=0.66274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:681,54,0 1 82421596 rs11163397 C T 1231.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=exonic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P;Gencode=Name\x3eENST00000370727.5,ENST00000627151.2,ENST00000370713.5,ENST00000370723.5,ENST00000370725.5,ENST00000319517.10,ENST00000370730.5,ENST00000359929.7,ENST00000370721.5,ENST00000370728.5,ENST00000370717.6,ENST00000370715.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11163397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9942;1000g2015aug_all=0.99401;esp6500siv2_all=0.9920;ExAC_ALL=0.9979;ExAC_AFR=0.9770;ExAC_AMR=0.9987;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1260,120,0 1 82450053 rs6598979 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370717.6,ENST00000370715.5,ENST00000359929.7,ENST00000370721.5,ENST00000370728.5,ENST00000370725.5,ENST00000370723.5,ENST00000319517.10,ENST00000370730.5,ENST00000370727.5,ENST00000370713.5,ENST00000627151.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6598979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 82450194 rs1154816 C A 306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.268;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.164;SOR=0.313;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370717.6,ENST00000370715.5,ENST00000370721.5,ENST00000370728.5,ENST00000359929.7,ENST00000319517.10,ENST00000370730.5,ENST00000370723.5,ENST00000370725.5,ENST00000627151.2,ENST00000370713.5,ENST00000370727.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1154816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.165;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.3184;1000g2015aug_all=0.326278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:335,0,315 1 82450758 rs3790872 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370725.5,ENST00000370723.5,ENST00000370730.5,ENST00000319517.10,ENST00000370727.5,ENST00000370713.5,ENST00000627151.2,ENST00000370717.6,ENST00000370715.5,ENST00000359929.7,ENST00000370728.5,ENST00000370721.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.165;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.3184;1000g2015aug_all=0.326278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 82450844 rs1409765 C G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.402;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.608;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADGRL2;Func=intronic;Gene=NM_001297704,NM_001297705,NM_001297706,NM_001330645,NM_001350698,NM_001350699,NM_012302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370721.5,ENST00000370728.5,ENST00000359929.7,ENST00000370715.5,ENST00000370717.6,ENST00000627151.2,ENST00000370713.5,ENST00000370727.5,ENST00000370730.5,ENST00000319517.10,ENST00000370723.5,ENST00000370725.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1409765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.165;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.3184;1000g2015aug_all=0.326278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:331,0,244 1 82467249 rs8179400 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e7633\x3bdist\x3e901618;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8179400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.3487;1000g2015aug_all=0.355631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 82542281 rs6598985 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e82665\x3bdist\x3e826586;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6598985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.8156;1000g2015aug_all=0.84345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 82563290 rs12121851 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e103674\x3bdist\x3e805577;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.3588;1000g2015aug_all=0.407748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 82715214 rs2784745 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e255598\x3bdist\x3e653653;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420549.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1798\x3bName\x3e"178052:AluJb(SINE)";avsnp150=rs2784745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.3775;1000g2015aug_all=0.383187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 82715226 rs2784744 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e255610\x3bdist\x3e653641;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420549.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1798\x3bName\x3e"178052:AluJb(SINE)";avsnp150=rs2784744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.3746;1000g2015aug_all=0.355232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83154657 rs1655360 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e695042\x3bdist\x3e214209;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3958\x3bName\x3e"178801:LTR27E(LTR)";avsnp150=rs1655360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.4942;1000g2015aug_all=0.571685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83154663 rs1655361 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e695048\x3bdist\x3e214203;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3958\x3bName\x3e"178801:LTR27E(LTR)";avsnp150=rs1655361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.4942;1000g2015aug_all=0.571685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83283974 rs1280838 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297704,NR_147074;GeneDetail=dist\x3e824359\x3bdist\x3e84892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2304\x3bName\x3e"179022:AluY(SINE)";avsnp150=rs1280838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.5877;1000g2015aug_amr=0.4308;1000g2015aug_all=0.461462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83641319 rs804041 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.16;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e8821\x3bdist\x3e270418;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984017\x3bName\x3echr7:76553028;Repeat=.;avsnp150=rs804041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 83641334 rs804042 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.16;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e8836\x3bdist\x3e270403;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984017\x3bName\x3echr7:76553028;Repeat=.;avsnp150=rs804042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 83815801 rs71666186 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.93;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e183303\x3bdist\x3e95936;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984668\x3bName\x3echr7:76651384;Repeat=Score\x3e2366\x3bName\x3e"179881:AluSc(SINE)";avsnp150=rs71666186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.1657;1000g2015aug_all=0.177117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 83850571 rs12131630 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e218073\x3bdist\x3e61166;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984668\x3bName\x3echr7:76651384;Repeat=Score\x3e11634\x3bName\x3e"179931:L1MC1(LINE)";avsnp150=rs12131630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.1628;1000g2015aug_all=0.187899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83850587 rs12130836 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e218089\x3bdist\x3e61150;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984668\x3bName\x3echr7:76651384;Repeat=Score\x3e11634\x3bName\x3e"179931:L1MC1(LINE)";avsnp150=rs12130836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.3926;1000g2015aug_amr=0.3098;1000g2015aug_all=0.275359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 83850607 rs12134235 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147074,NR_146478;GeneDetail=dist\x3e218109\x3bdist\x3e61130;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=Score\x3e0.984668\x3bName\x3echr7:76651384;Repeat=Score\x3e2277\x3bName\x3e"179932:AluSc(SINE)";avsnp150=rs12134235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.3926;1000g2015aug_amr=0.3098;1000g2015aug_all=0.275359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84107389 rs12406057 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927587;Func=ncRNA_intronic;Gene=NR_119375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417975.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12406057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.2046;1000g2015aug_all=0.18111;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 84144004 rs7522536 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927587;Func=ncRNA_intronic;Gene=NR_119375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417975.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9942;1000g2015aug_all=0.988019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 84144127 rs7522633 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927587;Func=ncRNA_intronic;Gene=NR_119375;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417975.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9942;1000g2015aug_all=0.988019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 84355418 rs11163862 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL7;Func=intronic;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260505.12;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e182\x3bName\x3e"180740:L2c(LINE)";avsnp150=rs11163862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.2511;1000g2015aug_amr=0.5216;1000g2015aug_all=0.376198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 84382844 rs1324484 T C 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL7;Func=intronic;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260505.12,ENST00000610996.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1324484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.4914;1000g2015aug_all=0.338658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 84383079 rs17534614 G A 549.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL7;Func=intronic;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610996.1,ENST00000260505.12;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17534614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.143;1000g2015aug_amr=0.4885;1000g2015aug_all=0.331669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:578,42,0 1 84464468 rs1871925 C G 146.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTLL7;Func=intronic;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260505.12,ENST00000610996.1;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1871925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.4885;1000g2015aug_all=0.33107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:175,21,0 1 84465057 rs575577 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs575577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.8473;1000g2015aug_all=0.825479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 84465073 rs1536165 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001350214,NM_001350215,NM_024686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.4207;1000g2015aug_all=0.297324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 84551736 rs12404263 G A 341.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.41;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKACB;Func=intronic;Gene=NM_002731,NM_207578;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370688.7,ENST00000370689.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12404263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.2746;1000g2015aug_amr=0.3487;1000g2015aug_all=0.324681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:370,42,0 1 84597023 rs12742131 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKACB;Func=intronic;Gene=NM_002731,NM_207578;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370688.7,ENST00000370689.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2003\x3bName\x3e"181172:AluSp(SINE)";avsnp150=rs12742131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.3833;1000g2015aug_all=0.421526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84640691 rs582201 T G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKACB;Func=intronic;Gene=NM_001242857,NM_001242858,NM_001242859,NM_001242860,NM_001242861,NM_001300915,NM_001300916,NM_001300917,NM_002731,NM_182948,NM_207578;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370688.7,ENST00000370689.6,ENST00000614872.4,ENST00000394838.6,ENST00000610703.4,ENST00000370685.7,ENST00000370680.5,ENST00000394839.6,ENST00000370682.7,ENST00000370684.5,ENST00000446538.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs582201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.995;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.9467;1000g2015aug_all=0.952875;esp6500siv2_all=.;ExAC_ALL=0.9778;ExAC_AFR=0.9311;ExAC_AMR=0.9426;ExAC_EAS=0.9346;ExAC_FIN=0.9984;ExAC_NFE=0.9939;ExAC_OTH=0.9964;ExAC_SAS=0.9760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 84701251 rs600674 T C 309.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRKACB;Func=UTR3;Gene=NM_001242857,NM_001242858,NM_001242859,NM_001242860,NM_001242861,NM_001242862,NM_002731,NM_182948;GeneDetail=NM_001242857:c.*263T>C\x3bNM_001242858:c.*263T>C\x3bNM_001242859:c.*263T>C\x3bNM_001242860:c.*263T>C\x3bNM_001242861:c.*263T>C\x3bNM_001242862:c.*263T>C\x3bNM_002731:c.*263T>C\x3bNM_182948:c.*263T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370682.7,ENST00000394839.6,ENST00000610457.1,ENST00000610703.4,ENST00000370685.7,ENST00000614872.4,ENST00000394838.6,ENST00000370689.6;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs600674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.8084;1000g2015aug_all=0.788938;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:338,30,0 1 84745363 rs316667 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002731,NM_001010971;GeneDetail=dist\x3e41182\x3bdist\x3e18686;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs316667;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.987;1000g2015aug_all=0.955072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84745373 rs1983077 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002731,NM_001010971;GeneDetail=dist\x3e41192\x3bdist\x3e18676;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1983077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.7305;1000g2015aug_all=0.707268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84745473 rs316666 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002731,NM_001010971;GeneDetail=dist\x3e41292\x3bdist\x3e18576;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs316666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.9784;1000g2015aug_all=0.930911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 84753716 rs316639 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002731,NM_001010971;GeneDetail=dist\x3e49535\x3bdist\x3e10333;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6324\x3bName\x3e"181434:MER11B(LTR)";avsnp150=rs316639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8274;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.5346;1000g2015aug_all=0.673522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 84753814 rs316640 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002731,NM_001010971;GeneDetail=dist\x3e49633\x3bdist\x3e10235;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e699\x3bName\x3e"181435:L1M6(LINE)";avsnp150=rs316640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.9942;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 84791239 rs315555 T C 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD13;Func=intronic;Gene=NM_001010971,NM_001134663,NM_001134664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370669.5,ENST00000370671.7,ENST00000394834.7,ENST00000370673.7,ENST00000370668.7,ENST00000370670.2;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs315555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8562;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.8242;1000g2015aug_all=0.878395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 84791317 rs182945508 C T 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.057;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.683;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD13;Func=intronic;Gene=NM_001010971,NM_001134663,NM_001134664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370669.5,ENST00000370671.7,ENST00000370673.7,ENST00000394834.7,ENST00000370670.2,ENST00000370668.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs182945508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0020;ExAC_ALL=0.0038;ExAC_AFR=9.615e-05;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0276;ExAC_NFE=0.0038;ExAC_OTH=0.0077;ExAC_SAS=0.0010;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:264,0,173 1 84810345 rs186405 G A 299.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD13;Func=intronic;Gene=NM_001010971,NM_001134663,NM_001134664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370671.7,ENST00000370669.5,ENST00000370670.2,ENST00000370668.7,ENST00000370673.7,ENST00000394834.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs186405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.7622;1000g2015aug_all=0.774561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:328,24,0 1 84810396 rs315528 A C 761.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD13;Func=intronic;Gene=NM_001010971,NM_001134663,NM_001134664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394834.7,ENST00000370673.7,ENST00000370668.7,ENST00000370670.2,ENST00000370669.5,ENST00000370671.7;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs315528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.7622;1000g2015aug_all=0.77516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:790,57,0 1 84810815 rs315527 A G 2100.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSAMD13;Func=intronic;Gene=NM_001010971,NM_001134663,NM_001134664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370670.2,ENST00000370668.7,ENST00000370673.7,ENST00000394834.7,ENST00000370671.7,ENST00000370669.5;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs315527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8581;1000g2015aug_sas=0.9785;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.8602;1000g2015aug_all=0.933307;esp6500siv2_all=.;ExAC_ALL=0.9839;ExAC_AFR=0.9442;ExAC_AMR=0.9551;ExAC_EAS=0.9023;ExAC_FIN=1;ExAC_NFE=0.9903;ExAC_OTH=0.9762;ExAC_SAS=0.9859;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2129,194,0 1 84853505 rs556539 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003927,NM_021233;GeneDetail=dist\x3e3021\x3bdist\x3e10710;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs556539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.2133;1000g2015aug_all=0.226837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84853511 rs585935 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003927,NM_021233;GeneDetail=dist\x3e3027\x3bdist\x3e10704;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs585935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.728;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.7795;1000g2015aug_all=0.746406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 84854282 rs663708 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003927,NM_021233;GeneDetail=dist\x3e3798\x3bdist\x3e9933;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2010\x3bName\x3e"181587:AluJb(SINE)";avsnp150=rs663708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9827;1000g2015aug_all=0.984425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 84854440 rs548310 G A 61.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003927,NM_021233;GeneDetail=dist\x3e3956\x3bdist\x3e9775;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2010\x3bName\x3e"181587:AluJb(SINE)";avsnp150=rs548310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.5651;1000g2015aug_amr=0.7709;1000g2015aug_all=0.733227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:89,9,0 1 84873835 rs1981254 A G 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.33;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNASE2B;Func=intronic;Gene=NM_021233;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370665.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1981254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.528;1000g2015aug_amr=0.585;1000g2015aug_all=0.548323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 84876731 rs1506700 T G 877.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=2.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNASE2B;Func=intronic;Gene=NM_021233,NM_058248;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370665.3,ENST00000370662.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1506700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.585;1000g2015aug_all=0.544728;esp6500siv2_all=0.5185;ExAC_ALL=0.5167;ExAC_AFR=0.5081;ExAC_AMR=0.6137;ExAC_EAS=0.5707;ExAC_FIN=0.4841;ExAC_NFE=0.5069;ExAC_OTH=0.4949;ExAC_SAS=0.5254;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:86:906,86,0 1 84878228 rs7511984 C T 956.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNASE2B;Func=exonic;Gene=NM_021233,NM_058248;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNASE2B:NM_058248:exon3:c.C120T:p.D40D,DNASE2B:NM_021233:exon5:c.C744T:p.D248D;Gencode=Name\x3eENST00000370662.3,ENST00000370665.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7511984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.0937;1000g2015aug_all=0.135583;esp6500siv2_all=0.1851;ExAC_ALL=0.1681;ExAC_AFR=0.2020;ExAC_AMR=0.1468;ExAC_EAS=0.0081;ExAC_FIN=0.2247;ExAC_NFE=0.1727;ExAC_OTH=0.1830;ExAC_SAS=0.2070;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:985,87,0 1 84878380 rs3116423 A G 602.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNASE2B;Func=intronic;Gene=NM_021233,NM_058248;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370662.3,ENST00000370665.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3116423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.9899;1000g2015aug_all=0.985623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:631,60,0 1 84944989 rs2292191 A G 1522.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.912;DP=146;ExcessHet=3.0103;FS=7.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.59;SOR=0.815;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPF1;Func=exonic;Gene=NM_025065;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RPF1:NM_025065:exon1:c.A25G:p.S9G;Gencode=Name\x3eENST00000370656.5,ENST00000370654.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.4806;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.4625;1000g2015aug_all=0.490415;esp6500siv2_all=0.5091;ExAC_ALL=0.5782;ExAC_AFR=0.2497;ExAC_AMR=0.5103;ExAC_EAS=0.7672;ExAC_FIN=0.6982;ExAC_NFE=0.6294;ExAC_OTH=0.5868;ExAC_SAS=0.4789;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.108;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=0.98;FATHMM_pred=T;phyloP100way_vertebrate=1.050;phyloP20way_mammalian=-1.094;SiPhy_29way_logOdds=7.449;gerp++gt2=3.35;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,55:146:99:1551,0,2737 1 84946745 rs7413066 C T 437.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.36;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPF1;Func=intronic;Gene=NM_025065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370656.5,ENST00000370654.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7413066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988419;esp6500siv2_all=0.9854;ExAC_ALL=0.9962;ExAC_AFR=0.9572;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:466,48,0 1 84963000 rs1246159 A G 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-1.645;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPF1;Func=intronic;Gene=NM_025065;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370654.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1246159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.5173;1000g2015aug_all=0.466853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:64:64,0,69 1 84982259 rs2794218 T C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.328;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=1.368;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA1;Func=intronic;Gene=NM_001310156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1520\x3bName\x3e"181819:L2a(LINE)";avsnp150=rs2794218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.5403;1000g2015aug_all=0.498003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,112 1 84991488 rs2292808 T G 238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.66;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=-0.778;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA1;Func=intronic;Gene=NM_001310156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.2507;1000g2015aug_all=0.21885;esp6500siv2_all=0.1722;ExAC_ALL=0.2005;ExAC_AFR=0.1900;ExAC_AMR=0.2526;ExAC_EAS=0.1737;ExAC_FIN=0.1518;ExAC_NFE=0.1756;ExAC_OTH=0.1991;ExAC_SAS=0.3032;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:92:267,0,92 1 84998445 rs6690204 C G 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.154;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.39;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA1;Func=intronic;Gene=NM_001310156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.3516;1000g2015aug_all=0.370407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,15:26:99:446,0,313 1 84999571 rs10874451 T C 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.618;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA1;Func=intronic;Gene=NM_001310156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.3501;1000g2015aug_all=0.370807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:215,0,215 1 85009894 rs12143652 A G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.554;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=2.184;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA1;Func=exonic;Gene=NM_001310156;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA1:NM_001310156:exon9:c.A793G:p.K265E;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12143652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.1614;1000g2015aug_all=0.235823;esp6500siv2_all=0.2319;ExAC_ALL=0.3230;ExAC_AFR=0.3025;ExAC_AMR=0.2245;ExAC_EAS=0.2464;ExAC_FIN=0.2557;ExAC_NFE=0.3269;ExAC_OTH=0.3059;ExAC_SAS=0.4090;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,5:20:99:115,0,430 1 85029077 rs15911 C T 612.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.035;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-0.677;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=exonic;Gene=NM_004388;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CTBS:NM_004388:exon6:c.G820A:p.V274I;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.1254;1000g2015aug_all=0.148163;esp6500siv2_all=0.1872;ExAC_ALL=0.1973;ExAC_AFR=0.1332;ExAC_AMR=0.0813;ExAC_EAS=0.0316;ExAC_FIN=0.1818;ExAC_NFE=0.2228;ExAC_OTH=0.2104;ExAC_SAS=0.3068;SIFT_score=0.109;SIFT_pred=T;Polyphen2_HDIV_score=0.489;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.257;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.017;MutationTaster_pred=P;MutationAssessor_score=3.1;MutationAssessor_pred=M;FATHMM_score=3.21;FATHMM_pred=T;phyloP100way_vertebrate=0.738;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=5.745;gerp++gt2=2.56;CADD=3.178;CADD_Phred=22.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,25:38:99:641,0,293 1 85031630 rs2994953 G A 1302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.254;DP=96;ExcessHet=3.0103;FS=0.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.151;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=exonic;Gene=NM_004388;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTBS:NM_004388:exon4:c.C591T:p.I197I;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2994953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.3404;1000g2015aug_amr=0.2637;1000g2015aug_all=0.296725;esp6500siv2_all=0.2820;ExAC_ALL=0.2713;ExAC_AFR=0.3292;ExAC_AMR=0.2030;ExAC_EAS=0.2140;ExAC_FIN=0.1991;ExAC_NFE=0.2607;ExAC_OTH=0.2676;ExAC_SAS=0.3846;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,51:96:99:1331,0,1046 1 85036239 rs2303306 C G 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=40;ExcessHet=3.0103;FS=1.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.325;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=intronic;Gene=NM_004388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2303306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.3617;1000g2015aug_all=0.440495;esp6500siv2_all=0.4211;ExAC_ALL=0.3371;ExAC_AFR=0.7026;ExAC_AMR=0.2770;ExAC_EAS=0.2165;ExAC_FIN=0.2223;ExAC_NFE=0.2915;ExAC_OTH=0.3240;ExAC_SAS=0.4510;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:566,0,579 1 85039828 rs41299545 G A 1525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.582;DP=109;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.307;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=intronic;Gene=NM_004388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41299545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.3033;1000g2015aug_amr=0.255;1000g2015aug_all=0.288738;esp6500siv2_all=.;ExAC_ALL=0.3634;ExAC_AFR=0.3732;ExAC_AMR=0.2895;ExAC_EAS=0.2323;ExAC_FIN=0.3061;ExAC_NFE=0.3304;ExAC_OTH=0.3846;ExAC_SAS=0.4016;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,59:109:99:1554,0,1318 1 85039955 rs2303307 G A 1263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.86;DP=78;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.067;SOR=1.009;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=exonic;Gene=NM_004388;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTBS:NM_004388:exon1:c.C144T:p.L48L;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2303307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.2464;1000g2015aug_all=0.274161;esp6500siv2_all=0.2501;ExAC_ALL=0.3475;ExAC_AFR=0.3431;ExAC_AMR=0.2988;ExAC_EAS=0.2918;ExAC_FIN=0.3072;ExAC_NFE=0.3361;ExAC_OTH=0.3862;ExAC_SAS=0.4284;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,45:77:99:1292,0,948 1 85040069 rs2911592 G A 655.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.496;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=-0.779;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=exonic;Gene=NM_004388;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTBS:NM_004388:exon1:c.C30T:p.R10R;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2911592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.2421;1000g2015aug_all=0.272165;esp6500siv2_all=0.1903;ExAC_ALL=0.4132;ExAC_AFR=0.3890;ExAC_AMR=0.3672;ExAC_EAS=0.3387;ExAC_FIN=0.3873;ExAC_NFE=0.4101;ExAC_OTH=0.4434;ExAC_SAS=0.4459;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:684,0,488 1 85040070 rs115347546 C A 655.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.496;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=-0.728;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTBS;Func=exonic;Gene=NM_004388;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CTBS:NM_004388:exon1:c.G29T:p.R10L;Gencode=Name\x3eENST00000370630.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115347546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.1196;1000g2015aug_all=0.152556;esp6500siv2_all=0.1254;ExAC_ALL=0.3414;ExAC_AFR=0.2349;ExAC_AMR=0.1992;ExAC_EAS=0.0587;ExAC_FIN=0.3841;ExAC_NFE=0.3759;ExAC_OTH=0.3702;ExAC_SAS=0.3749;SIFT_score=0.599;SIFT_pred=T;Polyphen2_HDIV_score=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.106;Polyphen2_HVAR_pred=B;LRT_score=0.312;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=1.23;FATHMM_pred=T;phyloP100way_vertebrate=-0.708;phyloP20way_mammalian=0.743;SiPhy_29way_logOdds=12.816;gerp++gt2=4.46;CADD=2.220;CADD_Phred=17.64;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:684,0,488 1 85096592 rs11164027 C T 1429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.729;DP=92;ExcessHet=3.0103;FS=0.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.992;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01555;Func=ncRNA_intronic;Gene=NR_027379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370624.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1299\x3bName\x3e"182048:MLT1E1A(LTR)";avsnp150=rs11164027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.16;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.245;1000g2015aug_all=0.150359;esp6500siv2_all=.;ExAC_ALL=0.1954;ExAC_AFR=0.1950;ExAC_AMR=0.3194;ExAC_EAS=0.0673;ExAC_FIN=0.2410;ExAC_NFE=0.1902;ExAC_OTH=0.2;ExAC_SAS=0.4259;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,47:92:99:1458,0,1321 1 85097247 rs12031476 T G 912.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.264;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01555;Func=ncRNA_intronic;Gene=NR_027379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370624.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1260\x3bName\x3e"182049:MER33(DNA)";avsnp150=rs12031476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.16;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.245;1000g2015aug_all=0.151358;esp6500siv2_all=.;ExAC_ALL=0.2073;ExAC_AFR=0.1405;ExAC_AMR=0.2465;ExAC_EAS=0.0602;ExAC_FIN=0.2237;ExAC_NFE=0.1792;ExAC_OTH=0.1667;ExAC_SAS=0.2421;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,35:70:99:941,0,917 1 85113203 rs2994949 T C 784.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=exonic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SSX2IP:NM_001166294:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166295:exon13:c.A1677G:p.A559A,SSX2IP:NM_001166293:exon14:c.A1758G:p.A586A,SSX2IP:NM_001166417:exon15:c.A1758G:p.A586A,SSX2IP:NM_014021:exon15:c.A1758G:p.A586A;Gencode=Name\x3eENST00000605755.5,ENST00000342203.7,ENST00000437941.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2994949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.8588;1000g2015aug_all=0.76258;esp6500siv2_all=0.7775;ExAC_ALL=0.8136;ExAC_AFR=0.6351;ExAC_AMR=0.8785;ExAC_EAS=0.8147;ExAC_FIN=0.8423;ExAC_NFE=0.8411;ExAC_OTH=0.8161;ExAC_SAS=0.7570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:813,78,0 1 85113229 rs1057746 A G 213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.513;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.593;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=exonic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SSX2IP:NM_001166294:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166295:exon13:c.T1651C:p.C551R,SSX2IP:NM_001166293:exon14:c.T1732C:p.C578R,SSX2IP:NM_001166417:exon15:c.T1732C:p.C578R,SSX2IP:NM_014021:exon15:c.T1732C:p.C578R;Gencode=Name\x3eENST00000437941.6,ENST00000342203.7,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.5346;1000g2015aug_all=0.51258;esp6500siv2_all=0.5168;ExAC_ALL=0.5838;ExAC_AFR=0.2822;ExAC_AMR=0.5695;ExAC_EAS=0.7115;ExAC_FIN=0.6393;ExAC_NFE=0.6289;ExAC_OTH=0.5881;ExAC_SAS=0.5125;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=0.81;FATHMM_pred=T;phyloP100way_vertebrate=1.054;phyloP20way_mammalian=-0.235;SiPhy_29way_logOdds=3.541;gerp++gt2=2.16;CADD=1.115;CADD_Phred=11.29;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:242,0,417 1 85115852 rs2298076 G T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437941.6,ENST00000342203.7,ENST00000603677.1,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"182089:L2a(LINE)";avsnp150=rs2298076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.8588;1000g2015aug_all=0.760383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 85121255 rs4537578 A G 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.573;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=-0.083;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342203.7,ENST00000603677.1,ENST00000437941.6,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4537578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.5346;1000g2015aug_all=0.514577;esp6500siv2_all=.;ExAC_ALL=0.5337;ExAC_AFR=0.3196;ExAC_AMR=0.5606;ExAC_EAS=0.7095;ExAC_FIN=0.5;ExAC_NFE=0.6106;ExAC_OTH=0.5896;ExAC_SAS=0.5050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:175,0,334 1 85123713 rs2911561 C G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000605755.5,ENST00000603677.1,ENST00000342203.7,ENST00000437941.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1839\x3bName\x3e"182101:AluSz6(SINE)";avsnp150=rs2911561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.6326;1000g2015aug_all=0.678115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:71,0,33 1 85123819 rs2994440 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000603677.1,ENST00000342203.7,ENST00000437941.6,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1839\x3bName\x3e"182101:AluSz6(SINE)";avsnp150=rs2994440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9236;1000g2015aug_all=0.873203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 85128262 rs2911563 A G 596.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.487;DP=36;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.414;SOR=1.385;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000605755.5,ENST00000342203.7,ENST00000603677.1,ENST00000437941.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2911563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.6326;1000g2015aug_all=0.678115;esp6500siv2_all=0.7286;ExAC_ALL=0.7289;ExAC_AFR=0.6372;ExAC_AMR=0.6468;ExAC_EAS=0.7197;ExAC_FIN=0.7844;ExAC_NFE=0.7767;ExAC_OTH=0.7529;ExAC_SAS=0.6315;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:625,0,457 1 85128280 rs2994437 T C 1026.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342203.7,ENST00000603677.1,ENST00000437941.6,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2994437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9078;1000g2015aug_all=0.852236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1055,84,0 1 85128305 rs11164033 G C 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.387;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.19;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437941.6,ENST00000603677.1,ENST00000342203.7,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.5346;1000g2015aug_all=0.514776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:315,0,365 1 85131982 rs3096445 T G 225.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000605755.5,ENST00000437941.6,ENST00000342203.7,ENST00000603677.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3096445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9078;1000g2015aug_all=0.852236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:254,24,0 1 85137984 rs12022113 A G 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437941.6,ENST00000342203.7,ENST00000603677.1,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e581\x3bName\x3e"182123:Charlie8(DNA)";avsnp150=rs12022113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.8055;1000g2015aug_all=0.699081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 85145519 rs6576720 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSX2IP;Func=intronic;Gene=NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000603677.1,ENST00000342203.7,ENST00000437941.6,ENST00000605755.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e943\x3bName\x3e"182137:MIR(SINE)";avsnp150=rs6576720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9524;1000g2015aug_all=0.928115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85246018 rs11161452 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014021,NM_012152;GeneDetail=dist\x3e89778\x3bdist\x3e33068;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.6391;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.5;1000g2015aug_all=0.5627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85279902 rs41289035 T C 1037.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.533;DP=74;ExcessHet=3.0103;FS=0.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.828;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLPAR3;Func=intronic;Gene=NM_012152;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000440886.1,ENST00000370611.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41289035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00599042;esp6500siv2_all=0.0085;ExAC_ALL=0.0074;ExAC_AFR=0.0020;ExAC_AMR=0.0089;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0103;ExAC_OTH=0.0092;ExAC_SAS=0.0043;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,36:74:99:1066,0,1250 1 85280161 rs2025689 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLPAR3;Func=intronic;Gene=NM_012152;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370611.3,ENST00000440886.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e282\x3bName\x3e"182407:MIRb(SINE)";avsnp150=rs2025689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.2017;1000g2015aug_all=0.192891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 85382422 rs11161486 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012152,NM_153259;GeneDetail=dist\x3e23526\x3bdist\x3e8844;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.1974;1000g2015aug_all=0.266773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85383816 rs11161487 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012152,NM_153259;GeneDetail=dist\x3e24920\x3bdist\x3e7450;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.0976;1000g2015aug_amr=0.1974;1000g2015aug_all=0.266773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85397286 rs34793286 G C 1347.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5,ENST00000370608.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34793286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2608;1000g2015aug_all=0.248802;esp6500siv2_all=0.2259;ExAC_ALL=0.2922;ExAC_AFR=0.0719;ExAC_AMR=0.2865;ExAC_EAS=0.3922;ExAC_FIN=0.3603;ExAC_NFE=0.3067;ExAC_OTH=0.2935;ExAC_SAS=0.2885;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1376,129,0 1 85417779 rs679961 G A 283.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.79;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5,ENST00000370608.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2306\x3bName\x3e"182666:AluSz6(SINE)";avsnp150=rs679961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.669;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.6398;1000g2015aug_all=0.626198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:312,24,0 1 85418307 rs677476 C G 2165.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.23;SOR=2.872;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3289\x3bName\x3e"182667:L1MC4(LINE)";avsnp150=rs677476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.5504;1000g2015aug_all=0.570487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2194,177,0 1 85422061 rs632545 C T 1995.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs632545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.5418;1000g2015aug_all=0.553115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2024,192,0 1 85422378 rs550766 T C 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs550766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.325;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.2968;1000g2015aug_all=0.370607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 85424182 rs673998 A G 414.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs673998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.325;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.2968;1000g2015aug_all=0.369808;esp6500siv2_all=0.3730;ExAC_ALL=0.3394;ExAC_AFR=0.4276;ExAC_AMR=0.2960;ExAC_EAS=0.3849;ExAC_FIN=0.2458;ExAC_NFE=0.3417;ExAC_OTH=0.3278;ExAC_SAS=0.3198;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:443,42,0 1 85424479 rs674182 A G 166.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs674182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.325;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.2968;1000g2015aug_all=0.369808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:195,15,0 1 85462194 rs4907119 G C 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=intronic;Gene=NM_001330647,NM_153259;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4907119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.5029;1000g2015aug_all=0.451877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 85462557 rs149504313 C T 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.904;DP=56;ExcessHet=3.0103;FS=1.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.634;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=UTR5;Gene=NM_001330647,NM_153259;GeneDetail=NM_001330647:c.-31173G>A\x3bNM_153259:c.-2G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5,ENST00000370608.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs149504313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0018;ExAC_ALL=0.0009;ExAC_AFR=0.0003;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0015;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,21:56:99:539,0,930 1 85462582 rs11161503 C G 1395.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.41;SOR=2.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=UTR5;Gene=NM_001330647,NM_153259;GeneDetail=NM_001330647:c.-31198G>C\x3bNM_153259:c.-27G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370608.7,ENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.5029;1000g2015aug_all=0.452077;esp6500siv2_all=0.4201;ExAC_ALL=0.4714;ExAC_AFR=0.2979;ExAC_AMR=0.5563;ExAC_EAS=0.6197;ExAC_FIN=0.3864;ExAC_NFE=0.4731;ExAC_OTH=0.4658;ExAC_SAS=0.4712;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1424,117,0 1 85462652 rs11161504 G T 585.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=UTR5;Gene=NM_001330647,NM_153259;GeneDetail=NM_001330647:c.-31268C>A\x3bNM_153259:c.-97C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.5029;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:614,45,0 1 85462665 rs11161505 T G 536.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.43;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=UTR5;Gene=NM_001330647,NM_153259;GeneDetail=NM_001330647:c.-31281A>C\x3bNM_153259:c.-110A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.5029;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:39:565,39,0 1 85462750 rs920340 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN2;Func=UTR5;Gene=NM_001330647,NM_153259;GeneDetail=NM_001330647:c.-31366A>G\x3bNM_153259:c.-195A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284027.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs920340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.9726;1000g2015aug_all=0.91873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 85488030 rs2028304 G A 2134.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN3;Func=exonic;Gene=NM_001253693,NM_018298;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MCOLN3:NM_001253693:exon9:c.C981T:p.L327L,MCOLN3:NM_018298:exon10:c.C1149T:p.L383L;Gencode=Name\x3eENST00000370589.6,ENST00000341115.8,ENST00000370596.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2028304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.84;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.7522;1000g2015aug_all=0.796126;esp6500siv2_all=0.8505;ExAC_ALL=0.8234;ExAC_AFR=0.8339;ExAC_AMR=0.7250;ExAC_EAS=0.7368;ExAC_FIN=0.8109;ExAC_NFE=0.8549;ExAC_OTH=0.8238;ExAC_SAS=0.8086;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2163,210,0 1 85488154 rs2039814 G C 406.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN3;Func=intronic;Gene=NM_001253693,NM_018298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341115.8,ENST00000370596.5,ENST00000370589.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3494\x3bName\x3e"182795:L2a(LINE)";avsnp150=rs2039814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:435,33,0 1 85507074 rs6576744 G T 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMCOLN3;Func=intronic;Gene=NM_001253693,NM_018298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341115.8,ENST00000370596.5,ENST00000370589.6,ENST00000370587.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6576744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9902;1000g2015aug_amr=1;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 85514282 rs34407588 T C 55.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001253693,NM_018298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34407588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.1346;1000g2015aug_amr=0.1873;1000g2015aug_all=0.211861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:83,9,0 1 85537502 rs4907131 T A 176.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4907131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.6392;1000g2015aug_amr=0.8876;1000g2015aug_all=0.79373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:205,15,0 1 85537522 rs4907132 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5,ENST00000326813.12,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4907132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.8847;1000g2015aug_all=0.774161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 85538655 rs28417745 A G 144.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.14;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326813.12,ENST00000370596.5,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2601\x3bName\x3e"182903:AluY(SINE)";avsnp150=rs28417745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:173,18,0 1 85538879 rs11161517 G A 661.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.1499;1000g2015aug_all=0.173323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:690,57,0 1 85538947 rs4907133 A G 334.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.91;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5,ENST00000326813.12,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4907133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.696;1000g2015aug_all=0.688299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:363,27,0 1 85551423 rs12130198 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326813.12,ENST00000370596.5,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e845\x3bName\x3e"182938:LTR16A2(LTR)";avsnp150=rs12130198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.1643;1000g2015aug_all=0.204273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85558938 rs6660050 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660050;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.408;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.3199;1000g2015aug_all=0.320687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85559452 rs709762 A G 1147.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5,ENST00000326813.12,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e425\x3bName\x3e"182953:MIRb(SINE)";avsnp150=rs709762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.6282;1000g2015aug_all=0.571286;esp6500siv2_all=.;ExAC_ALL=0.6093;ExAC_AFR=0.6964;ExAC_AMR=0.7088;ExAC_EAS=0.5189;ExAC_FIN=0.6295;ExAC_NFE=0.6026;ExAC_OTH=0.6168;ExAC_SAS=0.5695;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1176,96,0 1 85560313 rs709765 T C 273.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326813.12,ENST00000370596.5,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.6268;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:302,24,0 1 85561546 rs709766 T C 776.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5,ENST00000326813.12,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.6702;1000g2015aug_amr=0.6268;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:805,66,0 1 85561872 rs817596 C T 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326813.12,ENST00000370596.5,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9928;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 85561954 rs709767 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000326813.12,ENST00000370596.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.502;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.4424;1000g2015aug_all=0.47484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 85564138 rs817489 A G 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.671;1000g2015aug_amr=0.6268;1000g2015aug_all=0.570487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 85564544 rs709770 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370596.5,ENST00000326813.12,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9928;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 85574021 rs709759 G A 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.501;1000g2015aug_afr=0.6581;1000g2015aug_amr=0.4424;1000g2015aug_all=0.47524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 85592126 rs817474 G T 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000370596.5,ENST00000326813.12;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.9179;1000g2015aug_all=0.876797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 85595645 rs1020770 C T 1887.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326813.12,ENST00000370596.5,ENST00000294664.10;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1020770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.6354;1000g2015aug_all=0.598842;esp6500siv2_all=0.6120;ExAC_ALL=0.6840;ExAC_AFR=0.4205;ExAC_AMR=0.6738;ExAC_EAS=0.5500;ExAC_FIN=0.7011;ExAC_NFE=0.7057;ExAC_OTH=0.7097;ExAC_SAS=0.8317;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:1916,189,0 1 85595975 rs1020771 T C 103.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR63;Func=intronic;Gene=NM_001288563,NM_145172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294664.10,ENST00000326813.12,ENST00000370596.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1020771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.2935;1000g2015aug_amr=0.6239;1000g2015aug_all=0.574681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:131,12,0 1 85624549 rs709786 C T 1209.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=exonic;Gene=NM_032184;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYDE2:NM_032184:exon7:c.G3469A:p.V1157I;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs709786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9989;ExAC_ALL=0.9995;ExAC_AFR=0.9961;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.1;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=2.143;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=6.744;gerp++gt2=2.56;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1238,120,0 1 85624864 rs817412 G A 1407.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=exonic;Gene=NM_032184;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYDE2:NM_032184:exon7:c.C3154T:p.L1052L;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.9942;1000g2015aug_all=0.98103;esp6500siv2_all=0.9854;ExAC_ALL=0.9956;ExAC_AFR=0.9487;ExAC_AMR=0.9982;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9978;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1436,135,0 1 85647713 rs817444 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=intronic;Gene=NM_032184;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.9942;1000g2015aug_all=0.979433;esp6500siv2_all=.;ExAC_ALL=0.9940;ExAC_AFR=0.9468;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 85648620 rs817443 C T 1090.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=exonic;Gene=NM_032184;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYDE2:NM_032184:exon3:c.G1705A:p.V569I;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs817443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.9942;1000g2015aug_all=0.979433;esp6500siv2_all=0.9842;ExAC_ALL=0.9953;ExAC_AFR=0.9455;ExAC_AMR=0.9978;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9978;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.919;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.34;FATHMM_pred=T;phyloP100way_vertebrate=-0.574;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=7.034;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1119,99,0 1 85648905 rs11161539 T C 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.586;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=intronic;Gene=NM_032184;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.5202;1000g2015aug_all=0.514177;esp6500siv2_all=0.5506;ExAC_ALL=0.6193;ExAC_AFR=0.3029;ExAC_AMR=0.5609;ExAC_EAS=0.5407;ExAC_FIN=0.7205;ExAC_NFE=0.6582;ExAC_OTH=0.6518;ExAC_SAS=0.7284;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:100,0,225 1 85657703 rs200906086 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=intronic;Gene=NM_032184;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200906086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.17;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.2983;1000g2015aug_all=0.222644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 85666156 rs12121540 T G 1145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.816;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.332;SOR=0.794;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYDE2;Func=exonic;Gene=NM_032184;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYDE2:NM_032184:exon1:c.A524C:p.Q175P;Gencode=Name\x3eENST00000341460.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.379;1000g2015aug_all=0.304513;esp6500siv2_all=0.2142;ExAC_ALL=0.2861;ExAC_AFR=0.1689;ExAC_AMR=0.4525;ExAC_EAS=0.4789;ExAC_FIN=0.2116;ExAC_NFE=0.2445;ExAC_OTH=0.2921;ExAC_SAS=0.3352;SIFT_score=0.71;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.261;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=3.32;FATHMM_pred=T;phyloP100way_vertebrate=-0.427;phyloP20way_mammalian=-1.669;SiPhy_29way_logOdds=1.917;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,41:90:99:1174,0,1542 1 85724328 rs4949926 C T 551.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.267;DP=40;ExcessHet=3.0103;FS=7.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.176;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf52;Func=exonic;Gene=NM_198077;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf52:NM_198077:exon2:c.G354A:p.P118P;Gencode=Name\x3eENST00000344356.5,ENST00000471115.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4949926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.3156;1000g2015aug_all=0.22484;esp6500siv2_all=0.1803;ExAC_ALL=0.2271;ExAC_AFR=0.1320;ExAC_AMR=0.3383;ExAC_EAS=0.3127;ExAC_FIN=0.1950;ExAC_NFE=0.2110;ExAC_OTH=0.2268;ExAC_SAS=0.2421;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:580,0,549 1 85741734 rs12068788 A T 327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.101;DP=28;ExcessHet=3.0103;FS=5.946;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.323;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCL10;Func=intronic;Gene=NM_001320715,NM_003921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370580.5,ENST00000620248.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12068788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0893;1000g2015aug_all=0.127196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,13:28:99:356,0,372 1 85741921 rs2735594 G C 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.465;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.407;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCL10;Func=intronic;Gene=NM_001320715,NM_003921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370580.5,ENST00000620248.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2735594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.6873;1000g2015aug_all=0.770567;esp6500siv2_all=0.8003;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:325,0,476 1 85741968 rs12562182 G C 137.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.329;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-0.075;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCL10;Func=intronic;Gene=NM_001320715,NM_003921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620248.1,ENST00000370580.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12562182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.085;1000g2015aug_all=0.0834665;esp6500siv2_all=0.0610;ExAC_ALL=0.0928;ExAC_AFR=0.0182;ExAC_AMR=0.1168;ExAC_EAS=0.1309;ExAC_FIN=0.0726;ExAC_NFE=0.0815;ExAC_OTH=0.0828;ExAC_SAS=0.1563;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:166,0,454 1 85742157 rs1060843 G C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCL10,LOC646626;Func=ncRNA_exonic;Gene=NR_045484;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370580.5;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1060843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0893;1000g2015aug_all=0.125399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 85936774 rs1403953 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDAH1;Func=intronic;Gene=NM_001134445;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426972.7,ENST00000535924.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1003\x3bName\x3e"183678:LTR33(LTR)";avsnp150=rs1403953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.507;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.464;1000g2015aug_all=0.332867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 85938147 rs551786 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDAH1;Func=intronic;Gene=NM_001134445;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535924.6,ENST00000426972.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4267\x3bName\x3e"183680:MER39B(LTR)";avsnp150=rs551786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.9784;1000g2015aug_all=0.926717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 86046561 rs2297140 C A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYR61;Func=UTR5;Gene=NM_001554;GeneDetail=NM_001554:c.-107C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451137.6,ENST00000617517.2;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.682;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.5375;1000g2015aug_all=0.585663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:107,0,73 1 86046924 rs2297141 G A 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.296;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYR61;Func=intronic;Gene=NM_001554;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617517.2,ENST00000451137.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.5757;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.4784;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:359,0,393 1 86072178 rs11161641 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001554,NM_001170670;GeneDetail=dist\x3e22530\x3bdist\x3e42928;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.498;1000g2015aug_afr=0.27;1000g2015aug_amr=0.5216;1000g2015aug_all=0.44988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 86072182 rs10873709 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001554,NM_001170670;GeneDetail=dist\x3e22534\x3bdist\x3e42924;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10873709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5828;1000g2015aug_eur=0.499;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.5202;1000g2015aug_all=0.45028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 86120024 rs821400 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNHIT6;Func=intronic;Gene=NM_001170670,NM_017953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431532.6,ENST00000370574.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs821400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9464;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.9236;1000g2015aug_all=0.884784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 86146672 rs3767162 G A 657.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNHIT6;Func=intronic;Gene=NM_001170670,NM_017953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431532.6,ENST00000370574.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.3674;1000g2015aug_all=0.383586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:686,57,0 1 86167957 rs1764298 C T 766.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNHIT6;Func=intronic;Gene=NM_001170670,NM_017953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431532.6,ENST00000370574.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1764298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.84;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.7133;1000g2015aug_all=0.706669;esp6500siv2_all=0.7009;ExAC_ALL=0.7986;ExAC_AFR=0.4368;ExAC_AMR=0.6796;ExAC_EAS=0.9365;ExAC_FIN=0.8802;ExAC_NFE=0.8370;ExAC_OTH=0.8326;ExAC_SAS=0.8369;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:795,78,0 1 86168123 rs1764299 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNHIT6;Func=intronic;Gene=NM_001170670,NM_017953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370574.3,ENST00000431532.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e537\x3bName\x3e"184128:MIR(SINE)";avsnp150=rs1764299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.3689;1000g2015aug_all=0.384585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 86173100 rs1775986 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNHIT6;Func=intronic;Gene=NM_001170670,NM_017953;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431532.6,ENST00000370574.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1775986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9464;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.9236;1000g2015aug_all=0.884585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 86202016 rs1481200 C T 1866.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1481200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.9251;1000g2015aug_all=0.885383;esp6500siv2_all=.;ExAC_ALL=0.9609;ExAC_AFR=0.7938;ExAC_AMR=0.9574;ExAC_EAS=0.9296;ExAC_FIN=.;ExAC_NFE=0.9784;ExAC_OTH=0.9417;ExAC_SAS=0.9596;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1895,168,0 1 86210546 rs7547023 G A 512.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.45;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.817;1000g2015aug_all=0.846845;esp6500siv2_all=0.8974;ExAC_ALL=0.9167;ExAC_AFR=0.7372;ExAC_AMR=0.7531;ExAC_EAS=0.9396;ExAC_FIN=0.9744;ExAC_NFE=0.9669;ExAC_OTH=0.9330;ExAC_SAS=0.8980;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:541,42,0 1 86211325 rs10747324 G A 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10747324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.817;1000g2015aug_all=0.847244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 86211516 rs6673975 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673975;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.817;1000g2015aug_all=0.846845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86241107 rs491357 T C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.28;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20730\x3bName\x3e"184271:L1PA8(LINE)";avsnp150=rs491357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.5855;1000g2015aug_amr=0.8977;1000g2015aug_all=0.844649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 86246849 rs313722 A C 1858.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=1.903;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs313722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.839;1000g2015aug_afr=0.562;1000g2015aug_amr=0.7233;1000g2015aug_all=0.723043;esp6500siv2_all=0.7639;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1887,177,0 1 86249063 rs313724 C T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.39;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs313724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.9179;1000g2015aug_all=0.897364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 86249911 rs313725 A G 2087.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=1.234;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs313725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.9642;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.9006;1000g2015aug_all=0.85643;esp6500siv2_all=0.8797;ExAC_ALL=0.9317;ExAC_AFR=0.6734;ExAC_AMR=0.9012;ExAC_EAS=0.9508;ExAC_FIN=0.9577;ExAC_NFE=0.9648;ExAC_OTH=0.9389;ExAC_SAS=0.9518;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2116,186,0 1 86251836 rs313710 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs313710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.112;1000g2015aug_amr=0.3401;1000g2015aug_all=0.374601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86289328 rs1842580 A G 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.146;DP=33;ExcessHet=3.0103;FS=1.5;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.243;SOR=1.194;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1842580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0105831;esp6500siv2_all=0.0326;ExAC_ALL=0.0296;ExAC_AFR=0.0095;ExAC_AMR=0.0109;ExAC_EAS=0.0002;ExAC_FIN=0.0691;ExAC_NFE=0.0411;ExAC_OTH=0.0267;ExAC_SAS=0.0077;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:432,0,475 1 86333680 rs313774 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2148\x3bName\x3e"184429:AluSx(SINE)";avsnp150=rs313774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.3948;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86334070 rs313775 T A 806.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs313775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.3963;1000g2015aug_all=0.467652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:835,78,0 1 86334316 rs17411495 T C 983.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17411495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.3948;1000g2015aug_all=0.465855;esp6500siv2_all=0.3969;ExAC_ALL=0.4591;ExAC_AFR=0.3288;ExAC_AMR=0.4311;ExAC_EAS=0.5816;ExAC_FIN=0.4855;ExAC_NFE=0.4357;ExAC_OTH=0.4844;ExAC_SAS=0.5736;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1012,90,0 1 86334675 rs11161693 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.379;1000g2015aug_all=0.410743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86334750 rs12029238 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12029238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.3963;1000g2015aug_all=0.467252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86340193 rs11161696 G T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.816;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.6628;1000g2015aug_all=0.750399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 86340794 rs1564516 T C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2063\x3bName\x3e"184432:MER1B(DNA)";avsnp150=rs1564516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.6542;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 86340892 rs7536101 A G 393.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.3833;1000g2015aug_all=0.435304;esp6500siv2_all=0.3782;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:422,33,0 1 86361384 rs4912449 C T 412.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e335\x3bName\x3e"184480:L1MA7(LINE)";avsnp150=rs4912449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.907;1000g2015aug_amr=0.915;1000g2015aug_all=0.873802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:441,39,0 1 86361802 rs7541806 C G 894.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.5832;1000g2015aug_amr=0.7795;1000g2015aug_all=0.695288;esp6500siv2_all=0.6668;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:923,81,0 1 86375654 rs1502657 C G 1505.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=exonic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL24A1:NM_001349955:exon26:c.G549C:p.P183P,COL24A1:NM_152890:exon26:c.G2649C:p.P883P;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1502657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.7795;1000g2015aug_all=0.691893;esp6500siv2_all=0.6744;ExAC_ALL=0.7044;ExAC_AFR=0.6028;ExAC_AMR=0.8058;ExAC_EAS=0.7997;ExAC_FIN=0.6884;ExAC_NFE=0.7039;ExAC_OTH=0.71;ExAC_SAS=0.6525;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1534,155,0 1 86377028 rs10493777 C T 776.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4928;1000g2015aug_all=0.34345;esp6500siv2_all=0.2804;ExAC_ALL=0.3661;ExAC_AFR=0.1575;ExAC_AMR=0.5563;ExAC_EAS=0.5348;ExAC_FIN=0.4492;ExAC_NFE=0.3474;ExAC_OTH=0.3450;ExAC_SAS=0.3134;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:805,75,0 1 86554821 rs12405791 G A 853.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25\x3bName\x3e"184783:A-rich(Low_complexity)";avsnp150=rs12405791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.4914;1000g2015aug_all=0.433307;esp6500siv2_all=0.3022;ExAC_ALL=0.5377;ExAC_AFR=0.3920;ExAC_AMR=0.5746;ExAC_EAS=0.2708;ExAC_FIN=0.6730;ExAC_NFE=0.5727;ExAC_OTH=0.5396;ExAC_SAS=0.5371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:882,66,0 1 86580800 rs6666638 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.362;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.5187;1000g2015aug_all=0.435903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86590915 rs2174767 G A 971.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=exonic;Gene=NM_152890;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL24A1:NM_152890:exon3:c.C1104T:p.S368S;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2174767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.987;1000g2015aug_all=0.964457;esp6500siv2_all=0.9741;ExAC_ALL=0.9892;ExAC_AFR=0.9084;ExAC_AMR=0.9953;ExAC_EAS=0.9693;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9978;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1000,84,0 1 86591837 rs11161747 G A 2917.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=exonic;Gene=NM_152890;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=COL24A1:NM_152890:exon3:c.C182T:p.A61V;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11161747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.7176;1000g2015aug_all=0.645168;esp6500siv2_all=0.6997;ExAC_ALL=0.7053;ExAC_AFR=0.5715;ExAC_AMR=0.7325;ExAC_EAS=0.6218;ExAC_FIN=0.6578;ExAC_NFE=0.7430;ExAC_OTH=0.7220;ExAC_SAS=0.6746;SIFT_score=0.44;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.285;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.83;MutationAssessor_pred=N;FATHMM_score=-2.68;FATHMM_pred=D;phyloP100way_vertebrate=-0.025;phyloP20way_mammalian=0.201;SiPhy_29way_logOdds=0.961;gerp++gt2=.;CADD=1.160;CADD_Phred=11.53;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2946,258,0 1 86602671 rs12728141 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.3937;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.4054;1000g2015aug_amr=0.549;1000g2015aug_all=0.466853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 86621992 rs1999747 C A 1650.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL24A1;Func=intronic;Gene=NM_001349955,NM_152890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370571.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.6686;1000g2015aug_all=0.550319;esp6500siv2_all=0.6425;ExAC_ALL=0.6450;ExAC_AFR=0.4940;ExAC_AMR=0.7034;ExAC_EAS=0.5831;ExAC_FIN=0.6412;ExAC_NFE=0.7046;ExAC_OTH=0.6607;ExAC_SAS=0.4779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1679,150,0 1 86706236 rs4656140 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152890,NM_001184765;GeneDetail=dist\x3e84082\x3bdist\x3e106271;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e973\x3bName\x3e"185028:AluSx(SINE)";avsnp150=rs4656140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.817;1000g2015aug_all=0.834065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 86807418 rs10873771 G A 262.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152890,NM_001184765;GeneDetail=dist\x3e185264\x3bdist\x3e5089;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25050\x3bName\x3e"185176:HERVH48-int(LTR)";avsnp150=rs10873771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.2305;1000g2015aug_all=0.267372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:291,21,0 1 86807551 rs76942579 C G 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.65;DP=20;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.567;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152890,NM_001184765;GeneDetail=dist\x3e185397\x3bdist\x3e4956;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25050\x3bName\x3e"185176:HERVH48-int(LTR)";avsnp150=rs76942579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:285,0,346 1 86807618 rs272489 C T 884.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152890,NM_001184765;GeneDetail=dist\x3e185464\x3bdist\x3e4889;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25050\x3bName\x3e"185176:HERVH48-int(LTR)";avsnp150=rs272489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.818;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.6801;1000g2015aug_all=0.795128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:913,81,0 1 86809063 rs272490 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152890,NM_001184765;GeneDetail=dist\x3e186909\x3bdist\x3e3444;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25050\x3bName\x3e"185176:HERVH48-int(LTR)";avsnp150=rs272490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.5865;1000g2015aug_all=0.69988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 86818572 rs272496 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=exonic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ODF2L:NM_001184766:exon15:c.A1617G:p.E539E,ODF2L:NM_001184765:exon16:c.A1704G:p.E568E,ODF2L:NM_001007022:exon17:c.A1863G:p.E621E,ODF2L:NM_020729:exon17:c.A1815G:p.E605E;Gencode=Name\x3eENST00000317336.11,ENST00000359242.7,ENST00000294678.6,ENST00000370566.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs272496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.6585;1000g2015aug_all=0.741214;esp6500siv2_all=0.6865;ExAC_ALL=0.6915;ExAC_AFR=0.7572;ExAC_AMR=0.6304;ExAC_EAS=0.8324;ExAC_FIN=0.7032;ExAC_NFE=0.6544;ExAC_OTH=0.7164;ExAC_SAS=0.7608;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 86820267 rs1182098 C T 1078.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=exonic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ODF2L:NM_001184766:exon14:c.G1467A:p.E489E,ODF2L:NM_001184765:exon15:c.G1554A:p.E518E,ODF2L:NM_001007022:exon16:c.G1713A:p.E571E,ODF2L:NM_020729:exon16:c.G1665A:p.E555E;Gencode=Name\x3eENST00000294678.6,ENST00000370566.7,ENST00000317336.11,ENST00000359242.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1182098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.67;1000g2015aug_all=0.754593;esp6500siv2_all=0.6978;ExAC_ALL=0.7020;ExAC_AFR=0.7764;ExAC_AMR=0.6369;ExAC_EAS=0.8313;ExAC_FIN=0.7254;ExAC_NFE=0.6625;ExAC_OTH=0.7252;ExAC_SAS=0.7815;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1107,108,0 1 86821974 rs1182099 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=intronic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359242.7,ENST00000317336.11,ENST00000370566.7,ENST00000294678.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1182099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.6585;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86838158 rs421105 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=exonic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ODF2L:NM_001007022:exon9:c.G876A:p.V292V,ODF2L:NM_001184765:exon9:c.G876A:p.V292V,ODF2L:NM_001184766:exon9:c.G876A:p.V292V,ODF2L:NM_020729:exon9:c.G876A:p.V292V;Gencode=Name\x3eENST00000294678.6,ENST00000370566.7,ENST00000317336.11,ENST00000359242.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs421105;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.67;1000g2015aug_all=0.754593;esp6500siv2_all=0.6969;ExAC_ALL=0.7161;ExAC_AFR=0.7767;ExAC_AMR=0.6507;ExAC_EAS=0.8350;ExAC_FIN=0.7340;ExAC_NFE=0.6778;ExAC_OTH=0.7275;ExAC_SAS=0.7798;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 86851420 rs1407719 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=intronic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294678.6,ENST00000370566.7,ENST00000317336.11,ENST00000359242.7,ENST00000478286.2;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1407719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.2637;1000g2015aug_all=0.314696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86852621 rs2390096 A G 632.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eODF2L;Func=exonic;Gene=NM_001007022,NM_001184765,NM_001184766,NM_020729;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ODF2L:NM_001007022:exon2:c.T90C:p.C30C,ODF2L:NM_001184765:exon2:c.T90C:p.C30C,ODF2L:NM_001184766:exon2:c.T90C:p.C30C,ODF2L:NM_020729:exon2:c.T90C:p.C30C;Gencode=Name\x3eENST00000359242.7,ENST00000478286.2,ENST00000317336.11,ENST00000370566.7,ENST00000486215.1,ENST00000294678.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2390096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.2637;1000g2015aug_all=0.314696;esp6500siv2_all=0.3156;ExAC_ALL=0.3304;ExAC_AFR=0.2699;ExAC_AMR=0.2941;ExAC_EAS=0.4036;ExAC_FIN=0.3266;ExAC_NFE=0.3356;ExAC_OTH=0.3260;ExAC_SAS=0.3361;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:661,63,0 1 86876231 rs10873780 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001184765,NM_006536;GeneDetail=dist\x3e14206\x3bdist\x3e13335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15089\x3bName\x3e"185293:HERVL18-int(LTR)";avsnp150=rs10873780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.295;1000g2015aug_amr=0.5288;1000g2015aug_all=0.502396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 86890931 rs1158505 T A 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1158505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.668;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.611;1000g2015aug_all=0.617612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 86891005 rs1158506 C A 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1158506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.475;1000g2015aug_amr=0.5677;1000g2015aug_all=0.555911;esp6500siv2_all=0.5827;ExAC_ALL=0.6018;ExAC_AFR=0.5055;ExAC_AMR=0.6348;ExAC_EAS=0.5719;ExAC_FIN=0.5779;ExAC_NFE=0.6229;ExAC_OTH=0.5824;ExAC_SAS=0.5795;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 86891179 rs2210641 T C 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2210641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.298;1000g2015aug_amr=0.2435;1000g2015aug_all=0.317891;esp6500siv2_all=0.2932;ExAC_ALL=0.3059;ExAC_AFR=0.3229;ExAC_AMR=0.2736;ExAC_EAS=0.4051;ExAC_FIN=0.3027;ExAC_NFE=0.2875;ExAC_OTH=0.3108;ExAC_SAS=0.3430;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 86894371 rs1334147 G T 973.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.672;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.611;1000g2015aug_all=0.618411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1002,78,0 1 86894496 rs2151709 T C 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2151709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.673;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.611;1000g2015aug_all=0.61881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 86896354 rs4292929 G A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4292929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.8112;1000g2015aug_all=0.823083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 86896541 rs3737672 G A 2299.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.2738;1000g2015aug_all=0.366214;esp6500siv2_all=0.3310;ExAC_ALL=0.3552;ExAC_AFR=0.3057;ExAC_AMR=0.3176;ExAC_EAS=0.5012;ExAC_FIN=0.3476;ExAC_NFE=0.3389;ExAC_OTH=0.3557;ExAC_SAS=0.4052;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2328,234,0 1 86897973 rs1334150 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7799;1000g2015aug_amr=0.8069;1000g2015aug_all=0.811901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 86898315 rs3737159 T C 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=intronic;Gene=NM_006536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e188\x3bName\x3e"185325:MIR3(SINE)";avsnp150=rs3737159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.2046;1000g2015aug_all=0.271166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 86913265 rs2275001 C T 2324.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=1.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=exonic;Gene=NM_006536;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCA2:NM_006536:exon11:c.C1788T:p.R596R;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3889;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.2032;1000g2015aug_all=0.254593;esp6500siv2_all=0.2255;ExAC_ALL=0.2790;ExAC_AFR=0.1247;ExAC_AMR=0.2558;ExAC_EAS=0.3797;ExAC_FIN=0.3006;ExAC_NFE=0.2769;ExAC_OTH=0.2874;ExAC_SAS=0.3393;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2353,213,0 1 86920904 rs2390057 A G 3109.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=0.736;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA2;Func=exonic;Gene=NM_006536;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCA2:NM_006536:exon14:c.A2526G:p.Q842Q;Gencode=Name\x3eENST00000370565.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2390057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.335;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.2435;1000g2015aug_all=0.328874;esp6500siv2_all=0.3046;ExAC_ALL=0.3432;ExAC_AFR=0.2466;ExAC_AMR=0.2984;ExAC_EAS=0.4193;ExAC_FIN=0.3506;ExAC_NFE=0.3371;ExAC_OTH=0.3524;ExAC_SAS=0.4165;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3138,282,0 1 86934966 rs1321697 C A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e474\x3bName\x3e"185396:MIRb(SINE)";avsnp150=rs1321697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.2032;1000g2015aug_all=0.265176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 86938908 rs2753378 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.6268;1000g2015aug_all=0.705671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86939130 rs2145412 C T 1528.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=exonic;Gene=NM_001285;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCA1:NM_001285:exon2:c.C193T:p.L65F;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2145412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.9308;1000g2015aug_all=0.882188;esp6500siv2_all=0.8844;ExAC_ALL=0.9404;ExAC_AFR=0.7262;ExAC_AMR=0.9710;ExAC_EAS=0.9873;ExAC_FIN=0.8798;ExAC_NFE=0.9647;ExAC_OTH=0.9350;ExAC_SAS=0.9551;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-3.57;MutationAssessor_pred=N;FATHMM_score=3.16;FATHMM_pred=T;phyloP100way_vertebrate=2.518;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=6.799;gerp++gt2=5.56;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1557,144,0 1 86939390 rs2180762 G A 2502.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2180762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.955;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.9582;1000g2015aug_all=0.915136;esp6500siv2_all=0.9143;ExAC_ALL=0.9507;ExAC_AFR=0.8130;ExAC_AMR=0.9791;ExAC_EAS=0.9874;ExAC_FIN=0.8801;ExAC_NFE=0.9678;ExAC_OTH=0.9397;ExAC_SAS=0.9585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2531,225,0 1 86940715 rs5744329 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5744329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.1916;1000g2015aug_all=0.254792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 86947975 rs1321694 A T 849.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=exonic;Gene=NM_001285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCA1:NM_001285:exon5:c.A645T:p.V215V;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1321694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.505;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.2939;1000g2015aug_all=0.367612;esp6500siv2_all=0.3199;ExAC_ALL=0.3709;ExAC_AFR=0.2626;ExAC_AMR=0.3511;ExAC_EAS=0.4740;ExAC_FIN=0.4151;ExAC_NFE=0.3566;ExAC_OTH=0.4053;ExAC_SAS=0.4373;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:878,81,0 1 86952324 rs2734705 A G 1818.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=exonic;Gene=NM_001285;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCA1:NM_001285:exon7:c.A1070G:p.N357S;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2734705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8916;1000g2015aug_eur=0.835;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9078;1000g2015aug_all=0.886981;esp6500siv2_all=0.8691;ExAC_ALL=0.8629;ExAC_AFR=0.9339;ExAC_AMR=0.9176;ExAC_EAS=0.8719;ExAC_FIN=0.8638;ExAC_NFE=0.8334;ExAC_OTH=0.8601;ExAC_SAS=0.8939;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.945;MutationAssessor_pred=N;FATHMM_score=2.78;FATHMM_pred=T;phyloP100way_vertebrate=0.380;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=2.310;gerp++gt2=4.58;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1847,177,0 1 86952601 rs2075630 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.661;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.7695;1000g2015aug_all=0.627196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 86954453 rs2075631 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.6182;1000g2015aug_all=0.415535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86954472 rs2753337 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.18;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.909;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.8545;1000g2015aug_all=0.844249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 86954591 rs2075632 T C 456.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.113;DP=41;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.583;SOR=0.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.353;1000g2015aug_all=0.231829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,17:41:99:485,0,742 1 86956772 rs2753341 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.402;1000g2015aug_all=0.326877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 86956785 rs2753342 C G 228.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.94;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.9063;1000g2015aug_all=0.876198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:257,18,0 1 86959014 rs2753346 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.902;1000g2015aug_all=0.854034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 86959173 rs2791494 T C 2673.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=1.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=exonic;Gene=NM_001285;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCA1:NM_001285:exon10:c.T1571C:p.M524T;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.8761;1000g2015aug_all=0.849641;esp6500siv2_all=0.8017;ExAC_ALL=0.8419;ExAC_AFR=0.7769;ExAC_AMR=0.9019;ExAC_EAS=0.9213;ExAC_FIN=0.8529;ExAC_NFE=0.8170;ExAC_OTH=0.8458;ExAC_SAS=0.8950;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.938;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=1.67;FATHMM_pred=T;phyloP100way_vertebrate=-1.569;phyloP20way_mammalian=-0.473;SiPhy_29way_logOdds=5.316;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2702,270,0 1 86959424 rs1321690 C A 262.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1321690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.6844;1000g2015aug_all=0.736621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:291,21,0 1 86959796 rs1321689 C T 988.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=2.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1321689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.647;1000g2015aug_all=0.721246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1017,87,0 1 86964075 rs2753356 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=intronic;Gene=NM_001285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234701.7,ENST00000394711.1;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2753356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.677;1000g2015aug_amr=0.6787;1000g2015aug_all=0.728634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 86965419 rs1882753 T C 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.839;DP=28;ExcessHet=3.0103;FS=6.513;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.023;SOR=0.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA1;Func=exonic;Gene=NM_001285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCA1:NM_001285:exon14:c.T2436C:p.T812T;Gencode=Name\x3eENST00000394711.1,ENST00000234701.7;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1882753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.2291;1000g2015aug_all=0.352636;esp6500siv2_all=0.2623;ExAC_ALL=0.2985;ExAC_AFR=0.2720;ExAC_AMR=0.2683;ExAC_EAS=0.5561;ExAC_FIN=0.2383;ExAC_NFE=0.2558;ExAC_OTH=0.3029;ExAC_SAS=0.3975;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:448,0,349 1 87018768 rs6676936 A G 2242.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA4;Func=intronic;Gene=NM_012128;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370563.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=Score\x3e0.898837\x3bName\x3echr14:105009940;Repeat=.;avsnp150=rs6676936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2271,203,0 1 87036746 rs772599 C A 2603.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=1.58;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCA4;Func=intronic;Gene=NM_012128;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370563.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs772599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.8759;1000g2015aug_amr=0.8617;1000g2015aug_all=0.864617;esp6500siv2_all=0.7789;ExAC_ALL=0.8011;ExAC_AFR=0.8532;ExAC_AMR=0.8816;ExAC_EAS=0.9406;ExAC_FIN=0.7426;ExAC_NFE=0.7497;ExAC_OTH=0.7785;ExAC_SAS=0.8756;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2632,234,0 1 87250677 rs480625 G A 499.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.901;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.24;MQRankSum=-1.75;QD=14.7;ReadPosRankSum=1.55;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016009,NM_203341;GeneDetail=dist\x3e36810\x3bdist\x3e77451;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs480625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.165;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.232;1000g2015aug_all=0.270966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:528,0,437 1 87251079 rs566334 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.273;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-0.674;QD=12.05;ReadPosRankSum=-0.978;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016009,NM_203341;GeneDetail=dist\x3e37212\x3bdist\x3e77049;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs566334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.2882;1000g2015aug_all=0.346446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:221,0,209 1 87368917 rs573680 A G 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.391;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEP15;Func=intronic;Gene=NM_004261,NM_203341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370554.5,ENST00000611507.4,ENST00000331835.9,ENST00000401030.4,ENST00000616787.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.1614;1000g2015aug_all=0.231829;esp6500siv2_all=0.2775;ExAC_ALL=0.2045;ExAC_AFR=0.4555;ExAC_AMR=0.1315;ExAC_EAS=0.0260;ExAC_FIN=0.1719;ExAC_NFE=0.2137;ExAC_OTH=0.1942;ExAC_SAS=0.1721;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:222,0,139 1 87369176 rs571015 C T 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.207;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEP15;Func=intronic;Gene=NM_004261,NM_203341;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331835.9,ENST00000616787.4,ENST00000401030.4,ENST00000370554.5,ENST00000611507.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs571015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.503;1000g2015aug_amr=0.1614;1000g2015aug_all=0.231629;esp6500siv2_all=0.2688;ExAC_ALL=0.2200;ExAC_AFR=0.4490;ExAC_AMR=0.1720;ExAC_EAS=0.0336;ExAC_FIN=0.1711;ExAC_NFE=0.2255;ExAC_OTH=0.1690;ExAC_SAS=0.1814;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:177,0,211 1 87379986 rs754001 T C 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.599;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.388;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEP15;Func=UTR5;Gene=NM_004261,NM_203341;GeneDetail=NM_004261:c.-192A>G\x3bNM_203341:c.-192A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611507.4,ENST00000331835.9,ENST00000616787.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs754001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0970447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:177,0,680 1 87379996 rs101028 G T 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.992;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.424;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEP15;Func=UTR5;Gene=NM_004261,NM_203341;GeneDetail=NM_004261:c.-202C>A\x3bNM_203341:c.-202C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331835.9,ENST00000616787.4,ENST00000611507.4;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs101028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.1599;1000g2015aug_all=0.219449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:177,0,680 1 87380929 rs114120960 C T 698.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.832;DP=51;ExcessHet=3.0103;FS=9.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.038;SOR=0.128;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114120960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.045;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0253594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:727,0,830 1 87458695 rs10873810 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.198;DP=41;ExcessHet=3.0103;FS=1.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.117;SOR=0.509;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370551.8,ENST00000370548.3,ENST00000370550.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e991\x3bName\x3e"186364:MER39(LTR)";avsnp150=rs10873810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.8314;1000g2015aug_all=0.761581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:458,0,633 1 87482160 rs2390214 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370548.3,ENST00000370551.8;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"186395:(CTTT)n(Simple_repeat)";avsnp150=rs2390214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.831;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.853;1000g2015aug_all=0.793131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 87487410 rs114747121 T A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370551.8,ENST00000370548.3,ENST00000370550.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1740\x3bName\x3e"186403:AluJr(SINE)";avsnp150=rs114747121;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.045;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0269569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:69:69,0,72 1 87511177 rs4656138 C T 876.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.742;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.348;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.41;1000g2015aug_amr=0.8213;1000g2015aug_all=0.73742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,36:63:99:905,0,734 1 87511398 rs7534656 C T 593.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370548.3,ENST00000370551.8,ENST00000370550.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.8473;1000g2015aug_all=0.791534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:622,48,0 1 87511720 rs1573202 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370548.3,ENST00000370551.8,ENST00000370550.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.817;1000g2015aug_all=0.719449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 87538200 rs10782592 G A 903.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.388;1000g2015aug_amr=0.8372;1000g2015aug_all=0.748403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:932,81,0 1 87538426 rs2390264 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0;SOR=2.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2390264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.817;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:68:68,0,71 1 87538962 rs1539610 G A 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370551.8,ENST00000370548.3,ENST00000370550.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e228\x3bName\x3e"186478:L2b(LINE)";avsnp150=rs1539610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.832;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.8847;1000g2015aug_all=0.851837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 87549858 rs2798675 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370548.3,ENST00000370551.8;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2798675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.9467;1000g2015aug_all=0.937101;esp6500siv2_all=0.9123;ExAC_ALL=0.9399;ExAC_AFR=0.8727;ExAC_AMR=0.9709;ExAC_EAS=0.9958;ExAC_FIN=0.9494;ExAC_NFE=0.9341;ExAC_OTH=0.9294;ExAC_SAS=0.9514;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 87563388 rs113186720 A T 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.945;DP=18;ExcessHet=3.0103;FS=2.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.38;ReadPosRankSum=-2.766;SOR=0.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_001134492,NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113186720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.046;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0273562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:413,0,196 1 87563668 rs1199677 G A 1242.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=UTR3;Gene=NM_001134492;GeneDetail=NM_001134492:c.*46G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370551.8,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1199677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9755;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.9289;1000g2015aug_amr=0.9697;1000g2015aug_all=0.966853;esp6500siv2_all=0.9559;ExAC_ALL=0.9660;ExAC_AFR=0.9316;ExAC_AMR=0.9873;ExAC_EAS=0.9961;ExAC_FIN=0.9603;ExAC_NFE=0.9647;ExAC_OTH=0.9590;ExAC_SAS=0.9649;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1271,108,0 1 87564757 rs1199679 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=intronic;Gene=NM_012262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2253\x3bName\x3e"186516:AluSx1(SINE)";avsnp150=rs1199679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.7843;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.8112;1000g2015aug_all=0.718051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 87570398 rs1621247 G A 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.402;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=-0.375;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHS2ST1;Func=UTR3;Gene=NM_012262;GeneDetail=NM_012262:c.*19G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370550.9,ENST00000370548.3;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1621247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.7843;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.8084;1000g2015aug_all=0.707867;esp6500siv2_all=0.6552;ExAC_ALL=0.7839;ExAC_AFR=0.4102;ExAC_AMR=0.8669;ExAC_EAS=0.9732;ExAC_FIN=0.7909;ExAC_NFE=0.7881;ExAC_OTH=0.7812;ExAC_SAS=0.8201;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,11:50:99:207,0,1155 1 87598117 rs6686259 T G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01140;Func=ncRNA_intronic;Gene=NR_026985,NR_026986,NR_026987,NR_026988,NR_026989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467438.1,ENST00000370548.3,ENST00000461990.1,ENST00000590653.5,ENST00000484933.6,ENST00000469312.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6679;1000g2015aug_amr=0.7853;1000g2015aug_all=0.740815;esp6500siv2_all=.;ExAC_ALL=0.7051;ExAC_AFR=0.6457;ExAC_AMR=0.7260;ExAC_EAS=0.7792;ExAC_FIN=0.7181;ExAC_NFE=0.7011;ExAC_OTH=0.7558;ExAC_SAS=0.7195;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 87599697 rs6576865 G A 3185.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01140;Func=ncRNA_exonic;Gene=NR_026985,NR_026986,NR_026987,NR_026988;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467438.1,ENST00000370548.3,ENST00000461990.1,ENST00000590653.5,ENST00000484933.6,ENST00000469312.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6576865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.729;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.8588;1000g2015aug_all=0.841054;esp6500siv2_all=.;ExAC_ALL=0.7674;ExAC_AFR=0.9072;ExAC_AMR=0.7717;ExAC_EAS=0.7879;ExAC_FIN=.;ExAC_NFE=0.8044;ExAC_OTH=0.7881;ExAC_SAS=0.7494;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3214,288,0 1 87633761 rs10782593 C T 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.48;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01140;Func=ncRNA_intronic;Gene=NR_026989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370548.3,ENST00000469312.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9479;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.9265;1000g2015aug_all=0.935104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 87633929 rs17129860 A G 456.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.455;DP=46;ExcessHet=3.0103;FS=1.159;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.569;SOR=0.472;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01140;Func=ncRNA_exonic;Gene=NR_026989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370548.3,ENST00000469312.6;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17129860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.3601;1000g2015aug_amr=0.1571;1000g2015aug_all=0.150958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,19:46:99:485,0,710 1 87709437 rs28379534 G C 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.207;DP=33;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.468;SOR=0.328;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927844;Func=intronic;Gene=NM_001290053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28379534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.331;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.4107;1000g2015aug_all=0.239018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,21:33:99:602,0,367 1 87716226 rs11161953 T A 1883.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.682;DP=136;ExcessHet=3.0103;FS=0.634;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.772;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927844;Func=exonic;Gene=NM_001290053;GeneDetail=.;ExonicFunc=stopgain;AAChange=LOC101927844:NM_001290053:exon4:c.T66A:p.Y22X;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e217\x3bName\x3e"186758:L2b(LINE)";avsnp150=rs11161953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1354;1000g2015aug_all=0.170727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,72:134:99:1912,0,1529 1 87716433 rs72725847 C T 421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.171;DP=31;ExcessHet=3.0103;FS=2.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.675;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927844;Func=exonic;Gene=NM_001290053;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LOC101927844:NM_001290053:exon4:c.C273T:p.F91F;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72725847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.332;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.4236;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:450,0,574 1 87716515 rs111758073 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927844;Func=UTR3;Gene=NM_001290053;GeneDetail=NM_001290053:c.*7T>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2292\x3bName\x3e"186760:AluSx(SINE)";avsnp150=rs111758073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.332;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.4236;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 87814101 rs12032178 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMO4;Func=UTR3;Gene=NM_006769;GeneDetail=NM_006769:c.*3622G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370544.9;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12032178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.407;1000g2015aug_amr=0.1455;1000g2015aug_all=0.184904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 87909373 rs6686094 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e72035\x3bdist\x3e1093823;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=Score\x3e0.943364\x3bName\x3echr1:146500256;Repeat=Score\x3e2070\x3bName\x3e"187079:MSTA(LTR)";avsnp150=rs6686094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.5086;1000g2015aug_all=0.526558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 88088468 rs10873859 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e251130\x3bdist\x3e914728;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2494\x3bName\x3e"187377:AluSp(SINE)";avsnp150=rs10873859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.329;1000g2015aug_afr=0.295;1000g2015aug_amr=0.5548;1000g2015aug_all=0.441693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 88088484 rs11162054 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e251146\x3bdist\x3e914712;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2494\x3bName\x3e"187377:AluSp(SINE)";avsnp150=rs11162054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.274;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.402;1000g2015aug_all=0.297724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 88088485 rs6688173 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e251147\x3bdist\x3e914711;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2494\x3bName\x3e"187377:AluSp(SINE)";avsnp150=rs6688173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.6571;1000g2015aug_all=0.661741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 88163774 rs12740358 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e326436\x3bdist\x3e839422;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"187514:AluSc(SINE)";avsnp150=rs12740358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.5259;1000g2015aug_all=0.358227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 88163778 rs12756310 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e326440\x3bdist\x3e839418;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"187514:AluSc(SINE)";avsnp150=rs12756310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.6239;1000g2015aug_all=0.59365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 88229627 rs4655986 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e392289\x3bdist\x3e773569;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4655986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.056;1000g2015aug_amr=0.3833;1000g2015aug_all=0.25;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 88512371 rs12117077 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e675033\x3bdist\x3e490825;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e970\x3bName\x3e"188127:MLT1A0(LTR)";avsnp150=rs12117077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0853;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.3658;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.2248;1000g2015aug_all=0.171326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 88702815 rs10801880 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038324,NR_110682;GeneDetail=dist\x3e865477\x3bdist\x3e300381;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.513;1000g2015aug_all=0.421126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 89043609 rs7513469 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKN2-AS1;Func=ncRNA_intronic;Gene=NR_110682;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458097.5;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.4524;1000g2015aug_all=0.304313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 89225976 rs430600 T C 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.887;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.208;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKN2;Func=exonic;Gene=NM_001320707,NM_001320709,NM_006256;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKN2:NM_001320707:exon3:c.T421C:p.L141L,PKN2:NM_001320709:exon3:c.T421C:p.L141L,PKN2:NM_006256:exon3:c.T421C:p.L141L;Gencode=Name\x3eENST00000370513.9,ENST00000370505.7,ENST00000316005.11,ENST00000370521.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs430600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.8292;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.5807;1000g2015aug_all=0.750599;esp6500siv2_all=0.7153;ExAC_ALL=0.6929;ExAC_AFR=0.8941;ExAC_AMR=0.6180;ExAC_EAS=0.6425;ExAC_FIN=0.7251;ExAC_NFE=0.6497;ExAC_OTH=0.7078;ExAC_SAS=0.8134;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:417,0,332 1 89236029 rs7541301 T A 515.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.114;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=0.712;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKN2;Func=intronic;Gene=NM_001320707,NM_001320708,NM_001320709,NM_006256;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370521.7,ENST00000370513.9,ENST00000370505.7,ENST00000316005.11;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.4856;1000g2015aug_all=0.510184;esp6500siv2_all=0.5117;ExAC_ALL=0.5666;ExAC_AFR=0.3862;ExAC_AMR=0.5115;ExAC_EAS=0.4661;ExAC_FIN=0.6303;ExAC_NFE=0.5780;ExAC_OTH=0.59;ExAC_SAS=0.6898;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:544,0,385 1 89271574 rs786906 T C 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.657;DP=46;ExcessHet=3.0103;FS=2.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.29;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKN2;Func=exonic;Gene=NM_001320707,NM_001320708,NM_001320709,NM_006256;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKN2:NM_001320707:exon11:c.T1533C:p.S511S,PKN2:NM_001320708:exon11:c.T1206C:p.S402S,PKN2:NM_001320709:exon12:c.T1629C:p.S543S,PKN2:NM_006256:exon12:c.T1677C:p.S559S;Gencode=Name\x3eENST00000370513.9,ENST00000316005.11,ENST00000370505.7,ENST00000370521.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs786906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.3563;1000g2015aug_amr=0.4856;1000g2015aug_all=0.511581;esp6500siv2_all=0.5139;ExAC_ALL=0.5640;ExAC_AFR=0.3832;ExAC_AMR=0.5147;ExAC_EAS=0.4609;ExAC_FIN=0.6298;ExAC_NFE=0.5735;ExAC_OTH=0.5911;ExAC_SAS=0.6928;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,27:46:99:717,0,539 1 89280965 rs786918 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKN2;Func=intronic;Gene=NM_001320707,NM_001320708,NM_001320709,NM_006256;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370513.9,ENST00000370521.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs786918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.727;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.3563;1000g2015aug_amr=0.4856;1000g2015aug_all=0.511981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 89322982 rs2794318 G A 3684.77 PASS AC=2;AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGTF2B;Func=exonic;Gene=NM_001514;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GTF2B:NM_001514:exon6:c.C724T:p.L242L;Gencode=Name\x3eENST00000370500.9;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.9957;1000g2015aug_all=0.986022;esp6500siv2_all=0.9825;ExAC_ALL=0.9954;ExAC_AFR=0.9492;ExAC_AMR=0.9985;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9978;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,117:117:99:3713,351,0 1 89426902 rs3738055 G A 480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.772;DP=38;ExcessHet=3.0103;FS=5.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.336;SOR=0.177;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2;Func=exonic;Gene=NM_001008661,NM_001008662,NM_001349447,NM_001349448,NM_001349449,NM_001349450;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S;Gencode=Name\x3eENST00000260508.8,ENST00000370485.6,ENST00000370491.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.5043;1000g2015aug_all=0.369409;esp6500siv2_all=0.4211;ExAC_ALL=0.4373;ExAC_AFR=0.2742;ExAC_AMR=0.4878;ExAC_EAS=0.4491;ExAC_FIN=0.4486;ExAC_NFE=0.4812;ExAC_OTH=0.4492;ExAC_SAS=0.3155;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,19:38:99:509,0,545 1 89427571 rs3753683 G C 279.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=-0.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2;Func=intronic;Gene=NM_001008661,NM_001008662,NM_001349447,NM_001349448,NM_001349449,NM_001349450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260508.8,ENST00000370491.7,ENST00000370485.6;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.5043;1000g2015aug_all=0.370008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:90:308,0,90 1 89430420 rs1536259 A G 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.121;DP=13;ExcessHet=3.0103;FS=11.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.832;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2;Func=intronic;Gene=NM_001008661,NM_001008662,NM_001349447,NM_001349448,NM_001349449,NM_001349450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370485.6,ENST00000370491.7,ENST00000260508.8;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.5043;1000g2015aug_all=0.369409;esp6500siv2_all=.;ExAC_ALL=0.5463;ExAC_AFR=0.4027;ExAC_AMR=0.6111;ExAC_EAS=0.5903;ExAC_FIN=0.5400;ExAC_NFE=0.5902;ExAC_OTH=0.5344;ExAC_SAS=0.4073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:241,0,177 1 89449278 rs201168911 C T 56.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.21;DP=17;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=57.42;MQRankSum=-2.424;QD=3.55;ReadPosRankSum=-0.364;SOR=1.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2,RBMXL1;Func=exonic;Gene=NM_001162536,NM_019610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RBMXL1:NM_019610:exon2:c.G232A:p.A78T,RBMXL1:NM_001162536:exon3:c.G232A:p.A78T;Gencode=Name\x3eENST00000321792.5,ENST00000399794.6,ENST00000260508.8,ENST00000370491.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.937531\x3bName\x3echr9:30688956;Repeat=.;avsnp150=rs201168911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2800;ExAC_AFR=0.3206;ExAC_AMR=0.3472;ExAC_EAS=0.2076;ExAC_FIN=0.2415;ExAC_NFE=0.2803;ExAC_OTH=0.2664;ExAC_SAS=0.2607;SIFT_score=0.2;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.4;MutationAssessor_pred=N;FATHMM_score=2.45;FATHMM_pred=T;phyloP100way_vertebrate=1.935;phyloP20way_mammalian=0.426;SiPhy_29way_logOdds=4.364;gerp++gt2=.;CADD=2.429;CADD_Phred=19.01;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,4:16:85:85,0,419 1 89449298 rs111779380 C G 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.257;DP=26;ExcessHet=3.0103;FS=4.084;MLEAC=1;MLEAF=0.5;MQ=57.37;MQRankSum=-1.979;QD=5.49;ReadPosRankSum=0.184;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBMXL1,CCBL2;Func=exonic;Gene=NM_001162536,NM_019610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RBMXL1:NM_019610:exon2:c.G212C:p.G71A,RBMXL1:NM_001162536:exon3:c.G212C:p.G71A;Gencode=Name\x3eENST00000321792.5,ENST00000260508.8,ENST00000399794.6,ENST00000370491.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.937531\x3bName\x3echr9:30688956;Repeat=.;avsnp150=rs111779380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3593;ExAC_AFR=0.3889;ExAC_AMR=0.4186;ExAC_EAS=0.2785;ExAC_FIN=0.3289;ExAC_NFE=0.3624;ExAC_OTH=0.3581;ExAC_SAS=0.3416;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.315;MutationAssessor_pred=M;FATHMM_score=-1.98;FATHMM_pred=D;phyloP100way_vertebrate=5.307;phyloP20way_mammalian=0.426;SiPhy_29way_logOdds=4.654;gerp++gt2=.;CADD=4.720;CADD_Phred=24.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,8:24:99:160,0,527 1 89449390 rs112636230 T C 559.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.183;DP=40;ExcessHet=3.0103;FS=1.257;MLEAC=1;MLEAF=0.5;MQ=57.2;MQRankSum=-2.007;QD=15.13;ReadPosRankSum=0.751;SOR=0.498;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2,RBMXL1;Func=exonic;Gene=NM_001162536,NM_019610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RBMXL1:NM_019610:exon2:c.A120G:p.I40M,RBMXL1:NM_001162536:exon3:c.A120G:p.I40M;Gencode=Name\x3eENST00000370491.7,ENST00000399794.6,ENST00000260508.8,ENST00000321792.5;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.937531\x3bName\x3echr9:30688956;Repeat=.;avsnp150=rs112636230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.3607;ExAC_AFR=0.4318;ExAC_AMR=0.4231;ExAC_EAS=0.2918;ExAC_FIN=0.3068;ExAC_NFE=0.3577;ExAC_OTH=0.3392;ExAC_SAS=0.3432;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.11;MutationAssessor_pred=L;FATHMM_score=-1.55;FATHMM_pred=D;phyloP100way_vertebrate=3.664;phyloP20way_mammalian=-1.238;SiPhy_29way_logOdds=4.201;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:588,0,893 1 89449399 rs77567101 T C 532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.364;DP=40;ExcessHet=3.0103;FS=1.293;MLEAC=1;MLEAF=0.5;MQ=57.86;MQRankSum=-2.171;QD=14.02;ReadPosRankSum=1.106;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBMXL1,CCBL2;Func=exonic;Gene=NM_001162536,NM_019610;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RBMXL1:NM_019610:exon2:c.A111G:p.V37V,RBMXL1:NM_001162536:exon3:c.A111G:p.V37V;Gencode=Name\x3eENST00000370491.7,ENST00000321792.5,ENST00000399794.6,ENST00000260508.8;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.937531\x3bName\x3echr9:30688956;Repeat=.;avsnp150=rs77567101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3224;ExAC_ALL=0.3620;ExAC_AFR=0.4315;ExAC_AMR=0.4236;ExAC_EAS=0.2919;ExAC_FIN=0.3094;ExAC_NFE=0.3596;ExAC_OTH=0.3396;ExAC_SAS=0.3434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:561,0,957 1 89449434 rs2893084 T C 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.611;DP=45;ExcessHet=3.0103;FS=3.389;MLEAC=1;MLEAF=0.5;MQ=58.12;MQRankSum=-2.56;QD=3.06;ReadPosRankSum=1.467;SOR=0.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCBL2,RBMXL1;Func=exonic;Gene=NM_001162536,NM_019610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RBMXL1:NM_019610:exon2:c.A76G:p.T26A,RBMXL1:NM_001162536:exon3:c.A76G:p.T26A;Gencode=Name\x3eENST00000260508.8,ENST00000399794.6,ENST00000321792.5,ENST00000370491.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.937531\x3bName\x3echr9:30688956;Repeat=.;avsnp150=rs2893084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2832;ExAC_AFR=0.3563;ExAC_AMR=0.3568;ExAC_EAS=0.2351;ExAC_FIN=0.2292;ExAC_NFE=0.2769;ExAC_OTH=0.2643;ExAC_SAS=0.2590;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=-0.285;MutationAssessor_pred=N;FATHMM_score=-1.95;FATHMM_pred=D;phyloP100way_vertebrate=1.527;phyloP20way_mammalian=-1.238;SiPhy_29way_logOdds=6.053;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,10:43:99:160,0,1108 1 89574026 rs1329119 G A 621.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP2;Func=intronic;Gene=NM_004120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370466.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1329119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.675;1000g2015aug_afr=0.8011;1000g2015aug_amr=0.719;1000g2015aug_all=0.738419;esp6500siv2_all=0.7433;ExAC_ALL=0.7228;ExAC_AFR=0.8087;ExAC_AMR=0.7642;ExAC_EAS=0.7899;ExAC_FIN=0.8071;ExAC_NFE=0.6915;ExAC_OTH=0.7161;ExAC_SAS=0.6945;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:650,54,0 1 89579941 rs2230338 T C 3181.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP2;Func=exonic;Gene=NM_004120;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP2:NM_004120:exon7:c.A907G:p.S303G;Gencode=Name\x3eENST00000370466.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.6801;1000g2015aug_all=0.626997;esp6500siv2_all=0.6142;ExAC_ALL=0.6702;ExAC_AFR=0.5073;ExAC_AMR=0.7212;ExAC_EAS=0.7763;ExAC_FIN=0.7921;ExAC_NFE=0.6632;ExAC_OTH=0.6685;ExAC_SAS=0.6607;SIFT_score=0.014;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.727;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.935;MutationAssessor_pred=M;FATHMM_score=0.51;FATHMM_pred=T;phyloP100way_vertebrate=0.017;phyloP20way_mammalian=0.083;SiPhy_29way_logOdds=4.082;gerp++gt2=.;CADD=2.621;CADD_Phred=20.3;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3210,299,0 1 89582474 rs2297024 A T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP2;Func=intronic;Gene=NM_004120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370466.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.675;1000g2015aug_afr=0.7375;1000g2015aug_amr=0.7118;1000g2015aug_all=0.721446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 89582690 rs1803632 G C 3825.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=1.928;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP2;Func=exonic;Gene=NM_004120;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP2:NM_004120:exon6:c.C853G:p.P285A;Gencode=Name\x3eENST00000370466.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1803632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.6801;1000g2015aug_all=0.626997;esp6500siv2_all=0.6143;ExAC_ALL=0.6702;ExAC_AFR=0.5071;ExAC_AMR=0.7216;ExAC_EAS=0.7780;ExAC_FIN=0.7923;ExAC_NFE=0.6630;ExAC_OTH=0.6674;ExAC_SAS=0.6607;SIFT_score=0.838;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=0.66;FATHMM_pred=T;phyloP100way_vertebrate=-0.864;phyloP20way_mammalian=-0.270;SiPhy_29way_logOdds=10.040;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3854,333,0 1 89583544 rs2209956 T C 329.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP2;Func=intronic;Gene=NM_004120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370466.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2209956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.6787;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:358,27,0 1 89607479 rs6666846 G T 1097.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.6787;1000g2015aug_all=0.628794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1126,78,0 1 89607486 rs6658235 T C 1048.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.63;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.675;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.719;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:72:1077,72,0 1 89613013 rs6428504 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6428504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.175;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.3646;1000g2015aug_all=0.251597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 89614879 rs622861 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs622861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.674;1000g2015aug_afr=0.798;1000g2015aug_amr=0.7205;1000g2015aug_all=0.739417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 89618716 rs619478 C T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1728\x3bName\x3e"190029:MER95(LTR)";avsnp150=rs619478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.7017;1000g2015aug_all=0.700879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 89630721 rs2893089 G T 227.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=intronic;Gene=NM_207398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2893089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.174;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.3646;1000g2015aug_all=0.250599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:256,21,0 1 89637578 rs676913 G A 3722.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP7;Func=exonic;Gene=NM_207398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP7:NM_207398:exon2:c.C41T:p.T14I;Gencode=Name\x3eENST00000294671.2;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs676913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.7776;1000g2015aug_amr=0.7046;1000g2015aug_all=0.714657;esp6500siv2_all=0.7064;ExAC_ALL=0.6970;ExAC_AFR=0.7922;ExAC_AMR=0.7351;ExAC_EAS=0.7788;ExAC_FIN=0.7945;ExAC_NFE=0.6639;ExAC_OTH=0.6806;ExAC_SAS=0.6634;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.101;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-3.66;MutationAssessor_pred=N;FATHMM_score=0.41;FATHMM_pred=T;phyloP100way_vertebrate=2.974;phyloP20way_mammalian=-0.258;SiPhy_29way_logOdds=6.781;gerp++gt2=2.68;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:3751,363,0 1 89652846 rs12129014 G A 1486.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP4;Func=intronic;Gene=NM_052941;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355754.6;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.1524;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.3703;1000g2015aug_all=0.252396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1515,137,0 1 89661228 rs650448 T G 3954.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP4;Func=intronic;Gene=NM_052941;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355754.6;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs650448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.664;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.6873;1000g2015aug_all=0.625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:3983,365,0 1 89664276 rs493470 T C 422.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.32;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP4;Func=intronic;Gene=NM_052941;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355754.6;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs493470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.7334;1000g2015aug_all=0.751797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:451,33,0 1 89708273 rs12067626 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052941,NM_052942;GeneDetail=dist\x3e43640\x3bdist\x3e16361;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2469\x3bName\x3e"190156:AluY(SINE)";avsnp150=rs12067626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.3689;1000g2015aug_all=0.422923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 89708338 rs12063900 T C 43.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052941,NM_052942;GeneDetail=dist\x3e43705\x3bdist\x3e16296;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10173\x3bName\x3e"190157:L1PA14(LINE)";avsnp150=rs12063900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.3689;1000g2015aug_all=0.422724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 1 89726592 rs535351 G A 898.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437128.1,ENST00000370459.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs535351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.5605;1000g2015aug_all=0.678714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:927,69,0 1 89730723 rs9628688 C T 758.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=2.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370459.7,ENST00000437128.1;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9628688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3234;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.3718;1000g2015aug_all=0.426118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:787,75,0 1 89731959 rs12729209 G A 772.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437128.1,ENST00000370459.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12729209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.3703;1000g2015aug_all=0.415335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:801,60,0 1 89732527 rs139254361 G C 319.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.846;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.6;ReadPosRankSum=0.695;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370459.7,ENST00000437128.1;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139254361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0159;1000g2015aug_all=0.00998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,11:13:45:348,0,45 1 89733273 rs6690597 T C 1402.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370459.7,ENST00000437128.1;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.3804;1000g2015aug_all=0.458067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1431,111,0 1 89734274 rs3795542 A C 513.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP5;Func=intronic;Gene=NM_001134486,NM_052942;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437128.1,ENST00000370459.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.323;1000g2015aug_amr=0.3818;1000g2015aug_all=0.425319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:542,39,0 1 89755671 rs623771 T A 950.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC729930;Func=ncRNA_exonic;Gene=NR_077244;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8192;1000g2015aug_amr=0.7406;1000g2015aug_all=0.638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:979,84,0 1 89833933 rs9428023 C T 906.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.993;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.9611;1000g2015aug_all=0.942891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:935,69,0 1 89847372 rs4658359 G T 4157.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=exonic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP6:NM_001320257:exon5:c.G601T:p.A201S,GBP6:NM_198460:exon7:c.G991T:p.A331S;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.8415;1000g2015aug_all=0.805911;esp6500siv2_all=0.7911;ExAC_ALL=0.7769;ExAC_AFR=0.8854;ExAC_AMR=0.8667;ExAC_EAS=0.7494;ExAC_FIN=0.8140;ExAC_NFE=0.7390;ExAC_OTH=0.7896;ExAC_SAS=0.7974;SIFT_score=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.835;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.612;Polyphen2_HVAR_pred=P;LRT_score=0.288;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.525;MutationAssessor_pred=M;FATHMM_score=4.39;FATHMM_pred=T;phyloP100way_vertebrate=-0.240;phyloP20way_mammalian=0.729;SiPhy_29way_logOdds=3.352;gerp++gt2=.;CADD=1.627;CADD_Phred=14.00;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4186,390,0 1 89847411 rs4658360 C T 3495.77 PASS AC=2;AF=1;AN=2;DP=123;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=exonic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP6:NM_001320257:exon5:c.C640T:p.L214F,GBP6:NM_198460:exon7:c.C1030T:p.L344F;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.8415;1000g2015aug_all=0.805911;esp6500siv2_all=0.7911;ExAC_ALL=0.7771;ExAC_AFR=0.8855;ExAC_AMR=0.8665;ExAC_EAS=0.7501;ExAC_FIN=0.8140;ExAC_NFE=0.7394;ExAC_OTH=0.7896;ExAC_SAS=0.7975;SIFT_score=0.272;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_pred=B;LRT_score=0.790;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.99;MutationAssessor_pred=L;FATHMM_score=4.31;FATHMM_pred=T;phyloP100way_vertebrate=-2.821;phyloP20way_mammalian=-2.855;SiPhy_29way_logOdds=20.088;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3524,355,0 1 89847444 rs4658146 A G 3141.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=exonic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP6:NM_001320257:exon5:c.A673G:p.M225V,GBP6:NM_198460:exon7:c.A1063G:p.M355V;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.91;1000g2015aug_amr=0.8429;1000g2015aug_all=0.80651;esp6500siv2_all=0.7911;ExAC_ALL=0.7771;ExAC_AFR=0.8855;ExAC_AMR=0.8665;ExAC_EAS=0.7497;ExAC_FIN=0.8137;ExAC_NFE=0.7394;ExAC_OTH=0.7914;ExAC_SAS=0.7970;SIFT_score=0.952;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.390;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.73;MutationAssessor_pred=N;FATHMM_score=4.67;FATHMM_pred=T;phyloP100way_vertebrate=-4.032;phyloP20way_mammalian=-3.538;SiPhy_29way_logOdds=3.178;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3170,294,0 1 89848557 rs10733091 A C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10733091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.91;1000g2015aug_amr=0.8415;1000g2015aug_all=0.80631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 89849201 rs928652 C G 2591.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=1.068;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs928652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9193;1000g2015aug_all=0.860623;esp6500siv2_all=0.8974;ExAC_ALL=0.8828;ExAC_AFR=0.9083;ExAC_AMR=0.9183;ExAC_EAS=0.7505;ExAC_FIN=0.9090;ExAC_NFE=0.8899;ExAC_OTH=0.9031;ExAC_SAS=0.8707;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2620,237,0 1 89849350 rs928653 G A 2796.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs928653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9193;1000g2015aug_all=0.860623;esp6500siv2_all=0.8974;ExAC_ALL=0.8827;ExAC_AFR=0.9081;ExAC_AMR=0.9184;ExAC_EAS=0.7505;ExAC_FIN=0.9091;ExAC_NFE=0.8898;ExAC_OTH=0.9029;ExAC_SAS=0.8702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2825,240,0 1 89849441 rs928654 T G 2248.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs928654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9193;1000g2015aug_all=0.860623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2277,195,0 1 89849574 rs928655 G A 1771.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=intronic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs928655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.472;1000g2015aug_amr=0.6455;1000g2015aug_all=0.548323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1800,162,0 1 89849742 rs959460 A T 1425.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP6;Func=exonic;Gene=NM_001320257,NM_198460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GBP6:NM_001320257:exon8:c.A1169T:p.D390V,GBP6:NM_198460:exon10:c.A1559T:p.D520V;Gencode=Name\x3eENST00000370456.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs959460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9193;1000g2015aug_all=0.860623;esp6500siv2_all=0.8974;ExAC_ALL=0.8828;ExAC_AFR=0.9083;ExAC_AMR=0.9180;ExAC_EAS=0.7505;ExAC_FIN=0.9090;ExAC_NFE=0.8900;ExAC_OTH=0.9031;ExAC_SAS=0.8706;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.011;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.680;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=0.52;FATHMM_pred=T;phyloP100way_vertebrate=4.031;phyloP20way_mammalian=0.825;SiPhy_29way_logOdds=7.581;gerp++gt2=3.74;CADD=1.518;CADD_Phred=13.41;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1454,135,0 1 89875656 rs4233426 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4233426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 89875791 rs4233427 T C 1764.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4233427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1793,141,0 1 89876132 rs4258205 T C 1552.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4258205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1581,138,0 1 89885558 rs10737704 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.04;QD=31.65;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=Score\x3e4360\x3bName\x3e"190382:L1M3(LINE)";avsnp150=rs10737704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.9251;1000g2015aug_all=0.878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 89885854 rs6673154 G A 895.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_exonic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs6673154;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:924,81,0 1 89886714 rs6428538 A G 3064.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=0.736;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_exonic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs6428538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3093,282,0 1 89886796 rs6428539 G A 2405.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.578;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs6428539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2434,225,0 1 89888371 rs6428540 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs6428540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 89888530 rs4261099 C T 1232.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.06;QD=33.32;SOR=2.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4261099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1261,111,0 1 89888552 rs4282800 T A 1446.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.01;QD=28.94;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4282800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.9236;1000g2015aug_all=0.862021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1475,150,0 1 89888585 rs4415545 C G 2746.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.86;QD=33.74;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4415545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2775,187,0 1 89888588 rs4506445 G T 2746.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.09;QD=31.8;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBP1P1;Func=ncRNA_intronic;Gene=NR_003133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.925615\x3bName\x3echr1:89043831;Repeat=.;avsnp150=rs4506445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9236;1000g2015aug_all=0.86262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2775,187,0 1 89927507 rs4484909 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003133,NM_001134476;GeneDetail=dist\x3e37014\x3bdist\x3e62890;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4484909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.9986;1000g2015aug_all=0.99381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 90074072 rs946386 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134476,NR_033981;GeneDetail=dist\x3e10652\x3bdist\x3e16336;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443562.1;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1781\x3bName\x3e"190673:MLT1A(LTR)";avsnp150=rs946386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.5756;1000g2015aug_amr=0.3473;1000g2015aug_all=0.329473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 90171835 rs6657969 C T 429.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC8C;Func=intronic;Gene=NM_032270;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370453.5,ENST00000370454.8;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9928;1000g2015aug_all=0.987819;esp6500siv2_all=.;ExAC_ALL=0.9989;ExAC_AFR=0.9495;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.9993;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:458,39,0 1 90178045 rs3112507 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC8C;Func=intronic;Gene=NM_032270;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370454.8,ENST00000370453.5;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3112507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9928;1000g2015aug_all=0.987819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 90178743 rs474536 A G 2873.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=1.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC8C;Func=exonic;Gene=NM_032270;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRC8C:NM_032270:exon3:c.A614G:p.D205G;Gencode=Name\x3eENST00000370454.8,ENST00000370453.5;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs474536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.9899;1000g2015aug_all=0.986022;esp6500siv2_all=0.9842;ExAC_ALL=0.9952;ExAC_AFR=0.9487;ExAC_AMR=0.9971;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9978;ExAC_SAS=0.9999;SIFT_score=0.536;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.245;MutationAssessor_pred=N;FATHMM_score=1.88;FATHMM_pred=T;phyloP100way_vertebrate=3.339;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=14.015;gerp++gt2=4.84;CADD=1.673;CADD_Phred=14.26;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2902,252,0 1 90322384 rs10754295 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC8D;Func=intronic;Gene=NM_001134479,NM_018103;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370453.5,ENST00000337338.9,ENST00000394593.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1327\x3bName\x3e"191114:L1MCa(LINE)";avsnp150=rs10754295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.637;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.67;1000g2015aug_all=0.664337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 90459744 rs2703984 A G 1259.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGEMIN8P4;Func=ncRNA_exonic;Gene=NR_002830;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.89991\x3bName\x3echr15:69803013;Repeat=.;avsnp150=rs2703984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.9274;1000g2015aug_amr=0.9841;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1288,123,0 1 90459900 rs74548088 A T 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.724;DP=24;ExcessHet=3.0103;FS=1.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.176;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGEMIN8P4;Func=ncRNA_exonic;Gene=NR_002830;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.89991\x3bName\x3echr15:69803013;Repeat=.;avsnp150=rs74548088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0407348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:277,0,330 1 90459982 rs7556257 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGEMIN8P4;Func=ncRNA_exonic;Gene=NR_002830;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e753\x3bName\x3e"191396:AluJr4(SINE)";avsnp150=rs7556257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.9741;1000g2015aug_all=0.923922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 90475947 rs12086543 A G 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.96;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF326;Func=intronic;Gene=NM_001320185,NM_181781,NM_182976;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340281.8,ENST00000370447.3;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12086543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.951;1000g2015aug_all=0.852037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 90659658 rs4604679 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_181781,NR_145742;GeneDetail=dist\x3e158570\x3bdist\x3e463650;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4604679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.6614;1000g2015aug_all=0.763379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 90674002 rs10754299 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_181781,NR_145742;GeneDetail=dist\x3e172914\x3bdist\x3e449306;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.264;1000g2015aug_amr=0.3674;1000g2015aug_all=0.382788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 90879608 rs1472887 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_181781,NR_145742;GeneDetail=dist\x3e378521\x3bdist\x3e243699;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1472887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.407;1000g2015aug_amr=0.6542;1000g2015aug_all=0.489417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 91176394 rs10922906 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145742,NM_020063;GeneDetail=dist\x3e52874\x3bdist\x3e1185;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10922906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.9928;1000g2015aug_all=0.985024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 91179903 rs758992316 C G 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.09;ReadPosRankSum=0.044;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBARHL2;Func=intronic;Gene=NM_020063;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370445.4;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs758992316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:486,0,193 1 91346513 rs1188903 G A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146610,NM_201269;GeneDetail=dist\x3e26057\x3bdist\x3e34344;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8227\x3bName\x3e"192876:L1M4(LINE)";avsnp150=rs1188903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.9467;1000g2015aug_all=0.897564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 91346522 rs1188902 A G 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146610,NM_201269;GeneDetail=dist\x3e26066\x3bdist\x3e34335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8227\x3bName\x3e"192876:L1M4(LINE)";avsnp150=rs1188902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.9467;1000g2015aug_all=0.897564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 91359217 rs1188913 A G 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.42;QD=32.64;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146610,NM_201269;GeneDetail=dist\x3e38761\x3bdist\x3e21640;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9881;1000g2015aug_afr=1;1000g2015aug_amr=0.9957;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 91447985 rs358691 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF644;Func=intronic;Gene=NM_016620,NM_032186,NM_201269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370440.5,ENST00000347275.9,ENST00000361321.5,ENST00000337393.9;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs358691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9233;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.938;1000g2015aug_all=0.954473;esp6500siv2_all=0.9252;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 91538569 rs164879 G A 41.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e50757\x3bdist\x3e187754;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.0793;1000g2015aug_all=0.165735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 1 91560804 rs59213487 G T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.26;MQRankSum=-0.319;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e72992\x3bdist\x3e165519;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2577\x3bName\x3e"193285:AluSp(SINE)";avsnp150=rs59213487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1677;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0567;1000g2015aug_afr=0.115;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0856629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 91562724 rs164985 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e74912\x3bdist\x3e163599;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2454\x3bName\x3e"193291:AluSp(SINE)";avsnp150=rs164985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.6844;1000g2015aug_all=0.782348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 91562867 rs75955295 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e75055\x3bdist\x3e163456;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4627\x3bName\x3e"193292:L1ME1(LINE)";avsnp150=rs75955295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0567;1000g2015aug_afr=0.115;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0858626;esp6500siv2_all=0.0729;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 91582345 rs165290 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e94533\x3bdist\x3e143978;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e315\x3bName\x3e"193339:MIRb(SINE)";avsnp150=rs165290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.3804;1000g2015aug_all=0.311502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 91632461 rs683263 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e144649\x3bdist\x3e93862;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2173\x3bName\x3e"193458:AluSx(SINE)";avsnp150=rs683263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.495;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.298;1000g2015aug_amr=0.7003;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 91718744 rs583048 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_201269,NM_001017975;GeneDetail=dist\x3e230932\x3bdist\x3e7579;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13309\x3bName\x3e"193611:L1PREC2(LINE)";avsnp150=rs583048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 91728053 rs585898 G A 2019.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HFM1:NM_001017975:exon37:c.C4071T:p.A1357A;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs585898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9990;ExAC_ALL=0.9997;ExAC_AFR=0.9968;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2048,192,0 1 91728202 rs555432 T C 751.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs555432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:780,66,0 1 91739208 rs281964 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs281964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 91739414 rs281963 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs281963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9990;ExAC_ALL=0.9997;ExAC_AFR=0.9965;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 91740105 rs176019 T G 890.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.821;DP=30;ExcessHet=3.0103;FS=5.441;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.81;ReadPosRankSum=1.301;SOR=1.966;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs176019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,27:28:73:919,73,0 1 91781304 rs281991 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs281991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 91781644 rs11589490 C G 228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.14;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.047;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.1571;1000g2015aug_all=0.125;esp6500siv2_all=0.2137;ExAC_ALL=0.2034;ExAC_AFR=0.1367;ExAC_AMR=0.1454;ExAC_EAS=0.0019;ExAC_FIN=0.2038;ExAC_NFE=0.2684;ExAC_OTH=0.1902;ExAC_SAS=0.1301;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:257,0,181 1 91782031 rs11584478 T C 304.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.126;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HFM1:NM_001017975:exon26:c.A2815G:p.I939V;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.1571;1000g2015aug_all=0.125;esp6500siv2_all=0.2167;ExAC_ALL=0.1998;ExAC_AFR=0.1340;ExAC_AMR=0.1433;ExAC_EAS=0.0017;ExAC_FIN=0.2041;ExAC_NFE=0.2624;ExAC_OTH=0.1887;ExAC_SAS=0.1297;SIFT_score=0.812;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.933;MutationTaster_pred=P;MutationAssessor_score=-0.845;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;phyloP100way_vertebrate=2.628;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=6.864;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:333,0,373 1 91784887 rs10493845 G A 421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.679;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.447;SOR=0.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HFM1:NM_001017975:exon24:c.C2643T:p.T881T;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.181;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.2481;1000g2015aug_amr=0.2781;1000g2015aug_all=0.236422;esp6500siv2_all=0.3117;ExAC_ALL=0.2951;ExAC_AFR=0.2521;ExAC_AMR=0.3082;ExAC_EAS=0.1577;ExAC_FIN=0.3019;ExAC_NFE=0.3402;ExAC_OTH=0.2759;ExAC_SAS=0.2006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:450,0,393 1 91793877 rs281972 T C 761.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs281972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:790,69,0 1 91794091 rs7541566 G C 718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.089;DP=50;ExcessHet=3.0103;FS=2.62;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.058;SOR=0.343;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.958904\x3bName\x3echr11:61795338;Repeat=.;avsnp150=rs7541566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.389;1000g2015aug_all=0.338259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:747,0,820 1 91794248 rs281973 G A 681.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.676;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.259;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.958904\x3bName\x3echr11:61795338;Repeat=.;avsnp150=rs281973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.4755;1000g2015aug_all=0.439896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,28:65:99:710,0,1078 1 91794494 rs3893101 G A 1163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.763;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.72;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=Score\x3e0.958904\x3bName\x3echr11:61795338;Repeat=.;avsnp150=rs3893101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5387;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.1959;1000g2015aug_amr=0.3905;1000g2015aug_all=0.332867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,42:83:99:1192,0,1293 1 91804249 rs61798922 G A 399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.444;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.926;SOR=0.42;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7041\x3bName\x3e"193743:L1PA14(LINE)";avsnp150=rs61798922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0129;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,14:19:99:428,0,152 1 91813184 rs281936 C T 178.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.54;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs281936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:207,21,0 1 91841301 rs282036 T C 601.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs282036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9991;ExAC_ALL=0.9997;ExAC_AFR=0.9968;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:56:630,56,0 1 91846374 rs282033 C A 1096.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.42;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e261\x3bName\x3e"193797:L2a(LINE)";avsnp150=rs282033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1125,120,0 1 91851253 rs282026 T C 939.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HFM1:NM_001017975:exon5:c.A633G:p.Q211Q;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs282026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9990;ExAC_ALL=0.9997;ExAC_AFR=0.9968;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:968,90,0 1 91859795 rs282009 T C 1479.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HFM1:NM_001017975:exon4:c.A349G:p.I117V;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs282009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=0.9991;ExAC_ALL=0.9997;ExAC_AFR=0.9969;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.24;MutationAssessor_pred=N;FATHMM_score=0.49;FATHMM_pred=T;phyloP100way_vertebrate=-0.084;phyloP20way_mammalian=0.039;SiPhy_29way_logOdds=6.966;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1508,117,0 1 91859801 rs11165778 A G 592.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.927;DP=40;ExcessHet=3.0103;FS=2.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.948;SOR=0.372;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=exonic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HFM1:NM_001017975:exon4:c.T343C:p.S115P;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11165778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.1585;1000g2015aug_all=0.136781;esp6500siv2_all=0.2303;ExAC_ALL=0.2034;ExAC_AFR=0.1703;ExAC_AMR=0.1452;ExAC_EAS=0.0017;ExAC_FIN=0.2047;ExAC_NFE=0.2632;ExAC_OTH=0.1905;ExAC_SAS=0.1288;SIFT_score=0.29;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=0.26;FATHMM_pred=T;phyloP100way_vertebrate=-0.436;phyloP20way_mammalian=-0.185;SiPhy_29way_logOdds=9.867;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:621,0,503 1 91870130 rs12757326 G A 174.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHFM1;Func=intronic;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370425.7;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.8746;1000g2015aug_all=0.884385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:203,15,0 1 91870626 rs55841380 C T 258.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.059;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.563;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001017975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55841380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.1124;1000g2015aug_all=0.0950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:287,0,251 1 91912846 rs61802661 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001017975,NM_001134419;GeneDetail=dist\x3e42420\x3bdist\x3e53558;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2642\x3bName\x3e"193910:AluY(SINE)";avsnp150=rs61802661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.4409;1000g2015aug_all=0.566893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 91912873 rs61802662 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001017975,NM_001134419;GeneDetail=dist\x3e42447\x3bdist\x3e53531;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2642\x3bName\x3e"193910:AluY(SINE)";avsnp150=rs61802662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.438;1000g2015aug_all=0.564097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 91916806 rs11810012 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001017975,NM_001134419;GeneDetail=dist\x3e46380\x3bdist\x3e49598;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1172\x3bName\x3e"193915:AluSx(SINE)";avsnp150=rs11810012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.4236;1000g2015aug_all=0.52476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 91916846 rs540243 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001017975,NM_001134419;GeneDetail=dist\x3e46420\x3bdist\x3e49558;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs540243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.8916;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.7277;1000g2015aug_all=0.85004;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 91973557 rs553606 T G 1057.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC7;Func=intronic;Gene=NM_001134419,NM_001134420,NM_003503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428239.5,ENST00000234626.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs553606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1086,107,0 1 91974034 rs1876264 G A 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.165;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC7;Func=intronic;Gene=NM_001134419,NM_001134420,NM_003503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234626.10,ENST00000428239.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1876264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.498;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.2965;1000g2015aug_amr=0.2853;1000g2015aug_all=0.339856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:263,0,399 1 91980447 rs483532 A G 736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.455;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.281;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC7;Func=exonic;Gene=NM_001134419,NM_001134420,NM_003503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDC7:NM_001134419:exon9:c.A990G:p.T330T,CDC7:NM_001134420:exon9:c.A990G:p.T330T,CDC7:NM_003503:exon9:c.A990G:p.T330T;Gencode=Name\x3eENST00000428239.5,ENST00000234626.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs483532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.7824;1000g2015aug_all=0.76897;esp6500siv2_all=0.7792;ExAC_ALL=0.7773;ExAC_AFR=0.7855;ExAC_AMR=0.8280;ExAC_EAS=0.7572;ExAC_FIN=0.7461;ExAC_NFE=0.7779;ExAC_OTH=0.7621;ExAC_SAS=0.7584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,30:61:99:765,0,752 1 91980649 rs10874758 G A 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.753;DP=44;ExcessHet=3.0103;FS=1.49;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.593;SOR=1.167;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC7;Func=intronic;Gene=NM_001134419,NM_001134420,NM_003503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234626.10,ENST00000428239.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.498;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.2853;1000g2015aug_all=0.340056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,19:44:99:558,0,730 1 91989572 rs488126 T G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC7;Func=intronic;Gene=NM_001134419,NM_001134420,NM_003503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428239.5,ENST00000234626.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"194065:(T)n(Simple_repeat)";avsnp150=rs488126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9986;1000g2015aug_all=0.988419;esp6500siv2_all=0.9890;ExAC_ALL=0.9749;ExAC_AFR=0.9601;ExAC_AMR=0.9913;ExAC_EAS=0.9999;ExAC_FIN=0.9617;ExAC_NFE=0.9698;ExAC_OTH=0.9692;ExAC_SAS=0.9855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 92038225 rs925192 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134419,NM_003243;GeneDetail=dist\x3e46904\x3bdist\x3e107675;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e394\x3bName\x3e"194154:MIRb(SINE)";avsnp150=rs925192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.8818;1000g2015aug_all=0.867612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92066852 rs11578483 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134419,NM_003243;GeneDetail=dist\x3e75531\x3bdist\x3e79048;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e328\x3bName\x3e"194207:L2c(LINE)";avsnp150=rs11578483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.09;1000g2015aug_amr=0.2133;1000g2015aug_all=0.155551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 92081220 rs34527941 A T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134419,NM_003243;GeneDetail=dist\x3e89899\x3bdist\x3e64680;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1846\x3bName\x3e"194232:AluJr(SINE)";avsnp150=rs34527941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 92101035 rs11165115 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134419,NM_003243;GeneDetail=dist\x3e109714\x3bdist\x3e44865;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11165115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.337;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.2061;1000g2015aug_all=0.15635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 92108899 rs2493202 C T 2692.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001134419,NM_003243;GeneDetail=dist\x3e117578\x3bdist\x3e37001;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=Score\x3e0.914221\x3bName\x3echr15:99258502;Repeat=.;avsnp150=rs2493202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.866;1000g2015aug_all=0.821086;esp6500siv2_all=.;ExAC_ALL=0.7816;ExAC_AFR=0.7129;ExAC_AMR=0.8810;ExAC_EAS=0.9720;ExAC_FIN=0.6874;ExAC_NFE=0.7330;ExAC_OTH=0.7627;ExAC_SAS=0.8904;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:2721,255,0 1 92149277 rs1131243 C T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.268;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.19;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=UTR3;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=NM_001195683:c.*19G>A\x3bNM_001195684:c.*19G>A\x3bNM_003243:c.*19G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e36\x3bName\x3e"194392:(GCTGGGTTGG)n(Simple_repeat)";avsnp150=rs1131243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.159;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.0893;1000g2015aug_all=0.101238;esp6500siv2_all=0.1439;ExAC_ALL=0.1789;ExAC_AFR=0.1081;ExAC_AMR=0.2004;ExAC_EAS=0.1864;ExAC_FIN=0.3186;ExAC_NFE=0.2342;ExAC_OTH=0.1882;ExAC_SAS=0.1214;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:249,0,200 1 92160957 rs1555887 C T 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525962.5,ENST00000370399.6,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.7349;1000g2015aug_all=0.718051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:101,0,30 1 92163330 rs2810886 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000525962.5,ENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.8589;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.7507;1000g2015aug_all=0.740615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 92163343 rs2765889 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3631;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.7262;1000g2015aug_all=0.702875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 92163786 rs2296621 G T 121.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.3;ReadPosRankSum=-0.21;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.0821;1000g2015aug_all=0.105032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:150,0,24 1 92174260 rs284878 A G 2729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.361;DP=206;ExcessHet=3.0103;FS=1.073;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.647;SOR=0.785;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=exonic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000525962.5,ENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs284878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.953;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9712;1000g2015aug_all=0.906749;esp6500siv2_all=0.9394;ExAC_ALL=0.9337;ExAC_AFR=0.9379;ExAC_AMR=0.9710;ExAC_EAS=0.7731;ExAC_FIN=0.9716;ExAC_NFE=0.9395;ExAC_OTH=0.9361;ExAC_SAS=0.9504;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:108,98:206:99:2758,0,2920 1 92177612 rs284869 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs284869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.953;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9697;1000g2015aug_all=0.903554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92177938 rs1805113 A G 949.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.006;DP=73;ExcessHet=3.0103;FS=1.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.944;SOR=0.996;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=exonic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0863;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.2882;1000g2015aug_all=0.279752;esp6500siv2_all=0.4048;ExAC_ALL=0.3660;ExAC_AFR=0.3400;ExAC_AMR=0.2796;ExAC_EAS=0.1070;ExAC_FIN=0.3618;ExAC_NFE=0.4402;ExAC_OTH=0.3234;ExAC_SAS=0.2829;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,36:73:99:978,0,1007 1 92178260 rs1613413 A G 41.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1613413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.954;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9697;1000g2015aug_all=0.903754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 1 92184814 rs7524066 G T 1380.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.597;DP=116;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.762;SOR=0.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525962.5,ENST00000370399.6,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.1599;1000g2015aug_all=0.227236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,57:116:99:1409,0,1624 1 92185185 rs2279455 T C 333.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.051;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=1.199;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.618;1000g2015aug_amr=0.5908;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:362,0,330 1 92185657 rs1805112 C T 2161.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=exonic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.2824;1000g2015aug_all=0.40615;esp6500siv2_all=0.3817;ExAC_ALL=0.4177;ExAC_AFR=0.3071;ExAC_AMR=0.2673;ExAC_EAS=0.5325;ExAC_FIN=0.4836;ExAC_NFE=0.4373;ExAC_OTH=0.4207;ExAC_SAS=0.4268;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2190,194,0 1 92195601 rs10783002 G A 465.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.193;DP=38;ExcessHet=3.0103;FS=3.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.72;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525962.5,ENST00000370399.6,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10783002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.4553;1000g2015aug_all=0.425919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,17:38:99:494,0,627 1 92195746 rs10783003 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.241;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000525962.5,ENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10783003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.6254;1000g2015aug_all=0.551917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 92199546 rs6604051 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1793\x3bName\x3e"194465:AluJo(SINE)";avsnp150=rs6604051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.182;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5582;1000g2015aug_amr=0.3213;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 92200218 rs2306887 T C 216.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e272\x3bName\x3e"194468:Plat_L3(LINE)";avsnp150=rs2306887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.183;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.5582;1000g2015aug_amr=0.3213;1000g2015aug_all=0.373403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:245,18,0 1 92200597 rs12124904 G A 1343.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525962.5,ENST00000370399.6,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12124904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.183;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.3213;1000g2015aug_all=0.372005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1372,120,0 1 92200627 rs10874913 T C 1052.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=3.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000525962.5,ENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.964;1000g2015aug_all=0.890575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1081,90,0 1 92223976 rs284176 A G 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.58;ReadPosRankSum=-0.967;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs284176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.6686;1000g2015aug_all=0.663938;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:304,0,53 1 92224067 rs3738441 C T 448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.051;DP=38;ExcessHet=3.0103;FS=4.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.015;SOR=1.888;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.357;1000g2015aug_amr=0.3401;1000g2015aug_all=0.362021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:477,0,800 1 92224347 rs11165441 G A 1059.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.409;DP=83;ExcessHet=3.0103;FS=6.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=2;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11165441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.045;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.1671;1000g2015aug_all=0.153954;esp6500siv2_all=0.1522;ExAC_ALL=0.1407;ExAC_AFR=0.1456;ExAC_AMR=0.1275;ExAC_EAS=0.2595;ExAC_FIN=0.0793;ExAC_NFE=0.1520;ExAC_OTH=0.1313;ExAC_SAS=0.0643;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,41:83:99:1088,0,1232 1 92243119 rs1473767 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.4337;1000g2015aug_all=0.509385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 92243123 rs1473768 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.2666;1000g2015aug_all=0.20008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 92262874 rs2810904 T C 2885.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.485;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=exonic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TGFBR3:NM_001195683:exon3:c.A216G:p.A72A,TGFBR3:NM_003243:exon3:c.A216G:p.A72A,TGFBR3:NM_001195684:exon4:c.A216G:p.A72A;Gencode=Name\x3eENST00000370399.6,ENST00000525962.5,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.7176;1000g2015aug_all=0.715256;esp6500siv2_all=0.6786;ExAC_ALL=0.6631;ExAC_AFR=0.7551;ExAC_AMR=0.6346;ExAC_EAS=0.7921;ExAC_FIN=0.6061;ExAC_NFE=0.6386;ExAC_OTH=0.6817;ExAC_SAS=0.6782;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:2914,276,0 1 92305828 rs12134037 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000465892.6,ENST00000212355.8,ENST00000370399.6,ENST00000525962.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2109\x3bName\x3e"194655:AluSx(SINE)";avsnp150=rs12134037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.3285;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 92331129 rs12404119 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000212355.8,ENST00000465892.6,ENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12404119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.5735;1000g2015aug_all=0.505192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 92331131 rs12402298 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000465892.6,ENST00000212355.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12402298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.5735;1000g2015aug_all=0.505192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 92347275 rs4658117 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195683,NM_001195684,NM_003243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6,ENST00000212355.8,ENST00000465892.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.7126;1000g2015aug_amr=0.8804;1000g2015aug_all=0.798323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 92368029 rs12090417 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTGFBR3;Func=intronic;Gene=NM_001195684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370399.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1890\x3bName\x3e"194789:AluJo(SINE)";avsnp150=rs12090417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.4049;1000g2015aug_all=0.396166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92428495 rs10783071 C A 567.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=exonic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BRDT:NM_001242806:exon2:c.C184A:p.Q62K,BRDT:NM_001242807:exon2:c.C184A:p.Q62K,BRDT:NM_001242808:exon2:c.C184A:p.Q62K,BRDT:NM_001726:exon2:c.C184A:p.Q62K,BRDT:NM_207189:exon2:c.C184A:p.Q62K,BRDT:NM_001242805:exon3:c.C184A:p.Q62K;Gencode=Name\x3eENST00000370389.6,ENST00000399546.6,ENST00000362005.7,ENST00000394530.7,ENST00000402388.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10783071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.6551;1000g2015aug_amr=0.8415;1000g2015aug_all=0.75599;esp6500siv2_all=0.8592;ExAC_ALL=0.8763;ExAC_AFR=0.6939;ExAC_AMR=0.8910;ExAC_EAS=0.6033;ExAC_FIN=0.9524;ExAC_NFE=0.9374;ExAC_OTH=0.8906;ExAC_SAS=0.8452;SIFT_score=0.582;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.52;MutationAssessor_pred=N;FATHMM_score=1.58;FATHMM_pred=T;phyloP100way_vertebrate=1.215;phyloP20way_mammalian=0.234;SiPhy_29way_logOdds=6.707;gerp++gt2=2.25;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:596,51,0 1 92444125 rs4658284 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=intronic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000402388.1,ENST00000394530.7,ENST00000362005.7,ENST00000399546.6,ENST00000370389.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.7205;1000g2015aug_all=0.644369;esp6500siv2_all=0.6923;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92446112 rs11165911 T C 176.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=intronic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000402388.1,ENST00000362005.7,ENST00000394530.7,ENST00000399546.6,ENST00000370389.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11165911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.7781;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:205,18,0 1 92446398 rs2303967 T A 528.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=intronic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394530.7,ENST00000362005.7,ENST00000402388.1,ENST00000399546.6,ENST00000370389.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2303967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.497;1000g2015aug_amr=0.7291;1000g2015aug_all=0.661542;esp6500siv2_all=0.7036;ExAC_ALL=0.7601;ExAC_AFR=0.5470;ExAC_AMR=0.8225;ExAC_EAS=0.5999;ExAC_FIN=0.8389;ExAC_NFE=0.7891;ExAC_OTH=0.7822;ExAC_SAS=0.7832;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:557,48,0 1 92447004 rs10875104 A G 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=intronic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000399546.6,ENST00000370389.6,ENST00000402388.1,ENST00000394530.7,ENST00000362005.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e813\x3bName\x3e"195046:AluJr(SINE)";avsnp150=rs10875104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.7781;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 92457843 rs10747493 C T 1050.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=3.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=exonic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BRDT:NM_001242807:exon13:c.C1949T:p.P650L,BRDT:NM_001242808:exon13:c.C1949T:p.P650L,BRDT:NM_001242806:exon14:c.C2099T:p.P700L,BRDT:NM_001242810:exon14:c.C1868T:p.P623L,BRDT:NM_001726:exon14:c.C2087T:p.P696L,BRDT:NM_207189:exon14:c.C2087T:p.P696L,BRDT:NM_001242805:exon15:c.C2087T:p.P696L;Gencode=Name\x3eENST00000362005.7,ENST00000394530.7,ENST00000402388.1,ENST00000399546.6,ENST00000370389.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10747493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.5908;1000g2015aug_amr=0.7738;1000g2015aug_all=0.710064;esp6500siv2_all=0.7782;ExAC_ALL=0.8166;ExAC_AFR=0.6356;ExAC_AMR=0.8512;ExAC_EAS=0.6111;ExAC_FIN=0.9006;ExAC_NFE=0.8549;ExAC_OTH=0.8300;ExAC_SAS=0.8223;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.442;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=3.33;FATHMM_pred=T;phyloP100way_vertebrate=-0.926;phyloP20way_mammalian=-0.134;SiPhy_29way_logOdds=2.431;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1079,90,0 1 92467439 rs2303968 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRDT;Func=intronic;Gene=NM_001242805,NM_001242806,NM_001242807,NM_001242808,NM_001242810,NM_001726,NM_207189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394530.7,ENST00000362005.7,ENST00000402388.1,ENST00000399546.6,ENST00000370389.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2303968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.59;1000g2015aug_amr=0.7767;1000g2015aug_all=0.710863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92573670 rs11166163 G A 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.423;DP=52;ExcessHet=3.0103;FS=2.491;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.885;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBTBD8;Func=intronic;Gene=NM_183242;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370382.7,ENST00000342818.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11166163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.317;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2853;1000g2015aug_all=0.205272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,29:52:99:666,0,629 1 92646021 rs1483022 G A 422.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.623;DP=47;ExcessHet=3.0103;FS=2.731;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.199;SOR=1.345;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=exonic;Gene=NM_015237;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1107:NM_015237:exon6:c.G1242A:p.K414K;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1483022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.6066;1000g2015aug_all=0.710863;esp6500siv2_all=.;ExAC_ALL=0.6736;ExAC_AFR=0.5994;ExAC_AMR=0.6176;ExAC_EAS=0.9695;ExAC_FIN=0.5142;ExAC_NFE=0.6359;ExAC_OTH=0.6803;ExAC_SAS=0.7477;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,17:47:99:451,0,805 1 92647223 rs560389 A G 569.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.016;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.109;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=exonic;Gene=NM_015237;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1107:NM_015237:exon6:c.A2444G:p.N815S;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs560389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.772;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.6614;1000g2015aug_all=0.83127;esp6500siv2_all=0.7511;ExAC_ALL=0.7387;ExAC_AFR=0.9355;ExAC_AMR=0.6925;ExAC_EAS=0.9773;ExAC_FIN=0.5825;ExAC_NFE=0.6788;ExAC_OTH=0.7017;ExAC_SAS=0.7682;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.094;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.595;MutationAssessor_pred=N;FATHMM_score=3.6;FATHMM_pred=T;phyloP100way_vertebrate=2.171;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=5.774;gerp++gt2=3.6;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:598,0,611 1 92647532 rs565156 C A 1490.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=exonic;Gene=NM_015237;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1107:NM_015237:exon6:c.C2753A:p.T918N;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs565156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9861;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9899;1000g2015aug_all=0.995607;esp6500siv2_all=0.9866;ExAC_ALL=0.9918;ExAC_AFR=0.9987;ExAC_AMR=0.9927;ExAC_EAS=1;ExAC_FIN=0.9933;ExAC_NFE=0.9828;ExAC_OTH=0.988;ExAC_SAS=0.9994;SIFT_score=0.356;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.960;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.25;FATHMM_pred=T;phyloP100way_vertebrate=0.697;phyloP20way_mammalian=-0.333;SiPhy_29way_logOdds=12.461;gerp++gt2=3.82;CADD=1.317;CADD_Phred=12.36;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1519,129,0 1 92647636 rs17578364 T G 543.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.071;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-1.721;SOR=0.685;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=exonic;Gene=NM_015237;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1107:NM_015237:exon6:c.T2857G:p.F953V;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17578364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0315495;esp6500siv2_all=0.0473;ExAC_ALL=0.0476;ExAC_AFR=0.0123;ExAC_AMR=0.0729;ExAC_EAS=0;ExAC_FIN=0.0443;ExAC_NFE=0.0540;ExAC_OTH=0.025;ExAC_SAS=0.0538;SIFT_score=0.57;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.102;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=3.7;FATHMM_pred=T;phyloP100way_vertebrate=0.046;phyloP20way_mammalian=-0.067;SiPhy_29way_logOdds=6.257;gerp++gt2=4.15;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,24:59:99:572,0,913 1 92649292 rs570368 A T 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.029;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=intronic;Gene=NM_015237;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs570368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.772;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.6643;1000g2015aug_all=0.833067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,173 1 92649335 rs569593 A G 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.275;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.579;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1107;Func=intronic;Gene=NM_015237;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370378.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs569593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.772;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.6657;1000g2015aug_all=0.833466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,6:20:99:212,0,584 1 92711067 rs3131827 A T 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.08;ReadPosRankSum=0.21;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf146;Func=intronic;Gene=NM_001012425;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370375.7,ENST00000370373.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3131827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.4885;1000g2015aug_all=0.620807;esp6500siv2_all=0.4528;ExAC_ALL=0.5246;ExAC_AFR=0.4600;ExAC_AMR=0.5084;ExAC_EAS=0.9709;ExAC_FIN=0.3583;ExAC_NFE=0.4476;ExAC_OTH=0.5365;ExAC_SAS=0.7182;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:69:69,0,152 1 92712266 rs974924 C T 926.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=1.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLMN;Func=intronic;Gene=NM_001319683,NM_053274;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370360.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"195665:A-rich(Low_complexity)";avsnp150=rs974924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:955,84,0 1 92735359 rs1487540 T C 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.832;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.64;ReadPosRankSum=0.634;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLMN;Func=intronic;Gene=NM_001319683,NM_053274;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370360.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"195702:(ACATAT)n(Simple_repeat)";avsnp150=rs1487540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.472;1000g2015aug_amr=0.4885;1000g2015aug_all=0.619808;esp6500siv2_all=0.4544;ExAC_ALL=0.5443;ExAC_AFR=0.4820;ExAC_AMR=0.5226;ExAC_EAS=0.9717;ExAC_FIN=0.3753;ExAC_NFE=0.4685;ExAC_OTH=0.5537;ExAC_SAS=0.7220;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,5:23:89:89,0,444 1 92764828 rs10875348 T A 910.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPAP2;Func=intronic;Gene=NM_024813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610020.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10875348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:939,87,0 1 92765848 rs1542685 A T 246.88 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPAP2;Func=intronic;Gene=NM_024813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610020.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1542685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.472;1000g2015aug_amr=0.4885;1000g2015aug_all=0.619609;esp6500siv2_all=0.4479;ExAC_ALL=0.5231;ExAC_AFR=0.4567;ExAC_AMR=0.5069;ExAC_EAS=0.9711;ExAC_FIN=0.3579;ExAC_NFE=0.4466;ExAC_OTH=0.5378;ExAC_SAS=0.7188;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:16:275,0,16 1 92791812 rs6668685 G T 161.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPAP2;Func=intronic;Gene=NM_024813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610020.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2039\x3bName\x3e"195816:L1ME3A(LINE)";avsnp150=rs6668685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.8876;1000g2015aug_all=0.931709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:190,21,0 1 92799151 rs1487537 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPAP2;Func=intronic;Gene=NM_024813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610020.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1487537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.8876;1000g2015aug_all=0.931709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 92852504 rs10747411 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPAP2;Func=intronic;Gene=NM_024813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610020.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1915\x3bName\x3e"195929:AluSx3(SINE)";avsnp150=rs10747411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.8876;1000g2015aug_all=0.93151;esp6500siv2_all=0.8487;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 92941357 rs4970714 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGFI1;Func=UTR3;Gene=NM_001127215,NM_001127216,NM_005263;GeneDetail=NM_001127215:c.*229T>C\x3bNM_001127216:c.*229T>C\x3bNM_005263:c.*229T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370332.5,ENST00000294702.5,ENST00000427103.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970714;cosmic70=.;CLNALLELEID=283194;CLNDN=Severe_congenital_neutropenia;CLNDISDB=Human_Phenotype_Ontology:HP:0005549,MedGen:C1853118,Orphanet:ORPHA42738;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9613;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.8169;1000g2015aug_amr=0.745;1000g2015aug_all=0.808307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 92946479 rs11164605 G A 511.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGFI1;Func=exonic;Gene=NM_001127215,NM_001127216,NM_005263;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GFI1:NM_001127215:exon4:c.C465T:p.C155C,GFI1:NM_001127216:exon4:c.C465T:p.C155C,GFI1:NM_005263:exon4:c.C465T:p.C155C;Gencode=Name\x3eENST00000427103.5,ENST00000294702.5,ENST00000370332.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164605;cosmic70=.;CLNALLELEID=206837;CLNDN=Severe_congenital_neutropenia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0005549,MedGen:C1853118,Orphanet:ORPHA42738|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.944;1000g2015aug_amr=0.889;1000g2015aug_all=0.91893;esp6500siv2_all=0.8519;ExAC_ALL=0.8883;ExAC_AFR=0.9297;ExAC_AMR=0.9287;ExAC_EAS=0.9696;ExAC_FIN=0.8115;ExAC_NFE=0.8350;ExAC_OTH=0.9110;ExAC_SAS=0.9494;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:540,51,0 1 92979354 rs6603979 A G 2262.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=exonic;Gene=NM_001308248,NM_001350197,NM_005665;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6603979;cosmic70=.;CLNALLELEID=389473;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.8905;1000g2015aug_all=0.920327;esp6500siv2_all=0.8384;ExAC_ALL=0.8520;ExAC_AFR=0.9295;ExAC_AMR=0.9175;ExAC_EAS=0.9633;ExAC_FIN=0.7755;ExAC_NFE=0.7973;ExAC_OTH=0.8590;ExAC_SAS=0.9501;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2291,210,0 1 93019313 rs6603987 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6603987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.8905;1000g2015aug_all=0.919928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 93029453 rs6656432 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.8905;1000g2015aug_all=0.919928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 93071048 rs2050597 G T 829.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e957\x3bName\x3e"196416:MER46C(DNA)";avsnp150=rs2050597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9452;1000g2015aug_all=0.950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:858,69,0 1 93088183 rs10874724 C A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.7089;1000g2015aug_all=0.689097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 93089823 rs7514716 T C 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=exonic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514716;cosmic70=.;CLNALLELEID=389434;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.9554;1000g2015aug_amr=0.9395;1000g2015aug_all=0.949081;esp6500siv2_all=0.9132;ExAC_ALL=0.9216;ExAC_AFR=0.9452;ExAC_AMR=0.9564;ExAC_EAS=0.9635;ExAC_FIN=0.8810;ExAC_NFE=0.8988;ExAC_OTH=0.9349;ExAC_SAS=0.9679;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 93112584 rs7529332 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7529332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9452;1000g2015aug_all=0.950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 93128854 rs10747450 A G 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10747450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9452;1000g2015aug_all=0.950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 93160902 rs2391199 T C 1194.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=0.984;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=exonic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2391199;cosmic70=.;CLNALLELEID=389440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.9546;1000g2015aug_amr=0.9452;1000g2015aug_all=0.95028;esp6500siv2_all=0.9130;ExAC_ALL=0.9216;ExAC_AFR=0.9438;ExAC_AMR=0.9566;ExAC_EAS=0.9634;ExAC_FIN=0.8809;ExAC_NFE=0.8991;ExAC_OTH=0.9328;ExAC_SAS=0.9676;SIFT_score=0.606;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_pred=N;MutationTaster_score=0.012;MutationTaster_pred=P;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=2.01;FATHMM_pred=T;phyloP100way_vertebrate=-0.141;phyloP20way_mammalian=0.993;SiPhy_29way_logOdds=7.969;gerp++gt2=2.3;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1223,111,0 1 93163385 rs7418336 A G 498.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7418336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.7075;1000g2015aug_all=0.709065;esp6500siv2_all=0.601;ExAC_ALL=0.6838;ExAC_AFR=0.5548;ExAC_AMR=0.7680;ExAC_EAS=0.9201;ExAC_FIN=0.6411;ExAC_NFE=0.6356;ExAC_OTH=0.6792;ExAC_SAS=0.7931;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:527,48,0 1 93163633 rs1017008 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540033.2,ENST00000370331.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1017008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.9546;1000g2015aug_amr=0.9452;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93167610 rs10218567 C T 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10218567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.9546;1000g2015aug_amr=0.9452;1000g2015aug_all=0.95008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 93167854 rs10218670 A G 225.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_001350197,NM_001350198,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10218670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.9546;1000g2015aug_amr=0.9452;1000g2015aug_all=0.95008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:254,24,0 1 93257677 rs11164813 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEVI5;Func=intronic;Gene=NM_001308248,NM_005665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370331.5,ENST00000540033.2;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.938;1000g2015aug_all=0.934305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 93303451 rs6659942 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A,RPL5;Func=intronic;Gene=NM_000969,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615519.4,ENST00000370321.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.9049;1000g2015aug_all=0.88119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 93306317 rs10874744 G A 2901.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPL5,FAM69A,SNORA66;Func=ncRNA_exonic;Gene=NR_002444;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000384792.1,ENST00000615519.4,ENST00000370321.7;cytoBand=1p22.1;wgRna=Name\x3eU66;genomicSuperDups=.;Repeat=.;avsnp150=rs10874744;cosmic70=.;CLNALLELEID=283380;CLNDN=Diamond-Blackfan_anemia;CLNDISDB=Human_Phenotype_Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED_CT:88854002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.6902;1000g2015aug_all=0.691893;esp6500siv2_all=0.5691;ExAC_ALL=0.6770;ExAC_AFR=0.4594;ExAC_AMR=0.7710;ExAC_EAS=0.9502;ExAC_FIN=0.6251;ExAC_NFE=0.6241;ExAC_OTH=0.6919;ExAC_SAS=0.8072;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2930,264,0 1 93355246 rs2774952 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A;Func=intronic;Gene=NM_001006605,NM_001252269,NM_001252270,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616709.4,ENST00000613902.4,ENST00000370310.4,ENST00000615519.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1883\x3bName\x3e"197094:AluJb(SINE)";avsnp150=rs2774952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.7248;1000g2015aug_all=0.776558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93355254 rs2774953 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A;Func=intronic;Gene=NM_001006605,NM_001252269,NM_001252270,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616709.4,ENST00000613902.4,ENST00000370310.4,ENST00000615519.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1883\x3bName\x3e"197094:AluJb(SINE)";avsnp150=rs2774953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.7075;1000g2015aug_all=0.739816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93363951 rs2811591 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A;Func=intronic;Gene=NM_001006605,NM_001252269,NM_001252270,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370310.4,ENST00000615519.4,ENST00000616709.4,ENST00000613902.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2446\x3bName\x3e"197100:MSTB(LTR)";avsnp150=rs2811591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.7248;1000g2015aug_all=0.776558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93426866 rs945629 T C 806.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A;Func=intronic;Gene=NM_001006605,NM_001252269,NM_001252270,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616709.4,ENST00000613902.4,ENST00000615519.4,ENST00000370310.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:57:835,57,0 1 93426869 rs1415069 G C 806.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM69A;Func=intronic;Gene=NM_001006605,NM_001252269,NM_001252270,NM_001252273;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613902.4,ENST00000616709.4,ENST00000370310.4,ENST00000615519.4;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1415069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.827;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.7882;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:835,57,0 1 93469505 rs2785607 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001252273,NM_001164391;GeneDetail=dist\x3e42426\x3bdist\x3e75287;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2312\x3bName\x3e"197326:AluSc(SINE)";avsnp150=rs2785607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93474900 rs592751 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001252273,NM_001164391;GeneDetail=dist\x3e47821\x3bdist\x3e69892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10038\x3bName\x3e"197345:HSMAR1(DNA)";avsnp150=rs592751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.3516;1000g2015aug_all=0.420727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93475069 rs591868 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001252273,NM_001164391;GeneDetail=dist\x3e47990\x3bdist\x3e69723;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10038\x3bName\x3e"197345:HSMAR1(DNA)";avsnp150=rs591868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3516;1000g2015aug_all=0.420927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93495993 rs4491068 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001252273,NM_001164391;GeneDetail=dist\x3e68914\x3bdist\x3e48799;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4491068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.9957;1000g2015aug_all=0.993011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93545157 rs2815419 G A 2694.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545708.5,ENST00000370298.8,ENST00000370303.4,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9335;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.8761;1000g2015aug_all=0.77496;esp6500siv2_all=0.7954;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2723,248,0 1 93552841 rs2815423 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540243.5,ENST00000370298.8,ENST00000370303.4,ENST00000545708.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.8761;1000g2015aug_all=0.77476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93552858 . G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370303.4,ENST00000370298.8,ENST00000545708.5,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2339\x3bName\x3e"197555:AluSx(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93576302 rs494745 T G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545708.5,ENST00000370298.8,ENST00000370303.4,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs494745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 93580879 rs2295424 T C 681.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540243.5,ENST00000545708.5,ENST00000370303.4,ENST00000370298.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6409;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.585;1000g2015aug_all=0.492013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:710,51,0 1 93580992 rs566843 C T 1369.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370298.8,ENST00000370303.4,ENST00000545708.5,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs566843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.908;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.7781;1000g2015aug_all=0.665735;esp6500siv2_all=0.5995;ExAC_ALL=0.7437;ExAC_AFR=0.2499;ExAC_AMR=0.7994;ExAC_EAS=0.9330;ExAC_FIN=0.7592;ExAC_NFE=0.7579;ExAC_OTH=0.7536;ExAC_SAS=0.8820;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1398,130,0 1 93581024 rs2295423 T C 2893.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540243.5,ENST00000370298.8,ENST00000370303.4,ENST00000545708.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6409;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.5893;1000g2015aug_all=0.497604;esp6500siv2_all=0.4793;ExAC_ALL=0.5919;ExAC_AFR=0.1639;ExAC_AMR=0.5090;ExAC_EAS=0.6416;ExAC_FIN=0.6372;ExAC_NFE=0.6384;ExAC_OTH=0.6045;ExAC_SAS=0.6920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2922,245,0 1 93584199 rs550892 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545708.5,ENST00000370303.4,ENST00000370298.8,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs550892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.908;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.7781;1000g2015aug_all=0.665735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 93592577 rs490153 T A 174.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545708.5,ENST00000370303.4,ENST00000370298.8,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e584\x3bName\x3e"197649:MIRc(SINE)";avsnp150=rs490153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.908;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.7781;1000g2015aug_all=0.665735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:203,15,0 1 93596936 rs1010476 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540243.5,ENST00000370298.8,ENST00000370303.4,ENST00000545708.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1712\x3bName\x3e"197655:L2a(LINE)";avsnp150=rs1010476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.969;1000g2015aug_amr=0.8213;1000g2015aug_all=0.849042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93602194 rs2281524 C T 2120.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=1.394;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTF2;Func=intronic;Gene=NM_001164391,NM_001164392,NM_001164393,NM_007358;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545708.5,ENST00000370303.4,ENST00000370298.8,ENST00000540243.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.9629;1000g2015aug_amr=0.8213;1000g2015aug_all=0.846845;esp6500siv2_all=0.9106;ExAC_ALL=0.8636;ExAC_AFR=0.9474;ExAC_AMR=0.7143;ExAC_EAS=0.7058;ExAC_FIN=0.9184;ExAC_NFE=0.9026;ExAC_OTH=0.8727;ExAC_SAS=0.8132;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2149,214,0 1 93620393 rs1060622 G A 1849.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=1.057;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMED5;Func=exonic;Gene=NM_001167830,NM_016040;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMED5:NM_016040:exon4:c.C524T:p.T175I;Gencode=Name\x3eENST00000479918.5,ENST00000370282.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1060622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6438;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.5836;1000g2015aug_all=0.490415;esp6500siv2_all=0.4703;ExAC_ALL=0.5864;ExAC_AFR=0.1440;ExAC_AMR=0.5008;ExAC_EAS=0.6418;ExAC_FIN=0.6370;ExAC_NFE=0.6365;ExAC_OTH=0.6035;ExAC_SAS=0.6723;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.945;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.71;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.36;FATHMM_pred=T;phyloP100way_vertebrate=7.970;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=10.854;gerp++gt2=3.94;CADD=4.001;CADD_Phred=23.6;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:1878,185,0 1 93621483 rs1057257 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMED5;Func=intronic;Gene=NM_001167830,NM_016040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000479918.5,ENST00000370282.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.1346;1000g2015aug_amr=0.6023;1000g2015aug_all=0.516374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 93646207 rs2297707 T C 2233.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.9;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMED5;Func=UTR5;Gene=NM_001167830,NM_016040;GeneDetail=NM_001167830:c.-408A>G\x3bNM_016040:c.-408A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7,ENST00000370282.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6438;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.6009;1000g2015aug_all=0.515176;esp6500siv2_all=0.5303;ExAC_ALL=0.6157;ExAC_AFR=0.2058;ExAC_AMR=0.5170;ExAC_EAS=0.6424;ExAC_FIN=0.6780;ExAC_NFE=0.6629;ExAC_OTH=0.6243;ExAC_SAS=0.6837;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2262,192,0 1 93646418 rs10874763 C T 768.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.125;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.871;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=UTR5;Gene=NM_001306076,NM_206886;GeneDetail=NM_001306076:c.-2501C>T\x3bNM_206886:c.-2501C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.325;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.1916;1000g2015aug_all=0.117812;esp6500siv2_all=0.2185;ExAC_ALL=0.2274;ExAC_AFR=0.0519;ExAC_AMR=0.1333;ExAC_EAS=0.0005;ExAC_FIN=0.3326;ExAC_NFE=0.3150;ExAC_OTH=0.2698;ExAC_SAS=0.1164;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,35:75:99:797,0,1005 1 93646620 rs2815408 C T 590.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.07;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401026.7,ENST00000343253.11;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e972\x3bName\x3e"197754:FLAM_C(SINE)";avsnp150=rs2815408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.7859;1000g2015aug_amr=0.8862;1000g2015aug_all=0.885583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:619,48,0 1 93648816 rs2815409 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.7859;1000g2015aug_amr=0.8862;1000g2015aug_all=0.885583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93649732 rs6682670 A G 548.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.9;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.6023;1000g2015aug_all=0.515775;esp6500siv2_all=0.5271;ExAC_ALL=0.6248;ExAC_AFR=0.2157;ExAC_AMR=0.5396;ExAC_EAS=0.6494;ExAC_FIN=0.6830;ExAC_NFE=0.6729;ExAC_OTH=0.6342;ExAC_SAS=0.6887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:577,45,0 1 93656588 rs7541687 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.6023;1000g2015aug_all=0.515775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 93659350 rs2815411 A T 532.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401026.7,ENST00000343253.11;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.7844;1000g2015aug_amr=0.8862;1000g2015aug_all=0.885184;esp6500siv2_all=0.8177;ExAC_ALL=0.8615;ExAC_AFR=0.7778;ExAC_AMR=0.9172;ExAC_EAS=0.9999;ExAC_FIN=0.8519;ExAC_NFE=0.8206;ExAC_OTH=0.8652;ExAC_SAS=0.9671;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:561,51,0 1 93672723 rs2815413 A C 795.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=exonic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2815413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9623;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.8415;1000g2015aug_all=0.748003;esp6500siv2_all=0.6985;ExAC_ALL=0.8245;ExAC_AFR=0.3934;ExAC_AMR=0.9028;ExAC_EAS=0.9593;ExAC_FIN=0.8515;ExAC_NFE=0.8204;ExAC_OTH=0.8374;ExAC_SAS=0.9561;SIFT_score=0.584;SIFT_pred=T;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.169;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.079;MutationTaster_pred=P;MutationAssessor_score=1.995;MutationAssessor_pred=M;FATHMM_score=2.31;FATHMM_pred=T;phyloP100way_vertebrate=1.766;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=8.460;gerp++gt2=4.58;CADD=3.050;CADD_Phred=22.4;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:824,69,0 1 93676314 rs555161 A G 870.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401026.7,ENST00000343253.11;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs555161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.6023;1000g2015aug_all=0.515775;esp6500siv2_all=0.5281;ExAC_ALL=0.6209;ExAC_AFR=0.2088;ExAC_AMR=0.5461;ExAC_EAS=0.6517;ExAC_FIN=0.6795;ExAC_NFE=0.6707;ExAC_OTH=0.6373;ExAC_SAS=0.6841;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:899,69,0 1 93676578 rs797676 A G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.75;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2407\x3bName\x3e"197820:AluSg(SINE)";avsnp150=rs797676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.6352;1000g2015aug_afr=0.062;1000g2015aug_amr=0.585;1000g2015aug_all=0.489816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 93711782 rs3754186 T A 1054.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=intronic;Gene=NM_001306076,NM_206886;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343253.11,ENST00000401026.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5408;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.5274;1000g2015aug_all=0.442292;esp6500siv2_all=0.3855;ExAC_ALL=0.5061;ExAC_AFR=0.0886;ExAC_AMR=0.4730;ExAC_EAS=0.6387;ExAC_FIN=0.5445;ExAC_NFE=0.5225;ExAC_OTH=0.5334;ExAC_SAS=0.6267;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1083,96,0 1 93735934 rs41292129 A T 339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.462;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=1.174;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18;Func=exonic;Gene=NM_001306076;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC18:NM_001306076:exon28:c.A3913T:p.I1305F;Gencode=Name\x3eENST00000401026.7,ENST00000343253.11,ENST00000451302.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e308\x3bName\x3e"197950:L2a(LINE)";avsnp150=rs41292129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.0123802;esp6500siv2_all=.;ExAC_ALL=0.0276;ExAC_AFR=0.0057;ExAC_AMR=0.0109;ExAC_EAS=0;ExAC_FIN=0.0519;ExAC_NFE=0.0261;ExAC_OTH=0.0051;ExAC_SAS=0.0289;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=1.508;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=6.300;gerp++gt2=3.73;CADD=3.485;CADD_Phred=23.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,17:37:99:368,0,488 1 93786714 rs2031225 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC18-AS1;Func=ncRNA_intronic;Gene=NR_034089;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451302.6,ENST00000421202.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e870\x3bName\x3e"198073:L2a(LINE)";avsnp150=rs2031225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.6009;1000g2015aug_all=0.515375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 93811569 rs10782959 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDR1;Func=UTR5;Gene=NM_001938;GeneDetail=NM_001938:c.-634A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451302.6,ENST00000370267.1,ENST00000370272.8;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.6772;1000g2015aug_all=0.603035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 93841534 rs1081524 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001938,NM_017737;GeneDetail=dist\x3e13386\x3bdist\x3e72154;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13298\x3bName\x3e"198187:L1MA3(LINE)";avsnp150=rs1081524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.8718;1000g2015aug_all=0.856829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93841540 rs1081523 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001938,NM_017737;GeneDetail=dist\x3e13392\x3bdist\x3e72148;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13298\x3bName\x3e"198187:L1MA3(LINE)";avsnp150=rs1081523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.8718;1000g2015aug_all=0.856829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 93850283 rs12133907 C A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001938,NM_017737;GeneDetail=dist\x3e22135\x3bdist\x3e63405;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.5692;1000g2015aug_all=0.49361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 93865391 rs12138486 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001938,NM_017737;GeneDetail=dist\x3e37243\x3bdist\x3e48297;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3139\x3bName\x3e"198241:LTR49-int(LTR)";avsnp150=rs12138486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.6671;1000g2015aug_all=0.552915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 94002233 rs3767967 A G 261.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNBP1L;Func=intronic;Gene=NM_001024948,NM_001164473,NM_017737;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260506.12,ENST00000604705.5,ENST00000370253.6,ENST00000271234.11;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.5331;1000g2015aug_all=0.446486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 1 94012287 rs237425 G A 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNBP1L;Func=intronic;Gene=NM_001024948,NM_001164473,NM_017737;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260506.12,ENST00000370253.6,ENST00000604705.5,ENST00000271234.11;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs237425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.8401;1000g2015aug_all=0.885583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 94038775 rs237436 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408,NM_001261409,NM_001261410,NM_001308251,NM_003567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539242.5,ENST00000260502.10,ENST00000370244.5,ENST00000370243.1,ENST00000370247.7;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1839\x3bName\x3e"198593:AluSz6(SINE)";avsnp150=rs237436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.6945;1000g2015aug_all=0.73742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 94038847 rs6667494 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408,NM_001261409,NM_001261410,NM_001308251,NM_003567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370244.5,ENST00000260502.10,ENST00000539242.5,ENST00000370247.7,ENST00000370243.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1839\x3bName\x3e"198593:AluSz6(SINE)";avsnp150=rs6667494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.6182;1000g2015aug_all=0.489417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 94054382 rs236319 T C 294.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408,NM_001261409,NM_001261410,NM_003567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370247.7,ENST00000370243.1,ENST00000260502.10,ENST00000370244.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs236319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.6755;1000g2015aug_amr=0.5101;1000g2015aug_all=0.591254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:323,33,0 1 94088363 rs932523 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408,NM_001261409,NM_003567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260502.10,ENST00000370244.5,ENST00000370243.1;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.366;1000g2015aug_all=0.359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 94312566 . G * 1911.77 PASS AC=1;AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.67;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370244.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,27:43:99:1940,654,559 1 94312566 rs2391318 G T 1911.77 PASS AC=1;AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.67;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370244.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2391318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.8372;1000g2015aug_all=0.821885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,16:43:99:1940,1124,1062 1 94312567 . T * 1911.77 PASS AC=1;AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.7;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370244.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,27:43:99:1940,654,559 1 94312567 rs2391319 T C 1911.77 PASS AC=1;AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.7;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAR3;Func=intronic;Gene=NM_001261408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370244.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2391319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.8372;1000g2015aug_all=0.821885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,16:43:99:1940,1124,1062 1 94315977 rs2103784 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001261408,NM_014597;GeneDetail=dist\x3e3271\x3bdist\x3e19037;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7798\x3bName\x3e"199088:LTR13(LTR)";avsnp150=rs2103784;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.438;1000g2015aug_all=0.541334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 94335194 rs1051394 A T 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.682;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=UTR3;Gene=NM_014597;GeneDetail=NM_014597:c.*213T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.4337;1000g2015aug_all=0.536342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:89:121,0,89 1 94341137 rs2273166 C T 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=0.135;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=intronic;Gene=NM_014597;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.3934;1000g2015aug_all=0.446486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:181,0,101 1 94341267 rs2273165 A G 443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.054;DP=20;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=0.095;SOR=0.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=exonic;Gene=NM_014597;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.4337;1000g2015aug_all=0.533746;esp6500siv2_all=0.4555;ExAC_ALL=0.4754;ExAC_AFR=0.5286;ExAC_AMR=0.4806;ExAC_EAS=0.6274;ExAC_FIN=0.4044;ExAC_NFE=0.4266;ExAC_OTH=0.4676;ExAC_SAS=0.5859;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,16:20:99:472,0,113 1 94342564 rs3747965 C A 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.309;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=exonic;Gene=NM_014597;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNTTIP2:NM_014597:exon2:c.G927T:p.E309D;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.325;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.33;1000g2015aug_all=0.344848;esp6500siv2_all=0.2745;ExAC_ALL=0.3538;ExAC_AFR=0.1287;ExAC_AMR=0.3852;ExAC_EAS=0.5633;ExAC_FIN=0.2898;ExAC_NFE=0.3329;ExAC_OTH=0.3492;ExAC_SAS=0.4668;SIFT_score=0.156;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.813;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.735;MutationAssessor_pred=L;FATHMM_score=1.97;FATHMM_pred=T;phyloP100way_vertebrate=-1.697;phyloP20way_mammalian=0.022;SiPhy_29way_logOdds=4.542;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:225,0,369 1 94343023 rs2391322 A G 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.819;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.976;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=exonic;Gene=NM_014597;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNTTIP2:NM_014597:exon2:c.T468C:p.P156P;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2391322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.3718;1000g2015aug_all=0.436901;esp6500siv2_all=0.3644;ExAC_ALL=0.3931;ExAC_AFR=0.3861;ExAC_AMR=0.4187;ExAC_EAS=0.5730;ExAC_FIN=0.3083;ExAC_NFE=0.3532;ExAC_OTH=0.375;ExAC_SAS=0.4819;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:317,0,405 1 94343233 rs3789457 T C 1084.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.154;DP=91;ExcessHet=3.0103;FS=3.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.394;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=exonic;Gene=NM_014597;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNTTIP2:NM_014597:exon2:c.A258G:p.E86E;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7857;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.662;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.8069;1000g2015aug_all=0.759185;esp6500siv2_all=0.7256;ExAC_ALL=0.7170;ExAC_AFR=0.7926;ExAC_AMR=0.8771;ExAC_EAS=0.7785;ExAC_FIN=0.6461;ExAC_NFE=0.6823;ExAC_OTH=0.7016;ExAC_SAS=0.6970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,42:91:99:1113,0,1398 1 94344716 rs2235971 C T 3637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.686;DP=323;ExcessHet=3.0103;FS=1.327;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.476;SOR=0.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNTTIP2;Func=UTR5;Gene=NM_014597;GeneDetail=NM_014597:c.-12G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436063.6;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2235971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.325;1000g2015aug_afr=0.093;1000g2015aug_amr=0.3329;1000g2015aug_all=0.348243;esp6500siv2_all=0.2737;ExAC_ALL=0.3577;ExAC_AFR=0.1393;ExAC_AMR=0.3918;ExAC_EAS=0.5681;ExAC_FIN=0.2913;ExAC_NFE=0.3359;ExAC_OTH=0.3552;ExAC_SAS=0.4688;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:178,144:322:99:3666,0,4650 1 94471075 rs1762114 A G 3245.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=exonic;Gene=NM_000350;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ABCA4:NM_000350:exon44:c.T6069C:p.I2023I;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1762114;cosmic70=.;CLNALLELEID=139938;CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.907;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.9006;1000g2015aug_all=0.769968;esp6500siv2_all=0.7757;ExAC_ALL=0.8894;ExAC_AFR=0.4474;ExAC_AMR=0.9413;ExAC_EAS=0.8885;ExAC_FIN=0.9568;ExAC_NFE=0.9363;ExAC_OTH=0.9075;ExAC_SAS=0.9142;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,101:101:99:3274,303,0 1 94471219 rs142316952 C T 709.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.633;DP=54;ExcessHet=3.0103;FS=1.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=2.081;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142316952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,24:54:99:738,0,847 1 94474020 rs1191234 G A 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.79;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1191234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.9251;1000g2015aug_all=0.891174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 94476555 rs537831 G A 809.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.35;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs537831;cosmic70=.;CLNALLELEID=105278;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.447;1000g2015aug_amr=0.745;1000g2015aug_all=0.691494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:838,66,0 1 94480037 rs2275033 C T 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.573;DP=19;ExcessHet=3.0103;FS=5.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.267;SOR=0.092;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.4039;1000g2015aug_amr=0.2738;1000g2015aug_all=0.327077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:258,0,285 1 94480439 rs2275034 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e500\x3bName\x3e"199352:MIRc(SINE)";avsnp150=rs2275034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.4654;1000g2015aug_all=0.510383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 94486667 rs933073 T G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs933073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.044;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0946486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 94487354 rs472908 G A 487.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.148;DP=38;ExcessHet=3.0103;FS=1.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.206;SOR=1.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs472908;cosmic70=.;CLNALLELEID=105208;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.5692;1000g2015aug_all=0.588858;esp6500siv2_all=0.6302;ExAC_ALL=0.5819;ExAC_AFR=0.7514;ExAC_AMR=0.6756;ExAC_EAS=0.4556;ExAC_FIN=0.6213;ExAC_NFE=0.5585;ExAC_OTH=0.5998;ExAC_SAS=0.5569;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,17:38:99:516,0,642 1 94495407 rs4147846 C T 909.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.116;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=-0.156;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.502;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.402;1000g2015aug_all=0.407149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:938,0,1274 1 94495417 rs4147845 C T 829.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.299;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.737;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.503;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.3833;1000g2015aug_all=0.356629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:858,0,1279 1 94495487 rs4147844 G A 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.297;DP=24;ExcessHet=3.0103;FS=2.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-1.277;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.503;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.3847;1000g2015aug_all=0.359625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:284,0,403 1 94495816 rs4147843 T C 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.564;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e321\x3bName\x3e"199378:L3(LINE)";avsnp150=rs4147843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.4582;1000g2015aug_all=0.492612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:283,0,317 1 94495930 rs547806 T C 3386.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs547806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=1;1000g2015aug_all=0.988219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3415,283,0 1 94496253 rs2297671 G A 1105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.227;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.511;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.502;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3862;1000g2015aug_all=0.391174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,36:69:99:1134,0,1020 1 94497178 rs4147841 G A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.194;DP=32;ExcessHet=3.0103;FS=1.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.83;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.4424;1000g2015aug_all=0.485224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,16:32:99:375,0,390 1 94503197 rs1889548 A C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1889548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7161;1000g2015aug_all=0.644569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 94509226 rs4147839 G T 1439.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e700\x3bName\x3e"199398:L1ME4a(LINE)";avsnp150=rs4147839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.2925;1000g2015aug_all=0.42472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1468,114,0 1 94511533 rs3789398 G A 402.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.042;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.451;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.671;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.6772;1000g2015aug_all=0.504992;esp6500siv2_all=.;ExAC_ALL=0.6053;ExAC_AFR=0.5053;ExAC_AMR=0.7283;ExAC_EAS=0.3358;ExAC_FIN=.;ExAC_NFE=0.6602;ExAC_OTH=0.5847;ExAC_SAS=0.5914;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,16:45:99:431,0,894 1 94512360 rs17392369 G A 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.275;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17392369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0325479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:198,0,253 1 94521978 rs551848112 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs551848112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 94522517 rs17110958 A G 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=-0.414;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e213\x3bName\x3e"199420:MamTip2(DNA)";avsnp150=rs17110958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0393371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:173,0,101 1 94528142 rs61754024 A C 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.426;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=exonic;Gene=NM_000350;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ABCA4:NM_000350:exon13:c.T1928G:p.V643G;Gencode=Name\x3eENST00000370225.3,ENST00000536513.5;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61754024;cosmic70=.;CLNALLELEID=104991;CLNDN=Stargardt_disease_1|not_specified|not_provided;CLNDISDB=MeSH:C535804,MedGen:C1855465,OMIM:248200|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000998403;esp6500siv2_all=0.0021;ExAC_ALL=0.0013;ExAC_AFR=0.0006;ExAC_AMR=0.0006;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0022;ExAC_OTH=0.0022;ExAC_SAS=0;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=3.3;MutationAssessor_pred=M;FATHMM_score=-2.89;FATHMM_pred=D;phyloP100way_vertebrate=9.325;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=14.780;gerp++gt2=4.95;CADD=5.911;CADD_Phred=27.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:226,0,205 1 94528363 rs4147833 C T 435.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.379;DP=40;ExcessHet=3.0103;FS=1.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.176;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536513.5,ENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147833;cosmic70=.;CLNALLELEID=104968;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.177;1000g2015aug_amr=0.281;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:464,0,621 1 94544276 rs4147830 G A 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.334;DP=21;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=0.326;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"199450:(AGACAG)n(Simple_repeat)";avsnp150=rs4147830;cosmic70=.;CLNALLELEID=104927;CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.5;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4914;1000g2015aug_all=0.514776;esp6500siv2_all=0.4655;ExAC_ALL=0.4814;ExAC_AFR=0.4746;ExAC_AMR=0.5743;ExAC_EAS=0.5627;ExAC_FIN=0.4480;ExAC_NFE=0.4615;ExAC_OTH=0.5099;ExAC_SAS=0.4706;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:154,0,366 1 94545160 rs2275035 C T 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.715;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-1.592;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5417;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.3228;1000g2015aug_all=0.35603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,17:26:99:461,0,264 1 94549083 rs574741 T C 264.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.302;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.152;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs574741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7939;1000g2015aug_all=0.745407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:293,0,229 1 94558774 rs538880 C G 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs538880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.643;1000g2015aug_amr=0.7853;1000g2015aug_all=0.733427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 94568491 rs4847278 A G 649.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.132;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=0.034;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4847278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.2882;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,24:36:99:678,0,279 1 94568822 rs2297636 T C 621.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.483;DP=63;ExcessHet=3.0103;FS=2.373;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.822;SOR=1.062;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.2824;1000g2015aug_all=0.341254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,25:63:99:650,0,953 1 94578548 rs4847281 T C 488.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=exonic;Gene=NM_000350;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ABCA4:NM_000350:exon2:c.A141G:p.P47P;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4847281;cosmic70=.;CLNALLELEID=177452;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.9957;1000g2015aug_all=0.987021;esp6500siv2_all=0.9877;ExAC_ALL=0.9964;ExAC_AFR=0.9603;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 94583296 rs4847282 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCA4;Func=intronic;Gene=NM_000350;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370225.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4847282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9667;1000g2015aug_amr=1;1000g2015aug_all=0.991214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 94639337 rs1330858 A G 726.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.85;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=UTR3;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=NM_001328664:c.*88T>C\x3bNM_001328665:c.*88T>C\x3bNM_001328666:c.*88T>C\x3bNM_001328667:c.*88T>C\x3bNM_004815:c.*88T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260526.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1330858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.9928;1000g2015aug_all=0.972045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:755,57,0 1 94639447 rs1999272 C T 3205.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=exonic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D;Gencode=Name\x3eENST00000260526.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1999272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.798;1000g2015aug_amr=0.9827;1000g2015aug_all=0.94389;esp6500siv2_all=0.9442;ExAC_ALL=0.9849;ExAC_AFR=0.8344;ExAC_AMR=0.9941;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9978;ExAC_SAS=0.9998;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.33;MutationAssessor_pred=N;FATHMM_score=2.18;FATHMM_pred=T;phyloP100way_vertebrate=1.983;phyloP20way_mammalian=0.119;SiPhy_29way_logOdds=7.524;gerp++gt2=4.69;CADD=1.555;CADD_Phred=13.60;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:3234,270,0 1 94643531 rs1048854 T C 3783.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.247;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=exonic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGAP29:NM_001328665:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328667:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328664:exon21:c.A2673G:p.Q891Q,ARHGAP29:NM_001328666:exon21:c.A2646G:p.Q882Q,ARHGAP29:NM_004815:exon21:c.A2673G:p.Q891Q;Gencode=Name\x3eENST00000260526.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.2147;1000g2015aug_all=0.136182;esp6500siv2_all=0.1983;ExAC_ALL=0.2181;ExAC_AFR=0.0639;ExAC_AMR=0.2214;ExAC_EAS=0.0027;ExAC_FIN=0.2470;ExAC_NFE=0.2731;ExAC_OTH=0.2269;ExAC_SAS=0.1916;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:3812,357,0 1 94649673 rs368445017 T C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.515;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.241;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=intronic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260526.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs368445017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=7.7e-05;ExAC_ALL=8.288e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,121 1 94654225 rs1411703 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=intronic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260526.10;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e615\x3bName\x3e"199637:L1ME3D(LINE)";avsnp150=rs1411703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.9899;1000g2015aug_all=0.964856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 94668046 rs1541099 C T 2960.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=intronic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260526.10,ENST00000370217.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1541099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.9798;1000g2015aug_all=0.931709;esp6500siv2_all=.;ExAC_ALL=0.9834;ExAC_AFR=0.8033;ExAC_AMR=0.9939;ExAC_EAS=0.9998;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9977;ExAC_SAS=0.9976;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2989,269,0 1 94674723 rs6684237 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP29;Func=intronic;Gene=NM_001328664,NM_001328665,NM_001328666,NM_001328667,NM_004815;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260526.10,ENST00000370217.3;cytoBand=1p22.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.9928;1000g2015aug_all=0.972045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 94884006 rs372971488 C G 735.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.759;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-1.74;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCD3;Func=UTR5;Gene=NM_001122674,NM_002858;GeneDetail=NM_001122674:c.-29C>G\x3bNM_002858:c.-29C>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"200056:(GCC)n(Simple_repeat)";avsnp150=rs372971488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000798722;esp6500siv2_all=0.0021;ExAC_ALL=0.0051;ExAC_AFR=0.0004;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0.0026;ExAC_NFE=0.0081;ExAC_OTH=0.0031;ExAC_SAS=0.0022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,29:57:99:764,0,779 1 94924046 rs2147794 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCD3;Func=intronic;Gene=NM_001122674,NM_002858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000315713.5,ENST00000370214.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2147794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.504;1000g2015aug_afr=0.0802;1000g2015aug_amr=0.3919;1000g2015aug_all=0.275759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 94930345 rs16946 G A 2099.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCD3;Func=exonic;Gene=NM_001122674,NM_002858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ABCD3:NM_001122674:exon3:c.G162A:p.K54K,ABCD3:NM_002858:exon3:c.G162A:p.K54K;Gencode=Name\x3eENST00000315713.5,ENST00000370214.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16946;cosmic70=.;CLNALLELEID=250040;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.502;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.3919;1000g2015aug_all=0.279952;esp6500siv2_all=0.3722;ExAC_ALL=0.3923;ExAC_AFR=0.1476;ExAC_AMR=0.3755;ExAC_EAS=0.2093;ExAC_FIN=0.3603;ExAC_NFE=0.4691;ExAC_OTH=0.4075;ExAC_SAS=0.3562;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2128,204,0 1 94941376 rs681187 G A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCD3;Func=intronic;Gene=NM_001122674,NM_002858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370214.8,ENST00000315713.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs681187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.505;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.8516;1000g2015aug_all=0.669529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 94980671 rs3118109 C G 336.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABCD3;Func=intronic;Gene=NM_002858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370214.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3118109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9942;1000g2015aug_all=0.983626;esp6500siv2_all=0.9845;ExAC_ALL=0.9957;ExAC_AFR=0.9525;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:365,36,0 1 95001990 rs3917615 C T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF3;Func=intronic;Gene=NM_001178096,NM_001993;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334047.11,ENST00000370207.4;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e441\x3bName\x3e"200281:MIR(SINE)";avsnp150=rs3917615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.3718;1000g2015aug_all=0.300919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 95149700 rs841358 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432162.5,ENST00000418366.2,ENST00000442418.5,ENST00000452922.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs841358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9365;1000g2015aug_sas=0.953;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.9265;1000g2015aug_all=0.941893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 95174544 rs1245478 G A 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432162.5,ENST00000418366.2,ENST00000442418.5,ENST00000452922.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"200569:(GGAG)n(Simple_repeat)";avsnp150=rs1245478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.2594;1000g2015aug_all=0.324081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 95174606 rs1245477 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.431;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418366.2,ENST00000442418.5,ENST00000452922.5,ENST00000432162.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1245477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.3991;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:31:81,0,31 1 95174667 rs1245476 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452922.5,ENST00000418366.2,ENST00000442418.5,ENST00000432162.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e481\x3bName\x3e"200570:Arthur1A(DNA)";avsnp150=rs1245476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9788;1000g2015aug_amr=1;1000g2015aug_all=0.994409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 95185592 rs2802100 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442418.5,ENST00000418366.2,ENST00000452922.5,ENST00000432162.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.4063;1000g2015aug_all=0.462859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 95211525 rs1333953 G A 2335.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01057;Func=ncRNA_intronic;Gene=NR_104131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442418.5,ENST00000418366.2,ENST00000452922.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1333953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.6556;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2364,198,0 1 95286085 rs11165252 G A 1571.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000527077.5,ENST00000271227.10,ENST00000529450.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11165252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.389;1000g2015aug_all=0.411142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1600,108,0 1 95286094 rs10782992 G T 1571.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000527077.5,ENST00000529450.5,ENST00000271227.10;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10782992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.9827;1000g2015aug_all=0.954673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1600,108,0 1 95287052 rs12027226 C A 47.52 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000527077.5,ENST00000532427.5,ENST00000529450.5,ENST00000271227.10,ENST00000467909.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12027226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.3026;1000g2015aug_amr=0.3703;1000g2015aug_all=0.371206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 95290305 rs6541372 T C 647.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000532427.5,ENST00000527077.5,ENST00000446120.6,ENST00000467909.5,ENST00000271227.10,ENST00000529450.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9908;1000g2015aug_eur=1;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9827;1000g2015aug_all=0.951877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:676,48,0 1 95290315 rs36094793 A G 556.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527077.5,ENST00000532427.5,ENST00000446120.6,ENST00000271227.10,ENST00000529450.5,ENST00000467909.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e758\x3bName\x3e"200801:MIRb(SINE)";avsnp150=rs36094793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.3833;1000g2015aug_all=0.383786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:585,39,0 1 95291366 rs10874894 A G 3272.77 PASS AC=2;AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.064;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529450.5,ENST00000271227.10,ENST00000467909.5,ENST00000446120.6,ENST00000527077.5,ENST00000532427.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9908;1000g2015aug_eur=1;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.9827;1000g2015aug_all=0.949481;esp6500siv2_all=.;ExAC_ALL=0.9937;ExAC_AFR=0.8842;ExAC_AMR=0.9891;ExAC_EAS=0.9848;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=1;ExAC_SAS=0.9944;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,105:105:99:3301,315,0 1 95292491 rs12048606 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000532427.5,ENST00000527077.5,ENST00000467909.5,ENST00000529450.5,ENST00000271227.10;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12048606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.3876;1000g2015aug_all=0.38738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 95305224 rs10782994 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422162.5,ENST00000467909.5,ENST00000529450.5,ENST00000271227.10,ENST00000446120.6,ENST00000527077.5,ENST00000532427.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2411\x3bName\x3e"200830:AluSz6(SINE)";avsnp150=rs10782994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.5113;1000g2015aug_amr=0.5159;1000g2015aug_all=0.565296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 95305440 rs859120 A G 662.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000527077.5,ENST00000532427.5,ENST00000422162.5,ENST00000467909.5,ENST00000529450.5,ENST00000271227.10;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.5187;1000g2015aug_all=0.566693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:691,63,0 1 95307842 rs698967 T C 398.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467909.5,ENST00000529450.5,ENST00000271227.10,ENST00000422162.5,ENST00000527077.5,ENST00000532427.5,ENST00000446120.6;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs698967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.513;1000g2015aug_all=0.564696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:427,33,0 1 95330372 rs859098 G A 1122.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=exonic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I;Gencode=Name\x3eENST00000467909.5,ENST00000271227.10,ENST00000529450.5,ENST00000446120.6,ENST00000527077.5,ENST00000532427.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.8141;1000g2015aug_all=0.754593;esp6500siv2_all=0.6797;ExAC_ALL=0.7701;ExAC_AFR=0.5396;ExAC_AMR=0.8824;ExAC_EAS=0.9812;ExAC_FIN=0.8011;ExAC_NFE=0.7562;ExAC_OTH=0.7544;ExAC_SAS=0.7709;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.312;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.056;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=2.26;FATHMM_pred=T;phyloP100way_vertebrate=4.195;phyloP20way_mammalian=0.135;SiPhy_29way_logOdds=13.912;gerp++gt2=5.63;CADD=1.894;CADD_Phred=15.55;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1151,101,0 1 95333068 rs859096 G T 129.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.31;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=2.186;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467909.5,ENST00000271227.10,ENST00000529450.5,ENST00000527077.5,ENST00000532427.5,ENST00000446120.6;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1348\x3bName\x3e"200873:MER58B(DNA)";avsnp150=rs859096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.3396;1000g2015aug_amr=0.6441;1000g2015aug_all=0.613019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,7:22:99:158,0,484 1 95333195 rs859095 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000532427.5,ENST00000527077.5,ENST00000467909.5,ENST00000529450.5,ENST00000271227.10;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1348\x3bName\x3e"200873:MER58B(DNA)";avsnp150=rs859095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9901;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.9813;1000g2015aug_all=0.979832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 95358096 rs859063 A G 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.287;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.374;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC44A3;Func=intronic;Gene=NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_001350223,NM_152369;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446120.6,ENST00000527077.5,ENST00000532427.5,ENST00000467909.5,ENST00000271227.10,ENST00000529450.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.5144;1000g2015aug_all=0.452676;esp6500siv2_all=0.5221;ExAC_ALL=0.5409;ExAC_AFR=0.3633;ExAC_AMR=0.4720;ExAC_EAS=0.4464;ExAC_FIN=0.6375;ExAC_NFE=0.6002;ExAC_OTH=0.5804;ExAC_SAS=0.4699;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:294,0,252 1 95367649 rs859058 T C 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.549;DP=54;ExcessHet=3.0103;FS=3.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.49;SOR=1.298;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNN3;Func=intronic;Gene=NM_001286055,NM_001286056,NM_001839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394202.8,ENST00000370206.8,ENST00000545882.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.513;1000g2015aug_all=0.441094;esp6500siv2_all=0.5101;ExAC_ALL=0.5402;ExAC_AFR=0.3239;ExAC_AMR=0.4696;ExAC_EAS=0.4573;ExAC_FIN=0.6514;ExAC_NFE=0.6028;ExAC_OTH=0.5815;ExAC_SAS=0.4693;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,22:53:99:557,0,717 1 95367894 rs859057 A C 230.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNN3;Func=intronic;Gene=NM_001286055,NM_001286056,NM_001839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370206.8,ENST00000545882.5,ENST00000394202.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.683;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.7075;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:259,21,0 1 95368458 rs859055 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.2;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNN3;Func=intronic;Gene=NM_001286055,NM_001286056,NM_001839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394202.8,ENST00000370206.8,ENST00000545882.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4206;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.513;1000g2015aug_all=0.441294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 95369211 rs859054 T G 862.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.08;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNN3;Func=intronic;Gene=NM_001286055,NM_001286056,NM_001839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000394202.8,ENST00000545882.5,ENST00000370206.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.8761;1000g2015aug_all=0.851837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:891,69,0 1 95392588 rs115445502 C T 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.391;DP=24;ExcessHet=3.0103;FS=6.52;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.087;SOR=2.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNN3;Func=UTR5;Gene=NM_001286055,NM_001839;GeneDetail=NM_001286055:c.-138G>A\x3bNM_001839:c.-138G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370206.8,ENST00000394202.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"200965:(GGCGCG)n(Simple_repeat)";avsnp150=rs115445502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0876597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:385,0,437 1 95557220 rs6690421 C T 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.036;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001199679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9738\x3bName\x3e"201329:LTR12C(LTR)";avsnp150=rs6690421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.498;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.5908;1000g2015aug_all=0.470647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 95583090 rs6665493 G C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56;Func=UTR5;Gene=NM_152487;GeneDetail=NM_152487:c.-26368G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370203.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9914;1000g2015aug_all=0.985623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 95614677 rs6695720 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56-RWDD3,TMEM56;Func=intronic;Gene=NM_001199679,NM_001199691,NM_152487;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604534.5,ENST00000370203.8;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9957;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 95696612 rs6663164 C T 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.808;DP=33;ExcessHet=3.0103;FS=1.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.075;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928118,TMEM56-RWDD3;Func=ncRNA_intronic;Gene=NR_125948,NR_125949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604534.5,ENST00000421762.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.3707;1000g2015aug_amr=0.2767;1000g2015aug_all=0.339058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:417,0,599 1 95699594 rs3738171 A G 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56-RWDD3;Func=intronic;Gene=NM_001199691;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604534.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"201602:(GCCCC)n(Simple_repeat)";avsnp150=rs3738171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.8573;1000g2015aug_all=0.850839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 95699604 rs3738170 G C 322.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.99;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56-RWDD3;Func=intronic;Gene=NM_001199691;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000604534.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"201602:(GCCCC)n(Simple_repeat)";avsnp150=rs3738170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.649;1000g2015aug_amr=0.8401;1000g2015aug_all=0.807708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:351,24,0 1 95705615 rs640527 G A 645.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRWDD3,TMEM56-RWDD3;Func=intronic;Gene=NM_001128142,NM_001199682,NM_001199691,NM_001278247,NM_001278248,NM_015485;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370202.4,ENST00000263893.10,ENST00000604534.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e993\x3bName\x3e"201615:MLT1D(LTR)";avsnp150=rs640527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.8245;1000g2015aug_amr=0.9481;1000g2015aug_all=0.927316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:674,57,0 1 95709821 rs259358 T C 2847.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=0.917;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56-RWDD3,RWDD3;Func=exonic;Gene=NM_001128142,NM_001199682,NM_001278247,NM_001278248,NM_015485;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A;Gencode=Name\x3eENST00000263893.10,ENST00000604534.5,ENST00000370202.4,ENST00000444665.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs259358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9957;1000g2015aug_all=0.984625;esp6500siv2_all=0.9860;ExAC_ALL=0.9955;ExAC_AFR=0.9508;ExAC_AMR=0.9980;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9978;ExAC_SAS=0.9998;SIFT_score=0.452;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.507;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.22;MutationAssessor_pred=N;FATHMM_score=2.03;FATHMM_pred=T;phyloP100way_vertebrate=-0.491;phyloP20way_mammalian=-1.934;SiPhy_29way_logOdds=7.487;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2876,260,0 1 95709939 rs2296308 T G 2999.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM56-RWDD3,RWDD3;Func=exonic;Gene=NM_001128142,NM_001199682,NM_001278247,NM_001278248,NM_015485;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K;Gencode=Name\x3eENST00000444665.5,ENST00000370202.4,ENST00000263893.10,ENST00000604534.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296308;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.8487;1000g2015aug_all=0.817292;esp6500siv2_all=0.8201;ExAC_ALL=0.8548;ExAC_AFR=0.7089;ExAC_AMR=0.8351;ExAC_EAS=0.7729;ExAC_FIN=0.8792;ExAC_NFE=0.8646;ExAC_OTH=0.8956;ExAC_SAS=0.9466;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.615;MutationAssessor_pred=N;FATHMM_score=2.14;FATHMM_pred=T;phyloP100way_vertebrate=-0.117;phyloP20way_mammalian=-1.394;SiPhy_29way_logOdds=9.064;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:3028,269,0 1 95826036 rs12756483 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146486,NR_033966;GeneDetail=dist\x3e8373\x3bdist\x3e114257;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427695.3;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"201834:L2c(LINE)";avsnp150=rs12756483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.3905;1000g2015aug_all=0.34385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 95826041 rs12736643 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146486,NR_033966;GeneDetail=dist\x3e8378\x3bdist\x3e114252;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427695.3;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"201834:L2c(LINE)";avsnp150=rs12736643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.3905;1000g2015aug_all=0.34385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 95966750 rs145065743 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033966,NR_110621;GeneDetail=dist\x3e21838\x3bdist\x3e8922;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs145065743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 95966758 rs4950060 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033966,NR_110621;GeneDetail=dist\x3e21846\x3bdist\x3e8914;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.774;1000g2015aug_eur=0.826;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.8818;1000g2015aug_all=0.721446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 96135281 rs7517709 G C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110621,NR_125991;GeneDetail=dist\x3e154261\x3bdist\x3e322343;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456933.1;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9997\x3bName\x3e"202335:LTR12C(LTR)";avsnp150=rs7517709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.5818;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.239;1000g2015aug_amr=0.3991;1000g2015aug_all=0.419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 96135376 rs11165464 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110621,NR_125991;GeneDetail=dist\x3e154356\x3bdist\x3e322248;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456933.1;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9997\x3bName\x3e"202335:LTR12C(LTR)";avsnp150=rs11165464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.3876;1000g2015aug_all=0.370407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 96449880 rs1458631 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110621,NR_125991;GeneDetail=dist\x3e468860\x3bdist\x3e7744;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1458631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.553;1000g2015aug_amr=0.4481;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 96488081 rs161129 T C 668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.4;DP=47;ExcessHet=3.0103;FS=1.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=2.44;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102723661;Func=ncRNA_intronic;Gene=NR_125991;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451675.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs161129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.1844;1000g2015aug_all=0.236422;esp6500siv2_all=.;ExAC_ALL=0.375;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=0.375;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,26:47:99:697,0,566 1 96488174 rs161128 A G 1182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.559;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.529;SOR=0.677;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102723661;Func=ncRNA_exonic;Gene=NR_125991;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451675.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs161128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.7493;1000g2015aug_all=0.609225;esp6500siv2_all=.;ExAC_ALL=0.8333;ExAC_AFR=1;ExAC_AMR=.;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=0.75;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,49:80:99:1211,0,714 1 96488261 rs1146527 A T 1229.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102723661;Func=ncRNA_exonic;Gene=NR_125991;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451675.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.9409;1000g2015aug_all=0.868011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1258,119,0 1 96488272 rs15686 C A 267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.23;DP=35;ExcessHet=3.0103;FS=3.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.213;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102723661;Func=ncRNA_exonic;Gene=NR_125991;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451675.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.1686;1000g2015aug_all=0.164537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,11:35:99:296,0,692 1 96824391 rs326659 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928241;Func=ncRNA_intronic;Gene=NR_110693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435311.1;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2236\x3bName\x3e"203426:AluSx(SINE)";avsnp150=rs326659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.444;1000g2015aug_amr=0.4467;1000g2015aug_all=0.42512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 96912659 rs10783045 A G 253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.201;DP=20;ExcessHet=3.0103;FS=2.473;MLEAC=1;MLEAF=0.5;MQ=50.35;MQRankSum=-2.235;QD=12.69;ReadPosRankSum=0.76;SOR=0.211;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110693,NM_001300987;GeneDetail=dist\x3e72978\x3bdist\x3e274502;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=Score\x3e0.97037\x3bName\x3echr9:133019421;Repeat=.;avsnp150=rs10783045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.1527;1000g2015aug_all=0.176318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:282,0,353 1 96913765 rs4000303 A G 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.22;QD=35.72;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110693,NM_001300987;GeneDetail=dist\x3e74084\x3bdist\x3e273396;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=Score\x3e0.97037\x3bName\x3echr9:133019421;Repeat=.;avsnp150=rs4000303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.505;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.5879;1000g2015aug_all=0.472045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 97187083 rs3748785 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.819;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.5331;1000g2015aug_all=0.737819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 97187174 rs3748784 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTBP2;Func=UTR5;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=NM_001300985:c.-247A>G\x3bNM_001300986:c.-247A>G\x3bNM_001300987:c.-27997A>G\x3bNM_001300988:c.-247A>G\x3bNM_001300989:c.-247A>G\x3bNM_001300990:c.-48126A>G\x3bNM_021190:c.-247A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748784;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.6581;1000g2015aug_amr=0.4582;1000g2015aug_all=0.595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 97189091 rs3762411 G A 487.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.715;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=-0.437;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTBP2;Func=intronic;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609116.5,ENST00000370198.5,ENST00000370197.5,ENST00000426398.2;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.549;1000g2015aug_all=0.631789;esp6500siv2_all=0.5924;ExAC_ALL=0.5503;ExAC_AFR=0.7171;ExAC_AMR=0.5162;ExAC_EAS=0.6471;ExAC_FIN=0.4545;ExAC_NFE=0.5168;ExAC_OTH=0.5187;ExAC_SAS=0.5944;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,28:89:99:516,0,1576 1 97236130 rs3762409 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTBP2;Func=intronic;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370198.5,ENST00000609116.5,ENST00000426398.2,ENST00000370197.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.549;1000g2015aug_all=0.63119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 97272456 rs6699932 A G 592.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.434;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.973;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTBP2;Func=exonic;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L;Gencode=Name\x3eENST00000609116.5,ENST00000370198.5,ENST00000370197.5,ENST00000426398.2;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2103;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.1499;1000g2015aug_all=0.277955;esp6500siv2_all=0.2920;ExAC_ALL=0.2123;ExAC_AFR=0.5025;ExAC_AMR=0.1368;ExAC_EAS=0.2116;ExAC_FIN=0.1947;ExAC_NFE=0.1949;ExAC_OTH=0.2026;ExAC_SAS=0.1610;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,24:59:99:621,0,876 1 97278804 rs273886 G A 492.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=32;ExcessHet=3.0103;FS=1.428;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-2.211;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTBP2;Func=intronic;Gene=NM_001300985,NM_001300986,NM_001300987,NM_001300988,NM_001300989,NM_001300990,NM_021190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426398.2,ENST00000370197.5,ENST00000609116.5,ENST00000370198.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs273886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.549;1000g2015aug_all=0.63099;esp6500siv2_all=0.5907;ExAC_ALL=0.5499;ExAC_AFR=0.7166;ExAC_AMR=0.5161;ExAC_EAS=0.6466;ExAC_FIN=0.4542;ExAC_NFE=0.5164;ExAC_OTH=0.5192;ExAC_SAS=0.6002;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:521,0,450 1 97544760 rs17116357 C G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.464;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17116357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.168;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.1153;1000g2015aug_all=0.106629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 97544771 rs290855 T C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs290855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.826;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.8545;1000g2015aug_all=0.835863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 97547831 rs290854 G A 244.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.2;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs290854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:273,27,0 1 97700589 rs12137711 C T 735.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD-AS1,DPYD;Func=ncRNA_intronic;Gene=NR_046590;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422980.1,ENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12137711;cosmic70=.;CLNALLELEID=105953;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0880591;esp6500siv2_all=0.0875;ExAC_ALL=0.1176;ExAC_AFR=0.0251;ExAC_AMR=0.0726;ExAC_EAS=0.0381;ExAC_FIN=0.1848;ExAC_NFE=0.1163;ExAC_OTH=0.16;ExAC_SAS=0.2252;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:764,72,0 1 97731961 rs78970785 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD,DPYD-AS1;Func=ncRNA_intronic;Gene=NR_046590;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422980.1,ENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78970785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.3228;1000g2015aug_all=0.151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 97771947 rs7556439 C A 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.419;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.09;ReadPosRankSum=-0.674;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD,DPYD-AS1;Func=ncRNA_intronic;Gene=NR_046590;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422980.1,ENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.034;1000g2015aug_amr=0.3963;1000g2015aug_all=0.254393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,13:20:99:430,0,198 1 97839016 rs1890138 A G 945.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.692;DP=63;ExcessHet=3.0103;FS=1.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.556;SOR=0.476;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1890138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.2507;1000g2015aug_all=0.318291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,36:63:99:974,0,719 1 97848140 rs56279424 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56279424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.411;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.1383;1000g2015aug_all=0.225839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,95 1 97867143 rs12045421 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424982.1,ENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2299\x3bName\x3e"205131:AluSx1(SINE)";avsnp150=rs12045421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.1604;1000g2015aug_amr=0.1369;1000g2015aug_all=0.224241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 97981242 rs2811178 T C 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.207;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.307;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2811178;cosmic70=.;CLNALLELEID=105967;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.6801;1000g2015aug_all=0.651757;esp6500siv2_all=0.5990;ExAC_ALL=0.6609;ExAC_AFR=0.6692;ExAC_AMR=0.7256;ExAC_EAS=0.7674;ExAC_FIN=0.7199;ExAC_NFE=0.6312;ExAC_OTH=0.6870;ExAC_SAS=0.6469;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,215 1 97981706 rs1337752 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1337752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7312;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.6816;1000g2015aug_all=0.64976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 97992929 rs2786769 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2454\x3bName\x3e"205349:AluY(SINE)";avsnp150=rs2786769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.5605;1000g2015aug_amr=0.5965;1000g2015aug_all=0.547125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 98293449 rs77157605 T G 85.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.368;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110,NM_001160301;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306031.5,ENST00000370192.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77157605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:114,0,105 1 98325796 rs10747490 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPYD;Func=intronic;Gene=NM_000110,NM_001160301;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370192.7,ENST00000306031.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1478\x3bName\x3e"205876:AluJo(SINE)";avsnp150=rs10747490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.559;1000g2015aug_amr=0.7752;1000g2015aug_all=0.740016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 99127205 rs12723363 A G 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12723363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8948;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.9751;1000g2015aug_afr=0.6346;1000g2015aug_amr=0.9683;1000g2015aug_all=0.865216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 99127392 rs9728148 T C 312.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX7;Func=exonic;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SNX7:NM_015976:exon1:c.T105C:p.S35S,SNX7:NM_152238:exon1:c.T105C:p.S35S;Gencode=Name\x3eENST00000529992.5,ENST00000306121.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9728148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.9971;1000g2015aug_all=0.995407;esp6500siv2_all=.;ExAC_ALL=0.9979;ExAC_AFR=0.9900;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:341,27,0 1 99144463 rs9793966 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX7;Func=intronic;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306121.7,ENST00000529992.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9793966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.9568;1000g2015aug_all=0.859026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 99144486 rs9793967 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX7;Func=intronic;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306121.7,ENST00000529992.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"207266:(GAAT)n(Simple_repeat)";avsnp150=rs9793967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.3415;1000g2015aug_all=0.28734;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 99156904 rs183435886 T A 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX7;Func=intronic;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000306121.7,ENST00000529992.5;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183435886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.1037;1000g2015aug_all=0.110224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 99225627 rs2019213 G A 678.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX7;Func=exonic;Gene=NM_015976,NM_152238;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E;Gencode=Name\x3eENST00000529992.5,ENST00000306121.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2019213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9871;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.9078;1000g2015aug_all=0.875399;esp6500siv2_all=0.9578;ExAC_ALL=0.9378;ExAC_AFR=0.8923;ExAC_AMR=0.8424;ExAC_EAS=0.6455;ExAC_FIN=0.9741;ExAC_NFE=0.9865;ExAC_OTH=0.9514;ExAC_SAS=0.9723;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:707,69,0 1 99358358 rs984271 G T 48.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR5;Func=UTR3;Gene=NM_001010861,NM_001037317;GeneDetail=NM_001010861:c.*270C>A\x3bNM_001037317:c.*270C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370188.7,ENST00000263177.4;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e608\x3bName\x3e"207612:L2b(LINE)";avsnp150=rs984271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.3722;1000g2015aug_amr=0.5965;1000g2015aug_all=0.567093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:76,6,0 1 99421998 rs1329466 C G 106.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR5;Func=intronic;Gene=NM_001010861,NM_001037317;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263177.4,ENST00000370188.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e757\x3bName\x3e"207724:L1PB1(LINE)";avsnp150=rs1329466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.2651;1000g2015aug_all=0.333466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:135,0,65 1 99470117 rs144194271 G T 1392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.941;DP=119;ExcessHet=3.0103;FS=2.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.57;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR5,LOC100129620;Func=exonic;Gene=NM_001010861,NM_001037317;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLPPR5:NM_001010861:exon1:c.C111A:p.T37T,PLPPR5:NM_001037317:exon1:c.C111A:p.T37T;Gencode=Name\x3eENST00000425113.1,ENST00000370188.7,ENST00000263177.4;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144194271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00479233;esp6500siv2_all=0.0097;ExAC_ALL=0.0120;ExAC_AFR=0.0015;ExAC_AMR=0.0049;ExAC_EAS=0;ExAC_FIN=0.0262;ExAC_NFE=0.0157;ExAC_OTH=0.0148;ExAC_SAS=0.0089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,54:119:99:1421,0,1866 1 99470269 rs12057990 T C 561.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=60;ExcessHet=3.0103;FS=1.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.13;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR5,LOC100129620;Func=ncRNA_intronic;Gene=NR_033940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370188.7,ENST00000425113.1,ENST00000263177.4;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12057990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.2088;1000g2015aug_amr=0.2032;1000g2015aug_all=0.255591;esp6500siv2_all=0.1488;ExAC_ALL=0.2653;ExAC_AFR=0.2340;ExAC_AMR=0.2036;ExAC_EAS=0.4103;ExAC_FIN=0.2742;ExAC_NFE=0.2713;ExAC_OTH=0.2912;ExAC_SAS=0.2024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,22:60:99:590,0,1168 1 99753631 rs35121076 G A 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.822;DP=73;ExcessHet=3.0103;FS=3.118;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.028;SOR=0.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR4;Func=exonic;Gene=NM_001166252,NM_014839;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLPPR4:NM_001166252:exon2:c.G333A:p.P111P,PLPPR4:NM_014839:exon2:c.G333A:p.P111P;Gencode=Name\x3eENST00000457765.5,ENST00000370185.7;cytoBand=1p21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35121076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0348;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0750799;esp6500siv2_all=0.0382;ExAC_ALL=0.0538;ExAC_AFR=0.0515;ExAC_AMR=0.0716;ExAC_EAS=0.1332;ExAC_FIN=0.0277;ExAC_NFE=0.0312;ExAC_OTH=0.0551;ExAC_SAS=0.1032;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,32:73:99:856,0,1119 1 99766253 rs819915 C G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLPPR4;Func=intronic;Gene=NM_001166252,NM_014839;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370184.1,ENST00000457765.5,ENST00000370185.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs819915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.612;1000g2015aug_amr=0.5231;1000g2015aug_all=0.534944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 99964023 rs1361379 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125951,NR_031666;GeneDetail=dist\x3e10663\x3bdist\x3e18517;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438829.2;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1361379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.9914;1000g2015aug_all=0.970647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 100101987 rs834965 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548N;Func=ncRNA_intronic;Gene=NR_031666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"208860:GA-rich(Low_complexity)";avsnp150=rs834965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.6095;1000g2015aug_all=0.685304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 100111956 rs834997 A G 607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.538;DP=53;ExcessHet=3.0103;FS=2.38;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.267;SOR=0.373;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePALMD,MIR548N;Func=ncRNA_intronic;Gene=NR_031666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263174.8,ENST00000615664.1,ENST00000605497.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs834997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.327;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.1643;1000g2015aug_all=0.257588;esp6500siv2_all=0.3349;ExAC_ALL=0.2672;ExAC_AFR=0.3907;ExAC_AMR=0.1209;ExAC_EAS=0.0108;ExAC_FIN=0.3164;ExAC_NFE=0.3022;ExAC_OTH=0.2676;ExAC_SAS=0.2637;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:636,0,579 1 100181472 rs2039725 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2039725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.3084;1000g2015aug_all=0.527955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 100182884 rs6696586 C T 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.198;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.864;SOR=0.175;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.3501;1000g2015aug_all=0.407548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:215,0,250 1 100185282 rs6679013 G T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=2.189;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.3487;1000g2015aug_all=0.403554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 100194305 rs7522921 C G 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.766;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-1.373;SOR=0.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.4957;1000g2015aug_all=0.57528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:99:312,0,122 1 100194962 rs7547543 G A 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.4971;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 100195014 rs4548464 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4548464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.4971;1000g2015aug_all=0.576278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 1 100195017 rs1361229 C G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1361229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.4971;1000g2015aug_all=0.576278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 1 100195477 rs12145556 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.4971;1000g2015aug_all=0.574281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 100203571 rs7548709 A G 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.389;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.755;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2332\x3bName\x3e"209042:AluSg4(SINE)";avsnp150=rs7548709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,292 1 100203597 rs7513916 G A 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.142;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.187;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558307;esp6500siv2_all=0.5070;ExAC_ALL=0.4185;ExAC_AFR=0.8587;ExAC_AMR=0.5228;ExAC_EAS=0.3895;ExAC_FIN=0.2679;ExAC_NFE=0.3281;ExAC_OTH=0.4157;ExAC_SAS=0.5303;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:196,0,439 1 100203648 rs7537296 C T 324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.198;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=exonic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FRRS1:NM_001013660:exon7:c.G753A:p.Q251Q;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7537296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558307;esp6500siv2_all=0.5071;ExAC_ALL=0.4233;ExAC_AFR=0.8585;ExAC_AMR=0.5231;ExAC_EAS=0.3900;ExAC_FIN=0.2680;ExAC_NFE=0.3299;ExAC_OTH=0.4222;ExAC_SAS=0.5372;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:353,0,504 1 100203693 rs7514021 G A 491.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.422;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.34;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=exonic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FRRS1:NM_001013660:exon7:c.C708T:p.S236S;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558307;esp6500siv2_all=0.5071;ExAC_ALL=0.4219;ExAC_AFR=0.8587;ExAC_AMR=0.5230;ExAC_EAS=0.3905;ExAC_FIN=0.2679;ExAC_NFE=0.3292;ExAC_OTH=0.4240;ExAC_SAS=0.5283;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,22:42:99:520,0,476 1 100203999 rs6658800 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 100213115 rs6577132 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.385;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6577132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4942;1000g2015aug_all=0.558706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:75:75,0,108 1 100213151 rs6577133 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6577133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4942;1000g2015aug_all=0.558706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:71,0,59 1 100214391 rs1416237 T A 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.547;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFRRS1;Func=intronic;Gene=NM_001013660;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287474.9;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1416237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.4942;1000g2015aug_all=0.558706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,256 1 100268991 rs6689305 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013660,NM_000642;GeneDetail=dist\x3e37642\x3bdist\x3e46649;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1172\x3bName\x3e"209206:L2c(LINE)";avsnp150=rs6689305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eWhite_matter_integrity_(interaction);1000g2015aug_eas=0.7103;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.621;1000g2015aug_amr=0.7017;1000g2015aug_all=0.709065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 100316589 rs2307130 A G 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.291;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.189;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGL;Func=splicing;Gene=NM_000644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294724.8,ENST00000361915.7,ENST00000370165.7,ENST00000370163.7,ENST00000361302.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2307130;cosmic70=.;CLNALLELEID=192257;CLNDN=Glycogen_storage_disease_type_III|not_specified;CLNDISDB=MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED_CT:66937008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.544;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.4726;1000g2015aug_all=0.427117;esp6500siv2_all=0.4157;ExAC_ALL=0.4687;ExAC_AFR=0.2631;ExAC_AMR=0.4420;ExAC_EAS=0.5336;ExAC_FIN=0.4371;ExAC_NFE=0.4829;ExAC_OTH=0.4637;ExAC_SAS=0.5363;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:273,0,345 1 100316765 rs663848 C T 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.156;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.375;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGL;Func=intronic;Gene=NM_000028,NM_000642,NM_000643,NM_000644,NM_000646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361915.7,ENST00000370165.7,ENST00000370163.7,ENST00000294724.8,ENST00000361302.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs663848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.675;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.7032;1000g2015aug_all=0.76258;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:244,0,202 1 100329889 rs535461 G C 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.033;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=1.554;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGL;Func=intronic;Gene=NM_000028,NM_000642,NM_000643,NM_000644,NM_000646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361522.4,ENST00000361302.7,ENST00000370165.7,ENST00000370163.7,ENST00000361915.7,ENST00000294724.8,ENST00000370161.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs535461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.6844;1000g2015aug_all=0.739617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:391,0,266 1 100330237 rs538389 A G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGL;Func=intronic;Gene=NM_000028,NM_000642,NM_000643,NM_000644,NM_000646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361522.4,ENST00000361302.7,ENST00000361915.7,ENST00000370165.7,ENST00000370163.7,ENST00000370161.6,ENST00000294724.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"209354:A-rich(Low_complexity)";avsnp150=rs538389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.7017;1000g2015aug_all=0.76258;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:140,0,104 1 100336361 rs2230306 C T 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.456;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.982;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGL;Func=exonic;Gene=NM_000028,NM_000642,NM_000643,NM_000644,NM_000646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L;Gencode=Name\x3eENST00000361522.4,ENST00000361302.7,ENST00000361915.7,ENST00000370165.7,ENST00000370163.7,ENST00000294724.8,ENST00000370161.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230306;cosmic70=.;CLNALLELEID=195593;CLNDN=Glycogen_storage_disease_type_III|not_specified;CLNDISDB=MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED_CT:66937008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.7017;1000g2015aug_all=0.76258;esp6500siv2_all=0.7671;ExAC_ALL=0.7214;ExAC_AFR=0.9144;ExAC_AMR=0.6901;ExAC_EAS=0.6811;ExAC_FIN=0.6795;ExAC_NFE=0.7011;ExAC_OTH=0.6998;ExAC_SAS=0.7494;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,23:48:99:566,0,662 1 100584475 rs115457757 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.44;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSASS6;Func=intronic;Gene=NM_001304829,NM_194292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000287482.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e378\x3bName\x3e"209947:L1ME4a(LINE)";avsnp150=rs115457757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.007;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 100598866 rs472498 G A 3528.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=2.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRMT13;Func=exonic;Gene=NM_019083;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRMT13:NM_019083:exon1:c.G142A:p.A48T;Gencode=Name\x3eENST00000370143.5,ENST00000370141.6,ENST00000370139.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs472498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9286;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.8905;1000g2015aug_all=0.75639;esp6500siv2_all=0.7137;ExAC_ALL=0.8402;ExAC_AFR=0.4465;ExAC_AMR=0.9332;ExAC_EAS=0.9562;ExAC_FIN=0.8891;ExAC_NFE=0.8511;ExAC_OTH=0.8604;ExAC_SAS=0.8952;SIFT_score=0.285;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.04;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.928;MutationTaster_pred=P;MutationAssessor_score=0.83;MutationAssessor_pred=L;FATHMM_score=0.87;FATHMM_pred=T;phyloP100way_vertebrate=2.023;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=10.376;gerp++gt2=4.07;CADD=3.357;CADD_Phred=22.9;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:3557,241,0 1 100598867 rs687513 C T 3528.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=1.966;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRMT13;Func=exonic;Gene=NM_019083;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRMT13:NM_019083:exon1:c.C143T:p.A48V;Gencode=Name\x3eENST00000370143.5,ENST00000370141.6,ENST00000370139.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs687513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9286;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.8905;1000g2015aug_all=0.75639;esp6500siv2_all=0.7133;ExAC_ALL=0.8403;ExAC_AFR=0.4467;ExAC_AMR=0.9332;ExAC_EAS=0.9562;ExAC_FIN=0.8890;ExAC_NFE=0.8512;ExAC_OTH=0.8607;ExAC_SAS=0.8953;SIFT_score=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.327;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.602;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.85;FATHMM_pred=T;phyloP100way_vertebrate=1.503;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=8.404;gerp++gt2=4.99;CADD=4.057;CADD_Phred=23.7;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:3557,241,0 1 100609743 rs41287244 T G 693.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.223;DP=71;ExcessHet=3.0103;FS=0.948;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.386;SOR=0.486;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRMT13;Func=intronic;Gene=NM_019083;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370141.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41287244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0245;1000g2015aug_all=0.013778;esp6500siv2_all=0.0178;ExAC_ALL=0.0230;ExAC_AFR=0.0038;ExAC_AMR=0.0112;ExAC_EAS=0.0001;ExAC_FIN=0.0620;ExAC_NFE=0.0288;ExAC_OTH=0.0225;ExAC_SAS=0.0160;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,29:71:99:722,0,1166 1 100617887 rs2784177 C T 362.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC39;Func=intronic;Gene=NM_001256385,NM_001256386,NM_001256387,NM_144620;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370138.1,ENST00000342895.7,ENST00000620882.4,ENST00000370137.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2784177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.9467;1000g2015aug_all=0.902756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:391,33,0 1 100671867 rs183058253 A T 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.756;DP=38;ExcessHet=3.0103;FS=1.397;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.65;ReadPosRankSum=1.037;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDBT;Func=intronic;Gene=NM_001918;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370132.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183058253;cosmic70=.;CLNALLELEID=99887;CLNDN=Maple_syrup_urine_disease|not_specified;CLNDISDB=MedGen:C0024776,OMIM:248600,SNOMED_CT:27718001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0696885;esp6500siv2_all=0.0265;ExAC_ALL=0.1269;ExAC_AFR=0.1344;ExAC_AMR=0.0502;ExAC_EAS=0.1071;ExAC_FIN=0.0994;ExAC_NFE=0.1289;ExAC_OTH=0.1598;ExAC_SAS=0.2060;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,14:38:99:281,0,635 1 100672060 rs12021720 T C 2543.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDBT;Func=exonic;Gene=NM_001918;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DBT:NM_001918:exon9:c.A1150G:p.S384G;Gencode=Name\x3eENST00000370132.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12021720;cosmic70=.;CLNALLELEID=134332;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.7443;1000g2015aug_amr=0.9481;1000g2015aug_all=0.891773;esp6500siv2_all=0.8592;ExAC_ALL=0.9138;ExAC_AFR=0.7642;ExAC_AMR=0.9628;ExAC_EAS=0.9703;ExAC_FIN=0.9338;ExAC_NFE=0.9096;ExAC_OTH=0.9306;ExAC_SAS=0.9521;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.19;FATHMM_pred=T;phyloP100way_vertebrate=1.939;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=9.627;gerp++gt2=4.4;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2572,248,0 1 100715454 rs3806235 G A 4340.77 PASS AC=2;AF=1;AN=2;DP=129;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=1.703;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001918;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.866;1000g2015aug_all=0.72504;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,129:129:99:4369,387,0 1 100731820 rs57327535 G A 826.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.1;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRTCA;Func=UTR5;Gene=NM_001130841,NM_003729;GeneDetail=NM_001130841:c.-112G>A\x3bNM_003729:c.-112G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370128.8,ENST00000260563.4;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57327535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.8775;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:855,57,0 1 100733552 rs4298755 T C 723.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRTCA;Func=intronic;Gene=NM_001130841,NM_003729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260563.4,ENST00000370128.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4298755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.8775;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:752,54,0 1 100742670 rs4495726 A G 460.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.03;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRTCA;Func=intronic;Gene=NM_001130841,NM_003729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260563.4,ENST00000370128.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4495726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.8775;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:489,36,0 1 100743078 rs4433415 A G 482.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRTCA;Func=intronic;Gene=NM_001130841,NM_003729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370128.8,ENST00000260563.4;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e247\x3bName\x3e"210327:L1MC4(LINE)";avsnp150=rs4433415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.8775;1000g2015aug_all=0.770168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:511,39,0 1 100751055 rs10875286 G C 346.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.29;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRTCA;Func=intronic;Gene=NM_001130841,NM_003729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000260563.4,ENST00000370128.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1302\x3bName\x3e"210351:L2c(LINE)";avsnp150=rs10875286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.4977;1000g2015aug_amr=0.8588;1000g2015aug_all=0.778754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:375,27,0 1 100817384 rs28361189 A G 951.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.58;DP=89;ExcessHet=3.0103;FS=2.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.999;SOR=0.436;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001319211;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28361189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.1009;1000g2015aug_all=0.0896565;esp6500siv2_all=.;ExAC_ALL=0.1242;ExAC_AFR=0.0661;ExAC_AMR=0.0951;ExAC_EAS=0.0409;ExAC_FIN=0.2553;ExAC_NFE=0.1706;ExAC_OTH=0.1262;ExAC_SAS=0.0773;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,44:89:99:980,0,1125 1 100818286 rs527644 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=UTR5;Gene=NM_001319210,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=NM_001319210:c.-225A>T\x3bNM_001319212:c.-115267A>T\x3bNM_003672:c.-225A>T\x3bNM_033312:c.-225A>T\x3bNM_033313:c.-225A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370124.7,ENST00000336454.3,ENST00000361544.10;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.9105;1000g2015aug_afr=0.6029;1000g2015aug_amr=0.8602;1000g2015aug_all=0.817093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 100818464 rs594529 T C 1303.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=UTR5;Gene=NM_001319210,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=NM_001319210:c.-47T>C\x3bNM_001319212:c.-115089T>C\x3bNM_003672:c.-47T>C\x3bNM_033312:c.-47T>C\x3bNM_033313:c.-47T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370124.7,ENST00000361544.10,ENST00000336454.3;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs594529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9755;1000g2015aug_eur=0.9801;1000g2015aug_afr=1;1000g2015aug_amr=0.9712;1000g2015aug_all=0.983427;esp6500siv2_all=0.9845;ExAC_ALL=0.9785;ExAC_AFR=0.9958;ExAC_AMR=0.9678;ExAC_EAS=0.9829;ExAC_FIN=0.9742;ExAC_NFE=0.9798;ExAC_OTH=0.9768;ExAC_SAS=0.9694;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1332,123,0 1 100818728 rs17420882 T G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.484;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361544.10,ENST00000336454.3,ENST00000370124.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17420882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.1916;1000g2015aug_all=0.23123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,112 1 100819273 rs2297170 T C 274.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.108;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.714;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370124.7,ENST00000336454.3,ENST00000361544.10;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.147;1000g2015aug_all=0.170527;esp6500siv2_all=0.2031;ExAC_ALL=0.1922;ExAC_AFR=0.2323;ExAC_AMR=0.1326;ExAC_EAS=0.1396;ExAC_FIN=0.2772;ExAC_NFE=0.2233;ExAC_OTH=0.1801;ExAC_SAS=0.1129;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:303,0,324 1 100856479 rs28361213 C T 320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.248;DP=28;ExcessHet=3.0103;FS=9.416;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.116;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336454.3,ENST00000361544.10,ENST00000370124.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28361213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.165;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.0821;1000g2015aug_all=0.0844649;esp6500siv2_all=.;ExAC_ALL=0.1673;ExAC_AFR=0.0844;ExAC_AMR=0.1186;ExAC_EAS=0.0843;ExAC_FIN=0.3238;ExAC_NFE=0.2203;ExAC_OTH=0.1519;ExAC_SAS=0.0832;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:349,0,472 1 100920901 rs28364871 C T 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.754;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-1.409;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370124.7,ENST00000336454.3,ENST00000361544.10;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28364871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0159;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00539137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:306,0,165 1 100949860 rs2270694 G A 352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.159;DP=34;ExcessHet=3.0103;FS=3.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.242;SOR=0.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=exonic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312,NM_033313;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDC14A:NM_001319212:exon10:c.G111A:p.S37S,CDC14A:NM_001319210:exon11:c.G990A:p.S330S,CDC14A:NM_001319211:exon11:c.G816A:p.S272S,CDC14A:NM_003672:exon11:c.G990A:p.S330S,CDC14A:NM_033312:exon11:c.G990A:p.S330S,CDC14A:NM_033313:exon11:c.G990A:p.S330S;Gencode=Name\x3eENST00000370124.7,ENST00000336454.3,ENST00000361544.10,ENST00000432210.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270694;cosmic70=.;CLNALLELEID=496140;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.091;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.059;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0882588;esp6500siv2_all=0.1078;ExAC_ALL=0.1676;ExAC_AFR=0.0822;ExAC_AMR=0.1444;ExAC_EAS=0.1166;ExAC_FIN=0.2112;ExAC_NFE=0.1971;ExAC_OTH=0.1738;ExAC_SAS=0.1220;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:381,0,514 1 100961419 rs2270692 A G 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336454.3,ENST00000361544.10;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.9712;1000g2015aug_all=0.908746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 100963418 rs904296 T G 506.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_001319211,NM_001319212,NM_003672,NM_033312;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336454.3,ENST00000361544.10;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e847\x3bName\x3e"210784:MIR(SINE)";avsnp150=rs904296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.9712;1000g2015aug_all=0.908147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:535,51,0 1 100983623 rs3767839 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=intronic;Gene=NM_001319210,NM_003672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336454.3;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.996;1000g2015aug_afr=0.652;1000g2015aug_amr=0.9683;1000g2015aug_all=0.885184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 100984092 rs10783134 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC14A;Func=UTR3;Gene=NM_001319210,NM_003672;GeneDetail=NM_001319210:c.*332T>C\x3bNM_003672:c.*256T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336454.3;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10783134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9226;1000g2015aug_sas=0.9888;1000g2015aug_eur=0.995;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.9597;1000g2015aug_all=0.833466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 100997833 rs6678073 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003672,NM_022049;GeneDetail=dist\x3e12000\x3bdist\x3e5895;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e226\x3bName\x3e"210827:L2c(LINE)";avsnp150=rs6678073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.907;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.8775;1000g2015aug_all=0.803115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 101005090 rs2809819 G A 868.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR88;Func=exonic;Gene=NM_022049;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GPR88:NM_022049:exon2:c.G568A:p.V190I;Gencode=Name\x3eENST00000315033.4;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6915;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.6412;1000g2015aug_all=0.483227;esp6500siv2_all=0.3594;ExAC_ALL=0.5986;ExAC_AFR=0.3227;ExAC_AMR=0.7937;ExAC_EAS=0.8064;ExAC_FIN=0.6966;ExAC_NFE=0.6258;ExAC_OTH=0.6833;ExAC_SAS=0.5689;SIFT_score=0.426;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.724;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.42;FATHMM_pred=T;phyloP100way_vertebrate=0.180;phyloP20way_mammalian=-0.103;SiPhy_29way_logOdds=6.164;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:897,84,0 1 101040195 rs2647325 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022049,NR_038914;GeneDetail=dist\x3e32612\x3bdist\x3e52411;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e971\x3bName\x3e"210914:L1M7(LINE)";avsnp150=rs2647325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.745;1000g2015aug_all=0.691494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 101189027 rs1476408 C G 765.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVCAM1;Func=intronic;Gene=NM_001078,NM_001199834,NM_080682;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000347652.6,ENST00000370119.8,ENST00000294728.6,ENST00000370115.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1476408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9986;1000g2015aug_all=0.984425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:794,57,0 1 101199979 rs3176875 A G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVCAM1;Func=intronic;Gene=NM_001078,NM_001199834,NM_080682;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294728.6,ENST00000370119.8,ENST00000347652.6,ENST00000370115.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3176875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8532;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.8328;1000g2015aug_amr=0.9813;1000g2015aug_all=0.914137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 101203664 rs3917020 T G 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.308;DP=21;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.392;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVCAM1;Func=intronic;Gene=NM_001078,NM_001199834,NM_080682;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370115.1,ENST00000294728.6,ENST00000370119.8,ENST00000347652.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00479233;esp6500siv2_all=0.0155;ExAC_ALL=0.0136;ExAC_AFR=0.0029;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0262;ExAC_NFE=0.0198;ExAC_OTH=0.0134;ExAC_SAS=0.0022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:279,0,336 1 101203698 rs3176878 C T 399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=32;ExcessHet=3.0103;FS=1.604;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.548;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVCAM1;Func=exonic;Gene=NM_001078,NM_001199834,NM_080682;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VCAM1:NM_080682:exon8:c.C1803T:p.D601D,VCAM1:NM_001078:exon9:c.C2079T:p.D693D,VCAM1:NM_001199834:exon9:c.C1893T:p.D631D;Gencode=Name\x3eENST00000347652.6,ENST00000370119.8,ENST00000294728.6,ENST00000370115.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3176878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.2435;1000g2015aug_all=0.129193;esp6500siv2_all=0.1666;ExAC_ALL=0.1577;ExAC_AFR=0.1582;ExAC_AMR=0.2855;ExAC_EAS=0.0111;ExAC_FIN=0.1184;ExAC_NFE=0.1748;ExAC_OTH=0.1377;ExAC_SAS=0.0918;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:428,0,444 1 101203827 rs3176879 G A 1541.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=1.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVCAM1;Func=exonic;Gene=NM_001078,NM_001199834,NM_080682;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VCAM1:NM_080682:exon8:c.G1932A:p.K644K,VCAM1:NM_001078:exon9:c.G2208A:p.K736K,VCAM1:NM_001199834:exon9:c.G2022A:p.K674K;Gencode=Name\x3eENST00000294728.6,ENST00000370119.8,ENST00000347652.6,ENST00000370115.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3176879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9702;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.9625;1000g2015aug_all=0.871206;esp6500siv2_all=0.8846;ExAC_ALL=0.9374;ExAC_AFR=0.7095;ExAC_AMR=0.9666;ExAC_EAS=0.8306;ExAC_FIN=0.9682;ExAC_NFE=0.9716;ExAC_OTH=0.9548;ExAC_SAS=0.9649;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1570,156,0 1 101340134 rs12039319 C T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=-0.241;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL2;Func=intronic;Gene=NM_001033025,NM_001261440,NM_001261441,NM_001261442,NM_001439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370114.7,ENST00000370113.7,ENST00000535414.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12039319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.3833;1000g2015aug_all=0.352037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:95:95,0,223 1 101342497 rs2295280 T C 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.637;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=0.521;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL2;Func=intronic;Gene=NM_001033025,NM_001261440,NM_001261441,NM_001261442,NM_001439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370113.7,ENST00000370114.7,ENST00000535414.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.211;1000g2015aug_amr=0.4179;1000g2015aug_all=0.322085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,8:24:99:228,0,494 1 101354479 rs12747459 T C 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.581;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.423;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXTL2;Func=intronic;Gene=NM_001033025,NM_001261440,NM_001261441,NM_001261442,NM_001439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370114.7,ENST00000370113.7,ENST00000535414.5;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12747459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0583067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:486,0,519 1 101372607 rs4908106 C A 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A7;Func=intronic;Gene=NM_001144884,NM_133496;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357650.8,ENST00000370112.8;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e309\x3bName\x3e"211440:L1ME3A(LINE)";avsnp150=rs4908106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 101473779 rs17123604 T C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.805;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPH5;Func=intronic;Gene=NM_001077394,NM_001077395,NM_015958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342173.11,ENST00000617698.4,ENST00000488176.1,ENST00000370109.7;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17123604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0916534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:167,0,179 1 101476786 rs34915449 G A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPH5;Func=intronic;Gene=NM_001077394,NM_001077395,NM_015958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000488176.1,ENST00000617698.4,ENST00000370109.7,ENST00000342173.11;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34915449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.1744;1000g2015aug_all=0.235024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 101476814 rs17123612 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.113;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPH5;Func=intronic;Gene=NM_001077394,NM_001077395,NM_015958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000488176.1,ENST00000617698.4,ENST00000370109.7,ENST00000342173.11;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17123612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.1744;1000g2015aug_all=0.235024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 101704532 rs3737577 G T 1957.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=2.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS1PR1;Func=UTR5;Gene=NM_001320730,NM_001400;GeneDetail=NM_001320730:c.-9G>T\x3bNM_001400:c.-9G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000305352.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.338;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.1729;1000g2015aug_all=0.146366;esp6500siv2_all=0.2414;ExAC_ALL=0.2703;ExAC_AFR=0.0689;ExAC_AMR=0.1244;ExAC_EAS=0.1581;ExAC_FIN=0.2978;ExAC_NFE=0.3550;ExAC_OTH=0.2826;ExAC_SAS=0.1684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1986,171,0 1 101704577 rs41287280 C G 1109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.345;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.993;SOR=0.641;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS1PR1;Func=exonic;Gene=NM_001320730,NM_001400;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=S1PR1:NM_001320730:exon2:c.C37G:p.R13G,S1PR1:NM_001400:exon2:c.C37G:p.R13G;Gencode=Name\x3eENST00000305352.6;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41287280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0249;1000g2015aug_afr=.;1000g2015aug_amr=0.0115;1000g2015aug_all=0.00698882;esp6500siv2_all=0.0131;ExAC_ALL=0.0140;ExAC_AFR=0.0038;ExAC_AMR=0.0049;ExAC_EAS=0.0005;ExAC_FIN=0.0357;ExAC_NFE=0.0195;ExAC_OTH=0.0169;ExAC_SAS=0.0027;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.75;MutationAssessor_pred=N;FATHMM_score=-0.68;FATHMM_pred=T;phyloP100way_vertebrate=2.088;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=11.056;gerp++gt2=4.98;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,45:89:99:1138,0,1073 1 101821850 rs11164174 A C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01307;Func=ncRNA_intronic;Gene=NR_126402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444327.1,ENST00000439146.1;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4564\x3bName\x3e"212293:L1MA7(LINE)";avsnp150=rs11164174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.6729;1000g2015aug_all=0.587859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 102002689 rs1681845 G A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126402,NM_058170;GeneDetail=dist\x3e159820\x3bdist\x3e265434;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1513\x3bName\x3e"212615:MSTB1(LTR)";avsnp150=rs1681845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.289;1000g2015aug_amr=0.2709;1000g2015aug_all=0.299121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,73 1 102009343 rs975532286 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126402,NM_058170;GeneDetail=dist\x3e166474\x3bdist\x3e258780;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e713\x3bName\x3e"212627:LTR50(LTR)";avsnp150=rs975532286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 102009352 rs1146713 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126402,NM_058170;GeneDetail=dist\x3e166483\x3bdist\x3e258771;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e713\x3bName\x3e"212627:LTR50(LTR)";avsnp150=rs1146713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8859;1000g2015aug_sas=0.8528;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.745;1000g2015aug_all=0.867612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 102210768 rs6666029 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126402,NM_058170;GeneDetail=dist\x3e367899\x3bdist\x3e57355;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2452\x3bName\x3e"212977:AluY(SINE)";avsnp150=rs6666029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.3386;1000g2015aug_all=0.294329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 102296144 rs10493974 T G 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.616;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.723;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFM3;Func=intronic;Gene=NM_001288821,NM_001288823,NM_058170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536598.1,ENST00000370103.8,ENST00000338858.9;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.1081;1000g2015aug_all=0.146765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,196 1 102296279 rs10493973 T C 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.504;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.1;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFM3;Func=exonic;Gene=NM_001288821,NM_001288823,NM_058170;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OLFM3:NM_001288821:exon3:c.A381G:p.K127K,OLFM3:NM_058170:exon3:c.A321G:p.K107K,OLFM3:NM_001288823:exon4:c.A96G:p.K32K;Gencode=Name\x3eENST00000536598.1,ENST00000370103.8,ENST00000338858.9;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10493973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.1081;1000g2015aug_all=0.146965;esp6500siv2_all=0.2000;ExAC_ALL=0.1570;ExAC_AFR=0.2484;ExAC_AMR=0.0751;ExAC_EAS=0.0110;ExAC_FIN=0.1819;ExAC_NFE=0.1815;ExAC_OTH=0.1949;ExAC_SAS=0.1222;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:189,0,429 1 102296496 rs12067670 C A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFM3;Func=intronic;Gene=NM_001288821,NM_001288823,NM_058170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370103.8,ENST00000536598.1,ENST00000338858.9;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12067670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0273562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 102462156 rs1415092 G C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFM3;Func=intronic;Gene=NM_001288823,NM_058170;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370103.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1415092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.1859;1000g2015aug_all=0.165335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 102688709 rs77058766 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e225919\x3bdist\x3e653314;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447916.1;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1940\x3bName\x3e"213701:MLT2A2(LTR)";avsnp150=rs77058766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0573;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.121;1000g2015aug_all=0.0501198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 102688734 rs1592112 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e225944\x3bdist\x3e653289;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447916.1;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1940\x3bName\x3e"213701:MLT2A2(LTR)";avsnp150=rs1592112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.7594;1000g2015aug_all=0.750599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103013087 rs1517419 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e550297\x3bdist\x3e328936;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1517419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.6329;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.7233;1000g2015aug_all=0.568091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103029158 rs1607210 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e566368\x3bdist\x3e312865;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11987\x3bName\x3e"214278:Tigger1(DNA)";avsnp150=rs1607210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.729;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.804;1000g2015aug_all=0.60024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 103088742 rs11164559 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e625952\x3bdist\x3e253281;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.719;1000g2015aug_all=0.470447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103111868 rs11164564 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e649078\x3bdist\x3e230155;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1770\x3bName\x3e"214424:LTR55(LTR)";avsnp150=rs11164564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.732;1000g2015aug_all=0.506789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103159121 rs1376358 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_058170,NM_080630;GeneDetail=dist\x3e696331\x3bdist\x3e182902;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1984\x3bName\x3e"214514:THE1C(LTR)";avsnp150=rs1376358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.9496;1000g2015aug_all=0.883387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 103352076 rs1463048 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1463048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.7478;1000g2015aug_all=0.484625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103352451 rs2229783 A G 2086.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=exonic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL11A1:NM_080630:exon61:c.T4422C:p.I1474I,COL11A1:NM_001190709:exon62:c.T4653C:p.I1551I,COL11A1:NM_001854:exon63:c.T4770C:p.I1590I,COL11A1:NM_080629:exon63:c.T4806C:p.I1602I;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229783;cosmic70=.;CLNALLELEID=249270;CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.7478;1000g2015aug_all=0.484625;esp6500siv2_all=0.4484;ExAC_ALL=0.5801;ExAC_AFR=0.1263;ExAC_AMR=0.7508;ExAC_EAS=0.6445;ExAC_FIN=0.6522;ExAC_NFE=0.6067;ExAC_OTH=0.6222;ExAC_SAS=0.5743;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2115,200,0 1 103353900 rs11164632 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000358392.6,ENST00000370096.7;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.7478;1000g2015aug_all=0.484425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103353933 rs11164633 G T 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.7478;1000g2015aug_all=0.484425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 103353934 rs2615980 C T 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2615980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.8156;1000g2015aug_all=0.582867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 103354138 rs1676486 A G 1582.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=exonic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1676486;cosmic70=.;CLNALLELEID=32176;CLNDN=Marshall_syndrome|Fibrochondrogenesis|Lumbar_disc_herniation,_susceptibility_to|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:C2676840|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.83;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.8948;1000g2015aug_all=0.782947;esp6500siv2_all=0.8070;ExAC_ALL=0.7942;ExAC_AFR=0.8103;ExAC_AMR=0.8781;ExAC_EAS=0.7304;ExAC_FIN=0.8634;ExAC_NFE=0.8088;ExAC_OTH=0.8289;ExAC_SAS=0.6706;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.601;MutationTaster_pred=P;MutationAssessor_score=-1.41;MutationAssessor_pred=N;FATHMM_score=-3.42;FATHMM_pred=D;phyloP100way_vertebrate=5.474;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=14.890;gerp++gt2=5.67;CADD=2.942;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1611,156,0 1 103354428 rs1763347 A G 2572.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=exonic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COL11A1:NM_080630:exon58:c.T4164C:p.G1388G,COL11A1:NM_001190709:exon59:c.T4395C:p.G1465G,COL11A1:NM_001854:exon60:c.T4512C:p.G1504G,COL11A1:NM_080629:exon60:c.T4548C:p.G1516G;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1763347;cosmic70=.;CLNALLELEID=249274;CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.8401;1000g2015aug_all=0.622604;esp6500siv2_all=0.6229;ExAC_ALL=0.7239;ExAC_AFR=0.3112;ExAC_AMR=0.8342;ExAC_EAS=0.7251;ExAC_FIN=0.8109;ExAC_NFE=0.7779;ExAC_OTH=0.7698;ExAC_SAS=0.6491;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2601,234,0 1 103356168 rs1085 A C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000358392.6,ENST00000370096.7,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.8415;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 103377968 rs11164636 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.8646;1000g2015aug_all=0.691494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 103379918 rs3753841 G A 1126.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=exonic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=COL11A1:NM_080630:exon50:c.C3620T:p.P1207L,COL11A1:NM_001190709:exon51:c.C3851T:p.P1284L,COL11A1:NM_001854:exon52:c.C3968T:p.P1323L,COL11A1:NM_080629:exon52:c.C4004T:p.P1335L;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000358392.6,ENST00000370096.7;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753841;cosmic70=.;CLNALLELEID=249279;CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=Name\x3eGlaucoma_(primary_angle_closure);1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.755;1000g2015aug_all=0.496605;esp6500siv2_all=0.4517;ExAC_ALL=0.5916;ExAC_AFR=0.1264;ExAC_AMR=0.7617;ExAC_EAS=0.6892;ExAC_FIN=0.6703;ExAC_NFE=0.6114;ExAC_OTH=0.6425;ExAC_SAS=0.5933;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.104;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.62;MutationAssessor_pred=M;FATHMM_score=-4.09;FATHMM_pred=D;phyloP100way_vertebrate=9.294;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=19.960;gerp++gt2=5.75;CADD=5.659;CADD_Phred=26.7;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1155,105,0 1 103385653 rs11801437 G A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000358392.6,ENST00000370096.7,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e242\x3bName\x3e"214838:MIRb(SINE)";avsnp150=rs11801437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.879;1000g2015aug_all=0.713458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 103386807 rs10127706 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10127706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.879;1000g2015aug_all=0.713658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103400399 rs2045818 C T 341.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2045818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.915;1000g2015aug_all=0.778954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:370,27,0 1 103400491 rs11164641 G A 1771.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.39;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.351;1000g2015aug_amr=0.9135;1000g2015aug_all=0.777556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1800,120,0 1 103400492 rs11164642 A T 1771.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.351;1000g2015aug_amr=0.9135;1000g2015aug_all=0.777556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1800,120,0 1 103405793 rs2126642 G A 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.249;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2126642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.2305;1000g2015aug_all=0.159944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:258,0,196 1 103427381 rs1012282 A G 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.143;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.442;SOR=0.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1012282;cosmic70=.;CLNALLELEID=249284;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.255;1000g2015aug_all=0.241414;esp6500siv2_all=0.3012;ExAC_ALL=0.2558;ExAC_AFR=0.3923;ExAC_AMR=0.2797;ExAC_EAS=0.0908;ExAC_FIN=0.2687;ExAC_NFE=0.2706;ExAC_OTH=0.2837;ExAC_SAS=0.1693;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:205,0,416 1 103428389 rs1841834 G A 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.79;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1841834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.9726;1000g2015aug_all=0.948682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 103435626 rs2061710 G A 299.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358392.6,ENST00000370096.7,ENST00000512756.5,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"214877:(TA)n(Simple_repeat)";avsnp150=rs2061710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.9697;1000g2015aug_all=0.932708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:328,24,0 1 103444497 rs1903787 A G 722.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.655;DP=64;ExcessHet=3.0103;FS=3.612;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.287;SOR=1.234;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000358392.6,ENST00000370096.7;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1903787;cosmic70=.;CLNALLELEID=249290;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.556;1000g2015aug_amr=0.2651;1000g2015aug_all=0.284145;esp6500siv2_all=0.3402;ExAC_ALL=0.2610;ExAC_AFR=0.5058;ExAC_AMR=0.2768;ExAC_EAS=0.0891;ExAC_FIN=0.2656;ExAC_NFE=0.2665;ExAC_OTH=0.2819;ExAC_SAS=0.1613;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,26:64:99:751,0,974 1 103444679 rs11164649 T G 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.127;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.875;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358392.6,ENST00000370096.7,ENST00000512756.5,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11164649;cosmic70=.;CLNALLELEID=249292;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.6916;1000g2015aug_all=0.629193;esp6500siv2_all=0.5517;ExAC_ALL=0.6912;ExAC_AFR=0.2508;ExAC_AMR=0.6985;ExAC_EAS=0.9116;ExAC_FIN=0.7054;ExAC_NFE=0.6943;ExAC_OTH=0.6803;ExAC_SAS=0.8244;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:524,0,405 1 103445223 rs2622846 G A 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=1.368;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358392.6,ENST00000370096.7,ENST00000512756.5,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2622846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.255;1000g2015aug_all=0.240415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:92:92,0,146 1 103445389 rs12119971 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12119971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.1729;1000g2015aug_all=0.066893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 103449598 rs2615978 G C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2615978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.851;1000g2015aug_amr=0.9726;1000g2015aug_all=0.948283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 103453379 rs2622858 G C 257.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=1.567;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3033\x3bName\x3e"214897:LTR8A(LTR)";avsnp150=rs2622858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2349;1000g2015aug_all=0.194688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:286,0,286 1 103455217 rs1463034 C T 613.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1463034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.9213;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.9179;1000g2015aug_all=0.807109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:642,57,0 1 103461508 rs2622867 T A 602.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000358392.6,ENST00000370096.7;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2622867;cosmic70=.;CLNALLELEID=249294;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.964;1000g2015aug_all=0.923922;esp6500siv2_all=0.9055;ExAC_ALL=0.9536;ExAC_AFR=0.7896;ExAC_AMR=0.9758;ExAC_EAS=1;ExAC_FIN=0.9700;ExAC_NFE=0.9596;ExAC_OTH=0.9659;ExAC_SAS=0.9849;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:631,60,0 1 103462386 rs2622868 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000358392.6,ENST00000370096.7;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2622868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.674;1000g2015aug_amr=0.9568;1000g2015aug_all=0.899361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 103462473 rs2786125 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000358392.6,ENST00000370096.7,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9335;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9354;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.9366;1000g2015aug_all=0.849441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 103463976 rs2622870 G T 1065.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2622870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9335;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9354;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.9366;1000g2015aug_all=0.849441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1094,99,0 1 103464061 rs10874672 T A 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000358392.6,ENST00000370096.7,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10874672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.9213;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.4902;1000g2015aug_amr=0.9179;1000g2015aug_all=0.807308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 103467223 rs12131957 T C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12131957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1729;1000g2015aug_all=0.0664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 103467596 rs12135531 A G 424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.615;DP=30;ExcessHet=3.0103;FS=1.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.628;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000512756.5,ENST00000370096.7,ENST00000358392.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.1744;1000g2015aug_all=0.0726837;esp6500siv2_all=0.1117;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:453,0,486 1 103467615 rs2929162 C T 1011.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.12;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2929162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.764;1000g2015aug_amr=0.964;1000g2015aug_all=0.924121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1040,78,0 1 103468609 rs2251895 A G 1069.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.964;1000g2015aug_all=0.924321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1098,96,0 1 103468767 rs12136577 A T 803.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.456;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.773;SOR=0.736;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136577;cosmic70=.;CLNALLELEID=249297;CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.1744;1000g2015aug_all=0.0726837;esp6500siv2_all=0.1060;ExAC_ALL=0.1229;ExAC_AFR=0.0514;ExAC_AMR=0.1978;ExAC_EAS=0.0014;ExAC_FIN=0.1627;ExAC_NFE=0.1452;ExAC_OTH=0.1491;ExAC_SAS=0.0704;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,32:61:99:832,0,709 1 103483514 rs945748 C T 493.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.824;DP=26;ExcessHet=3.0103;FS=2.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.818;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.6902;1000g2015aug_all=0.638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,16:26:99:522,0,271 1 103496620 rs7523441 G T 670.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000370096.7,ENST00000358392.6,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.9726;1000g2015aug_all=0.943091;esp6500siv2_all=0.9254;ExAC_ALL=0.9594;ExAC_AFR=0.8545;ExAC_AMR=0.9780;ExAC_EAS=1;ExAC_FIN=0.9707;ExAC_NFE=0.9595;ExAC_OTH=0.9690;ExAC_SAS=0.9853;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:699,60,0 1 103540489 rs34822172 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.135;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000358392.6,ENST00000370096.7,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34822172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0675;1000g2015aug_sas=0.136;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.171;1000g2015aug_amr=0.2118;1000g2015aug_all=0.154553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 103544191 rs6668897 C T 1356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.346;DP=97;ExcessHet=3.0103;FS=0.849;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.043;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512756.5,ENST00000370096.7,ENST00000358392.6,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668897;cosmic70=.;CLNALLELEID=249300;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.1844;1000g2015aug_all=0.0976438;esp6500siv2_all=0.1368;ExAC_ALL=0.1472;ExAC_AFR=0.1028;ExAC_AMR=0.2209;ExAC_EAS=0.0062;ExAC_FIN=0.2028;ExAC_NFE=0.1653;ExAC_OTH=0.1915;ExAC_SAS=0.1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,51:96:99:1385,0,1335 1 103544434 rs12136865 A G 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.005;DP=31;ExcessHet=3.0103;FS=3.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=-0.12;SOR=0.152;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353414.8,ENST00000358392.6,ENST00000370096.7,ENST00000512756.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136865;cosmic70=.;CLNALLELEID=249301;CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.1844;1000g2015aug_all=0.0976438;esp6500siv2_all=0.1316;ExAC_ALL=0.1700;ExAC_AFR=0.1150;ExAC_AMR=0.2678;ExAC_EAS=0.0084;ExAC_FIN=0.2268;ExAC_NFE=0.1932;ExAC_OTH=0.2153;ExAC_SAS=0.1107;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,18:31:99:578,0,450 1 103548319 rs11164662 C G 435.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.945;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.48;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370096.7,ENST00000358392.6,ENST00000512756.5,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"214999:(ATA)n(Simple_repeat)";avsnp150=rs11164662;cosmic70=.;CLNALLELEID=249303;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.1853;1000g2015aug_amr=0.6455;1000g2015aug_all=0.576278;esp6500siv2_all=0.4562;ExAC_ALL=0.5918;ExAC_AFR=0.2540;ExAC_AMR=0.6585;ExAC_EAS=0.9109;ExAC_FIN=0.5325;ExAC_NFE=0.5689;ExAC_OTH=0.5673;ExAC_SAS=0.6886;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:464,0,423 1 103573547 rs6691654 G A 697.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOL11A1;Func=intronic;Gene=NM_001190709,NM_001854,NM_080629,NM_080630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358392.6,ENST00000370096.7,ENST00000512756.5,ENST00000353414.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.998;1000g2015aug_eur=0.996;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.9496;1000g2015aug_all=0.871605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:65:726,65,0 1 103754196 rs6657682 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080630,NM_001286997;GeneDetail=dist\x3e180144\x3bdist\x3e128441;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e534\x3bName\x3e"215299:L2c(LINE)";avsnp150=rs6657682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.9971;1000g2015aug_all=0.96905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 103754201 rs6695287 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080630,NM_001286997;GeneDetail=dist\x3e180149\x3bdist\x3e128436;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e534\x3bName\x3e"215299:L2c(LINE)";avsnp150=rs6695287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.9582;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 103975711 rs6676023 G A 1138.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928436;Func=UTR5;Gene=NM_001286997,NM_001347929,NM_001347930;GeneDetail=NM_001286997:c.-27C>T\x3bNM_001347929:c.-27C>T\x3bNM_001347930:c.-27C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447322.2,ENST00000444810.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6676023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1167,93,0 1 104078989 rs10881214 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPC3;Func=intronic;Gene=NM_017619;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524631.5,ENST00000533099.5,ENST00000423855.6;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10881214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.5389;1000g2015aug_all=0.605232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 104080169 rs10736038 G C 1418.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPC3;Func=intronic;Gene=NM_017619;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533099.5,ENST00000423855.6,ENST00000524631.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10736038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.5389;1000g2015aug_all=0.602037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1447,126,0 1 104084226 rs10881232 A G 53.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPC3;Func=intronic;Gene=NM_017619;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423855.6,ENST00000533099.5,ENST00000524631.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10881232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.5389;1000g2015aug_all=0.605431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:81,6,0 1 104086145 rs10785725 A G 161.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPC3;Func=intronic;Gene=NM_017619;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533099.5,ENST00000423855.6,ENST00000524631.5;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10785725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:190,21,0 1 104113158 rs12132911 C T 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.171;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-1.025;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMY2B,ACTG1P4;Func=ncRNA_exonic;Gene=NR_024438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361355.8;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.318;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.1282;1000g2015aug_all=0.156949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:173,0,264 1 104116312 rs12132040 A G 402.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.117;DP=31;ExcessHet=3.0103;FS=1.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.158;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMY2B;Func=intronic;Gene=NM_020978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361355.8,ENST00000610648.1;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.937016\x3bName\x3echr1:103616656;Repeat=.;avsnp150=rs12132040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.1268;1000g2015aug_all=0.157348;esp6500siv2_all=0.1435;ExAC_ALL=0.1830;ExAC_AFR=0.0594;ExAC_AMR=0.1412;ExAC_EAS=0.1392;ExAC_FIN=0.1797;ExAC_NFE=0.1946;ExAC_OTH=0.1707;ExAC_SAS=0.2686;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:431,0,473 1 104256478 rs167447 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001346780,NM_001346780;GeneDetail=dist\x3e17402\x3bdist\x3e35798;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.996783\x3bName\x3echr1:103619305;Repeat=.;avsnp150=rs167447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.2853;1000g2015aug_all=0.397165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 104470005 rs7550463 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001346780,NR_033990;GeneDetail=dist\x3e168691\x3bdist\x3e145640;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.893228\x3bName\x3echrX:93221835;Repeat=.;avsnp150=rs7550463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.9856;1000g2015aug_all=0.955871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 104788814 rs12406466 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e169121\x3bdist\x3e1343502;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2595\x3bName\x3e"216792:AluY(SINE)";avsnp150=rs12406466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.593;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.6614;1000g2015aug_all=0.496006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 104796131 rs7412223 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e176438\x3bdist\x3e1336185;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7412223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.9856;1000g2015aug_all=0.966054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 104805447 rs4387189 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e185754\x3bdist\x3e1326869;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7762\x3bName\x3e"216828:LTR13(LTR)";avsnp150=rs4387189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.8718;1000g2015aug_all=0.815495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 104958452 rs2020348 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e338759\x3bdist\x3e1173864;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2386\x3bName\x3e"217032:THE1B(LTR)";avsnp150=rs2020348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.9611;1000g2015aug_all=0.972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 105121479 rs7523774 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e501786\x3bdist\x3e1010837;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30116\x3bName\x3e"217273:HERVL-int(LTR)";avsnp150=rs7523774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.592;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.389;1000g2015aug_all=0.488019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 105121581 rs12040155 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e501888\x3bdist\x3e1010735;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30116\x3bName\x3e"217273:HERVL-int(LTR)";avsnp150=rs12040155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.592;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.389;1000g2015aug_all=0.488019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 105771391 rs10785740 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1151698\x3bdist\x3e360925;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1925\x3bName\x3e"218261:THE1B(LTR)";avsnp150=rs10785740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 105796736 rs2809330 C T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1177043\x3bdist\x3e335580;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16763\x3bName\x3e"218301:L1MA1(LINE)";avsnp150=rs2809330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.2277;1000g2015aug_all=0.241014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 105796743 rs2653955 A T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1177050\x3bdist\x3e335573;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16763\x3bName\x3e"218301:L1MA1(LINE)";avsnp150=rs2653955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.2277;1000g2015aug_all=0.241014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 105980424 rs59330891 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1360731\x3bdist\x3e151892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6916\x3bName\x3e"218601:MER52A(LTR)";avsnp150=rs59330891;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.4049;1000g2015aug_all=0.47484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 106096085 rs4357578 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1476392\x3bdist\x3e36231;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2513\x3bName\x3e"218782:AluY(SINE)";avsnp150=rs4357578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.9821;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.9741;1000g2015aug_all=0.869409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 106096131 rs1850245 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033990,NR_125955;GeneDetail=dist\x3e1476438\x3bdist\x3e36185;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2513\x3bName\x3e"218782:AluY(SINE)";avsnp150=rs1850245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.5259;1000g2015aug_all=0.483826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 106434318 rs72691646 T A 1430.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=4.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125955,NR_146609;GeneDetail=dist\x3e272761\x3bdist\x3e35928;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.945005\x3bName\x3echr5:139307236;Repeat=.;avsnp150=rs72691646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2045;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.1542;1000g2015aug_all=0.191494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1459,99,0 1 106434319 rs72691647 T A 1430.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=4.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125955,NR_146609;GeneDetail=dist\x3e272762\x3bdist\x3e35927;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.945005\x3bName\x3echr5:139307236;Repeat=.;avsnp150=rs72691647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.1427;1000g2015aug_all=0.144569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1459,99,0 1 106435109 rs12753157 A T 419.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125955,NR_146609;GeneDetail=dist\x3e273552\x3bdist\x3e35137;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=Score\x3e0.945005\x3bName\x3echr5:139307236;Repeat=.;avsnp150=rs12753157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1441;1000g2015aug_all=0.142572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:448,42,0 1 106623632 rs772778648 C T 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.742;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.436;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146609,NR_147165;GeneDetail=dist\x3e52757\x3bdist\x3e737229;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437803.1;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs772778648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:325,0,363 1 106662500 rs515091 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146609,NR_147165;GeneDetail=dist\x3e91625\x3bdist\x3e698361;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p21.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2262\x3bName\x3e"219674:AluY(SINE)";avsnp150=rs515091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9612;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.9726;1000g2015aug_all=0.961661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 107946262 rs12126267 G A 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.14;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.142;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370066.5,ENST00000370067.5,ENST00000370071.6,ENST00000370065.1,ENST00000370073.6,ENST00000370068.5,ENST00000370074.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2163\x3bName\x3e"221757:AluSx(SINE)";avsnp150=rs12126267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.498;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.4438;1000g2015aug_all=0.417931;esp6500siv2_all=.;ExAC_ALL=0.6667;ExAC_AFR=0.5;ExAC_AMR=.;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=0.5;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:301,0,426 1 107966962 rs583169 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370066.5,ENST00000370067.5,ENST00000370071.6,ENST00000370065.1,ENST00000370073.6,ENST00000370068.5,ENST00000370074.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1472\x3bName\x3e"221778:L2a(LINE)";avsnp150=rs583169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.7493;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 107979396 rs480392 A C 1457.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=exonic;Gene=NM_001113226,NM_001312688;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NTNG1:NM_001113226:exon6:c.A1365C:p.G455G,NTNG1:NM_001312688:exon7:c.A1263C:p.G421G;Gencode=Name\x3eENST00000370066.5,ENST00000370071.6,ENST00000370067.5,ENST00000370073.6,ENST00000370065.1,ENST00000370074.8,ENST00000370068.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs480392;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.987;1000g2015aug_all=0.95028;esp6500siv2_all=0.9547;ExAC_ALL=0.9858;ExAC_AFR=0.8399;ExAC_AMR=0.9919;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9933;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1486,141,0 1 107982788 rs12095462 A C 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370074.8,ENST00000370068.5,ENST00000370073.6,ENST00000370065.1,ENST00000370071.6,ENST00000370067.5,ENST00000370066.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12095462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.2896;1000g2015aug_all=0.264776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 108002764 rs488747 C A 176.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370074.8,ENST00000370068.5,ENST00000370073.6,ENST00000370065.1,ENST00000370071.6,ENST00000370067.5,ENST00000370066.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs488747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.885;1000g2015aug_amr=0.9899;1000g2015aug_all=0.968251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:205,15,0 1 108011589 rs11185120 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370066.5,ENST00000370071.6,ENST00000370067.5,ENST00000370073.6,ENST00000370065.1,ENST00000370074.8,ENST00000370068.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2391\x3bName\x3e"221834:AluSg(SINE)";avsnp150=rs11185120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.3213;1000g2015aug_all=0.378794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 108011590 rs4915044 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTNG1;Func=intronic;Gene=NM_001113226,NM_001113228,NM_001312688,NM_001330665,NM_014917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370071.6,ENST00000370067.5,ENST00000370066.5,ENST00000370074.8,ENST00000370068.5,ENST00000370073.6,ENST00000370065.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2391\x3bName\x3e"221834:AluSg(SINE)";avsnp150=rs4915044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.8343;1000g2015aug_all=0.694489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 108116051 rs17236099 G A 775.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.005;DP=56;ExcessHet=3.0103;FS=8.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.09;SOR=0.158;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_001079874,NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000415432.6,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17236099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.0318;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0391374;esp6500siv2_all=0.0462;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,29:56:99:804,0,852 1 108152148 rs4518927 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_001079874,NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000415432.6,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e820\x3bName\x3e"222066:FRAM(SINE)";avsnp150=rs4518927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1151;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.053;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0726837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 108152630 rs2296877 G T 306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.5;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.524;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_001079874,NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415432.6,ENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.2565;1000g2015aug_all=0.21845;esp6500siv2_all=0.1601;ExAC_ALL=0.1869;ExAC_AFR=0.1721;ExAC_AMR=0.2731;ExAC_EAS=0.3408;ExAC_FIN=0.1804;ExAC_NFE=0.1530;ExAC_OTH=0.1781;ExAC_SAS=0.1954;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:335,0,327 1 108159973 rs11185145 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_001079874,NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5,ENST00000415432.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11185145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.2493;1000g2015aug_all=0.239217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 108247048 rs2494070 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.2939;1000g2015aug_all=0.357029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 108292260 rs6672483 A G 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.276;DP=23;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=0.315;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.8098;1000g2015aug_all=0.77476;esp6500siv2_all=0.6313;ExAC_ALL=0.7028;ExAC_AFR=0.6867;ExAC_AMR=0.8532;ExAC_EAS=0.9788;ExAC_FIN=0.6268;ExAC_NFE=0.6203;ExAC_OTH=0.7102;ExAC_SAS=0.8228;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:205,0,345 1 108299674 rs12049477 C A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12049477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.1902;1000g2015aug_all=0.227037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,113 1 108299809 rs12138353 G A 637.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.699;DP=30;ExcessHet=3.0103;FS=7.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.26;ReadPosRankSum=0.948;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e42\x3bName\x3e"222266:(TG)n(Simple_repeat)";avsnp150=rs12138353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3641;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.5375;1000g2015aug_all=0.494609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:675,0,491 1 108300141 rs11808011 T C 130.96 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.19;ReadPosRankSum=0.842;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11808011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.377;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.2522;1000g2015aug_all=0.291733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,4:5:5:158,5,0 1 108303686 rs7417283 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.7863;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.6182;1000g2015aug_all=0.681709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 108307642 rs7514025 C T 612.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.593;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.6268;1000g2015aug_all=0.688898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:641,51,0 1 108307727 rs7528153 T A 1019.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.33;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=exonic;Gene=NM_006113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=VAV3:NM_006113:exon9:c.A892T:p.T298S;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.5862;1000g2015aug_amr=0.4251;1000g2015aug_all=0.507788;esp6500siv2_all=0.6676;ExAC_ALL=0.5883;ExAC_AFR=0.6034;ExAC_AMR=0.3551;ExAC_EAS=0.3820;ExAC_FIN=0.6806;ExAC_NFE=0.6906;ExAC_OTH=0.5806;ExAC_SAS=0.4002;SIFT_score=0.616;SIFT_pred=T;Polyphen2_HDIV_score=0.566;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.338;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.235;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_pred=T;phyloP100way_vertebrate=0.851;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=6.565;gerp++gt2=4.5;CADD=1.178;CADD_Phred=11.63;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1048,108,0 1 108315256 rs7416884 G C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7416884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.2602;1000g2015aug_amr=0.1888;1000g2015aug_all=0.214856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 108315305 rs4611048 C T 628.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4611048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.9813;1000g2015aug_all=0.955471;esp6500siv2_all=0.9619;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:657,57,0 1 108416420 rs423488 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000527011.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs423488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.8211;1000g2015aug_eur=0.828;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.853;1000g2015aug_all=0.870208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 108416421 rs439278 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3;Func=intronic;Gene=NM_006113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527011.5,ENST00000370056.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs439278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.4357;1000g2015aug_amr=0.1239;1000g2015aug_all=0.240016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 108507636 rs345269 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.3;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAV3-AS1;Func=ncRNA_intronic;Gene=NR_046653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370056.8,ENST00000438318.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs345269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.547;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.732;1000g2015aug_all=0.558706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 108550744 rs57790291 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e13515\x3bdist\x3e126600;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57790291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.2968;1000g2015aug_all=0.265775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 108563562 rs12081582 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e26333\x3bdist\x3e113782;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs12081582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.3487;1000g2015aug_amr=0.2983;1000g2015aug_all=0.282548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 108563597 rs11185231 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e26368\x3bdist\x3e113747;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs11185231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 108563661 rs11185232 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e26432\x3bdist\x3e113683;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs11185232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 108563710 rs11185233 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e26481\x3bdist\x3e113634;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs11185233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 108564306 rs11185236 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e27077\x3bdist\x3e113038;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs11185236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 108564329 rs11185237 G T 101.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e27100\x3bdist\x3e113015;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13199\x3bName\x3e"222690:HERVL-int(LTR)";avsnp150=rs11185237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:129,9,0 1 108564502 rs11185238 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046653,NM_013386;GeneDetail=dist\x3e27273\x3bdist\x3e112842;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9820\x3bName\x3e"222691:HERVL-int(LTR)";avsnp150=rs11185238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.351;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 108679151 rs17021096 A G 93.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.368;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=UTR3;Gene=NM_013386,NM_213651;GeneDetail=NM_013386:c.*124T>C\x3bNM_213651:c.*124T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000565488.5,ENST00000370041.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17021096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:122,0,104 1 108695533 rs11584525 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.134;1000g2015aug_all=0.105032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 108695540 rs6663170 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.6581;1000g2015aug_amr=0.3905;1000g2015aug_all=0.506989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 108697845 rs7555964 C G 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.047;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-1.273;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.3905;1000g2015aug_all=0.509185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,351 1 108724518 rs490680 A G 618.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.396;DP=39;ExcessHet=3.0103;FS=4.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-1.155;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs490680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.5591;1000g2015aug_all=0.688299;esp6500siv2_all=0.7433;ExAC_ALL=0.6718;ExAC_AFR=0.8644;ExAC_AMR=0.6007;ExAC_EAS=0.6737;ExAC_FIN=0.6250;ExAC_NFE=0.6881;ExAC_OTH=0.6581;ExAC_SAS=0.5524;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,24:39:99:647,0,305 1 108724693 rs491785 G A 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-1.611;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e182\x3bName\x3e"223001:MIR3(SINE)";avsnp150=rs491785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.5591;1000g2015aug_all=0.688299;esp6500siv2_all=0.7454;ExAC_ALL=0.6709;ExAC_AFR=0.8635;ExAC_AMR=0.5994;ExAC_EAS=0.6757;ExAC_FIN=0.6274;ExAC_NFE=0.6890;ExAC_OTH=0.6586;ExAC_SAS=0.5544;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 108724766 rs492601 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=intronic;Gene=NM_013386,NM_213651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000565488.5,ENST00000370041.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs492601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.5591;1000g2015aug_all=0.688299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 108735383 rs41278472 C T 343.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=UTR5;Gene=NM_213651;GeneDetail=NM_213651:c.-140G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370041.4,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41278472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0461262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:372,30,0 1 108742952 rs2840307 G T 261.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A24;Func=UTR5;Gene=NM_013386;GeneDetail=NM_013386:c.-192C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000564063.1,ENST00000569674.1,ENST00000565488.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.4914;1000g2015aug_all=0.349441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:290,21,0 1 108766133 rs3870737 A G 123.85 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.91;MQRankSum=1.282;QD=24.77;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF4;Func=UTR3;Gene=NM_001143989;GeneDetail=NM_001143989:c.*194T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415641.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.996537\x3bName\x3echr1:108383726;Repeat=.;avsnp150=rs3870737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.5778;1000g2015aug_all=0.444089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:17:152,0,17 1 108766319 rs200834655 A T 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.116;DP=39;ExcessHet=3.0103;FS=2.78;MLEAC=1;MLEAF=0.5;MQ=57.22;MQRankSum=0.569;QD=12.71;ReadPosRankSum=0.761;SOR=0.858;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF4;Func=UTR3;Gene=NM_001143989;GeneDetail=NM_001143989:c.*8T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415641.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.996537\x3bName\x3echr1:108383726;Repeat=.;avsnp150=rs200834655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0018;ExAC_ALL=0.0019;ExAC_AFR=0.0010;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0.0035;ExAC_NFE=0.0031;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:524,0,431 1 108766424 rs3879436 A G 747.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.94;QD=31.16;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF4;Func=intronic;Gene=NM_001143989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415641.7,ENST00000613157.2;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.996537\x3bName\x3echr1:108383726;Repeat=.;avsnp150=rs3879436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.5677;1000g2015aug_all=0.404553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:776,72,0 1 109010455 rs2260492 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.911;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.05;MQRankSum=-3.091;QD=3.1;ReadPosRankSum=-2.327;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF6;Func=intronic;Gene=NM_001143987,NM_001143988;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495380.6,ENST00000370040.7,ENST00000444143.6,ENST00000294652.12;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.996537\x3bName\x3echr1:108221620;Repeat=.;avsnp150=rs2260492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:81:81,0,468 1 109013458 rs2992768 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001143987,NM_001143988;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444143.6,ENST00000294652.12,ENST00000495380.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.996537\x3bName\x3echr1:108221620;Repeat=.;avsnp150=rs2992768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=0.91;1000g2015aug_eur=0.8131;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.9063;1000g2015aug_all=0.909944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 109155144 rs904330 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM102B;Func=intronic;Gene=NM_001010883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000405454.1,ENST00000370035.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs904330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.9642;1000g2015aug_eur=1;1000g2015aug_afr=0.8684;1000g2015aug_amr=0.9957;1000g2015aug_all=0.944688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109156284 rs943806 C T 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM102B;Func=intronic;Gene=NM_001010883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000405454.1,ENST00000370035.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1144\x3bName\x3e"223692:L2(LINE)";avsnp150=rs943806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.9986;1000g2015aug_all=0.98742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 109170746 rs2133198 C T 1349.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM102B;Func=intronic;Gene=NM_001010883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370035.7,ENST00000405454.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2133198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.7925;1000g2015aug_all=0.746206;esp6500siv2_all=0.8115;ExAC_ALL=0.8688;ExAC_AFR=0.5600;ExAC_AMR=0.8157;ExAC_EAS=0.7677;ExAC_FIN=0.9674;ExAC_NFE=0.9350;ExAC_OTH=0.9060;ExAC_SAS=0.8427;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1378,114,0 1 109172593 rs4617435 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM102B;Func=intronic;Gene=NM_001010883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000405454.1,ENST00000370035.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4617435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9986;1000g2015aug_all=0.988219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 109184298 rs12725957 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001010883,NM_144584;GeneDetail=dist\x3e2349\x3bdist\x3e6612;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000405454.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4033\x3bName\x3e"223743:L1MA3(LINE)";avsnp150=rs12725957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9644;1000g2015aug_amr=1;1000g2015aug_all=0.990615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 109192118 rs546501226 G A 89.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0.524;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHENMT1;Func=intronic;Gene=NM_001102592,NM_144584;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370032.9,ENST00000370031.5,ENST00000402983.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1762\x3bName\x3e"223756:AluJr4(SINE)";avsnp150=rs546501226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:118,0,27 1 109241669 rs2297563 G A 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.703;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRPF38B;Func=intronic;Gene=NM_001349757,NM_001349758,NM_001349759,NM_001349761,NM_001349762,NM_001349763,NM_001349764,NM_001349765,NM_001349766,NM_001349767,NM_001349768,NM_001349769,NM_001349770,NM_001349771,NM_018061;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370021.1,ENST00000370025.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.2032;1000g2015aug_all=0.174321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,151 1 109255513 rs3006864 G T 1516.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.562;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.9703;1000g2015aug_eur=0.9851;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.9654;1000g2015aug_all=0.863618;esp6500siv2_all=0.8885;ExAC_ALL=0.9335;ExAC_AFR=0.6327;ExAC_AMR=0.9610;ExAC_EAS=0.8891;ExAC_FIN=1;ExAC_NFE=0.9801;ExAC_OTH=0.9583;ExAC_SAS=0.9666;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1545,144,0 1 109260181 rs914806 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs914806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.9354;1000g2015aug_afr=0.4395;1000g2015aug_amr=0.9294;1000g2015aug_all=0.785343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109260357 rs4970804 G A 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.927;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.747;SOR=1.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.6816;1000g2015aug_all=0.585064;esp6500siv2_all=0.5350;ExAC_ALL=0.6178;ExAC_AFR=0.2990;ExAC_AMR=0.6575;ExAC_EAS=0.8311;ExAC_FIN=0.7136;ExAC_NFE=0.6324;ExAC_OTH=0.6723;ExAC_SAS=0.6483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:502,0,468 1 109265326 rs4970743 G C 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.18;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.6844;1000g2015aug_all=0.597244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:100,0,133 1 109268573 rs4494160 T C 2185.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=0.899;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=exonic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FNDC7:NM_001144937:exon6:c.T1058C:p.V353A;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4494160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.5346;1000g2015aug_all=0.592851;esp6500siv2_all=0.7391;ExAC_ALL=0.6521;ExAC_AFR=0.7941;ExAC_AMR=0.5341;ExAC_EAS=0.2349;ExAC_FIN=0.6808;ExAC_NFE=0.7104;ExAC_OTH=0.6476;ExAC_SAS=0.6170;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-3.005;MutationAssessor_pred=N;FATHMM_score=2.24;FATHMM_pred=T;phyloP100way_vertebrate=5.688;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=15.621;gerp++gt2=6.05;CADD=1.527;CADD_Phred=13.46;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2214,186,0 1 109270402 rs10494096 G A 1316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.743;DP=98;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.228;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.3213;1000g2015aug_all=0.329073;esp6500siv2_all=0.4114;ExAC_ALL=0.4333;ExAC_AFR=0.2665;ExAC_AMR=0.3650;ExAC_EAS=0.1923;ExAC_FIN=0.5064;ExAC_NFE=0.4853;ExAC_OTH=0.4233;ExAC_SAS=0.4779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,46:98:99:1345,0,1481 1 109271674 rs55891684 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55891684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.1009;1000g2015aug_all=0.133187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 109273456 rs4970809 A G 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.693;DP=36;ExcessHet=3.0103;FS=1.399;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.396;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=exonic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FNDC7:NM_001144937:exon9:c.A1785G:p.G595G;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.5388;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.4352;1000g2015aug_all=0.45028;esp6500siv2_all=0.5506;ExAC_ALL=0.4934;ExAC_AFR=0.5732;ExAC_AMR=0.4565;ExAC_EAS=0.2091;ExAC_FIN=0.4980;ExAC_NFE=0.5318;ExAC_OTH=0.4835;ExAC_SAS=0.4613;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:541,0,507 1 109273610 rs4970810 G A 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.545;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFNDC7;Func=intronic;Gene=NM_001144937;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370017.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.4352;1000g2015aug_all=0.450879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,143 1 109289353 rs1124427 C G 172.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=UTR5;Gene=NM_007269;GeneDetail=NM_007269:c.-7C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1124427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.7012;1000g2015aug_amr=0.5173;1000g2015aug_all=0.573083;esp6500siv2_all=0.7721;ExAC_ALL=0.6849;ExAC_AFR=0.6997;ExAC_AMR=0.6047;ExAC_EAS=0.2333;ExAC_FIN=0.6136;ExAC_NFE=0.7511;ExAC_OTH=0.6327;ExAC_SAS=0.6497;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:201,15,0 1 109289487 rs6604120 C T 434.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6604120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.7012;1000g2015aug_amr=0.5173;1000g2015aug_all=0.572684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:463,36,0 1 109299453 rs1277044 C G 412.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1277044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.708;1000g2015aug_amr=0.5216;1000g2015aug_all=0.575679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:441,39,0 1 109315211 rs1623641 A G 429.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1623641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.5216;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:458,33,0 1 109318805 rs1759479 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e423\x3bName\x3e"224019:L1ME3Cz(LINE)";avsnp150=rs1759479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.5274;1000g2015aug_all=0.600839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109321824 rs1759481 G T 855.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1759481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.708;1000g2015aug_amr=0.5216;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:884,66,0 1 109338861 rs1127635 G C 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.994;DP=46;ExcessHet=3.0103;FS=5.495;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.1;ReadPosRankSum=1.675;SOR=1.819;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=exonic;Gene=NM_007269;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=STXBP3:NM_007269:exon14:c.G1116C:p.L372L;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1127635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.3213;1000g2015aug_all=0.329473;esp6500siv2_all=0.3962;ExAC_ALL=0.3948;ExAC_AFR=0.2955;ExAC_AMR=0.3502;ExAC_EAS=0.2001;ExAC_FIN=0.4082;ExAC_NFE=0.4353;ExAC_OTH=0.3907;ExAC_SAS=0.4214;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,11:46:99:263,0,877 1 109349613 rs1303465 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2388\x3bName\x3e"224091:AluSg(SINE)";avsnp150=rs1303465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.8862;1000g2015aug_all=0.83726;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 109350260 rs61797352 G A 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.312;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2515\x3bName\x3e"224092:AluSq2(SINE)";avsnp150=rs61797352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.062;1000g2015aug_all=0.0371406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:182,0,299 1 109350284 rs61797353 C T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=1.51;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTXBP3;Func=intronic;Gene=NM_007269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370008.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2515\x3bName\x3e"224092:AluSq2(SINE)";avsnp150=rs61797353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0367412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:99:108,0,266 1 109365781 rs61797355 C T 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.187;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.368;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369994.5,ENST00000370001.7,ENST00000369995.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61797355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0634;1000g2015aug_all=0.023762;esp6500siv2_all=.;ExAC_ALL=0.0404;ExAC_AFR=0.0135;ExAC_AMR=0.0683;ExAC_EAS=0.0015;ExAC_FIN=0.0563;ExAC_NFE=0.0688;ExAC_OTH=0.0560;ExAC_SAS=0.0113;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,30:60:99:900,0,890 1 109366286 rs7522157 C T 1002.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.909;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.034;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=exonic;Gene=NM_152763;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKNAD1:NM_152763:exon12:c.G1961A:p.C654Y;Gencode=Name\x3eENST00000369994.5,ENST00000369995.7,ENST00000370001.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"224122:(CAGAAT)n(Simple_repeat)";avsnp150=rs7522157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1121;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.1787;1000g2015aug_all=0.165735;esp6500siv2_all=0.2445;ExAC_ALL=0.2553;ExAC_AFR=0.1038;ExAC_AMR=0.1697;ExAC_EAS=0.1199;ExAC_FIN=0.3094;ExAC_NFE=0.3121;ExAC_OTH=0.2621;ExAC_SAS=0.2304;SIFT_score=0.332;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.817;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=2.24;FATHMM_pred=T;phyloP100way_vertebrate=-1.736;phyloP20way_mammalian=-0.882;SiPhy_29way_logOdds=6.516;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,41:102:99:1031,0,1491 1 109366370 rs7522260 C T 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.03;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.016;SOR=0.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370001.7,ENST00000369995.7,ENST00000369994.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3562;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.659;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.513;1000g2015aug_all=0.472045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,49:107:99:1190,0,1566 1 109366554 rs7529592 T C 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-1.213;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369995.7,ENST00000370001.7,ENST00000369994.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e182\x3bName\x3e"224123:L2b(LINE)";avsnp150=rs7529592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0744;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.1009;1000g2015aug_all=0.0621006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,262 1 109369797 rs11102506 T G 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.521;DP=13;ExcessHet=3.0103;FS=4.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=0.564;SOR=0.074;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369995.7,ENST00000370001.7,ENST00000369994.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11102506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.536;1000g2015aug_all=0.507188;esp6500siv2_all=0.6258;ExAC_ALL=0.5618;ExAC_AFR=0.6342;ExAC_AMR=0.4919;ExAC_EAS=0.2704;ExAC_FIN=0.5172;ExAC_NFE=0.6160;ExAC_OTH=0.5754;ExAC_SAS=0.5148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:121,0,296 1 109369915 rs7551421 G T 131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.905;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=-0.515;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=exonic;Gene=NM_152763;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKNAD1:NM_152763:exon11:c.C1848A:p.N616K;Gencode=Name\x3eENST00000369994.5,ENST00000370001.7,ENST00000369995.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.5288;1000g2015aug_all=0.503195;esp6500siv2_all=0.6150;ExAC_ALL=0.5516;ExAC_AFR=0.6308;ExAC_AMR=0.4883;ExAC_EAS=0.2709;ExAC_FIN=0.4921;ExAC_NFE=0.6021;ExAC_OTH=0.5608;ExAC_SAS=0.5112;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.907;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.52;FATHMM_pred=T;phyloP100way_vertebrate=-1.351;phyloP20way_mammalian=-1.461;SiPhy_29way_logOdds=2.307;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,9:27:99:160,0,467 1 109372876 rs1277222 G A 1303.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369994.5,ENST00000370001.7,ENST00000369995.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e399\x3bName\x3e"224138:MER5B(DNA)";avsnp150=rs1277222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.672;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.6816;1000g2015aug_all=0.664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1332,108,0 1 109372968 rs1277221 T G 2437.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369995.7,ENST00000370001.7,ENST00000369994.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e399\x3bName\x3e"224138:MER5B(DNA)";avsnp150=rs1277221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.6859;1000g2015aug_all=0.666933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2466,228,0 1 109373320 rs200960053 A G 748.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.154;DP=51;ExcessHet=3.0103;FS=5.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.65;SOR=1.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369994.5,ENST00000370001.7,ENST00000369995.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200960053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000399361;esp6500siv2_all=0.0027;ExAC_ALL=0.0021;ExAC_AFR=0.0010;ExAC_AMR=0.0010;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0032;ExAC_OTH=0.0011;ExAC_SAS=0.0010;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:777,0,806 1 109373446 rs1277220 G A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369994.5,ENST00000370001.7,ENST00000369995.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1277220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.7968;1000g2015aug_all=0.798123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 109391486 rs1149142 G A 946.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=2.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=intronic;Gene=NM_152763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369994.5,ENST00000357393.5,ENST00000369995.7,ENST00000370001.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1149142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988618;esp6500siv2_all=0.9878;ExAC_ALL=0.9967;ExAC_AFR=0.9618;ExAC_AMR=0.9989;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:975,84,0 1 109395105 rs1277207 C T 625.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.796;DP=44;ExcessHet=3.0103;FS=2.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.707;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAKNAD1;Func=exonic;Gene=NM_152763;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AKNAD1:NM_152763:exon2:c.G182A:p.S61N;Gencode=Name\x3eENST00000369995.7,ENST00000370001.7,ENST00000369994.5,ENST00000357393.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1277207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.879;1000g2015aug_all=0.867013;esp6500siv2_all=0.8332;ExAC_ALL=0.8324;ExAC_AFR=0.8719;ExAC_AMR=0.8600;ExAC_EAS=0.9383;ExAC_FIN=0.8233;ExAC_NFE=0.8097;ExAC_OTH=0.8095;ExAC_SAS=0.8295;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=3.24;FATHMM_pred=T;phyloP100way_vertebrate=-0.070;phyloP20way_mammalian=-0.819;SiPhy_29way_logOdds=6.609;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:654,0,562 1 109428249 rs10857987 G A 93.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.922;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=-1.641;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357393.5,ENST00000264126.7,ENST00000406462.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10857987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0546;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.2118;1000g2015aug_all=0.298323;esp6500siv2_all=0.3596;ExAC_ALL=0.2828;ExAC_AFR=0.5240;ExAC_AMR=0.2182;ExAC_EAS=0.0577;ExAC_FIN=0.3004;ExAC_NFE=0.2887;ExAC_OTH=0.3102;ExAC_SAS=0.2620;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:122,0,251 1 109456850 rs1664419 G A 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.37;ReadPosRankSum=1.271;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406462.6,ENST00000264126.7,ENST00000357393.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1664419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.1527;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:345,0,86 1 109460963 rs338470 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406462.6,ENST00000357393.5,ENST00000264126.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs338470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.6241;1000g2015aug_amr=0.2118;1000g2015aug_all=0.316294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 109461109 rs559666003 T A 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.326;DP=21;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.636;SOR=2.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406462.6,ENST00000357393.5,ENST00000264126.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs559666003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:304,0,404 1 109466858 rs705268 G A 916.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.603;DP=78;ExcessHet=3.0103;FS=6.002;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.879;SOR=0.221;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406462.6,ENST00000264126.7,ENST00000357393.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.1542;1000g2015aug_all=0.270367;esp6500siv2_all=0.3473;ExAC_ALL=0.2824;ExAC_AFR=0.5859;ExAC_AMR=0.1574;ExAC_EAS=0.0283;ExAC_FIN=0.2866;ExAC_NFE=0.2944;ExAC_OTH=0.3;ExAC_SAS=0.1994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,35:78:99:945,0,1355 1 109467080 rs9661361 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPSM2;Func=intronic;Gene=NM_001321038,NM_001321039,NM_013296;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264126.7,ENST00000357393.5,ENST00000406462.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2699\x3bName\x3e"224361:L2a(LINE)";avsnp150=rs9661361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0188;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0692891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109473527 rs12743716 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=UTR3;Gene=NM_001048210,NM_001278202,NM_001278203,NM_015127;GeneDetail=NM_001048210:c.*1642G>A\x3bNM_001278202:c.*1642G>A\x3bNM_001278203:c.*1642G>A\x3bNM_015127:c.*1642G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369976.5,ENST00000406462.6,ENST00000369968.6,ENST00000357393.5,ENST00000369969.6,ENST00000356970.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1923\x3bName\x3e"224370:AluJr(SINE)";avsnp150=rs12743716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.2161;1000g2015aug_all=0.308906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 109474221 rs1769740 C T 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.679;DP=29;ExcessHet=3.0103;FS=6.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.57;SOR=2.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=UTR3;Gene=NM_001048210,NM_001278202,NM_001278203,NM_001321039,NM_015127;GeneDetail=NM_001048210:c.*948G>A\x3bNM_001278202:c.*948G>A\x3bNM_001278203:c.*948G>A\x3bNM_001321039:c.*322C>T\x3bNM_015127:c.*948G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406462.6,ENST00000369968.6,ENST00000369976.5,ENST00000356970.6,ENST00000369969.6,ENST00000357393.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1769740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.2161;1000g2015aug_all=0.309305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:344,0,414 1 109477653 rs839850 G A 691.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.726;DP=49;ExcessHet=3.0103;FS=2.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.531;SOR=0.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=intronic;Gene=NM_001048210,NM_001278202,NM_001278203,NM_015127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369976.5,ENST00000302500.4,ENST00000369968.6,ENST00000369970.7,ENST00000357393.5,ENST00000348264.6,ENST00000369969.6,ENST00000356970.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.2161;1000g2015aug_all=0.308307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,26:49:99:720,0,580 1 109479978 rs168107 G T 741.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.204;DP=58;ExcessHet=3.0103;FS=2.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.681;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=exonic;Gene=NM_001048210,NM_001278202,NM_001278203,NM_015127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CLCC1:NM_001278203:exon5:c.C549A:p.S183R,CLCC1:NM_001278202:exon7:c.C741A:p.S247R,CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R;Gencode=Name\x3eENST00000357393.5,ENST00000369970.7,ENST00000348264.6,ENST00000356970.6,ENST00000369969.6,ENST00000369976.5,ENST00000302500.4,ENST00000369968.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs168107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.2147;1000g2015aug_all=0.307109;esp6500siv2_all=0.3676;ExAC_ALL=0.2782;ExAC_AFR=0.5754;ExAC_AMR=0.2190;ExAC_EAS=0.0372;ExAC_FIN=0.2875;ExAC_NFE=0.2772;ExAC_OTH=0.3013;ExAC_SAS=0.2594;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-2.15;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=0.426;phyloP20way_mammalian=0.152;SiPhy_29way_logOdds=8.446;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,30:58:99:770,0,725 1 109486196 rs338466 A G 1787.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=exonic;Gene=NM_001048210,NM_015127;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T;Gencode=Name\x3eENST00000369970.7,ENST00000357393.5,ENST00000369969.6,ENST00000348264.6,ENST00000356970.6,ENST00000302500.4,ENST00000369976.5,ENST00000369968.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs338466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.5101;1000g2015aug_all=0.538339;esp6500siv2_all=0.5948;ExAC_ALL=0.5287;ExAC_AFR=0.7259;ExAC_AMR=0.5585;ExAC_EAS=0.4057;ExAC_FIN=0.4854;ExAC_NFE=0.5305;ExAC_OTH=0.5430;ExAC_SAS=0.4572;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1816,174,0 1 109490457 rs839543 T C 851.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=intronic;Gene=NM_001048210,NM_001278202,NM_001278203,NM_015127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302500.4,ENST00000369976.5,ENST00000369968.6,ENST00000369970.7,ENST00000357393.5,ENST00000369969.6,ENST00000348264.6,ENST00000356970.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs839543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.702;1000g2015aug_amr=0.5187;1000g2015aug_all=0.526757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:880,75,0 1 109505835 rs144654804 G T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLCC1;Func=intronic;Gene=NM_001048210,NM_015127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357393.5,ENST00000356970.6,ENST00000369976.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144654804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.0398;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0115815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 109516641 rs489794 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361054.7,ENST00000357672.7,ENST00000400794.7,ENST00000369965.8,ENST00000369962.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"224478:AluJo(SINE)";avsnp150=rs489794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.7911;1000g2015aug_all=0.761182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 109516719 rs551065 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400794.7,ENST00000369962.7,ENST00000369965.8,ENST00000361054.7,ENST00000357672.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"224478:AluJo(SINE)";avsnp150=rs551065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.2709;1000g2015aug_all=0.208067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109517459 rs12126469 T C 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-1.063;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369965.8,ENST00000369962.7,ENST00000400794.7,ENST00000357672.7,ENST00000361054.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0527;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0211661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 109524584 rs487901 C A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.906;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361054.7,ENST00000357672.7,ENST00000369962.7,ENST00000369965.8,ENST00000400794.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1208\x3bName\x3e"224500:AluJo(SINE)";avsnp150=rs487901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.2536;1000g2015aug_all=0.185304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 109534940 rs337296 G A 515.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.73;QD=32.24;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369965.8,ENST00000369962.7,ENST00000400794.7,ENST00000357672.7,ENST00000361054.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs337296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9971;1000g2015aug_all=0.98143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:544,48,0 1 109545046 rs184606 C T 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR47;Func=intronic;Gene=NM_001142550,NM_001142551,NM_014969;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357672.7,ENST00000361054.7,ENST00000369962.7,ENST00000369965.8,ENST00000400794.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs184606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9971;1000g2015aug_all=0.98143;esp6500siv2_all=0.9833;ExAC_ALL=0.9934;ExAC_AFR=0.9386;ExAC_AMR=0.9965;ExAC_EAS=0.9998;ExAC_FIN=1;ExAC_NFE=0.9987;ExAC_OTH=0.9969;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 109596183 rs6657568 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001142550,NM_005645;GeneDetail=dist\x3e11333\x3bdist\x3e10815;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6788\x3bName\x3e"224696:SVA_B(Retroposon)";avsnp150=rs6657568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9971;1000g2015aug_all=0.971446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 109618257 rs673365 C T 1325.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=2.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF13;Func=intronic;Gene=NM_005645;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338366.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs673365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.9971;1000g2015aug_all=0.972045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1354,131,0 1 109635793 rs148940039 C T 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.411;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM167B;Func=intronic;Gene=NM_001322248,NM_020141;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338272.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148940039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0937;1000g2015aug_all=0.0269569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:171,0,297 1 109704390 rs643197 C G 1548.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=3.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs643197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9284;1000g2015aug_eur=1;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9957;1000g2015aug_all=0.970647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1577,126,0 1 109704618 rs678238 A G 2229.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_020775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1324:NM_001267048:exon2:c.A256G:p.I86V,KIAA1324:NM_020775:exon2:c.A256G:p.I86V;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs678238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.9986;1000g2015aug_all=0.995607;esp6500siv2_all=0.9955;ExAC_ALL=0.9987;ExAC_AFR=0.9868;ExAC_AMR=0.9995;ExAC_EAS=0.9986;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.991;MutationTaster_pred=P;MutationAssessor_score=-1.53;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;phyloP100way_vertebrate=3.325;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=11.459;gerp++gt2=5.55;CADD=1.286;CADD_Phred=12.20;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2258,216,0 1 109706880 rs647294 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1274\x3bName\x3e"225012:L1MB7(LINE)";avsnp150=rs647294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5149;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.549;1000g2015aug_all=0.513578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109727422 rs12239846 A G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.751;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12239846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.4327;1000g2015aug_amr=0.232;1000g2015aug_all=0.311901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,199 1 109727475 rs649531 T C 650.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=2.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs649531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.993;1000g2015aug_afr=0.5439;1000g2015aug_amr=0.951;1000g2015aug_all=0.871406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:679,57,0 1 109730511 rs116416309 T C 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.6;ReadPosRankSum=-1.242;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116416309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0585064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:225,0,59 1 109732080 rs603285 C T 128.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.701;DP=19;ExcessHet=3.0103;FS=7.613;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.676;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.7896;1000g2015aug_all=0.705072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:157,0,410 1 109734157 rs606066 T C 438.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.142;DP=29;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.875;SOR=0.394;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs606066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.4652;1000g2015aug_amr=0.8156;1000g2015aug_all=0.764377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:467,0,459 1 109734225 rs643785 G T 397.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=25;ExcessHet=3.0103;FS=3.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.763;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs643785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.804;1000g2015aug_all=0.73123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,12:25:99:426,0,468 1 109734541 rs645128 C T 1534.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs645128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.711;1000g2015aug_amr=0.8804;1000g2015aug_all=0.872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1563,138,0 1 109734809 rs115565334 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e403\x3bName\x3e"225077:L1ME4a(LINE)";avsnp150=rs115565334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0399;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0335463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109735298 rs658779 T C 425.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.46;DP=35;ExcessHet=3.0103;FS=1.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.284;SOR=0.96;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon7:c.T735C:p.G245G,KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_001284352:exon13:c.T1443C:p.G481G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs658779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.8055;1000g2015aug_all=0.741613;esp6500siv2_all=0.6365;ExAC_ALL=0.7832;ExAC_AFR=0.4133;ExAC_AMR=0.8772;ExAC_EAS=0.9992;ExAC_FIN=0.8412;ExAC_NFE=0.7595;ExAC_OTH=0.8007;ExAC_SAS=0.9089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:454,0,545 1 109735416 rs659543 A C 691.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.1;DP=52;ExcessHet=3.0103;FS=2.371;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.358;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.8055;1000g2015aug_all=0.740016;esp6500siv2_all=0.6363;ExAC_ALL=0.7829;ExAC_AFR=0.4139;ExAC_AMR=0.8775;ExAC_EAS=0.9975;ExAC_FIN=0.8412;ExAC_NFE=0.7595;ExAC_OTH=0.8002;ExAC_SAS=0.9060;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.368;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.865;MutationAssessor_pred=N;FATHMM_score=0.05;FATHMM_pred=T;phyloP100way_vertebrate=-1.509;phyloP20way_mammalian=-3.568;SiPhy_29way_logOdds=1.863;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:720,0,762 1 109735504 rs659659 T C 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.995;DP=25;ExcessHet=3.0103;FS=7.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-0.583;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.8055;1000g2015aug_all=0.741414;esp6500siv2_all=0.6366;ExAC_ALL=0.7835;ExAC_AFR=0.4133;ExAC_AMR=0.8775;ExAC_EAS=0.9975;ExAC_FIN=0.8415;ExAC_NFE=0.7600;ExAC_OTH=0.8016;ExAC_SAS=0.9097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,15:25:99:448,0,308 1 109737063 rs2359246 C T 546.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.543;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.95;SOR=0.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon8:c.C954T:p.N318N,KIAA1324:NM_001267048:exon13:c.C1707T:p.N569N,KIAA1324:NM_001284352:exon14:c.C1662T:p.N554N,KIAA1324:NM_020775:exon15:c.C1968T:p.N656N;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.3033;1000g2015aug_amr=0.7968;1000g2015aug_all=0.713658;esp6500siv2_all=0.6266;ExAC_ALL=0.7772;ExAC_AFR=0.3678;ExAC_AMR=0.8761;ExAC_EAS=0.9731;ExAC_FIN=0.8456;ExAC_NFE=0.7673;ExAC_OTH=0.7963;ExAC_SAS=0.8747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,20:43:99:575,0,593 1 109737090 rs2359245 G A 684.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.469;DP=53;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.57;SOR=1.144;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon8:c.G981A:p.P327P,KIAA1324:NM_001267048:exon13:c.G1734A:p.P578P,KIAA1324:NM_001284352:exon14:c.G1689A:p.P563P,KIAA1324:NM_020775:exon15:c.G1995A:p.P665P;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.7954;1000g2015aug_all=0.715256;esp6500siv2_all=0.6274;ExAC_ALL=0.7772;ExAC_AFR=0.3691;ExAC_AMR=0.8757;ExAC_EAS=0.9728;ExAC_FIN=0.8456;ExAC_NFE=0.7673;ExAC_OTH=0.7936;ExAC_SAS=0.8742;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,26:53:99:713,0,662 1 109737132 rs2359244 T C 1179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.032;DP=81;ExcessHet=3.0103;FS=0.839;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-1.007;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon8:c.T1023C:p.T341T,KIAA1324:NM_001267048:exon13:c.T1776C:p.T592T,KIAA1324:NM_001284352:exon14:c.T1731C:p.T577T,KIAA1324:NM_020775:exon15:c.T2037C:p.T679T;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.4667;1000g2015aug_amr=0.8127;1000g2015aug_all=0.766573;esp6500siv2_all=0.6680;ExAC_ALL=0.7948;ExAC_AFR=0.4916;ExAC_AMR=0.8828;ExAC_EAS=0.9731;ExAC_FIN=0.8456;ExAC_NFE=0.7693;ExAC_OTH=0.8024;ExAC_SAS=0.9129;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,42:81:99:1208,0,935 1 109737172 rs2359243 C T 1124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=82;ExcessHet=3.0103;FS=2.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.468;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon8:c.C1063T:p.L355L,KIAA1324:NM_001267048:exon13:c.C1816T:p.L606L,KIAA1324:NM_001284352:exon14:c.C1771T:p.L591L,KIAA1324:NM_020775:exon15:c.C2077T:p.L693L;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.7968;1000g2015aug_all=0.714058;esp6500siv2_all=0.6267;ExAC_ALL=0.7772;ExAC_AFR=0.3680;ExAC_AMR=0.8762;ExAC_EAS=0.9731;ExAC_FIN=0.8456;ExAC_NFE=0.7673;ExAC_OTH=0.7941;ExAC_SAS=0.8745;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,43:82:99:1153,0,996 1 109737314 rs2359242 T C 846.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=35;ExcessHet=3.0103;FS=4.163;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.19;ReadPosRankSum=-0.547;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.7939;1000g2015aug_all=0.715855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:875,0,717 1 109737320 rs2359241 G A 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.275;DP=34;ExcessHet=3.0103;FS=4.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.79;ReadPosRankSum=-0.94;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8947;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.7939;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,21:34:99:837,0,720 1 109740312 rs111949682 T A 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.132;DP=30;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=0.423;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32\x3bName\x3e"225085:(GT)n(Simple_repeat)";avsnp150=rs111949682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.2565;1000g2015aug_all=0.310903;esp6500siv2_all=.;ExAC_ALL=0.1493;ExAC_AFR=0.1324;ExAC_AMR=0.0950;ExAC_EAS=0.0232;ExAC_FIN=0.2217;ExAC_NFE=0.1675;ExAC_OTH=0.1463;ExAC_SAS=0.1448;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:176,0,1044 1 109740972 rs56903700 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.431;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56903700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.085;1000g2015aug_all=0.086262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 109741516 rs10858081 A C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10858081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.7443;1000g2015aug_amr=0.8991;1000g2015aug_all=0.88119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 109742452 rs913178 C T 423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.948;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.198;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs913178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.8055;1000g2015aug_all=0.757788;esp6500siv2_all=0.7005;ExAC_ALL=0.8027;ExAC_AFR=0.5138;ExAC_AMR=0.8630;ExAC_EAS=0.9677;ExAC_FIN=0.8544;ExAC_NFE=0.7941;ExAC_OTH=0.8062;ExAC_SAS=0.8688;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:452,0,541 1 109742485 rs913179 G A 857.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.067;DP=51;ExcessHet=3.0103;FS=2.148;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.434;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1324:NM_001284353:exon12:c.G1497A:p.S499S,KIAA1324:NM_001267048:exon17:c.G2250A:p.S750S,KIAA1324:NM_001284352:exon18:c.G2205A:p.S735S,KIAA1324:NM_020775:exon19:c.G2511A:p.S837S;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs913179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.8055;1000g2015aug_all=0.758786;esp6500siv2_all=0.7010;ExAC_ALL=0.8024;ExAC_AFR=0.5159;ExAC_AMR=0.8632;ExAC_EAS=0.9676;ExAC_FIN=0.8542;ExAC_NFE=0.7935;ExAC_OTH=0.8062;ExAC_SAS=0.8684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,26:51:99:886,0,845 1 109743081 rs10745350 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10745350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.9006;1000g2015aug_all=0.88139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109743167 rs17034354 A C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17034354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0874601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 109743622 rs3736956 C T 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.266;DP=38;ExcessHet=3.0103;FS=7.454;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.745;SOR=0.095;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=intronic;Gene=NM_001267048,NM_001284352,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369939.7,ENST00000529753.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.5014;1000g2015aug_all=0.366813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:527,0,649 1 109745618 rs1052878 T C 2223.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1324;Func=exonic;Gene=NM_001267048,NM_001284353,NM_020775;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P;Gencode=Name\x3eENST00000529753.5,ENST00000369939.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.954;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.7761;1000g2015aug_amr=0.9049;1000g2015aug_all=0.890375;esp6500siv2_all=0.8529;ExAC_ALL=0.9056;ExAC_AFR=0.7663;ExAC_AMR=0.9278;ExAC_EAS=0.9682;ExAC_FIN=0.9406;ExAC_NFE=0.8994;ExAC_OTH=0.9031;ExAC_SAS=0.9565;SIFT_score=0.317;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.044;LRT_pred=N;MutationTaster_score=0.557;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=2.72;FATHMM_pred=T;phyloP100way_vertebrate=1.126;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.679;gerp++gt2=4.26;CADD=2.870;CADD_Phred=21.7;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2252,201,0 1 109771063 rs683182 T C 2802.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSARS;Func=intronic;Gene=NM_001330669,NM_006513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234677.6,ENST00000369923.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs683182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.8098;1000g2015aug_all=0.679912;esp6500siv2_all=0.6918;ExAC_ALL=0.7571;ExAC_AFR=0.4650;ExAC_AMR=0.8139;ExAC_EAS=0.8970;ExAC_FIN=0.7647;ExAC_NFE=0.7986;ExAC_OTH=0.7863;ExAC_SAS=0.6555;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2831,264,0 1 109771881 rs657511 G T 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.35;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSARS;Func=intronic;Gene=NM_001330669,NM_006513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234677.6,ENST00000369923.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs657511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9986;1000g2015aug_all=0.988818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 109774026 rs600711 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSARS;Func=intronic;Gene=NM_001330669,NM_006513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234677.6,ENST00000369923.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs600711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.7824;1000g2015aug_all=0.785144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 109778577 rs658092 T C 959.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSARS;Func=intronic;Gene=NM_001330669,NM_006513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234677.6,ENST00000369923.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs658092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.8127;1000g2015aug_all=0.689297;esp6500siv2_all=0.6991;ExAC_ALL=0.7638;ExAC_AFR=0.4889;ExAC_AMR=0.8166;ExAC_EAS=0.8976;ExAC_FIN=0.7647;ExAC_NFE=0.7983;ExAC_OTH=0.7911;ExAC_SAS=0.6744;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:988,93,0 1 109779556 rs631927 T A 1370.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSARS;Func=intronic;Gene=NM_001330669,NM_006513;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000234677.6,ENST00000369923.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs631927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9986;1000g2015aug_all=0.988618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1399,129,0 1 109794252 rs454107 T C 2825.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.882;DP=209;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.113;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon1:c.T1551C:p.S517S;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs454107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.9625;1000g2015aug_all=0.901957;esp6500siv2_all=0.9002;ExAC_ALL=0.9466;ExAC_AFR=0.7578;ExAC_AMR=0.9768;ExAC_EAS=0.9993;ExAC_FIN=0.9527;ExAC_NFE=0.9632;ExAC_OTH=0.9702;ExAC_SAS=0.9458;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:112,97:209:99:2854,0,3283 1 109795026 rs413380 T C 2879.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.277;DP=179;ExcessHet=3.0103;FS=1.169;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-1.362;SOR=0.592;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs413380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.9611;1000g2015aug_all=0.901957;esp6500siv2_all=0.9001;ExAC_ALL=0.9466;ExAC_AFR=0.7578;ExAC_AMR=0.9764;ExAC_EAS=0.9993;ExAC_FIN=0.9527;ExAC_NFE=0.9631;ExAC_OTH=0.9701;ExAC_SAS=0.9462;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,98:178:99:2908,0,2297 1 109795608 rs437444 T C 2737.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.313;DP=166;ExcessHet=3.0103;FS=0.573;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-0.249;SOR=0.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon1:c.T2907C:p.F969F;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs437444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.9654;1000g2015aug_all=0.914337;esp6500siv2_all=0.9135;ExAC_ALL=0.9505;ExAC_AFR=0.8014;ExAC_AMR=0.9779;ExAC_EAS=0.9993;ExAC_FIN=0.9527;ExAC_NFE=0.9632;ExAC_OTH=0.9690;ExAC_SAS=0.9468;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,93:166:99:2766,0,2032 1 109804646 rs4970833 G A 285.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.236;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.621;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.4654;1000g2015aug_all=0.353035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:314,0,440 1 109806442 rs1337248 C A 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.58;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.07;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1337248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.5144;1000g2015aug_all=0.489217;esp6500siv2_all=0.4840;ExAC_ALL=0.5584;ExAC_AFR=0.3621;ExAC_AMR=0.5831;ExAC_EAS=0.5399;ExAC_FIN=0.5630;ExAC_NFE=0.5803;ExAC_OTH=0.6225;ExAC_SAS=0.5639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:391,0,403 1 109806834 rs6698843 C T 1270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.083;DP=91;ExcessHet=3.0103;FS=0.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.242;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon10:c.C5136T:p.P1712P;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.498;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.4654;1000g2015aug_all=0.353435;esp6500siv2_all=0.3539;ExAC_ALL=0.4312;ExAC_AFR=0.1271;ExAC_AMR=0.5141;ExAC_EAS=0.4711;ExAC_FIN=0.4371;ExAC_NFE=0.4645;ExAC_OTH=0.4787;ExAC_SAS=0.3983;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,47:91:99:1299,0,1111 1 109807099 rs6689614 G A 1194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.605;DP=89;ExcessHet=3.0103;FS=4.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.74;SOR=0.366;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon11:c.G5313A:p.P1771P;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.4654;1000g2015aug_all=0.353035;esp6500siv2_all=0.3527;ExAC_ALL=0.4286;ExAC_AFR=0.1235;ExAC_AMR=0.5120;ExAC_EAS=0.4701;ExAC_FIN=0.4360;ExAC_NFE=0.4625;ExAC_OTH=0.4736;ExAC_SAS=0.3978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,46:88:99:1223,0,1248 1 109807283 rs6657811 A T 1511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.24;DP=86;ExcessHet=3.0103;FS=1.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-1.025;SOR=0.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e251\x3bName\x3e"225200:MIR3(SINE)";avsnp150=rs6657811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0832668;esp6500siv2_all=0.1332;ExAC_ALL=0.1034;ExAC_AFR=0.1413;ExAC_AMR=0.0512;ExAC_EAS=0.0023;ExAC_FIN=0.0939;ExAC_NFE=0.1242;ExAC_OTH=0.0856;ExAC_SAS=0.0903;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,50:86:99:1540,0,1063 1 109809110 rs593651 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1860\x3bName\x3e"225202:AluSg(SINE)";avsnp150=rs593651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.8064;1000g2015aug_amr=0.6715;1000g2015aug_all=0.70647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 109813020 rs3895559 G A 308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.95;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.245;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3895559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.4813;1000g2015aug_all=0.41873;esp6500siv2_all=0.4260;ExAC_ALL=0.4456;ExAC_AFR=0.3449;ExAC_AMR=0.5211;ExAC_EAS=0.4672;ExAC_FIN=0.4374;ExAC_NFE=0.4632;ExAC_OTH=0.4845;ExAC_SAS=0.3746;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:337,0,239 1 109815074 rs79868705 G A 1197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.607;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=1.534;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79868705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.1081;1000g2015aug_all=0.0563099;esp6500siv2_all=0.0389;ExAC_ALL=0.0540;ExAC_AFR=0.0417;ExAC_AMR=0.1194;ExAC_EAS=0.0149;ExAC_FIN=0.0485;ExAC_NFE=0.0420;ExAC_OTH=0.0423;ExAC_SAS=0.0951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,44:75:99:1226,0,762 1 109815133 rs79482788 G A 989.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.551;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=0.214;SOR=0.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79482788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1081;1000g2015aug_all=0.0772764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,33:59:99:1018,0,794 1 109815211 rs75951814 C A 1053.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.227;DP=68;ExcessHet=3.0103;FS=6.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=1.038;SOR=0.234;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75951814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0800719;esp6500siv2_all=.;ExAC_ALL=0.0623;ExAC_AFR=0.1198;ExAC_AMR=0.1246;ExAC_EAS=0.0159;ExAC_FIN=0.0505;ExAC_NFE=0.0426;ExAC_OTH=0.0432;ExAC_SAS=0.0932;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,29:67:99:1082,0,1503 1 109815252 rs611917 A G 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.273;DP=93;ExcessHet=3.0103;FS=2.761;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.177;SOR=0.522;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs611917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.273;1000g2015aug_eur=0.3131;1000g2015aug_afr=0.3154;1000g2015aug_amr=0.2651;1000g2015aug_all=0.245008;esp6500siv2_all=0.3147;ExAC_ALL=0.2865;ExAC_AFR=0.3421;ExAC_AMR=0.2209;ExAC_EAS=0.0660;ExAC_FIN=0.3470;ExAC_NFE=0.3190;ExAC_OTH=0.2658;ExAC_SAS=0.2641;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,41:92:99:1067,0,1414 1 109815368 rs6670347 T C 1249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.23;DP=104;ExcessHet=3.0103;FS=1.601;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.046;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6670347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0800719;esp6500siv2_all=0.0626;ExAC_ALL=0.0611;ExAC_AFR=0.1190;ExAC_AMR=0.1220;ExAC_EAS=0.0150;ExAC_FIN=0.0485;ExAC_NFE=0.0420;ExAC_OTH=0.0399;ExAC_SAS=0.0901;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,44:104:99:1278,0,1811 1 109815746 rs6667814 A G 1369.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.965;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.75;SOR=0.672;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=intronic;Gene=NM_001408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0358;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0722843;esp6500siv2_all=0.0523;ExAC_ALL=0.0589;ExAC_AFR=0.0939;ExAC_AMR=0.1204;ExAC_EAS=0.0150;ExAC_FIN=0.0479;ExAC_NFE=0.0420;ExAC_OTH=0.0393;ExAC_SAS=0.0937;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,48:78:99:1398,0,903 1 109816176 rs441853 A C 3232.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELSR2;Func=exonic;Gene=NM_001408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CELSR2:NM_001408:exon33:c.A8628C:p.G2876G;Gencode=Name\x3eENST00000271332.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs441853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8926;1000g2015aug_amr=0.987;1000g2015aug_all=0.969848;esp6500siv2_all=0.9752;ExAC_ALL=0.9935;ExAC_AFR=0.9165;ExAC_AMR=0.9967;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9956;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3261,296,0 1 109836842 rs646335 C G 1502.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.06;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=UTR3;Gene=NM_001010985,NM_001265613;GeneDetail=NM_001010985:c.*19G>C\x3bNM_001265613:c.*19G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs646335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.5879;1000g2015aug_all=0.522764;esp6500siv2_all=0.5733;ExAC_ALL=0.5862;ExAC_AFR=0.4739;ExAC_AMR=0.6280;ExAC_EAS=0.5432;ExAC_FIN=0.6100;ExAC_NFE=0.6196;ExAC_OTH=0.6244;ExAC_SAS=0.5038;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1531,150,0 1 109838116 rs632514 C T 806.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs632514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.9899;1000g2015aug_all=0.97504;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:835,66,0 1 109838833 rs616899 T C 1832.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.398;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs616899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.987;1000g2015aug_all=0.965655;esp6500siv2_all=0.9652;ExAC_ALL=0.9902;ExAC_AFR=0.8947;ExAC_AMR=0.9954;ExAC_EAS=1;ExAC_FIN=0.9998;ExAC_NFE=0.9995;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1861,147,0 1 109838918 rs629001 C T 3878.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=exonic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs629001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.9284;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.9452;1000g2015aug_all=0.874601;esp6500siv2_all=0.8600;ExAC_ALL=0.9219;ExAC_AFR=0.6974;ExAC_AMR=0.9609;ExAC_EAS=0.9999;ExAC_FIN=0.9624;ExAC_NFE=0.9295;ExAC_OTH=0.9427;ExAC_SAS=0.9474;SIFT_score=0.643;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.008;MutationTaster_pred=P;MutationAssessor_score=1.075;MutationAssessor_pred=L;FATHMM_score=-0.81;FATHMM_pred=T;phyloP100way_vertebrate=2.958;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=8.025;gerp++gt2=3.27;CADD=3.437;CADD_Phred=23.0;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:3907,369,0 1 109839392 rs604349 A G 3880.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=1.649;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs604349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9046;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.8977;1000g2015aug_all=0.752995;esp6500siv2_all=0.7216;ExAC_ALL=0.8676;ExAC_AFR=0.3417;ExAC_AMR=0.9477;ExAC_EAS=0.9685;ExAC_FIN=0.9039;ExAC_NFE=0.9054;ExAC_OTH=0.8998;ExAC_SAS=0.9209;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3909,360,0 1 109839433 rs1278285 A G 4648.77 PASS AC=2;AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.218;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=exonic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1278285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.733;1000g2015aug_amr=0.9697;1000g2015aug_all=0.925319;esp6500siv2_all=0.9242;ExAC_ALL=0.9780;ExAC_AFR=0.7617;ExAC_AMR=0.9908;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9901;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,148:148:99:4677,442,0 1 109839954 rs603624 G C 677.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs603624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.826;1000g2015aug_afr=0.6241;1000g2015aug_amr=0.7911;1000g2015aug_all=0.732228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:706,51,0 1 109840629 rs600806 G A 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.535;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs600806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.8458;1000g2015aug_all=0.692492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,291 1 109840918 rs115030251 C T 1023.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.225;DP=74;ExcessHet=3.0103;FS=3.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.883;SOR=1.154;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPHL;Func=intronic;Gene=NM_001010985,NM_001265613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357155.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115030251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0677;1000g2015aug_all=0.052516;esp6500siv2_all=0.0942;ExAC_ALL=0.0960;ExAC_AFR=0.0210;ExAC_AMR=0.0482;ExAC_EAS=0.0007;ExAC_FIN=0.1393;ExAC_NFE=0.1305;ExAC_OTH=0.0773;ExAC_SAS=0.0708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,39:74:99:1052,0,949 1 109884775 rs2228604 T G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSORT1;Func=exonic;Gene=NM_001205228,NM_002959;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T;Gencode=Name\x3eENST00000538502.5,ENST00000256637.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.8271;1000g2015aug_all=0.685503;esp6500siv2_all=0.6230;ExAC_ALL=0.7290;ExAC_AFR=0.4120;ExAC_AMR=0.8822;ExAC_EAS=0.9611;ExAC_FIN=0.7064;ExAC_NFE=0.7244;ExAC_OTH=0.7759;ExAC_SAS=0.7241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 109897103 rs11142 A G 943.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.484;DP=71;ExcessHet=3.0103;FS=0.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.796;SOR=0.509;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSORT1;Func=exonic;Gene=NM_001205228,NM_002959;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F;Gencode=Name\x3eENST00000538502.5,ENST00000256637.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.853;1000g2015aug_all=0.776358;esp6500siv2_all=0.7077;ExAC_ALL=0.7532;ExAC_AFR=0.6799;ExAC_AMR=0.8919;ExAC_EAS=0.9612;ExAC_FIN=0.7055;ExAC_NFE=0.7251;ExAC_OTH=0.7863;ExAC_SAS=0.7243;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,38:71:99:972,0,923 1 109910013 rs11581665 C T 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=29;ExcessHet=3.0103;FS=1.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.677;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSORT1;Func=intronic;Gene=NM_001205228,NM_002959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256637.7,ENST00000538502.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11581665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0547125;esp6500siv2_all=0.0954;ExAC_ALL=0.0983;ExAC_AFR=0.0210;ExAC_AMR=0.0489;ExAC_EAS=0.0007;ExAC_FIN=0.1402;ExAC_NFE=0.1315;ExAC_OTH=0.08;ExAC_SAS=0.0828;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:281,0,403 1 109955010 rs2303875 C A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.18;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMA5;Func=intronic;Gene=NM_001199772,NM_001199773,NM_001199774,NM_002790;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538610.5,ENST00000271308.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2303875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.853;1000g2015aug_all=0.776757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 109958035 rs1465607 T C 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=1.93;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMA5;Func=intronic;Gene=NM_001199772,NM_001199773,NM_001199774,NM_002790;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538610.5,ENST00000271308.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1465607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.8429;1000g2015aug_all=0.746006;esp6500siv2_all=0.6772;ExAC_ALL=0.7446;ExAC_AFR=0.5847;ExAC_AMR=0.8883;ExAC_EAS=0.9610;ExAC_FIN=0.7063;ExAC_NFE=0.7235;ExAC_OTH=0.7771;ExAC_SAS=0.7231;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:67:185,0,67 1 110009434 rs2787015 A C 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.066;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-1.142;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYPL2;Func=UTR5;Gene=NM_001040709;GeneDetail=NM_001040709:c.-32A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369872.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2787015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.6899;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.8487;1000g2015aug_all=0.747604;esp6500siv2_all=.;ExAC_ALL=0.7352;ExAC_AFR=0.6165;ExAC_AMR=0.7979;ExAC_EAS=0.9322;ExAC_FIN=.;ExAC_NFE=0.7404;ExAC_OTH=0.7881;ExAC_SAS=0.7315;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,14:32:99:352,0,485 1 110018148 rs530565 C T 2454.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.23;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYPL2;Func=intronic;Gene=NM_001040709;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369872.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs530565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9942;1000g2015aug_all=0.99381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2483,209,0 1 110021837 rs9661614 T C 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.14;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYPL2;Func=intronic;Gene=NM_001040709;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369872.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.7035;1000g2015aug_amr=0.1801;1000g2015aug_all=0.33766;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:292,0,53 1 110026891 rs573491 T G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATXN7L2;Func=intronic;Gene=NM_001350174,NM_001350175,NM_001350177,NM_153340;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615509.2,ENST00000369870.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.1772;1000g2015aug_all=0.316494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 110030945 rs1144593 A G 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.484;DP=61;ExcessHet=3.0103;FS=1.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=1.617;SOR=0.459;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATXN7L2;Func=intronic;Gene=NM_001350174,NM_001350175,NM_001350177,NM_153340;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615509.2,ENST00000369870.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1144593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.1484;1000g2015aug_all=0.217851;esp6500siv2_all=0.2948;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,24:61:99:566,0,1016 1 110035159 rs11590351 T C 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.17;DP=33;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.641;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATXN7L2;Func=intronic;Gene=NM_001350174,NM_001350175,NM_001350177,NM_153340;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615509.2,ENST00000369870.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.1282;1000g2015aug_all=0.189896;esp6500siv2_all=0.2415;ExAC_ALL=0.2181;ExAC_AFR=0.2393;ExAC_AMR=0.0998;ExAC_EAS=0.0376;ExAC_FIN=0.2607;ExAC_NFE=0.2484;ExAC_OTH=0.1976;ExAC_SAS=0.2446;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,17:33:99:447,0,433 1 110036998 rs17575205 G C 736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.824;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.767;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB561D1;Func=intronic;Gene=NM_001134400,NM_001134402,NM_001134403,NM_001134404,NM_182580;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420578.6,ENST00000369868.7,ENST00000533024.5,ENST00000496961.5,ENST00000430195.2,ENST00000527072.5,ENST00000528785.1,ENST00000310611.8,ENST00000393709.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17575205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.1297;1000g2015aug_all=0.144768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,26:50:99:765,0,640 1 110037838 rs749056 T G 506.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.447;DP=26;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=-1.223;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB561D1;Func=intronic;Gene=NM_001134400,NM_001134402,NM_001134403,NM_001134404,NM_182580;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528785.1,ENST00000393709.3,ENST00000310611.8,ENST00000527072.5,ENST00000533024.5,ENST00000496961.5,ENST00000430195.2,ENST00000420578.6,ENST00000369868.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs749056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.1931;1000g2015aug_all=0.330871;esp6500siv2_all=0.4135;ExAC_ALL=0.2982;ExAC_AFR=0.6342;ExAC_AMR=0.1241;ExAC_EAS=0.0380;ExAC_FIN=0.3328;ExAC_NFE=0.3082;ExAC_OTH=0.2632;ExAC_SAS=0.2924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,18:26:99:535,0,154 1 110086451 rs17575798 G A 736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.738;DP=62;ExcessHet=3.0103;FS=2.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.353;SOR=0.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR61;Func=exonic;Gene=NM_031936;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPR61:NM_031936:exon2:c.G807A:p.S269S;Gencode=Name\x3eENST00000616874.1,ENST00000618721.4,ENST00000527748.5,ENST00000526411.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17575798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.171;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.1441;1000g2015aug_all=0.216853;esp6500siv2_all=0.1702;ExAC_ALL=0.2084;ExAC_AFR=0.1209;ExAC_AMR=0.1829;ExAC_EAS=0.3577;ExAC_FIN=0.2002;ExAC_NFE=0.1908;ExAC_OTH=0.2146;ExAC_SAS=0.2747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,33:62:99:765,0,778 1 110091271 rs3737182 C T 460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.405;DP=37;ExcessHet=3.0103;FS=1.71;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.368;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNAI3;Func=UTR5;Gene=NM_006496;GeneDetail=NM_006496:c.-72C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369851.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.147;1000g2015aug_all=0.227037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:489,0,596 1 110124888 rs12037970 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNAI3;Func=intronic;Gene=NM_006496;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369851.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1681\x3bName\x3e"225807:AluJr4(SINE)";avsnp150=rs12037970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.17;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.1556;1000g2015aug_all=0.232428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 110141421 rs1889470 T C 354.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.568;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=2.515;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_029583;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369851.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1889470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3433;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.1931;1000g2015aug_all=0.345647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:383,0,524 1 110148974 rs1799875 C T 937.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.364;DP=70;ExcessHet=3.0103;FS=0.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.529;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNAT2;Func=exonic;Gene=NM_005272;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GNAT2:NM_005272:exon5:c.G546A:p.T182T;Gencode=Name\x3eENST00000351050.7,ENST00000369851.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1799875;cosmic70=.;CLNALLELEID=249359;CLNDN=Achromatopsia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011516,MedGen:C0152200,Orphanet:ORPHA49382,SNOMED_CT:56852002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.363;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.056;1000g2015aug_amr=0.5375;1000g2015aug_all=0.378594;esp6500siv2_all=0.3306;ExAC_ALL=0.4490;ExAC_AFR=0.1027;ExAC_AMR=0.6337;ExAC_EAS=0.6399;ExAC_FIN=0.5029;ExAC_NFE=0.4527;ExAC_OTH=0.4681;ExAC_SAS=0.4006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,35:70:99:966,0,945 1 110153198 rs6658641 G A 276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.851;DP=42;ExcessHet=3.0103;FS=2.759;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.747;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNAT2;Func=intronic;Gene=NM_005272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369851.5,ENST00000351050.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.1225;1000g2015aug_all=0.121605;esp6500siv2_all=0.1397;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,14:42:99:305,0,805 1 110155524 rs2304355 T C 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.059;DP=24;ExcessHet=3.0103;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=1.377;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNAT2;Func=UTR5;Gene=NM_005272;GeneDetail=NM_005272:c.-32A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000351050.7,ENST00000369851.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2304355;cosmic70=.;CLNALLELEID=249361;CLNDN=Achromatopsia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011516,MedGen:C0152200,Orphanet:ORPHA49382,SNOMED_CT:56852002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.1225;1000g2015aug_all=0.120607;esp6500siv2_all=0.1342;ExAC_ALL=0.1526;ExAC_AFR=0.0654;ExAC_AMR=0.1564;ExAC_EAS=0.1134;ExAC_FIN=0.1467;ExAC_NFE=0.1615;ExAC_OTH=0.1718;ExAC_SAS=0.1906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:253,0,384 1 110163076 rs6669802 A G 433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.229;DP=34;ExcessHet=3.0103;FS=1.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.242;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMPD2;Func=intronic;Gene=NM_001257360,NM_139156;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342115.8,ENST00000528667.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.684;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.6455;1000g2015aug_all=0.639976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:462,0,547 1 110198727 rs1010167 C G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=UTR5;Gene=NM_000850,NM_147148;GeneDetail=NM_000850:c.-285C>G\x3bNM_147148:c.-285C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369836.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1010167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.5937;1000g2015aug_all=0.421326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 110200360 rs560018 T C 3858.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.127;DP=245;ExcessHet=3.0103;FS=2.173;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.125;SOR=0.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326729.9,ENST00000369833.5,ENST00000336075.6,ENST00000369836.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs560018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.328;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.2262;1000g2015aug_all=0.154952;esp6500siv2_all=0.2859;ExAC_ALL=0.2650;ExAC_AFR=0.1155;ExAC_AMR=0.2016;ExAC_EAS=0.0480;ExAC_FIN=0.2782;ExAC_NFE=0.3530;ExAC_OTH=0.2489;ExAC_SAS=0.1568;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:105,140:245:99:3887,0,2677 1 110201580 rs650985 C T 5408.77 PASS AC=2;AF=1;AN=2;DP=181;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=1.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369833.5,ENST00000326729.9,ENST00000336075.6,ENST00000369836.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs650985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9625;1000g2015aug_all=0.979633;esp6500siv2_all=0.9570;ExAC_ALL=0.9586;ExAC_AFR=0.9881;ExAC_AMR=0.9737;ExAC_EAS=1;ExAC_FIN=0.9617;ExAC_NFE=0.9401;ExAC_OTH=0.9637;ExAC_SAS=0.9812;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,180:180:99:5437,540,0 1 110201699 rs506008 T C 1425.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.81;QD=31.23;SOR=1.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=exonic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GSTM4:NM_000850:exon7:c.T534C:p.F178F,GSTM4:NM_147148:exon7:c.T534C:p.F178F;Gencode=Name\x3eENST00000369833.5,ENST00000326729.9,ENST00000336075.6,ENST00000369836.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs506008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.5681;1000g2015aug_amr=0.8732;1000g2015aug_all=0.805312;esp6500siv2_all=0.7855;ExAC_ALL=0.8598;ExAC_AFR=0.6058;ExAC_AMR=0.9246;ExAC_EAS=0.9762;ExAC_FIN=0.8810;ExAC_NFE=0.8682;ExAC_OTH=0.8733;ExAC_SAS=0.8699;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1454,117,0 1 110201809 rs562996 G T 1726.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.66;QD=27.4;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336075.6,ENST00000369836.8,ENST00000326729.9,ENST00000369833.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs562996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.8963;1000g2015aug_all=0.874002;esp6500siv2_all=.;ExAC_ALL=0.8799;ExAC_AFR=0.8276;ExAC_AMR=0.9337;ExAC_EAS=0.9742;ExAC_FIN=0.8810;ExAC_NFE=0.8688;ExAC_OTH=0.8830;ExAC_SAS=0.8702;SIFT_score=0.036;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.6;FATHMM_pred=T;phyloP100way_vertebrate=0.027;phyloP20way_mammalian=-0.805;SiPhy_29way_logOdds=8.120;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1755,117,0 1 110201812 rs563003 A G 1726.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.66;QD=30.23;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326729.9,ENST00000369833.5,ENST00000336075.6,ENST00000369836.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs563003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.8507;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.8963;1000g2015aug_all=0.874002;esp6500siv2_all=.;ExAC_ALL=0.8800;ExAC_AFR=0.8275;ExAC_AMR=0.9338;ExAC_EAS=0.9742;ExAC_FIN=0.8809;ExAC_NFE=0.8690;ExAC_OTH=0.8830;ExAC_SAS=0.8702;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.47;FATHMM_pred=T;phyloP100way_vertebrate=-2.517;phyloP20way_mammalian=-0.304;SiPhy_29way_logOdds=5.024;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1755,117,0 1 110203554 rs510651 G T 520.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.27;QD=26.93;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336075.6,ENST00000369836.8,ENST00000326729.9,ENST00000369833.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e318\x3bName\x3e"225929:MIR(SINE)";avsnp150=rs510651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8252;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.882;1000g2015aug_amr=0.9135;1000g2015aug_all=0.891174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:549,42,0 1 110203775 rs371982346 C T 1081.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.996;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.89;MQRankSum=0.769;QD=10.61;ReadPosRankSum=0.306;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM4;Func=intronic;Gene=NM_000850,NM_147148;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336075.6,ENST00000369836.8,ENST00000326729.9,ENST00000369833.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs371982346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0002;ExAC_ALL=1.652e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,46:102:99:1110,0,1623 1 110210780 rs530021 C G 949.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336075.6,ENST00000442650.5,ENST00000414179.6,ENST00000369829.2,ENST00000241337.8,ENST00000369827.7,ENST00000369831.6,ENST00000460717.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs530021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9702;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.938;1000g2015aug_all=0.904752;esp6500siv2_all=0.9117;ExAC_ALL=0.9091;ExAC_AFR=0.8999;ExAC_AMR=0.9619;ExAC_EAS=0.9766;ExAC_FIN=0.8632;ExAC_NFE=0.9095;ExAC_OTH=0.9056;ExAC_SAS=0.8596;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:98:978,98,0 1 110210818 rs2073483 C T 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.038;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.811;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369827.7,ENST00000369831.6,ENST00000460717.7,ENST00000241337.8,ENST00000414179.6,ENST00000369829.2,ENST00000336075.6,ENST00000442650.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.146;1000g2015aug_amr=0.5663;1000g2015aug_all=0.404353;esp6500siv2_all=0.2903;ExAC_ALL=0.4422;ExAC_AFR=0.1973;ExAC_AMR=0.6083;ExAC_EAS=0.6896;ExAC_FIN=0.4397;ExAC_NFE=0.4160;ExAC_OTH=0.4393;ExAC_SAS=0.4218;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:268,0,141 1 110211681 rs428135 G C 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.138;DP=64;ExcessHet=3.0103;FS=7.226;MLEAC=1;MLEAF=0.5;MQ=45.08;MQRankSum=-5.299;QD=4.43;ReadPosRankSum=0.568;SOR=2.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414179.6,ENST00000369829.2,ENST00000336075.6,ENST00000442650.5,ENST00000369827.7,ENST00000369831.6,ENST00000460717.7,ENST00000241337.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs428135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.3746;1000g2015aug_all=0.529752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,13:64:99:312,0,1419 1 110211835 rs402505 T C 1247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.073;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.3;MQRankSum=-4.693;QD=18.08;ReadPosRankSum=0.282;SOR=0.405;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241337.8,ENST00000460717.7,ENST00000369827.7,ENST00000369831.6,ENST00000442650.5,ENST00000336075.6,ENST00000414179.6,ENST00000369829.2;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs402505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,36:69:99:1276,0,1129 1 110212293 rs3819350 C A 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.309;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.87;ReadPosRankSum=0.441;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241337.8,ENST00000369831.6,ENST00000369827.7,ENST00000460717.7,ENST00000336075.6,ENST00000442650.5,ENST00000369829.2,ENST00000414179.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4918\x3bName\x3e"225946:LTR12_(LTR)";avsnp150=rs3819350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.1097;1000g2015aug_amr=0.5447;1000g2015aug_all=0.371805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,14:17:75:502,0,75 1 110214906 rs756635 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM2;Func=intronic;Gene=NM_000848,NM_001142368;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336075.6,ENST00000442650.5,ENST00000369829.2,ENST00000414179.6,ENST00000241337.8,ENST00000369831.6,ENST00000369827.7,ENST00000460717.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"225948:AluSp(SINE)";avsnp150=rs756635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9308;1000g2015aug_all=0.916134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 110246036 rs11101985 G C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000561,NM_000851;GeneDetail=dist\x3e9669\x3bdist\x3e8828;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369831.6,ENST00000483399.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=Score\x3e4889\x3bName\x3e"225997:MER11A(LTR)";avsnp150=rs11101985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.409;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.5159;1000g2015aug_all=0.377596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 110252010 rs1292098 T C 486.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.04;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000561,NM_000851;GeneDetail=dist\x3e15643\x3bdist\x3e2854;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369831.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=Score\x3e4754\x3bName\x3e"226001:MER11A(LTR)";avsnp150=rs1292098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.8804;1000g2015aug_all=0.858027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:515,54,0 1 110252091 rs35677255 G A 469.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000561,NM_000851;GeneDetail=dist\x3e15724\x3bdist\x3e2773;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369831.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=Score\x3e4754\x3bName\x3e"226001:MER11A(LTR)";avsnp150=rs35677255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.409;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.5173;1000g2015aug_all=0.377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:498,45,0 1 110254678 rs1758104 G T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.46;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=.;avsnp150=rs1758104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.771;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.8271;1000g2015aug_all=0.840855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 110255174 rs929166 T G 743.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM5;Func=intronic;Gene=NM_000851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256593.7,ENST00000369812.6,ENST00000369813.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=.;avsnp150=rs929166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.438;1000g2015aug_all=0.353435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:772,66,0 1 110255596 rs4970773 C G 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.71;QD=32.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM5;Func=intronic;Gene=NM_000851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369813.5,ENST00000256593.7,ENST00000369812.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=Score\x3e0.95643\x3bName\x3echr1:109673477;Repeat=.;avsnp150=rs4970773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.4222;1000g2015aug_all=0.321086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 110272645 rs4970736 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000851,NM_000849;GeneDetail=dist\x3e11755\x3bdist\x3e3909;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431955.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2837\x3bName\x3e"226039:MER4A1(LTR)";avsnp150=rs4970736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8532;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.9289;1000g2015aug_amr=0.67;1000g2015aug_all=0.761781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 110279701 rs7483 C T 925.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM3;Func=exonic;Gene=NM_000849;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GSTM3:NM_000849:exon9:c.G670A:p.V224I;Gencode=Name\x3eENST00000431955.1,ENST00000361066.6,ENST00000256594.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.4035;1000g2015aug_all=0.360623;esp6500siv2_all=0.2340;ExAC_ALL=0.3415;ExAC_AFR=0.0996;ExAC_AMR=0.4552;ExAC_EAS=0.7378;ExAC_FIN=0.2952;ExAC_NFE=0.2921;ExAC_OTH=0.3326;ExAC_SAS=0.4253;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.632;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.84;MutationAssessor_pred=N;FATHMM_score=4.94;FATHMM_pred=T;phyloP100way_vertebrate=-1.686;phyloP20way_mammalian=-1.576;SiPhy_29way_logOdds=1.767;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:954,93,0 1 110279821 rs1537234 C A 1140.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM3;Func=intronic;Gene=NM_000849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431955.1,ENST00000361066.6,ENST00000256594.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1537234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.5216;1000g2015aug_all=0.486821;esp6500siv2_all=0.3524;ExAC_ALL=0.4648;ExAC_AFR=0.2047;ExAC_AMR=0.5767;ExAC_EAS=0.8450;ExAC_FIN=0.4239;ExAC_NFE=0.4138;ExAC_OTH=0.4390;ExAC_SAS=0.5750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1169,102,0 1 110279914 rs1571858 C T 1460.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=1.154;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM3;Func=intronic;Gene=NM_000849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431955.1,ENST00000361066.6,ENST00000256594.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1571858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7113;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.1029;1000g2015aug_amr=0.4078;1000g2015aug_all=0.369409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1489,135,0 1 110281941 rs10735234 G A 1210.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM3;Func=intronic;Gene=NM_000849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431955.1,ENST00000540225.2,ENST00000361066.6,ENST00000256594.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e796\x3bName\x3e"226060:Charlie4a(DNA)";avsnp150=rs10735234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.6599;1000g2015aug_all=0.748403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1239,111,0 1 110282972 rs1332018 G T 5760.77 PASS AC=2;AF=1;AN=2;DP=185;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=0.971;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGSTM3;Func=UTR5;Gene=NM_000849;GeneDetail=NM_000849:c.-63C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256594.7,ENST00000361066.6,ENST00000431955.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.6556;1000g2015aug_all=0.741414;esp6500siv2_all=0.6491;ExAC_ALL=0.6759;ExAC_AFR=0.8436;ExAC_AMR=0.7043;ExAC_EAS=0.8565;ExAC_FIN=0.6032;ExAC_NFE=0.6126;ExAC_OTH=0.6359;ExAC_SAS=0.7277;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,185:185:99:5789,555,0 1 110292856 rs15864 G C 1180.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=UTR3;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=NM_001319952:c.*157C>G\x3bNM_024526:c.*157C>G\x3bNM_133181:c.*157C>G\x3bNM_139053:c.*157C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431955.1,ENST00000361852.8,ENST00000369805.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.3919;1000g2015aug_all=0.347843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1209,99,0 1 110295772 rs1887547 T C 4131.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.247;DP=133;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.07;ReadPosRankSum=-1.784;SOR=0.945;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=exonic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S;Gencode=Name\x3eENST00000431955.1,ENST00000361965.8,ENST00000369805.7,ENST00000361852.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.5795;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.6816;1000g2015aug_all=0.770168;esp6500siv2_all=0.6893;ExAC_ALL=0.6614;ExAC_AFR=0.8779;ExAC_AMR=0.6693;ExAC_EAS=0.8389;ExAC_FIN=0.5654;ExAC_NFE=0.5986;ExAC_OTH=0.5982;ExAC_SAS=0.7224;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:2,131:133:99:4160,349,0 1 110295890 rs1887548 C G 3106.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.686;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361965.8,ENST00000431955.1,ENST00000369805.7,ENST00000361852.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.6787;1000g2015aug_all=0.767173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3135,282,0 1 110296017 rs6673976 C T 637.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=39.55;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369805.7,ENST00000361852.8,ENST00000361965.8,ENST00000431955.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8581;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.6527;1000g2015aug_all=0.680511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:666,48,0 1 110300441 rs3818562 G A 2413.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=exonic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EPS8L3:NM_001319952:exon9:c.C778T:p.H260Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y;Gencode=Name\x3eENST00000431955.1,ENST00000361965.8,ENST00000369805.7,ENST00000361852.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.4366;1000g2015aug_all=0.473243;esp6500siv2_all=0.4034;ExAC_ALL=0.4843;ExAC_AFR=0.2158;ExAC_AMR=0.4225;ExAC_EAS=0.7775;ExAC_FIN=0.4062;ExAC_NFE=0.4853;ExAC_OTH=0.4591;ExAC_SAS=0.5720;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.21;MutationAssessor_pred=N;FATHMM_score=2.76;FATHMM_pred=T;phyloP100way_vertebrate=1.322;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=8.934;gerp++gt2=2.69;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2442,213,0 1 110300504 rs10776700 A G 2129.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369805.7,ENST00000361852.8,ENST00000431955.1,ENST00000361965.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10776700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9712;1000g2015aug_afr=1;1000g2015aug_amr=0.9885;1000g2015aug_all=0.992412;esp6500siv2_all=0.9819;ExAC_ALL=0.9833;ExAC_AFR=0.9967;ExAC_AMR=0.9901;ExAC_EAS=1;ExAC_FIN=0.9699;ExAC_NFE=0.9760;ExAC_OTH=0.9823;ExAC_SAS=0.9966;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2158,195,0 1 110302505 rs77854863 G A 3341.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361852.8,ENST00000369805.7,ENST00000361965.8,ENST00000431955.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77854863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0195687;esp6500siv2_all=0.0445;ExAC_ALL=0.0450;ExAC_AFR=0.0106;ExAC_AMR=0.0157;ExAC_EAS=0;ExAC_FIN=0.0985;ExAC_NFE=0.0631;ExAC_OTH=0.0418;ExAC_SAS=0.0147;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3370,318,0 1 110303931 rs3820666 G C 260.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369805.7,ENST00000361852.8,ENST00000431955.1,ENST00000361965.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.67;1000g2015aug_all=0.815695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:289,21,0 1 110306211 rs3738771 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPS8L3;Func=intronic;Gene=NM_001319952,NM_024526,NM_133181,NM_139053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361965.8,ENST00000431955.1,ENST00000369805.7,ENST00000361852.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.2262;1000g2015aug_all=0.321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 110459773 rs333967 C T 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.003;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.334;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF1;Func=intronic;Gene=NM_000757,NM_172210,NM_172211,NM_172212;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369802.7,ENST00000369801.1,ENST00000329608.10,ENST00000420111.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs333967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.3919;1000g2015aug_all=0.310104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:410,0,506 1 110466338 rs333970 C A 10432.8 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.953;DP=316;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.02;ReadPosRankSum=-0.641;SOR=0.344;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF1;Func=exonic;Gene=NM_000757,NM_172212;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CSF1:NM_000757:exon6:c.C1095A:p.T365T,CSF1:NM_172212:exon6:c.C1095A:p.T365T;Gencode=Name\x3eENST00000420111.6,ENST00000329608.10,ENST00000369801.1,ENST00000369802.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs333970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.5749;1000g2015aug_all=0.430112;esp6500siv2_all=0.4646;ExAC_ALL=0.5573;ExAC_AFR=0.1826;ExAC_AMR=0.6141;ExAC_EAS=0.4316;ExAC_FIN=0.6404;ExAC_NFE=0.6019;ExAC_OTH=0.5893;ExAC_SAS=0.6048;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,315:316:99:10461,938,0 1 110466709 rs333971 T C 4607.77 PASS AC=2;AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=1.123;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF1;Func=exonic;Gene=NM_000757,NM_172210,NM_172211,NM_172212;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CSF1:NM_000757:exon6:c.T1466C:p.F489S,CSF1:NM_172211:exon6:c.T572C:p.F191S,CSF1:NM_172212:exon6:c.T1466C:p.F489S,CSF1:NM_172210:exon7:c.T1118C:p.F373S;Gencode=Name\x3eENST00000420111.6,ENST00000329608.10,ENST00000369801.1,ENST00000369802.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs333971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996805;esp6500siv2_all=0.9968;ExAC_ALL=0.9991;ExAC_AFR=0.9902;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.090;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=2.96;FATHMM_pred=T;phyloP100way_vertebrate=-0.104;phyloP20way_mammalian=0.040;SiPhy_29way_logOdds=9.415;gerp++gt2=4.57;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,142:142:99:4636,426,0 1 110467745 rs333972 A G 820.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSF1;Func=intronic;Gene=NM_000757,NM_172210,NM_172211,NM_172212;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329608.10,ENST00000420111.6,ENST00000369801.1,ENST00000369802.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs333972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996805;esp6500siv2_all=0.9968;ExAC_ALL=0.9991;ExAC_AFR=0.9902;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:849,78,0 1 110560915 rs186724 C T 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.53;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.489;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAHCYL1;Func=intronic;Gene=NM_001242673,NM_001242674,NM_001242675,NM_001242676,NM_006621;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369799.9,ENST00000393614.8,ENST00000359172.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs186724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0804712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:207,0,298 1 110580215 rs10745307 G A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTRIP1;Func=intronic;Gene=NM_001270768,NM_033088;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369795.7,ENST00000369796.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e343\x3bName\x3e"226579:L2c(LINE)";avsnp150=rs10745307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.6527;1000g2015aug_all=0.710264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 110587924 rs7545124 G A 456.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTRIP1;Func=intronic;Gene=NM_001270768,NM_033088;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369796.5,ENST00000369795.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.798;1000g2015aug_amr=0.6859;1000g2015aug_all=0.734225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:485,39,0 1 110587956 rs7545139 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTRIP1;Func=intronic;Gene=NM_001270768,NM_033088;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369795.7,ENST00000369796.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1003\x3bName\x3e"226584:FRAM(SINE)";avsnp150=rs7545139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.6225;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 110590703 rs41281352 T C 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.804;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.412;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTRIP1;Func=intronic;Gene=NM_001270768,NM_033088;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369795.7,ENST00000369796.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e235\x3bName\x3e"226590:MIR1_Amn(SINE)";avsnp150=rs41281352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:260,0,212 1 110606675 rs904023 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALX3;Func=intronic;Gene=NM_006492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369792.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs904023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.729;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.6392;1000g2015aug_amr=0.6484;1000g2015aug_all=0.668131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 110606946 rs1077581 C G 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALX3;Func=intronic;Gene=NM_006492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369792.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"226616:MIRc(SINE)";avsnp150=rs1077581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7629;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.6599;1000g2015aug_all=0.715855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 110607019 rs1077580 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALX3;Func=intronic;Gene=NM_006492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369792.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.6628;1000g2015aug_all=0.720248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 110612925 rs2274568 G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALX3;Func=intronic;Gene=NM_006492;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369792.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.6527;1000g2015aug_all=0.693291;esp6500siv2_all=0.6681;ExAC_ALL=0.6573;ExAC_AFR=0.7406;ExAC_AMR=0.7584;ExAC_EAS=0.8218;ExAC_FIN=0.6366;ExAC_NFE=0.5938;ExAC_OTH=0.6575;ExAC_SAS=0.7185;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 110677921 rs7518801 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_203412,NM_001010898;GeneDetail=dist\x3e21352\x3bdist\x3e15215;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.3256;1000g2015aug_all=0.371805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 110709719 rs7527375 T C 1311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.467;DP=71;ExcessHet=3.0103;FS=8.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.967;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=exonic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC6A17:NM_001010898:exon2:c.T168C:p.D56D;Gencode=Name\x3eENST00000443008.1,ENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.4652;1000g2015aug_amr=0.353;1000g2015aug_all=0.392971;esp6500siv2_all=0.5211;ExAC_ALL=0.4656;ExAC_AFR=0.5152;ExAC_AMR=0.2551;ExAC_EAS=0.2194;ExAC_FIN=0.5936;ExAC_NFE=0.5355;ExAC_OTH=0.5046;ExAC_SAS=0.3716;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,35:71:99:1340,0,2337 1 110709720 rs12737742 G A 1311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.715;DP=71;ExcessHet=3.0103;FS=8.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.875;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=exonic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC6A17:NM_001010898:exon2:c.G169A:p.A57T;Gencode=Name\x3eENST00000331565.4,ENST00000443008.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.2608;1000g2015aug_all=0.2502;esp6500siv2_all=0.3312;ExAC_ALL=0.3771;ExAC_AFR=0.0954;ExAC_AMR=0.2021;ExAC_EAS=0.2177;ExAC_FIN=0.5373;ExAC_NFE=0.4603;ExAC_OTH=0.4443;ExAC_SAS=0.3537;SIFT_score=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.049;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_pred=B;LRT_score=0.169;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-0.82;FATHMM_pred=T;phyloP100way_vertebrate=0.681;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=6.041;gerp++gt2=2.57;CADD=1.576;CADD_Phred=13.72;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,35:71:99:1340,0,2337 1 110714436 rs1007692 A T 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-1.465;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4,ENST00000443008.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1007692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.2248;1000g2015aug_all=0.230032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:28:154,0,28 1 110716511 rs12747833 C T 200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.1;DP=18;ExcessHet=3.0103;FS=1.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.089;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12747833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.2622;1000g2015aug_all=0.253794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:229,0,247 1 110719089 rs589540 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs589540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9775;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9496;1000g2015aug_all=0.966853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 110735037 rs2603583 T G 446.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.222;DP=25;ExcessHet=3.0103;FS=2.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.548;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2603583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.408;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.5187;1000g2015aug_all=0.534744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:475,0,384 1 110738296 rs2784140 G A 1691.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.086;DP=125;ExcessHet=3.0103;FS=0.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.411;SOR=0.62;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=exonic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC6A17:NM_001010898:exon10:c.G1581A:p.S527S;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2784140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.3847;1000g2015aug_all=0.289736;esp6500siv2_all=0.3676;ExAC_ALL=0.4141;ExAC_AFR=0.0999;ExAC_AMR=0.3123;ExAC_EAS=0.2750;ExAC_FIN=0.5124;ExAC_NFE=0.4943;ExAC_OTH=0.4148;ExAC_SAS=0.3924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,66:125:99:1720,0,1593 1 110739864 rs2761442 A G 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=1.454;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2761442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.3991;1000g2015aug_all=0.313299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:251,0,218 1 110740273 rs2603581 G T 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.174;DP=31;ExcessHet=3.0103;FS=1.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.689;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2603581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.3934;1000g2015aug_all=0.316494;esp6500siv2_all=0.3792;ExAC_ALL=0.4228;ExAC_AFR=0.1808;ExAC_AMR=0.3119;ExAC_EAS=0.2782;ExAC_FIN=0.5124;ExAC_NFE=0.4940;ExAC_OTH=0.4115;ExAC_SAS=0.3967;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:355,0,515 1 110740406 rs2761443 C T 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.384;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=-1.306;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e377\x3bName\x3e"226872:MIRb(SINE)";avsnp150=rs2761443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.093;1000g2015aug_amr=0.3963;1000g2015aug_all=0.304712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,4:15:88:88,0,346 1 110740472 rs2761444 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.842;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2761444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.3963;1000g2015aug_all=0.307907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 110740688 rs2761445 C T 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.562;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.64;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC6A17;Func=intronic;Gene=NM_001010898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331565.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2761445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.4583;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.402;1000g2015aug_all=0.319489;esp6500siv2_all=0.3982;ExAC_ALL=0.4355;ExAC_AFR=0.1860;ExAC_AMR=0.3196;ExAC_EAS=0.2774;ExAC_FIN=0.5207;ExAC_NFE=0.5066;ExAC_OTH=0.4318;ExAC_SAS=0.4388;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,25:46:99:699,0,705 1 110765535 rs611587 C G 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.091;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.685;SOR=0.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNC4;Func=intronic;Gene=NM_001039574,NM_004978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369787.7,ENST00000438661.2,ENST00000413138.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs611587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.5145;ExAC_ALL=0.5036;ExAC_AFR=0.3382;ExAC_AMR=0.3677;ExAC_EAS=0.2403;ExAC_FIN=0.6007;ExAC_NFE=0.5957;ExAC_OTH=0.4866;ExAC_SAS=0.4020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,29:58:99:969,0,978 1 110786319 rs860060 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004978,NR_036595;GeneDetail=dist\x3e9645\x3bdist\x3e42679;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369787.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs860060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.736;1000g2015aug_amr=0.6167;1000g2015aug_all=0.699081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 110786336 rs814327 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004978,NR_036595;GeneDetail=dist\x3e9662\x3bdist\x3e42662;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369787.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs814327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.5375;1000g2015aug_all=0.565296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 110842415 rs4112315 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440600;Func=ncRNA_intronic;Gene=NR_036595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449169.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4112315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.1816;1000g2015aug_all=0.151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 110869924 rs56158716 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440600;Func=ncRNA_intronic;Gene=NR_036595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449169.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56158716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.3818;1000g2015aug_all=0.34984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 110882444 rs814771 A G 1703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.503;DP=95;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=0;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBM15;Func=exonic;Gene=NM_001201545,NM_022768;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E;Gencode=Name\x3eENST00000617047.1,ENST00000602849.1,ENST00000618772.4,ENST00000487146.6,ENST00000369784.7;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs814771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.816;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.8545;1000g2015aug_all=0.822883;esp6500siv2_all=0.7918;ExAC_ALL=0.7613;ExAC_AFR=0.9305;ExAC_AMR=0.8484;ExAC_EAS=0.7513;ExAC_FIN=0.6926;ExAC_NFE=0.7222;ExAC_OTH=0.7281;ExAC_SAS=0.7926;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,51:95:99:1732,0,1207 1 110919903 rs2279722 T C 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=1.074;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC16A4;Func=intronic;Gene=NM_001201546,NM_001201547,NM_001201548,NM_001201549,NM_001319220,NM_004696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437429.6,ENST00000541986.5,ENST00000369781.8,ENST00000369779.8,ENST00000472422.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.3746;1000g2015aug_all=0.353834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 110922312 rs7530260 A C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC16A4;Func=intronic;Gene=NM_001201546,NM_001201547,NM_001201548,NM_001201549,NM_001319220,NM_004696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541986.5,ENST00000437429.6,ENST00000472422.6,ENST00000369781.8,ENST00000369779.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.819;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.853;1000g2015aug_all=0.820288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 110924235 rs12120542 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.927;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=-0.701;SOR=2.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC16A4;Func=intronic;Gene=NM_001201546,NM_001201547,NM_001201548,NM_001201549,NM_001319220,NM_004696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369781.8,ENST00000369779.8,ENST00000472422.6,ENST00000437429.6,ENST00000541986.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2175\x3bName\x3e"227210:AluJb(SINE)";avsnp150=rs12120542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1066;1000g2015aug_all=0.043131;esp6500siv2_all=0.0861;ExAC_ALL=0.0849;ExAC_AFR=0.0226;ExAC_AMR=0.0772;ExAC_EAS=0.0004;ExAC_FIN=0.0987;ExAC_NFE=0.1171;ExAC_OTH=0.0759;ExAC_SAS=0.0353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:99:110,0,433 1 110946294 rs12135220 G A 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.465;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMTOR5;Func=intronic;Gene=NM_006402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602318.5,ENST00000256644.8,ENST00000602858.5,ENST00000614544.1,ENST00000483260.5,ENST00000474861.6;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2738;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.3818;1000g2015aug_all=0.365815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 110949720 rs6671673 C T 695.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.44;DP=49;ExcessHet=3.0103;FS=2.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.86;SOR=1.164;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMTOR5;Func=intronic;Gene=NM_006402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256644.8,ENST00000602318.5,ENST00000483260.5,ENST00000474861.6,ENST00000614544.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.6787;1000g2015aug_all=0.577476;esp6500siv2_all=.;ExAC_ALL=0.5157;ExAC_AFR=0.5684;ExAC_AMR=0.5435;ExAC_EAS=0.4769;ExAC_FIN=0.5;ExAC_NFE=0.4955;ExAC_OTH=0.5508;ExAC_SAS=0.5214;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,25:49:99:724,0,605 1 110949857 rs6684395 A T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMTOR5;Func=intronic;Gene=NM_006402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000474861.6,ENST00000483260.5,ENST00000614544.1,ENST00000602318.5,ENST00000256644.8;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.6445;1000g2015aug_amr=0.6787;1000g2015aug_all=0.577276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 110950439 rs6674775 C T 2248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.888;DP=208;ExcessHet=3.0103;FS=0.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.221;SOR=0.742;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMTOR5,LAMTOR5-AS1;Func=exonic;Gene=NM_006402;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAMTOR5:NM_006402:exon1:c.G50A:p.S17N;Gencode=Name\x3eENST00000614544.1,ENST00000625451.2,ENST00000256644.8,ENST00000457535.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6674775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2758;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.379;1000g2015aug_all=0.363419;esp6500siv2_all=0.4443;ExAC_ALL=0.4359;ExAC_AFR=0.3471;ExAC_AMR=0.3904;ExAC_EAS=0.2513;ExAC_FIN=0.4779;ExAC_NFE=0.4807;ExAC_OTH=0.4367;ExAC_SAS=0.4226;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.458;phyloP20way_mammalian=-0.267;SiPhy_29way_logOdds=1.919;gerp++gt2=.;CADD=1.035;CADD_Phred=10.86;ALLELE_END GT:AD:DP:GQ:PL 0/1:118,90:208:99:2277,0,3344 1 110993561 rs1573238 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_032414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 111013179 rs4839408 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032414,NR_003599;GeneDetail=dist\x3e13203\x3bdist\x3e10209;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2468\x3bName\x3e"227419:AluSg4(SINE)";avsnp150=rs4839408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9623;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.9553;1000g2015aug_all=0.940695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 111013196 rs4839021 T C 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032414,NR_003599;GeneDetail=dist\x3e13220\x3bdist\x3e10192;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2468\x3bName\x3e"227419:AluSg4(SINE)";avsnp150=rs4839021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9637;1000g2015aug_amr=0.9942;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 111033836 rs4839432 A G 48.52 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.26;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYMP;Func=ncRNA_exonic;Gene=NR_003599;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.836;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.8617;1000g2015aug_all=0.835663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 111049203 rs1281186 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_003599,NM_005549;GeneDetail=dist\x3e15312\x3bdist\x3e10636;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1281186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.503;1000g2015aug_amr=0.7003;1000g2015aug_all=0.600839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 111060669 rs1281175 T C 4531.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNA10;Func=exonic;Gene=NM_005549;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNA10:NM_005549:exon1:c.A741G:p.L247L;Gencode=Name\x3eENST00000369771.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1281175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.7839;1000g2015aug_all=0.624201;esp6500siv2_all=0.6715;ExAC_ALL=0.7049;ExAC_AFR=0.5580;ExAC_AMR=0.8245;ExAC_EAS=0.5743;ExAC_FIN=0.6972;ExAC_NFE=0.7462;ExAC_OTH=0.6894;ExAC_SAS=0.6192;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4560,390,0 1 111061062 rs1281174 T C 1325.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNA10;Func=exonic;Gene=NM_005549;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNA10:NM_005549:exon1:c.A348G:p.E116E;Gencode=Name\x3eENST00000369771.3;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1281174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.7839;1000g2015aug_all=0.624201;esp6500siv2_all=0.6712;ExAC_ALL=0.7050;ExAC_AFR=0.5585;ExAC_AMR=0.8247;ExAC_EAS=0.5743;ExAC_FIN=0.6967;ExAC_NFE=0.7461;ExAC_OTH=0.6894;ExAC_SAS=0.6194;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1354,114,0 1 111144526 rs4839071 T G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.5;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNA2;Func=intronic;Gene=NM_001204269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369770.7,ENST00000633222.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 111144955 rs6701118 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.876;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNA2;Func=intronic;Gene=NM_001204269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369770.7,ENST00000633222.1;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.2853;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 111296345 rs422824 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e78690\x3bdist\x3e117476;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2094\x3bName\x3e"227944:AluSc(SINE)";avsnp150=rs422824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.5828;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.6138;1000g2015aug_all=0.596246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 111307571 rs530088 G C 53.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e89916\x3bdist\x3e106250;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1925\x3bName\x3e"227974:MER57B2(LTR)";avsnp150=rs530088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.6643;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:81,6,0 1 111323242 rs526295 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e105587\x3bdist\x3e90579;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs526295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.7738;1000g2015aug_all=0.739417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 111323361 rs527288 C A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.484;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=1.579;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e105706\x3bdist\x3e90460;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.4611;1000g2015aug_all=0.510783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:71:71,0,114 1 111323464 rs492353 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e105809\x3bdist\x3e90357;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs492353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.4611;1000g2015aug_all=0.4998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,137 1 111323502 rs528946 A C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002232,NM_001040033;GeneDetail=dist\x3e105847\x3bdist\x3e90319;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs528946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9213;1000g2015aug_eur=0.831;1000g2015aug_afr=0.8654;1000g2015aug_amr=0.9049;1000g2015aug_all=0.900759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 111434351 rs2070747 G A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.7248;1000g2015aug_all=0.558906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 111436857 rs1578956 T G 6689.77 PASS AC=2;AF=1;AN=2;DP=150;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1578956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.7248;1000g2015aug_all=0.559704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,150:150:99:6718,454,0 1 111436858 rs1936943 C T 6689.77 PASS AC=2;AF=1;AN=2;DP=150;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1936943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.7248;1000g2015aug_all=0.559704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,150:150:99:6718,454,0 1 111437129 rs1343817 A C 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.325;DP=34;ExcessHet=3.0103;FS=1.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.094;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1343817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.504;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.6138;1000g2015aug_all=0.391973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,19:34:99:519,0,490 1 111437421 rs2070749 C A 1012.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=2.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.8112;1000g2015aug_all=0.670128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1041,87,0 1 111439527 rs2070750 A G 386.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.7604;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.7378;1000g2015aug_all=0.56849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:415,30,0 1 111441485 rs11102175 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=intronic;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11102175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.8184;1000g2015aug_all=0.672324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 111441829 rs1803259 C T 2673.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD53;Func=UTR3;Gene=NM_000560,NM_001040033,NM_001320638;GeneDetail=NM_000560:c.*12C>T\x3bNM_001040033:c.*12C>T\x3bNM_001320638:c.*12C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271324.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1803259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.7349;1000g2015aug_all=0.556709;esp6500siv2_all=0.6364;ExAC_ALL=0.6871;ExAC_AFR=0.3821;ExAC_AMR=0.7935;ExAC_EAS=0.4830;ExAC_FIN=0.7267;ExAC_NFE=0.7527;ExAC_OTH=0.7148;ExAC_SAS=0.6295;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2702,246,0 1 111492807 rs2232044 G A 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.465;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIF1;Func=intronic;Gene=NM_001006945,NM_018372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494675.5,ENST00000440689.1,ENST00000485275.2,ENST00000369763.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.3271;1000g2015aug_all=0.214457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,174 1 111494194 rs2232041 C T 1344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.581;DP=113;ExcessHet=3.0103;FS=3.425;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.265;SOR=0.521;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIF1;Func=exonic;Gene=NM_018372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRIF1:NM_018372:exon2:c.G1312A:p.A438T;Gencode=Name\x3eENST00000494675.5,ENST00000440689.1,ENST00000485275.2,ENST00000369763.4;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.1081;1000g2015aug_all=0.157748;esp6500siv2_all=0.2212;ExAC_ALL=0.2059;ExAC_AFR=0.1652;ExAC_AMR=0.1020;ExAC_EAS=0.0455;ExAC_FIN=0.2554;ExAC_NFE=0.2492;ExAC_OTH=0.2037;ExAC_SAS=0.1935;SIFT_score=0.201;SIFT_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.679;LRT_pred=N;MutationTaster_score=0.975;MutationTaster_pred=P;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=1.5;FATHMM_pred=T;phyloP100way_vertebrate=-0.481;phyloP20way_mammalian=0.036;SiPhy_29way_logOdds=4.277;gerp++gt2=.;CADD=1.214;CADD_Phred=11.82;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,51:113:99:1373,0,1625 1 111550374 rs1149190 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018372,NM_001349887;GeneDetail=dist\x3e43808\x3bdist\x3e109418;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1149190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.3689;1000g2015aug_all=0.249601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 111550436 rs1149191 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018372,NM_001349887;GeneDetail=dist\x3e43870\x3bdist\x3e109356;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1149191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.5548;1000g2015aug_all=0.491813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 111583649 rs4838888 G A 117.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018372,NM_001349887;GeneDetail=dist\x3e77083\x3bdist\x3e76143;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4793\x3bName\x3e"228444:L1MA6(LINE)";avsnp150=rs4838888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.549;1000g2015aug_all=0.477436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:145,12,0 1 111583655 rs4839094 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.86;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018372,NM_001349887;GeneDetail=dist\x3e77089\x3bdist\x3e76137;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4793\x3bName\x3e"228444:L1MA6(LINE)";avsnp150=rs4839094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.549;1000g2015aug_all=0.477436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 111583673 rs4839095 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018372,NM_001349887;GeneDetail=dist\x3e77107\x3bdist\x3e76119;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4793\x3bName\x3e"228444:L1MA6(LINE)";avsnp150=rs4839095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.549;1000g2015aug_all=0.477436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 111740345 rs599134 C G 227.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2D;Func=intronic;Gene=NM_001271833,NM_024901;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357640.8,ENST00000369752.5;cytoBand=1p13.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs599134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.4957;1000g2015aug_all=0.627596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:256,21,0 1 111742714 rs638825 A C 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.801;DP=19;ExcessHet=3.0103;FS=3.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-1.817;SOR=0.129;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2D;Func=intronic;Gene=NM_001271833,NM_024901;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357640.8,ENST00000369752.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs638825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.826;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.9135;1000g2015aug_all=0.898363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:319,0,274 1 111742761 rs639210 T C 602.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.066;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=2.923;SOR=0.48;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2D;Func=intronic;Gene=NM_001271833,NM_024901;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369752.5,ENST00000357640.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs639210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.915;1000g2015aug_all=0.915335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,20:34:99:631,0,414 1 111742838 rs639306 G C 1302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-1.39;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2D;Func=intronic;Gene=NM_001271833,NM_024901;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369752.5,ENST00000357640.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs639306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.826;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.9164;1000g2015aug_all=0.911542;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,44:77:99:1331,0,965 1 111770423 rs755467 T G 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.311;DP=77;ExcessHet=3.0103;FS=7.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.816;SOR=0.677;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000369748.8,ENST00000369744.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs755467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.683;1000g2015aug_all=0.690895;esp6500siv2_all=0.6966;ExAC_ALL=0.7132;ExAC_AFR=0.6641;ExAC_AMR=0.6917;ExAC_EAS=0.6566;ExAC_FIN=0.75;ExAC_NFE=0.7169;ExAC_OTH=0.7075;ExAC_SAS=0.7593;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,43:77:99:1190,0,799 1 111773568 rs2255089 G C 935.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.726;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.936;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369748.8,ENST00000369744.6,ENST00000524472.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2255089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5575;1000g2015aug_sas=0.455;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.3329;1000g2015aug_all=0.404952;esp6500siv2_all=0.3870;ExAC_ALL=0.4347;ExAC_AFR=0.2833;ExAC_AMR=0.2711;ExAC_EAS=0.5478;ExAC_FIN=0.5481;ExAC_NFE=0.4588;ExAC_OTH=0.4606;ExAC_SAS=0.4376;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,38:60:99:964,0,566 1 111773830 rs2147789 A T 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.507;DP=23;ExcessHet=3.0103;FS=1.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.341;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369748.8,ENST00000369744.6,ENST00000524472.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2147789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.3343;1000g2015aug_all=0.411342;esp6500siv2_all=0.3920;ExAC_ALL=0.4311;ExAC_AFR=0.2948;ExAC_AMR=0.2650;ExAC_EAS=0.5468;ExAC_FIN=0.5475;ExAC_NFE=0.4546;ExAC_OTH=0.4597;ExAC_SAS=0.4290;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:413,0,283 1 111778187 rs2251715 A G 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.46;DP=60;ExcessHet=3.0103;FS=1.165;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=2.261;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369744.6,ENST00000369748.8,ENST00000466741.5,ENST00000445067.6,ENST00000524472.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.2997;1000g2015aug_all=0.341454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,17:59:99:397,0,1190 1 111778241 rs2764544 C T 2143.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369748.8,ENST00000369744.6,ENST00000466741.5,ENST00000524472.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2764544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.987;1000g2015aug_all=0.961262;esp6500siv2_all=0.9607;ExAC_ALL=0.9892;ExAC_AFR=0.8819;ExAC_AMR=0.9956;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2172,198,0 1 111778468 rs961364 G A 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.966;DP=38;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.851;SOR=0.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369744.6,ENST00000369748.8,ENST00000445067.6,ENST00000524472.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs961364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.2925;1000g2015aug_all=0.237021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,23:38:99:595,0,393 1 111778824 rs2251608 T C 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.809;DP=39;ExcessHet=3.0103;FS=1.535;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.859;SOR=0.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369744.6,ENST00000369748.8,ENST00000445067.6,ENST00000524472.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6756;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.674;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.6628;1000g2015aug_all=0.646965;esp6500siv2_all=0.6494;ExAC_ALL=0.6899;ExAC_AFR=0.5645;ExAC_AMR=0.6611;ExAC_EAS=0.6658;ExAC_FIN=0.7038;ExAC_NFE=0.6994;ExAC_OTH=0.6882;ExAC_SAS=0.7522;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:626,0,565 1 111778939 rs4839106 C T 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0.366;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369744.6,ENST00000369748.8,ENST00000466741.5,ENST00000445067.6,ENST00000524472.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.2925;1000g2015aug_all=0.234026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 111783982 rs13721 C A 1802.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.27;DP=155;ExcessHet=3.0103;FS=0.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.172;SOR=0.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=exonic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CHI3L2:NM_001025197:exon8:c.C922A:p.R308R,CHI3L2:NM_001025199:exon8:c.C715A:p.R239R,CHI3L2:NM_004000:exon9:c.C952A:p.R318R;Gencode=Name\x3eENST00000524472.5,ENST00000445067.6,ENST00000369748.8,ENST00000369744.6,ENST00000466741.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.333;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1729;1000g2015aug_all=0.190296;esp6500siv2_all=0.2330;ExAC_ALL=0.2761;ExAC_AFR=0.0909;ExAC_AMR=0.1355;ExAC_EAS=0.1875;ExAC_FIN=0.3351;ExAC_NFE=0.3450;ExAC_OTH=0.3227;ExAC_SAS=0.2330;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,72:153:99:1831,0,2079 1 111784138 rs942694 T C 1200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.476;DP=100;ExcessHet=3.0103;FS=1.648;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.429;SOR=0.872;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000524472.5,ENST00000466741.5,ENST00000369744.6,ENST00000369748.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.333;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1744;1000g2015aug_all=0.190495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,46:100:99:1229,0,1454 1 111784158 rs942693 T C 1026.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.704;DP=80;ExcessHet=3.0103;FS=2.033;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.231;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000524472.5,ENST00000466741.5,ENST00000369744.6,ENST00000369748.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.333;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1744;1000g2015aug_all=0.190495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,38:80:99:1055,0,1125 1 111784227 rs2182114 C T 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.531;DP=37;ExcessHet=3.0103;FS=1.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.061;SOR=1.075;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000524472.5,ENST00000466741.5,ENST00000369744.6,ENST00000369748.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2182114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.333;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1744;1000g2015aug_all=0.190495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:397,0,631 1 111784509 rs5003370 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369748.8,ENST00000369744.6,ENST00000524472.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5003370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.331;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1729;1000g2015aug_all=0.189297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111784510 rs5003371 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524472.5,ENST00000445067.6,ENST00000369748.8,ENST00000369744.6,ENST00000466741.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5003371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.331;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1729;1000g2015aug_all=0.189297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111784516 rs5003372 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000524472.5,ENST00000466741.5,ENST00000369744.6,ENST00000369748.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5003372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.331;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1729;1000g2015aug_all=0.189297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111784517 rs5003373 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445067.6,ENST00000524472.5,ENST00000369744.6,ENST00000369748.8,ENST00000466741.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5003373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.331;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1729;1000g2015aug_all=0.189297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111785550 rs3135451 C T 73.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=intronic;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466741.5,ENST00000369744.6,ENST00000369748.8,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3135451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.882;1000g2015aug_amr=0.9914;1000g2015aug_all=0.967452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:101,9,0 1 111785929 rs8535 C A 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.224;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=1.433;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=UTR3;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=NM_001025197:c.*93C>A\x3bNM_001025199:c.*93C>A\x3bNM_004000:c.*93C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369744.6,ENST00000369748.8,ENST00000466741.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.3012;1000g2015aug_all=0.239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,15:45:99:352,0,1236 1 111785930 rs1056825 T C 799.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-1.477;SOR=0.945;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=UTR3;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=NM_001025197:c.*94T>C\x3bNM_001025199:c.*94T>C\x3bNM_004000:c.*94T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369748.8,ENST00000369744.6,ENST00000466741.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.664;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.6153;1000g2015aug_all=0.543331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,31:46:99:828,0,537 1 111786012 rs1056831 T A 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.42;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L2;Func=UTR3;Gene=NM_001025197,NM_001025199,NM_004000;GeneDetail=NM_001025197:c.*176T>A\x3bNM_001025199:c.*176T>A\x3bNM_004000:c.*176T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369744.6,ENST00000369748.8,ENST00000466741.5,ENST00000445067.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.333;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1744;1000g2015aug_all=0.190296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:178,0,209 1 111824209 rs6537690 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-0.272;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_exonic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6537690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.1671;1000g2015aug_all=0.201278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:75:75,0,109 1 111824255 rs6537691 C T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.316;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=0.702;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_exonic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6537691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.1686;1000g2015aug_all=0.201078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:108,0,184 1 111825883 rs4406629 T C 723.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.513;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.014;SOR=0.642;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_intronic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4406629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.408;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.6282;1000g2015aug_all=0.439896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,29:62:99:752,0,920 1 111826007 rs58982671 C T 1108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.234;DP=94;ExcessHet=3.0103;FS=2.73;MLEAC=1;MLEAF=0.5;MQ=50.16;MQRankSum=0.271;QD=11.8;ReadPosRankSum=-0.254;SOR=0.436;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_exonic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58982671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.2608;1000g2015aug_all=0.216254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,44:94:99:1137,0,1318 1 111826023 rs6688201 C G 1074.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.032;DP=80;ExcessHet=3.0103;FS=1.857;MLEAC=1;MLEAF=0.5;MQ=48.19;MQRankSum=-0.123;QD=13.43;ReadPosRankSum=0.193;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_exonic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.1671;1000g2015aug_all=0.20008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,43:80:99:1103,0,999 1 111826106 rs146591607 C T 523.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.315;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.94;MQRankSum=0.233;QD=14.55;ReadPosRankSum=0;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_intronic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs146591607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0778;1000g2015aug_all=0.04373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:552,0,549 1 111826175 rs6688325 C T 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.771;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_intronic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.1671;1000g2015aug_all=0.20008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:205,0,331 1 111826609 rs4575084 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIAP2;Func=ncRNA_intronic;Gene=NR_003928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4575084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.682;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.562;1000g2015aug_amr=0.8271;1000g2015aug_all=0.726637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 111833200 rs4546919 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-2.189;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs4546919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.6282;1000g2015aug_all=0.469848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 111833254 rs4554721 G C 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=0.619;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs4554721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.6282;1000g2015aug_all=0.470647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:315,0,329 1 111833270 rs4442363 C T 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=1.798;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs4442363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.6282;1000g2015aug_all=0.470647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:315,0,329 1 111833441 rs11102235 G A 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.204;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.155;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs11102235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.6282;1000g2015aug_all=0.465455;esp6500siv2_all=.;ExAC_ALL=0.4186;ExAC_AFR=0.2422;ExAC_AMR=0.5545;ExAC_EAS=0.7548;ExAC_FIN=0.4143;ExAC_NFE=0.4589;ExAC_OTH=0.4471;ExAC_SAS=0.3897;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,25:65:99:579,0,1157 1 111833517 rs12026825 G A 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.995;DP=36;ExcessHet=3.0103;FS=5.816;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.061;SOR=1.847;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=UTR5;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=NM_001040623:c.-26789G>A\x3bNM_001258001:c.-24385G>A\x3bNM_001258002:c.-26789G>A\x3bNM_001258003:c.-24385G>A\x3bNM_001258004:c.-26789G>A\x3bNM_001258005:c.-26789G>A\x3bNM_021797:c.-24385G>A\x3bNM_201653:c.-19573G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483391.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs12026825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.6282;1000g2015aug_all=0.465455;esp6500siv2_all=.;ExAC_ALL=0.4359;ExAC_AFR=0.25;ExAC_AMR=0.5696;ExAC_EAS=0.7543;ExAC_FIN=0.4194;ExAC_NFE=0.4828;ExAC_OTH=0.4278;ExAC_SAS=0.4104;SIFT_score=0.391;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=4.2;FATHMM_pred=T;phyloP100way_vertebrate=0.356;phyloP20way_mammalian=0.359;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:445,0,669 1 111833661 rs4838897 T C 228.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369740.5,ENST00000483391.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4274\x3bName\x3e"228815:LTR66(LTR)";avsnp150=rs4838897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.8487;1000g2015aug_all=0.848043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:21:257,21,0 1 111844087 rs28857204 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483391.5,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"228825:AluY(SINE)";avsnp150=rs28857204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.2968;1000g2015aug_all=0.260383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111844103 rs28805711 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483391.5,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"228825:AluY(SINE)";avsnp150=rs28805711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.325;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.2968;1000g2015aug_all=0.260583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111854005 rs4839120 C G 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000369740.5,ENST00000483391.5,ENST00000451398.6,ENST00000343320.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9769;1000g2015aug_all=0.954273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 111854096 rs4839121 A G 844.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451398.6,ENST00000483391.5,ENST00000343320.10,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839121;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9942;1000g2015aug_all=0.981829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:873,75,0 1 111854207 rs4839122 T C 427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.694;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.01;ReadPosRankSum=-1.503;SOR=0.668;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000369740.5,ENST00000483391.5,ENST00000451398.6,ENST00000343320.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8442;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.8084;1000g2015aug_all=0.686701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,21:61:99:456,0,976 1 111854223 rs6537695 C T 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.055;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=-0.443;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483391.5,ENST00000451398.6,ENST00000343320.10,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6537695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8442;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.3381;1000g2015aug_amr=0.7262;1000g2015aug_all=0.577875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,20:63:99:430,0,1062 1 111854755 rs4423003 A C 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.17;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369740.5,ENST00000483391.5,ENST00000451398.6,ENST00000343320.10,ENST00000430615.1,ENST00000353665.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4423003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.9798;1000g2015aug_all=0.958067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 111856888 rs2786150 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000451398.6,ENST00000483391.5,ENST00000343320.10,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.4236;1000g2015aug_all=0.655551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 111857087 rs2786151 C T 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.324;DP=27;ExcessHet=3.0103;FS=1.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.291;SOR=0.264;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343320.10,ENST00000451398.6,ENST00000483391.5,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.6649;1000g2015aug_amr=0.3458;1000g2015aug_all=0.55611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:367,0,394 1 111857154 rs2786152 T C 822.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.044;DP=58;ExcessHet=3.0103;FS=2.439;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.07;SOR=0.393;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430615.1,ENST00000353665.10,ENST00000369740.5,ENST00000343320.10,ENST00000451398.6,ENST00000483391.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.4236;1000g2015aug_all=0.655751;esp6500siv2_all=0.7189;ExAC_ALL=0.6539;ExAC_AFR=0.7648;ExAC_AMR=0.3255;ExAC_EAS=0.4488;ExAC_FIN=0.6459;ExAC_NFE=0.6959;ExAC_OTH=0.66;ExAC_SAS=0.7575;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,30:58:99:851,0,776 1 111857485 rs2820072 A C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430615.1,ENST00000353665.10,ENST00000451398.6,ENST00000483391.5,ENST00000343320.10,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.3415;1000g2015aug_all=0.547724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 111858291 rs2786155 T C 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.444;DP=30;ExcessHet=3.0103;FS=3.787;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.953;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343320.10,ENST00000451398.6,ENST00000483391.5,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e852\x3bName\x3e"228842:MIR(SINE)";avsnp150=rs2786155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.2637;1000g2015aug_all=0.454273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,12:30:99:411,0,547 1 111858444 rs2786156 C T 685.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.215;DP=78;ExcessHet=3.0103;FS=0.878;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.171;SOR=0.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=UTR5;Gene=NM_001258004,NM_001258005;GeneDetail=NM_001258004:c.-1862C>T\x3bNM_001258005:c.-1862C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000343320.10,ENST00000483391.5,ENST00000451398.6,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e852\x3bName\x3e"228842:MIR(SINE)";avsnp150=rs2786156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.4496;1000g2015aug_all=0.736222;esp6500siv2_all=.;ExAC_ALL=0.8054;ExAC_AFR=0.8265;ExAC_AMR=0.6087;ExAC_EAS=0.5224;ExAC_FIN=.;ExAC_NFE=0.7436;ExAC_OTH=0.7458;ExAC_SAS=0.8357;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,30:78:99:714,0,1413 1 111858499 rs6661725 A G 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.091;DP=66;ExcessHet=3.0103;FS=2.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.96;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000483391.5,ENST00000451398.6,ENST00000343320.10,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e548\x3bName\x3e"228843:L2c(LINE)";avsnp150=rs6661725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.3458;1000g2015aug_all=0.557907;esp6500siv2_all=.;ExAC_ALL=0.6235;ExAC_AFR=0.6436;ExAC_AMR=0.4783;ExAC_EAS=0.3864;ExAC_FIN=.;ExAC_NFE=0.6030;ExAC_OTH=0.6102;ExAC_SAS=0.6365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,24:66:99:498,0,1115 1 111858589 rs2786157 G T 478.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.052;DP=31;ExcessHet=3.0103;FS=6.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-2.076;SOR=0.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000343320.10,ENST00000483391.5,ENST00000451398.6,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e548\x3bName\x3e"228843:L2c(LINE)";avsnp150=rs2786157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.2651;1000g2015aug_all=0.449481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:507,0,521 1 111858603 rs2786158 G T 364.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-1.347;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451398.6,ENST00000483391.5,ENST00000343320.10,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e548\x3bName\x3e"228843:L2c(LINE)";avsnp150=rs2786158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.2651;1000g2015aug_all=0.449481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:393,0,393 1 111861508 rs11102248 T C 483.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.225;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=0.052;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000426321.1,ENST00000343320.10,ENST00000451398.6,ENST00000483391.5,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11102248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.1006;1000g2015aug_amr=0.1599;1000g2015aug_all=0.270966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,15:26:99:512,0,363 1 111861714 rs2786161 T A 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.707;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-1.484;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=intronic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353665.10,ENST00000430615.1,ENST00000426321.1,ENST00000343320.10,ENST00000483391.5,ENST00000451398.6,ENST00000369740.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.4135;1000g2015aug_all=0.623602;esp6500siv2_all=0.6820;ExAC_ALL=0.6365;ExAC_AFR=0.6802;ExAC_AMR=0.3174;ExAC_EAS=0.4422;ExAC_FIN=0.6215;ExAC_NFE=0.6842;ExAC_OTH=0.6488;ExAC_SAS=0.7474;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,36:49:99:1067,0,329 1 111861841 rs2275253 A G 1568.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.885;DP=94;ExcessHet=3.0103;FS=6.676;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.103;SOR=0.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=exonic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CHIA:NM_001258002:exon6:c.A532G:p.I178V,CHIA:NM_021797:exon7:c.A691G:p.I231V,CHIA:NM_001040623:exon8:c.A532G:p.I178V,CHIA:NM_001258003:exon8:c.A691G:p.I231V,CHIA:NM_001258001:exon9:c.A691G:p.I231V,CHIA:NM_001258005:exon9:c.A532G:p.I178V,CHIA:NM_001258004:exon10:c.A532G:p.I178V,CHIA:NM_201653:exon10:c.A1015G:p.I339V;Gencode=Name\x3eENST00000430615.1,ENST00000353665.10,ENST00000451398.6,ENST00000483391.5,ENST00000343320.10,ENST00000369740.5,ENST00000426321.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.4251;1000g2015aug_all=0.659145;esp6500siv2_all=0.7224;ExAC_ALL=0.6554;ExAC_AFR=0.7777;ExAC_AMR=0.3255;ExAC_EAS=0.4476;ExAC_FIN=0.6445;ExAC_NFE=0.6960;ExAC_OTH=0.6608;ExAC_SAS=0.7581;SIFT_score=0.752;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.396;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.5;MutationAssessor_pred=N;FATHMM_score=3.55;FATHMM_pred=T;phyloP100way_vertebrate=-0.443;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=8.042;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,54:94:99:1597,0,1037 1 111861974 rs2275254 T C 1523.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.354;DP=109;ExcessHet=3.0103;FS=1.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.098;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=exonic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CHIA:NM_001258002:exon7:c.T578C:p.F193S,CHIA:NM_021797:exon8:c.T737C:p.F246S,CHIA:NM_001040623:exon9:c.T578C:p.F193S,CHIA:NM_001258003:exon9:c.T737C:p.F246S,CHIA:NM_001258001:exon10:c.T737C:p.F246S,CHIA:NM_001258005:exon10:c.T578C:p.F193S,CHIA:NM_001258004:exon11:c.T578C:p.F193S,CHIA:NM_201653:exon11:c.T1061C:p.F354S;Gencode=Name\x3eENST00000426321.1,ENST00000483391.5,ENST00000451398.6,ENST00000343320.10,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.5954;1000g2015aug_afr=0.3154;1000g2015aug_amr=0.3098;1000g2015aug_all=0.442292;esp6500siv2_all=0.4995;ExAC_ALL=0.5082;ExAC_AFR=0.3437;ExAC_AMR=0.2615;ExAC_EAS=0.3459;ExAC_FIN=0.5468;ExAC_NFE=0.5734;ExAC_OTH=0.5277;ExAC_SAS=0.5899;SIFT_score=0.023;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.099;LRT_pred=N;MutationTaster_score=0.215;MutationTaster_pred=P;MutationAssessor_score=3.11;MutationAssessor_pred=M;FATHMM_score=3.4;FATHMM_pred=T;phyloP100way_vertebrate=2.757;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=9.355;gerp++gt2=3.8;CADD=4.984;CADD_Phred=25.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,56:109:99:1552,0,1319 1 111862952 rs2256721 T G 1575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.32;DP=133;ExcessHet=3.0103;FS=3.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.313;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIA;Func=exonic;Gene=NM_001040623,NM_001258001,NM_001258002,NM_001258003,NM_001258004,NM_001258005,NM_021797,NM_201653;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CHIA:NM_001258002:exon8:c.T812G:p.V271G,CHIA:NM_021797:exon9:c.T971G:p.V324G,CHIA:NM_001040623:exon10:c.T812G:p.V271G,CHIA:NM_001258003:exon10:c.T971G:p.V324G,CHIA:NM_001258001:exon11:c.T971G:p.V324G,CHIA:NM_001258005:exon11:c.T812G:p.V271G,CHIA:NM_001258004:exon12:c.T812G:p.V271G,CHIA:NM_201653:exon12:c.T1295G:p.V432G;Gencode=Name\x3eENST00000426321.1,ENST00000343320.10,ENST00000483391.5,ENST00000451398.6,ENST00000369740.5,ENST00000353665.10,ENST00000430615.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2256721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.7897;1000g2015aug_amr=0.4236;1000g2015aug_all=0.657348;esp6500siv2_all=0.7207;ExAC_ALL=0.6552;ExAC_AFR=0.7718;ExAC_AMR=0.3246;ExAC_EAS=0.4492;ExAC_FIN=0.6452;ExAC_NFE=0.6963;ExAC_OTH=0.6623;ExAC_SAS=0.7588;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.520;MutationTaster_pred=P;MutationAssessor_score=-3.04;MutationAssessor_pred=N;FATHMM_score=1.79;FATHMM_pred=T;phyloP100way_vertebrate=2.285;phyloP20way_mammalian=-0.308;SiPhy_29way_logOdds=4.952;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,57:132:99:1604,0,2027 1 111866640 rs6690266 C A 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.845;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.877;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021797,NM_181643;GeneDetail=dist\x3e3452\x3bdist\x3e22542;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.1902;1000g2015aug_all=0.29353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,12:25:99:392,0,400 1 111872647 rs61803550 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021797,NM_181643;GeneDetail=dist\x3e9459\x3bdist\x3e16535;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11851\x3bName\x3e"228866:L1PREC2(LINE)";avsnp150=rs61803550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.998;1000g2015aug_afr=1;1000g2015aug_amr=0.9957;1000g2015aug_all=0.998802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111904487 rs10857879 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_181643,NR_029429;GeneDetail=dist\x3e8848\x3bdist\x3e22654;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7178\x3bName\x3e"228901:LTR5B(LTR)";avsnp150=rs10857879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.0838;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.098;1000g2015aug_all=0.0924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111904494 rs6663292 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_181643,NR_029429;GeneDetail=dist\x3e8855\x3bdist\x3e22647;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7178\x3bName\x3e"228901:LTR5B(LTR)";avsnp150=rs6663292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.727;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.643;1000g2015aug_amr=0.3559;1000g2015aug_all=0.616813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 111957097 rs7825 C G 624.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.209;DP=49;ExcessHet=3.0103;FS=5.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.06;SOR=0.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=exonic;Gene=NM_002557;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OVGP1:NM_002557:exon11:c.G2026C:p.E676Q;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.353;1000g2015aug_all=0.622404;esp6500siv2_all=0.5247;ExAC_ALL=0.5127;ExAC_AFR=0.6911;ExAC_AMR=0.2990;ExAC_EAS=0.7568;ExAC_FIN=0.4715;ExAC_NFE=0.4506;ExAC_OTH=0.4945;ExAC_SAS=0.6923;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=3.46;FATHMM_pred=T;phyloP100way_vertebrate=0.093;phyloP20way_mammalian=-0.856;SiPhy_29way_logOdds=2.775;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,24:49:99:653,0,763 1 111957245 rs9629 G A 1914.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.011;DP=148;ExcessHet=3.0103;FS=1.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.728;SOR=0.815;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=exonic;Gene=NM_002557;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OVGP1:NM_002557:exon11:c.C1878T:p.P626P;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.115;1000g2015aug_amr=0.1945;1000g2015aug_all=0.191693;esp6500siv2_all=0.2386;ExAC_ALL=0.2556;ExAC_AFR=0.1384;ExAC_AMR=0.1792;ExAC_EAS=0.1873;ExAC_FIN=0.3061;ExAC_NFE=0.2915;ExAC_OTH=0.2577;ExAC_SAS=0.2535;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,73:148:99:1943,0,1988 1 111957693 rs2485319 A G 1296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.575;DP=128;ExcessHet=3.0103;FS=8.516;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.044;SOR=1.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=exonic;Gene=NM_002557;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OVGP1:NM_002557:exon11:c.T1430C:p.M477T;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2485319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.7572;1000g2015aug_amr=0.3573;1000g2015aug_all=0.631789;esp6500siv2_all=0.5318;ExAC_ALL=0.5137;ExAC_AFR=0.7140;ExAC_AMR=0.2971;ExAC_EAS=0.7644;ExAC_FIN=0.4713;ExAC_NFE=0.4490;ExAC_OTH=0.4956;ExAC_SAS=0.6876;SIFT_score=0.606;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=3.74;FATHMM_pred=T;phyloP100way_vertebrate=-1.814;phyloP20way_mammalian=-0.569;SiPhy_29way_logOdds=4.432;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,51:128:99:1325,0,2120 1 111959075 rs145466502 C T 426.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.543;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.305;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=exonic;Gene=NM_002557;GeneDetail=.;ExonicFunc=stopgain;AAChange=OVGP1:NM_002557:exon10:c.G1026A:p.W342X;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs145466502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0002;ExAC_ALL=8.308e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.292e-05;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.736;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.118;phyloP20way_mammalian=0.794;SiPhy_29way_logOdds=4.096;gerp++gt2=2.98;CADD=9.587;CADD_Phred=35;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,21:50:99:455,0,720 1 111962455 rs1264881 C T 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.795;DP=16;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=1.249;SOR=0.072;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=intronic;Gene=NM_002557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.3127;1000g2015aug_all=0.463059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:168,0,370 1 111966291 rs954739 C T 1219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=97;ExcessHet=3.0103;FS=0.759;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.841;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=exonic;Gene=NM_002557;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OVGP1:NM_002557:exon5:c.G357A:p.K119K;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs954739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.1282;1000g2015aug_all=0.15016;esp6500siv2_all=0.2048;ExAC_ALL=0.2227;ExAC_AFR=0.0823;ExAC_AMR=0.0862;ExAC_EAS=0.1179;ExAC_FIN=0.2731;ExAC_NFE=0.2706;ExAC_OTH=0.2203;ExAC_SAS=0.2483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,48:97:99:1248,0,1212 1 111968316 rs1264888 G A 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.754;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=-1.77;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=intronic;Gene=NM_002557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.5605;1000g2015aug_amr=0.3069;1000g2015aug_all=0.541134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,4:15:99:124,0,402 1 111969294 rs1264892 A G 1007.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.29;DP=101;ExcessHet=3.0103;FS=3.714;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.695;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=intronic;Gene=NM_002557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.3343;1000g2015aug_all=0.597244;esp6500siv2_all=0.5012;ExAC_ALL=0.5307;ExAC_AFR=0.7250;ExAC_AMR=0.3480;ExAC_EAS=0.7662;ExAC_FIN=0.4961;ExAC_NFE=0.4659;ExAC_OTH=0.5027;ExAC_SAS=0.6300;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,44:101:99:1036,0,1656 1 111969307 rs2275795 G C 961.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.896;DP=100;ExcessHet=3.0103;FS=2.637;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.926;SOR=0.702;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=intronic;Gene=NM_002557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.239;1000g2015aug_amr=0.1628;1000g2015aug_all=0.277157;esp6500siv2_all=0.2885;ExAC_ALL=0.3723;ExAC_AFR=0.2863;ExAC_AMR=0.1835;ExAC_EAS=0.3872;ExAC_FIN=0.3586;ExAC_NFE=0.3886;ExAC_OTH=0.3436;ExAC_SAS=0.4331;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,43:100:99:990,0,1689 1 111969719 rs1264894 A G 2013.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.031;DP=141;ExcessHet=3.0103;FS=2.146;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.755;SOR=0.928;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOVGP1;Func=intronic;Gene=NM_002557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369732.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.7035;1000g2015aug_amr=0.3271;1000g2015aug_all=0.58147;esp6500siv2_all=0.4874;ExAC_ALL=0.4703;ExAC_AFR=0.6633;ExAC_AMR=0.2592;ExAC_EAS=0.7422;ExAC_FIN=0.4536;ExAC_NFE=0.4091;ExAC_OTH=0.4545;ExAC_SAS=0.6087;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,72:140:99:2042,0,1694 1 111985229 rs1264902 G T 710.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.373;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.037;SOR=0.65;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR77;Func=intronic;Gene=NM_001317062,NM_001317063,NM_001317064,NM_024102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235090.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.7035;1000g2015aug_amr=0.3242;1000g2015aug_all=0.580871;esp6500siv2_all=0.4867;ExAC_ALL=0.4973;ExAC_AFR=0.6637;ExAC_AMR=0.2832;ExAC_EAS=0.7521;ExAC_FIN=0.4833;ExAC_NFE=0.4307;ExAC_OTH=0.4887;ExAC_SAS=0.6223;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,28:60:99:739,0,969 1 111990265 rs2298185 T C 944.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.021;DP=60;ExcessHet=3.0103;FS=1.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.355;SOR=0.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR77;Func=intronic;Gene=NM_001317062,NM_001317063,NM_001317064,NM_024102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235090.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.1268;1000g2015aug_all=0.147564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,36:60:99:973,0,652 1 111991845 rs1270853 C A 910.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.145;DP=72;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.217;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR77,ATP5F1;Func=UTR5;Gene=NM_001317062,NM_001317063,NM_001317064,NM_001688,NM_024102;GeneDetail=NM_001317062:c.-54G>T\x3bNM_001317063:c.-54G>T\x3bNM_001317064:c.-54G>T\x3bNM_001688:c.-319C>A\x3bNM_024102:c.-54G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369722.7,ENST00000235090.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1270853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.3098;1000g2015aug_all=0.532149;esp6500siv2_all=.;ExAC_ALL=0.5549;ExAC_AFR=0.5518;ExAC_AMR=0.4364;ExAC_EAS=0.7532;ExAC_FIN=0.5565;ExAC_NFE=0.4562;ExAC_OTH=0.5286;ExAC_SAS=0.6186;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,35:72:99:939,0,1091 1 111992095 rs1264899 C T 1215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=141;ExcessHet=3.0103;FS=4.173;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=1.388;SOR=0.581;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP5F1;Func=UTR5;Gene=NM_001688;GeneDetail=NM_001688:c.-69C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369722.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1264899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.3936;1000g2015aug_afr=0.3888;1000g2015aug_amr=0.2896;1000g2015aug_all=0.492412;esp6500siv2_all=0.4036;ExAC_ALL=0.4466;ExAC_AFR=0.4067;ExAC_AMR=0.2437;ExAC_EAS=0.7438;ExAC_FIN=0.4568;ExAC_NFE=0.4088;ExAC_OTH=0.4338;ExAC_SAS=0.6075;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,50:141:99:1244,0,2545 1 111997063 rs12039127 G T 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.299;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.201;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP5F1;Func=intronic;Gene=NM_001688;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483994.1,ENST00000369722.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e35\x3bName\x3e"229053:(TTG)n(Simple_repeat)";avsnp150=rs12039127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0936502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:311,0,181 1 112018657 rs6703267 G A 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.495;DP=61;ExcessHet=3.0103;FS=5.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.47;SOR=1.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf162;Func=exonic;Gene=NM_001300834,NM_001300835,NM_174896;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf162:NM_001300834:exon2:c.G7A:p.G3S,C1orf162:NM_174896:exon2:c.G7A:p.G3S;Gencode=Name\x3eENST00000369718.3,ENST00000343534.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1379;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.1398;1000g2015aug_all=0.190096;esp6500siv2_all=0.2447;ExAC_ALL=0.2344;ExAC_AFR=0.1942;ExAC_AMR=0.0945;ExAC_EAS=0.1161;ExAC_FIN=0.2757;ExAC_NFE=0.2727;ExAC_OTH=0.2241;ExAC_SAS=0.2486;SIFT_score=0.675;SIFT_pred=T;Polyphen2_HDIV_score=0.408;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_pred=B;LRT_score=0.274;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.87;FATHMM_pred=T;phyloP100way_vertebrate=-1.126;phyloP20way_mammalian=-0.934;SiPhy_29way_logOdds=0.946;gerp++gt2=.;CADD=2.076;CADD_Phred=16.70;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,32:61:99:856,0,858 1 112019159 rs6692745 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf162;Func=intronic;Gene=NM_001300834,NM_001300835,NM_174896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369718.3,ENST00000343534.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6692745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.2046;1000g2015aug_all=0.390775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 112020224 rs115634476 C A 246.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.42;ReadPosRankSum=1.085;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf162;Func=intronic;Gene=NM_001300834,NM_001300835,NM_174896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343534.9,ENST00000369718.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"229100:(CCAC)n(Simple_repeat)";avsnp150=rs115634476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.7121;ExAC_AFR=0.4840;ExAC_AMR=0.7580;ExAC_EAS=0.4499;ExAC_FIN=0.7917;ExAC_NFE=0.7938;ExAC_OTH=0.7483;ExAC_SAS=0.5708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:84:275,0,84 1 112026152 rs7737 C T 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.231;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=0.984;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=UTR3;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=NM_001081976:c.*157G>A\x3bNM_001302680:c.*157G>A\x3bNM_020683:c.*157G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369716.8,ENST00000414219.5,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.2622;1000g2015aug_all=0.139577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:518,0,385 1 112026198 rs9025 T A 735.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.245;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.845;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=UTR3;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=NM_001081976:c.*111A>T\x3bNM_001302680:c.*111A>T\x3bNM_020683:c.*111A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369716.8,ENST00000414219.5,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.1398;1000g2015aug_all=0.096246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,27:53:99:764,0,654 1 112026676 rs17027796 C T 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.089;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000414219.5,ENST00000369716.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17027796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.1564;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.27;1000g2015aug_amr=0.1009;1000g2015aug_all=0.204673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:280,0,357 1 112028577 rs2275796 A T 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.762;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.622;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000369716.8,ENST00000414219.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e777\x3bName\x3e"229115:MLT1O(LTR)";avsnp150=rs2275796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.6196;1000g2015aug_all=0.43111;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:221,0,255 1 112029193 rs2252739 A G 1069.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414219.5,ENST00000369716.8,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.84;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.8631;1000g2015aug_all=0.790735;esp6500siv2_all=0.7951;ExAC_ALL=0.8142;ExAC_AFR=0.7479;ExAC_AMR=0.8538;ExAC_EAS=0.7876;ExAC_FIN=0.8518;ExAC_NFE=0.8224;ExAC_OTH=0.8344;ExAC_SAS=0.7926;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1098,106,0 1 112029325 rs2800906 A G 1905.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.725;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414219.5,ENST00000369716.8,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2800906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.836;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.8588;1000g2015aug_all=0.787939;esp6500siv2_all=0.7921;ExAC_ALL=0.8138;ExAC_AFR=0.7415;ExAC_AMR=0.8542;ExAC_EAS=0.7887;ExAC_FIN=0.8531;ExAC_NFE=0.8223;ExAC_OTH=0.8269;ExAC_SAS=0.7919;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1934,183,0 1 112029688 rs2800908 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000369716.8,ENST00000414219.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2800908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.834;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.8617;1000g2015aug_all=0.780751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 112031278 rs41282516 G T 1209.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.368;DP=90;ExcessHet=3.0103;FS=4.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.658;SOR=0.315;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414219.5,ENST00000369716.8,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41282516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.059;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0583067;esp6500siv2_all=0.1089;ExAC_ALL=0.0977;ExAC_AFR=0.0588;ExAC_AMR=0.0618;ExAC_EAS=0.0002;ExAC_FIN=0.0780;ExAC_NFE=0.1355;ExAC_OTH=0.1156;ExAC_SAS=0.0405;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,47:90:99:1238,0,1240 1 112032126 rs58712964 T C 1036.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=1.448;SOR=0.774;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000414219.5,ENST00000369716.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2009\x3bName\x3e"229122:MLT1B(LTR)";avsnp150=rs58712964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.18;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.469;1000g2015aug_amr=0.1383;1000g2015aug_all=0.270168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,27:49:99:1065,0,1174 1 112032131 rs61002431 T G 1030.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.152;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.772;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000369716.8,ENST00000414219.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2009\x3bName\x3e"229122:MLT1B(LTR)";avsnp150=rs61002431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.254;1000g2015aug_sas=0.18;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.1383;1000g2015aug_all=0.268171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:1059,0,1235 1 112032205 rs7544118 C T 1157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.082;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.043;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369716.8,ENST00000414219.5,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7544118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.18;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.1383;1000g2015aug_all=0.266973;esp6500siv2_all=.;ExAC_ALL=0.1995;ExAC_AFR=0.4065;ExAC_AMR=0.1864;ExAC_EAS=0.2314;ExAC_FIN=0.225;ExAC_NFE=0.1890;ExAC_OTH=0.1714;ExAC_SAS=0.1406;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,40:74:99:1186,0,981 1 112032347 rs2789539 G A 893.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.188;DP=66;ExcessHet=3.0103;FS=1.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.276;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369716.8,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.7219;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,32:66:99:922,0,1003 1 112033515 rs2252198 T C 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.784;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.165;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369716.8,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.2965;1000g2015aug_amr=0.7277;1000g2015aug_all=0.513778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:438,0,472 1 112033519 rs2252197 A G 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.212;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.248;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000369716.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.2958;1000g2015aug_amr=0.7277;1000g2015aug_all=0.513578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:438,0,472 1 112042383 rs923 G A 857.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=6.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3,ADORA3;Func=UTR3;Gene=NM_000677,NM_001302678,NM_001302679;GeneDetail=NM_000677:c.*189C>T\x3bNM_001302678:c.*838C>T\x3bNM_001302679:c.*189C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000241356.4,ENST00000369716.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7569;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.834;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.8602;1000g2015aug_all=0.773363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:886,72,0 1 112042632 rs2229155 A G 3771.77 PASS AC=2;AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.838;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3,ADORA3;Func=exonic;Gene=NM_000677,NM_001302679;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADORA3:NM_000677:exon2:c.T897C:p.A299A,ADORA3:NM_001302679:exon2:c.T462C:p.A154A;Gencode=Name\x3eENST00000369717.8,ENST00000241356.4,ENST00000369716.8,ENST00000632535.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.834;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.8602;1000g2015aug_all=0.773562;esp6500siv2_all=0.7900;ExAC_ALL=0.8065;ExAC_AFR=0.7378;ExAC_AMR=0.8505;ExAC_EAS=0.7683;ExAC_FIN=0.8510;ExAC_NFE=0.8195;ExAC_OTH=0.8293;ExAC_SAS=0.7677;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,116:116:99:3800,348,0 1 112042787 rs35511654 T G 999.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.248;DP=71;ExcessHet=3.0103;FS=0.899;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.441;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA3,TMIGD3;Func=exonic;Gene=NM_000677,NM_001302679;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADORA3:NM_000677:exon2:c.A742C:p.I248L,ADORA3:NM_001302679:exon2:c.A307C:p.I103L;Gencode=Name\x3eENST00000369716.8,ENST00000632535.1,ENST00000369717.8,ENST00000241356.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35511654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0595048;esp6500siv2_all=0.1100;ExAC_ALL=0.0947;ExAC_AFR=0.0585;ExAC_AMR=0.0616;ExAC_EAS=0.0002;ExAC_FIN=0.0782;ExAC_NFE=0.1349;ExAC_OTH=0.1162;ExAC_SAS=0.0333;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.928;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.212;MutationTaster_pred=P;MutationAssessor_score=0.96;MutationAssessor_pred=L;FATHMM_score=-0.84;FATHMM_pred=T;phyloP100way_vertebrate=3.206;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=10.992;gerp++gt2=3.86;CADD=1.816;CADD_Phred=15.08;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,37:70:99:1028,0,906 1 112043328 rs2798566 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA3,TMIGD3;Func=intronic;Gene=NM_000677,NM_001081976,NM_001302678,NM_001302679,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241356.4,ENST00000369717.8,ENST00000632535.1,ENST00000369716.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2798566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.834;1000g2015aug_afr=0.736;1000g2015aug_amr=0.8602;1000g2015aug_all=0.773562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 112045463 rs12127443 T A 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA3,TMIGD3;Func=intronic;Gene=NM_000677,NM_001081976,NM_001302678,NM_001302679,NM_001302680,NM_020683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000241356.4,ENST00000369716.8,ENST00000632535.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.8026;1000g2015aug_all=0.701478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 112046197 rs41282522 C G 339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.409;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=1.281;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3,ADORA3;Func=UTR5;Gene=NM_000677,NM_001302678,NM_001302679,NM_020683;GeneDetail=NM_000677:c.-221G>C\x3bNM_001302678:c.-221G>C\x3bNM_001302679:c.-3104G>C\x3bNM_020683:c.-221G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241356.4,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41282522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.062;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:368,0,243 1 112106247 rs2364815 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356415.5,ENST00000369717.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e385\x3bName\x3e"229269:MIRc(SINE)";avsnp150=rs2364815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.2954;1000g2015aug_all=0.228035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 112106444 rs1591712 G A 825.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.86;DP=48;ExcessHet=3.0103;FS=2.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-2.405;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMIGD3;Func=intronic;Gene=NM_001081976,NM_001302680;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369717.8,ENST00000356415.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e385\x3bName\x3e"229269:MIRc(SINE)";avsnp150=rs1591712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.823;1000g2015aug_amr=0.9222;1000g2015aug_all=0.894768;esp6500siv2_all=0.8948;ExAC_ALL=0.9086;ExAC_AFR=0.8310;ExAC_AMR=0.9636;ExAC_EAS=0.9347;ExAC_FIN=0.9097;ExAC_NFE=0.9095;ExAC_OTH=0.8978;ExAC_SAS=0.8985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,34:48:99:854,0,305 1 112191408 rs17665274 T C 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.166;DP=12;ExcessHet=3.0103;FS=6.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=1.164;SOR=0.039;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1A;Func=intronic;Gene=NM_001010935,NM_001291896,NM_002884;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356415.5,ENST00000369709.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=Score\x3e0.89916\x3bName\x3echr2:189311202;Repeat=.;avsnp150=rs17665274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.16;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.1311;1000g2015aug_all=0.122804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:196,0,131 1 112199285 rs511584 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1A;Func=intronic;Gene=NM_001010935,NM_001291896,NM_002884;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369709.3,ENST00000356415.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e904\x3bName\x3e"229464:L2(LINE)";avsnp150=rs511584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9438;1000g2015aug_all=0.96226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112218040 rs113746064 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1A;Func=intronic;Gene=NM_001010935,NM_001291896,NM_002884;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369709.3,ENST00000356415.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2475\x3bName\x3e"229515:AluY(SINE)";avsnp150=rs113746064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1297;1000g2015aug_all=0.120807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112234084 rs10489469 G T 579.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.073;DP=58;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.133;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAP1A;Func=intronic;Gene=NM_001010935,NM_001291896,NM_002884;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356415.5,ENST00000369709.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1297;1000g2015aug_all=0.11861;esp6500siv2_all=0.1175;ExAC_ALL=0.1541;ExAC_AFR=0.0277;ExAC_AMR=0.1489;ExAC_EAS=0.1441;ExAC_FIN=0.2211;ExAC_NFE=0.1636;ExAC_OTH=0.1507;ExAC_SAS=0.1779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,26:58:99:608,0,777 1 112262702 rs488623 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002884,NM_019099;GeneDetail=dist\x3e3385\x3bdist\x3e1984;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs488623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.4784;1000g2015aug_all=0.433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112269872 rs197434 G A 2865.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=2.274;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM212B;Func=exonic;Gene=NM_019099,NM_198926;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F;Gencode=Name\x3eENST00000534365.1,ENST00000444059.2,ENST00000357260.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.8855;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.7464;1000g2015aug_all=0.860623;esp6500siv2_all=0.8575;ExAC_ALL=0.8237;ExAC_AFR=0.9382;ExAC_AMR=0.6966;ExAC_EAS=0.8253;ExAC_FIN=0.8070;ExAC_NFE=0.8176;ExAC_OTH=0.8062;ExAC_SAS=0.8724;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2894,243,0 1 112274608 rs108406 C T 40.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM212B;Func=intronic;Gene=NM_019099,NM_198926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444059.2,ENST00000534365.1,ENST00000357260.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs108406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9653;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.8746;1000g2015aug_all=0.888578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:69,0,27 1 112274653 rs197437 A G 50.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM212B;Func=intronic;Gene=NM_019099,NM_198926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444059.2,ENST00000534365.1,ENST00000357260.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.0735;1000g2015aug_all=0.108427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:18:79,0,18 1 112298166 rs197391 G C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.368;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM212B;Func=intronic;Gene=NM_198926;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369702.4,ENST00000444059.2;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1153;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.0908;1000g2015aug_all=0.162939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 112298378 rs28372703 T C 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.585;DP=41;ExcessHet=3.0103;FS=1.259;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.702;SOR=0.394;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20,FAM212B;Func=UTR5;Gene=NM_007204,NM_198926;GeneDetail=NM_007204:c.-169T>C\x3bNM_198926:c.-44A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444059.2,ENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28372703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.2248;1000g2015aug_all=0.144569;esp6500siv2_all=0.1274;ExAC_ALL=0.1559;ExAC_AFR=0.1085;ExAC_AMR=0.2834;ExAC_EAS=0.1801;ExAC_FIN=0.1811;ExAC_NFE=0.1442;ExAC_OTH=0.1685;ExAC_SAS=0.1181;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,17:41:99:416,0,743 1 112298582 rs197392 A G 1159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.078;DP=69;ExcessHet=3.0103;FS=6.63;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.923;SOR=0.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDX20:NM_007204:exon1:c.A36G:p.A12A;Gencode=Name\x3eENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197392;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.147;1000g2015aug_all=0.242412;esp6500siv2_all=0.2736;ExAC_ALL=0.2050;ExAC_AFR=0.5141;ExAC_AMR=0.0866;ExAC_EAS=0.0426;ExAC_FIN=0.2431;ExAC_NFE=0.2090;ExAC_OTH=0.1808;ExAC_SAS=0.1780;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,41:69:99:1188,0,758 1 112298829 rs197393 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDX20:NM_007204:exon1:c.T283C:p.L95L;Gencode=Name\x3eENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.5014;1000g2015aug_all=0.472244;esp6500siv2_all=0.3590;ExAC_ALL=0.4487;ExAC_AFR=0.6926;ExAC_AMR=0.5806;ExAC_EAS=0.3373;ExAC_FIN=0.4444;ExAC_NFE=0.4676;ExAC_OTH=0.5333;ExAC_SAS=0.4020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 112302208 rs560170 G T 931.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.303;DP=83;ExcessHet=3.0103;FS=1.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.187;SOR=0.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs560170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.1155;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2262;1000g2015aug_all=0.134984;esp6500siv2_all=0.1160;ExAC_ALL=0.1530;ExAC_AFR=0.0696;ExAC_AMR=0.2831;ExAC_EAS=0.1795;ExAC_FIN=0.1819;ExAC_NFE=0.1445;ExAC_OTH=0.1704;ExAC_SAS=0.1202;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,39:83:99:960,0,1101 1 112302219 rs538779 G A 904.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.693;DP=77;ExcessHet=3.0103;FS=1.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.287;SOR=0.926;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs538779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.2622;1000g2015aug_all=0.187899;esp6500siv2_all=0.1806;ExAC_ALL=0.2145;ExAC_AFR=0.1345;ExAC_AMR=0.3072;ExAC_EAS=0.2191;ExAC_FIN=0.2569;ExAC_NFE=0.2144;ExAC_OTH=0.2252;ExAC_SAS=0.1780;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,36:77:99:933,0,937 1 112302412 rs197399 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2868\x3bName\x3e"229661:AluY(SINE)";avsnp150=rs197399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.8271;1000g2015aug_all=0.865815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 112303260 rs169093 A G 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.576;DP=46;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.517;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000475700.1,ENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs169093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.0821;1000g2015aug_all=0.130192;esp6500siv2_all=0.1710;ExAC_ALL=0.1121;ExAC_AFR=0.2870;ExAC_AMR=0.0481;ExAC_EAS=0.0017;ExAC_FIN=0.1366;ExAC_NFE=0.1152;ExAC_OTH=0.0874;ExAC_SAS=0.0884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:584,0,614 1 112304721 rs41282538 G C 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=0.854;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369702.4,ENST00000475700.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41282538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0708866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:173,0,101 1 112305228 rs519155 A G 318.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.389;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-2.177;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=intronic;Gene=NM_007204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000475700.1,ENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs519155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1262;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.0965;1000g2015aug_all=0.166134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:347,0,401 1 112308953 rs197412 T C 2269.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=0.844;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DDX20:NM_007204:exon11:c.T1907C:p.I636T;Gencode=Name\x3eENST00000369702.4,ENST00000475700.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.5072;1000g2015aug_all=0.474441;esp6500siv2_all=0.4840;ExAC_ALL=0.4271;ExAC_AFR=0.6796;ExAC_AMR=0.5482;ExAC_EAS=0.3512;ExAC_FIN=0.4558;ExAC_NFE=0.3966;ExAC_OTH=0.4031;ExAC_SAS=0.3359;SIFT_score=0.652;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.79;MutationAssessor_pred=N;FATHMM_score=1.47;FATHMM_pred=T;phyloP100way_vertebrate=1.933;phyloP20way_mammalian=-0.339;SiPhy_29way_logOdds=5.181;gerp++gt2=3.86;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2298,207,0 1 112308972 rs197413 G A 2390.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=0.864;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDX20:NM_007204:exon11:c.G1926A:p.V642V;Gencode=Name\x3eENST00000369702.4,ENST00000475700.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.5115;1000g2015aug_all=0.479832;esp6500siv2_all=0.4875;ExAC_ALL=0.4274;ExAC_AFR=0.6898;ExAC_AMR=0.5480;ExAC_EAS=0.3510;ExAC_FIN=0.4556;ExAC_NFE=0.3958;ExAC_OTH=0.4031;ExAC_SAS=0.3358;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2419,222,0 1 112309123 rs197414 C A 690.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.302;DP=60;ExcessHet=3.0103;FS=0.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.222;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DDX20:NM_007204:exon11:c.C2077A:p.R693S;Gencode=Name\x3eENST00000475700.1,ENST00000369702.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs197414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.0965;1000g2015aug_all=0.165935;esp6500siv2_all=0.2096;ExAC_ALL=0.1274;ExAC_AFR=0.3815;ExAC_AMR=0.0564;ExAC_EAS=0.0017;ExAC_FIN=0.1410;ExAC_NFE=0.1250;ExAC_OTH=0.0969;ExAC_SAS=0.0896;SIFT_score=0.406;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.5;FATHMM_pred=T;phyloP100way_vertebrate=1.022;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=8.351;gerp++gt2=4.09;CADD=1.509;CADD_Phred=13.36;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,28:60:99:719,0,1018 1 112309331 rs85276 T C 1343.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.424;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.165;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX20;Func=exonic;Gene=NM_007204;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DDX20:NM_007204:exon11:c.T2285C:p.I762T;Gencode=Name\x3eENST00000369702.4,ENST00000475700.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs85276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.0965;1000g2015aug_all=0.165935;esp6500siv2_all=0.2097;ExAC_ALL=0.1274;ExAC_AFR=0.3812;ExAC_AMR=0.0565;ExAC_EAS=0.0017;ExAC_FIN=0.1408;ExAC_NFE=0.1249;ExAC_OTH=0.0969;ExAC_SAS=0.0896;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.895;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.845;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;phyloP100way_vertebrate=1.449;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=8.623;gerp++gt2=4.85;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,52:107:99:1372,0,1642 1 112321032 rs640029 T A 359.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.399;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.461;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000315987.6,ENST00000369697.5,ENST00000302127.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs640029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.134;1000g2015aug_all=0.192692;esp6500siv2_all=0.2462;ExAC_ALL=0.1803;ExAC_AFR=0.3437;ExAC_AMR=0.0781;ExAC_EAS=0.0405;ExAC_FIN=0.2158;ExAC_NFE=0.1960;ExAC_OTH=0.1504;ExAC_SAS=0.1471;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:388,0,479 1 112321322 rs2813867 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000315987.6,ENST00000369697.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2813867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9751;1000g2015aug_afr=1;1000g2015aug_amr=0.9697;1000g2015aug_all=0.990815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 112329551 rs3738298 G T 1150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.836;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=1.185;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000369697.5,ENST00000315987.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738298;cosmic70=.;CLNALLELEID=249363;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.162;1000g2015aug_afr=0.205;1000g2015aug_amr=0.1095;1000g2015aug_all=0.192692;esp6500siv2_all=0.1523;ExAC_ALL=0.1652;ExAC_AFR=0.1795;ExAC_AMR=0.1117;ExAC_EAS=0.2066;ExAC_FIN=0.2098;ExAC_NFE=0.1492;ExAC_OTH=0.1839;ExAC_SAS=0.2176;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,42:75:99:1179,0,931 1 112329838 rs11587284 G T 428.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.808;DP=31;ExcessHet=3.0103;FS=7.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.153;SOR=2.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000315987.6,ENST00000369697.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e937\x3bName\x3e"229701:L2a(LINE)";avsnp150=rs11587284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.163;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.1124;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:457,0,429 1 112437663 rs10857913 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000369697.5,ENST00000315987.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e95\x3bName\x3e"229940:GA-rich(Low_complexity)";avsnp150=rs10857913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.6369;1000g2015aug_all=0.547524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 112437853 rs2813864 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000315987.6,ENST00000369697.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e95\x3bName\x3e"229940:GA-rich(Low_complexity)";avsnp150=rs2813864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.8343;1000g2015aug_all=0.85004;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 112464819 rs2995809 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000315987.6,ENST00000369697.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2995809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.098;1000g2015aug_all=0.172524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112499983 rs6658045 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCND3;Func=intronic;Gene=NM_004980,NM_172198;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302127.4,ENST00000315987.6,ENST00000369697.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=1;1000g2015aug_all=0.999401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112586837 rs6689972 C A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145438,NM_018704;GeneDetail=dist\x3e45374\x3bdist\x3e351963;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.4337;1000g2015aug_all=0.45627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 112587364 rs198797 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145438,NM_018704;GeneDetail=dist\x3e45901\x3bdist\x3e351436;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs198797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.325;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.4712;1000g2015aug_all=0.55651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112867326 rs4839239 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145438,NM_018704;GeneDetail=dist\x3e325863\x3bdist\x3e71474;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427290.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.5591;1000g2015aug_all=0.55611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 112991698 rs2256883 T C 430.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.045;DP=41;ExcessHet=3.0103;FS=4.498;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=2.076;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTTNBP2NL;Func=exonic;Gene=NM_018704;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N;Gencode=Name\x3eENST00000271277.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2256883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.66;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.5692;1000g2015aug_all=0.525359;esp6500siv2_all=0.5591;ExAC_ALL=0.5987;ExAC_AFR=0.3803;ExAC_AMR=0.5277;ExAC_EAS=0.4277;ExAC_FIN=0.5768;ExAC_NFE=0.6413;ExAC_OTH=0.5982;ExAC_SAS=0.7117;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:459,0,618 1 112991862 rs3818729 G T 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.787;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.644;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTTNBP2NL;Func=intronic;Gene=NM_018704;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271277.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.229;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.3184;1000g2015aug_all=0.264976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:391,0,372 1 112999227 rs1175641 G A 3004.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=0.901;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTTNBP2NL;Func=exonic;Gene=NM_018704;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q;Gencode=Name\x3eENST00000271277.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1175641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9366;1000g2015aug_all=0.939696;esp6500siv2_all=0.8831;ExAC_ALL=0.8917;ExAC_AFR=0.9382;ExAC_AMR=0.9567;ExAC_EAS=0.9984;ExAC_FIN=0.8592;ExAC_NFE=0.8520;ExAC_OTH=0.8910;ExAC_SAS=0.9344;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:3033,278,0 1 113044888 rs351363 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT2B;Func=intronic;Gene=NM_001291880,NM_004185;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369686.9,ENST00000256640.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs351363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.4207;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 113057446 rs147162637 A G 1255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.952;DP=71;ExcessHet=3.0103;FS=4.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=2.679;SOR=0.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT2B;Func=intronic;Gene=NM_001291880,NM_004185,NM_024494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369684.4,ENST00000256640.9,ENST00000369686.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147162637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00579073;esp6500siv2_all=0.0141;ExAC_ALL=0.0137;ExAC_AFR=0.0061;ExAC_AMR=0.0094;ExAC_EAS=0;ExAC_FIN=0.0085;ExAC_NFE=0.0168;ExAC_OTH=0.0155;ExAC_SAS=0.0180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,44:71:99:1284,0,808 1 113057856 rs150759507 G A 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.575;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.16;ReadPosRankSum=0.889;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT2B;Func=intronic;Gene=NM_001291880,NM_004185,NM_024494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256640.9,ENST00000369686.9,ENST00000369684.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs150759507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,16:24:99:584,0,250 1 113068880 rs112806345 C T 515.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.214;DP=45;ExcessHet=3.0103;FS=7.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.706;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369686.9,ENST00000369669.5,ENST00000360743.8,ENST00000358039.8,ENST00000490067.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112806345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0269569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,23:44:99:544,0,609 1 113083439 rs10745330 C T 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.751;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-1.242;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369669.5,ENST00000358039.8,ENST00000360743.8,ENST00000490067.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10745330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.5333;1000g2015aug_amr=0.4438;1000g2015aug_all=0.489816;esp6500siv2_all=.;ExAC_ALL=0.4333;ExAC_AFR=0.5509;ExAC_AMR=0.3830;ExAC_EAS=0.6111;ExAC_FIN=0.5597;ExAC_NFE=0.4967;ExAC_OTH=0.4891;ExAC_SAS=0.3607;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:64:189,0,64 1 113113992 rs183627695 T C 571.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.76;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.351;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728,NM_138729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369669.5,ENST00000369666.5,ENST00000343210.11,ENST00000360743.8,ENST00000358039.8,ENST00000490067.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183627695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00479233;esp6500siv2_all=.;ExAC_ALL=0.0130;ExAC_AFR=0.0018;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0094;ExAC_NFE=0.0143;ExAC_OTH=0;ExAC_SAS=0.0150;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,25:41:99:600,0,375 1 113121198 rs45626331 C A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728,NM_138729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369669.5,ENST00000369666.5,ENST00000360743.8,ENST00000358039.8,ENST00000490067.5,ENST00000343210.11;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2289\x3bName\x3e"231237:AluSp(SINE)";avsnp150=rs45626331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:69,0,33 1 113134338 rs41306191 A T 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728,NM_138729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343210.11,ENST00000490067.5,ENST00000360743.8,ENST00000358039.8,ENST00000369666.5,ENST00000369669.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41306191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:92:92,0,112 1 113143330 rs752487522 C T 101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.144;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eST7L;Func=intronic;Gene=NM_001308264,NM_017744,NM_138727,NM_138728,NM_138729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369669.5,ENST00000369666.5,ENST00000343210.11,ENST00000360743.8,ENST00000358039.8,ENST00000490067.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs752487522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:130,0,143 1 113202417 rs2932536 G A 404.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.939;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.804;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPZA1;Func=intronic;Gene=NM_006135;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263168.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2932536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.572;1000g2015aug_all=0.521965;esp6500siv2_all=0.5253;ExAC_ALL=0.5246;ExAC_AFR=0.5342;ExAC_AMR=0.5288;ExAC_EAS=0.3603;ExAC_FIN=0.4097;ExAC_NFE=0.5222;ExAC_OTH=0.5195;ExAC_SAS=0.6510;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,18:38:99:433,0,449 1 113234456 rs2932532 G A 708.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.996;DP=53;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.437;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMOV10;Func=intronic;Gene=NM_001130079,NM_001286072,NM_001321324,NM_020963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413052.6,ENST00000369644.5,ENST00000369645.5,ENST00000357443.2;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2932532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.5119;1000g2015aug_afr=0.503;1000g2015aug_amr=0.572;1000g2015aug_all=0.519569;esp6500siv2_all=0.5230;ExAC_ALL=0.5107;ExAC_AFR=0.5105;ExAC_AMR=0.5084;ExAC_EAS=0.3384;ExAC_FIN=0.3973;ExAC_NFE=0.5096;ExAC_OTH=0.5134;ExAC_SAS=0.6585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,25:53:99:737,0,713 1 113237669 rs142425836 T C 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.391;DP=15;ExcessHet=3.0103;FS=6.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.155;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMOV10;Func=intronic;Gene=NM_001130079,NM_001286072,NM_001321324,NM_020963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357443.2,ENST00000369645.5,ENST00000421943.1,ENST00000369644.5,ENST00000413052.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e841\x3bName\x3e"231523:AluJr(SINE)";avsnp150=rs142425836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00459265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:206,0,229 1 113237872 rs151296042 A C 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=0.475;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMOV10;Func=intronic;Gene=NM_001130079,NM_001286072,NM_001321324,NM_020963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357443.2,ENST00000369645.5,ENST00000421943.1,ENST00000369644.5,ENST00000413052.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs151296042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00459265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:178,0,140 1 113239478 rs2999158 T C 1826.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.342;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMOV10;Func=intronic;Gene=NM_001130079,NM_001286072,NM_001321324,NM_020963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413052.6,ENST00000369644.5,ENST00000369645.5,ENST00000357443.2;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2999158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8442;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.666;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.8458;1000g2015aug_all=0.80631;esp6500siv2_all=0.7291;ExAC_ALL=0.7382;ExAC_AFR=0.8470;ExAC_AMR=0.8763;ExAC_EAS=0.8310;ExAC_FIN=0.6680;ExAC_NFE=0.6736;ExAC_OTH=0.7284;ExAC_SAS=0.7684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1855,171,0 1 113242488 rs3013431 C T 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.191;DP=64;ExcessHet=3.0103;FS=7.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.559;SOR=0.185;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMOV10;Func=intronic;Gene=NM_001130079,NM_001286072,NM_001321324,NM_020963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369645.5,ENST00000357443.2,ENST00000413052.6,ENST00000369644.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3013431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.6196;1000g2015aug_all=0.545727;esp6500siv2_all=0.5824;ExAC_ALL=0.5664;ExAC_AFR=0.5244;ExAC_AMR=0.5394;ExAC_EAS=0.3362;ExAC_FIN=0.4569;ExAC_NFE=0.5935;ExAC_OTH=0.5727;ExAC_SAS=0.6664;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,42:64:99:1160,0,579 1 113244433 rs2279500 T C 1846.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHOC;Func=intronic;Gene=NM_001042678,NM_001042679,NM_175744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369633.6,ENST00000369637.5,ENST00000369642.7,ENST00000339083.11,ENST00000285735.6,ENST00000369638.6,ENST00000369632.6,ENST00000369636.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.841;1000g2015aug_afr=0.885;1000g2015aug_amr=0.928;1000g2015aug_all=0.89377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1875,174,0 1 113246229 rs937053 T A 520.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.654;DP=36;ExcessHet=3.0103;FS=2.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.784;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHOC;Func=intronic;Gene=NM_001042678,NM_001042679,NM_175744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000285735.6,ENST00000369632.6,ENST00000369636.6,ENST00000369638.6,ENST00000369637.5,ENST00000369633.6,ENST00000339083.11,ENST00000369642.7,ENST00000606505.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs937053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.4193;1000g2015aug_all=0.473043;esp6500siv2_all=0.5251;ExAC_ALL=0.4978;ExAC_AFR=0.4647;ExAC_AMR=0.2898;ExAC_EAS=0.2744;ExAC_FIN=0.4115;ExAC_NFE=0.5404;ExAC_OTH=0.5222;ExAC_SAS=0.6461;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:549,0,425 1 113248365 rs954679 A G 1088.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.03;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHOC;Func=intronic;Gene=NM_001042678,NM_001042679,NM_175744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000285735.6,ENST00000369638.6,ENST00000369632.6,ENST00000369636.6,ENST00000369633.6,ENST00000369637.5,ENST00000606505.5,ENST00000369642.7,ENST00000339083.11;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs954679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.5113;1000g2015aug_amr=0.5994;1000g2015aug_all=0.555911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1117,90,0 1 113252614 rs41310100 C A 2044.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=3.422;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_005167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606505.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41310100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.503;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.5216;1000g2015aug_all=0.526957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2073,168,0 1 113254267 rs7522283 G C 537.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPM1J;Func=intronic;Gene=NM_005167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464951.1,ENST00000309276.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e498\x3bName\x3e"231552:MIR(SINE)";avsnp150=rs7522283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.6902;1000g2015aug_all=0.715455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:566,48,0 1 113254484 rs4839258 A G 1050.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.08;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPM1J;Func=intronic;Gene=NM_005167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464951.1,ENST00000309276.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4839258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.9971;1000g2015aug_all=0.986422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1079,81,0 1 113255389 rs10857971 C T 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPM1J;Func=exonic;Gene=NM_005167;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PPM1J:NM_005167:exon3:c.G706A:p.V236I;Gencode=Name\x3eENST00000309276.10,ENST00000464951.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10857971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.9899;1000g2015aug_all=0.967851;esp6500siv2_all=0.9609;ExAC_ALL=0.9897;ExAC_AFR=0.8894;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9934;ExAC_SAS=0.9996;SIFT_score=0.554;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.68;MutationAssessor_pred=N;FATHMM_score=2.44;FATHMM_pred=T;phyloP100way_vertebrate=2.090;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=10.051;gerp++gt2=4.72;CADD=1.718;CADD_Phred=14.51;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 113256382 rs45492096 A C 809.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.39;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPM1J;Func=intronic;Gene=NM_005167;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309276.10,ENST00000464951.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45492096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.5086;1000g2015aug_all=0.470248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:838,63,0 1 113272894 . T A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=32.85;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004440,NR_103746;GeneDetail=dist\x3e3038\x3bdist\x3e89897;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 113331258 rs4385708 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004440,NR_103746;GeneDetail=dist\x3e61402\x3bdist\x3e31533;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4385708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.789;1000g2015aug_amr=0.7219;1000g2015aug_all=0.716653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 113428827 rs6670866 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_103746,NM_003051;GeneDetail=dist\x3e35562\x3bdist\x3e25643;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2126\x3bName\x3e"232017:AluSz(SINE)";avsnp150=rs6670866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7361;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.857;1000g2015aug_amr=0.5461;1000g2015aug_all=0.672125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 113429172 rs61819997 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_103746,NM_003051;GeneDetail=dist\x3e35907\x3bdist\x3e25298;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e340\x3bName\x3e"232019:AluY(SINE)";avsnp150=rs61819997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.456;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.4308;1000g2015aug_all=0.547125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 113456546 rs1049434 A T 400.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC16A1;Func=exonic;Gene=NM_001166496,NM_003051;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC16A1:NM_001166496:exon5:c.T1470A:p.D490E,SLC16A1:NM_003051:exon5:c.T1470A:p.D490E;Gencode=Name\x3eENST00000538576.5,ENST00000369626.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1049434;cosmic70=.;CLNALLELEID=135762;CLNDN=not_specified|Hyperinsulinism,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239341;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.5818;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.9085;1000g2015aug_amr=0.5519;1000g2015aug_all=0.676717;esp6500siv2_all=0.6662;ExAC_ALL=0.5972;ExAC_AFR=0.8604;ExAC_AMR=0.5186;ExAC_EAS=0.6633;ExAC_FIN=0.5738;ExAC_NFE=0.5767;ExAC_OTH=0.5947;ExAC_SAS=0.5441;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.938;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.345;MutationAssessor_pred=N;FATHMM_score=2.08;FATHMM_pred=T;phyloP100way_vertebrate=-0.105;phyloP20way_mammalian=0.044;SiPhy_29way_logOdds=2.536;gerp++gt2=2.74;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:429,39,0 1 113460687 rs201021807 T G 524.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC16A1;Func=intronic;Gene=NM_001166496,NM_003051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538576.5,ENST00000369626.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e54\x3bName\x3e"232099:(AATA)n(Simple_repeat)";avsnp150=rs201021807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0002;ExAC_ALL=0.5337;ExAC_AFR=0.3363;ExAC_AMR=0.6673;ExAC_EAS=0.7532;ExAC_FIN=0.5452;ExAC_NFE=0.5647;ExAC_OTH=0.5208;ExAC_SAS=0.4483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:553,39,0 1 113596484 rs1419136 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996251;Func=ncRNA_intronic;Gene=NR_103777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421157.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1419136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.6649;1000g2015aug_amr=0.4092;1000g2015aug_all=0.528355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 113596491 rs1778021 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996251;Func=ncRNA_intronic;Gene=NR_103777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421157.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1778021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9899;1000g2015aug_all=0.963658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 113597946 rs1216764 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996251;Func=ncRNA_intronic;Gene=NR_103777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421157.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2242\x3bName\x3e"232494:AluSg(SINE)";avsnp150=rs1216764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.9899;1000g2015aug_all=0.964058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 113597973 rs1216763 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100996251;Func=ncRNA_intronic;Gene=NR_103777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421157.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2242\x3bName\x3e"232494:AluSg(SINE)";avsnp150=rs1216763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.4063;1000g2015aug_all=0.473642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 113636924 rs1216802 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1216802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9891;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.9524;1000g2015aug_all=0.847444;esp6500siv2_all=0.8632;ExAC_ALL=0.9558;ExAC_AFR=0.6217;ExAC_AMR=0.9754;ExAC_EAS=0.9730;ExAC_FIN=0.9898;ExAC_NFE=0.9866;ExAC_OTH=0.9843;ExAC_SAS=0.9866;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 113641103 rs1216809 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1216809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.882;1000g2015aug_amr=0.9899;1000g2015aug_all=0.967452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 113657092 rs1216793 A C 4127.77 PASS AC=2;AF=1;AN=2;DP=127;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=exonic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1216793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9891;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.9669;1000g2015aug_all=0.901757;esp6500siv2_all=0.9031;ExAC_ALL=0.9633;ExAC_AFR=0.7366;ExAC_AMR=0.9815;ExAC_EAS=0.9677;ExAC_FIN=0.9890;ExAC_NFE=0.9862;ExAC_OTH=0.9857;ExAC_SAS=0.9868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,126:126:99:4156,377,0 1 113658887 rs1216791 G A 2988.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=1.13;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1216791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.7939;1000g2015aug_all=0.789936;esp6500siv2_all=0.7646;ExAC_ALL=0.8386;ExAC_AFR=0.5908;ExAC_AMR=0.7758;ExAC_EAS=0.9484;ExAC_FIN=0.8789;ExAC_NFE=0.8555;ExAC_OTH=0.8673;ExAC_SAS=0.8965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:3017,273,0 1 113662249 rs12568813 G C 689.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3611;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.2867;1000g2015aug_all=0.284744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:718,54,0 1 113664440 rs1216796 C T 392.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1216796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.7939;1000g2015aug_all=0.790136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:421,36,0 1 113664768 rs1216797 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2448\x3bName\x3e"232655:AluSx1(SINE)";avsnp150=rs1216797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.5408;1000g2015aug_amr=0.7939;1000g2015aug_all=0.790136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 113666351 rs1728222 G T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.92;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e40\x3bName\x3e"232658:(TG)n(Simple_repeat)";avsnp150=rs1728222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.5643;1000g2015aug_amr=0.7666;1000g2015aug_all=0.770367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 113666353 rs1728223 G T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRIG2;Func=intronic;Gene=NM_001312686,NM_014813;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361127.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e40\x3bName\x3e"232658:(TG)n(Simple_repeat)";avsnp150=rs1728223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.5346;1000g2015aug_all=0.54393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 113735335 rs1216885 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014813,NR_038846;GeneDetail=dist\x3e67511\x3bdist\x3e4068;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2350\x3bName\x3e"232801:AluY(SINE)";avsnp150=rs1216885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.7867;1000g2015aug_all=0.718251;esp6500siv2_all=0.7622;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 113739686 rs1133524 T A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC643441;Func=ncRNA_exonic;Gene=NR_038846;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1418\x3bName\x3e"232813:MLT1J(LTR)";avsnp150=rs1133524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.4962;1000g2015aug_amr=0.7853;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 114157023 rs3761931 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307546.13,ENST00000369617.8,ENST00000369615.5,ENST00000369611.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.326;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2046;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 114165757 rs2636006 A C 418.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307546.13,ENST00000369617.8,ENST00000369615.5,ENST00000369611.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2636006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.9986;1000g2015aug_all=0.986022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:447,33,0 1 114181360 rs4328072 A G 53.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369611.4,ENST00000369615.5,ENST00000369617.8,ENST00000307546.13;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e27083\x3bName\x3e"233594:L1PA3(LINE)";avsnp150=rs4328072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.773;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.5749;1000g2015aug_all=0.678315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:81,6,0 1 114196364 rs2359174 T G 977.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.329;DP=62;ExcessHet=3.0103;FS=0.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=0.457;SOR=0.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369617.8,ENST00000307546.13,ENST00000369611.4,ENST00000369615.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.2032;1000g2015aug_all=0.195487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,36:62:99:1006,0,751 1 114196495 rs2359173 A G 1244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.183;DP=96;ExcessHet=3.0103;FS=1.634;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.594;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=exonic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAGI3:NM_001142782:exon15:c.A2484G:p.T828T,MAGI3:NM_152900:exon15:c.A2484G:p.T828T;Gencode=Name\x3eENST00000369611.4,ENST00000369615.5,ENST00000307546.13,ENST00000369617.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2359173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.2032;1000g2015aug_all=0.194289;esp6500siv2_all=0.2238;ExAC_ALL=0.2628;ExAC_AFR=0.0517;ExAC_AMR=0.2340;ExAC_EAS=0.1040;ExAC_FIN=0.2394;ExAC_NFE=0.2947;ExAC_OTH=0.3051;ExAC_SAS=0.3776;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,50:96:99:1273,0,1128 1 114196883 rs1146182 C A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369615.5,ENST00000369611.4,ENST00000307546.13,ENST00000369617.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.771;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.5778;1000g2015aug_all=0.696685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 114214760 rs3748003 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369611.4,ENST00000369615.5,ENST00000369617.8,ENST00000307546.13;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.408;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.2032;1000g2015aug_all=0.195887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 114223635 rs12758546 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAGI3;Func=intronic;Gene=NM_001142782,NM_152900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369617.8,ENST00000307546.13,ENST00000369611.4,ENST00000369615.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12758546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0923;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2032;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 114235054 rs12746609 A G 118.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.76;ReadPosRankSum=0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001142782,NM_006608;GeneDetail=dist\x3e6509\x3bdist\x3e4770;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13590\x3bName\x3e"233667:Tigger2(DNA)";avsnp150=rs12746609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.408;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2032;1000g2015aug_all=0.194688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:147,0,27 1 114242122 rs3752954 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.405;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=intronic;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_006608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369600.5,ENST00000369604.5,ENST00000393357.6,ENST00000369598.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3752954;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2061;1000g2015aug_all=0.226637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,152 1 114247446 rs56275921 G A 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.718;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.075;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=intronic;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_001323047,NM_001323048,NM_001323049,NM_001323050,NM_006608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393357.6,ENST00000369598.5,ENST00000369600.5,ENST00000369604.5,ENST00000357783.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56275921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0722843;esp6500siv2_all=0.0838;ExAC_ALL=0.1024;ExAC_AFR=0.0211;ExAC_AMR=0.0602;ExAC_EAS=0.0072;ExAC_FIN=0.1095;ExAC_NFE=0.1197;ExAC_OTH=0.1198;ExAC_SAS=0.1616;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,9:13:94:291,0,94 1 114249382 rs6698586 C T 85.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.675;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.851;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=intronic;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_001323047,NM_001323048,NM_001323049,NM_001323050,NM_001323051,NM_001323052,NM_001323053,NM_006608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357783.6,ENST00000369604.5,ENST00000369600.5,ENST00000393357.6,ENST00000369598.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.773;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.5735;1000g2015aug_all=0.679313;esp6500siv2_all=0.7789;ExAC_ALL=0.7056;ExAC_AFR=0.8301;ExAC_AMR=0.4986;ExAC_EAS=0.3925;ExAC_FIN=0.6789;ExAC_NFE=0.7520;ExAC_OTH=0.7512;ExAC_SAS=0.7793;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,4:15:99:114,0,329 1 114267347 rs1230640 C T 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.586;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.723;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=intronic;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_001323047,NM_001323048,NM_001323049,NM_001323050,NM_001323051,NM_001323052,NM_001323053,NM_006608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357783.6,ENST00000369598.5,ENST00000393357.6,ENST00000369600.5,ENST00000369604.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1230640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.773;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.5778;1000g2015aug_all=0.703474;esp6500siv2_all=0.8053;ExAC_ALL=0.7164;ExAC_AFR=0.9098;ExAC_AMR=0.5029;ExAC_EAS=0.3958;ExAC_FIN=0.6796;ExAC_NFE=0.7534;ExAC_OTH=0.7539;ExAC_SAS=0.7789;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:225,0,100 1 114280717 rs2273758 A C 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.768;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.4;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=intronic;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_001323047,NM_001323048,NM_001323049,NM_001323050,NM_001323051,NM_001323052,NM_001323053,NM_006608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369604.5,ENST00000369600.5,ENST00000393357.6,ENST00000369598.5,ENST00000357783.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.683;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.4755;1000g2015aug_all=0.557109;esp6500siv2_all=0.6622;ExAC_ALL=0.5787;ExAC_AFR=0.7421;ExAC_AMR=0.3954;ExAC_EAS=0.1664;ExAC_FIN=0.5442;ExAC_NFE=0.6197;ExAC_OTH=0.6280;ExAC_SAS=0.6640;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:358,0,351 1 114301335 rs61817589 C T 567.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.633;DP=42;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.126;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHTF1;Func=UTR5;Gene=NM_001323041,NM_001323042,NM_001323043,NM_001323044,NM_001323045,NM_001323046,NM_001323047,NM_001323048,NM_001323049,NM_001323050,NM_001323051,NM_001323052,NM_001323053,NM_006608;GeneDetail=NM_001323041:c.-10G>A\x3bNM_001323042:c.-10G>A\x3bNM_001323043:c.-10G>A\x3bNM_001323044:c.-19938G>A\x3bNM_001323045:c.-19938G>A\x3bNM_001323046:c.-46675G>A\x3bNM_001323047:c.-10G>A\x3bNM_001323048:c.-10G>A\x3bNM_001323049:c.-10G>A\x3bNM_001323050:c.-19938G>A\x3bNM_001323051:c.-19938G>A\x3bNM_001323052:c.-10G>A\x3bNM_001323053:c.-10G>A\x3bNM_006608:c.-10G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393357.6,ENST00000369598.5,ENST00000369600.5,ENST00000369604.5,ENST00000357783.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61817589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.3314;1000g2015aug_all=0.249401;esp6500siv2_all=0.1625;ExAC_ALL=0.2491;ExAC_AFR=0.0417;ExAC_AMR=0.3780;ExAC_EAS=0.5928;ExAC_FIN=0.3151;ExAC_NFE=0.2267;ExAC_OTH=0.2117;ExAC_SAS=0.1723;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,23:42:99:596,0,550 1 114309172 rs1935836 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRSBN1;Func=intronic;Gene=NM_018364;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615321.1,ENST00000616024.4,ENST00000612242.4,ENST00000261441.9;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1935836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.727;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.7421;1000g2015aug_all=0.669928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 114357750 rs1217413 G A 120.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.16;ReadPosRankSum=-1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,PTPN22;Func=ncRNA_intronic;Gene=NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359785.9,ENST00000538253.5,ENST00000528414.5,ENST00000460620.5,ENST00000429398.5,ENST00000418238.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4127;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.7624;1000g2015aug_afr=0.9887;1000g2015aug_amr=0.6614;1000g2015aug_all=0.749601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:149,0,27 1 114377093 rs1599971 A G 369.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.947;DP=25;ExcessHet=3.0103;FS=6.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.644;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,PTPN22;Func=ncRNA_intronic;Gene=NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538253.5,ENST00000359785.9,ENST00000525799.1,ENST00000420377.6,ENST00000460620.5,ENST00000528414.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1599971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.5735;1000g2015aug_all=0.701278;esp6500siv2_all=0.8027;ExAC_ALL=0.7161;ExAC_AFR=0.9017;ExAC_AMR=0.5080;ExAC_EAS=0.3930;ExAC_FIN=0.6797;ExAC_NFE=0.7539;ExAC_OTH=0.7522;ExAC_SAS=0.7755;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:398,0,231 1 114377568 rs2476601 A G 1772.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN22,AP4B1-AS1;Func=exonic;Gene=NM_001193431,NM_001308297,NM_012411,NM_015967;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001308297:exon13:c.T1786C:p.W596R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R;Gencode=Name\x3eENST00000460620.5,ENST00000528414.5,ENST00000420377.6,ENST00000525799.1,ENST00000359785.9,ENST00000538253.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2476601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMyasthenia_gravis,Rheumatoid_arthritis,Crohn's_disease,Vitiligo,Type_1_diabetes_autoantibodies,Type_1_diabetes,Type_1_diabetes_and_autoimmune_thyroid_diseases;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.997;1000g2015aug_amr=0.964;1000g2015aug_all=0.972644;esp6500siv2_all=0.9316;ExAC_ALL=0.9332;ExAC_AFR=0.9864;ExAC_AMR=0.9750;ExAC_EAS=1;ExAC_FIN=0.8553;ExAC_NFE=0.9034;ExAC_OTH=0.9449;ExAC_SAS=0.9861;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=4.64;FATHMM_pred=T;phyloP100way_vertebrate=0.807;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=7.516;gerp++gt2=2.7;CADD=1.021;CADD_Phred=10.78;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1801,171,0 1 114397799 rs3789609 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,PTPN22;Func=ncRNA_intronic;Gene=NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538253.5,ENST00000525799.1,ENST00000359785.9,ENST00000420377.6,ENST00000528414.5,ENST00000460620.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e568\x3bName\x3e"234041:L1PA16(LINE)";avsnp150=rs3789609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.41;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1988;1000g2015aug_all=0.195487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,146 1 114401231 rs1217418 A G 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.515;DP=25;ExcessHet=3.0103;FS=3.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-2.095;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,PTPN22;Func=ncRNA_intronic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000460620.5,ENST00000528414.5,ENST00000420377.6,ENST00000359785.9,ENST00000525799.1,ENST00000538253.5,ENST00000419536.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.68;1000g2015aug_amr=0.4179;1000g2015aug_all=0.515375;esp6500siv2_all=0.5918;ExAC_ALL=0.5884;ExAC_AFR=0.6701;ExAC_AMR=0.4441;ExAC_EAS=0.2334;ExAC_FIN=0.5187;ExAC_NFE=0.5941;ExAC_OTH=0.6061;ExAC_SAS=0.6752;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:322,0,324 1 114401904 rs1217419 T G 171.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.015;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=-0.732;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN22,AP4B1-AS1;Func=ncRNA_intronic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525799.1,ENST00000359785.9,ENST00000538253.5,ENST00000460620.5,ENST00000528414.5,ENST00000420377.6,ENST00000419536.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.4179;1000g2015aug_all=0.511981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:86:200,0,86 1 114424601 rs1217381 C T 1236.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,BCL2L15;Func=exonic;Gene=NM_001010922;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BCL2L15:NM_001010922:exon3:c.G268A:p.D90N;Gencode=Name\x3eENST00000419536.1,ENST00000471267.1,ENST00000393316.7,ENST00000393320.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999401;esp6500siv2_all=0.9998;ExAC_ALL=0.9999;ExAC_AFR=0.9999;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.644;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=1.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=3.61;FATHMM_pred=T;phyloP100way_vertebrate=-1.635;phyloP20way_mammalian=-0.310;SiPhy_29way_logOdds=7.784;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1265,108,0 1 114429461 rs2358994 G A 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.135;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,BCL2L15;Func=ncRNA_intronic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393320.3,ENST00000393316.7,ENST00000419536.1,ENST00000471267.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2358994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eType_1_diabetes_and_autoimmune_thyroid_diseases;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.3847;1000g2015aug_all=0.246605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 114429515 rs2358995 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,BCL2L15;Func=ncRNA_intronic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419536.1,ENST00000471267.1,ENST00000393320.3,ENST00000393316.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2358995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.3847;1000g2015aug_all=0.246406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 114439025 rs114201291 A G 1509.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.436;DP=88;ExcessHet=3.0103;FS=0.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=0.617;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,AP4B1;Func=exonic;Gene=NM_001253852,NM_001253853,NM_001308312,NM_006594;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AP4B1:NM_001308312:exon5:c.T861C:p.Y287Y,AP4B1:NM_001253852:exon8:c.T1365C:p.Y455Y,AP4B1:NM_001253853:exon9:c.T1068C:p.Y356Y,AP4B1:NM_006594:exon9:c.T1365C:p.Y455Y;Gencode=Name\x3eENST00000369567.5,ENST00000419536.1,ENST00000369569.5,ENST00000256658.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114201291;cosmic70=.;CLNALLELEID=167565;CLNDN=Spastic_paraplegia_47,_autosomal_recessive|not_specified;CLNDISDB=MedGen:C3279738,OMIM:614066|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0119;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00379393;esp6500siv2_all=0.0166;ExAC_ALL=0.0156;ExAC_AFR=0.0029;ExAC_AMR=0.0065;ExAC_EAS=0;ExAC_FIN=0.0115;ExAC_NFE=0.0237;ExAC_OTH=0.0110;ExAC_SAS=0.0076;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,54:88:99:1538,0,846 1 114440258 rs1217402 C G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.589;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.732;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1-AS1,AP4B1;Func=ncRNA_intronic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369569.5,ENST00000256658.8,ENST00000369567.5,ENST00000419536.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.941;1000g2015aug_amr=0.7522;1000g2015aug_all=0.762181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:331,0,173 1 114443035 rs3789613 C G 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.655;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1,AP4B1-AS1;Func=ncRNA_exonic;Gene=NR_037864,NR_125965;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369569.5,ENST00000256658.8,ENST00000419536.1,ENST00000369567.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789613;cosmic70=.;CLNALLELEID=167573;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.4957;1000g2015aug_all=0.365615;esp6500siv2_all=0.2869;ExAC_ALL=0.3757;ExAC_AFR=0.1300;ExAC_AMR=0.5267;ExAC_EAS=0.7642;ExAC_FIN=0.4381;ExAC_NFE=0.3598;ExAC_OTH=0.3114;ExAC_SAS=0.2570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 114443899 rs17464525 G A 1928.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.742;DP=144;ExcessHet=3.0103;FS=1.313;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.166;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1;Func=exonic;Gene=NM_001253852,NM_001253853,NM_006594;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AP4B1:NM_001253852:exon4:c.C576T:p.G192G,AP4B1:NM_001253853:exon5:c.C279T:p.G93G,AP4B1:NM_006594:exon5:c.C576T:p.G192G;Gencode=Name\x3eENST00000369567.5,ENST00000256658.8,ENST00000369569.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17464525;cosmic70=.;CLNALLELEID=167571;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.1124;1000g2015aug_all=0.122404;esp6500siv2_all=0.1578;ExAC_ALL=0.1643;ExAC_AFR=0.0870;ExAC_AMR=0.0815;ExAC_EAS=0.1791;ExAC_FIN=0.2496;ExAC_NFE=0.1918;ExAC_OTH=0.1619;ExAC_SAS=0.1179;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,75:143:99:1957,0,1657 1 114447034 rs6661817 G C 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.184;DP=55;ExcessHet=3.0103;FS=7.819;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-3.17;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAP4B1;Func=intronic;Gene=NM_001253852,NM_001253853,NM_001308312,NM_006594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369569.5,ENST00000256658.8,ENST00000369567.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e310\x3bName\x3e"234156:L2c(LINE)";avsnp150=rs6661817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.4971;1000g2015aug_all=0.36901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,16:55:99:471,0,1327 1 114472218 rs1217441 A G 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.464;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.942;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=intronic;Gene=NM_152696,NM_198268;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626993.2,ENST00000426820.6,ENST00000369559.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.593;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7478;1000g2015aug_all=0.78734;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:344,0,203 1 114504860 rs41302825 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.987;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.384;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=intronic;Gene=NM_152696,NM_181358,NM_198268,NM_198269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369555.6,ENST00000369558.5,ENST00000626993.2,ENST00000426820.6,ENST00000369559.8,ENST00000369561.8,ENST00000369553.5,ENST00000340480.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41302825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.2017;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:179,0,146 1 114505000 rs17852555 G A 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.937;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.367;SOR=0.71;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=exonic;Gene=NM_152696,NM_181358,NM_198268,NM_198269;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIPK1:NM_181358:exon7:c.G861A:p.P287P,HIPK1:NM_198269:exon8:c.G921A:p.P307P,HIPK1:NM_152696:exon9:c.G2043A:p.P681P,HIPK1:NM_198268:exon9:c.G2043A:p.P681P;Gencode=Name\x3eENST00000426820.6,ENST00000626993.2,ENST00000369558.5,ENST00000369555.6,ENST00000340480.8,ENST00000369559.8,ENST00000369553.5,ENST00000369561.8;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17852555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.351;1000g2015aug_amr=0.196;1000g2015aug_all=0.23742;esp6500siv2_all=0.2706;ExAC_ALL=0.2498;ExAC_AFR=0.3362;ExAC_AMR=0.2173;ExAC_EAS=0.2637;ExAC_FIN=0.3398;ExAC_NFE=0.2561;ExAC_OTH=0.2269;ExAC_SAS=0.1505;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,27:58:99:681,0,746 1 114508472 . C G 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.493;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=1.111;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=intronic;Gene=NM_152696,NM_181358,NM_198268,NM_198269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340480.8,ENST00000369559.8,ENST00000369561.8,ENST00000369553.5,ENST00000626993.2,ENST00000426820.6,ENST00000369555.6,ENST00000369558.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:270,0,53 1 114512939 rs3811018 A T 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.979;DP=21;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=1.717;SOR=0.053;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=intronic;Gene=NM_152696,NM_181358,NM_198268,NM_198269;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340480.8,ENST00000369559.8,ENST00000369553.5,ENST00000369561.8,ENST00000426820.6,ENST00000626993.2,ENST00000369558.5,ENST00000369555.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e413\x3bName\x3e"234276:Tigger19a(DNA)";avsnp150=rs3811018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7478;1000g2015aug_all=0.788738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:195,0,518 1 114516330 rs10108 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIPK1;Func=UTR3;Gene=NM_181358,NM_198268,NM_198269;GeneDetail=NM_181358:c.*196C>T\x3bNM_198268:c.*196C>T\x3bNM_198269:c.*196C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626993.2,ENST00000369558.5,ENST00000369555.6,ENST00000340480.8,ENST00000369553.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2371;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.1758;1000g2015aug_all=0.194289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 114634485 rs1053135 T C 391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.985;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.49;ReadPosRankSum=-1.278;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=UTR3;Gene=NM_001270805,NM_205848;GeneDetail=NM_001270805:c.*271A>G\x3bNM_205848:c.*271A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369547.5,ENST00000609117.5,ENST00000607941.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1053135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3573;1000g2015aug_all=0.374401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,13:16:77:420,0,77 1 114636635 rs1077884 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610222.1,ENST00000369547.5,ENST00000607941.5,ENST00000609117.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.3381;1000g2015aug_amr=0.353;1000g2015aug_all=0.377196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 114640206 rs669011 C T 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.035;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.387;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610222.1,ENST00000369547.5,ENST00000609117.5,ENST00000607941.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs669011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.1542;1000g2015aug_all=0.155152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:361,0,357 1 114640767 rs2774286 C G 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.217;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609117.5,ENST00000607941.5,ENST00000610222.1,ENST00000369547.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2774286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.1556;1000g2015aug_all=0.155551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:202,0,365 1 114641685 rs2774285 A G 391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.723;DP=46;ExcessHet=3.0103;FS=3.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=1.137;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000607941.5,ENST00000609117.5,ENST00000369547.5,ENST00000610222.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2774285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.9652;1000g2015aug_amr=0.7392;1000g2015aug_all=0.857827;esp6500siv2_all=0.8141;ExAC_ALL=0.7975;ExAC_AFR=0.9293;ExAC_AMR=0.7493;ExAC_EAS=0.9239;ExAC_FIN=0.8047;ExAC_NFE=0.7630;ExAC_OTH=0.7870;ExAC_SAS=0.8235;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,15:46:99:420,0,872 1 114653036 rs2629812 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609117.5,ENST00000607941.5,ENST00000610222.1,ENST00000369547.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2629812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.4179;1000g2015aug_all=0.384185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 114663751 rs2629810 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369547.5,ENST00000610222.1,ENST00000607941.5,ENST00000609117.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2629810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.7378;1000g2015aug_all=0.788538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 114679940 rs12132771 C A 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.735;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610222.1,ENST00000369547.5,ENST00000607941.5,ENST00000609117.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.0836;1000g2015aug_all=0.107428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:319,0,360 1 114680913 rs1994291 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610222.1,ENST00000369547.5,ENST00000607941.5,ENST00000609117.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e398\x3bName\x3e"234575:MIR(SINE)";avsnp150=rs1994291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.09;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.0836;1000g2015aug_all=0.101637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 114681932 rs2629808 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT6;Func=intronic;Gene=NM_001270805,NM_205848;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000607941.5,ENST00000609117.5,ENST00000369547.5,ENST00000610222.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e204\x3bName\x3e"234579:L2a(LINE)";avsnp150=rs2629808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9409;1000g2015aug_all=0.912141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 114942296 rs73003383 T C 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-2.042;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369543.6,ENST00000358465.6,ENST00000450349.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73003383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 114943783 rs112325511 G C 91.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369543.6,ENST00000358465.6,ENST00000450349.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2691\x3bName\x3e"235072:AluYc(SINE)";avsnp150=rs112325511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 1 114945634 rs73005347 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450349.3,ENST00000358465.6,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73005347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 114948281 rs6537825 A G 3611.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=exonic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T;Gencode=Name\x3eENST00000369543.6,ENST00000450349.3,ENST00000358465.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6537825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAutism;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.8012;1000g2015aug_all=0.85643;esp6500siv2_all=0.9423;ExAC_ALL=0.8921;ExAC_AFR=0.9709;ExAC_AMR=0.7596;ExAC_EAS=0.6074;ExAC_FIN=0.9661;ExAC_NFE=0.9250;ExAC_OTH=0.8866;ExAC_SAS=0.9223;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.955;MutationAssessor_pred=N;FATHMM_score=-0.55;FATHMM_pred=T;phyloP100way_vertebrate=3.042;phyloP20way_mammalian=0.104;SiPhy_29way_logOdds=10.725;gerp++gt2=4.35;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3640,330,0 1 114951220 rs6672519 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.69;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369543.6,ENST00000450349.3,ENST00000358465.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2196\x3bName\x3e"235085:L1MC5(LINE)";avsnp150=rs6672519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.232;1000g2015aug_all=0.26238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 114951390 rs71662879 T A 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.399;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-1.188;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450349.3,ENST00000358465.6,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71662879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.1225;1000g2015aug_all=0.110823;esp6500siv2_all=0.1580;ExAC_ALL=0.1790;ExAC_AFR=0.1083;ExAC_AMR=0.1002;ExAC_EAS=0.0276;ExAC_FIN=0.1866;ExAC_NFE=0.2318;ExAC_OTH=0.1994;ExAC_SAS=0.1671;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:249,0,253 1 114969600 rs6656393 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450349.3,ENST00000358465.6,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.326;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.2392;1000g2015aug_all=0.297923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 114969641 rs34643195 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.816;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369543.6,ENST00000450349.3,ENST00000358465.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34643195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1066;1000g2015aug_all=0.0886581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 114969665 rs58747000 T C 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-1.876;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450349.3,ENST00000358465.6,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58747000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:255,0,173 1 114973429 rs12083584 T C 275.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=exonic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TRIM33:NM_015906:exon6:c.A1146G:p.Q382Q,TRIM33:NM_033020:exon6:c.A1146G:p.Q382Q;Gencode=Name\x3eENST00000450349.3,ENST00000358465.6,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.325;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.2392;1000g2015aug_all=0.295727;esp6500siv2_all=0.3677;ExAC_ALL=0.3076;ExAC_AFR=0.4582;ExAC_AMR=0.1674;ExAC_EAS=0.0373;ExAC_FIN=0.3213;ExAC_NFE=0.3325;ExAC_OTH=0.3293;ExAC_SAS=0.3451;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:304,27,0 1 114973690 rs11585926 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369543.6,ENST00000358465.6,ENST00000450349.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAutism;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.1527;1000g2015aug_all=0.163139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 114978607 rs71664843 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM33;Func=intronic;Gene=NM_015906,NM_033020;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358465.6,ENST00000450349.3,ENST00000369543.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1592\x3bName\x3e"235148:AluJo(SINE)";avsnp150=rs71664843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.062;1000g2015aug_amr=0.121;1000g2015aug_all=0.104233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 115078547 rs2878745 T C 270.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015906,NM_005872;GeneDetail=dist\x3e24766\x3bdist\x3e31634;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2878745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.4592;1000g2015aug_amr=0.5447;1000g2015aug_all=0.509984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:299,21,0 1 115078549 rs12034144 G A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0.566;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015906,NM_005872;GeneDetail=dist\x3e24768\x3bdist\x3e31632;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12034144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.2248;1000g2015aug_all=0.200679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 115079658 rs11587400 C T 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-1.718;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015906,NM_005872;GeneDetail=dist\x3e25877\x3bdist\x3e30523;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11587400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAutism;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.1787;1000g2015aug_all=0.126997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,78 1 115080597 rs1810203 A G 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.697;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015906,NM_005872;GeneDetail=dist\x3e26816\x3bdist\x3e29584;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1810203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.1657;1000g2015aug_all=0.16254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:97:143,0,97 1 115080875 rs2014836 A G 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015906,NM_005872;GeneDetail=dist\x3e27094\x3bdist\x3e29306;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2014836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.5447;1000g2015aug_all=0.527955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:112,0,104 1 115110683 rs8128 A C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAS2;Func=UTR3;Gene=NM_005872;GeneDetail=NM_005872:c.*68T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369541.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.4813;1000g2015aug_all=0.470048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 115111009 rs185677311 C T 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAS2;Func=intronic;Gene=NM_005872;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369541.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2305\x3bName\x3e"235541:AluSq2(SINE)";avsnp150=rs185677311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:89:89,0,181 1 115128087 rs222493 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=UTR3;Gene=NM_001256404,NM_198459;GeneDetail=NM_001256404:c.*134T>C\x3bNM_198459:c.*134T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393274.5,ENST00000393277.2,ENST00000393276.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs222493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.7824;1000g2015aug_all=0.828275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 115144035 rs61811019 G A 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.547;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=intronic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393277.2,ENST00000393276.7,ENST00000393274.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61811019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0375;1000g2015aug_all=0.019369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:173,0,256 1 115144304 rs12730318 C T 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=1.268;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=intronic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393274.5,ENST00000393277.2,ENST00000393276.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12730318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1441;1000g2015aug_all=0.114417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:292,0,208 1 115144703 rs28398 A G 1932.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=intronic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393274.5,ENST00000393277.2,ENST00000393276.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9971;1000g2015aug_all=0.998403;esp6500siv2_all=0.9925;ExAC_ALL=0.9939;ExAC_AFR=0.9984;ExAC_AMR=0.9986;ExAC_EAS=1;ExAC_FIN=0.9986;ExAC_NFE=0.9908;ExAC_OTH=0.9978;ExAC_SAS=0.9951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1961,180,0 1 115161140 rs12145066 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=intronic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393277.2,ENST00000393276.7,ENST00000393274.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1455;1000g2015aug_all=0.114816;esp6500siv2_all=0.2038;ExAC_ALL=0.2033;ExAC_AFR=0.0490;ExAC_AMR=0.1123;ExAC_EAS=0.0001;ExAC_FIN=0.2117;ExAC_NFE=0.2740;ExAC_OTH=0.2070;ExAC_SAS=0.1761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 115165472 rs222502 T A 649.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=intronic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393276.7,ENST00000393277.2,ENST00000393274.5;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs222502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.7824;1000g2015aug_all=0.828474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:678,51,0 1 115168097 rs12136548 T C 958.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.98;DP=53;ExcessHet=3.0103;FS=1.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-0.659;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=exonic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DENND2C:NM_198459:exon2:c.A509G:p.D170G,DENND2C:NM_001256404:exon4:c.A509G:p.D170G;Gencode=Name\x3eENST00000393274.5,ENST00000393277.2,ENST00000393276.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.1787;1000g2015aug_all=0.125599;esp6500siv2_all=0.2218;ExAC_ALL=0.2270;ExAC_AFR=0.0591;ExAC_AMR=0.1964;ExAC_EAS=0.1053;ExAC_FIN=0.2903;ExAC_NFE=0.2912;ExAC_OTH=0.2081;ExAC_SAS=0.1315;SIFT_score=0.412;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.061;LRT_pred=N;MutationTaster_score=0.953;MutationTaster_pred=P;MutationAssessor_score=0.145;MutationAssessor_pred=N;FATHMM_score=3.78;FATHMM_pred=T;phyloP100way_vertebrate=0.288;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=1.447;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,31:53:99:987,0,555 1 115168600 rs7541738 A T 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.89;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.39;SOR=0.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND2C;Func=exonic;Gene=NM_001256404,NM_198459;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DENND2C:NM_198459:exon2:c.T6A:p.D2E,DENND2C:NM_001256404:exon4:c.T6A:p.D2E;Gencode=Name\x3eENST00000393274.5,ENST00000393276.7,ENST00000393277.2;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1441;1000g2015aug_all=0.114217;esp6500siv2_all=0.2033;ExAC_ALL=0.2032;ExAC_AFR=0.0497;ExAC_AMR=0.1121;ExAC_EAS=0.0001;ExAC_FIN=0.2101;ExAC_NFE=0.2737;ExAC_OTH=0.2098;ExAC_SAS=0.1773;SIFT_score=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.084;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.024;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=0.390;MutationTaster_pred=P;MutationAssessor_score=1.555;MutationAssessor_pred=L;FATHMM_score=3.46;FATHMM_pred=T;phyloP100way_vertebrate=0.639;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=1.817;gerp++gt2=4.54;CADD=1.369;CADD_Phred=12.63;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,15:21:99:330,0,120 1 115222434 rs761755 G A 597.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMPD1;Func=intronic;Gene=NM_000036,NM_001172626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369538.3,ENST00000520113.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs761755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.7824;1000g2015aug_all=0.825879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:626,54,0 1 115222478 rs743041 G A 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.243;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMPD1;Func=intronic;Gene=NM_000036,NM_001172626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000520113.6,ENST00000369538.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs743041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.1787;1000g2015aug_all=0.123802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,298 1 115231254 rs61752479 G A 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.663;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-2.192;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMPD1;Func=exonic;Gene=NM_000036,NM_001172626;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AMPD1:NM_001172626:exon2:c.C230T:p.P77L,AMPD1:NM_000036:exon3:c.C242T:p.P81L;Gencode=Name\x3eENST00000520113.6,ENST00000369538.3;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61752479;cosmic70=.;CLNALLELEID=59862;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0389377;esp6500siv2_all=0.0959;ExAC_ALL=0.0884;ExAC_AFR=0.0204;ExAC_AMR=0.0414;ExAC_EAS=0;ExAC_FIN=0.1190;ExAC_NFE=0.1284;ExAC_OTH=0.0936;ExAC_SAS=0.0359;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.36;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;phyloP100way_vertebrate=9.346;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=20.025;gerp++gt2=5.62;CADD=5.999;CADD_Phred=27.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,20:43:99:502,0,559 1 115236057 rs17602729 G A 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.948;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.182;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAMPD1;Func=exonic;Gene=NM_000036;GeneDetail=.;ExonicFunc=stopgain;AAChange=AMPD1:NM_000036:exon2:c.C133T:p.Q45X;Gencode=Name\x3eENST00000369538.3,ENST00000520113.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17602729;cosmic70=.;CLNALLELEID=33310;CLNDN=Muscle_AMP_deaminase_deficiency|not_specified;CLNDISDB=MedGen:C0268123,OMIM:615511,SNOMED_CT:9105005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0576;1000g2015aug_all=0.038139;esp6500siv2_all=0.0946;ExAC_ALL=0.0871;ExAC_AFR=0.0205;ExAC_AMR=0.0405;ExAC_EAS=0;ExAC_FIN=0.1181;ExAC_NFE=0.1264;ExAC_OTH=0.0929;ExAC_SAS=0.0356;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=3.472;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=13.604;gerp++gt2=2.84;CADD=9.646;CADD_Phred=36;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,20:43:99:604,0,763 1 115284056 rs7537232 G T 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.119;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.128;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSDE1;Func=intronic;Gene=NM_001007553,NM_001130523,NM_001242891,NM_001242892,NM_001242893,NM_007158;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369530.5,ENST00000530886.5,ENST00000358528.8,ENST00000438362.6,ENST00000534699.5,ENST00000261443.9,ENST00000610726.4,ENST00000339438.10;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7537232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.4395;1000g2015aug_amr=0.1931;1000g2015aug_all=0.244609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:490,0,383 1 115334159 rs6656144 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001102396,NM_001282542;GeneDetail=dist\x3e10851\x3bdist\x3e63265;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10832\x3bName\x3e"236043:L1PA8(LINE)";avsnp150=rs6656144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.4395;1000g2015aug_all=0.551318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 115399940 rs360614 T G 1493.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYCP1;Func=intronic;Gene=NM_001282541,NM_001282542,NM_003176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369518.1,ENST00000618516.4,ENST00000613524.4,ENST00000369522.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.3516;1000g2015aug_all=0.330871;esp6500siv2_all=0.3433;ExAC_ALL=0.3876;ExAC_AFR=0.1805;ExAC_AMR=0.3477;ExAC_EAS=0.5005;ExAC_FIN=0.3762;ExAC_NFE=0.4314;ExAC_OTH=0.3889;ExAC_SAS=0.3168;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1522,146,0 1 115401136 rs360615 G A 1083.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=2.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYCP1;Func=intronic;Gene=NM_001282541,NM_001282542,NM_003176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618516.4,ENST00000369518.1,ENST00000613524.4,ENST00000369522.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9899;1000g2015aug_all=0.98722;esp6500siv2_all=0.9875;ExAC_ALL=0.9966;ExAC_AFR=0.9603;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1112,96,0 1 115420905 rs360636 T C 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYCP1;Func=intronic;Gene=NM_001282541,NM_001282542,NM_003176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369522.7,ENST00000618516.4,ENST00000369518.1,ENST00000613524.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.3516;1000g2015aug_all=0.333267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 115430390 rs145435468 A C 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.203;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.529;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYCP1;Func=intronic;Gene=NM_001282541,NM_001282542,NM_003176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369522.7,ENST00000613524.4,ENST00000369518.1,ENST00000618516.4;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs145435468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0089;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:215,0,257 1 115524216 rs12026343 C T 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYCP1;Func=intronic;Gene=NM_001282541,NM_001282542,NM_003176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618516.4,ENST00000369518.1,ENST00000613524.4,ENST00000369522.7;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12026343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.4473;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.3862;1000g2015aug_all=0.360623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 115576023 rs10776792 A G 2778.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.295;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSHB;Func=exonic;Gene=NM_000549;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TSHB:NM_000549:exon2:c.A40G:p.T14A;Gencode=Name\x3eENST00000256592.2,ENST00000369517.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10776792;cosmic70=.;CLNALLELEID=249367;CLNDN=Congenital_hypothyroidism|Secondary_hypothyroidism|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003|MedGen:C0271789,OMIM:275100,Orphanet:ORPHA90674,SNOMED_CT:82598004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.9622;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.983626;esp6500siv2_all=0.9752;ExAC_ALL=0.9707;ExAC_AFR=0.9955;ExAC_AMR=0.9929;ExAC_EAS=1;ExAC_FIN=0.9440;ExAC_NFE=0.9645;ExAC_OTH=0.9692;ExAC_SAS=0.9599;SIFT_score=0.761;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.932;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.9;MutationAssessor_pred=N;FATHMM_score=0.36;FATHMM_pred=T;phyloP100way_vertebrate=0.207;phyloP20way_mammalian=-0.770;SiPhy_29way_logOdds=2.173;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2807,270,0 1 115576482 rs28566771 C G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSHB;Func=intronic;Gene=NM_000549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256592.2,ENST00000369517.1;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28566771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.32;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.415;1000g2015aug_all=0.438898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 115601615 rs7523818 A G 1023.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN2;Func=intronic;Gene=NM_001308315,NM_001308316,NM_005725;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369516.6,ENST00000369515.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.964;1000g2015aug_all=0.965655;esp6500siv2_all=0.9341;ExAC_ALL=0.9350;ExAC_AFR=0.9872;ExAC_AMR=0.9696;ExAC_EAS=1;ExAC_FIN=0.8928;ExAC_NFE=0.9131;ExAC_OTH=0.9339;ExAC_SAS=0.9493;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1052,96,0 1 115604681 rs11102881 A G 284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.426;DP=28;ExcessHet=3.0103;FS=1.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.597;SOR=0.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN2;Func=intronic;Gene=NM_001308315,NM_001308316,NM_005725;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369515.6,ENST00000369516.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11102881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.3343;1000g2015aug_all=0.320088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:313,0,369 1 115604798 rs10776795 C T 965.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.062;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.596;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN2;Func=exonic;Gene=NM_001308315,NM_001308316,NM_005725;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TSPAN2:NM_001308315:exon3:c.G228A:p.G76G,TSPAN2:NM_001308316:exon3:c.G228A:p.G76G,TSPAN2:NM_005725:exon3:c.G228A:p.G76G;Gencode=Name\x3eENST00000369515.6,ENST00000369516.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10776795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.3343;1000g2015aug_all=0.320088;esp6500siv2_all=0.2926;ExAC_ALL=0.3422;ExAC_AFR=0.3347;ExAC_AMR=0.3918;ExAC_EAS=0.4809;ExAC_FIN=0.3133;ExAC_NFE=0.3500;ExAC_OTH=0.3481;ExAC_SAS=0.2239;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,37:88:99:994,0,1353 1 115605181 rs7550281 C T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.368;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN2;Func=intronic;Gene=NM_001308315,NM_001308316,NM_005725;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369516.6,ENST00000369515.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.3343;1000g2015aug_all=0.320088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 115631924 rs4240540 C T 1312.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSPAN2;Func=intronic;Gene=NM_001308315,NM_001308316,NM_005725;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369515.6,ENST00000369516.6;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"236546:(GGCCCCC)n(Simple_repeat)";avsnp150=rs4240540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9928;1000g2015aug_all=0.973043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1341,111,0 1 115975037 rs71664894 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002506,NM_001172411;GeneDetail=dist\x3e94180\x3bdist\x3e209537;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71664894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.353;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 116102760 rs61797978 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002506,NM_001172411;GeneDetail=dist\x3e221903\x3bdist\x3e81814;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61797978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.8963;1000g2015aug_all=0.759585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 116157673 rs10924039 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002506,NM_001172411;GeneDetail=dist\x3e276816\x3bdist\x3e26901;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10924039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.6974;1000g2015aug_all=0.513179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 116202003 rs9428200 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000310260.7,ENST00000355485.6,ENST00000369509.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.098;1000g2015aug_all=0.111422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 116202014 rs9428201 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369509.1,ENST00000310260.7,ENST00000355485.6,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.098;1000g2015aug_all=0.117212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 116214279 rs10801913 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355485.6,ENST00000310260.7,ENST00000369509.1,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.772;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.7622;1000g2015aug_all=0.665735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 116224342 rs10923171 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000310260.7,ENST00000355485.6;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2442\x3bName\x3e"237601:AluSq(SINE)";avsnp150=rs10923171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7183;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.674;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.7507;1000g2015aug_all=0.677716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 116224788 rs10923174 T C 92.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310260.7,ENST00000355485.6,ENST00000369509.1,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.7608;1000g2015aug_all=0.699481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:120,9,0 1 116224792 rs10923175 C T 92.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369509.1,ENST00000310260.7,ENST00000355485.6,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.7608;1000g2015aug_all=0.699481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:120,9,0 1 116224925 rs10923176 G A 488.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000310260.7,ENST00000355485.6;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.674;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.7507;1000g2015aug_all=0.677915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 116224940 rs10754330 C A 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000355485.6,ENST00000310260.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.7507;1000g2015aug_all=0.678315;esp6500siv2_all=0.6343;ExAC_ALL=0.6803;ExAC_AFR=0.5618;ExAC_AMR=0.7722;ExAC_EAS=0.7205;ExAC_FIN=0.7009;ExAC_NFE=0.6579;ExAC_OTH=0.6828;ExAC_SAS=0.7509;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 116225180 rs10923177 A C 542.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.39;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000310260.7,ENST00000355485.6;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.675;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.7522;1000g2015aug_all=0.680511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:571,42,0 1 116226459 rs12144356 C T 806.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000310260.7,ENST00000355485.6,ENST00000369509.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.674;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.7594;1000g2015aug_all=0.696286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:835,60,0 1 116226862 rs4631691 T C 502.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369509.1,ENST00000355485.6,ENST00000310260.7,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2043\x3bName\x3e"237604:AluSx1(SINE)";avsnp150=rs4631691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.674;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.7695;1000g2015aug_all=0.727436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:531,39,0 1 116226917 rs4620545 G A 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369509.1,ENST00000310260.7,ENST00000355485.6,ENST00000369510.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2043\x3bName\x3e"237604:AluSx1(SINE)";avsnp150=rs4620545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.674;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.7608;1000g2015aug_all=0.699681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 116226961 rs4357522 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000355485.6,ENST00000310260.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2043\x3bName\x3e"237604:AluSx1(SINE)";avsnp150=rs4357522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.674;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.7608;1000g2015aug_all=0.699681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 116228220 rs12145661 C T 750.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=intronic;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000369509.1,ENST00000355485.6,ENST00000310260.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12145661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7163;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.6844;1000g2015aug_all=0.594649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:779,78,0 1 116234083 rs3811013 T A 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=1.184;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL1;Func=UTR3;Gene=NM_001172411,NM_001172412,NM_138959;GeneDetail=NM_001172411:c.*83T>A\x3bNM_001172412:c.*83T>A\x3bNM_138959:c.*83T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369510.8,ENST00000310260.7,ENST00000355485.6,ENST00000369509.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811013;cosmic70=.;CLNALLELEID=276461;CLNDN=Neural_tube_defect|Caudal_dysgenesis_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1838569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.2637;1000g2015aug_all=0.191494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,290 1 116243877 rs7413162 G A 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.799;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=-0.901;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=exonic;Gene=NM_001232;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e44\x3bName\x3e"237632:(TCA)n(Simple_repeat)";avsnp150=rs7413162;cosmic70=.;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.464;1000g2015aug_all=0.425719;esp6500siv2_all=0.3880;ExAC_ALL=0.3838;ExAC_AFR=0.4558;ExAC_AMR=0.4505;ExAC_EAS=0.3005;ExAC_FIN=0.4079;ExAC_NFE=0.3619;ExAC_OTH=0.3943;ExAC_SAS=0.4128;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:264,0,131 1 116244166 rs80057683 C T 121.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=-0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80057683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2666;1000g2015aug_all=0.205671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:150,0,27 1 116245381 rs3934652 G T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.157;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3934652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.1431;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.2104;1000g2015aug_all=0.134984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 116245655 rs12402684 G C 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.19;DP=74;ExcessHet=3.0103;FS=0.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.221;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12402684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.2695;1000g2015aug_all=0.216054;esp6500siv2_all=0.1829;ExAC_ALL=0.2328;ExAC_AFR=0.1534;ExAC_AMR=0.2942;ExAC_EAS=0.1705;ExAC_FIN=0.2458;ExAC_NFE=0.2308;ExAC_OTH=0.2211;ExAC_SAS=0.2812;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,26:74:99:611,0,1306 1 116245809 rs6667224 C T 744.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7163;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.6762;1000g2015aug_amr=0.6081;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:773,63,0 1 116245899 rs6675002 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.3386;1000g2015aug_all=0.410942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 116247557 rs3811004 C G 129.77 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.1;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.615;1000g2015aug_amr=0.3501;1000g2015aug_all=0.435903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:7:87,7,0 1 116247790 rs3811003 G A 1302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.973;DP=85;ExcessHet=3.0103;FS=3.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.236;SOR=0.357;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811003;cosmic70=.;CLNALLELEID=249368;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.6142;1000g2015aug_amr=0.3487;1000g2015aug_all=0.428714;esp6500siv2_all=0.4012;ExAC_ALL=0.3486;ExAC_AFR=0.5646;ExAC_AMR=0.3729;ExAC_EAS=0.5152;ExAC_FIN=0.2995;ExAC_NFE=0.3086;ExAC_OTH=0.3341;ExAC_SAS=0.2909;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,49:85:99:1331,0,1044 1 116260532 rs2997741 A T 2907.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2997741;cosmic70=.;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.6383;1000g2015aug_all=0.642772;esp6500siv2_all=0.5993;ExAC_ALL=0.5802;ExAC_AFR=0.6901;ExAC_AMR=0.6426;ExAC_EAS=0.6451;ExAC_FIN=0.5576;ExAC_NFE=0.5441;ExAC_OTH=0.5716;ExAC_SAS=0.5885;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2936,231,0 1 116260544 rs3811001 C T 893.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.264;DP=79;ExcessHet=3.0103;FS=1.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.77;SOR=0.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.2824;1000g2015aug_all=0.250799;esp6500siv2_all=0.2264;ExAC_ALL=0.2359;ExAC_AFR=0.2206;ExAC_AMR=0.2716;ExAC_EAS=0.1573;ExAC_FIN=0.2352;ExAC_NFE=0.2315;ExAC_OTH=0.2362;ExAC_SAS=0.2797;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,39:79:99:922,0,1059 1 116260604 rs2997742 G A 1520.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=4.021;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2997742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.6326;1000g2015aug_all=0.630591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1549,120,0 1 116268283 rs4475752 C T 974.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4475752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.4319;1000g2015aug_amr=0.6182;1000g2015aug_all=0.567292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1003,81,0 1 116283343 rs9428083 A G 1050.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428083;cosmic70=.;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.7608;1000g2015aug_all=0.64357;esp6500siv2_all=0.7084;ExAC_ALL=0.7872;ExAC_AFR=0.3602;ExAC_AMR=0.7652;ExAC_EAS=0.7627;ExAC_FIN=0.8160;ExAC_NFE=0.8689;ExAC_OTH=0.7991;ExAC_SAS=0.7403;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1079,102,0 1 116283526 rs7538337 G A 350.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.7608;1000g2015aug_all=0.64357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:379,33,0 1 116283625 rs7551613 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.7608;1000g2015aug_all=0.643371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 116287305 rs10127797 C T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10127797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.3473;1000g2015aug_all=0.299321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 116287634 rs10801969 A G 1150.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.3473;1000g2015aug_all=0.299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1179,102,0 1 116287651 rs10801970 G A 785.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.3473;1000g2015aug_all=0.299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:814,66,0 1 116310818 rs4484922 G C 806.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=intronic;Gene=NM_001232;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4484922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.3674;1000g2015aug_all=0.401757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:835,60,0 1 116310967 rs4074536 T C 2623.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=0.768;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=exonic;Gene=NM_001232;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CASQ2:NM_001232:exon1:c.A196G:p.T66A;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4074536;cosmic70=.;CLNALLELEID=53328;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.4856;1000g2015aug_amr=0.3674;1000g2015aug_all=0.401158;esp6500siv2_all=0.3394;ExAC_ALL=0.3265;ExAC_AFR=0.4538;ExAC_AMR=0.3635;ExAC_EAS=0.5483;ExAC_FIN=0.2731;ExAC_NFE=0.2837;ExAC_OTH=0.3040;ExAC_SAS=0.2999;SIFT_score=0.943;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=1.18;FATHMM_pred=T;phyloP100way_vertebrate=1.629;phyloP20way_mammalian=-0.462;SiPhy_29way_logOdds=8.620;gerp++gt2=3.44;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2652,243,0 1 116311198 rs4074537 T C 688.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ2;Func=UTR5;Gene=NM_001232;GeneDetail=NM_001232:c.-36A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261448.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4074537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.9914;1000g2015aug_all=0.96246;esp6500siv2_all=0.9571;ExAC_ALL=0.9878;ExAC_AFR=0.8732;ExAC_AMR=0.9932;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9990;ExAC_OTH=0.9948;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:717,54,0 1 116380369 rs10802028 G C 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.586;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=1.489;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNHLH2;Func=UTR3;Gene=NM_001111061,NM_005599;GeneDetail=NM_001111061:c.*217C>G\x3bNM_005599:c.*217C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000320238.3,ENST00000369506.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0932508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:225,0,100 1 116398616 rs2797170 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005599,NR_125969;GeneDetail=dist\x3e14869\x3bdist\x3e63381;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=Score\x3e0.930218\x3bName\x3echr18:32411507;Repeat=Score\x3e2622\x3bName\x3e"237910:AluYm1(SINE)";avsnp150=rs2797170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8214;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.6868;1000g2015aug_amr=0.9107;1000g2015aug_all=0.823882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 116400426 rs7512945 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.108;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005599,NR_125969;GeneDetail=dist\x3e16679\x3bdist\x3e61571;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=Score\x3e0.93383\x3bName\x3echr19:11665802;Repeat=.;avsnp150=rs7512945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.1196;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,152 1 116454570 rs6685351 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005599,NR_125969;GeneDetail=dist\x3e70823\x3bdist\x3e7427;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.635;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.4669;1000g2015aug_all=0.478834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 116454571 rs10923779 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005599,NR_125969;GeneDetail=dist\x3e70824\x3bdist\x3e7426;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.4078;1000g2015aug_all=0.415136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 116519592 rs10923923 G C 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928977,SLC22A15;Func=ncRNA_intronic;Gene=NR_125970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369503.8,ENST00000369502.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923923;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.487;1000g2015aug_all=0.435903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 116534852 rs4046190 C T 2708.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=exonic;Gene=NM_018420;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC22A15:NM_018420:exon2:c.C288T:p.S96S;Gencode=Name\x3eENST00000369502.1,ENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4046190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.4827;1000g2015aug_all=0.435304;esp6500siv2_all=0.4862;ExAC_ALL=0.5994;ExAC_AFR=0.2314;ExAC_AMR=0.5207;ExAC_EAS=0.4712;ExAC_FIN=0.6066;ExAC_NFE=0.6577;ExAC_OTH=0.6051;ExAC_SAS=0.6337;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2737,264,0 1 116558655 rs2995522 G C 32.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=intronic;Gene=NM_018420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369502.1,ENST00000369503.8,ENST00000453128.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2995522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.9085;1000g2015aug_amr=0.8732;1000g2015aug_all=0.920128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:60,6,0 1 116569530 rs2488429 G C 421.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=exonic;Gene=NM_018420;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC22A15:NM_018420:exon5:c.G615C:p.L205L;Gencode=Name\x3eENST00000369502.1,ENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2488429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.8674;1000g2015aug_all=0.903355;esp6500siv2_all=0.9271;ExAC_ALL=0.9283;ExAC_AFR=0.8637;ExAC_AMR=0.8310;ExAC_EAS=0.8953;ExAC_FIN=0.8975;ExAC_NFE=0.9505;ExAC_OTH=0.9222;ExAC_SAS=0.9750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:450,42,0 1 116574306 rs6666101 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=intronic;Gene=NM_018420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369502.1,ENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.732;1000g2015aug_all=0.600639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,147 1 116577981 rs1935828 G A 1198.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=2.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=intronic;Gene=NM_018420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1935828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8585;1000g2015aug_amr=0.9856;1000g2015aug_all=0.960264;esp6500siv2_all=0.9641;ExAC_ALL=0.9882;ExAC_AFR=0.8783;ExAC_AMR=0.9938;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9983;ExAC_OTH=0.9837;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1227,111,0 1 116579779 rs17035177 C T 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.605;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.944;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=intronic;Gene=NM_018420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17035177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.062;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:205,0,176 1 116607254 rs1281748 G T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=intronic;Gene=NM_018420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1281748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9957;1000g2015aug_all=0.982029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 116609185 rs3748742 G A 928.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.919;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.274;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=exonic;Gene=NM_018420;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC22A15:NM_018420:exon11:c.G1410A:p.T470T;Gencode=Name\x3eENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748742;cosmic70=ID\x3eCOSM3688924,COSM3688925\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.093;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.0648;1000g2015aug_all=0.117212;esp6500siv2_all=0.0967;ExAC_ALL=0.1084;ExAC_AFR=0.1771;ExAC_AMR=0.0805;ExAC_EAS=0.1260;ExAC_FIN=0.1140;ExAC_NFE=0.0975;ExAC_OTH=0.1185;ExAC_SAS=0.1173;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,38:85:99:957,0,1314 1 116609833 rs3748741 G A 1145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.234;DP=94;ExcessHet=3.0103;FS=1.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.757;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC22A15;Func=UTR3;Gene=NM_018420;GeneDetail=NM_018420:c.*104G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369503.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1181;1000g2015aug_sas=0.093;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.0648;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,45:94:99:1174,0,1367 1 116666569 rs960675 T A 445.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.621;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAB21L3;Func=intronic;Gene=NM_152367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369500.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e200\x3bName\x3e"238414:MIR3(SINE)";avsnp150=rs960675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.8971;1000g2015aug_amr=0.2954;1000g2015aug_all=0.413538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:474,0,348 1 116669877 rs6668233 T C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=1.242;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAB21L3;Func=intronic;Gene=NM_152367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369500.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2768;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.2882;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 116670774 rs10754431 A G 1089.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.1;DP=91;ExcessHet=3.0103;FS=5.631;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.462;SOR=1.331;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAB21L3;Func=exonic;Gene=NM_152367;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAB21L3:NM_152367:exon6:c.A669G:p.G223G;Gencode=Name\x3eENST00000369500.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.2983;1000g2015aug_all=0.417532;esp6500siv2_all=0.4044;ExAC_ALL=0.2864;ExAC_AFR=0.7962;ExAC_AMR=0.2985;ExAC_EAS=0.2519;ExAC_FIN=0.2870;ExAC_NFE=0.2214;ExAC_OTH=0.2973;ExAC_SAS=0.2325;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,42:91:99:1118,0,1081 1 116671061 rs10802157 A G 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAB21L3;Func=intronic;Gene=NM_152367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369500.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2768;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2237;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.2983;1000g2015aug_all=0.418131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:56:109,0,56 1 116676035 rs10802159 A C 816.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.634;DP=60;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.405;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAB21L3;Func=UTR3;Gene=NM_152367;GeneDetail=NM_152367:c.*49A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369500.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.3055;1000g2015aug_all=0.420927;esp6500siv2_all=0.4062;ExAC_ALL=0.2874;ExAC_AFR=0.7989;ExAC_AMR=0.3074;ExAC_EAS=0.2573;ExAC_FIN=0.2833;ExAC_NFE=0.2279;ExAC_OTH=0.2976;ExAC_SAS=0.2223;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,27:60:99:845,0,950 1 116712803 rs10754434 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152367,NM_000701;GeneDetail=dist\x3e34942\x3bdist\x3e202991;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1455\x3bName\x3e"238485:AluJr4(SINE)";avsnp150=rs10754434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.502;1000g2015aug_afr=0.5832;1000g2015aug_amr=0.3055;1000g2015aug_all=0.49381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 116725599 rs2878380 G C 31.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152367,NM_000701;GeneDetail=dist\x3e47737\x3bdist\x3e190196;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e851\x3bName\x3e"238506:MER45A(DNA)";avsnp150=rs2878380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.547;1000g2015aug_eur=0.506;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.3141;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:59,6,0 1 116790681 rs10802176 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152367,NM_000701;GeneDetail=dist\x3e112819\x3bdist\x3e125114;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.848;1000g2015aug_amr=0.8588;1000g2015aug_all=0.803514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 116916056 rs11540947 C T 328.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.901;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.232;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=UTR5;Gene=NM_000701;GeneDetail=NM_000701:c.-78C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11540947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.1268;1000g2015aug_all=0.217652;esp6500siv2_all=.;ExAC_ALL=0.1535;ExAC_AFR=0.5743;ExAC_AMR=0.2437;ExAC_EAS=0.0896;ExAC_FIN=0;ExAC_NFE=0.0961;ExAC_OTH=0.1532;ExAC_SAS=0.1240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:357,0,507 1 116916105 rs191795671 C T 534.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.334;DP=45;ExcessHet=3.0103;FS=2.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.759;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=UTR5;Gene=NM_000701;GeneDetail=NM_000701:c.-29C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs191795671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0043;1000g2015aug_all=0.0155751;esp6500siv2_all=0.0103;ExAC_ALL=0.0422;ExAC_AFR=0.0055;ExAC_AMR=0.0489;ExAC_EAS=0.0566;ExAC_FIN=0.0962;ExAC_NFE=0.0401;ExAC_OTH=0.0234;ExAC_SAS=0.0470;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,19:45:99:563,0,815 1 116926971 rs12127362 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9,ENST00000537345.5,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0910543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 116927689 rs58766994 A G 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.323;DP=19;ExcessHet=3.0103;FS=14.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.735;SOR=0.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537345.5,ENST00000295598.9,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58766994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0910543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:205,0,361 1 116931023 rs12133039 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9,ENST00000537345.5,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:40:72,0,40 1 116931984 rs12134095 A T 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.453;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-1.304;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9,ENST00000537345.5,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:355,0,362 1 116932563 rs850609 T A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369496.8,ENST00000537345.5,ENST00000295598.9;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs850609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.8357;1000g2015aug_all=0.809904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 116932735 rs56016633 T G 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.227;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.85;ReadPosRankSum=-0.767;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537345.5,ENST00000295598.9,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56016633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0910543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:584,0,405 1 116932771 rs41464748 G A 646.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.188;DP=44;ExcessHet=3.0103;FS=1.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.446;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369496.8,ENST00000295598.9,ENST00000537345.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41464748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,23:44:99:675,0,665 1 116932921 rs11540956 G A 2190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.721;DP=141;ExcessHet=3.0103;FS=2.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.069;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=exonic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP1A1:NM_000701:exon9:c.G1110A:p.T370T,ATP1A1:NM_001160233:exon9:c.G1110A:p.T370T,ATP1A1:NM_001160234:exon9:c.G1017A:p.T339T;Gencode=Name\x3eENST00000369496.8,ENST00000537345.5,ENST00000295598.9;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11540956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0810703;esp6500siv2_all=0.0835;ExAC_ALL=0.0393;ExAC_AFR=0.2138;ExAC_AMR=0.0213;ExAC_EAS=0.0001;ExAC_FIN=0.0133;ExAC_NFE=0.0235;ExAC_OTH=0.0441;ExAC_SAS=0.0362;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,79:141:99:2219,0,1721 1 116933372 rs12130872 G A 767.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.008;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.512;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1;Func=intronic;Gene=NM_000701,NM_001160233,NM_001160234;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295598.9,ENST00000537345.5,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12130872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.045;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.1153;1000g2015aug_all=0.220447;esp6500siv2_all=0.2127;ExAC_ALL=0.0905;ExAC_AFR=0.5991;ExAC_AMR=0.1404;ExAC_EAS=0.0458;ExAC_FIN=0.0180;ExAC_NFE=0.0263;ExAC_OTH=0.0706;ExAC_SAS=0.0462;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,30:61:99:796,0,827 1 116942337 rs12134762 G A 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1,ATP1A1-AS1;Func=ncRNA_intronic;Gene=NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369496.8,ENST00000295598.9,ENST00000537345.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0810703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 116945252 rs115248450 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1-AS1,ATP1A1;Func=ncRNA_intronic;Gene=NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537345.5,ENST00000295598.9,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115248450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0908546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 116946469 rs12136995 C T 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.069;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-1.097;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1,ATP1A1-AS1;Func=ncRNA_intronic;Gene=NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537345.5,ENST00000295598.9,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0908546;esp6500siv2_all=0.0940;ExAC_ALL=0.0425;ExAC_AFR=0.2452;ExAC_AMR=0.0228;ExAC_EAS=0.0001;ExAC_FIN=0.0133;ExAC_NFE=0.0237;ExAC_OTH=0.0465;ExAC_SAS=0.0375;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,10:33:99:216,0,623 1 116946605 rs12139437 T C 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.672;DP=31;ExcessHet=3.0103;FS=1.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.834;SOR=0.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1,ATP1A1-AS1;Func=ncRNA_intronic;Gene=NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537345.5,ENST00000295598.9,ENST00000369496.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0908546;esp6500siv2_all=0.0940;ExAC_ALL=0.0423;ExAC_AFR=0.2454;ExAC_AMR=0.0228;ExAC_EAS=0.0001;ExAC_FIN=0.0133;ExAC_NFE=0.0237;ExAC_OTH=0.0463;ExAC_SAS=0.0366;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:323,0,513 1 116946635 rs10924083 T C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.496;DP=19;ExcessHet=3.0103;FS=2.813;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.3;ReadPosRankSum=0.254;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1-AS1,ATP1A1;Func=ncRNA_intronic;Gene=NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369496.8,ENST00000295598.9,ENST00000537345.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10924083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0908546;esp6500siv2_all=0.0948;ExAC_ALL=0.0426;ExAC_AFR=0.2470;ExAC_AMR=0.0228;ExAC_EAS=0.0001;ExAC_FIN=0.0133;ExAC_NFE=0.0237;ExAC_OTH=0.0454;ExAC_SAS=0.0371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:167,0,397 1 116952787 rs1885802 C T 422.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.382;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.532;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A1-AS1;Func=ncRNA_intronic;Gene=NR_024124,NR_024125,NR_024126,NR_027645,NR_027646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369491.1,ENST00000369492.4;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.045;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.8109;1000g2015aug_amr=0.1268;1000g2015aug_all=0.255791;esp6500siv2_all=.;ExAC_ALL=0.0751;ExAC_AFR=0.7209;ExAC_AMR=0.1370;ExAC_EAS=0.0412;ExAC_FIN=0.0148;ExAC_NFE=0.0238;ExAC_OTH=0.0680;ExAC_SAS=0.0468;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,18:32:99:451,0,340 1 117041471 rs17576615 A G 472.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.256;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.673;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125972,NM_001779;GeneDetail=dist\x3e20023\x3bdist\x3e15685;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456414.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17576615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0274;1000g2015aug_all=0.019369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,18:38:99:501,0,582 1 117122288 rs647711 G C 830.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.591;DP=68;ExcessHet=3.0103;FS=2.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.655;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF3;Func=exonic;Gene=NM_001007237,NM_001542;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGSF3:NM_001007237:exon10:c.C3060G:p.D1020E,IGSF3:NM_001542:exon10:c.C3120G:p.D1040E;Gencode=Name\x3eENST00000369483.5,ENST00000369486.7,ENST00000318837.6;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23\x3bName\x3e"239255:(TCC)n(Simple_repeat)";avsnp150=rs647711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.3241;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.3141;1000g2015aug_all=0.261581;esp6500siv2_all=0.2362;ExAC_ALL=0.2949;ExAC_AFR=0.1447;ExAC_AMR=0.2419;ExAC_EAS=0.1134;ExAC_FIN=0.3714;ExAC_NFE=0.3436;ExAC_OTH=0.2944;ExAC_SAS=0.3088;SIFT_score=0.739;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.638;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=3.95;FATHMM_pred=T;phyloP100way_vertebrate=-3.537;phyloP20way_mammalian=-3.792;SiPhy_29way_logOdds=7.115;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,24:60:99:868,0,2254 1 117142531 rs631461 G A 632.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.085;DP=53;ExcessHet=3.0103;FS=15.194;MLEAC=1;MLEAF=0.5;MQ=57.5;MQRankSum=2.267;QD=11.94;ReadPosRankSum=0.575;SOR=0.017;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF3;Func=intronic;Gene=NM_001007237,NM_001542;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369483.5,ENST00000318837.6,ENST00000369486.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=Score\x3e0.972247\x3bName\x3echr13:18278443;Repeat=.;avsnp150=rs631461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.6772;1000g2015aug_all=0.691094;esp6500siv2_all=0.6242;ExAC_ALL=0.6012;ExAC_AFR=0.7671;ExAC_AMR=0.6467;ExAC_EAS=0.5303;ExAC_FIN=0.5668;ExAC_NFE=0.5603;ExAC_OTH=0.5757;ExAC_SAS=0.6961;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,23:53:99:661,0,1034 1 117146124 rs584423 T C 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.37;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.47;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.952;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF3;Func=intronic;Gene=NM_001007237,NM_001542;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369486.7,ENST00000318837.6,ENST00000369483.5;cytoBand=1p13.1;wgRna=.;genomicSuperDups=Score\x3e0.972247\x3bName\x3echr13:18278443;Repeat=.;avsnp150=rs584423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.3026;1000g2015aug_all=0.213059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:515,0,315 1 117146841 rs547792 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF3;Func=intronic;Gene=NM_001007237,NM_001542;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369483.5,ENST00000369486.7,ENST00000318837.6;cytoBand=1p13.1;wgRna=.;genomicSuperDups=Score\x3e0.972247\x3bName\x3echr13:18278443;Repeat=.;avsnp150=rs547792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.227;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.1029;1000g2015aug_amr=0.2997;1000g2015aug_all=0.208866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 117228217 rs471074 T G 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_031564,NM_001013643;GeneDetail=dist\x3e13768\x3bdist\x3e8517;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2194\x3bName\x3e"239460:AluSg(SINE)";avsnp150=rs471074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.8213;1000g2015aug_all=0.817093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 117236140 rs696661 G A 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.431;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001013643;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs696661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.166;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.2219;1000g2015aug_all=0.240615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,81 1 117236970 rs614477 G C 1081.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.193;DP=64;ExcessHet=3.0103;FS=3.06;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.729;SOR=0.339;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf137;Func=intronic;Gene=NM_001013643;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624685.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs614477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.66;1000g2015aug_afr=0.2965;1000g2015aug_amr=0.5346;1000g2015aug_all=0.389577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,35:64:99:1110,0,885 1 117480163 rs2986539 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=intronic;Gene=NM_020440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2986539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.0591;1000g2015aug_all=0.131589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 117487710 rs10159095 A G 2522.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.702;DP=130;ExcessHet=3.0103;FS=2.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.56;ReadPosRankSum=-0.137;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=exonic;Gene=NM_020440;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTGFRN:NM_020440:exon3:c.A828G:p.P276P;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10159095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.9222;1000g2015aug_all=0.859425;esp6500siv2_all=0.6448;ExAC_ALL=0.8916;ExAC_AFR=0.7868;ExAC_AMR=0.9092;ExAC_EAS=0.8467;ExAC_FIN=0.8411;ExAC_NFE=0.9063;ExAC_OTH=0.8908;ExAC_SAS=0.9275;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,66:129:99:2551,0,3389 1 117487711 rs4546904 T A 2522.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.959;DP=128;ExcessHet=3.0103;FS=3.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=-0.217;SOR=1;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=exonic;Gene=NM_020440;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PTGFRN:NM_020440:exon3:c.T829A:p.S277T;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4546904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.9222;1000g2015aug_all=0.859425;esp6500siv2_all=0.6404;ExAC_ALL=0.8916;ExAC_AFR=0.7867;ExAC_AMR=0.9095;ExAC_EAS=0.8464;ExAC_FIN=0.8410;ExAC_NFE=0.9063;ExAC_OTH=0.8908;ExAC_SAS=0.9275;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.28;MutationAssessor_pred=N;FATHMM_score=3.82;FATHMM_pred=T;phyloP100way_vertebrate=4.223;phyloP20way_mammalian=0.181;SiPhy_29way_logOdds=10.223;gerp++gt2=5.49;CADD=1.073;CADD_Phred=11.07;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,65:127:99:2551,0,3389 1 117509981 rs12410651 G A 1959.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.825;DP=117;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.738;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=intronic;Gene=NM_020440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12410651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.1556;1000g2015aug_all=0.131989;esp6500siv2_all=0.1814;ExAC_ALL=0.1705;ExAC_AFR=0.1639;ExAC_AMR=0.1332;ExAC_EAS=0.0465;ExAC_FIN=0.1011;ExAC_NFE=0.1948;ExAC_OTH=0.1647;ExAC_SAS=0.2061;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,54:117:99:1988,0,2736 1 117509987 rs12403233 C T 1906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.338;DP=113;ExcessHet=3.0103;FS=0.813;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.572;SOR=0.842;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=intronic;Gene=NM_020440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.1556;1000g2015aug_all=0.134385;esp6500siv2_all=0.1799;ExAC_ALL=0.1717;ExAC_AFR=0.1639;ExAC_AMR=0.1340;ExAC_EAS=0.0466;ExAC_FIN=0.1012;ExAC_NFE=0.1956;ExAC_OTH=0.1683;ExAC_SAS=0.2136;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,50:113:99:1935,0,2783 1 117510061 rs12403245 C T 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.104;DP=41;ExcessHet=3.0103;FS=1.435;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-0.841;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=intronic;Gene=NM_020440;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2744\x3bName\x3e"240026:L1MB7(LINE)";avsnp150=rs12403245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.1556;1000g2015aug_all=0.134385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,13:41:99:352,0,893 1 117529458 rs10801922 G A 1805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.965;DP=160;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.162;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGFRN;Func=exonic;Gene=NM_020440;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PTGFRN:NM_020440:exon9:c.G2509A:p.V837I;Gencode=Name\x3eENST00000393203.2;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6597;1000g2015aug_sas=0.591;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.5951;1000g2015aug_all=0.498003;esp6500siv2_all=0.4000;ExAC_ALL=0.4911;ExAC_AFR=0.3057;ExAC_AMR=0.6928;ExAC_EAS=0.6637;ExAC_FIN=0.4356;ExAC_NFE=0.4436;ExAC_OTH=0.4845;ExAC_SAS=0.5895;SIFT_score=0.354;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.050;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.235;MutationAssessor_pred=N;FATHMM_score=3.64;FATHMM_pred=T;phyloP100way_vertebrate=0.622;phyloP20way_mammalian=0.128;SiPhy_29way_logOdds=11.659;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,69:160:99:1834,0,2471 1 117555898 rs2764849 G A 639.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD101;Func=intronic;Gene=NM_001256106,NM_001256109,NM_001256111,NM_004258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256652.8,ENST00000369470.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2764849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9971;1000g2015aug_all=0.992412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:668,66,0 1 117559726 rs2249265 A G 1253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.716;DP=77;ExcessHet=3.0103;FS=4.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.261;SOR=1.291;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD101;Func=exonic;Gene=NM_001256106,NM_001256109,NM_001256111,NM_004258;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD101:NM_001256106:exon5:c.A1243G:p.M415V,CD101:NM_001256109:exon5:c.A1243G:p.M415V,CD101:NM_001256111:exon5:c.A1057G:p.M353V,CD101:NM_004258:exon5:c.A1243G:p.M415V;Gencode=Name\x3eENST00000256652.8,ENST00000369470.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2249265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8462;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.969;1000g2015aug_amr=0.9625;1000g2015aug_all=0.935304;esp6500siv2_all=0.9751;ExAC_ALL=0.9518;ExAC_AFR=0.9712;ExAC_AMR=0.9412;ExAC_EAS=0.8401;ExAC_FIN=0.9072;ExAC_NFE=0.9709;ExAC_OTH=0.9438;ExAC_SAS=0.9463;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.681;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.6;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_pred=T;phyloP100way_vertebrate=-1.528;phyloP20way_mammalian=-2.023;SiPhy_29way_logOdds=1.287;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,42:77:99:1282,0,1077 1 117568093 rs41276566 G T 786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.973;DP=65;ExcessHet=3.0103;FS=2.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0;SOR=0.359;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD101;Func=intronic;Gene=NM_001256106,NM_001256109,NM_001256111,NM_004258;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256652.8,ENST00000369470.1;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41276566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0545128;esp6500siv2_all=0.0183;ExAC_ALL=0.0406;ExAC_AFR=0.0079;ExAC_AMR=0.0583;ExAC_EAS=0.1619;ExAC_FIN=0.0330;ExAC_NFE=0.0244;ExAC_OTH=0.0315;ExAC_SAS=0.0605;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,31:65:99:815,0,986 1 117602960 rs2244501 C A 2043.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.539;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=UTR5;Gene=NM_003594;GeneDetail=NM_003594:c.-9C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.8631;1000g2015aug_all=0.732628;esp6500siv2_all=0.7295;ExAC_ALL=0.8186;ExAC_AFR=0.4592;ExAC_AMR=0.8903;ExAC_EAS=0.8799;ExAC_FIN=0.8064;ExAC_NFE=0.8573;ExAC_OTH=0.8128;ExAC_SAS=0.8116;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2072,194,0 1 117603188 rs2244406 G T 554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.825;DP=41;ExcessHet=3.0103;FS=3.432;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.352;SOR=0.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.7723;1000g2015aug_all=0.716254;esp6500siv2_all=0.6341;ExAC_ALL=0.7013;ExAC_AFR=0.5384;ExAC_AMR=0.8271;ExAC_EAS=0.9302;ExAC_FIN=0.6108;ExAC_NFE=0.6750;ExAC_OTH=0.6693;ExAC_SAS=0.7378;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,21:41:99:583,0,644 1 117616648 rs3767770 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.204;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.2089;1000g2015aug_all=0.227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 117616670 rs3767769 A G 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.18;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.6225;1000g2015aug_all=0.46246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 117617705 rs998532 A G 1071.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.405;DP=65;ExcessHet=3.0103;FS=5.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=2.264;SOR=0.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=exonic;Gene=NM_003594;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTF2:NM_003594:exon5:c.A499G:p.K167E;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs998532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.6671;1000g2015aug_all=0.514577;esp6500siv2_all=0.4693;ExAC_ALL=0.5755;ExAC_AFR=0.1880;ExAC_AMR=0.6958;ExAC_EAS=0.7424;ExAC_FIN=0.5256;ExAC_NFE=0.5953;ExAC_OTH=0.5793;ExAC_SAS=0.5861;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_pred=L;FATHMM_score=-2.32;FATHMM_pred=D;phyloP100way_vertebrate=0.235;phyloP20way_mammalian=0.230;SiPhy_29way_logOdds=5.315;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,39:65:99:1100,0,755 1 117618067 rs1289673 C T 1050.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.823;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.063;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=exonic;Gene=NM_003594;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTF2:NM_003594:exon5:c.C861T:p.N287N;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.112;1000g2015aug_amr=0.6686;1000g2015aug_all=0.513778;esp6500siv2_all=0.4686;ExAC_ALL=0.5747;ExAC_AFR=0.1845;ExAC_AMR=0.6942;ExAC_EAS=0.7417;ExAC_FIN=0.5254;ExAC_NFE=0.5950;ExAC_OTH=0.5795;ExAC_SAS=0.5855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,38:71:99:1079,0,971 1 117618722 rs1289672 T C 1130.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.88;SOR=2.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9957;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1159,93,0 1 117621947 rs55757120 G C 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-2.227;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55757120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.1643;1000g2015aug_all=0.139377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,202 1 117622286 rs2801939 A G 1007.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.127;DP=73;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.873;SOR=0.477;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e670\x3bName\x3e"240221:MIR(SINE)";avsnp150=rs2801939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.66;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.6945;1000g2015aug_all=0.539537;esp6500siv2_all=0.5367;ExAC_ALL=0.6406;ExAC_AFR=0.2122;ExAC_AMR=0.7253;ExAC_EAS=0.7433;ExAC_FIN=0.6477;ExAC_NFE=0.6841;ExAC_OTH=0.6564;ExAC_SAS=0.6180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,41:73:99:1036,0,833 1 117631391 rs1555792 T C 840.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9294;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.9481;1000g2015aug_all=0.908546;esp6500siv2_all=0.8654;ExAC_ALL=0.9149;ExAC_AFR=0.7766;ExAC_AMR=0.9614;ExAC_EAS=1;ExAC_FIN=0.8781;ExAC_NFE=0.9090;ExAC_OTH=0.9107;ExAC_SAS=0.9660;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:869,69,0 1 117633366 rs2296447 T C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.652;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTF2;Func=intronic;Gene=NM_003594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369466.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.1311;1000g2015aug_all=0.120607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:92:92,0,112 1 117656088 rs1289658 A G 1247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.628;DP=86;ExcessHet=3.0103;FS=2.868;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=1.367;SOR=1.006;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=exonic;Gene=NM_001145635,NM_025188;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRIM45:NM_001145635:exon5:c.T1433C:p.M478T,TRIM45:NM_025188:exon5:c.T1487C:p.M496T;Gencode=Name\x3eENST00000369461.3,ENST00000369464.7,ENST00000256649.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.6793;1000g2015aug_amr=0.4755;1000g2015aug_all=0.445088;esp6500siv2_all=0.4757;ExAC_ALL=0.4145;ExAC_AFR=0.6391;ExAC_AMR=0.4229;ExAC_EAS=0.2104;ExAC_FIN=0.3705;ExAC_NFE=0.4147;ExAC_OTH=0.4249;ExAC_SAS=0.3903;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.096;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.625;MutationAssessor_pred=N;FATHMM_score=2.08;FATHMM_pred=T;phyloP100way_vertebrate=0.049;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=3.883;gerp++gt2=3.99;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,45:86:99:1276,0,1102 1 117656276 rs1290530 A G 482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.277;DP=28;ExcessHet=3.0103;FS=16.244;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-0.073;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=intronic;Gene=NM_001145635,NM_025188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256649.8,ENST00000369464.7,ENST00000369461.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1290530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.4712;1000g2015aug_all=0.409744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,15:27:99:511,0,384 1 117659352 rs3738413 C T 811.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.865;DP=63;ExcessHet=3.0103;FS=0.954;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.41;SOR=0.766;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=exonic;Gene=NM_001145635,NM_025188;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRIM45:NM_001145635:exon3:c.G1184A:p.R395Q,TRIM45:NM_025188:exon3:c.G1238A:p.R413Q;Gencode=Name\x3eENST00000256649.8,ENST00000369461.3,ENST00000369464.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.1037;1000g2015aug_all=0.091254;esp6500siv2_all=0.0912;ExAC_ALL=0.1046;ExAC_AFR=0.0592;ExAC_AMR=0.1390;ExAC_EAS=0.1450;ExAC_FIN=0.1367;ExAC_NFE=0.1026;ExAC_OTH=0.1082;ExAC_SAS=0.0831;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.838;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=1.99;MutationAssessor_pred=M;FATHMM_score=-1.89;FATHMM_pred=D;phyloP100way_vertebrate=0.701;phyloP20way_mammalian=0.920;SiPhy_29way_logOdds=15.811;gerp++gt2=5.09;CADD=5.870;CADD_Phred=27.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,32:63:99:840,0,867 1 117660608 rs1289655 C T 133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.371;DP=18;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-0.938;SOR=0.052;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=intronic;Gene=NM_001145635,NM_025188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256649.8,ENST00000369464.7,ENST00000369461.3;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.8804;1000g2015aug_all=0.868011;esp6500siv2_all=0.8734;ExAC_ALL=0.8829;ExAC_AFR=0.8323;ExAC_AMR=0.8539;ExAC_EAS=0.8538;ExAC_FIN=0.8632;ExAC_NFE=0.8967;ExAC_OTH=0.8867;ExAC_SAS=0.9173;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:162,0,435 1 117660754 rs749902 C T 765.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.094;DP=71;ExcessHet=3.0103;FS=10.364;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.802;SOR=1.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=exonic;Gene=NM_001145635,NM_025188;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRIM45:NM_001145635:exon2:c.G1124A:p.C375Y,TRIM45:NM_025188:exon2:c.G1124A:p.C375Y;Gencode=Name\x3eENST00000369464.7,ENST00000369461.3,ENST00000256649.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs749902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.3674;1000g2015aug_all=0.224641;esp6500siv2_all=0.2957;ExAC_ALL=0.2936;ExAC_AFR=0.2257;ExAC_AMR=0.3653;ExAC_EAS=0.0312;ExAC_FIN=0.3153;ExAC_NFE=0.3395;ExAC_OTH=0.3117;ExAC_SAS=0.2283;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.241;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-1.38;FATHMM_pred=T;phyloP100way_vertebrate=1.401;phyloP20way_mammalian=0.103;SiPhy_29way_logOdds=5.400;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,29:71:99:794,0,1139 1 117663913 rs3795655 C T 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.281;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.431;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM45;Func=UTR5;Gene=NM_001145635,NM_025188;GeneDetail=NM_001145635:c.-90G>A\x3bNM_025188:c.-90G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256649.8,ENST00000369461.3,ENST00000369464.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9673;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.6282;1000g2015aug_all=0.766573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,12:33:99:322,0,620 1 117676902 rs7534610 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025188,NM_001253849;GeneDetail=dist\x3e12491\x3bdist\x3e9307;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2333\x3bName\x3e"240312:AluSg(SINE)";avsnp150=rs7534610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8909;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.6596;1000g2015aug_amr=0.7896;1000g2015aug_all=0.730831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 117690272 rs10754339 G A 841.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVTCN1;Func=UTR3;Gene=NM_001253849,NM_001253850,NM_024626;GeneDetail=NM_001253849:c.*8C>T\x3bNM_001253850:c.*8C>T\x3bNM_024626:c.*8C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369458.7,ENST00000359008.8,ENST00000539893.5,ENST00000328189.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9206;1000g2015aug_sas=0.8538;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.2897;1000g2015aug_amr=0.8718;1000g2015aug_all=0.734625;esp6500siv2_all=0.7513;ExAC_ALL=0.8725;ExAC_AFR=0.3789;ExAC_AMR=0.9353;ExAC_EAS=0.8939;ExAC_FIN=0.9575;ExAC_NFE=0.9262;ExAC_OTH=0.8921;ExAC_SAS=0.8761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:77:870,77,0 1 117715026 rs6657810 C T 1003.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.076;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.341;SOR=0.769;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVTCN1;Func=intronic;Gene=NM_001253849,NM_001253850,NM_024626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430871.3,ENST00000539893.5,ENST00000328189.7,ENST00000369458.7,ENST00000359008.8;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.635;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.6556;1000g2015aug_all=0.653954;esp6500siv2_all=0.5832;ExAC_ALL=0.6476;ExAC_AFR=0.5159;ExAC_AMR=0.7285;ExAC_EAS=0.9022;ExAC_FIN=0.6878;ExAC_NFE=0.6125;ExAC_OTH=0.5808;ExAC_SAS=0.6484;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,39:74:99:1032,0,831 1 117716106 rs55639845 T A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVTCN1;Func=intronic;Gene=NM_001253849,NM_001253850,NM_024626;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539893.5,ENST00000328189.7,ENST00000430871.3,ENST00000369458.7;cytoBand=1p13.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1667\x3bName\x3e"240394:MLT1C(LTR)";avsnp150=rs55639845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2248;1000g2015aug_all=0.129393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:110,0,34 1 117910682 rs1146297 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=UTR5;Gene=NM_006699;GeneDetail=NM_006699:c.-124G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.6772;1000g2015aug_all=0.780152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 117941924 rs1316011 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1316011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.8654;1000g2015aug_amr=0.6744;1000g2015aug_all=0.758387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 117944663 rs1289940 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.245;1000g2015aug_all=0.174321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 117957288 rs1289948 A G 707.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1289948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.816;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.8888;1000g2015aug_amr=0.6744;1000g2015aug_all=0.764776;esp6500siv2_all=0.7997;ExAC_ALL=0.7532;ExAC_AFR=0.8666;ExAC_AMR=0.6301;ExAC_EAS=0.5931;ExAC_FIN=0.7242;ExAC_NFE=0.7667;ExAC_OTH=0.7757;ExAC_SAS=0.8103;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:736,54,0 1 117984776 rs2306444 A T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.325;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2306444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2046;1000g2015aug_all=0.288538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,298 1 118039722 rs7553018 C T 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.69;ReadPosRankSum=-0.951;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.2046;1000g2015aug_all=0.290935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,12:17:99:448,0,158 1 118045747 rs12728046 A G 171.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=0.887;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.2334;1000g2015aug_all=0.147564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:200,0,18 1 118053126 rs41506254 T C 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.701;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.434;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41506254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.1859;1000g2015aug_all=0.236621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:186,0,267 1 118065284 rs34350477 C G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=intronic;Gene=NM_006699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34350477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1859;1000g2015aug_all=0.235224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 118065841 rs1290558 A G 977.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.194;DP=69;ExcessHet=3.0103;FS=2.088;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.141;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=UTR3;Gene=NM_006699;GeneDetail=NM_006699:c.*262A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1290558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.5706;1000g2015aug_all=0.417133;esp6500siv2_all=.;ExAC_ALL=0.3864;ExAC_AFR=0.4360;ExAC_AMR=0.5578;ExAC_EAS=0.4275;ExAC_FIN=0.3478;ExAC_NFE=0.3818;ExAC_OTH=0.3935;ExAC_SAS=0.3806;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,34:69:99:1006,0,943 1 118068034 rs41312696 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAN1A2;Func=UTR3;Gene=NM_006699;GeneDetail=NM_006699:c.*2455A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356554.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41312696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.2032;1000g2015aug_all=0.28135;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 118126596 rs35303500 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006699,NR_121626;GeneDetail=dist\x3e58276\x3bdist\x3e12858;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2133\x3bName\x3e"241202:Tigger2a(DNA)";avsnp150=rs35303500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.143;1000g2015aug_amr=0.4193;1000g2015aug_all=0.290136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 118126621 rs34564754 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006699,NR_121626;GeneDetail=dist\x3e58301\x3bdist\x3e12833;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2133\x3bName\x3e"241202:Tigger2a(DNA)";avsnp150=rs34564754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 118165328 rs844108 T C 306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.199;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.077;SOR=0.289;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM46C;Func=intronic;Gene=NM_017709;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369448.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e342\x3bName\x3e"241259:MIR(SINE)";avsnp150=rs844108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.3069;1000g2015aug_all=0.26238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:335,0,657 1 118165973 rs1627787 C T 1252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.395;DP=91;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.58;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM46C;Func=exonic;Gene=NM_017709;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM46C:NM_017709:exon2:c.C483T:p.N161N;Gencode=Name\x3eENST00000369448.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1627787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.3127;1000g2015aug_all=0.279752;esp6500siv2_all=0.2575;ExAC_ALL=0.2556;ExAC_AFR=0.3228;ExAC_AMR=0.3099;ExAC_EAS=0.2096;ExAC_FIN=0.2194;ExAC_NFE=0.2325;ExAC_OTH=0.2687;ExAC_SAS=0.3067;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,46:91:99:1281,0,1207 1 118166096 rs2884587 C T 1126.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.575;DP=84;ExcessHet=3.0103;FS=7.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=3.772;SOR=0.249;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM46C;Func=exonic;Gene=NM_017709;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM46C:NM_017709:exon2:c.C606T:p.I202I;Gencode=Name\x3eENST00000369448.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2884587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.2233;1000g2015aug_all=0.134385;esp6500siv2_all=0.1256;ExAC_ALL=0.1704;ExAC_AFR=0.0379;ExAC_AMR=0.2413;ExAC_EAS=0.0886;ExAC_FIN=0.1561;ExAC_NFE=0.1733;ExAC_OTH=0.1869;ExAC_SAS=0.2395;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,40:84:99:1155,0,1409 1 118166750 rs2066411 A G 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-1.334;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM46C;Func=UTR3;Gene=NM_017709;GeneDetail=NM_017709:c.*84A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369448.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.2237;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.3098;1000g2015aug_all=0.239816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:325,0,283 1 118176944 rs184383 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e5933\x3bdist\x3e229163;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs184383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9792;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9654;1000g2015aug_all=0.96905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 118183659 rs1775826 A C 512.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e12648\x3bdist\x3e222448;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1775826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4286;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.6023;1000g2015aug_all=0.489417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:541,51,0 1 118320644 rs1780028 A G 46.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.52;QD=23.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e149633\x3bdist\x3e85463;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.988155\x3bName\x3echr1:23960928;Repeat=.;avsnp150=rs1780028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.8775;1000g2015aug_all=0.802117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:74,6,0 1 118320859 rs1775749 T A 342.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.48;QD=31.16;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e149848\x3bdist\x3e85248;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.988155\x3bName\x3echr1:23960928;Repeat=.;avsnp150=rs1775749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:371,33,0 1 118321119 rs1655201 T C 802.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.88;QD=33.45;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e150108\x3bdist\x3e84988;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.988155\x3bName\x3echr1:23960928;Repeat=.;avsnp150=rs1655201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.8775;1000g2015aug_all=0.802316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:831,72,0 1 118329209 rs1655197 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017709,NM_017686;GeneDetail=dist\x3e158198\x3bdist\x3e76898;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1243\x3bName\x3e"241510:L1MEg(LINE)";avsnp150=rs1655197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.8761;1000g2015aug_all=0.804313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 118420452 rs733833 C G 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=1.158;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGDAP2;Func=UTR3;Gene=NM_001135589;GeneDetail=NM_001135589:c.*134G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369443.9,ENST00000369442.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs733833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.084;1000g2015aug_amr=0.3934;1000g2015aug_all=0.280751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 118424269 rs10923444 C T 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.371;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-2.005;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGDAP2;Func=intronic;Gene=NM_001135589,NM_017686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369442.3,ENST00000369443.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.093;1000g2015aug_amr=0.3934;1000g2015aug_all=0.280152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:211,0,497 1 118523869 rs140746272 A G 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.729;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.696;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs140746272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000798722;esp6500siv2_all=0.0003;ExAC_ALL=0.0017;ExAC_AFR=9.666e-05;ExAC_AMR=8.652e-05;ExAC_EAS=0.0100;ExAC_FIN=0.0044;ExAC_NFE=0.0013;ExAC_OTH=0.0023;ExAC_SAS=6.774e-05;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,18:36:99:541,0,449 1 118526592 rs4347199 G A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4347199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.9265;1000g2015aug_all=0.850439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 118550444 rs942902 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.674;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.365;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.4121;1000g2015aug_all=0.285942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 118554711 rs6428725 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6428725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.708;1000g2015aug_amr=0.4971;1000g2015aug_all=0.564097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 118565953 rs10923472 G A 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.113;DP=50;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.204;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=exonic;Gene=NM_206996;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPAG17:NM_206996:exon28:c.C4043T:p.P1348L;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923472;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.365;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.4107;1000g2015aug_all=0.28734;esp6500siv2_all=0.3655;ExAC_ALL=0.3948;ExAC_AFR=0.2008;ExAC_AMR=0.3561;ExAC_EAS=0.1531;ExAC_FIN=0.4787;ExAC_NFE=0.4536;ExAC_OTH=0.3969;ExAC_SAS=0.3989;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.030;LRT_pred=N;MutationTaster_score=0.226;MutationTaster_pred=P;MutationAssessor_score=2.96;MutationAssessor_pred=M;FATHMM_score=2.07;FATHMM_pred=T;phyloP100way_vertebrate=3.458;phyloP20way_mammalian=0.045;SiPhy_29way_logOdds=15.189;gerp++gt2=5.63;CADD=3.821;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,23:50:99:640,0,745 1 118583408 rs10923477 G A 464.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.049;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.251;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=exonic;Gene=NM_206996;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPAG17:NM_206996:exon22:c.C3111T:p.Y1037Y;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.365;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.4135;1000g2015aug_all=0.288538;esp6500siv2_all=0.3704;ExAC_ALL=0.3988;ExAC_AFR=0.2011;ExAC_AMR=0.3571;ExAC_EAS=0.1517;ExAC_FIN=0.4862;ExAC_NFE=0.4599;ExAC_OTH=0.4020;ExAC_SAS=0.3998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:493,0,290 1 118617274 rs1935993 C T 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.734;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-1.597;SOR=0.663;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1935993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.4625;1000g2015aug_all=0.428315;esp6500siv2_all=0.5365;ExAC_ALL=0.4667;ExAC_AFR=0.6024;ExAC_AMR=0.3922;ExAC_EAS=0.1582;ExAC_FIN=0.5395;ExAC_NFE=0.5060;ExAC_OTH=0.4441;ExAC_SAS=0.4072;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,12:29:99:346,0,421 1 118629125 rs2798150 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2798150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9957;1000g2015aug_all=0.986222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 118644430 rs10754367 A G 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.507;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.1;ReadPosRankSum=-0.493;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=exonic;Gene=NM_206996;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPAG17:NM_206996:exon5:c.T567C:p.N189N;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4534;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.5072;1000g2015aug_all=0.563898;esp6500siv2_all=0.6049;ExAC_ALL=0.5520;ExAC_AFR=0.6958;ExAC_AMR=0.4327;ExAC_EAS=0.4359;ExAC_FIN=0.5758;ExAC_NFE=0.5627;ExAC_OTH=0.5341;ExAC_SAS=0.5534;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:120,0,319 1 118644524 rs17185492 T A 216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.287;DP=21;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.711;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=exonic;Gene=NM_206996;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPAG17:NM_206996:exon5:c.A473T:p.E158V;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17185492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.147;1000g2015aug_all=0.115815;esp6500siv2_all=0.1486;ExAC_ALL=0.1670;ExAC_AFR=0.0434;ExAC_AMR=0.0924;ExAC_EAS=0.1152;ExAC_FIN=0.2731;ExAC_NFE=0.2016;ExAC_OTH=0.1696;ExAC_SAS=0.1417;SIFT_score=0.037;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.535;MutationTaster_pred=P;MutationAssessor_score=2.51;MutationAssessor_pred=M;FATHMM_score=-0.0;FATHMM_pred=T;phyloP100way_vertebrate=3.050;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=13.067;gerp++gt2=5.39;CADD=6.054;CADD_Phred=28.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,9:21:99:245,0,336 1 118693016 rs76419145 T G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=intronic;Gene=NM_206996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76419145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.1412;1000g2015aug_all=0.121605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 118693217 rs1935992 T C 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.616;DP=31;ExcessHet=3.0103;FS=3.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=0.293;SOR=1.525;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPAG17;Func=exonic;Gene=NM_206996;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPAG17:NM_206996:exon3:c.A264G:p.S88S;Gencode=Name\x3eENST00000336338.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1935992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.3458;1000g2015aug_all=0.227037;esp6500siv2_all=0.1605;ExAC_ALL=0.2430;ExAC_AFR=0.0423;ExAC_AMR=0.4596;ExAC_EAS=0.3825;ExAC_FIN=0.2637;ExAC_NFE=0.2201;ExAC_OTH=0.2544;ExAC_SAS=0.2246;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:518,0,351 1 119466275 rs4659129 A G 1348.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=3.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX15;Func=intronic;Gene=NM_001330677,NM_152380;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369429.3,ENST00000207157.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7817;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.6196;1000g2015aug_all=0.641573;esp6500siv2_all=0.6510;ExAC_ALL=0.6598;ExAC_AFR=0.5865;ExAC_AMR=0.6313;ExAC_EAS=0.7787;ExAC_FIN=0.6521;ExAC_NFE=0.6776;ExAC_OTH=0.6641;ExAC_SAS=0.5956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1377,108,0 1 119466374 rs1766793 G T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.19;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX15;Func=intronic;Gene=NM_001330677,NM_152380;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000207157.7,ENST00000369429.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1766793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6354;1000g2015aug_all=0.674321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 119466439 rs1766794 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX15;Func=intronic;Gene=NM_001330677,NM_152380;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000207157.7,ENST00000369429.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1766794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.8807;1000g2015aug_afr=0.68;1000g2015aug_amr=0.7392;1000g2015aug_all=0.776957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 119467127 rs1779437 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.26;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX15;Func=intronic;Gene=NM_001330677,NM_152380;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000207157.7,ENST00000369429.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.7157;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.634;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 119627856 rs6658479 C T 523.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.507;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.333;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWARS2;Func=intronic;Gene=NM_015836,NM_201263;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235521.4,ENST00000369426.9;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.913133\x3bName\x3echrX:130411345;Repeat=.;avsnp150=rs6658479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3889;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.2608;1000g2015aug_all=0.449081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:552,0,454 1 119775926 rs1341801 C A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929147;Func=ncRNA_intronic;Gene=NR_125975,NR_125976;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418015.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1341801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.9784;1000g2015aug_all=0.899161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 119815392 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929147;Func=ncRNA_intronic;Gene=NR_125975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418015.1,ENST00000457719.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"244028:AluSx(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 119815415 rs6428813 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929147;Func=ncRNA_intronic;Gene=NR_125975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457719.1,ENST00000418015.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"244028:AluSx(SINE)";avsnp150=rs6428813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9493;1000g2015aug_amr=0.9957;1000g2015aug_all=0.984625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 119852935 rs10923798 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125975,NR_146623;GeneDetail=dist\x3e34339\x3bdist\x3e17940;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457719.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2022\x3bName\x3e"244105:MLT1I-int(LTR)";avsnp150=rs10923798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.587;1000g2015aug_amr=0.9035;1000g2015aug_all=0.777955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 119923531 rs2224995 A C 1116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.735;DP=73;ExcessHet=3.0103;FS=8.311;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.2;SOR=0.211;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHAO2;Func=intronic;Gene=NM_001005783,NM_016527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361035.8,ENST00000325945.3,ENST00000622548.4;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2224995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.7291;1000g2015aug_all=0.66853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,40:73:99:1145,0,955 1 119927680 rs6667679 A G 1229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.551;DP=93;ExcessHet=3.0103;FS=6.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.772;SOR=1.401;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHAO2;Func=intronic;Gene=NM_001005783,NM_016527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361035.8,ENST00000325945.3,ENST00000622548.4;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.7291;1000g2015aug_all=0.667532;esp6500siv2_all=0.6459;ExAC_ALL=0.6586;ExAC_AFR=0.7014;ExAC_AMR=0.7754;ExAC_EAS=0.6977;ExAC_FIN=0.6716;ExAC_NFE=0.6321;ExAC_OTH=0.6125;ExAC_SAS=0.6337;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,42:93:99:1258,0,1435 1 119960296 rs2854962 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.55;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B2;Func=intronic;Gene=NM_000198,NM_001166120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369416.3,ENST00000543831.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2854962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.662;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.7608;1000g2015aug_all=0.698083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 119960297 rs2793133 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.55;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B2;Func=intronic;Gene=NM_000198,NM_001166120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369416.3,ENST00000543831.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2793133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.662;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.7608;1000g2015aug_all=0.698283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 119960304 rs2854963 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.55;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B2;Func=intronic;Gene=NM_000198,NM_001166120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369416.3,ENST00000543831.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2854963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.662;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.7608;1000g2015aug_all=0.698283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 119964255 rs58154933 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B2;Func=intronic;Gene=NM_000198,NM_001166120;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369416.3,ENST00000543831.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58154933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.2277;1000g2015aug_all=0.3127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:70:71,0,70 1 119987849 rs75755272 G C 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.833;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.174;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001166120,NM_000862;GeneDetail=dist\x3e22187\x3bdist\x3e61977;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75755272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.0548;1000g2015aug_all=0.11222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:168,0,146 1 119988512 rs10923824 G A 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.166;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.163;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001166120,NM_000862;GeneDetail=dist\x3e22850\x3bdist\x3e61314;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10923824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.363;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.2305;1000g2015aug_all=0.338059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,196 1 120050463 rs2236780 A G 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B1;Func=intronic;Gene=NM_000862,NM_001328615;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369413.7,ENST00000528909.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8641;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.6809;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.7464;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:363,0,277 1 120057158 rs6203 C T 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.386;DP=61;ExcessHet=3.0103;FS=2.286;MLEAC=1;MLEAF=0.5;MQ=58.89;MQRankSum=-0.408;QD=10.46;ReadPosRankSum=-0.617;SOR=1.099;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B1;Func=exonic;Gene=NM_000862,NM_001328615;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSD3B1:NM_000862:exon4:c.C1012T:p.L338L,HSD3B1:NM_001328615:exon4:c.C1012T:p.L338L;Gencode=Name\x3eENST00000369413.7,ENST00000528909.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.4813;1000g2015aug_all=0.366813;esp6500siv2_all=0.3219;ExAC_ALL=0.4388;ExAC_AFR=0.0873;ExAC_AMR=0.5811;ExAC_EAS=0.6688;ExAC_FIN=0.5474;ExAC_NFE=0.4353;ExAC_OTH=0.4636;ExAC_SAS=0.4103;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,27:61:99:666,0,914 1 120057246 rs1047303 C A 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.132;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57;MQRankSum=-1.519;QD=6.99;ReadPosRankSum=0.435;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3B1;Func=exonic;Gene=NM_000862,NM_001328615;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HSD3B1:NM_000862:exon4:c.C1100A:p.T367N,HSD3B1:NM_001328615:exon4:c.C1100A:p.T367N;Gencode=Name\x3eENST00000528909.1,ENST00000369413.7;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1047303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.66;1000g2015aug_afr=0.9145;1000g2015aug_amr=0.7954;1000g2015aug_all=0.833466;esp6500siv2_all=0.7492;ExAC_ALL=0.7554;ExAC_AFR=0.8897;ExAC_AMR=0.8599;ExAC_EAS=0.9376;ExAC_FIN=0.7499;ExAC_NFE=0.6797;ExAC_OTH=0.7322;ExAC_SAS=0.8118;SIFT_score=0.303;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.233;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.52;MutationAssessor_pred=M;FATHMM_score=-0.58;FATHMM_pred=T;phyloP100way_vertebrate=-0.311;phyloP20way_mammalian=-2.891;SiPhy_29way_logOdds=4.839;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,7:23:99:189,0,513 1 120088317 rs2885613 T C 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000862,NR_033781;GeneDetail=dist\x3e30636\x3bdist\x3e18186;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2885613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7176;1000g2015aug_all=0.670128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 120088356 rs2885614 A G 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000862,NR_033781;GeneDetail=dist\x3e30675\x3bdist\x3e18147;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2885614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7176;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 120088400 rs5009592 C T 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000862,NR_033781;GeneDetail=dist\x3e30719\x3bdist\x3e18103;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5009592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7176;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 120088430 rs6663497 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000862,NR_033781;GeneDetail=dist\x3e30749\x3bdist\x3e18073;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7176;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 120111662 rs2885796 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD3BP4;Func=ncRNA_exonic;Gene=NR_033781;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.926446\x3bName\x3echr1:119593369;Repeat=Score\x3e4694\x3bName\x3e"244461:LTR1A2(LTR)";avsnp150=rs2885796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.7141;1000g2015aug_amr=0.8012;1000g2015aug_all=0.721046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 120144023 rs7519907 C T 726.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036540,NM_001080470;GeneDetail=dist\x3e2109\x3bdist\x3e17977;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.926446\x3bName\x3echr1:119555953;Repeat=.;avsnp150=rs7519907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.4352;1000g2015aug_all=0.472444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:755,66,0 1 120150949 rs10923875 T C 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036540,NM_001080470;GeneDetail=dist\x3e9035\x3bdist\x3e11051;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.926446\x3bName\x3echr1:119555953;Repeat=.;avsnp150=rs10923875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.3374;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.4251;1000g2015aug_all=0.402955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:101,0,30 1 120165826 rs12076924 C T 975.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.762;DP=67;ExcessHet=3.0103;FS=8.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.127;SOR=0.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF697;Func=exonic;Gene=NM_001080470;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZNF697:NM_001080470:exon3:c.G1140A:p.P380P;Gencode=Name\x3eENST00000421812.2;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12076924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.6484;1000g2015aug_all=0.715855;esp6500siv2_all=0.6770;ExAC_ALL=0.7163;ExAC_AFR=0.8615;ExAC_AMR=0.7001;ExAC_EAS=0.8440;ExAC_FIN=0.6887;ExAC_NFE=0.6792;ExAC_OTH=0.6873;ExAC_SAS=0.7213;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,39:67:99:1004,0,830 1 120166681 rs12067843 G A 701.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.715;DP=53;ExcessHet=3.0103;FS=2.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.317;SOR=1.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF697;Func=exonic;Gene=NM_001080470;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZNF697:NM_001080470:exon3:c.C285T:p.S95S;Gencode=Name\x3eENST00000421812.2;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12067843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.636;1000g2015aug_eur=0.503;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.5893;1000g2015aug_all=0.672324;esp6500siv2_all=0.5780;ExAC_ALL=0.5715;ExAC_AFR=0.7843;ExAC_AMR=0.5879;ExAC_EAS=0.8096;ExAC_FIN=0.5402;ExAC_NFE=0.4927;ExAC_OTH=0.5594;ExAC_SAS=0.6407;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,27:53:99:730,0,650 1 120254506 rs561931 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=UTR5;Gene=NM_006623;GeneDetail=NM_006623:c.-140A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"244677:GA-rich(Low_complexity)";avsnp150=rs561931;cosmic70=.;CLNALLELEID=276862;CLNDN=Phosphoglycerate_dehydrogenase_deficiency;CLNDISDB=MedGen:C1866174,OMIM:601815;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9256;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.6844;1000g2015aug_all=0.698283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 120254545 rs562038 G C 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=UTR5;Gene=NM_006623;GeneDetail=NM_006623:c.-101G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369409.8;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"244677:GA-rich(Low_complexity)";avsnp150=rs562038;cosmic70=.;CLNALLELEID=276166;CLNDN=Phosphoglycerate_dehydrogenase_deficiency;CLNDISDB=MedGen:C1866174,OMIM:601815;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.755;1000g2015aug_all=0.817492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 120255126 rs478093 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=intronic;Gene=NM_006623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369409.8;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs478093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMetabolite_levels;1000g2015aug_eas=0.9266;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.7464;1000g2015aug_all=0.789936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 120263657 rs894079 A G 936.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=intronic;Gene=NM_006623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369409.8,ENST00000369407.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs894079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.1744;1000g2015aug_all=0.296326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:965,84,0 1 120263834 rs769991971 C T 846.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.078;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.515;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=exonic;Gene=NM_006623;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PHGDH:NM_006623:exon2:c.C180T:p.T60T;Gencode=Name\x3eENST00000369409.8,ENST00000369407.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs769991971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=1.647e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,37:87:99:875,0,1276 1 120267544 rs1886736 C T 2332.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.257;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=intronic;Gene=NM_006623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369409.8,ENST00000369407.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.1499;1000g2015aug_all=0.257188;esp6500siv2_all=.;ExAC_ALL=0.1583;ExAC_AFR=0.3885;ExAC_AMR=0.1489;ExAC_EAS=0.2788;ExAC_FIN=0.5;ExAC_NFE=0.1002;ExAC_OTH=0.1136;ExAC_SAS=0.1659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2361,218,0 1 120269567 rs2236398 G C 5431.77 PASS AC=2;AF=1;AN=2;DP=159;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=intronic;Gene=NM_006623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369407.3,ENST00000369409.8;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.1513;1000g2015aug_all=0.255791;esp6500siv2_all=0.2015;ExAC_ALL=0.1593;ExAC_AFR=0.3856;ExAC_AMR=0.0950;ExAC_EAS=0.3154;ExAC_FIN=0.1430;ExAC_NFE=0.1140;ExAC_OTH=0.1233;ExAC_SAS=0.172;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,159:159:99:5460,478,0 1 120269991 rs616111 C G 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHGDH;Func=intronic;Gene=NM_006623;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369409.8,ENST00000369407.3;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3695\x3bName\x3e"244698:LTR43(LTR)";avsnp150=rs616111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.6916;1000g2015aug_all=0.763978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 120293367 rs667246 T C 337.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.802;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-1.214;SOR=0.577;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCS2;Func=intronic;Gene=NM_001166107,NM_005518;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369406.7,ENST00000544913.2;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs667246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.671;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.7378;1000g2015aug_all=0.688698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,16:39:99:366,0,636 1 120293748 rs566864 T G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=1.18;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCS2;Func=intronic;Gene=NM_001166107,NM_005518;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369406.7,ENST00000544913.2;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs566864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6438;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.672;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.7507;1000g2015aug_all=0.725439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:63:63,0,120 1 120311041 rs2843018 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMGCS2;Func=intronic;Gene=NM_001166107,NM_005518;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369406.7,ENST00000544913.2;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2843018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.12;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.767;1000g2015aug_amr=0.4308;1000g2015aug_all=0.446486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 120333333 rs935058 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005518,NM_001159352;GeneDetail=dist\x3e21778\x3bdist\x3e3308;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs935058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.411;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.5807;1000g2015aug_all=0.453275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 120333335 rs935057 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005518,NM_001159352;GeneDetail=dist\x3e21780\x3bdist\x3e3306;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs935057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.411;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.5807;1000g2015aug_all=0.453075;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 120336785 rs1052972 C T 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.601;DP=43;ExcessHet=3.0103;FS=1.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.17;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=UTR3;Gene=NM_001159352,NM_032044;GeneDetail=NM_001159352:c.*456G>A\x3bNM_032044:c.*456G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256585.9,ENST00000354219.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.4121;1000g2015aug_all=0.536741;esp6500siv2_all=0.6163;ExAC_ALL=0.5243;ExAC_AFR=0.7398;ExAC_AMR=0.3377;ExAC_EAS=0.2302;ExAC_FIN=0.4776;ExAC_NFE=0.5569;ExAC_OTH=0.5289;ExAC_SAS=0.5897;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,18:42:99:421,0,570 1 120336876 rs699778 T G 439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.401;DP=27;ExcessHet=3.0103;FS=8.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=0.244;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=UTR3;Gene=NM_001159352,NM_032044;GeneDetail=NM_001159352:c.*365A>C\x3bNM_032044:c.*365A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256585.9,ENST00000354219.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.411;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.5821;1000g2015aug_all=0.458267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,15:27:99:468,0,352 1 120337384 rs947270 T C 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.521;DP=22;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.594;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=intronic;Gene=NM_001159352,NM_032044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530654.1,ENST00000256585.9,ENST00000354219.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.5821;1000g2015aug_all=0.458666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:317,0,435 1 120337403 rs947271 A G 170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.437;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.101;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=intronic;Gene=NM_001159352,NM_032044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256585.9,ENST00000530654.1,ENST00000354219.5;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.5821;1000g2015aug_all=0.459065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:199,0,362 1 120340918 rs1163541 G A 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=intronic;Gene=NM_001159352,NM_032044;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354219.5,ENST00000530654.1,ENST00000256585.9;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e506\x3bName\x3e"244829:MER113(DNA)";avsnp150=rs1163541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.7655;1000g2015aug_amr=0.804;1000g2015aug_all=0.775759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 120345229 rs61789690 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREG4;Func=UTR3;Gene=NM_001159353;GeneDetail=NM_001159353:c.*222C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369401.4,ENST00000354219.5,ENST00000256585.9,ENST00000530654.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61789690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.0821;1000g2015aug_all=0.135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 120378678 rs3009182 C T 2410.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=exonic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NBPF7:NM_001047980:exon7:c.G1068A:p.Q356Q;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3009182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.7118;1000g2015aug_all=0.628395;esp6500siv2_all=0.6907;ExAC_ALL=0.7508;ExAC_AFR=0.4449;ExAC_AMR=0.7527;ExAC_EAS=0.4558;ExAC_FIN=0.8238;ExAC_NFE=0.8003;ExAC_OTH=0.7911;ExAC_SAS=0.8532;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2439,231,0 1 120380008 rs3009184 T A 419.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.895764\x3bName\x3echr1:143601920;Repeat=.;avsnp150=rs3009184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.7118;1000g2015aug_all=0.625;esp6500siv2_all=0.6886;ExAC_ALL=0.7504;ExAC_AFR=0.4354;ExAC_AMR=0.7527;ExAC_EAS=0.4600;ExAC_FIN=0.8235;ExAC_NFE=0.8004;ExAC_OTH=0.7905;ExAC_SAS=0.8532;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:448,42,0 1 120382121 rs2226084 C T 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=.;avsnp150=rs2226084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.3926;1000g2015aug_amr=0.7104;1000g2015aug_all=0.623203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 120384205 rs2994820 A G 2199.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=1.875;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=exonic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NBPF7:NM_001047980:exon3:c.T357C:p.V119V;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=.;avsnp150=rs2994820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.7118;1000g2015aug_all=0.625;esp6500siv2_all=0.6762;ExAC_ALL=0.7496;ExAC_AFR=0.4393;ExAC_AMR=0.7530;ExAC_EAS=0.4575;ExAC_FIN=0.8236;ExAC_NFE=0.8007;ExAC_OTH=0.7914;ExAC_SAS=0.8530;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2228,195,0 1 120384682 rs3009187 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=.;avsnp150=rs3009187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.7594;1000g2015aug_all=0.77496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 120384777 rs2994821 G T 193.9 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=Score\x3e306\x3bName\x3e"244909:L1MB5(LINE)";avsnp150=rs2994821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.7118;1000g2015aug_all=0.625399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:15:222,15,0 1 120384785 rs2994822 C A 235.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=Score\x3e306\x3bName\x3e"244909:L1MB5(LINE)";avsnp150=rs2994822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.7118;1000g2015aug_all=0.6252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:264,18,0 1 120385316 rs137962637 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=intronic;Gene=NM_001047980;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=.;avsnp150=rs137962637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:75:75,0,108 1 120387376 rs2153676 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.18;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF7;Func=UTR5;Gene=NM_001047980;GeneDetail=NM_001047980:c.-218T>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.915146\x3bName\x3echr1:120801220;Repeat=.;avsnp150=rs2153676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.966;1000g2015aug_amr=0.7608;1000g2015aug_all=0.783347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 120396298 rs72697218 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001047980,NM_021794;GeneDetail=dist\x3e8795\x3bdist\x3e39858;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.924371\x3bName\x3echr1:146953508;Repeat=.;avsnp150=rs72697218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0101837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 120404614 rs3850866 T C 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.191;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.553;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001047980,NM_021794;GeneDetail=dist\x3e17111\x3bdist\x3e31542;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.934791\x3bName\x3echr1:149088798;Repeat=.;avsnp150=rs3850866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.5749;1000g2015aug_all=0.542332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:143,0,219 1 120428953 rs2453052 G C 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.431;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001047980,NM_021794;GeneDetail=dist\x3e41450\x3bdist\x3e7203;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2453052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.1239;1000g2015aug_all=0.0660942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:31:115,0,31 1 120436751 rs35273427 T C 285.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.245;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM30;Func=exonic;Gene=NM_021794;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAM30:NM_021794:exon1:c.A2209G:p.T737A;Gencode=Name\x3eENST00000369400.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"244994:(AGTTTT)n(Simple_repeat)";avsnp150=rs35273427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.0606;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.0865;1000g2015aug_all=0.162141;esp6500siv2_all=0.1320;ExAC_ALL=0.0930;ExAC_AFR=0.2934;ExAC_AMR=0.0685;ExAC_EAS=0.0222;ExAC_FIN=0.0528;ExAC_NFE=0.0573;ExAC_OTH=0.0872;ExAC_SAS=0.1824;SIFT_score=0.327;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.276;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=5.3;FATHMM_pred=T;phyloP100way_vertebrate=-2.174;phyloP20way_mammalian=-1.917;SiPhy_29way_logOdds=7.691;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:314,0,360 1 120437718 rs2793823 G A 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.289;DP=49;ExcessHet=3.0103;FS=1.079;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.787;SOR=0.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM30;Func=exonic;Gene=NM_021794;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAM30:NM_021794:exon1:c.C1242T:p.D414D;Gencode=Name\x3eENST00000369400.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2793823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.2133;1000g2015aug_all=0.330671;esp6500siv2_all=0.2823;ExAC_ALL=0.1970;ExAC_AFR=0.6163;ExAC_AMR=0.1910;ExAC_EAS=0.0943;ExAC_FIN=0.1848;ExAC_NFE=0.1229;ExAC_OTH=0.1932;ExAC_SAS=0.2953;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,26:48:99:740,0,537 1 120437884 rs2641348 A G 1034.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.379;DP=90;ExcessHet=3.0103;FS=4.063;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.186;SOR=0.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM30;Func=exonic;Gene=NM_021794;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAM30:NM_021794:exon1:c.T1076C:p.L359P;Gencode=Name\x3eENST00000369400.1;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2641348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.1196;1000g2015aug_all=0.195887;esp6500siv2_all=0.1789;ExAC_ALL=0.1316;ExAC_AFR=0.3411;ExAC_AMR=0.0859;ExAC_EAS=0.0280;ExAC_FIN=0.1512;ExAC_NFE=0.1012;ExAC_OTH=0.1256;ExAC_SAS=0.2015;SIFT_score=0.206;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.01;FATHMM_pred=T;phyloP100way_vertebrate=-2.244;phyloP20way_mammalian=-0.324;SiPhy_29way_logOdds=3.143;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,42:90:99:1063,0,1291 1 120458004 rs6685892 A T 2233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.469;DP=173;ExcessHet=3.0103;FS=2.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.821;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOTCH2;Func=exonic;Gene=NM_024408;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NOTCH2:NM_024408:exon34:c.T7341A:p.G2447G;Gencode=Name\x3eENST00000256646.6;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685892;cosmic70=.;CLNALLELEID=249377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.229;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.1182;1000g2015aug_all=0.192492;esp6500siv2_all=0.1785;ExAC_ALL=0.1293;ExAC_AFR=0.3428;ExAC_AMR=0.0850;ExAC_EAS=0.0281;ExAC_FIN=0.1395;ExAC_NFE=0.1014;ExAC_OTH=0.1242;ExAC_SAS=0.1881;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,80:173:99:2262,0,2657 1 120461253 rs2793829 C T 343.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.482;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.454;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOTCH2;Func=intronic;Gene=NM_024408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256646.6;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2793829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.1196;1000g2015aug_all=0.192292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,16:42:99:372,0,789 1 120463212 rs587717489 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.328;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOTCH2;Func=intronic;Gene=NM_024408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256646.6;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e215\x3bName\x3e"245032:L2b(LINE)";avsnp150=rs587717489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:83:146,0,83 1 120464165 rs835573 C T 259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.193;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.086;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOTCH2;Func=intronic;Gene=NM_024408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256646.6;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs835573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.1916;1000g2015aug_all=0.271366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:288,0,242 1 120466108 rs2793830 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.036;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOTCH2;Func=intronic;Gene=NM_024408;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256646.6;cytoBand=1p12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2793830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.8472;1000g2015aug_amr=0.2147;1000g2015aug_all=0.372804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 HG1292_PATCH 120706024 . A G 61.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.89;DP=17;ExcessHet=3.0103;FS=2.846;MLEAC=1;MLEAF=0.5;MQ=54.46;MQRankSum=-3.384;QD=3.63;ReadPosRankSum=-1.419;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC22B;Func=intronic;Gene=NM_004892;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000578049.3;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.991941\x3bName\x3echr1:148600078;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:90:90,0,378 HG1292_PATCH 120711552 rs879202775 T C 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.088;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=47.46;MQRankSum=-3.44;QD=7.44;ReadPosRankSum=2.92;SOR=1.229;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC22B;Func=exonic;Gene=NM_004892;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEC22B:NM_004892:exon2:c.A96G:p.Q32Q;Gencode=Name\x3eENST00000578049.3;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.991941\x3bName\x3echr1:148600078;Repeat=.;avsnp150=rs879202775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:125,0,173 HG1292_PATCH 120739667 . A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.551;DP=37;ExcessHet=3.0103;FS=7.903;MLEAC=1;MLEAF=0.5;MQ=44.05;MQRankSum=-5.223;QD=4.32;ReadPosRankSum=-3.455;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004892,NM_001037501;GeneDetail=dist\x3e20523\x3bdist\x3e217983;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.996667\x3bName\x3echr1:120575596;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,10:37:99:188,0,812 HG1292_PATCH 120740131 . T C 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.71;MQRankSum=-0.967;QD=4.82;ReadPosRankSum=-1.068;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004892,NM_001037501;GeneDetail=dist\x3e20987\x3bdist\x3e217519;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.996667\x3bName\x3echr1:120575596;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,176 HG1292_PATCH 120884668 rs141018108 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.39;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004892,NM_001037501;GeneDetail=dist\x3e165524\x3bdist\x3e72982;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p12;wgRna=.;genomicSuperDups=Score\x3e0.991183\x3bName\x3echr1:120907518;Repeat=.;avsnp150=rs141018108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 HG1292_PATCH 120979153 rs9441132 T G 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.232;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=41.66;MQRankSum=0.888;QD=17.12;ReadPosRankSum=-0.734;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=exonic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF8:NM_001037501:exon4:c.T8G:p.V3G;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.997796\x3bName\x3echr1:120442760;Repeat=.;avsnp150=rs9441132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:285,0,179 HG1292_PATCH 120979267 rs781975064 G A 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.388;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.71;MQRankSum=0.039;QD=8.17;ReadPosRankSum=0.633;SOR=0.861;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=exonic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF8:NM_001037501:exon4:c.G122A:p.R41K;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.997796\x3bName\x3echr1:120442760;Repeat=.;avsnp150=rs781975064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,15:33:99:298,0,450 HG1292_PATCH 120992011 rs587605093 G A 1443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.172;DP=56;ExcessHet=3.0103;FS=4.175;MLEAC=1;MLEAF=0.5;MQ=41.4;MQRankSum=3.805;QD=25.78;ReadPosRankSum=-0.147;SOR=0.286;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=exonic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF8:NM_001037501:exon9:c.G974A:p.R325Q;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=rs587605093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,37:56:99:1472,0,686 HG1292_PATCH 120992012 rs587681687 A G 1443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.939;DP=55;ExcessHet=3.0103;FS=4.223;MLEAC=1;MLEAF=0.5;MQ=41.32;MQRankSum=3.77;QD=26.25;ReadPosRankSum=0.044;SOR=0.264;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=exonic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NBPF8:NM_001037501:exon9:c.A975G:p.R325R;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=rs587681687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,36:55:99:1472,0,686 HG1292_PATCH 120992018 rs587738688 C G 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.853;DP=50;ExcessHet=3.0103;FS=4.547;MLEAC=1;MLEAF=0.5;MQ=41.29;MQRankSum=-4.19;QD=7.58;ReadPosRankSum=-0.338;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=exonic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF8:NM_001037501:exon9:c.C981G:p.N327K;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=rs587738688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,17:50:99:407,0,1335 HG1292_PATCH 120992036 rs28458244 C T 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.682;DP=42;ExcessHet=3.0103;FS=6.32;MLEAC=1;MLEAF=0.5;MQ=42.02;MQRankSum=-4.242;QD=6.26;ReadPosRankSum=0.181;SOR=2.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=intronic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=rs28458244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,12:42:99:291,0,837 HG1292_PATCH 120996170 rs587648932 T C 952.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.33;QD=30.73;SOR=2.376;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=intronic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=rs587648932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:981,93,0 HG1292_PATCH 121002363 . C T 58.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.53;MQRankSum=-0.992;QD=7.35;ReadPosRankSum=-0.703;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=intronic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98411\x3bName\x3echr1:144420966;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:87:87,0,185 HG1292_PATCH 121006944 . T C 316.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.75;QD=28.8;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=intronic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:345,33,0 HG1292_PATCH 121006989 . C T 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.136;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.48;MQRankSum=1.279;QD=15.49;ReadPosRankSum=2.021;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF8;Func=intronic;Gene=NM_001037501;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,13:18:87:307,0,87 HG1292_PATCH 121032419 rs113954821 T G 1304.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.17;QD=31.82;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=rs113954821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1333,123,0 HG1292_PATCH 121034604 rs147331822 A G 1158.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.88;QD=32.19;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=rs147331822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1187,108,0 HG1292_PATCH 121034648 . T G 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.147;DP=35;ExcessHet=3.0103;FS=7.396;MLEAC=1;MLEAF=0.5;MQ=57.77;MQRankSum=2.204;QD=14.02;ReadPosRankSum=-1.475;SOR=1.535;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:519,0,361 HG1292_PATCH 121048658 . T C 181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.68;MQRankSum=0.019;QD=15.15;ReadPosRankSum=0.006;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:210,0,127 HG1292_PATCH 121052241 . C T 308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.928;DP=33;ExcessHet=3.0103;FS=1.404;MLEAC=1;MLEAF=0.5;MQ=55.27;MQRankSum=-0.294;QD=9.65;ReadPosRankSum=0.37;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_144516;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,12:32:99:337,0,559 HG1292_PATCH 121054223 . A G 679.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.668;DP=57;ExcessHet=3.0103;FS=14.292;MLEAC=1;MLEAF=0.5;MQ=59.9;MQRankSum=-1.774;QD=11.93;ReadPosRankSum=-3.19;SOR=3.121;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,22:57:99:708,0,1015 HG1292_PATCH 121054990 . T C 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.663;DP=27;ExcessHet=3.0103;FS=3.174;MLEAC=1;MLEAF=0.5;MQ=49.1;MQRankSum=-4.575;QD=14.07;ReadPosRankSum=-0.461;SOR=0.091;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:148990186;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:408,0,426 HG1292_PATCH 121100519 . T A 178.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.789;DP=84;ExcessHet=3.0103;FS=28.265;MLEAC=1;MLEAF=0.5;MQ=45.41;MQRankSum=-2.914;QD=2.13;ReadPosRankSum=0.309;SOR=2.792;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.993276\x3bName\x3echr1:148804200;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,13:84:99:207,0,1985 HG1292_PATCH 121182475 . A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.01;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_144516,NR_144517;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.996667\x3bName\x3echr1:120192772;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 HG1292_PATCH 121266439 . G A 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.59;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_144516,NM_001351372;GeneDetail=dist\x3e58380\x3bdist\x3e81740;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.994607\x3bName\x3echr1:119990473;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 HG1292_PATCH 121266579 . C G 662.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.9;QD=31.56;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_144516,NM_001351372;GeneDetail=dist\x3e58520\x3bdist\x3e81600;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624419.1;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.994607\x3bName\x3echr1:119990473;Repeat=Score\x3e16\x3bName\x3e"246508:(CGG)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:691,63,0 HG1292_PATCH 121266775 . A C 582.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.45;QD=30.67;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_144516,NM_001351372;GeneDetail=dist\x3e58716\x3bdist\x3e81404;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624419.1;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.994607\x3bName\x3echr1:119990473;Repeat=Score\x3e23\x3bName\x3e"246509:(GGC)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,18:19:33:607,33,0 HG1292_PATCH 121336071 . A T 5684.77 PASS AC=2;AF=1;AN=2;DP=167;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.03;QD=34.04;SOR=1.199;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_144516,NM_001351372;GeneDetail=dist\x3e128012\x3bdist\x3e12108;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624419.1;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.994607\x3bName\x3echr1:119990473;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.987;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.985;MutationTaster_pred=N;MutationAssessor_score=1.315;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=9.241;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=9.174;gerp++gt2=2.87;CADD=3.920;CADD_Phred=23.5;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,167:167:99:5713,502,0 HG1292_PATCH 121348277 . G C 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=19;ExcessHet=3.0103;FS=4.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.986;SOR=0.971;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF26:NM_001351372:exon1:c.G64C:p.E22Q;Gencode=Name\x3eENST00000617913.4,ENST00000615145.4,ENST00000619748.4,ENST00000615219.4,ENST00000611702.4,ENST00000620612.4,ENST00000611287.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.881;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.438;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.855;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.762;phyloP20way_mammalian=-1.473;SiPhy_29way_logOdds=6.662;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:209,0,266 HG1292_PATCH 121351043 rs587715150 A C 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.24;MQRankSum=-2;QD=5.9;ReadPosRankSum=-0.441;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615145.4,ENST00000617913.4,ENST00000620612.4,ENST00000611287.4,ENST00000615219.4,ENST00000619748.4,ENST00000611702.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=rs587715150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:99,0,672 HG1292_PATCH 121351046 . G A 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.24;MQRankSum=-2;QD=5.9;ReadPosRankSum=-0.086;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611287.4,ENST00000620612.4,ENST00000611702.4,ENST00000619748.4,ENST00000615219.4,ENST00000615145.4,ENST00000617913.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:99,0,672 HG1292_PATCH 121352476 . A C 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.368;DP=88;ExcessHet=3.0103;FS=9.102;MLEAC=1;MLEAF=0.5;MQ=46.8;MQRankSum=-5.534;QD=2.37;ReadPosRankSum=-1.32;SOR=1.967;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF26:NM_001351372:exon4:c.A536C:p.D179A;Gencode=Name\x3eENST00000619748.4,ENST00000615219.4,ENST00000611702.4,ENST00000611287.4,ENST00000620612.4,ENST00000617913.4,ENST00000615145.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=Score\x3e12\x3bName\x3e"246644:(GATGAG)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.847;phyloP20way_mammalian=-3.702;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,12:88:99:237,0,9052 HG1292_PATCH 121352486 rs782001396 A G 184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3;DP=83;ExcessHet=3.0103;FS=10.443;MLEAC=1;MLEAF=0.5;MQ=47.31;MQRankSum=-5.085;QD=2.23;ReadPosRankSum=-0.777;SOR=2.288;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NBPF26:NM_001351372:exon4:c.A546G:p.V182V;Gencode=Name\x3eENST00000619748.4,ENST00000615219.4,ENST00000611702.4,ENST00000620612.4,ENST00000611287.4,ENST00000617913.4,ENST00000615145.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=rs782001396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,10:83:99:213,0,9113 HG1292_PATCH 121352490 . G A 168.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.819;DP=82;ExcessHet=3.0103;FS=10.517;MLEAC=1;MLEAF=0.5;MQ=47.76;MQRankSum=-5.09;QD=2.06;ReadPosRankSum=-0.836;SOR=2.283;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF26:NM_001351372:exon4:c.G550A:p.E184K;Gencode=Name\x3eENST00000611287.4,ENST00000620612.4,ENST00000615219.4,ENST00000619748.4,ENST00000611702.4,ENST00000615145.4,ENST00000617913.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.495;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.328;phyloP20way_mammalian=0.503;SiPhy_29way_logOdds=3.416;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,10:82:99:197,0,9048 HG1292_PATCH 121352631 . T A 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.136;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.05;MQRankSum=-4.378;QD=12.05;ReadPosRankSum=0.757;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620612.4,ENST00000611287.4,ENST00000619748.4,ENST00000611702.4,ENST00000615219.4,ENST00000615145.4,ENST00000617913.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:438,0,1516 HG1292_PATCH 121352632 . C T 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.136;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.05;MQRankSum=-4.378;QD=12.05;ReadPosRankSum=0.829;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617913.4,ENST00000615145.4,ENST00000619748.4,ENST00000611702.4,ENST00000615219.4,ENST00000620612.4,ENST00000611287.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:438,0,1516 HG1292_PATCH 121352853 rs28616839 G A 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.52;MQRankSum=-1.611;QD=7.47;ReadPosRankSum=-2.369;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615219.4,ENST00000619748.4,ENST00000611702.4,ENST00000611287.4,ENST00000620612.4,ENST00000617913.4,ENST00000615145.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.990403\x3bName\x3echr1:149372304;Repeat=.;avsnp150=rs28616839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:88:88,0,185 HG1292_PATCH 121357413 . C T 828.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.005;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.54;MQRankSum=-0.42;QD=13.81;ReadPosRankSum=0.007;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619748.4,ENST00000615219.4,ENST00000611702.4,ENST00000620612.4,ENST00000611287.4,ENST00000609741.2,ENST00000617913.4,ENST00000615145.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.987431\x3bName\x3echr1:146112447;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.0327;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.013;1000g2015aug_all=0.0215655;esp6500siv2_all=.;ExAC_ALL=0.0013;ExAC_AFR=0.0023;ExAC_AMR=0.0008;ExAC_EAS=0.0071;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0.0058;ExAC_SAS=0.0018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,33:60:99:857,0,574 HG1292_PATCH 121367885 . T A 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.84;QD=31.09;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620612.4,ENST00000611287.4,ENST00000609741.2,ENST00000615219.4,ENST00000619748.4,ENST00000611702.4,ENST00000615145.4,ENST00000617913.4;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.987431\x3bName\x3echr1:146112447;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 HG1292_PATCH 121375279 . C T 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50;MQRankSum=0.524;QD=8.15;ReadPosRankSum=1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617913.4,ENST00000615145.4,ENST00000611702.4,ENST00000619748.4,ENST00000615219.4,ENST00000611287.4,ENST00000620612.4,ENST00000609741.2;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.987431\x3bName\x3echr1:146112447;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 HG1292_PATCH 121382865 rs77928787 A T 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.469;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.84;MQRankSum=-1.133;QD=17.16;ReadPosRankSum=1.809;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001351372;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617913.4,ENST00000615145.4,ENST00000615219.4,ENST00000619748.4,ENST00000611702.4,ENST00000611287.4,ENST00000620612.4,ENST00000609741.2;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.984625\x3bName\x3echr1:144356497;Repeat=.;avsnp150=rs77928787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:320,0,241 HG1292_PATCH 121383324 rs61810197 T G 797.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.42;QD=31.92;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=UTR3;Gene=NM_001351372;GeneDetail=NM_001351372:c.*108T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609741.2;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.984625\x3bName\x3echr1:144356497;Repeat=.;avsnp150=rs61810197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:826,63,0 HG1292_PATCH 121432410 . C T 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.133;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.37;MQRankSum=0.887;QD=6.61;ReadPosRankSum=-1.289;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPIAL4A;Func=UTR5;Gene=NM_001143883;GeneDetail=NM_001143883:c.-34C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000577856.2;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.98578\x3bName\x3echr1:149563348;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,17:59:99:418,0,1278 HG1292_PATCH 121450255 rs878936291 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.03;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001143883,NR_024584;GeneDetail=dist\x3e17102\x3bdist\x3e4606;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.991183\x3bName\x3echr1:120323082;Repeat=Score\x3e2089\x3bName\x3e"246795:AluSz6(SINE)";avsnp150=rs878936291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1292_PATCH 121450256 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.03;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001143883,NR_024584;GeneDetail=dist\x3e17103\x3bdist\x3e4605;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1p11.2;wgRna=.;genomicSuperDups=Score\x3e0.991183\x3bName\x3echr1:120323082;Repeat=Score\x3e2089\x3bName\x3e"246795:AluSz6(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143925960 . T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e160426;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.97945\x3bName\x3echr1:143214918;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143925963 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e160423;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.97945\x3bName\x3echr1:143214918;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143951079 . G C 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.82;MQRankSum=0;QD=14.96;ReadPosRankSum=1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e135307;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.963855\x3bName\x3echr1:143206152;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:72:118,0,72 HG1287_PATCH 143952847 . G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.52;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e133539;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.962449\x3bName\x3echr1:143218740;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143952848 rs879223565 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.52;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e133538;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.962449\x3bName\x3echr1:143218740;Repeat=.;avsnp150=rs879223565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143971930 . C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.57;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e114456;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.991858\x3bName\x3echr1:143503850;Repeat=Score\x3e1205\x3bName\x3e"248332:MER54A(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143971936 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.57;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e114450;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.991858\x3bName\x3echr1:143503850;Repeat=Score\x3e1205\x3bName\x3e"248332:MER54A(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 143971958 . G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.57;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NR_027354;GeneDetail=dist\x3eNONE\x3bdist\x3e114428;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.991858\x3bName\x3echr1:143503850;Repeat=Score\x3e1205\x3bName\x3e"248332:MER54A(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 HG1287_PATCH 145591371 . T A 140.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.418;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.12;MQRankSum=-4.098;QD=5.21;ReadPosRankSum=-0.398;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSRGAP2-AS1,SRGAP2B;Func=ncRNA_intronic;Gene=NR_104189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441760.2,ENST00000619678.1,ENST00000612199.4;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.996291\x3bName\x3echr1:144044798;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,8:27:99:169,0,634 HG1287_PATCH 146091408 . C G 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.468;DP=24;ExcessHet=3.0103;FS=2.644;MLEAC=1;MLEAF=0.5;MQ=58.83;MQRankSum=-3.462;QD=8.7;ReadPosRankSum=-1.103;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620821.1,ENST00000369373.9,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,5:24:99:237,0,3857 HG1287_PATCH 146091414 . C T 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.369;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.96;MQRankSum=-2.724;QD=10.84;ReadPosRankSum=-2.179;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620821.1,ENST00000369373.9,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,8:27:99:321,0,3851 HG1287_PATCH 146091415 . A G 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.369;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.96;MQRankSum=-2.724;QD=10.84;ReadPosRankSum=-2.152;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369373.9,ENST00000620821.1,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,8:27:99:321,0,3851 HG1287_PATCH 146091416 . A G 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.534;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59;MQRankSum=-2.565;QD=10.35;ReadPosRankSum=-2.436;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392971.6,ENST00000369373.9,ENST00000620821.1;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,9:28:99:318,0,3897 HG1287_PATCH 146091418 . A G 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.111;DP=29;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=59.03;MQRankSum=-2.63;QD=11.96;ReadPosRankSum=-2.029;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392971.6,ENST00000369373.9,ENST00000620821.1;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,9:29:99:375,0,3930 HG1287_PATCH 146091426 . A C 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.519;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.72;MQRankSum=-2.801;QD=11.26;ReadPosRankSum=-1.569;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=intronic;Gene=NM_001278267;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369373.9,ENST00000620821.1,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:411,0,3866 HG1287_PATCH 146091582 . C T 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.144;DP=55;ExcessHet=3.0103;FS=3.822;MLEAC=1;MLEAF=0.5;MQ=51.25;MQRankSum=-4.864;QD=9.1;ReadPosRankSum=-1.75;SOR=0.703;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=UTR5;Gene=NM_001278267;GeneDetail=NM_001278267:c.-11438G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392971.6,ENST00000620821.1,ENST00000369373.9;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-2.938;phyloP20way_mammalian=-2.263;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,20:55:99:529,0,1011 HG1287_PATCH 146091595 rs868978406 G C 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.215;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.9;MQRankSum=-4.588;QD=6.91;ReadPosRankSum=-1.649;SOR=0.7;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=UTR5;Gene=NM_001278267;GeneDetail=NM_001278267:c.-11451C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620821.1,ENST00000369373.9,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=rs868978406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.570;phyloP20way_mammalian=-2.461;SiPhy_29way_logOdds=7.502;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,15:49:99:367,0,975 HG1287_PATCH 146091606 . A G 213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.383;DP=42;ExcessHet=3.0103;FS=6.379;MLEAC=1;MLEAF=0.5;MQ=49.45;MQRankSum=-3.876;QD=5.09;ReadPosRankSum=-0.736;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=UTR5;Gene=NM_001278267;GeneDetail=NM_001278267:c.-11462T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369373.9,ENST00000620821.1,ENST00000392971.6;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,9:42:99:242,0,1858 HG1287_PATCH 146091614 . C T 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.945;DP=39;ExcessHet=3.0103;FS=11.108;MLEAC=1;MLEAF=0.5;MQ=50.16;MQRankSum=-3.282;QD=4.28;ReadPosRankSum=-0.421;SOR=3.24;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=UTR5;Gene=NM_001278267;GeneDetail=NM_001278267:c.-11470G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392971.6,ENST00000369373.9,ENST00000620821.1;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.480;phyloP20way_mammalian=-0.779;SiPhy_29way_logOdds=4.08;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,7:39:99:195,0,1864 HG1287_PATCH 146091625 . G A 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.172;DP=35;ExcessHet=3.0103;FS=8.352;MLEAC=1;MLEAF=0.5;MQ=48.32;MQRankSum=-2.7;QD=3.31;ReadPosRankSum=-1.204;SOR=3.023;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF20;Func=UTR5;Gene=NM_001278267;GeneDetail=NM_001278267:c.-11481C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392971.6,ENST00000620821.1,ENST00000369373.9;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.985374\x3bName\x3echr1:149475332;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,6:35:99:144,0,853 HG1287_PATCH 146205017 . G T 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.374;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=50.89;MQRankSum=-0.979;QD=19.21;ReadPosRankSum=2.034;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001278267,NR_104217;GeneDetail=dist\x3e112824\x3bdist\x3e53743;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.992374\x3bName\x3echr1:148013869;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:278,0,86 HG1287_PATCH 146205091 . G A 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=40.92;MQRankSum=-1.292;QD=26.47;ReadPosRankSum=-0.703;SOR=1.901;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001278267,NR_104217;GeneDetail=dist\x3e112898\x3bdist\x3e53669;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.992374\x3bName\x3echr1:148013869;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:240,0,108 HG1287_PATCH 146205095 . T G 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=7.202;MLEAC=1;MLEAF=0.5;MQ=41.83;MQRankSum=-1.718;QD=20.88;ReadPosRankSum=-0.411;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001278267,NR_104217;GeneDetail=dist\x3e112902\x3bdist\x3e53665;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.992374\x3bName\x3echr1:148013869;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:237,0,147 HG1287_PATCH 146263804 . T G 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.327;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.28;MQRankSum=-2.258;QD=7.9;ReadPosRankSum=-1.01;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF25P;Func=ncRNA_exonic;Gene=NR_104217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.97683\x3bName\x3echr1:149471558;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:297,0,544 HG1287_PATCH 146274485 rs71186758 A G 424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.894;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.9;MQRankSum=-3.427;QD=18.47;ReadPosRankSum=-1.37;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF25P;Func=ncRNA_exonic;Gene=NR_104217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.97683\x3bName\x3echr1:149471558;Repeat=.;avsnp150=rs71186758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,16:23:99:453,0,189 HG1287_PATCH 147164834 rs75800805 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.15;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_004400,NR_103556;GeneDetail=dist\x3e101449\x3bdist\x3e7913;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.996118\x3bName\x3echr1:148191940;Repeat=.;avsnp150=rs75800805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 HG1287_PATCH 147264496 rs879956143 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.72;MQRankSum=-1.96;QD=7.29;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYDIN2;Func=ncRNA_intronic;Gene=NR_103556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=rs879956143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:72:72,0,75 HG1287_PATCH 147267584 . A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=51.2;MQRankSum=-2.638;QD=3.68;ReadPosRankSum=-0.33;SOR=2.812;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYDIN2;Func=ncRNA_exonic;Gene=NR_103556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:65:65,0,228 HG1287_PATCH 147332316 . C G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.83;MQRankSum=0.431;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYDIN2;Func=ncRNA_intronic;Gene=NR_103556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 HG1287_PATCH 147422550 . C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.26;MQRankSum=-0.319;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYDIN2;Func=ncRNA_intronic;Gene=NR_103556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 HG1287_PATCH 147457923 . C T 2296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.418;DP=171;ExcessHet=3.0103;FS=3.512;MLEAC=1;MLEAF=0.5;MQ=59.03;MQRankSum=-0.646;QD=13.43;ReadPosRankSum=-0.178;SOR=0.972;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHYDIN2;Func=ncRNA_intronic;Gene=NR_103556;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,87:171:99:2325,0,2175 HG1287_PATCH 147541664 . C G 1087.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.78;QD=34.34;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_103556,NM_001278141;GeneDetail=dist\x3e33215\x3bdist\x3e83296;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.1;wgRna=.;genomicSuperDups=Score\x3e0.993476\x3bName\x3echr16:70811383;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1116,93,0 HG1287_PATCH 149220990 . C T 161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.229;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=59.79;MQRankSum=-0.566;QD=11.55;ReadPosRankSum=-0.374;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF14;Func=intronic;Gene=NM_015383;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000581201.5,ENST00000614999.4,ENST00000621070.4,ENST00000620240.1,ENST00000616120.4,ENST00000611826.4,ENST00000614329.4,ENST00000621066.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.996949\x3bName\x3echr1:146081966;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:190,0,163 HG1287_PATCH 149245628 . G A 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.31;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF14;Func=intronic;Gene=NM_015383;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000581201.5,ENST00000614999.4,ENST00000621070.4,ENST00000621066.4,ENST00000616120.4,ENST00000611826.4,ENST00000614329.4,ENST00000620240.1;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.996949\x3bName\x3echr1:146081966;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 HG1287_PATCH 149246376 . T C 1067.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.27;QD=27.72;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF14;Func=exonic;Gene=NM_015383;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF14:NM_015383:exon32:c.A4054G:p.S1352G;Gencode=Name\x3eENST00000621070.4,ENST00000611826.4,ENST00000616120.4,ENST00000614329.4,ENST00000621066.4,ENST00000620240.1,ENST00000581201.5,ENST00000614999.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.996949\x3bName\x3echr1:146081966;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.082;phyloP20way_mammalian=0.161;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1096,75,0 HG1287_PATCH 149246377 . G T 1067.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.27;QD=31.35;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF14;Func=exonic;Gene=NM_015383;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NBPF14:NM_015383:exon32:c.C4053A:p.L1351L;Gencode=Name\x3eENST00000614999.4,ENST00000581201.5,ENST00000620240.1,ENST00000614329.4,ENST00000611826.4,ENST00000616120.4,ENST00000621066.4,ENST00000621070.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.996949\x3bName\x3echr1:146081966;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1096,75,0 HG1287_PATCH 149280017 rs71231122 G A 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.579;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.99;MQRankSum=2.88;QD=24.55;ReadPosRankSum=-0.849;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF14;Func=exonic;Gene=NM_015383;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NBPF14:NM_015383:exon2:c.C274T:p.L92F;Gencode=Name\x3eENST00000621070.4,ENST00000620240.1,ENST00000614329.4,ENST00000616120.4,ENST00000611826.4,ENST00000621066.4,ENST00000581201.5,ENST00000614999.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.996949\x3bName\x3echr1:146081966;Repeat=.;avsnp150=rs71231122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.379;phyloP20way_mammalian=0.292;SiPhy_29way_logOdds=5.819;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,24:27:54:691,0,54 HG1287_PATCH 149741998 . C G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.445;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.78;MQRankSum=-4.749;QD=10.81;ReadPosRankSum=0.766;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF9;Func=UTR3;Gene=NM_001037675,NM_001277444;GeneDetail=NM_001037675:c.*73G>C\x3bNM_001277444:c.*73G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613595.4,ENST00000584027.8,ENST00000621074.4,ENST00000615421.4,ENST00000621645.4,ENST00000613969.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:120460759;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,12:28:99:331,0,516 HG1287_PATCH 149742010 rs879197794 A T 398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.354;DP=34;ExcessHet=3.0103;FS=1.725;MLEAC=1;MLEAF=0.5;MQ=51.38;MQRankSum=-5.344;QD=11.73;ReadPosRankSum=0.382;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF9;Func=UTR3;Gene=NM_001037675,NM_001277444;GeneDetail=NM_001037675:c.*61T>A\x3bNM_001277444:c.*61T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613969.4,ENST00000621645.4,ENST00000615421.4,ENST00000621074.4,ENST00000584027.8,ENST00000613595.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:120460759;Repeat=.;avsnp150=rs879197794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:427,0,623 HG1287_PATCH 149742401 . G C 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.335;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.5;MQRankSum=0.023;QD=21.06;ReadPosRankSum=-0.655;SOR=0.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF9;Func=intronic;Gene=NM_001037675,NM_001277444;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610300.4,ENST00000613969.4,ENST00000621645.4,ENST00000483630.5,ENST00000615421.4,ENST00000621074.4,ENST00000613595.4,ENST00000584027.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.98869\x3bName\x3echr1:120460759;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,21:31:99:681,0,266 HG1287_PATCH 149748456 . T C 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.69;MQRankSum=-2.369;QD=17.47;ReadPosRankSum=-0.566;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF9;Func=intronic;Gene=NM_001037675,NM_001277444;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615421.4,ENST00000483630.5,ENST00000610300.4,ENST00000613969.4,ENST00000621645.4,ENST00000613595.4,ENST00000584027.8,ENST00000621074.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.9858\x3bName\x3echr1:149056105;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:168,0,101 HG1287_PATCH 149800211 . C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001277444,NM_001351365;GeneDetail=dist\x3e31485\x3bdist\x3e362102;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.2;wgRna=.;genomicSuperDups=Score\x3e0.99067\x3bName\x3echr1:146402393;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 150443707 rs200404582 C T 1682.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.303;DP=154;ExcessHet=3.0103;FS=1.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.396;SOR=0.848;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPRD2;Func=exonic;Gene=NM_001297673,NM_001297674,NM_015203;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RPRD2:NM_001297673:exon10:c.C2205T:p.S735S,RPRD2:NM_001297674:exon10:c.C2205T:p.S735S,RPRD2:NM_015203:exon11:c.C2283T:p.S761S;Gencode=Name\x3eENST00000401000.8,ENST00000369068.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200404582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000798722;esp6500siv2_all=0.0029;ExAC_ALL=0.0022;ExAC_AFR=0.0002;ExAC_AMR=0.0018;ExAC_EAS=0;ExAC_FIN=0.0014;ExAC_NFE=0.0034;ExAC_OTH=0.0033;ExAC_SAS=0.0002;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:92,62:154:99:1711,0,2743 1 150459715 rs34001546 T C 390.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.969;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-1.489;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34001546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.2723;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:419,0,529 1 150460168 rs2275246 A G 54.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.897;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=-1.403;SOR=1.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438568.6,ENST00000606933.5,ENST00000369054.6,ENST00000369064.7;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.5;1000g2015aug_all=0.508387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,3:14:83:83,0,379 1 150463526 rs12145082 T C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369064.7,ENST00000369054.6,ENST00000438568.6,ENST00000606933.5;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e955\x3bName\x3e"262107:AluJb(SINE)";avsnp150=rs12145082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.1167;1000g2015aug_all=0.163339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:78,0,33 1 150463772 rs7542068 C G 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.641;DP=31;ExcessHet=3.0103;FS=1.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.675;SOR=0.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438568.6,ENST00000606933.5,ENST00000369054.6,ENST00000369064.7;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.1167;1000g2015aug_all=0.163139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:423,0,503 1 150468842 rs1343965 A G 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.165;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.572;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438568.6,ENST00000606933.5,ENST00000369054.6,ENST00000369064.7;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1343965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.1153;1000g2015aug_all=0.162939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:326,0,251 1 150469480 rs12119249 C T 655.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.27;DP=55;ExcessHet=3.0103;FS=3.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.052;SOR=0.277;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369054.6,ENST00000369064.7,ENST00000438568.6,ENST00000606933.5;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2052\x3bName\x3e"262123:AluSx3(SINE)";avsnp150=rs12119249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.111;1000g2015aug_all=0.171925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,23:54:99:684,0,991 1 150470296 rs11588874 G A 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.27;DP=20;ExcessHet=3.0103;FS=6.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.076;SOR=3.033;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438568.6,ENST00000606933.5,ENST00000369064.7,ENST00000369054.6;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2463\x3bName\x3e"262124:AluSx1(SINE)";avsnp150=rs11588874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.1153;1000g2015aug_all=0.162939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:304,0,297 1 150471156 rs34542152 C T 1201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.717;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-1.373;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438568.6,ENST00000606933.5,ENST00000369054.6,ENST00000369064.7;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34542152;cosmic70=.;CLNALLELEID=364467;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0457;1000g2015aug_afr=0.09;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0405351;esp6500siv2_all=0.0674;ExAC_ALL=0.0527;ExAC_AFR=0.0812;ExAC_AMR=0.0199;ExAC_EAS=0.0001;ExAC_FIN=0.0593;ExAC_NFE=0.0683;ExAC_OTH=0.0353;ExAC_SAS=0.0215;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,50:83:99:1230,0,857 1 150476707 rs75108820 G A 530.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.537;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.652;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARS2;Func=intronic;Gene=NM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369064.7,ENST00000369054.6,ENST00000606933.5,ENST00000438568.6;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e206\x3bName\x3e"262142:L2(LINE)";avsnp150=rs75108820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,19:44:99:559,0,810 1 150480373 rs3754217 G T 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=-0.366;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001202858,NM_004425,NM_022664\x3bNM_001271895,NM_001271896,NM_025150;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.5014;1000g2015aug_all=0.502596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:63:63,0,156 1 150480571 rs12724450 G A 1692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.828;DP=138;ExcessHet=3.0103;FS=4.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.672;SOR=1.145;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=UTR5;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=NM_001202858:c.-115G>A\x3bNM_004425:c.-115G>A\x3bNM_022664:c.-115G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369049.8,ENST00000369047.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12724450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,62:138:99:1721,0,1999 1 150483236 rs9661040 A C 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.684;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.247;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=intronic;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369049.8,ENST00000346569.6,ENST00000369047.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7126;1000g2015aug_amr=0.5014;1000g2015aug_all=0.505791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:192,0,216 1 150483840 rs4970979 C T 1205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.285;DP=67;ExcessHet=3.0103;FS=8.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-1.482;SOR=1.499;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=intronic;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369049.8,ENST00000346569.6,ENST00000369047.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4970979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.4856;1000g2015aug_all=0.466254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,36:66:99:1234,0,940 1 150484004 rs11801190 G A 1324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.698;DP=109;ExcessHet=3.0103;FS=0.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.092;SOR=0.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=exonic;Gene=NM_001202858,NM_004425;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ECM1:NM_001202858:exon7:c.G861A:p.T287T,ECM1:NM_004425:exon7:c.G780A:p.T260T;Gencode=Name\x3eENST00000369047.8,ENST00000346569.6,ENST00000369049.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11801190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0994409;esp6500siv2_all=0.1342;ExAC_ALL=0.0849;ExAC_AFR=0.2302;ExAC_AMR=0.0303;ExAC_EAS=0.0001;ExAC_FIN=0.0972;ExAC_NFE=0.0956;ExAC_OTH=0.0552;ExAC_SAS=0.0301;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,57:109:99:1353,0,1368 1 150485531 rs945715 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=intronic;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346569.6,ENST00000369047.8,ENST00000369049.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9297;1000g2015aug_amr=0.9971;1000g2015aug_all=0.980631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 150485566 rs12031973 T G 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.109;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.128;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=intronic;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000346569.6,ENST00000369047.8,ENST00000369049.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12031973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.5029;1000g2015aug_all=0.506989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:250,0,182 1 150485571 rs12031974 T C 510.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eECM1;Func=intronic;Gene=NM_001202858,NM_004425,NM_022664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369047.8,ENST00000346569.6,ENST00000369049.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12031974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=1;1000g2015aug_all=0.999401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:539,42,0 1 150526044 rs41317515 G C 5391.77 PASS AC=2;AF=1;AN=2;DP=161;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=0.895;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=exonic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P;Gencode=Name\x3eENST00000442435.3,ENST00000369038.6,ENST00000271643.8,ENST00000369039.9,ENST00000369041.9;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41317515;cosmic70=.;CLNALLELEID=249387;CLNDN=Ectopia_lentis|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.4337;1000g2015aug_all=0.528355;esp6500siv2_all=0.5471;ExAC_ALL=0.5231;ExAC_AFR=0.5974;ExAC_AMR=0.5111;ExAC_EAS=0.5486;ExAC_FIN=0.6540;ExAC_NFE=0.5257;ExAC_OTH=0.5088;ExAC_SAS=0.4090;SIFT_score=0.703;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=0.23;FATHMM_pred=T;phyloP100way_vertebrate=-1.171;phyloP20way_mammalian=-1.198;SiPhy_29way_logOdds=3.170;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,161:161:99:5420,483,0 1 150526406 rs6681639 C T 1448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.263;DP=105;ExcessHet=3.0103;FS=3.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.07;SOR=1.13;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=exonic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAMTSL4:NM_001288607:exon6:c.C939T:p.G313G,ADAMTSL4:NM_001288608:exon6:c.C939T:p.G313G,ADAMTSL4:NM_019032:exon6:c.C939T:p.G313G,ADAMTSL4:NM_025008:exon6:c.C939T:p.G313G;Gencode=Name\x3eENST00000369041.9,ENST00000271643.8,ENST00000369039.9,ENST00000442435.3,ENST00000369038.6;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6681639;cosmic70=.;CLNALLELEID=249388;CLNDN=Ectopia_lentis|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.5832;1000g2015aug_amr=0.2666;1000g2015aug_all=0.347244;esp6500siv2_all=0.3554;ExAC_ALL=0.3038;ExAC_AFR=0.5541;ExAC_AMR=0.3656;ExAC_EAS=0.3056;ExAC_FIN=0.3297;ExAC_NFE=0.2796;ExAC_OTH=0.3120;ExAC_SAS=0.2020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,47:105:99:1477,0,1783 1 150528208 rs9728540 C T 367.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=intronic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442435.3,ENST00000622417.4,ENST00000369038.6,ENST00000369041.9,ENST00000271643.8,ENST00000369039.9;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9728540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.4222;1000g2015aug_all=0.525559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:32:396,32,0 1 150530274 rs375427068 C A 640.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.629;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.67;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=intronic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000369038.6,ENST00000622417.4,ENST00000369041.9,ENST00000369039.9,ENST00000271643.8;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs375427068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1054;1000g2015aug_afr=0.003;1000g2015aug_amr=0.1138;1000g2015aug_all=0.120208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,17:31:99:669,0,1940 1 150531008 rs10888382 T C 1184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.973;DP=123;ExcessHet=3.0103;FS=1.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.546;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=exonic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N;Gencode=Name\x3eENST00000369041.9,ENST00000271643.8,ENST00000369039.9,ENST00000369038.6,ENST00000622417.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888382;cosmic70=.;CLNALLELEID=249390;CLNDN=Ectopia_lentis|Ectopia_lentis_et_pupillae|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C1644196,OMIM:225200,SNOMED_CT:419237004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.9049;1000g2015aug_all=0.814497;esp6500siv2_all=0.8675;ExAC_ALL=0.9067;ExAC_AFR=0.6932;ExAC_AMR=0.9114;ExAC_EAS=0.8448;ExAC_FIN=0.9779;ExAC_NFE=0.9479;ExAC_OTH=0.9283;ExAC_SAS=0.8743;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,46:123:99:1213,0,2007 1 150531050 rs10749657 G A 4503.77 PASS AC=2;AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=exonic;Gene=NM_001288607,NM_001288608,NM_019032,NM_025008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P;Gencode=Name\x3eENST00000271643.8,ENST00000369039.9,ENST00000369041.9,ENST00000369038.6,ENST00000622417.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10749657;cosmic70=.;CLNALLELEID=249391;CLNDN=Ectopia_lentis|Ectopia_lentis_et_pupillae|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C1644196,OMIM:225200,SNOMED_CT:419237004|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.839;1000g2015aug_afr=0.829;1000g2015aug_amr=0.8444;1000g2015aug_all=0.878395;esp6500siv2_all=0.8435;ExAC_ALL=0.8676;ExAC_AFR=0.8374;ExAC_AMR=0.8824;ExAC_EAS=0.9745;ExAC_FIN=0.8780;ExAC_NFE=0.8452;ExAC_OTH=0.8786;ExAC_SAS=0.9056;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,141:141:99:4532,422,0 1 150531170 rs10749658 C T 4252.77 PASS AC=2;AF=1;AN=2;DP=137;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=exonic;Gene=NM_025008;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H;Gencode=Name\x3eENST00000369039.9,ENST00000271643.8,ENST00000369041.9,ENST00000369038.6,ENST00000622417.4;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10749658;cosmic70=.;CLNALLELEID=498023;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.9841;1000g2015aug_all=0.921526;esp6500siv2_all=0.9160;ExAC_ALL=0.9768;ExAC_AFR=0.7455;ExAC_AMR=0.9892;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9867;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,136:136:99:4281,407,0 1 150531380 rs11204664 T C 1271.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.06;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAMTSL4;Func=intronic;Gene=NM_001288607,NM_001288608,NM_019032;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271643.8,ENST00000369039.9,ENST00000622417.4,ENST00000369038.6;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6915;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.5855;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.4481;1000g2015aug_all=0.524161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1300,108,0 1 150552330 rs3738484 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001197320,NM_021960,NM_182763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.3804;1000g2015aug_all=0.347244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 150552392 rs3738485 C G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001197320,NM_021960,NM_182763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.379;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 150595537 rs11204682 G T 229.82 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=4.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.98;ReadPosRankSum=1.221;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENSA;Func=intronic;Gene=NM_004436,NM_207042,NM_207045,NM_207046;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361532.9,ENST00000361631.9,ENST00000369014.9,ENST00000369016.8,ENST00000339643.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.2392;1000g2015aug_all=0.147564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:19:258,0,19 1 150600181 rs2280078 C T 286.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENSA;Func=intronic;Gene=NM_004436,NM_207042,NM_207043,NM_207044,NM_207045,NM_207046,NM_207047,NM_207168;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361631.9,ENST00000503241.1,ENST00000361532.9,ENST00000271690.12,ENST00000513281.5,ENST00000503345.1,ENST00000369014.9,ENST00000339643.9,ENST00000362052.7,ENST00000356527.9,ENST00000369016.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6409;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.5677;1000g2015aug_all=0.612021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:315,30,0 1 150676485 rs12403609 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHORMAD1;Func=intronic;Gene=NM_001199829,NM_032132;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368995.8,ENST00000361824.6,ENST00000322343.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.4452;1000g2015aug_all=0.333067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 150686633 rs34593358 A T 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHORMAD1;Func=intronic;Gene=NM_001199829,NM_032132;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361824.6,ENST00000322343.11,ENST00000368995.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34593358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.135;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.2003;1000g2015aug_all=0.161941;esp6500siv2_all=0.2198;ExAC_ALL=0.2431;ExAC_AFR=0.1191;ExAC_AMR=0.3207;ExAC_EAS=0.1811;ExAC_FIN=0.2973;ExAC_NFE=0.2744;ExAC_OTH=0.2159;ExAC_SAS=0.1490;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 150687296 rs10888388 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHORMAD1;Func=intronic;Gene=NM_001199829,NM_032132;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368995.8,ENST00000322343.11,ENST00000361824.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2022\x3bName\x3e"262670:AluSx(SINE)";avsnp150=rs10888388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.4452;1000g2015aug_all=0.333067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 150724531 rs114408398 G A 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.632;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.227;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTSS;Func=intronic;Gene=NM_001199739,NM_004079;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368985.7,ENST00000448301.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114408398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00658946;esp6500siv2_all=0.0106;ExAC_ALL=0.0114;ExAC_AFR=0.0068;ExAC_AMR=0.0054;ExAC_EAS=0;ExAC_FIN=0.0208;ExAC_NFE=0.0147;ExAC_OTH=0.0138;ExAC_SAS=0.0072;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:188,0,292 1 150771703 rs10788796 T C 1046.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTSK;Func=exonic;Gene=NM_000396;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CTSK:NM_000396:exon7:c.A831G:p.A277A;Gencode=Name\x3eENST00000271651.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.987;1000g2015aug_all=0.963259;esp6500siv2_all=0.9779;ExAC_ALL=0.9887;ExAC_AFR=0.9257;ExAC_AMR=0.9940;ExAC_EAS=0.9946;ExAC_FIN=1;ExAC_NFE=0.9986;ExAC_OTH=0.9890;ExAC_SAS=0.9771;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1075,102,0 1 150779524 rs4970976 T A 262.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTSK;Func=intronic;Gene=NM_000396;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271651.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"262921:(TC)n(Simple_repeat)";avsnp150=rs4970976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.4568;1000g2015aug_all=0.335663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:291,21,0 1 150779755 rs6587522 C T 2064.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=1.131;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCTSK;Func=intronic;Gene=NM_000396;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271651.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9387;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982428;esp6500siv2_all=.;ExAC_ALL=0.9960;ExAC_AFR=0.9509;ExAC_AMR=0.9943;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=1;ExAC_SAS=0.9997;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.84;FATHMM_pred=T;phyloP100way_vertebrate=0.102;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=4.993;gerp++gt2=2.26;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2093,205,0 1 150790762 rs7518440 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARNT;Func=intronic;Gene=NM_001197325,NM_001286035,NM_001286036,NM_001350224,NM_001350225,NM_001350226,NM_001668,NM_178427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000515192.5,ENST00000505755.5,ENST00000354396.6,ENST00000358595.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9387;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 150790829 rs7518546 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARNT;Func=intronic;Gene=NM_001197325,NM_001286035,NM_001286036,NM_001350224,NM_001350225,NM_001350226,NM_001668,NM_178427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000515192.5,ENST00000505755.5,ENST00000354396.6,ENST00000358595.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9387;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 150801466 rs3738483 T C 700.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.05;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARNT;Func=intronic;Gene=NM_001197325,NM_001286035,NM_001286036,NM_001350224,NM_001350225,NM_001350226,NM_001668,NM_178427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000505755.5,ENST00000354396.6,ENST00000358595.9,ENST00000515192.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.9222;1000g2015aug_all=0.815895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:729,60,0 1 150850498 rs7517945 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350226,NM_001243491;GeneDetail=dist\x3e1254\x3bdist\x3e48317;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1439\x3bName\x3e"263075:AluSx(SINE)";avsnp150=rs7517945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 150938616 rs267739 G A 531.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCERS2;Func=UTR3;Gene=NM_022075,NM_181746;GeneDetail=NM_022075:c.*8C>T\x3bNM_181746:c.*8C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368954.9,ENST00000271688.10,ENST00000561294.5,ENST00000561111.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.9928;1000g2015aug_all=0.979233;esp6500siv2_all=0.9797;ExAC_ALL=0.9940;ExAC_AFR=0.9355;ExAC_AMR=0.9965;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9956;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:50:560,50,0 1 150940625 rs267738 T G 438.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.72;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.175;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCERS2;Func=exonic;Gene=NM_022075,NM_181746;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CERS2:NM_022075:exon4:c.A344C:p.E115A,CERS2:NM_181746:exon4:c.A344C:p.E115A;Gencode=Name\x3eENST00000271688.10,ENST00000368954.9,ENST00000561294.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eRhegmatogenous_retinal_detachment;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.0501;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0680911;esp6500siv2_all=0.1535;ExAC_ALL=0.1469;ExAC_AFR=0.0358;ExAC_AMR=0.0854;ExAC_EAS=0.0365;ExAC_FIN=0.1899;ExAC_NFE=0.2018;ExAC_OTH=0.1608;ExAC_SAS=0.0779;SIFT_score=0.005;SIFT_pred=D;Polyphen2_HDIV_score=0.863;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.756;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.605;MutationAssessor_pred=M;FATHMM_score=1.56;FATHMM_pred=T;phyloP100way_vertebrate=7.605;phyloP20way_mammalian=0.964;SiPhy_29way_logOdds=14.374;gerp++gt2=4.9;CADD=6.078;CADD_Phred=28.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,20:32:99:467,0,303 1 150944541 rs267737 A G 595.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCERS2;Func=intronic;Gene=NM_022075,NM_181746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271688.10,ENST00000368954.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:624,51,0 1 150958836 rs267733 A G 1886.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=167;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.166;SOR=0.644;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANXA9;Func=exonic;Gene=NM_003568;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ANXA9:NM_003568:exon8:c.A497G:p.D166G;Gencode=Name\x3eENST00000368947.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eLDL_cholesterol;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0634984;esp6500siv2_all=0.1233;ExAC_ALL=0.1167;ExAC_AFR=0.0583;ExAC_AMR=0.0789;ExAC_EAS=0.0360;ExAC_FIN=0.1392;ExAC_NFE=0.1521;ExAC_OTH=0.1375;ExAC_SAS=0.0690;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.95;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.003;MutationTaster_pred=P;MutationAssessor_score=4.23;MutationAssessor_pred=H;FATHMM_score=3.07;FATHMM_pred=T;phyloP100way_vertebrate=4.896;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=11.549;gerp++gt2=5.1;CADD=5.063;CADD_Phred=25.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,71:166:99:1915,0,2714 1 150958977 rs2305814 T C 2003.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.697;DP=115;ExcessHet=3.0103;FS=1.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=2.539;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANXA9;Func=intronic;Gene=NM_003568;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368947.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.5182;1000g2015aug_amr=0.6095;1000g2015aug_all=0.550919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,61:115:99:2032,0,1538 1 150969567 rs771202 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=UTR3;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=NM_001040217:c.*196T>C\x3bNM_001163258:c.*196T>C\x3bNM_001163259:c.*196T>C\x3bNM_001163260:c.*196T>C\x3bNM_001319998:c.*196T>C\x3bNM_018379:c.*196T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361936.9,ENST00000622754.4,ENST00000312210.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.9856;1000g2015aug_all=0.943091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 150969992 rs2925740 T C 3388.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=intronic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312210.9,ENST00000622754.4,ENST00000361936.9,ENST00000361738.10,ENST00000493834.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2925740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.6641;1000g2015aug_amr=0.9524;1000g2015aug_all=0.890375;esp6500siv2_all=.;ExAC_ALL=0.9408;ExAC_AFR=0.7280;ExAC_AMR=0.9742;ExAC_EAS=1;ExAC_FIN=0.9433;ExAC_NFE=0.9390;ExAC_OTH=0.9416;ExAC_SAS=0.9896;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3417,294,0 1 150970577 rs2925741 G T 2961.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=exonic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K;Gencode=Name\x3eENST00000312210.9,ENST00000622754.4,ENST00000493834.2,ENST00000361936.9,ENST00000361738.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2925741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.9856;1000g2015aug_all=0.943291;esp6500siv2_all=0.9424;ExAC_ALL=0.9830;ExAC_AFR=0.8149;ExAC_AMR=0.9918;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9912;ExAC_SAS=0.9997;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.067;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=0.94;FATHMM_pred=T;phyloP100way_vertebrate=2.484;phyloP20way_mammalian=0.152;SiPhy_29way_logOdds=9.653;gerp++gt2=3.1;CADD=1.710;CADD_Phred=14.47;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:2990,284,0 1 150970836 rs1673160 T A 1304.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=3.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=intronic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312210.9,ENST00000622754.4,ENST00000493834.2,ENST00000361936.9,ENST00000361738.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2240\x3bName\x3e"263398:AluY(SINE)";avsnp150=rs1673160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.5303;1000g2015aug_all=0.376198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1333,111,0 1 150972538 rs708909 G A 1075.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=2.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=intronic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361936.9,ENST00000361738.10,ENST00000493834.2,ENST00000312210.9,ENST00000622754.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.987;1000g2015aug_all=0.956669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1104,96,0 1 150973514 rs771203 G A 635.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=intronic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622754.4,ENST00000312210.9,ENST00000493834.2,ENST00000361738.10,ENST00000361936.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1795\x3bName\x3e"263403:AluJr(SINE)";avsnp150=rs771203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.837;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.8573;1000g2015aug_all=0.676717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:664,51,0 1 150974162 rs771204 G A 2133.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=intronic;Gene=NM_001040217,NM_001163258,NM_001163259,NM_001163260,NM_001319998,NM_018379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361738.10,ENST00000361936.9,ENST00000493834.2,ENST00000622754.4,ENST00000312210.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.83;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.8833;1000g2015aug_all=0.822484;esp6500siv2_all=0.8182;ExAC_ALL=0.8361;ExAC_AFR=0.7446;ExAC_AMR=0.9065;ExAC_EAS=0.8011;ExAC_FIN=0.8254;ExAC_NFE=0.8402;ExAC_OTH=0.8223;ExAC_SAS=0.8510;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2162,192,0 1 150975108 rs771205 T C 3236.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=0.734;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM63A;Func=exonic;Gene=NM_001163258;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MINDY1:NM_001163258:exon3:c.A130G:p.K44E;Gencode=Name\x3eENST00000361738.10,ENST00000361936.9,ENST00000493834.2,ENST00000622754.4,ENST00000312210.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8492;1000g2015aug_sas=0.9141;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.9424;1000g2015aug_all=0.758986;esp6500siv2_all=0.8020;ExAC_ALL=0.9048;ExAC_AFR=0.4288;ExAC_AMR=0.9635;ExAC_EAS=0.8052;ExAC_FIN=0.9503;ExAC_NFE=0.9752;ExAC_OTH=0.9205;ExAC_SAS=0.9037;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.038;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.81;FATHMM_pred=T;phyloP100way_vertebrate=-0.113;phyloP20way_mammalian=-0.320;SiPhy_29way_logOdds=3.651;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3265,294,0 1 150981267 rs2305813 G C 1222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.668;DP=86;ExcessHet=3.0103;FS=4.815;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.646;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368936.5,ENST00000271620.7,ENST00000368937.5,ENST00000368935.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0368;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.2017;1000g2015aug_all=0.0579073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,42:85:99:1251,0,1323 1 150981620 rs771197 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368937.5,ENST00000368935.1,ENST00000271620.7,ENST00000368936.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7897;1000g2015aug_amr=0.987;1000g2015aug_all=0.942292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 150990825 rs3738480 A G 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368937.5,ENST00000368935.1,ENST00000368936.5,ENST00000271620.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.6268;1000g2015aug_all=0.778954;esp6500siv2_all=0.7306;ExAC_ALL=0.7637;ExAC_AFR=0.7130;ExAC_AMR=0.6815;ExAC_EAS=0.8892;ExAC_FIN=0.6740;ExAC_NFE=0.7482;ExAC_OTH=0.7815;ExAC_SAS=0.8819;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:176,0,62 1 150991285 rs6664220 A G 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=1.29;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368937.5,ENST00000368935.1,ENST00000368936.5,ENST00000271620.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2371\x3bName\x3e"263441:AluSx1(SINE)";avsnp150=rs6664220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.8793;1000g2015aug_eur=0.832;1000g2015aug_afr=0.885;1000g2015aug_amr=0.67;1000g2015aug_all=0.842452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,133 1 150991330 rs6664295 A C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368937.5,ENST00000368935.1,ENST00000368936.5,ENST00000271620.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2371\x3bName\x3e"263441:AluSx1(SINE)";avsnp150=rs6664295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.6268;1000g2015aug_all=0.778954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 150997940 rs3738478 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.608;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368934.1,ENST00000368936.5,ENST00000271620.7,ENST00000368935.1,ENST00000368937.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.487;1000g2015aug_all=0.510583;esp6500siv2_all=0.5710;ExAC_ALL=0.5555;ExAC_AFR=0.5204;ExAC_AMR=0.5561;ExAC_EAS=0.3995;ExAC_FIN=0.5163;ExAC_NFE=0.5916;ExAC_OTH=0.5792;ExAC_SAS=0.5261;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,221 1 150999863 rs55717234 A G 801.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.454;DP=81;ExcessHet=3.0103;FS=0.865;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.463;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368934.1,ENST00000271620.7,ENST00000368936.5,ENST00000368935.1,ENST00000368937.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55717234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.4592;1000g2015aug_amr=0.3963;1000g2015aug_all=0.48103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,35:81:99:830,0,1206 1 151001583 rs6691701 G A 710.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=intronic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368935.1,ENST00000368937.5,ENST00000368936.5,ENST00000271620.7,ENST00000368934.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.7738;1000g2015aug_all=0.650359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:739,54,0 1 151006539 rs3738476 C A 4917.77 PASS AC=2;AF=1;AN=2;DP=157;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRUNE;Func=exonic;Gene=NM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G;Gencode=Name\x3eENST00000368936.5,ENST00000271620.7,ENST00000368934.1,ENST00000368937.5,ENST00000368935.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.503;1000g2015aug_afr=0.4387;1000g2015aug_amr=0.5187;1000g2015aug_all=0.509385;esp6500siv2_all=0.8545;ExAC_ALL=0.8457;ExAC_AFR=0.8195;ExAC_AMR=0.8703;ExAC_EAS=0.8703;ExAC_FIN=0.8266;ExAC_NFE=0.8560;ExAC_OTH=0.8337;ExAC_SAS=0.7989;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,157:157:99:4946,471,0 1 151008852 rs7540258 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001159642,NM_138278\x3bNM_001303229,NM_001303242,NM_001303243,NM_021222;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.8588;1000g2015aug_all=0.878994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151018861 rs6587552 A G 314.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBNIPL;Func=intronic;Gene=NM_001159642,NM_138278;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368931.7,ENST00000295294.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.7882;1000g2015aug_all=0.701877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:343,24,0 1 151019180 rs6587553 A G 1191.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.07;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBNIPL;Func=UTR3;Gene=NM_001159642,NM_138278;GeneDetail=NM_001159642:c.*17A>G\x3bNM_138278:c.*17A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368931.7,ENST00000295294.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.8228;1000g2015aug_all=0.811502;esp6500siv2_all=0.7779;ExAC_ALL=0.8130;ExAC_AFR=0.7249;ExAC_AMR=0.8452;ExAC_EAS=0.9244;ExAC_FIN=0.7750;ExAC_NFE=0.8066;ExAC_OTH=0.8205;ExAC_SAS=0.8285;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1220,123,0 1 151026815 rs2902810 C T 1335.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42SE1;Func=intronic;Gene=NM_001038707,NM_020239;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540998.5,ENST00000357235.5,ENST00000439374.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2902810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.8098;1000g2015aug_all=0.801917;esp6500siv2_all=0.7658;ExAC_ALL=0.8061;ExAC_AFR=0.7040;ExAC_AMR=0.8415;ExAC_EAS=0.9222;ExAC_FIN=0.7679;ExAC_NFE=0.7986;ExAC_OTH=0.8150;ExAC_SAS=0.8296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1364,138,0 1 151028234 rs11204767 G T 2173.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42SE1;Func=UTR5;Gene=NM_001038707,NM_020239;GeneDetail=NM_001038707:c.-28C>A\x3bNM_020239:c.-28C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439374.6,ENST00000357235.5,ENST00000540998.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2202,186,0 1 151039609 rs3738481 A G 995.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMLLT11;Func=intronic;Gene=NM_006818;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439374.6,ENST00000368921.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.8242;1000g2015aug_all=0.846845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1024,87,0 1 151043589 rs34061869 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=2.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABPB2;Func=intronic;Gene=NM_001323906,NM_001323907,NM_001323908,NM_001323909,NM_001323910,NM_001323911,NM_001323912,NM_001323913,NM_144618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368918.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34061869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0785;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:72,0,71 1 151055670 rs10788798 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABPB2;Func=intronic;Gene=NM_001323906,NM_001323907,NM_001323908,NM_001323909,NM_001323910,NM_001323911,NM_001323912,NM_001323913,NM_144618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368918.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"263603:Charlie1a(DNA)";avsnp150=rs10788798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.8242;1000g2015aug_all=0.845847;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 151083580 rs61819218 C G 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.002;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.773;SOR=0.652;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGABPB2;Func=intronic;Gene=NM_001323906,NM_001323907,NM_001323908,NM_001323909,NM_001323910,NM_001323911,NM_001323912,NM_001323913,NM_144618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368916.1,ENST00000368918.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e990\x3bName\x3e"263696:AluSz(SINE)";avsnp150=rs61819218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00479233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:744,0,768 1 151104598 rs4971005 A G 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.66;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=UTR3;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=NM_001178061:c.*362T>C\x3bNM_001178062:c.*362T>C\x3bNM_030913:c.*362T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621728.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.6316;1000g2015aug_amr=0.804;1000g2015aug_all=0.788139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 151104950 rs10788800 G A 1177.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=UTR3;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=NM_001178061:c.*10C>T\x3bNM_001178062:c.*10C>T\x3bNM_030913:c.*10C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613223.1,ENST00000621728.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.7334;1000g2015aug_all=0.622005;esp6500siv2_all=0.6335;ExAC_ALL=0.7163;ExAC_AFR=0.3182;ExAC_AMR=0.7626;ExAC_EAS=0.8868;ExAC_FIN=0.6667;ExAC_NFE=0.7359;ExAC_OTH=0.7095;ExAC_SAS=0.7395;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.112;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=9.112;gerp++gt2=2.91;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1206,99,0 1 151105824 rs4971006 C G 260.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=exonic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEMA6C:NM_001178062:exon19:c.G1905C:p.P635P,SEMA6C:NM_030913:exon19:c.G1929C:p.P643P,SEMA6C:NM_001178061:exon20:c.G2025C:p.P675P;Gencode=Name\x3eENST00000621728.4,ENST00000613223.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9028;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7939;1000g2015aug_all=0.758187;esp6500siv2_all=0.7343;ExAC_ALL=0.8219;ExAC_AFR=0.6405;ExAC_AMR=0.8530;ExAC_EAS=0.9228;ExAC_FIN=0.8032;ExAC_NFE=0.8229;ExAC_OTH=0.8278;ExAC_SAS=0.8306;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:289,27,0 1 151107851 rs61819220 A G 1127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.996;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.476;SOR=0.707;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=intronic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621728.4,ENST00000613223.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61819220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,43:104:99:1156,0,1656 1 151108137 rs4971007 T G 7814.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.967;DP=242;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.56;ReadPosRankSum=1.393;SOR=0.563;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=exonic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEMA6C:NM_001178062:exon13:c.A1243C:p.T415P,SEMA6C:NM_001178061:exon14:c.A1363C:p.T455P,SEMA6C:NM_030913:exon14:c.A1363C:p.T455P;Gencode=Name\x3eENST00000613223.1,ENST00000621728.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.8084;1000g2015aug_all=0.823482;esp6500siv2_all=0.7989;ExAC_ALL=0.8189;ExAC_AFR=0.7720;ExAC_AMR=0.8428;ExAC_EAS=0.9196;ExAC_FIN=0.7759;ExAC_NFE=0.8098;ExAC_OTH=0.8194;ExAC_SAS=0.8327;SIFT_score=0.536;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_pred=P;MutationAssessor_score=0.87;MutationAssessor_pred=L;FATHMM_score=2.84;FATHMM_pred=T;phyloP100way_vertebrate=0.500;phyloP20way_mammalian=0.073;SiPhy_29way_logOdds=10.287;gerp++gt2=4.64;CADD=2.148;CADD_Phred=17.17;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,239:240:99:7843,710,0 1 151109641 rs4971008 G A 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=intronic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613223.1,ENST00000621728.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2416\x3bName\x3e"263760:AluY(SINE)";avsnp150=rs4971008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7939;1000g2015aug_all=0.757188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 151109737 rs5023311 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=intronic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621728.4,ENST00000613223.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2416\x3bName\x3e"263760:AluY(SINE)";avsnp150=rs5023311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.7925;1000g2015aug_all=0.757188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 151115017 rs74949844 G A 905.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.716;DP=83;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.276;SOR=0.991;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=exonic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEMA6C:NM_001178061:exon3:c.C81T:p.P27P,SEMA6C:NM_001178062:exon3:c.C81T:p.P27P,SEMA6C:NM_030913:exon3:c.C81T:p.P27P;Gencode=Name\x3eENST00000621728.4,ENST00000613223.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74949844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0355;ExAC_ALL=0.0341;ExAC_AFR=0.0065;ExAC_AMR=0.0205;ExAC_EAS=0;ExAC_FIN=0.0331;ExAC_NFE=0.0498;ExAC_OTH=0.0391;ExAC_SAS=0.0146;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,32:83:99:934,0,1370 1 151115186 rs12569193 C T 508.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.74;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA6C;Func=intronic;Gene=NM_001178061,NM_001178062,NM_030913;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613223.1,ENST00000621728.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12569193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.7334;1000g2015aug_all=0.610024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:537,42,0 1 151144057 rs28730723 C T 2202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.451;DP=196;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.611;SOR=0.651;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMOD4;Func=intronic;Gene=NM_013353;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295314.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28730723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.085;1000g2015aug_all=0.109625;esp6500siv2_all=0.1269;ExAC_ALL=0.1507;ExAC_AFR=0.0266;ExAC_AMR=0.0727;ExAC_EAS=0.0890;ExAC_FIN=0.1495;ExAC_NFE=0.1778;ExAC_OTH=0.1740;ExAC_SAS=0.2057;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,89:196:99:2231,0,2848 1 151146186 rs7552226 C G 1260.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.9;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMOD4;Func=intronic;Gene=NM_013353;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295314.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9286;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9861;1000g2015aug_afr=0.848;1000g2015aug_amr=0.9841;1000g2015aug_all=0.92472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1289,108,0 1 151146276 rs7521416 T C 403.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMOD4;Func=intronic;Gene=NM_013353;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295314.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1205\x3bName\x3e"263828:AluYb8(SINE)";avsnp150=rs7521416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9861;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.9841;1000g2015aug_all=0.923722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:432,36,0 1 151149601 rs6656261 A G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVPS72;Func=intronic;Gene=NM_001271087,NM_001271088,NM_005997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354473.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2349\x3bName\x3e"263831:AluSg(SINE)";avsnp150=rs6656261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.9957;1000g2015aug_all=0.977436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 151171811 rs6683396 C G 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409426.5,ENST00000441902.6,ENST00000368888.8,ENST00000368890.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2198\x3bName\x3e"263899:AluSz(SINE)";avsnp150=rs6683396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6124;1000g2015aug_all=0.640176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 151171909 rs6695901 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368890.8,ENST00000441902.6,ENST00000409426.5,ENST00000368888.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2198\x3bName\x3e"263899:AluSz(SINE)";avsnp150=rs6695901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.7939;1000g2015aug_all=0.778355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 151204632 rs2298263 C G 562.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.908;DP=31;ExcessHet=3.0103;FS=3.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=0.781;SOR=0.152;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368890.8,ENST00000409426.5,ENST00000441902.6,ENST00000368888.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.134;1000g2015aug_all=0.0732827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,18:31:99:591,0,418 1 151205303 rs7544947 A G 1072.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.76;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441902.6,ENST00000409426.5,ENST00000368888.8,ENST00000368890.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2438\x3bName\x3e"263976:AluY(SINE)";avsnp150=rs7544947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6138;1000g2015aug_all=0.641374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1101,84,0 1 151205349 rs7545024 A G 513.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.1;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409426.5,ENST00000441902.6,ENST00000368888.8,ENST00000368890.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2438\x3bName\x3e"263976:AluY(SINE)";avsnp150=rs7545024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.7968;1000g2015aug_all=0.776957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:542,39,0 1 151209063 rs12407426 C T 2723.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.67;QD=34.92;SOR=2.554;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=exonic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIP5K1A:NM_001135636:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_001135637:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001330689:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_003557:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001135638:exon9:c.C969T:p.Y323Y;Gencode=Name\x3eENST00000441902.6,ENST00000409426.5,ENST00000368888.8,ENST00000368890.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6138;1000g2015aug_all=0.641374;esp6500siv2_all=0.6868;ExAC_ALL=0.6618;ExAC_AFR=0.6631;ExAC_AMR=0.6352;ExAC_EAS=0.6259;ExAC_FIN=0.5970;ExAC_NFE=0.6892;ExAC_OTH=0.6788;ExAC_SAS=0.6130;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2752,234,0 1 151210789 rs7532935 C T 2666.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIP5K1A;Func=intronic;Gene=NM_001135636,NM_001135637,NM_001135638,NM_001330689,NM_003557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368890.8,ENST00000368888.8,ENST00000409426.5,ENST00000441902.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.6023;1000g2015aug_all=0.594649;esp6500siv2_all=0.6402;ExAC_ALL=0.6444;ExAC_AFR=0.5236;ExAC_AMR=0.6298;ExAC_EAS=0.6266;ExAC_FIN=0.5970;ExAC_NFE=0.6822;ExAC_OTH=0.6678;ExAC_SAS=0.6051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:2695,273,0 1 151227371 rs3811405 A G 454.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMD4;Func=intronic;Gene=NM_001330692,NM_002810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368884.7,ENST00000368881.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"264033:G-rich(Low_complexity)";avsnp150=rs3811405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.768;1000g2015aug_all=0.761182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:483,42,0 1 151238222 rs2275900 G A 1444.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.08;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMD4;Func=intronic;Gene=NM_001330692,NM_002810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368884.7,ENST00000368881.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.589;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.6124;1000g2015aug_all=0.609225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1473,114,0 1 151239051 rs7489 T C 3562.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.462;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMD4;Func=exonic;Gene=NM_001330692,NM_002810;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S;Gencode=Name\x3eENST00000368884.7,ENST00000368881.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.6384;1000g2015aug_amr=0.6167;1000g2015aug_all=0.635383;esp6500siv2_all=0.6813;ExAC_ALL=0.6640;ExAC_AFR=0.6383;ExAC_AMR=0.6394;ExAC_EAS=0.6288;ExAC_FIN=0.6015;ExAC_NFE=0.6949;ExAC_OTH=0.6810;ExAC_SAS=0.6152;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,108:108:99:3591,324,0 1 151239570 rs10888408 C T 2414.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.24;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMD4;Func=intronic;Gene=NM_001330692,NM_002810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368881.8,ENST00000368884.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.589;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.6138;1000g2015aug_all=0.617212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2443,204,0 1 151240008 rs41302131 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001330692,NM_002810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41302131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6121;1000g2015aug_sas=0.589;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6182;1000g2015aug_all=0.640575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 151244986 rs12048670 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001330692,NR_135595;GeneDetail=dist\x3e5032\x3bdist\x3e7515;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12048670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.6153;1000g2015aug_all=0.636382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151254041 rs3811406 T C 1162.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF687;Func=ncRNA_exonic;Gene=NR_135595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447795.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.8245;1000g2015aug_amr=0.7536;1000g2015aug_all=0.745208;esp6500siv2_all=.;ExAC_ALL=0.7411;ExAC_AFR=0.8092;ExAC_AMR=0.7432;ExAC_EAS=0.6929;ExAC_FIN=0.6764;ExAC_NFE=0.8016;ExAC_OTH=0.765;ExAC_SAS=0.7055;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1191,90,0 1 151263782 rs10788803 A G 676.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF687;Func=UTR3;Gene=NM_001304763,NM_001304764,NM_020832;GeneDetail=NM_001304763:c.*97A>G\x3bNM_001304764:c.*97A>G\x3bNM_020832:c.*97A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000324048.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.593;1000g2015aug_eur=0.6352;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.5937;1000g2015aug_all=0.570487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:705,54,0 1 151271782 rs10888409 A C 852.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=2.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePI4KB;Func=intronic;Gene=NM_001198773,NM_001198774,NM_001198775,NM_001330721,NM_002651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368872.5,ENST00000368873.5,ENST00000368875.6,ENST00000368874.8,ENST00000529142.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.593;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.6037;1000g2015aug_all=0.601038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:881,81,0 1 151278505 rs2031797 A G 1487.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.91;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePI4KB;Func=intronic;Gene=NM_001198773,NM_001198774,NM_001198775,NM_001330721,NM_002651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368873.5,ENST00000368872.5,ENST00000529142.5,ENST00000368875.6,ENST00000368874.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2031797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.7536;1000g2015aug_all=0.741414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1516,126,0 1 151280400 rs1536617 C G 1771.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePI4KB;Func=intronic;Gene=NM_001198773,NM_001198774,NM_001198775,NM_001330721,NM_002651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368875.6,ENST00000368874.8,ENST00000529142.5,ENST00000368872.5,ENST00000368873.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.7536;1000g2015aug_all=0.752796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1800,144,0 1 151283019 rs943637 T C 172.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePI4KB;Func=intronic;Gene=NM_001198773,NM_001198774,NM_001198775,NM_001330721,NM_002651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000529142.5,ENST00000368875.6,ENST00000368874.8,ENST00000368873.5,ENST00000368872.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs943637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.6052;1000g2015aug_all=0.603435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:201,18,0 1 151288172 rs1056847 G A 3931.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePI4KB;Func=exonic;Gene=NM_001198773,NM_001198774,NM_001330721,NM_002651;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D,PI4KB:NM_001330721:exon4:c.C786T:p.D262D;Gencode=Name\x3eENST00000368873.5,ENST00000368872.5,ENST00000529142.5,ENST00000368874.8,ENST00000368875.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5764;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6342;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.5735;1000g2015aug_all=0.509585;esp6500siv2_all=0.5454;ExAC_ALL=0.5932;ExAC_AFR=0.3304;ExAC_AMR=0.6124;ExAC_EAS=0.5756;ExAC_FIN=0.5389;ExAC_NFE=0.6368;ExAC_OTH=0.6258;ExAC_SAS=0.5987;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3960,360,0 1 151314379 rs1752387 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFX5;Func=UTR3;Gene=NM_000449,NM_001025603;GeneDetail=NM_000449:c.*283A>G\x3bNM_001025603:c.*283A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368870.6,ENST00000422153.1,ENST00000290524.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e984\x3bName\x3e"264240:MLT1K(LTR)";avsnp150=rs1752387;cosmic70=.;CLNALLELEID=276401;CLNDN=Bare_lymphocyte_syndrome_2;CLNDISDB=MedGen:C2931418,OMIM:209920,Orphanet:ORPHA572;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.7198;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.848;1000g2015aug_amr=0.7536;1000g2015aug_all=0.764377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 151316161 rs1752386 G A 3383.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFX5;Func=exonic;Gene=NM_000449,NM_001025603;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L;Gencode=Name\x3eENST00000368870.6,ENST00000452671.6,ENST00000290524.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1752386;cosmic70=.;CLNALLELEID=389326;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.9957;1000g2015aug_all=0.978035;esp6500siv2_all=0.9752;ExAC_ALL=0.9934;ExAC_AFR=0.9267;ExAC_AMR=0.9970;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3412,317,0 1 151337788 rs10788804 A G 1829.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.314;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELENBP1;Func=intronic;Gene=NM_001258288,NM_001258289,NM_003944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426705.6,ENST00000368868.9,ENST00000447402.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.5576;1000g2015aug_all=0.508387;esp6500siv2_all=0.5261;ExAC_ALL=0.5995;ExAC_AFR=0.3102;ExAC_AMR=0.6116;ExAC_EAS=0.6011;ExAC_FIN=0.5431;ExAC_NFE=0.6335;ExAC_OTH=0.6123;ExAC_SAS=0.6548;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1858,153,0 1 151338570 rs2800953 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELENBP1;Func=intronic;Gene=NM_001258288,NM_001258289,NM_003944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447402.7,ENST00000426705.6,ENST00000368868.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e459\x3bName\x3e"264304:L2a(LINE)";avsnp150=rs2800953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.755;1000g2015aug_all=0.770367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151341703 rs55906289 G A 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.093;DP=37;ExcessHet=3.0103;FS=5.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.104;SOR=0.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELENBP1;Func=intronic;Gene=NM_001258288,NM_001258289,NM_003944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426705.6,ENST00000368868.9,ENST00000447402.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e216\x3bName\x3e"264308:MER91A(DNA)";avsnp150=rs55906289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1237;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.196;1000g2015aug_all=0.147764;esp6500siv2_all=0.2773;ExAC_ALL=0.2566;ExAC_AFR=0.1321;ExAC_AMR=0.1435;ExAC_EAS=0.0003;ExAC_FIN=0.2754;ExAC_NFE=0.3495;ExAC_OTH=0.2587;ExAC_SAS=0.1605;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:557,0,683 1 151372138 rs7172 G A 1434.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMB4;Func=exonic;Gene=NM_002796;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PSMB4:NM_002796:exon1:c.G75A:p.P25P;Gencode=Name\x3eENST00000290541.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.6667;1000g2015aug_eur=0.835;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.4669;1000g2015aug_all=0.493011;esp6500siv2_all=0.6741;ExAC_ALL=0.6746;ExAC_AFR=0.3679;ExAC_AMR=0.3699;ExAC_EAS=0.2253;ExAC_FIN=0.7729;ExAC_NFE=0.8191;ExAC_OTH=0.7159;ExAC_SAS=0.6900;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1463,132,0 1 151372770 rs2495390 A G 1769.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.75;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMB4;Func=intronic;Gene=NM_002796;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290541.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2495390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9971;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1798,147,0 1 151373200 rs2495391 T C 2257.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=1.162;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSMB4;Func=intronic;Gene=NM_002796;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290541.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2495391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.91;1000g2015aug_amr=0.9971;1000g2015aug_all=0.975839;esp6500siv2_all=0.9703;ExAC_ALL=0.9923;ExAC_AFR=0.9151;ExAC_AMR=0.9965;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9956;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2286,194,0 1 151377248 rs6667714 T C 959.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=UTR3;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=NM_001194937:c.*30A>G\x3bNM_001194938:c.*30A>G\x3bNM_015100:c.*30A>G\x3bNM_145796:c.*30A>G\x3bNM_207171:c.*30A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368863.6,ENST00000531094.5,ENST00000392723.5,ENST00000409503.5,ENST00000271715.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.91;1000g2015aug_amr=0.9971;1000g2015aug_all=0.975839;esp6500siv2_all=0.9704;ExAC_ALL=0.9921;ExAC_AFR=0.9151;ExAC_AMR=0.9966;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9950;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:988,78,0 1 151379250 rs2274535 G A 206.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531094.5,ENST00000368863.6,ENST00000392723.5,ENST00000491586.5,ENST00000409503.5,ENST00000271715.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2093;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.835;1000g2015aug_afr=0.3328;1000g2015aug_amr=0.4654;1000g2015aug_all=0.492013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:235,18,0 1 151384711 rs1887545 A G 1554.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409503.5,ENST00000271715.6,ENST00000491586.5,ENST00000368863.6,ENST00000531094.5,ENST00000392723.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.7975;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.696;1000g2015aug_all=0.784145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1583,146,0 1 151384733 rs3748550 G A 1985.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409503.5,ENST00000271715.6,ENST00000368863.6,ENST00000531094.5,ENST00000392723.5,ENST00000491586.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.7975;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.696;1000g2015aug_all=0.784145;esp6500siv2_all=0.8252;ExAC_ALL=0.8001;ExAC_AFR=0.8285;ExAC_AMR=0.7274;ExAC_EAS=0.6395;ExAC_FIN=0.8455;ExAC_NFE=0.8275;ExAC_OTH=0.8054;ExAC_SAS=0.7864;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2014,192,0 1 151395782 rs2274533 T C 1170.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271715.6,ENST00000409503.5,ENST00000491586.5,ENST00000392723.5,ENST00000368863.6,ENST00000531094.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2113;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.832;1000g2015aug_afr=0.556;1000g2015aug_amr=0.4769;1000g2015aug_all=0.552516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1199,93,0 1 151396037 rs2274534 A C 1829.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491586.5,ENST00000368863.6,ENST00000531094.5,ENST00000392723.5,ENST00000409503.5,ENST00000271715.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2113;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.835;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.464;1000g2015aug_all=0.490815;esp6500siv2_all=0.6732;ExAC_ALL=0.6746;ExAC_AFR=0.3628;ExAC_AMR=0.3705;ExAC_EAS=0.2261;ExAC_FIN=0.7732;ExAC_NFE=0.8196;ExAC_OTH=0.7137;ExAC_SAS=0.6880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1858,159,0 1 151400942 rs11204811 A C 1479.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=2.461;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000409503.5,ENST00000271715.6,ENST00000491586.5,ENST00000368863.6,ENST00000531094.5,ENST00000392723.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2113;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.835;1000g2015aug_afr=0.3729;1000g2015aug_amr=0.4683;1000g2015aug_all=0.503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1508,134,0 1 151402045 rs6587577 A G 901.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368863.6,ENST00000531094.5,ENST00000392723.5,ENST00000491586.5,ENST00000409503.5,ENST00000271715.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.6902;1000g2015aug_all=0.758986;esp6500siv2_all=0.8019;ExAC_ALL=0.7931;ExAC_AFR=0.7597;ExAC_AMR=0.7250;ExAC_EAS=0.6361;ExAC_FIN=0.8458;ExAC_NFE=0.8275;ExAC_OTH=0.8024;ExAC_SAS=0.7837;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:930,81,0 1 151413790 rs4528122 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796,NM_207171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271715.6,ENST00000409503.5,ENST00000392723.5,ENST00000531094.5,ENST00000368863.6,ENST00000491586.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4528122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.835;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.4654;1000g2015aug_all=0.492412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 151430051 rs4971047 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGZ;Func=intronic;Gene=NM_001194937,NM_001194938,NM_015100,NM_145796;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368863.6,ENST00000531094.5,ENST00000491586.5,ENST00000409503.5,ENST00000271715.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.696;1000g2015aug_all=0.783546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 151465478 rs11204831 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145796,NM_020770;GeneDetail=dist\x3e33537\x3bdist\x3e18384;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.987;1000g2015aug_all=0.964257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151483679 rs11204836 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.9856;1000g2015aug_all=0.967452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 151483790 rs7516233 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.9856;1000g2015aug_all=0.967452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 151483854 rs7551059 A G 128.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8994;1000g2015aug_amr=0.9899;1000g2015aug_all=0.972045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:156,12,0 1 151483892 rs7516311 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=UTR5;Gene=NM_020770;GeneDetail=NM_020770:c.-7104G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.885;1000g2015aug_amr=0.9856;1000g2015aug_all=0.967652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 151499635 rs2298168 C T 1065.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=intronic;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.825;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.572;1000g2015aug_all=0.500599;esp6500siv2_all=0.6894;ExAC_ALL=0.6858;ExAC_AFR=0.4170;ExAC_AMR=0.4640;ExAC_EAS=0.1951;ExAC_FIN=0.7526;ExAC_NFE=0.8240;ExAC_OTH=0.7225;ExAC_SAS=0.6796;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1094,93,0 1 151501698 rs2096232 A G 961.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=2.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=intronic;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3215\x3bName\x3e"264728:L1MB7(LINE)";avsnp150=rs2096232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.9726;1000g2015aug_all=0.932708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:990,87,0 1 151501737 rs6678068 T C 1679.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=intronic;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3215\x3bName\x3e"264728:L1MB7(LINE)";avsnp150=rs6678068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.9741;1000g2015aug_all=0.936302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1708,150,0 1 151502427 rs34834099 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.389;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.263;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=exonic;Gene=NM_020770;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CGN:NM_020770:exon12:c.C2149T:p.R717W;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34834099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0155751;esp6500siv2_all=0.0451;ExAC_ALL=0.0409;ExAC_AFR=0.0104;ExAC_AMR=0.0128;ExAC_EAS=0;ExAC_FIN=0.0573;ExAC_NFE=0.0603;ExAC_OTH=0.0372;ExAC_SAS=0.0170;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.967;Polyphen2_HVAR_pred=D;LRT_score=0.068;LRT_pred=N;MutationTaster_score=0.615;MutationTaster_pred=P;MutationAssessor_score=2.6;MutationAssessor_pred=M;FATHMM_score=-0.2;FATHMM_pred=T;phyloP100way_vertebrate=0.166;phyloP20way_mammalian=0.058;SiPhy_29way_logOdds=3.549;gerp++gt2=3.25;CADD=6.345;CADD_Phred=29.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:107,0,149 1 151504689 rs35342887 T C 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=1.026;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=intronic;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e971\x3bName\x3e"264735:MIR(SINE)";avsnp150=rs35342887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.111;1000g2015aug_all=0.114617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:189,0,137 1 151504778 rs6673116 C T 530.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.594;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=2.188;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=intronic;Gene=NM_020770;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.5144;1000g2015aug_all=0.374601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,21:38:99:559,0,460 1 151510026 rs1418823 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCGN;Func=UTR3;Gene=NM_020770;GeneDetail=NM_020770:c.*204A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271636.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.8833;1000g2015aug_all=0.793131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 151512802 rs16833376 G T 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.602;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=2.085;SOR=0.481;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=UTR5;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=NM_001126337:c.-41G>T\x3bNM_001301317:c.-21414G>T\x3bNM_020127:c.-41G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368848.6,ENST00000392712.7,ENST00000368849.7,ENST00000353024.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16833376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.034;1000g2015aug_amr=0.111;1000g2015aug_all=0.115016;esp6500siv2_all=0.1633;ExAC_ALL=0.1633;ExAC_AFR=0.0494;ExAC_AMR=0.0870;ExAC_EAS=0.0453;ExAC_FIN=0.1608;ExAC_NFE=0.2128;ExAC_OTH=0.1741;ExAC_SAS=0.1508;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:411,0,541 1 151529918 rs11204848 C T 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368849.7,ENST00000353024.4,ENST00000434112.1,ENST00000392712.7,ENST00000368848.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.5101;1000g2015aug_all=0.36901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:59,0,72 1 151534142 rs4132646 A C 799.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.311;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.83;SOR=0.651;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392712.7,ENST00000368848.6,ENST00000434112.1,ENST00000353024.4,ENST00000368849.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4132646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.5115;1000g2015aug_all=0.370208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,33:70:99:828,0,968 1 151536685 rs72692721 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.389;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.349;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392712.7,ENST00000368848.6,ENST00000353024.4,ENST00000368849.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e456\x3bName\x3e"264813:L2a(LINE)";avsnp150=rs72692721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1037;1000g2015aug_all=0.107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:149,0,108 1 151542099 rs3748610 G T 2458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.517;DP=171;ExcessHet=3.0103;FS=0.572;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.053;SOR=0.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392712.7,ENST00000368848.6,ENST00000353024.4,ENST00000368849.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.672;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.5591;1000g2015aug_all=0.509984;esp6500siv2_all=0.6248;ExAC_ALL=0.5992;ExAC_AFR=0.4958;ExAC_AMR=0.4963;ExAC_EAS=0.3720;ExAC_FIN=0.5662;ExAC_NFE=0.6837;ExAC_OTH=0.6519;ExAC_SAS=0.5238;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,92:171:99:2487,0,2124 1 151546931 rs6660238 A G 1116.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392712.7,ENST00000368848.6,ENST00000368849.7,ENST00000353024.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.8184;1000g2015aug_all=0.900559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1145,90,0 1 151551078 rs1544218 A G 104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.727;DP=14;ExcessHet=3.0103;FS=4.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-1.041;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353024.4,ENST00000368849.7,ENST00000368848.6,ENST00000392712.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1544218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.6649;1000g2015aug_amr=0.7507;1000g2015aug_all=0.777955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:133,0,302 1 151551320 rs3748608 G A 1119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.592;DP=113;ExcessHet=3.0103;FS=6.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.195;SOR=1.249;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368848.6,ENST00000392712.7,ENST00000368849.7,ENST00000353024.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.672;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.5461;1000g2015aug_all=0.459665;esp6500siv2_all=0.5752;ExAC_ALL=0.5999;ExAC_AFR=0.3479;ExAC_AMR=0.6052;ExAC_EAS=0.4524;ExAC_FIN=0.6495;ExAC_NFE=0.7091;ExAC_OTH=0.6405;ExAC_SAS=0.5433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,46:113:99:1148,0,1768 1 151553675 rs80320753 G T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353024.4,ENST00000368849.7,ENST00000392712.7,ENST00000368848.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80320753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0536;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.0303;1000g2015aug_amr=0.062;1000g2015aug_all=0.0790735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 151553918 rs10494267 C T 423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.3;ReadPosRankSum=0.615;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=intronic;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000353024.4,ENST00000368849.7,ENST00000368848.6,ENST00000392712.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.668;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.5476;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:452,0,180 1 151554503 rs1891592 T C 1862.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.002;DP=145;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.348;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTUFT1;Func=UTR3;Gene=NM_001126337,NM_001301317,NM_020127;GeneDetail=NM_001126337:c.*320T>C\x3bNM_001301317:c.*320T>C\x3bNM_020127:c.*320T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392712.7,ENST00000368848.6,ENST00000368849.7,ENST00000353024.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.668;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.5461;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,72:144:99:1891,0,1924 1 151634803 rs11808761 G A 471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.493;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.241;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX27;Func=intronic;Gene=NM_001330723,NM_030918;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368843.7,ENST00000458013.6,ENST00000368838.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e379\x3bName\x3e"265053:MIR(SINE)";avsnp150=rs11808761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.3977;1000g2015aug_all=0.269968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:500,0,464 1 151655751 rs73000088 C T 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.839;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=-0.29;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNX27;Func=intronic;Gene=NM_001330723,NM_030918;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368843.7,ENST00000368838.1,ENST00000458013.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73000088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.1256;1000g2015aug_amr=0.0677;1000g2015aug_all=0.100839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:175,0,300 1 151675618 rs1308150 T C 1654.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=1.48;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELF3;Func=UTR3;Gene=NM_001172648,NM_001172649,NM_001291106,NM_001291107,NM_007185;GeneDetail=NM_001172648:c.*317A>G\x3bNM_001172649:c.*317A>G\x3bNM_001291106:c.*317A>G\x3bNM_001291107:c.*317A>G\x3bNM_007185:c.*317A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290585.8,ENST00000290583.8,ENST00000457548.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1308150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.9971;1000g2015aug_all=0.971645;esp6500siv2_all=0.9746;ExAC_ALL=0.9942;ExAC_AFR=0.9;ExAC_AMR=0.9974;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9993;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1683,156,0 1 151679441 rs1308152 T C 420.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.99;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=2.063;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELF3;Func=intronic;Gene=NM_001172648,NM_001172649,NM_001291106,NM_001291107,NM_007185;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290585.8,ENST00000457548.1,ENST00000290583.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e252\x3bName\x3e"265146:MIRc(SINE)";avsnp150=rs1308152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.5317;1000g2015aug_all=0.519369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,13:20:99:449,0,232 1 151679900 rs10888428 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.859;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-1.698;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELF3;Func=intronic;Gene=NM_001172648,NM_001172649,NM_001291106,NM_001291107,NM_007185;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290585.8,ENST00000457548.1,ENST00000290583.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.3449;1000g2015aug_afr=0.4902;1000g2015aug_amr=0.5317;1000g2015aug_all=0.511781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,9:30:99:252,0,651 1 151682503 rs3762300 G A 207.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.404;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.74;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELF3;Func=intronic;Gene=NM_001172648,NM_001172649,NM_001291106,NM_001291107,NM_007185;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290585.8,ENST00000290583.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0960463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:236,0,294 1 151686983 rs939592 T A 1377.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.861;DP=127;ExcessHet=3.0103;FS=2.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.425;SOR=0.625;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCELF3;Func=intronic;Gene=NM_001172648,NM_001172649,NM_001291106,NM_001291107,NM_007185;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7,ENST00000290583.8,ENST00000290585.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs939592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.6484;1000g2015aug_all=0.708666;esp6500siv2_all=.;ExAC_ALL=0.6079;ExAC_AFR=0.7902;ExAC_AMR=0.6189;ExAC_EAS=0.8333;ExAC_FIN=0.5556;ExAC_NFE=0.5068;ExAC_OTH=0.5657;ExAC_SAS=0.6371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,62:125:99:1406,0,1718 1 151692475 . A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291106,NM_001144956;GeneDetail=dist\x3e3179\x3bdist\x3e1538;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1356\x3bName\x3e"265164:MER33(DNA)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 151692483 rs6683687 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291106,NM_001144956;GeneDetail=dist\x3e3187\x3bdist\x3e1530;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1356\x3bName\x3e"265164:MER33(DNA)";avsnp150=rs6683687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.3458;1000g2015aug_all=0.299121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 151700214 rs2275920 T C 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.078;SOR=0.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIIAD1;Func=intronic;Gene=NM_001144956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7,ENST00000479191.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.2925;1000g2015aug_all=0.179912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:173,0,252 1 151700227 rs2275921 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.431;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIIAD1;Func=intronic;Gene=NM_001144956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7,ENST00000479191.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.3141;1000g2015aug_all=0.233427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 151701345 rs2298294 A G 710.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.116;DP=64;ExcessHet=3.0103;FS=0.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.169;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIIAD1;Func=UTR3;Gene=NM_001144956;GeneDetail=NM_001144956:c.*33A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326413.7,ENST00000479191.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.3141;1000g2015aug_all=0.233227;esp6500siv2_all=0.2111;ExAC_ALL=0.2257;ExAC_AFR=0.2045;ExAC_AMR=0.3039;ExAC_EAS=0.2311;ExAC_FIN=0.2188;ExAC_NFE=0.2348;ExAC_OTH=0.2766;ExAC_SAS=0.2161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,28:64:99:739,0,990 1 151706366 rs2489890 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001144956,NM_031420;GeneDetail=dist\x3e4284\x3bdist\x3e25753;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"265197:AluSz(SINE)";avsnp150=rs2489890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.7882;1000g2015aug_all=0.859425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151732700 rs10888433 A G 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.633;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.185;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL9;Func=intronic;Gene=NM_001300733,NM_031420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368830.7,ENST00000368829.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.6944;1000g2015aug_amr=0.5951;1000g2015aug_all=0.512181;esp6500siv2_all=0.5295;ExAC_ALL=0.4900;ExAC_AFR=0.6464;ExAC_AMR=0.5809;ExAC_EAS=0.3578;ExAC_FIN=0.5526;ExAC_NFE=0.4885;ExAC_OTH=0.4890;ExAC_SAS=0.3783;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,22:36:99:539,0,231 1 151733335 rs8480 T G 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.596;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.891;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL9;Func=exonic;Gene=NM_001300733,NM_031420;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MRPL9:NM_001300733:exon5:c.A527C:p.E176A,MRPL9:NM_031420:exon6:c.A629C:p.E210A;Gencode=Name\x3eENST00000368829.3,ENST00000368830.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.6936;1000g2015aug_amr=0.5951;1000g2015aug_all=0.511981;esp6500siv2_all=0.5296;ExAC_ALL=0.4899;ExAC_AFR=0.6458;ExAC_AMR=0.5818;ExAC_EAS=0.3573;ExAC_FIN=0.5513;ExAC_NFE=0.4883;ExAC_OTH=0.4890;ExAC_SAS=0.3787;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.581;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_pred=N;MutationTaster_score=0.014;MutationTaster_pred=P;MutationAssessor_score=1.995;MutationAssessor_pred=M;FATHMM_score=1.25;FATHMM_pred=T;phyloP100way_vertebrate=3.988;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=11.508;gerp++gt2=5.27;CADD=4.445;CADD_Phred=24.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:269,0,316 1 151740420 rs12066445 G A 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.169;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.403;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOAZ3;Func=intronic;Gene=NM_001134939,NM_001301371,NM_016178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453029.2,ENST00000479764.5,ENST00000512280.1,ENST00000400999.5,ENST00000321531.9,ENST00000627780.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12066445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.3419;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.3458;1000g2015aug_all=0.269169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:270,0,508 1 151740479 rs1196457 C A 1568.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOAZ3;Func=intronic;Gene=NM_001134939,NM_001301371,NM_016178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000321531.9,ENST00000627780.2,ENST00000453029.2,ENST00000479764.5,ENST00000512280.1,ENST00000400999.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1196457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1597,126,0 1 151742494 rs4995159 A G 531.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.54;MQRankSum=-0.586;QD=24.17;ReadPosRankSum=2.508;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOAZ3;Func=intronic;Gene=NM_001134939,NM_001301371,NM_016178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000321531.9,ENST00000627780.2,ENST00000400999.5,ENST00000453029.2,ENST00000479764.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10272\x3bName\x3e"265271:SVA_C(Retroposon)";avsnp150=rs4995159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.2723;1000g2015aug_all=0.32528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,15:22:99:560,0,226 1 151742798 rs3748612 T C 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.502;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.178;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOAZ3;Func=intronic;Gene=NM_001134939,NM_001301371,NM_016178;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000627780.2,ENST00000321531.9,ENST00000400999.5,ENST00000479764.5,ENST00000453029.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3545;1000g2015aug_all=0.289936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:740,0,492 1 151747043 rs1123855 C T 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.289;DP=59;ExcessHet=3.0103;FS=1.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.246;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368823.5,ENST00000368827.10,ENST00000440583.6,ENST00000368824.7,ENST00000368822.5,ENST00000458431.6,ENST00000368825.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1123855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.2695;1000g2015aug_all=0.319089;esp6500siv2_all=0.4319;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,25:59:99:663,0,1049 1 151747733 rs1781421 C T 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.249;DP=42;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.881;SOR=1.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368825.7,ENST00000368823.5,ENST00000368827.10,ENST00000368824.7,ENST00000458431.6,ENST00000368822.5,ENST00000440583.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.41;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.2709;1000g2015aug_all=0.314896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:717,0,546 1 151747799 rs1781419 G A 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.193;DP=40;ExcessHet=3.0103;FS=11.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=0.755;SOR=2.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458431.6,ENST00000368822.5,ENST00000368824.7,ENST00000440583.6,ENST00000368827.10,ENST00000368823.5,ENST00000368825.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1781419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.6513;1000g2015aug_all=0.707268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,25:40:99:856,0,426 1 151747970 rs11204885 A G 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.056;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-1.513;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=exonic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TDRKH:NM_001083963:exon10:c.T1332C:p.H444H,TDRKH:NM_001083964:exon10:c.T1197C:p.H399H,TDRKH:NM_001083965:exon10:c.T1332C:p.H444H,TDRKH:NM_006862:exon10:c.T1332C:p.H444H;Gencode=Name\x3eENST00000368825.7,ENST00000458431.6,ENST00000368822.5,ENST00000368824.7,ENST00000440583.6,ENST00000368823.5,ENST00000368827.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.1828;ExAC_ALL=0.2250;ExAC_AFR=0.1107;ExAC_AMR=0.2876;ExAC_EAS=0.2308;ExAC_FIN=0.2809;ExAC_NFE=0.2313;ExAC_OTH=0.2467;ExAC_SAS=0.1968;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,29:75:99:744,0,1306 1 151748425 rs3923394 C A 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.413;DP=23;ExcessHet=3.0103;FS=6.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.745;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368825.7,ENST00000368823.5,ENST00000368827.10,ENST00000440583.6,ENST00000368822.5,ENST00000458431.6,ENST00000368824.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3923394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.5235;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.4251;1000g2015aug_all=0.516973;esp6500siv2_all=0.6472;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:280,0,404 1 151749311 rs6684101 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.282;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368827.10,ENST00000368823.5,ENST00000458431.6,ENST00000368822.5,ENST00000368824.7,ENST00000440583.6,ENST00000368825.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.2709;1000g2015aug_all=0.320687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 151750963 rs1996730 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368823.5,ENST00000368827.10,ENST00000458431.6,ENST00000368822.5,ENST00000368824.7,ENST00000440583.6,ENST00000368825.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1996730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 151751081 rs1996729 G A 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.395;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.065;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368827.10,ENST00000368823.5,ENST00000458431.6,ENST00000368822.5,ENST00000368824.7,ENST00000440583.6,ENST00000368825.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1996729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.2709;1000g2015aug_all=0.320687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:167,0,422 1 151754112 rs35077383 T C 398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.946;DP=41;ExcessHet=3.0103;FS=2.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-1.169;SOR=1.227;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRKH;Func=intronic;Gene=NM_001083963,NM_001083964,NM_001083965,NM_006862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368825.7,ENST00000368823.5,ENST00000368827.10,ENST00000440583.6,ENST00000368822.5,ENST00000458431.6,ENST00000368824.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35077383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.2752;1000g2015aug_all=0.320687;esp6500siv2_all=0.4323;ExAC_ALL=0.4252;ExAC_AFR=0.2740;ExAC_AMR=0.2546;ExAC_EAS=0.2317;ExAC_FIN=0.4726;ExAC_NFE=0.5016;ExAC_OTH=0.4628;ExAC_SAS=0.4051;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,14:41:99:427,0,785 1 151773152 rs1521180 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINGO4;Func=UTR3;Gene=NM_001004432;GeneDetail=NM_001004432:c.*247T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368820.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1521180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 151773167 rs12409493 G A 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINGO4;Func=UTR3;Gene=NM_001004432;GeneDetail=NM_001004432:c.*232C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368820.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12409493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.18;1000g2015aug_amr=0.3559;1000g2015aug_all=0.276358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:109,0,131 1 151780177 rs3828057 C T 1330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.273;DP=98;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.702;SOR=0.698;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356728.10,ENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.211;1000g2015aug_amr=0.2334;1000g2015aug_all=0.285144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,53:98:99:1359,0,1131 1 151783597 rs939594 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356728.10,ENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs939594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.6153;1000g2015aug_all=0.730232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 151783688 rs939595 A C 399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.506;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-1.848;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6,ENST00000356728.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs939595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.611;1000g2015aug_all=0.697085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:428,0,395 1 151789609 rs56273334 C T 695.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356728.10,ENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56273334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:724,54,0 1 151789611 rs55841824 C T 213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.979;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.717;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356728.10,ENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55841824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.702;1000g2015aug_amr=0.634;1000g2015aug_all=0.785343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:242,0,241 1 151789647 rs12144914 T G 380.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.24;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.488;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6,ENST00000356728.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.267;1000g2015aug_amr=0.2781;1000g2015aug_all=0.398163;esp6500siv2_all=0.4439;ExAC_ALL=0.4530;ExAC_AFR=0.2988;ExAC_AMR=0.2923;ExAC_EAS=0.4591;ExAC_FIN=0.5395;ExAC_NFE=0.4991;ExAC_OTH=0.4768;ExAC_SAS=0.4372;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:409,0,565 1 151798003 rs7541097 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_001001523,NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6,ENST00000356728.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 151801680 rs4845604 G A 64.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-1.645;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eInflammatory_bowel_disease;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.292;1000g2015aug_amr=0.1311;1000g2015aug_all=0.148962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:93,0,69 1 151803449 rs80223568 G T 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.447;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.569;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80223568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.2262;1000g2015aug_all=0.254593;esp6500siv2_all=.;ExAC_ALL=0.3905;ExAC_AFR=0.0918;ExAC_AMR=0.3404;ExAC_EAS=0.4545;ExAC_FIN=.;ExAC_NFE=0.4128;ExAC_OTH=0.3983;ExAC_SAS=0.3895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:370,0,253 1 151803764 rs12126984 G C 245.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRORC;Func=intronic;Gene=NM_005060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318247.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.7435;1000g2015aug_all=0.77496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:274,27,0 1 151809530 rs12140021 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001136003;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.2017;1000g2015aug_all=0.232029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 151810304 rs12122596 G C 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NR_024237\x3bNM_001136003;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454109.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.375;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.498;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.5331;1000g2015aug_all=0.512181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 151811226 rs6673556 G A 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100132111,C2CD4D;Func=exonic;Gene=NM_001136003;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C2CD4D:NM_001136003:exon2:c.C240T:p.C80C;Gencode=Name\x3eENST00000454109.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.9841;1000g2015aug_all=0.931709;esp6500siv2_all=.;ExAC_ALL=0.9853;ExAC_AFR=0.8333;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=.;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9955;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 151817998 rs998454 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_024237,NM_182578;GeneDetail=dist\x3e1357\x3bdist\x3e1579;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434182.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e230\x3bName\x3e"265389:L2c(LINE)";avsnp150=rs998454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.547;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.7291;1000g2015aug_all=0.68111;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 151820298 rs6587624 G C 3704.77 PASS AC=2;AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=0.936;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM5;Func=exonic;Gene=NM_182578;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THEM5:NM_182578:exon5:c.C616G:p.L206V;Gencode=Name\x3eENST00000368817.9,ENST00000434182.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996605;esp6500siv2_all=0.9953;ExAC_ALL=0.9988;ExAC_AFR=0.9861;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.788;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.089;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.215;MutationAssessor_pred=N;FATHMM_score=2.4;FATHMM_pred=T;phyloP100way_vertebrate=0.008;phyloP20way_mammalian=0.000;SiPhy_29way_logOdds=3.983;gerp++gt2=3.13;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,117:117:99:3733,351,0 1 151820324 rs6587625 T C 3983.77 PASS AC=2;AF=1;AN=2;DP=123;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=0.742;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM5;Func=exonic;Gene=NM_182578;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THEM5:NM_182578:exon5:c.A590G:p.D197G;Gencode=Name\x3eENST00000434182.1,ENST00000368817.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8752;1000g2015aug_amr=0.8674;1000g2015aug_all=0.777955;esp6500siv2_all=0.8255;ExAC_ALL=0.7861;ExAC_AFR=0.8749;ExAC_AMR=0.8821;ExAC_EAS=0.6513;ExAC_FIN=0.9032;ExAC_NFE=0.8020;ExAC_OTH=0.7841;ExAC_SAS=0.6225;SIFT_score=0.921;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.175;MutationAssessor_pred=N;FATHMM_score=2.71;FATHMM_pred=T;phyloP100way_vertebrate=0.703;phyloP20way_mammalian=0.002;SiPhy_29way_logOdds=7.141;gerp++gt2=4.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:4012,369,0 1 151825713 rs998500 G C 304.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM5;Func=intronic;Gene=NM_182578;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368817.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs998500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.672;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.5389;1000g2015aug_all=0.50599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:333,24,0 1 151825991 rs7556386 G T 2408.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.578;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM5;Func=exonic;Gene=NM_182578;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=THEM5:NM_182578:exon1:c.C51A:p.G17G;Gencode=Name\x3eENST00000368817.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.7421;1000g2015aug_amr=0.562;1000g2015aug_all=0.626597;esp6500siv2_all=0.6920;ExAC_ALL=0.6443;ExAC_AFR=0.7405;ExAC_AMR=0.5834;ExAC_EAS=0.6253;ExAC_FIN=0.8264;ExAC_NFE=0.6736;ExAC_OTH=0.6575;ExAC_SAS=0.4440;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2437,224,0 1 151861477 rs1352654 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM4;Func=intronic;Gene=NM_053055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368814.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e345\x3bName\x3e"265489:L1ME4a(LINE)";avsnp150=rs1352654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.9078;1000g2015aug_all=0.879992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 151862661 rs1060870 G A 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.927;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.816;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM4;Func=intronic;Gene=NM_053055;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368814.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2457\x3bName\x3e"265491:AluSp(SINE)";avsnp150=rs1060870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.7003;1000g2015aug_all=0.559505;esp6500siv2_all=0.5723;ExAC_ALL=0.4937;ExAC_AFR=0.5581;ExAC_AMR=0.6199;ExAC_EAS=0.6376;ExAC_FIN=0.6511;ExAC_NFE=0.5366;ExAC_OTH=0.5221;ExAC_SAS=0.3911;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,19:34:99:487,0,405 1 151867560 rs3762427 G A 491.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM4;Func=exonic;Gene=NM_053055;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=THEM4:NM_053055:exon2:c.C210T:p.D70D;Gencode=Name\x3eENST00000368814.7,ENST00000489410.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.9092;1000g2015aug_all=0.923123;esp6500siv2_all=0.9115;ExAC_ALL=0.9148;ExAC_AFR=0.9125;ExAC_AMR=0.9121;ExAC_EAS=0.9453;ExAC_FIN=0.9138;ExAC_NFE=0.9116;ExAC_OTH=0.8877;ExAC_SAS=0.9171;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:520,48,0 1 151881885 rs3748805 A C 1292.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHEM4;Func=exonic;Gene=NM_053055;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THEM4:NM_053055:exon1:c.T50G:p.L17R;Gencode=Name\x3eENST00000489410.1,ENST00000368814.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.9092;1000g2015aug_all=0.922923;esp6500siv2_all=.;ExAC_ALL=0.9136;ExAC_AFR=0.9134;ExAC_AMR=0.8778;ExAC_EAS=0.9660;ExAC_FIN=1;ExAC_NFE=0.8963;ExAC_OTH=0.9333;ExAC_SAS=0.9213;SIFT_score=0.726;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.140;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_pred=N;FATHMM_score=2.45;FATHMM_pred=T;phyloP100way_vertebrate=-0.345;phyloP20way_mammalian=-0.196;SiPhy_29way_logOdds=0.457;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1321,105,0 1 151938131 rs6587637 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_053055,NM_002966;GeneDetail=dist\x3e55770\x3bdist\x3e17255;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e791\x3bName\x3e"265682:ERVL-E-int(LTR)";avsnp150=rs6587637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.3366;1000g2015aug_amr=0.2161;1000g2015aug_all=0.347444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 151938138 rs6587638 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_053055,NM_002966;GeneDetail=dist\x3e55777\x3bdist\x3e17248;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e791\x3bName\x3e"265682:ERVL-E-int(LTR)";avsnp150=rs6587638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.3161;1000g2015aug_afr=0.3366;1000g2015aug_amr=0.2161;1000g2015aug_all=0.347444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 151941300 rs1602248 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_053055,NM_002966;GeneDetail=dist\x3e58939\x3bdist\x3e14086;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4296\x3bName\x3e"265689:MER21B(LTR)";avsnp150=rs1602248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.7844;1000g2015aug_amr=0.9207;1000g2015aug_all=0.895168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 151991140 rs1979637 G T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNBPF18P;Func=ncRNA_exonic;Gene=NR_103561;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432386.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1979637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.5;1000g2015aug_eur=0.174;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1081;1000g2015aug_all=0.198682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 152005482 rs2999550 C G 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.589;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A11;Func=intronic;Gene=NM_005620;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271638.2,ENST00000432386.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e621\x3bName\x3e"265796:MIRc(SINE)";avsnp150=rs2999550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.2205;1000g2015aug_all=0.346645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:170,0,140 1 152009530 rs3811422 T C 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.41;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005620;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432386.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.9325;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.938;1000g2015aug_all=0.875799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 152060796 rs2935207 A T 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHHL1;Func=intronic;Gene=NM_001008536;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368806.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2935207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 152079823 rs1131473 C G 893.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.003;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.79;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHH;Func=UTR3;Gene=NM_007113;GeneDetail=NM_007113:c.*38G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614923.1,ENST00000368804.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.585;1000g2015aug_all=0.470248;esp6500siv2_all=0.3578;ExAC_ALL=0.4365;ExAC_AFR=0.2867;ExAC_AMR=0.5837;ExAC_EAS=0.5121;ExAC_FIN=0.3490;ExAC_NFE=0.3960;ExAC_OTH=0.4244;ExAC_SAS=0.6850;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,35:66:99:922,0,926 1 152079989 rs1131471 T G 1693.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.388;DP=103;ExcessHet=3.0103;FS=1.639;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.892;SOR=0.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHH;Func=exonic;Gene=NM_007113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TCHH:NM_007113:exon3:c.A5704C:p.K1902Q;Gencode=Name\x3eENST00000368804.5,ENST00000614923.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5136;1000g2015aug_amr=0.6484;1000g2015aug_all=0.578075;esp6500siv2_all=0.4474;ExAC_ALL=0.5093;ExAC_AFR=0.4812;ExAC_AMR=0.6488;ExAC_EAS=0.5791;ExAC_FIN=0.3843;ExAC_NFE=0.4381;ExAC_OTH=0.5100;ExAC_SAS=0.7296;SIFT_score=0.422;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.04;MutationAssessor_pred=N;FATHMM_score=3.43;FATHMM_pred=T;phyloP100way_vertebrate=-2.677;phyloP20way_mammalian=-2.839;SiPhy_29way_logOdds=5.435;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,65:103:99:1722,0,971 1 152081921 rs2496253 G C 921.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.339;DP=71;ExcessHet=3.0103;FS=3.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.617;SOR=0.81;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHH;Func=exonic;Gene=NM_007113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TCHH:NM_007113:exon3:c.C3772G:p.L1258V;Gencode=Name\x3eENST00000614923.1,ENST00000368804.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2496253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.647;1000g2015aug_all=0.56849;esp6500siv2_all=0.4400;ExAC_ALL=0.5071;ExAC_AFR=0.4538;ExAC_AMR=0.6487;ExAC_EAS=0.5797;ExAC_FIN=0.3843;ExAC_NFE=0.4381;ExAC_OTH=0.5078;ExAC_SAS=0.7295;SIFT_score=0.568;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.3;MutationAssessor_pred=N;FATHMM_score=3.71;FATHMM_pred=T;phyloP100way_vertebrate=-0.068;phyloP20way_mammalian=0.029;SiPhy_29way_logOdds=12.104;gerp++gt2=3.14;CADD=1.002;CADD_Phred=10.68;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,36:71:99:950,0,942 1 152083325 rs11803731 A T 708.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=57;ExcessHet=3.0103;FS=5.408;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.477;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHH;Func=exonic;Gene=NM_007113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TCHH:NM_007113:exon3:c.T2368A:p.L790M;Gencode=Name\x3eENST00000614923.1,ENST00000368804.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11803731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHair_morphology;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0937;1000g2015aug_all=0.0726837;esp6500siv2_all=0.1321;ExAC_ALL=0.1571;ExAC_AFR=0.0327;ExAC_AMR=0.0823;ExAC_EAS=0.0005;ExAC_FIN=0.2831;ExAC_NFE=0.2105;ExAC_OTH=0.1731;ExAC_SAS=0.0971;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.737;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=3.1;FATHMM_pred=T;phyloP100way_vertebrate=0.006;phyloP20way_mammalian=0.044;SiPhy_29way_logOdds=1.528;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,30:56:99:737,0,652 1 152085505 rs2515663 A C 1480.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.48;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTCHH;Func=exonic;Gene=NM_007113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TCHH:NM_007113:exon3:c.T188G:p.L63R;Gencode=Name\x3eENST00000614923.1,ENST00000368804.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2515663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9614;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989217;esp6500siv2_all=0.9902;ExAC_ALL=0.9970;ExAC_AFR=0.9659;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9998;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.197;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.948;MutationTaster_pred=P;MutationAssessor_score=-1.75;MutationAssessor_pred=N;FATHMM_score=2.55;FATHMM_pred=T;phyloP100way_vertebrate=0.520;phyloP20way_mammalian=0.065;SiPhy_29way_logOdds=10.346;gerp++gt2=4.58;CADD=1.590;CADD_Phred=13.80;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1509,156,0 1 152128121 rs72696940 G A 2354.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.003;DP=183;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.92;MQRankSum=1.045;QD=12.94;ReadPosRankSum=0.414;SOR=0.736;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPTN;Func=exonic;Gene=NM_001122965;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RPTN:NM_001122965:exon3:c.C1454T:p.S485F;Gencode=Name\x3eENST00000316073.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72696940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0515176;esp6500siv2_all=0.1021;ExAC_ALL=0.1037;ExAC_AFR=0.0207;ExAC_AMR=0.0626;ExAC_EAS=0.0014;ExAC_FIN=0.1751;ExAC_NFE=0.1310;ExAC_OTH=0.1102;ExAC_SAS=0.0961;SIFT_score=0.073;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.959;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.995;MutationAssessor_pred=M;FATHMM_score=2.52;FATHMM_pred=T;phyloP100way_vertebrate=-1.781;phyloP20way_mammalian=0.092;SiPhy_29way_logOdds=1.265;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,94:182:99:2383,0,2582 1 152188176 rs77464974 G A 3820.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.094;DP=518;ExcessHet=3.0103;FS=0.567;MLEAC=1;MLEAF=0.5;MQ=41.69;MQRankSum=0.225;QD=7.39;ReadPosRankSum=-2.09;SOR=0.614;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.C5929T:p.R1977C;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.979773\x3bName\x3echr1:152216073;Repeat=.;avsnp150=rs77464974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2932;ExAC_AFR=0.3275;ExAC_AMR=0.2903;ExAC_EAS=0.0792;ExAC_FIN=0.3448;ExAC_NFE=0.3134;ExAC_OTH=0.2995;ExAC_SAS=0.2809;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.915;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.197;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.57;MutationAssessor_pred=N;FATHMM_score=4.7;FATHMM_pred=T;phyloP100way_vertebrate=-2.030;phyloP20way_mammalian=-1.113;SiPhy_29way_logOdds=7.956;gerp++gt2=.;CADD=1.064;CADD_Phred=11.02;ALLELE_END GT:AD:DP:GQ:PL 0/1:341,176:517:99:3849,0,8802 1 152191469 rs150298716 C T 3045.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.754;DP=190;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.004;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G2636A:p.G879D;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152219573;Repeat=.;avsnp150=rs150298716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0169;1000g2015aug_afr=.;1000g2015aug_amr=0.0303;1000g2015aug_all=0.00778754;esp6500siv2_all=0.0157;ExAC_ALL=0.0216;ExAC_AFR=0.0030;ExAC_AMR=0.0600;ExAC_EAS=0.0001;ExAC_FIN=0.0608;ExAC_NFE=0.0216;ExAC_OTH=0.0199;ExAC_SAS=0.0022;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.198;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=3.43;FATHMM_pred=T;phyloP100way_vertebrate=-0.471;phyloP20way_mammalian=-0.006;SiPhy_29way_logOdds=5.568;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,107:190:99:3074,0,2454 1 152191709 rs6662450 C G 8514.77 PASS AC=2;AF=1;AN=2;DP=249;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=0.83;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G2396C:p.S799T;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152219573;Repeat=.;avsnp150=rs6662450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.829;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.5519;1000g2015aug_all=0.531749;esp6500siv2_all=0.7264;ExAC_ALL=0.7062;ExAC_AFR=0.5120;ExAC_AMR=0.5248;ExAC_EAS=0.3894;ExAC_FIN=0.8246;ExAC_NFE=0.8285;ExAC_OTH=0.7219;ExAC_SAS=0.5783;SIFT_score=0.807;SIFT_pred=T;Polyphen2_HDIV_score=0.334;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.095;MutationAssessor_pred=M;FATHMM_score=3.47;FATHMM_pred=T;phyloP100way_vertebrate=-0.418;phyloP20way_mammalian=0.760;SiPhy_29way_logOdds=7.835;gerp++gt2=2.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,248:248:99:8543,745,0 1 152191879 rs10788828 G A 9660.77 PASS AC=2;AF=1;AN=2;DP=285;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=0.843;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.C2226T:p.H742H;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152219573;Repeat=.;avsnp150=rs10788828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.83;1000g2015aug_afr=0.528;1000g2015aug_amr=0.5576;1000g2015aug_all=0.560104;esp6500siv2_all=0.7489;ExAC_ALL=0.7143;ExAC_AFR=0.5783;ExAC_AMR=0.5271;ExAC_EAS=0.4128;ExAC_FIN=0.8243;ExAC_NFE=0.8290;ExAC_OTH=0.7269;ExAC_SAS=0.5802;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,284:284:99:9689,850,0 1 152192114 rs7520249 C T 5419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.429;DP=187;ExcessHet=3.0103;FS=5.413;MLEAC=1;MLEAF=0.5;MQ=57.79;MQRankSum=12.607;QD=29.3;ReadPosRankSum=4.331;SOR=1;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G1991A:p.R664Q;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs7520249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.83;1000g2015aug_afr=0.528;1000g2015aug_amr=0.5576;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=0.7143;ExAC_AFR=0.5783;ExAC_AMR=0.5271;ExAC_EAS=0.4131;ExAC_FIN=0.8246;ExAC_NFE=0.8290;ExAC_OTH=0.7269;ExAC_SAS=0.5802;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.835;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;phyloP100way_vertebrate=-3.080;phyloP20way_mammalian=-2.359;SiPhy_29way_logOdds=5.359;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,159:185:99:5448,0,385 1 152192163 rs61814943 G T 441.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.748;DP=168;ExcessHet=3.0103;FS=0.788;MLEAC=1;MLEAF=0.5;MQ=56.61;MQRankSum=-9.494;QD=2.66;ReadPosRankSum=5.928;SOR=0.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.C1942A:p.R648S;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs61814943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=9.061e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=5.994e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.45;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.49;MutationAssessor_pred=N;FATHMM_score=3.83;FATHMM_pred=T;phyloP100way_vertebrate=-7.842;phyloP20way_mammalian=-4.096;SiPhy_29way_logOdds=7.118;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:139,27:166:99:470,0,4559 1 152192219 rs79513582 G C 474.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.872;DP=163;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.1;MQRankSum=-6.851;QD=2.91;ReadPosRankSum=-1.21;SOR=0.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.C1886G:p.T629S;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs79513582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0011;ExAC_AFR=0.0014;ExAC_AMR=0.0007;ExAC_EAS=0.0077;ExAC_FIN=0.0002;ExAC_NFE=0.0005;ExAC_OTH=0.0011;ExAC_SAS=0.0003;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-1.845;MutationAssessor_pred=N;FATHMM_score=3.82;FATHMM_pred=T;phyloP100way_vertebrate=-2.595;phyloP20way_mammalian=-0.380;SiPhy_29way_logOdds=7.092;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:136,27:163:99:503,0,4316 1 152192293 rs7520375 C T 5486.77 PASS AC=2;AF=1;AN=2;DP=160;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.02;QD=34.29;SOR=0.718;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.G1812A:p.S604S;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs7520375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.83;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.5576;1000g2015aug_all=0.549121;esp6500siv2_all=0.7409;ExAC_ALL=0.7121;ExAC_AFR=0.5777;ExAC_AMR=0.5269;ExAC_EAS=0.3869;ExAC_FIN=0.8243;ExAC_NFE=0.8290;ExAC_OTH=0.7247;ExAC_SAS=0.5791;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,160:160:99:5515,480,0 1 152192395 rs61814946 G A 2319.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.468;DP=194;ExcessHet=3.0103;FS=1.126;MLEAC=1;MLEAF=0.5;MQ=59.57;MQRankSum=-0.75;QD=12.02;ReadPosRankSum=-0.674;SOR=0.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.C1710T:p.S570S;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs61814946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.183;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0946486;esp6500siv2_all=0.1070;ExAC_ALL=0.1363;ExAC_AFR=0.0230;ExAC_AMR=0.1077;ExAC_EAS=0.0992;ExAC_FIN=0.1374;ExAC_NFE=0.1437;ExAC_OTH=0.1344;ExAC_SAS=0.2165;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:108,85:193:99:2348,0,3067 1 152192631 rs6587647 C T 10039.8 PASS AC=2;AF=1;AN=2;DP=302;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.24;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G1474A:p.G492R;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.83;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.5576;1000g2015aug_all=0.559904;esp6500siv2_all=0.7490;ExAC_ALL=0.7142;ExAC_AFR=0.5772;ExAC_AMR=0.5270;ExAC_EAS=0.4129;ExAC_FIN=0.8243;ExAC_NFE=0.8290;ExAC_OTH=0.7269;ExAC_SAS=0.5803;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.105;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.77;MutationAssessor_pred=L;FATHMM_score=3.37;FATHMM_pred=T;phyloP100way_vertebrate=-3.280;phyloP20way_mammalian=-0.832;SiPhy_29way_logOdds=8.767;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,302:302:99:10068,906,0 1 152192687 rs6587648 T C 9264.77 PASS AC=2;AF=1;AN=2;DP=275;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=0.745;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.A1418G:p.E473G;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.9841;1000g2015aug_all=0.942492;esp6500siv2_all=0.9503;ExAC_ALL=0.9857;ExAC_AFR=0.8434;ExAC_AMR=0.9947;ExAC_EAS=0.9997;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9901;ExAC_SAS=0.9998;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.905;MutationAssessor_pred=N;FATHMM_score=4.63;FATHMM_pred=T;phyloP100way_vertebrate=-0.100;phyloP20way_mammalian=-0.577;SiPhy_29way_logOdds=6.671;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,275:275:99:9293,825,0 1 152192825 rs6666097 C T 3270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.032;DP=265;ExcessHet=3.0103;FS=2.726;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.527;SOR=0.571;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G1280A:p.G427D;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6666097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5855;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.2795;1000g2015aug_all=0.345447;esp6500siv2_all=0.4789;ExAC_ALL=0.4962;ExAC_AFR=0.2507;ExAC_AMR=0.2859;ExAC_EAS=0.3500;ExAC_FIN=0.6308;ExAC_NFE=0.5938;ExAC_OTH=0.5055;ExAC_SAS=0.4261;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.895;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.356;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.395;MutationAssessor_pred=M;FATHMM_score=3.69;FATHMM_pred=T;phyloP100way_vertebrate=-2.616;phyloP20way_mammalian=0.756;SiPhy_29way_logOdds=3.523;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:154,111:265:99:3299,0,4401 1 152192978 rs6587649 T C 10545.8 PASS AC=2;AF=1;AN=2;DP=307;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.46;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.A1127G:p.Q376R;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.9841;1000g2015aug_all=0.942292;esp6500siv2_all=0.9503;ExAC_ALL=0.9858;ExAC_AFR=0.8434;ExAC_AMR=0.9947;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9901;ExAC_SAS=0.9998;SIFT_score=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.66;MutationAssessor_pred=L;FATHMM_score=4.04;FATHMM_pred=T;phyloP100way_vertebrate=-3.176;phyloP20way_mammalian=-2.900;SiPhy_29way_logOdds=8.919;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,306:306:99:10574,919,0 1 152193052 rs6587650 A G 10279.8 PASS AC=2;AF=1;AN=2;DP=305;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.7;SOR=0.74;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.T1053C:p.H351H;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.9784;1000g2015aug_all=0.914736;esp6500siv2_all=0.9170;ExAC_ALL=0.9765;ExAC_AFR=0.7435;ExAC_AMR=0.9915;ExAC_EAS=0.9986;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9846;ExAC_SAS=0.9982;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,305:305:99:10308,915,0 1 152193121 rs6587651 G T 10485.8 PASS AC=2;AF=1;AN=2;DP=307;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=0.923;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.C984A:p.G328G;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.83;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.5576;1000g2015aug_all=0.549321;esp6500siv2_all=0.7486;ExAC_ALL=0.7125;ExAC_AFR=0.5777;ExAC_AMR=0.5273;ExAC_EAS=0.3897;ExAC_FIN=0.8243;ExAC_NFE=0.8291;ExAC_OTH=0.7241;ExAC_SAS=0.5790;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,306:306:99:10514,919,0 1 152193286 rs7545406 G T 4312.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.396;DP=275;ExcessHet=3.0103;FS=1.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-1.098;SOR=0.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.C819A:p.H273Q;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs7545406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5855;1000g2015aug_afr=0.2088;1000g2015aug_amr=0.2795;1000g2015aug_all=0.345847;esp6500siv2_all=0.4801;ExAC_ALL=0.4964;ExAC_AFR=0.2538;ExAC_AMR=0.2861;ExAC_EAS=0.3485;ExAC_FIN=0.6308;ExAC_NFE=0.5937;ExAC_OTH=0.5066;ExAC_SAS=0.4261;SIFT_score=0.237;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.825;MutationAssessor_pred=L;FATHMM_score=4.09;FATHMM_pred=T;phyloP100way_vertebrate=-2.345;phyloP20way_mammalian=-3.409;SiPhy_29way_logOdds=0.981;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:123,152:275:99:4341,0,3479 1 152193291 rs6587652 G T 10614.8 PASS AC=2;AF=1;AN=2;DP=267;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.933;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.C814A:p.R272R;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.919886\x3bName\x3echr1:152218175;Repeat=.;avsnp150=rs6587652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.83;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.5576;1000g2015aug_all=0.560104;esp6500siv2_all=0.7488;ExAC_ALL=0.7141;ExAC_AFR=0.5780;ExAC_AMR=0.5271;ExAC_EAS=0.4110;ExAC_FIN=0.8243;ExAC_NFE=0.8290;ExAC_OTH=0.7269;ExAC_SAS=0.5802;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,267:267:99:10643,805,0 1 152193544 rs7535536 A G 7863.77 PASS AC=2;AF=1;AN=2;DP=177;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.89;SOR=1.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.T561C:p.H187H;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.829;1000g2015aug_afr=0.469;1000g2015aug_amr=0.5519;1000g2015aug_all=0.531949;esp6500siv2_all=0.7265;ExAC_ALL=0.7062;ExAC_AFR=0.5122;ExAC_AMR=0.5246;ExAC_EAS=0.3890;ExAC_FIN=0.8243;ExAC_NFE=0.8285;ExAC_OTH=0.7219;ExAC_SAS=0.5787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,177:177:99:7892,536,0 1 152193547 rs6587653 G A 7765.77 PASS AC=2;AF=1;AN=2;DP=172;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=2.016;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HRNR:NM_001009931:exon3:c.C558T:p.S186S;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.9841;1000g2015aug_all=0.942292;esp6500siv2_all=0.9503;ExAC_ALL=0.9858;ExAC_AFR=0.8432;ExAC_AMR=0.9947;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9901;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,172:172:99:7794,527,0 1 152193851 rs11204937 C T 1016.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=exonic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HRNR:NM_001009931:exon3:c.G254A:p.R85H;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.829;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.5519;1000g2015aug_all=0.532548;esp6500siv2_all=0.7265;ExAC_ALL=0.7062;ExAC_AFR=0.5128;ExAC_AMR=0.5252;ExAC_EAS=0.3880;ExAC_FIN=0.8243;ExAC_NFE=0.8284;ExAC_OTH=0.7219;ExAC_SAS=0.5788;SIFT_score=0.402;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=3.31;FATHMM_pred=T;phyloP100way_vertebrate=0.506;phyloP20way_mammalian=-1.985;SiPhy_29way_logOdds=7.362;gerp++gt2=.;CADD=1.036;CADD_Phred=10.87;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1045,102,0 1 152193990 rs11204938 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=intronic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11204938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.829;1000g2015aug_afr=0.469;1000g2015aug_amr=0.5519;1000g2015aug_all=0.531949;esp6500siv2_all=0.7262;ExAC_ALL=0.7094;ExAC_AFR=0.5135;ExAC_AMR=0.5234;ExAC_EAS=0.3881;ExAC_FIN=0.8248;ExAC_NFE=0.8302;ExAC_OTH=0.7245;ExAC_SAS=0.5517;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 152195359 rs4845426 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=intronic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420707.5,ENST00000368801.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.5092;1000g2015aug_eur=0.831;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.5533;1000g2015aug_all=0.528554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 152195428 rs4845427 C A 119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.231;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHRNR;Func=intronic;Gene=NM_001009931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368801.2,ENST00000420707.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0879;1000g2015aug_all=0.095647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:148,0,106 1 152286126 rs11582620 A G 2216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.435;DP=171;ExcessHet=3.0103;FS=4.437;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.32;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLG,FLG-AS1;Func=exonic;Gene=NM_002016;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FLG:NM_002016:exon3:c.T1236C:p.R412R;Gencode=Name\x3eENST00000368799.1,ENST00000420707.5,ENST00000392688.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.929016\x3bName\x3echr1:152303355;Repeat=.;avsnp150=rs11582620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0778;1000g2015aug_all=0.0860623;esp6500siv2_all=0.0843;ExAC_ALL=0.1176;ExAC_AFR=0.0182;ExAC_AMR=0.0987;ExAC_EAS=0.1015;ExAC_FIN=0.1346;ExAC_NFE=0.1158;ExAC_OTH=0.1278;ExAC_SAS=0.2019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,84:171:99:2245,0,2505 1 152324002 rs141384852 T C 3820.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.497;DP=282;ExcessHet=3.0103;FS=4.658;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.709;SOR=0.778;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLG-AS1,FLG2;Func=exonic;Gene=NM_001014342;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FLG2:NM_001014342:exon3:c.A6260G:p.H2087R;Gencode=Name\x3eENST00000388718.5,ENST00000445097.2,ENST00000392688.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141384852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0101;1000g2015aug_all=0.00479233;esp6500siv2_all=0.0038;ExAC_ALL=0.0068;ExAC_AFR=0.0012;ExAC_AMR=0.0097;ExAC_EAS=0;ExAC_FIN=0.0008;ExAC_NFE=0.0057;ExAC_OTH=0.0121;ExAC_SAS=0.0187;SIFT_score=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.99;MutationAssessor_pred=L;FATHMM_score=1.18;FATHMM_pred=T;phyloP100way_vertebrate=0.107;phyloP20way_mammalian=-0.291;SiPhy_29way_logOdds=4.430;gerp++gt2=2.29;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:142,138:280:99:3849,0,3848 1 152329369 rs2282302 C G 1082.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.699;DP=103;ExcessHet=3.0103;FS=6.478;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.229;SOR=1.064;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLG2,FLG-AS1;Func=exonic;Gene=NM_001014342;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FLG2:NM_001014342:exon3:c.G893C:p.C298S;Gencode=Name\x3eENST00000388718.5,ENST00000445097.2,ENST00000392688.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.2305;1000g2015aug_all=0.136581;esp6500siv2_all=0.1440;ExAC_ALL=0.1789;ExAC_AFR=0.0320;ExAC_AMR=0.2291;ExAC_EAS=0.1919;ExAC_FIN=0.2032;ExAC_NFE=0.1959;ExAC_OTH=0.1938;ExAC_SAS=0.1503;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.965;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.656;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=0.966;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=5.64;FATHMM_pred=T;phyloP100way_vertebrate=-0.172;phyloP20way_mammalian=-0.340;SiPhy_29way_logOdds=7.677;gerp++gt2=2.4;CADD=1.624;CADD_Phred=13.98;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,40:103:99:1111,0,1845 1 152384833 rs1923492 T C 719.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRNN;Func=intronic;Gene=NM_016190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271835.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1923492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.9509;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.8862;1000g2015aug_all=0.876797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:748,66,0 1 152384945 rs1923491 G A 156.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRNN;Func=intronic;Gene=NM_016190;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271835.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e600\x3bName\x3e"266356:MIR(SINE)";avsnp150=rs1923491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.668;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.4885;1000g2015aug_all=0.511382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:185,15,0 1 152421046 rs1885529 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016190,NM_178438;GeneDetail=dist\x3e34296\x3bdist\x3e62274;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e624\x3bName\x3e"266407:L2a(LINE)";avsnp150=rs1885529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.659;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.6095;1000g2015aug_all=0.672324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 152484129 rs2105117 G A 1405.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.28;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE5A;Func=exonic;Gene=NM_178438;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LCE5A:NM_178438:exon2:c.G119A:p.C40Y;Gencode=Name\x3eENST00000334269.2,ENST00000617545.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2105117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6111;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.5346;1000g2015aug_all=0.521965;esp6500siv2_all=0.5362;ExAC_ALL=0.6103;ExAC_AFR=0.3374;ExAC_AMR=0.5733;ExAC_EAS=0.6628;ExAC_FIN=0.7317;ExAC_NFE=0.6504;ExAC_OTH=0.6454;ExAC_SAS=0.5684;SIFT_score=0.024;SIFT_pred=D;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.165;MutationAssessor_pred=M;FATHMM_score=3.74;FATHMM_pred=T;phyloP100way_vertebrate=0.326;phyloP20way_mammalian=0.545;SiPhy_29way_logOdds=4.283;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1434,134,0 1 152487979 rs2282296 C T 981.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRCT1;Func=exonic;Gene=NM_019060;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRCT1:NM_019060:exon2:c.C120T:p.C40C;Gencode=Name\x3eENST00000617545.1,ENST00000368790.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"266527:(CCT)n(Simple_repeat)";avsnp150=rs2282296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.5245;1000g2015aug_all=0.479633;esp6500siv2_all=0.5673;ExAC_ALL=0.6420;ExAC_AFR=0.2644;ExAC_AMR=0.6086;ExAC_EAS=0.6948;ExAC_FIN=0.7608;ExAC_NFE=0.6827;ExAC_OTH=0.6728;ExAC_SAS=0.5951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1010,93,0 1 152488063 rs1053588 C T 592.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRCT1;Func=exonic;Gene=NM_019060;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRCT1:NM_019060:exon2:c.C204T:p.R68R;Gencode=Name\x3eENST00000368790.3,ENST00000617545.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1053588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.5476;1000g2015aug_all=0.585064;esp6500siv2_all=0.6402;ExAC_ALL=0.6949;ExAC_AFR=0.6248;ExAC_AMR=0.6629;ExAC_EAS=0.7383;ExAC_FIN=0.7962;ExAC_NFE=0.7157;ExAC_OTH=0.7045;ExAC_SAS=0.6174;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:621,57,0 1 152534191 rs4074613 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_019060,NM_178435;GeneDetail=dist\x3e45710\x3bdist\x3e3984;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617545.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4074613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.817;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.5749;1000g2015aug_all=0.578674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 152552285 rs512208 C A 980.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.732;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.21;MQRankSum=-1.356;QD=11.68;ReadPosRankSum=-0.627;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE3D;Func=exonic;Gene=NM_032563;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LCE3D:NM_032563:exon2:c.G128T:p.G43V;Gencode=Name\x3eENST00000368787.3,ENST00000617545.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.896052\x3bName\x3echr1:152565649;Repeat=.;avsnp150=rs512208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2853;1000g2015aug_all=0.276757;esp6500siv2_all=0.3021;ExAC_ALL=0.3184;ExAC_AFR=0.1666;ExAC_AMR=0.2363;ExAC_EAS=0.3185;ExAC_FIN=0.3689;ExAC_NFE=0.3602;ExAC_OTH=0.3046;ExAC_SAS=0.2827;SIFT_score=0.081;SIFT_pred=T;Polyphen2_HDIV_score=0.44;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.169;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.74;FATHMM_pred=T;phyloP100way_vertebrate=-0.121;phyloP20way_mammalian=-0.386;SiPhy_29way_logOdds=6.436;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,40:84:99:1009,0,1319 1 152552461 rs4845313 C A 633.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.299;DP=35;ExcessHet=3.0103;FS=1.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.667;SOR=1.568;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE3D;Func=intronic;Gene=NM_032563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368787.3,ENST00000617545.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.896052\x3bName\x3echr1:152565649;Repeat=.;avsnp150=rs4845313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.3012;1000g2015aug_all=0.232228;esp6500siv2_all=0.2147;ExAC_ALL=0.2798;ExAC_AFR=0.1032;ExAC_AMR=0.3590;ExAC_EAS=0.2825;ExAC_FIN=0.2872;ExAC_NFE=0.2759;ExAC_OTH=0.2639;ExAC_SAS=0.3492;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:662,0,419 1 152598168 rs1474169 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_178431,NR_145430;GeneDetail=dist\x3e2589\x3bdist\x3e29785;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1474169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3857;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.3069;1000g2015aug_all=0.349441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 152636843 rs9793541 A T 1067.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.355;DP=75;ExcessHet=3.0103;FS=9.879;MLEAC=1;MLEAF=0.5;MQ=59.96;MQRankSum=-0.884;QD=14.24;ReadPosRankSum=0.979;SOR=0.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE2D;Func=exonic;Gene=NM_178430;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LCE2D:NM_178430:exon2:c.A262T:p.S88C;Gencode=Name\x3eENST00000368784.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9793541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.1585;1000g2015aug_all=0.124601;esp6500siv2_all=0.2139;ExAC_ALL=0.2081;ExAC_AFR=0.0538;ExAC_AMR=0.1213;ExAC_EAS=0.0267;ExAC_FIN=0.2156;ExAC_NFE=0.2832;ExAC_OTH=0.1875;ExAC_SAS=0.1500;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.805;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.123;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.4;MutationAssessor_pred=M;FATHMM_score=3.35;FATHMM_pred=T;phyloP100way_vertebrate=0.445;phyloP20way_mammalian=0.025;SiPhy_29way_logOdds=4.694;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,41:75:99:1096,0,962 1 152637150 rs1855080 A T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.135;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_178430;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1855080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.3047;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.77;1000g2015aug_amr=0.3357;1000g2015aug_all=0.454273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 152659194 rs35748742 G T 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.9;MQRankSum=0;QD=18.36;ReadPosRankSum=-0.619;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE2B;Func=intronic;Gene=NM_014357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368780.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35748742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.1585;1000g2015aug_all=0.123403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:322,0,244 1 152659805 rs41310873 G A 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.95;DP=24;ExcessHet=3.0103;FS=5.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.464;SOR=0.113;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE2B;Func=UTR3;Gene=NM_014357;GeneDetail=NM_014357:c.*153G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368780.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41310873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.1599;1000g2015aug_all=0.140974;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:285,0,431 1 152659848 rs41308367 A G 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.7;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE2B;Func=UTR3;Gene=NM_014357;GeneDetail=NM_014357:c.*196A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368780.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41308367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.1614;1000g2015aug_all=0.143371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:147,0,179 1 152691943 rs1332499 G A 2351.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=2.173;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001024679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2380,210,0 1 152692074 rs1332500 G C 5440.77 PASS AC=2;AF=1;AN=2;DP=168;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=1.017;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf68;Func=exonic;Gene=NM_001024679;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf68:NM_001024679:exon1:c.G77C:p.S26T;Gencode=Name\x3eENST00000368775.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349241;esp6500siv2_all=.;ExAC_ALL=0.3068;ExAC_AFR=0.5303;ExAC_AMR=0.3478;ExAC_EAS=0.1474;ExAC_FIN=0.3021;ExAC_NFE=0.3323;ExAC_OTH=0.2172;ExAC_SAS=0.2259;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.724;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.595;MutationAssessor_pred=N;FATHMM_score=1.88;FATHMM_pred=T;phyloP100way_vertebrate=0.424;phyloP20way_mammalian=-0.964;SiPhy_29way_logOdds=2.919;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,168:168:99:5469,503,0 1 152692472 rs873775 A C 4945.77 PASS AC=2;AF=1;AN=2;DP=149;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=0.734;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf68;Func=exonic;Gene=NM_001024679;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf68:NM_001024679:exon1:c.A475C:p.T159P;Gencode=Name\x3eENST00000368775.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs873775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349241;esp6500siv2_all=0.3958;ExAC_ALL=0.3045;ExAC_AFR=0.5265;ExAC_AMR=0.3463;ExAC_EAS=0.1486;ExAC_FIN=0.3011;ExAC_NFE=0.3308;ExAC_OTH=0.2190;ExAC_SAS=0.2259;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.4;MutationAssessor_pred=N;FATHMM_score=2.23;FATHMM_pred=T;phyloP100way_vertebrate=2.089;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=12.041;gerp++gt2=5.4;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,149:149:99:4974,447,0 1 152692588 rs944682 A G 5073.77 PASS AC=2;AF=1;AN=2;DP=151;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=0.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf68;Func=exonic;Gene=NM_001024679;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf68:NM_001024679:exon1:c.A591G:p.S197S;Gencode=Name\x3eENST00000368775.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs944682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349241;esp6500siv2_all=0.3955;ExAC_ALL=0.3025;ExAC_AFR=0.5218;ExAC_AMR=0.3463;ExAC_EAS=0.1463;ExAC_FIN=0.2999;ExAC_NFE=0.3294;ExAC_OTH=0.2172;ExAC_SAS=0.2260;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,150:150:99:5102,451,0 1 152692781 rs3814350 G T 3355.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=0.946;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf68;Func=UTR3;Gene=NM_001024679;GeneDetail=NM_001024679:c.*31G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368775.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349241;esp6500siv2_all=0.3947;ExAC_ALL=0.3646;ExAC_AFR=0.5371;ExAC_AMR=0.3772;ExAC_EAS=0.1534;ExAC_FIN=0.2978;ExAC_NFE=0.3594;ExAC_OTH=0.2286;ExAC_SAS=0.3138;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3384,312,0 1 152692862 rs3814351 G C 1901.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf68;Func=UTR3;Gene=NM_001024679;GeneDetail=NM_001024679:c.*112G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368775.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1930,168,0 1 152692948 rs3814352 T A 1291.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001024679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1320,90,0 1 152692952 rs3814353 G A 1231.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001024679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.3804;1000g2015aug_all=0.349441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1260,84,0 1 152710165 rs11588950 G T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001024679,NM_001025231;GeneDetail=dist\x3e17260\x3bdist\x3e20341;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615904.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.2565;1000g2015aug_all=0.26857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 152732436 rs4845480 G C 3026.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKPRP;Func=exonic;Gene=NM_001025231;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KPRP:NM_001025231:exon2:c.G372C:p.A124A;Gencode=Name\x3eENST00000615904.1,ENST00000606109.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.4914;1000g2015aug_all=0.490415;esp6500siv2_all=0.5198;ExAC_ALL=0.4813;ExAC_AFR=0.5466;ExAC_AMR=0.4658;ExAC_EAS=0.4197;ExAC_FIN=0.4504;ExAC_NFE=0.4958;ExAC_OTH=0.4659;ExAC_SAS=0.4377;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:3055,261,0 1 152733301 rs4329520 T A 6687.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=0.184;DP=202;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.11;ReadPosRankSum=1.149;SOR=0.261;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKPRP;Func=exonic;Gene=NM_001025231;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KPRP:NM_001025231:exon2:c.T1237A:p.C413S;Gencode=Name\x3eENST00000615904.1,ENST00000606109.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"266854:(GTCCAC)n(Simple_repeat)";avsnp150=rs4329520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.5787;1000g2015aug_amr=0.4914;1000g2015aug_all=0.490216;esp6500siv2_all=0.5199;ExAC_ALL=0.4814;ExAC_AFR=0.5467;ExAC_AMR=0.4659;ExAC_EAS=0.4198;ExAC_FIN=0.4508;ExAC_NFE=0.4959;ExAC_OTH=0.4658;ExAC_SAS=0.4378;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.461;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=0.340;gerp++gt2=.;CADD=1.375;CADD_Phred=12.66;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,201:202:99:6716,575,0 1 152758766 rs41268484 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1E;Func=UTR5;Gene=NM_178353;GeneDetail=NM_178353:c.-1010G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368770.3,ENST00000615904.1,ENST00000368771.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41268484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.202;1000g2015aug_amr=0.2291;1000g2015aug_all=0.195687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 152759678 rs1034109 C T 1410.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=2.476;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1E;Func=intronic;Gene=NM_178353;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615904.1,ENST00000368770.3,ENST00000368771.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1034109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.5;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.5058;1000g2015aug_all=0.536542;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1439,123,0 1 152759950 rs11205106 A G 2625.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.84;QD=34.18;SOR=1.073;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1E;Func=exonic;Gene=NM_178353;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LCE1E:NM_178353:exon2:c.A175G:p.S59G;Gencode=Name\x3eENST00000368770.3,ENST00000615904.1,ENST00000368771.1,ENST00000619588.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.963755\x3bName\x3echr1:152797703;Repeat=.;avsnp150=rs11205106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4097;1000g2015aug_sas=0.4172;1000g2015aug_eur=0.5;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.5058;1000g2015aug_all=0.535743;esp6500siv2_all=0.5614;ExAC_ALL=0.4907;ExAC_AFR=0.7200;ExAC_AMR=0.4670;ExAC_EAS=0.4003;ExAC_FIN=0.4477;ExAC_NFE=0.4890;ExAC_OTH=0.4690;ExAC_SAS=0.4378;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=3.85;FATHMM_pred=T;phyloP100way_vertebrate=0.063;phyloP20way_mammalian=-0.949;SiPhy_29way_logOdds=4.490;gerp++gt2=.;CADD=0.915;CADD_Phred=10.16;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2654,216,0 1 152777465 rs1048535 A G 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.51;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1C;Func=UTR3;Gene=NM_001276331,NM_178351;GeneDetail=NM_001276331:c.*133T>C\x3bNM_178351:c.*133T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615904.1,ENST00000607093.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.2262;1000g2015aug_all=0.186701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 152777868 rs36107483 A G 2548.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.99;QD=33.1;SOR=2.66;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1C;Func=exonic;Gene=NM_178351;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LCE1C:NM_178351:exon2:c.T87C:p.C29C;Gencode=Name\x3eENST00000615904.1,ENST00000607093.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36107483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.2262;1000g2015aug_all=0.186901;esp6500siv2_all=0.2867;ExAC_ALL=0.2648;ExAC_AFR=0.1808;ExAC_AMR=0.1504;ExAC_EAS=0.0315;ExAC_FIN=0.2790;ExAC_NFE=0.3478;ExAC_OTH=0.2439;ExAC_SAS=0.1804;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2577,229,0 1 152777964 rs17624493 G A 3722.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1C;Func=UTR5;Gene=NM_001276331,NM_178351;GeneDetail=NM_001276331:c.-10C>T\x3bNM_178351:c.-10C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615904.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17624493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.2176;1000g2015aug_all=0.159744;esp6500siv2_all=0.2633;ExAC_ALL=0.2586;ExAC_AFR=0.1046;ExAC_AMR=0.1469;ExAC_EAS=0.0315;ExAC_FIN=0.2779;ExAC_NFE=0.3485;ExAC_OTH=0.2411;ExAC_SAS=0.1834;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3751,360,0 1 152778118 rs35436039 G A 898.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1C;Func=intronic;Gene=NM_001276331,NM_178351;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615904.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35436039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.2565;1000g2015aug_all=0.258586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:927,69,0 1 152800348 rs75174223 G C 930.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.909;DP=84;ExcessHet=3.0103;FS=0.833;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.135;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLCE1A;Func=UTR3;Gene=NM_178348;GeneDetail=NM_178348:c.*67G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335123.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75174223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,38:84:99:959,0,1294 1 152827007 rs773909137 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001128600,NM_030663;GeneDetail=dist\x3e10548\x3bdist\x3e23791;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs773909137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 152827008 . G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001128600,NM_030663;GeneDetail=dist\x3e10549\x3bdist\x3e23790;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 152882135 rs11205132 A G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=1.51;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=intronic;Gene=NM_005547;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.413538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 152882610 rs2229496 A G 1605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.977;DP=113;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.034;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=exonic;Gene=NM_005547;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IVL:NM_005547:exon2:c.A337G:p.T113A;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.413738;esp6500siv2_all=0.2555;ExAC_ALL=0.2184;ExAC_AFR=0.6028;ExAC_AMR=0.3451;ExAC_EAS=0.5928;ExAC_FIN=0.0605;ExAC_NFE=0.0985;ExAC_OTH=0.1515;ExAC_SAS=0.2446;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.25;FATHMM_pred=T;phyloP100way_vertebrate=-0.791;phyloP20way_mammalian=-0.575;SiPhy_29way_logOdds=4.933;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,56:113:99:1634,0,1732 1 152882982 rs7520711 C G 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.522;DP=15;ExcessHet=3.0103;FS=2.081;MLEAC=1;MLEAF=0.5;MQ=53.19;MQRankSum=-0.061;QD=10.58;ReadPosRankSum=1.433;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=exonic;Gene=NM_005547;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IVL:NM_005547:exon2:c.C709G:p.Q237E;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.6944;1000g2015aug_amr=0.3112;1000g2015aug_all=0.424321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.04;MutationAssessor_pred=N;FATHMM_score=3.13;FATHMM_pred=T;phyloP100way_vertebrate=-2.266;phyloP20way_mammalian=-3.003;SiPhy_29way_logOdds=3.083;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:187,0,149 1 152883608 rs7545413 G A 587.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.106;DP=45;ExcessHet=3.0103;FS=2.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.273;SOR=1.338;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=exonic;Gene=NM_005547;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IVL:NM_005547:exon2:c.G1335A:p.Q445Q;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.41234;esp6500siv2_all=0.2448;ExAC_ALL=0.2905;ExAC_AFR=0.6198;ExAC_AMR=0.3519;ExAC_EAS=0.6484;ExAC_FIN=0.2109;ExAC_NFE=0.1391;ExAC_OTH=0.1934;ExAC_SAS=0.2446;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,21:45:99:616,0,663 1 152883680 rs7535306 A G 901.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.106;DP=61;ExcessHet=3.0103;FS=5.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.828;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=exonic;Gene=NM_005547;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IVL:NM_005547:exon2:c.A1407G:p.Q469Q;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.413538;esp6500siv2_all=0.2448;ExAC_ALL=0.2870;ExAC_AFR=0.6175;ExAC_AMR=0.3480;ExAC_EAS=0.6273;ExAC_FIN=0.1351;ExAC_NFE=0.1384;ExAC_OTH=0.2130;ExAC_SAS=0.2538;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,34:61:99:930,0,688 1 152883711 rs7545520 G C 971.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.336;DP=68;ExcessHet=3.0103;FS=4.861;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.48;SOR=1.341;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=exonic;Gene=NM_005547;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IVL:NM_005547:exon2:c.G1438C:p.V480L;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.41234;esp6500siv2_all=0.2433;ExAC_ALL=0.2679;ExAC_AFR=0.6052;ExAC_AMR=0.3292;ExAC_EAS=0.6072;ExAC_FIN=0.108;ExAC_NFE=0.1272;ExAC_OTH=0.2026;ExAC_SAS=0.2403;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.75;MutationAssessor_pred=N;FATHMM_score=3.1;FATHMM_pred=T;phyloP100way_vertebrate=-1.046;phyloP20way_mammalian=-0.996;SiPhy_29way_logOdds=6.949;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,37:68:99:1000,0,784 1 152884111 rs913996 G A 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.485;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.492;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=UTR3;Gene=NM_005547;GeneDetail=NM_005547:c.*80G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs913996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6785;1000g2015aug_amr=0.2997;1000g2015aug_all=0.411741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:571,0,432 1 152884246 rs12407682 G T 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=UTR3;Gene=NM_005547;GeneDetail=NM_005547:c.*215G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.41234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:64:123,0,64 1 152884247 rs12406539 A G 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIVL;Func=UTR3;Gene=NM_005547;GeneDetail=NM_005547:c.*216A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368764.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12406539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.2997;1000g2015aug_all=0.41234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:64:123,0,64 1 152933960 rs6587715 T C 59.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005547,NM_173080;GeneDetail=dist\x3e49598\x3bdist\x3e9169;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e808\x3bName\x3e"267174:MLT1I(LTR)";avsnp150=rs6587715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.8228;1000g2015aug_all=0.881789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:87,9,0 1 152944594 rs3170863 C T 2615.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR4;Func=exonic;Gene=NM_173080;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPRR4:NM_173080:exon2:c.C228T:p.S76S;Gencode=Name\x3eENST00000328051.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3170863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.4986;1000g2015aug_all=0.6252;esp6500siv2_all=0.6410;ExAC_ALL=0.5686;ExAC_AFR=0.7981;ExAC_AMR=0.4833;ExAC_EAS=0.6712;ExAC_FIN=0.4299;ExAC_NFE=0.5685;ExAC_OTH=0.5177;ExAC_SAS=0.4886;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2644,234,0 1 152957573 rs1611760 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.204;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=intronic;Gene=NM_001199828,NM_005987;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1611760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.4597;1000g2015aug_all=0.588259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,153 1 152957832 rs1611762 C A 1117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.484;DP=79;ExcessHet=3.0103;FS=5.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.042;SOR=0.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=exonic;Gene=NM_001199828,NM_005987;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPRR1A:NM_001199828:exon2:c.C126A:p.H42Q,SPRR1A:NM_005987:exon2:c.C126A:p.H42Q;Gencode=Name\x3eENST00000368762.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1611762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.4395;1000g2015aug_all=0.505391;esp6500siv2_all=.;ExAC_ALL=0.4921;ExAC_AFR=0.4938;ExAC_AMR=0.4073;ExAC_EAS=0.5694;ExAC_FIN=0.4681;ExAC_NFE=0.5014;ExAC_OTH=0.4740;ExAC_SAS=0.4842;SIFT_score=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.166;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.056;Polyphen2_HVAR_pred=B;LRT_score=0.442;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.57;FATHMM_pred=T;phyloP100way_vertebrate=0.175;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=7.354;gerp++gt2=.;CADD=1.922;CADD_Phred=15.72;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,42:79:99:1146,0,1098 1 152957887 rs1611764 G A 1281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.304;DP=90;ExcessHet=3.0103;FS=5.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.971;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=exonic;Gene=NM_001199828,NM_005987;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPRR1A:NM_001199828:exon2:c.G181A:p.V61I,SPRR1A:NM_005987:exon2:c.G181A:p.V61I;Gencode=Name\x3eENST00000368762.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1611764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.502;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.6278;1000g2015aug_amr=0.4524;1000g2015aug_all=0.561102;esp6500siv2_all=0.5750;ExAC_ALL=0.5345;ExAC_AFR=0.6179;ExAC_AMR=0.4399;ExAC_EAS=0.6643;ExAC_FIN=0.4867;ExAC_NFE=0.5316;ExAC_OTH=0.5033;ExAC_SAS=0.5132;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.828;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.542;Polyphen2_HVAR_pred=P;LRT_score=0.817;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.48;FATHMM_pred=T;phyloP100way_vertebrate=1.060;phyloP20way_mammalian=-1.417;SiPhy_29way_logOdds=7.763;gerp++gt2=3.77;CADD=3.666;CADD_Phred=23.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,42:90:99:1310,0,1343 1 152958165 rs1611768 C T 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.368;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.76;ReadPosRankSum=0.771;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=UTR3;Gene=NM_001199828,NM_005987;GeneDetail=NM_001199828:c.*189C>T\x3bNM_005987:c.*189C>T;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1611768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.0388;1000g2015aug_afr=.;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0165735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:402,0,226 1 152958238 rs1129654 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=UTR3;Gene=NM_001199828,NM_005987;GeneDetail=NM_001199828:c.*262A>G\x3bNM_005987:c.*262A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1129654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.4597;1000g2015aug_all=0.588059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 152958267 rs1129655 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1A;Func=UTR3;Gene=NM_001199828,NM_005987;GeneDetail=NM_001199828:c.*291T>C\x3bNM_005987:c.*291T>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1129655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.4697;1000g2015aug_all=0.608427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 152975495 rs2075739 G A 812.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.06;DP=77;ExcessHet=3.0103;FS=2.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.124;SOR=0.423;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=UTR5;Gene=NM_001097589,NM_005416;GeneDetail=NM_001097589:c.-2G>A\x3bNM_005416:c.-2G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295367.4,ENST00000331860.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4337;1000g2015aug_all=0.52496;esp6500siv2_all=0.5372;ExAC_ALL=0.5337;ExAC_AFR=0.5203;ExAC_AMR=0.4416;ExAC_EAS=0.6746;ExAC_FIN=0.4958;ExAC_NFE=0.5368;ExAC_OTH=0.5089;ExAC_SAS=0.5366;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,33:77:99:841,0,1281 1 152975763 rs1977734 C A 1430.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.585;DP=68;ExcessHet=3.0103;FS=6.456;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=-0.608;SOR=0.554;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=exonic;Gene=NM_001097589,NM_005416;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPRR3:NM_001097589:exon2:c.C267A:p.G89G,SPRR3:NM_005416:exon3:c.C267A:p.G89G;Gencode=Name\x3eENST00000295367.4,ENST00000331860.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1977734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4323;1000g2015aug_all=0.524561;esp6500siv2_all=0.5368;ExAC_ALL=0.1596;ExAC_AFR=0.2236;ExAC_AMR=0.0635;ExAC_EAS=0.3024;ExAC_FIN=0.0444;ExAC_NFE=0.1725;ExAC_OTH=0.1677;ExAC_SAS=0.1312;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,39:68:99:1459,0,1034 1 152975829 rs1970328 A G 1832.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.274;DP=95;ExcessHet=3.0103;FS=3.868;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=-0.573;SOR=0.403;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=exonic;Gene=NM_001097589,NM_005416;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPRR3:NM_001097589:exon2:c.A333G:p.E111E,SPRR3:NM_005416:exon3:c.A333G:p.E111E;Gencode=Name\x3eENST00000331860.7,ENST00000295367.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1970328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4337;1000g2015aug_all=0.52496;esp6500siv2_all=0.5371;ExAC_ALL=0.5296;ExAC_AFR=0.5195;ExAC_AMR=0.4394;ExAC_EAS=0.6726;ExAC_FIN=0.4944;ExAC_NFE=0.5354;ExAC_OTH=0.5055;ExAC_SAS=0.5168;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,55:95:99:1861,0,1346 1 152975941 rs1055935 C G 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.159;DP=100;ExcessHet=3.0103;FS=1.635;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.63;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=exonic;Gene=NM_001097589,NM_005416;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPRR3:NM_001097589:exon2:c.C445G:p.L149V,SPRR3:NM_005416:exon3:c.C445G:p.L149V;Gencode=Name\x3eENST00000331860.7,ENST00000295367.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.4496;1000g2015aug_all=0.583466;esp6500siv2_all=0.5919;ExAC_ALL=0.5448;ExAC_AFR=0.6860;ExAC_AMR=0.4460;ExAC_EAS=0.6710;ExAC_FIN=0.4950;ExAC_NFE=0.5356;ExAC_OTH=0.5144;ExAC_SAS=0.5176;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.74;MutationAssessor_pred=N;FATHMM_score=3.17;FATHMM_pred=T;phyloP100way_vertebrate=0.010;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=1.562;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,47:98:99:1160,0,1393 1 152976108 rs1015996 C T 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.798;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=UTR3;Gene=NM_001097589,NM_005416;GeneDetail=NM_001097589:c.*102C>T\x3bNM_005416:c.*102C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295367.4,ENST00000331860.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1015996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4337;1000g2015aug_all=0.52496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:180,0,790 1 152976114 rs1015995 G C 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=0.794;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR3;Func=UTR3;Gene=NM_001097589,NM_005416;GeneDetail=NM_001097589:c.*108G>C\x3bNM_005416:c.*108G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331860.7,ENST00000295367.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1015995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4337;1000g2015aug_all=0.52496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:177,0,829 1 152996419 rs10788851 A G 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005416,NM_003125;GeneDetail=dist\x3e20087\x3bdist\x3e7260;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10788851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9891;1000g2015aug_afr=1;1000g2015aug_amr=0.9928;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 153004652 rs1334849 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=intronic;Gene=NM_003125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 153004721 rs1334848 A T 433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.193;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.51;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=intronic;Gene=NM_003125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:462,0,478 1 153004778 rs3820141 C T 539.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.024;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.231;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=intronic;Gene=NM_003125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=0.4911;ExAC_ALL=0.5045;ExAC_AFR=0.4660;ExAC_AMR=0.4340;ExAC_EAS=0.6328;ExAC_FIN=0.4637;ExAC_NFE=0.5068;ExAC_OTH=0.4837;ExAC_SAS=0.5226;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,24:62:99:568,0,1017 1 153004809 rs3181787 T C 927.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.56;DP=85;ExcessHet=3.0103;FS=0.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-2.029;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=UTR5;Gene=NM_003125;GeneDetail=NM_003125:c.-13T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3181787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=0.4965;ExAC_ALL=0.5058;ExAC_AFR=0.4648;ExAC_AMR=0.4348;ExAC_EAS=0.6322;ExAC_FIN=0.4636;ExAC_NFE=0.5078;ExAC_OTH=0.4821;ExAC_SAS=0.5269;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,38:85:99:956,0,1193 1 153004848 rs3795381 T C 1331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.558;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.184;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=exonic;Gene=NM_003125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPRR1B:NM_003125:exon2:c.T27C:p.P9P;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=0.4967;ExAC_ALL=0.5025;ExAC_AFR=0.4652;ExAC_AMR=0.4326;ExAC_EAS=0.6298;ExAC_FIN=0.4632;ExAC_NFE=0.5062;ExAC_OTH=0.4812;ExAC_SAS=0.5106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,36:83:99:1360,0,1813 1 153004853 rs3795382 C T 1302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.623;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.655;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=exonic;Gene=NM_003125;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPRR1B:NM_003125:exon2:c.C32T:p.T11I;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=0.4967;ExAC_ALL=0.5025;ExAC_AFR=0.4651;ExAC_AMR=0.4326;ExAC_EAS=0.6301;ExAC_FIN=0.4632;ExAC_NFE=0.5062;ExAC_OTH=0.4801;ExAC_SAS=0.5106;SIFT_score=0.333;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.62;FATHMM_pred=T;phyloP100way_vertebrate=-0.061;phyloP20way_mammalian=-2.475;SiPhy_29way_logOdds=8.066;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,35:80:99:1331,0,1784 1 153004983 rs12195 C T 673.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.851;DP=53;ExcessHet=3.0103;FS=2.38;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1.021;QD=12.71;ReadPosRankSum=0.285;SOR=1.167;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=exonic;Gene=NM_003125;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPRR1B:NM_003125:exon2:c.C162T:p.P54P;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.441;1000g2015aug_amr=0.4265;1000g2015aug_all=0.497604;esp6500siv2_all=0.5053;ExAC_ALL=0.5094;ExAC_AFR=0.4670;ExAC_AMR=0.4388;ExAC_EAS=0.6320;ExAC_FIN=0.4689;ExAC_NFE=0.5156;ExAC_OTH=0.4877;ExAC_SAS=0.5134;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,25:53:99:702,0,868 1 153005156 rs2711 C T 1026.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.002;DP=94;ExcessHet=3.0103;FS=0.776;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.474;SOR=0.717;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR1B;Func=UTR3;Gene=NM_003125;GeneDetail=NM_003125:c.*65C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307098.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.4251;1000g2015aug_all=0.49401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,44:94:99:1055,0,1330 1 153066262 rs1933388 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.263;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.09;MQRankSum=-3.037;QD=2.75;ReadPosRankSum=0.126;SOR=0.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR2E;Func=intronic;Gene=NM_001024209;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368751.1,ENST00000368750.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1933388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3692;ExAC_ALL=0.3811;ExAC_AFR=0.4508;ExAC_AMR=0.3245;ExAC_EAS=0.5243;ExAC_FIN=0.3145;ExAC_NFE=0.3614;ExAC_OTH=0.3592;ExAC_SAS=0.4109;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,3:17:75:75,0,434 1 153112806 rs2928 A C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR2C;Func=ncRNA_exonic;Gene=NR_003062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.3516;1000g2015aug_all=0.432308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 153122171 rs509194 G A 344.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR2G;Func=UTR3;Gene=NM_001014291;GeneDetail=NM_001014291:c.*194C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368748.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs509194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.5;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.4957;1000g2015aug_all=0.523762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:373,30,0 1 153122310 rs510277 G A 1740.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR2G;Func=UTR3;Gene=NM_001014291;GeneDetail=NM_001014291:c.*55C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368748.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs510277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5149;1000g2015aug_sas=0.5;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.208;1000g2015aug_amr=0.4294;1000g2015aug_all=0.426518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1769,163,0 1 153122620 rs513555 T C 2576.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRR2G;Func=intronic;Gene=NM_001014291;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368748.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs513555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.5;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.4957;1000g2015aug_all=0.523762;esp6500siv2_all=0.5474;ExAC_ALL=0.5433;ExAC_AFR=0.4949;ExAC_AMR=0.4815;ExAC_EAS=0.6665;ExAC_FIN=0.4692;ExAC_NFE=0.5639;ExAC_OTH=0.5265;ExAC_SAS=0.5001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2605,231,0 1 153133280 rs12402849 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.83;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001014291,NR_110685;GeneDetail=dist\x3e9853\x3bdist\x3e13714;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5635\x3bName\x3e"267442:L1PA4(LINE)";avsnp150=rs12402849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5149;1000g2015aug_sas=0.499;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.438;1000g2015aug_all=0.454273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153133281 rs12403756 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.83;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001014291,NR_110685;GeneDetail=dist\x3e9854\x3bdist\x3e13713;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5635\x3bName\x3e"267442:L1PA4(LINE)";avsnp150=rs12403756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.498;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.4294;1000g2015aug_all=0.438099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153233510 rs6661601 A G 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.197;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.317;SOR=0.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOR;Func=exonic;Gene=NM_000427;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LOR:NM_000427:exon2:c.A85G:p.S29G;Gencode=Name\x3eENST00000368742.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.3419;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.281;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=0.3123;ExAC_AFR=0.1342;ExAC_AMR=0.2733;ExAC_EAS=0.0803;ExAC_FIN=0.3739;ExAC_NFE=0.3840;ExAC_OTH=0.3195;ExAC_SAS=0.2452;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.794;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.4;FATHMM_pred=T;phyloP100way_vertebrate=0.362;phyloP20way_mammalian=-1.133;SiPhy_29way_logOdds=8.684;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:358,0,409 1 153234602 rs11205255 T C 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.464;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000427;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11205255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4841;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.7227;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.8127;1000g2015aug_all=0.707268;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 153270362 rs2771110 C G 847.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.644;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.74;ReadPosRankSum=2.253;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=UTR3;Gene=NM_052891;GeneDetail=NM_052891:c.*70G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2771110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.4841;1000g2015aug_all=0.541334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,27:39:99:876,0,350 1 153270857 rs2771111 T C 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.521;DP=13;ExcessHet=3.0103;FS=4.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.142;SOR=0.074;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2166\x3bName\x3e"267694:AluY(SINE)";avsnp150=rs2771111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.5447;1000g2015aug_all=0.596645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:136,0,295 1 153271524 rs821431 C T 525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.798;DP=35;ExcessHet=3.0103;FS=3.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.828;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs821431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5719;1000g2015aug_amr=0.5216;1000g2015aug_all=0.557508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:554,0,495 1 153277423 rs843971 C T 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.597;DP=80;ExcessHet=3.0103;FS=0.849;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.29;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=exonic;Gene=NM_052891;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PGLYRP3:NM_052891:exon3:c.G376A:p.G126S;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs843971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.385;1000g2015aug_amr=0.4553;1000g2015aug_all=0.469848;esp6500siv2_all=0.3849;ExAC_ALL=0.4235;ExAC_AFR=0.3820;ExAC_AMR=0.4984;ExAC_EAS=0.5301;ExAC_FIN=0.3857;ExAC_NFE=0.3792;ExAC_OTH=0.4490;ExAC_SAS=0.5360;SIFT_score=0.134;SIFT_pred=T;Polyphen2_HDIV_score=0.911;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.6;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.428;MutationTaster_pred=P;MutationAssessor_score=1.23;MutationAssessor_pred=L;FATHMM_score=2.6;FATHMM_pred=T;phyloP100way_vertebrate=2.546;phyloP20way_mammalian=0.855;SiPhy_29way_logOdds=12.509;gerp++gt2=4.48;CADD=4.453;CADD_Phred=24.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,43:80:99:1160,0,856 1 153277660 rs2771112 A T 539.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.405;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.082;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2771112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.6475;1000g2015aug_amr=0.5144;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:568,0,405 1 153277768 rs2570443 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.601;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2570443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.5144;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 153279274 rs1655319 A G 256.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.14;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.8064;1000g2015aug_amr=0.8285;1000g2015aug_all=0.819888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:285,21,0 1 153282892 rs821424 C T 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.379;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e391\x3bName\x3e"267713:MIRb(SINE)";avsnp150=rs821424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.5014;1000g2015aug_all=0.504393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,337 1 153283004 rs821423 C T 2405.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.55;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=intronic;Gene=NM_052891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs821423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.8732;1000g2015aug_all=0.84405;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2434,231,0 1 153283179 rs3006473 A G 1065.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.309;DP=60;ExcessHet=3.0103;FS=1.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-0.614;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP3;Func=UTR5;Gene=NM_052891;GeneDetail=NM_052891:c.-38T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000290722.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.272;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.3689;1000g2015aug_all=0.325479;esp6500siv2_all=0.4247;ExAC_ALL=0.3956;ExAC_AFR=0.3572;ExAC_AMR=0.2609;ExAC_EAS=0.2127;ExAC_FIN=0.4829;ExAC_NFE=0.4678;ExAC_OTH=0.3842;ExAC_SAS=0.2836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,38:60:99:1094,0,570 1 153303638 rs2987767 A G 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.893;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-1.314;SOR=0.313;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2987767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.508;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.3876;1000g2015aug_all=0.347644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:325,0,355 1 153309981 rs12139503 G A 239.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.379;DP=27;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.181;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359650.9,ENST00000368739.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.274;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.3617;1000g2015aug_all=0.306909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:268,0,493 1 153312644 rs2771122 A G 928.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2771122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8916;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.915;1000g2015aug_all=0.927516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:957,81,0 1 153313912 rs3014859 A G 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 153314153 rs3006448 C A 2372.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=exonic;Gene=NM_020393;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PGLYRP4:NM_020393:exon6:c.G575T:p.G192V;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.865;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.866;1000g2015aug_all=0.844449;esp6500siv2_all=0.8239;ExAC_ALL=0.8447;ExAC_AFR=0.7666;ExAC_AMR=0.8040;ExAC_EAS=0.8741;ExAC_FIN=0.8902;ExAC_NFE=0.8557;ExAC_OTH=0.8502;ExAC_SAS=0.8439;SIFT_score=0.217;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.099;LRT_pred=N;MutationTaster_score=0.842;MutationTaster_pred=P;MutationAssessor_score=-2.19;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;phyloP100way_vertebrate=0.997;phyloP20way_mammalian=-0.244;SiPhy_29way_logOdds=4.553;gerp++gt2=3.02;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2401,219,0 1 153314347 rs3006449 C T 654.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:683,54,0 1 153315579 rs3014863 A G 1442.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=exonic;Gene=NM_020393;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PGLYRP4:NM_020393:exon5:c.T459C:p.F153F;Gencode=Name\x3eENST00000359650.9,ENST00000368739.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.9135;1000g2015aug_all=0.927117;esp6500siv2_all=0.9334;ExAC_ALL=0.9059;ExAC_AFR=0.9774;ExAC_AMR=0.8475;ExAC_EAS=0.8746;ExAC_FIN=0.9090;ExAC_NFE=0.9125;ExAC_OTH=0.9097;ExAC_SAS=0.8904;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1471,135,0 1 153315784 rs1865234 T C 827.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359650.9,ENST00000368739.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1865234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9135;1000g2015aug_all=0.928115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:856,72,0 1 153317370 rs3006452 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359650.9,ENST00000368739.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e215\x3bName\x3e"267763:MIRc(SINE)";avsnp150=rs3006452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 153320159 rs2916207 G C 172.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e660\x3bName\x3e"267767:AluJb(SINE)";avsnp150=rs2916207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.866;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:201,18,0 1 153320334 rs3006457 T C 2972.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.866;1000g2015aug_all=0.84365;esp6500siv2_all=0.8227;ExAC_ALL=0.8435;ExAC_AFR=0.7657;ExAC_AMR=0.7997;ExAC_EAS=0.8732;ExAC_FIN=0.8874;ExAC_NFE=0.8545;ExAC_OTH=0.8593;ExAC_SAS=0.8438;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:3001,258,0 1 153320372 rs3006458 T G 3667.77 PASS AC=2;AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=1.397;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=exonic;Gene=NM_020393;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PGLYRP4:NM_020393:exon2:c.A37C:p.I13L;Gencode=Name\x3eENST00000359650.9,ENST00000368739.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794129;esp6500siv2_all=0.8082;ExAC_ALL=0.8239;ExAC_AFR=0.7291;ExAC_AMR=0.7888;ExAC_EAS=0.7222;ExAC_FIN=0.8745;ExAC_NFE=0.8497;ExAC_OTH=0.8289;ExAC_SAS=0.8355;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=3.93;FATHMM_pred=T;phyloP100way_vertebrate=0.186;phyloP20way_mammalian=0.011;SiPhy_29way_logOdds=2.058;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,116:116:99:3696,348,0 1 153320581 rs3006459 T C 1409.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=3.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e196\x3bName\x3e"267768:L2c(LINE)";avsnp150=rs3006459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.866;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1438,111,0 1 153320675 rs2916206 G A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e362\x3bName\x3e"267769:MIRb(SINE)";avsnp150=rs2916206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.866;1000g2015aug_all=0.84365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 153320755 rs2916205 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGLYRP4;Func=intronic;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368739.3,ENST00000359650.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e362\x3bName\x3e"267769:MIRb(SINE)";avsnp150=rs2916205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8588;1000g2015aug_all=0.794129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 153321483 rs3006462 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.866;1000g2015aug_all=0.84385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153321501 rs3006463 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.863;1000g2015aug_eur=0.8767;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.866;1000g2015aug_all=0.84385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153362788 rs41264638 T C 1627.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A8;Func=intronic;Gene=NM_001319196,NM_001319197,NM_001319198,NM_001319201,NM_002964;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368733.3,ENST00000368732.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.0654;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1571;1000g2015aug_all=0.091254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1656,141,0 1 153410822 rs10888561 C A 1137.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.61;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A7L2;Func=exonic;Gene=NM_001045479;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=S100A7L2:NM_001045479:exon2:c.G17T:p.G6V;Gencode=Name\x3eENST00000368725.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10888561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.5;1000g2015aug_amr=0.7061;1000g2015aug_all=0.614217;esp6500siv2_all=0.6674;ExAC_ALL=0.6923;ExAC_AFR=0.5257;ExAC_AMR=0.7495;ExAC_EAS=0.5647;ExAC_FIN=0.8026;ExAC_NFE=0.7362;ExAC_OTH=0.6973;ExAC_SAS=0.6017;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.36;FATHMM_pred=T;phyloP100way_vertebrate=-0.314;phyloP20way_mammalian=-2.280;SiPhy_29way_logOdds=2.972;gerp++gt2=.;CADD=2.660;CADD_Phred=20.6;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1166,96,0 1 153412392 rs3006428 T G 2752.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A7L2;Func=intronic;Gene=NM_001045479;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368725.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3006428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.831;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.8703;1000g2015aug_all=0.826078;esp6500siv2_all=0.8719;ExAC_ALL=0.7919;ExAC_AFR=0.9414;ExAC_AMR=0.8260;ExAC_EAS=0.7781;ExAC_FIN=0.9722;ExAC_NFE=0.8273;ExAC_OTH=0.7895;ExAC_SAS=0.7114;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2781,252,0 1 153431200 rs3014836 T C 1831.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.07;QD=33.92;SOR=2.48;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A7;Func=intronic;Gene=NM_002963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368722.5,ENST00000368723.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926545\x3bName\x3echr1:153402398;Repeat=Score\x3e227\x3bName\x3e"267963:MIRc(SINE)";avsnp150=rs3014836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.828;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.8689;1000g2015aug_all=0.82488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1860,162,0 1 153431406 rs3014837 C G 2584.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A7;Func=exonic;Gene=NM_002963;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=S100A7:NM_002963:exon2:c.G84C:p.E28D;Gencode=Name\x3eENST00000368723.3,ENST00000368722.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926545\x3bName\x3echr1:153402398;Repeat=.;avsnp150=rs3014837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9856;1000g2015aug_all=0.983427;esp6500siv2_all=0.9579;ExAC_ALL=0.9609;ExAC_AFR=0.9815;ExAC_AMR=0.9794;ExAC_EAS=1;ExAC_FIN=0.9651;ExAC_NFE=0.9441;ExAC_OTH=0.9581;ExAC_SAS=0.9805;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.275;MutationAssessor_pred=N;FATHMM_score=3.5;FATHMM_pred=T;phyloP100way_vertebrate=0.214;phyloP20way_mammalian=-1.265;SiPhy_29way_logOdds=9.678;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2613,240,0 1 153459971 rs7512616 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002963,NM_014624;GeneDetail=dist\x3e26834\x3bdist\x3e47105;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1696\x3bName\x3e"268025:AluJr(SINE)";avsnp150=rs7512616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.7219;1000g2015aug_all=0.627596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 153479905 rs28632016 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002963,NM_014624;GeneDetail=dist\x3e46768\x3bdist\x3e27171;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28632016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.8434;1000g2015aug_amr=0.8905;1000g2015aug_all=0.884385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 153479998 rs4845552 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002963,NM_014624;GeneDetail=dist\x3e46861\x3bdist\x3e27078;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e430\x3bName\x3e"268069:MIRb(SINE)";avsnp150=rs4845552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHippocampal_atrophy;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.8905;1000g2015aug_all=0.884984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 153484148 rs7534343 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002963,NM_014624;GeneDetail=dist\x3e51011\x3bdist\x3e22928;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1776\x3bName\x3e"268078:AluJb(SINE)";avsnp150=rs7534343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9087;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.9063;1000g2015aug_all=0.886382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153484156 rs7534347 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002963,NM_014624;GeneDetail=dist\x3e51019\x3bdist\x3e22920;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1776\x3bName\x3e"268078:AluJb(SINE)";avsnp150=rs7534347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9097;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.9063;1000g2015aug_all=0.886981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153509890 rs3795393 T C 719.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.627;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.624;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A5;Func=exonic;Gene=NM_002962;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=S100A5:NM_002962:exon4:c.A161G:p.D54G;Gencode=Name\x3eENST00000368718.5,ENST00000368717.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.1254;1000g2015aug_all=0.107029;esp6500siv2_all=0.0563;ExAC_ALL=0.0908;ExAC_AFR=0.0121;ExAC_AMR=0.1247;ExAC_EAS=0.2572;ExAC_FIN=0.0632;ExAC_NFE=0.0754;ExAC_OTH=0.0848;ExAC_SAS=0.1032;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=0.043;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.618;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.24;FATHMM_pred=T;phyloP100way_vertebrate=2.911;phyloP20way_mammalian=0.961;SiPhy_29way_logOdds=6.654;gerp++gt2=3.27;CADD=2.492;CADD_Phred=19.42;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,31:76:99:748,0,1057 1 153538449 rs2071576 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005978;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368709.5,ENST00000368710.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.6873;1000g2015aug_all=0.753994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 153582403 rs9792913 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A16;Func=intronic;Gene=NM_080388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368706.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9792913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.6066;1000g2015aug_all=0.441693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153582407 rs9793310 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A16;Func=intronic;Gene=NM_080388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368706.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9793310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.7017;1000g2015aug_all=0.66254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 153587256 rs11548102 A T 803.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A14;Func=UTR3;Gene=NM_020672;GeneDetail=NM_020672:c.*105T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344616.3,ENST00000476873.5,ENST00000368702.5,ENST00000368701.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11548102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.5994;1000g2015aug_all=0.422724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:832,72,0 1 153587308 rs11548104 C T 1217.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A14;Func=UTR3;Gene=NM_020672;GeneDetail=NM_020672:c.*53G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368702.5,ENST00000344616.3,ENST00000476873.5,ENST00000368701.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11548104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.77;1000g2015aug_amr=0.7032;1000g2015aug_all=0.662141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1246,114,0 1 153588208 rs9792963 G A 2660.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=2.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A14;Func=intronic;Gene=NM_020672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476873.5,ENST00000344616.3,ENST00000368702.5,ENST00000368701.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9792963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.598;1000g2015aug_all=0.422324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2689,243,0 1 153588279 rs9792967 G A 4903.77 PASS AC=2;AF=1;AN=2;DP=154;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.216;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A14;Func=intronic;Gene=NM_020672;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368702.5,ENST00000476873.5,ENST00000344616.3,ENST00000368701.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9792967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.598;1000g2015aug_all=0.422324;esp6500siv2_all=0.3716;ExAC_ALL=0.4797;ExAC_AFR=0.1348;ExAC_AMR=0.6917;ExAC_EAS=0.6658;ExAC_FIN=0.4558;ExAC_NFE=0.4724;ExAC_OTH=0.4899;ExAC_SAS=0.4887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,153:153:99:4932,455,0 1 153591652 rs9726753 G A 343.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A13;Func=intronic;Gene=NM_001024210,NM_001024211,NM_001024212,NM_001024213,NM_005979;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368699.3,ENST00000339556.8,ENST00000392622.3,ENST00000440685.6,ENST00000392623.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9726753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.5965;1000g2015aug_all=0.421925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:372,30,0 1 153591770 rs9330299 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A13;Func=intronic;Gene=NM_001024210,NM_001024211,NM_001024212,NM_001024213,NM_005979;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392622.3,ENST00000339556.8,ENST00000368699.3,ENST00000440685.6,ENST00000392623.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e447\x3bName\x3e"268329:MER63A(DNA)";avsnp150=rs9330299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.77;1000g2015aug_amr=0.7017;1000g2015aug_all=0.661941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 153600778 rs3806233 G A 1679.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.759;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=35;ReadPosRankSum=0.614;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A13;Func=intronic;Gene=NM_001024210;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000497086.5,ENST00000368698.3,ENST00000368699.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.6037;1000g2015aug_all=0.447085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,47:48:99:1708,118,0 1 153602861 rs3790411 G C 556.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A13,S100A1;Func=intronic;Gene=NM_001024210,NM_006271;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000497086.5,ENST00000292169.5,ENST00000368698.3,ENST00000368696.3,ENST00000368699.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.7003;1000g2015aug_all=0.607827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:585,42,0 1 153604029 rs1046379 C T 2010.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A13,S100A1;Func=intronic;Gene=NM_001024210,NM_006271;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368696.3,ENST00000368698.3,ENST00000368699.3,ENST00000292169.5,ENST00000497086.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9049;1000g2015aug_all=0.863419;esp6500siv2_all=.;ExAC_ALL=0.7812;ExAC_AFR=0.9541;ExAC_AMR=0.9020;ExAC_EAS=0.8493;ExAC_FIN=0.7027;ExAC_NFE=0.7189;ExAC_OTH=0.7843;ExAC_SAS=0.8356;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2039,174,0 1 153604112 rs1046381 G A 3440.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.563;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eS100A1,S100A13;Func=intronic;Gene=NM_001024210,NM_006271;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292169.5,ENST00000497086.5,ENST00000368698.3,ENST00000368696.3,ENST00000368699.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.6902;1000g2015aug_all=0.588259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,101:101:99:3469,302,0 1 153609039 rs4845557 T C 742.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHTOP;Func=intronic;Gene=NM_001206612,NM_001244664,NM_001317077,NM_015607;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368690.7,ENST00000403433.5,ENST00000368694.7,ENST00000614256.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.612;1000g2015aug_amr=0.7104;1000g2015aug_all=0.636182;esp6500siv2_all=0.5684;ExAC_ALL=0.5960;ExAC_AFR=0.6085;ExAC_AMR=0.7797;ExAC_EAS=0.6822;ExAC_FIN=0.4956;ExAC_NFE=0.5426;ExAC_OTH=0.5770;ExAC_SAS=0.6712;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:771,66,0 1 153631071 rs3806234 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_012437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.499;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.5893;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 153635425 rs3795396 G A 1500.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615950.4,ENST00000361891.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.7089;1000g2015aug_all=0.647564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1529,114,0 1 153636860 rs4351684 A G 4899.77 PASS AC=2;AF=1;AN=2;DP=156;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=0.917;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361891.8,ENST00000615950.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4351684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.7089;1000g2015aug_all=0.651158;esp6500siv2_all=0.5827;ExAC_ALL=0.5939;ExAC_AFR=0.6741;ExAC_AMR=0.7761;ExAC_EAS=0.6854;ExAC_FIN=0.4932;ExAC_NFE=0.5334;ExAC_OTH=0.5683;ExAC_SAS=0.6542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,156:156:99:4928,466,0 1 153637617 rs3862047 G A 359.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615950.4,ENST00000361891.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3862047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.611;1000g2015aug_all=0.470048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:388,33,0 1 153640665 rs10797096 G A 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.6;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615950.4,ENST00000361891.8,ENST00000368681.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.6124;1000g2015aug_all=0.471446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 153642012 rs4845564 C T 56.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615950.4,ENST00000361891.8,ENST00000368681.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1654\x3bName\x3e"268444:AluSx(SINE)";avsnp150=rs4845564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.6052;1000g2015aug_all=0.462061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 153642835 rs6663046 G C 1783.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.66;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361891.8,ENST00000615950.4,ENST00000368681.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1812,159,0 1 153642909 rs11265625 A G 1028.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.63;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILF2;Func=intronic;Gene=NM_001267809,NM_004515;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368681.1,ENST00000361891.8,ENST00000615950.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.6052;1000g2015aug_all=0.462061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1057,84,0 1 153656352 rs9662664 T G 510.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPR1;Func=intronic;Gene=NM_000906;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368680.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9662664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.202;1000g2015aug_amr=0.6095;1000g2015aug_all=0.464257;esp6500siv2_all=0.3773;ExAC_ALL=0.4769;ExAC_AFR=0.2383;ExAC_AMR=0.6871;ExAC_EAS=0.6843;ExAC_FIN=0.4291;ExAC_NFE=0.4493;ExAC_OTH=0.4614;ExAC_SAS=0.5020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:539,42,0 1 153656405 rs9661993 C G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.42;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPR1;Func=intronic;Gene=NM_000906;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368680.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9661993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.6544;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.764;1000g2015aug_amr=0.7089;1000g2015aug_all=0.673522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 153701376 rs12074957 G C 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINTS3;Func=intronic;Gene=NM_001324475,NM_023015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318967.6,ENST00000435409.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12074957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 153732640 rs7554642 A G 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINTS3;Func=intronic;Gene=NM_001324475,NM_023015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435409.6,ENST00000512605.4,ENST00000318967.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1231\x3bName\x3e"268706:AluSz6(SINE)";avsnp150=rs7554642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.3314;1000g2015aug_all=0.548323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,131 1 153743234 rs6675978 T C 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.761;DP=34;ExcessHet=3.0103;FS=6.196;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.84;SOR=2.076;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINTS3;Func=intronic;Gene=NM_001324475,NM_023015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512605.4,ENST00000435409.6,ENST00000318967.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.2995;1000g2015aug_amr=0.3573;1000g2015aug_all=0.442292;esp6500siv2_all=0.3930;ExAC_ALL=0.4467;ExAC_AFR=0.3162;ExAC_AMR=0.4132;ExAC_EAS=0.7145;ExAC_FIN=0.5294;ExAC_NFE=0.4370;ExAC_OTH=0.4286;ExAC_SAS=0.4167;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,9:34:99:240,0,689 1 153743317 rs4345834 G A 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.339;DP=29;ExcessHet=3.0103;FS=3.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.819;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINTS3;Func=intronic;Gene=NM_001324475,NM_023015;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000512605.4,ENST00000435409.6,ENST00000318967.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4345834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.4755;1000g2015aug_all=0.375799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:441,0,278 1 153749884 rs543954160 G A 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.096;DP=24;ExcessHet=3.0103;FS=1.893;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.613;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC27A3;Func=intronic;Gene=NM_001317929,NM_024330;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624995.3,ENST00000368661.7,ENST00000271857.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs543954160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,16:24:99:448,0,160 1 153752139 rs10158450 T C 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.254;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC27A3;Func=intronic;Gene=NM_001317929,NM_024330;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000624995.3,ENST00000368661.7,ENST00000271857.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.5582;1000g2015aug_amr=0.4049;1000g2015aug_all=0.41873;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,202 1 153790501 rs4363451 C T 824.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.605;DP=81;ExcessHet=3.0103;FS=4.52;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-1.115;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGATAD2B;Func=intronic;Gene=NM_020699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368655.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4363451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.4049;1000g2015aug_all=0.258786;esp6500siv2_all=0.2405;ExAC_ALL=0.3232;ExAC_AFR=0.1233;ExAC_AMR=0.4505;ExAC_EAS=0.2741;ExAC_FIN=0.3417;ExAC_NFE=0.3271;ExAC_OTH=0.4;ExAC_SAS=0.3639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,34:80:99:853,0,1315 1 153825208 rs4540690 A G 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.205;DP=21;ExcessHet=3.0103;FS=4.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.025;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGATAD2B;Func=intronic;Gene=NM_020699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368655.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4540690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0685;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.3285;1000g2015aug_all=0.320687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:252,0,294 1 153825404 rs4845576 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.839;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.192;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGATAD2B;Func=intronic;Gene=NM_020699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368655.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.3991;1000g2015aug_all=0.238818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:98:98,0,300 1 153904574 rs11264620 T C 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=36;ExcessHet=3.0103;FS=6.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.596;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2435\x3bName\x3e"269136:AluSp(SINE)";avsnp150=rs11264620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.4164;1000g2015aug_all=0.294728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:506,0,463 1 153906397 rs11264621 A G 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.233;DP=47;ExcessHet=3.0103;FS=1.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.013;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9315;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.67;1000g2015aug_all=0.672724;esp6500siv2_all=0.5345;ExAC_ALL=0.5787;ExAC_AFR=0.5959;ExAC_AMR=0.7125;ExAC_EAS=0.9391;ExAC_FIN=0.5621;ExAC_NFE=0.4917;ExAC_OTH=0.6115;ExAC_SAS=0.6330;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,22:47:99:573,0,653 1 153908309 rs11586075 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11586075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.4135;1000g2015aug_all=0.293331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:107,0,68 1 153909069 rs1043608 G C 1062.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.941;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.307;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=exonic;Gene=NM_014856;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DENND4B:NM_014856:exon16:c.C2388G:p.A796A;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1043608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.4063;1000g2015aug_all=0.26278;esp6500siv2_all=0.2393;ExAC_ALL=0.3540;ExAC_AFR=0.1626;ExAC_AMR=0.4855;ExAC_EAS=0.3108;ExAC_FIN=0.3865;ExAC_NFE=0.3582;ExAC_OTH=0.4138;ExAC_SAS=0.3604;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,39:88:99:1091,0,1596 1 153913699 rs1110165 T G 1276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.444;DP=113;ExcessHet=3.0103;FS=3.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.403;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1110165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.115;1000g2015aug_amr=0.4092;1000g2015aug_all=0.267372;esp6500siv2_all=0.2406;ExAC_ALL=0.3208;ExAC_AFR=0.1492;ExAC_AMR=0.4454;ExAC_EAS=0.2727;ExAC_FIN=0.3446;ExAC_NFE=0.3245;ExAC_OTH=0.3861;ExAC_SAS=0.3307;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,49:113:99:1305,0,1737 1 153913770 rs2252508 A G 1566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.538;DP=145;ExcessHet=3.0103;FS=0.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.062;SOR=0.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eLentiform_nucleus_volume;1000g2015aug_eas=0.9315;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.7443;1000g2015aug_amr=0.6816;1000g2015aug_all=0.705072;esp6500siv2_all=0.5512;ExAC_ALL=0.5800;ExAC_AFR=0.7097;ExAC_AMR=0.7155;ExAC_EAS=0.9392;ExAC_FIN=0.5506;ExAC_NFE=0.4809;ExAC_OTH=0.6182;ExAC_SAS=0.6304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,61:145:99:1595,0,2046 1 153917369 rs6680140 C T 433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.088;DP=27;ExcessHet=3.0103;FS=3.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.704;SOR=2.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND4B;Func=intronic;Gene=NM_014856;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361217.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.4063;1000g2015aug_all=0.26278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:462,0,435 1 153920564 rs10559 A G 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.134;DP=34;ExcessHet=3.0103;FS=3.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.631;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRTC2;Func=UTR3;Gene=NM_181715;GeneDetail=NM_181715:c.*21T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368630.7,ENST00000368633.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.4063;1000g2015aug_all=0.26258;esp6500siv2_all=0.2353;ExAC_ALL=0.3221;ExAC_AFR=0.1409;ExAC_AMR=0.4461;ExAC_EAS=0.2771;ExAC_FIN=0.3494;ExAC_NFE=0.3283;ExAC_OTH=0.3943;ExAC_SAS=0.3317;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:365,0,612 1 153926078 rs11264680 T C 914.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.598;DP=62;ExcessHet=3.0103;FS=7.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.114;SOR=0.218;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRTC2;Func=exonic;Gene=NM_181715;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CRTC2:NM_181715:exon5:c.A439G:p.M147V;Gencode=Name\x3eENST00000368630.7,ENST00000368633.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.4078;1000g2015aug_all=0.262979;esp6500siv2_all=0.2420;ExAC_ALL=0.3232;ExAC_AFR=0.1413;ExAC_AMR=0.4462;ExAC_EAS=0.2742;ExAC_FIN=0.3483;ExAC_NFE=0.3294;ExAC_OTH=0.3980;ExAC_SAS=0.3360;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.842;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.318;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.651;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.84;FATHMM_pred=T;phyloP100way_vertebrate=1.060;phyloP20way_mammalian=0.144;SiPhy_29way_logOdds=6.917;gerp++gt2=4.56;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,36:62:99:943,0,767 1 153927052 rs10908557 C G 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.812;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.625;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRTC2;Func=intronic;Gene=NM_181715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368630.7,ENST00000368633.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.211;1000g2015aug_amr=0.4121;1000g2015aug_all=0.291933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:224,0,209 1 153927270 rs10908558 T C 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.304;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-1.436;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRTC2;Func=intronic;Gene=NM_181715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368630.7,ENST00000368633.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.4049;1000g2015aug_all=0.259585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:278,0,396 1 153930772 rs143873821 G A 383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.289;DP=21;ExcessHet=3.0103;FS=4.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.299;SOR=0.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRTC2;Func=intronic;Gene=NM_181715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368630.7,ENST00000368633.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143873821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0219;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00638978;esp6500siv2_all=0.0159;ExAC_ALL=0.0212;ExAC_AFR=0.0040;ExAC_AMR=0.0048;ExAC_EAS=0;ExAC_FIN=0.0368;ExAC_NFE=0.0314;ExAC_OTH=0.0172;ExAC_SAS=0.0102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:412,0,196 1 153941514 rs11264743 C T 1634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.067;DP=155;ExcessHet=3.0103;FS=7.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.151;SOR=1.259;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREB3L4;Func=exonic;Gene=NM_001255978,NM_001255979,NM_001255980,NM_001255981,NM_130898;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CREB3L4:NM_001255978:exon3:c.C283T:p.P95S,CREB3L4:NM_001255979:exon3:c.C283T:p.P95S,CREB3L4:NM_001255980:exon3:c.C223T:p.P75S,CREB3L4:NM_001255981:exon3:c.C223T:p.P75S,CREB3L4:NM_130898:exon3:c.C283T:p.P95S;Gencode=Name\x3eENST00000368607.7,ENST00000271889.8,ENST00000368603.5,ENST00000368600.7,ENST00000368601.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.4107;1000g2015aug_all=0.256989;esp6500siv2_all=0.2291;ExAC_ALL=0.3076;ExAC_AFR=0.1224;ExAC_AMR=0.4410;ExAC_EAS=0.2672;ExAC_FIN=0.3366;ExAC_NFE=0.3130;ExAC_OTH=0.3800;ExAC_SAS=0.3150;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.932;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.52;MutationAssessor_pred=M;FATHMM_score=1.39;FATHMM_pred=T;phyloP100way_vertebrate=4.598;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=13.053;gerp++gt2=3.86;CADD=4.589;CADD_Phred=24.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,60:155:99:1663,0,2774 1 153942156 rs12023699 G A 136.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREB3L4;Func=intronic;Gene=NM_001255978,NM_001255979,NM_001255980,NM_001255981,NM_130898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368603.5,ENST00000368600.7,ENST00000368601.5,ENST00000271889.8,ENST00000368607.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1860\x3bName\x3e"269196:AluJb(SINE)";avsnp150=rs12023699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.4121;1000g2015aug_all=0.263179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:164,12,0 1 153954674 rs10908578 T C 909.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.08;DP=75;ExcessHet=3.0103;FS=3.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.424;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB13;Func=intronic;Gene=NM_001272038,NM_002870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614713.4,ENST00000368575.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.4891;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.6801;1000g2015aug_all=0.684704;esp6500siv2_all=0.5185;ExAC_ALL=0.5728;ExAC_AFR=0.6252;ExAC_AMR=0.7079;ExAC_EAS=0.9382;ExAC_FIN=0.5406;ExAC_NFE=0.4828;ExAC_OTH=0.6013;ExAC_SAS=0.6285;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,36:75:99:938,0,1029 1 153963743 rs188462725 A G 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.767;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.962;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS27;Func=intronic;Gene=NM_001030,NM_001349946,NM_001349947;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368567.4,ENST00000392558.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs188462725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=0.0009;ExAC_ALL=0.0014;ExAC_AFR=0.0004;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0015;ExAC_OTH=0.0060;ExAC_SAS=0.0016;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,26:49:99:717,0,575 1 153963983 rs114120114 A G 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=0.619;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS27;Func=intronic;Gene=NM_001030,NM_001349946,NM_001349947;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368567.4,ENST00000392558.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114120114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0239;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:226,0,59 1 153974621 rs6701341 C T 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.238;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.89;ReadPosRankSum=2.282;SOR=0.42;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7,ENST00000368553.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6701341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.4222;1000g2015aug_all=0.275958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:446,0,257 1 153994647 rs11264875 C T 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.699;DP=63;ExcessHet=3.0103;FS=0.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-2.117;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=exonic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NUP210L:NM_001159484:exon32:c.G4471A:p.V1491I,NUP210L:NM_207308:exon32:c.G4471A:p.V1491I;Gencode=Name\x3eENST00000368553.5,ENST00000368559.7,ENST00000271854.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.4035;1000g2015aug_all=0.270168;esp6500siv2_all=0.2370;ExAC_ALL=0.3080;ExAC_AFR=0.1694;ExAC_AMR=0.4400;ExAC_EAS=0.2648;ExAC_FIN=0.3382;ExAC_NFE=0.3040;ExAC_OTH=0.3656;ExAC_SAS=0.3218;SIFT_score=0.054;SIFT_pred=T;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.007;MutationTaster_pred=P;MutationAssessor_score=2.405;MutationAssessor_pred=M;FATHMM_score=3.13;FATHMM_pred=T;phyloP100way_vertebrate=4.248;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=14.882;gerp++gt2=6.08;CADD=6.185;CADD_Phred=28.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,28:63:99:681,0,957 1 154025193 rs2790685 T C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.69;MQRankSum=-0.319;QD=10.19;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368553.5,ENST00000368559.7,ENST00000271854.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e37794\x3bName\x3e"269420:HERVK9-int(LTR)";avsnp150=rs2790685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.681;1000g2015aug_eur=0.493;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.6859;1000g2015aug_all=0.698283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:69,0,30 1 154025492 rs1832582 G A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.189;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368553.5,ENST00000368559.7,ENST00000271854.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e37794\x3bName\x3e"269420:HERVK9-int(LTR)";avsnp150=rs1832582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.2924;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.2118;1000g2015aug_all=0.204473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,107 1 154029450 rs11264964 G C 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.85;DP=22;ExcessHet=3.0103;FS=1.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.297;SOR=0.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.118;1000g2015aug_amr=0.402;1000g2015aug_all=0.265575;esp6500siv2_all=0.2346;ExAC_ALL=0.3066;ExAC_AFR=0.1455;ExAC_AMR=0.4422;ExAC_EAS=0.2664;ExAC_FIN=0.3388;ExAC_NFE=0.3042;ExAC_OTH=0.3644;ExAC_SAS=0.3223;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:283,0,389 1 154061855 rs2066135 T G 2208.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066135;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2237,186,0 1 154076366 rs7521047 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.3329;1000g2015aug_all=0.324281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 154091017 rs6661101 G C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.483;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.337;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.4928;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,221 1 154108387 rs3001361 G A 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=exonic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NUP210L:NM_001159484:exon7:c.C912T:p.N304N,NUP210L:NM_207308:exon7:c.C912T:p.N304N;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3001361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.9942;1000g2015aug_all=0.96905;esp6500siv2_all=0.9728;ExAC_ALL=0.9915;ExAC_AFR=0.9018;ExAC_AMR=0.9972;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 154110921 rs6659053 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368559.7,ENST00000271854.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.336;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.4971;1000g2015aug_all=0.327276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 154112167 rs2500223 A C 117.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271854.3,ENST00000368559.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"269691:(A)n(Simple_repeat)";avsnp150=rs2500223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:145,12,0 1 154125067 rs3001363 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.44;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUP210L;Func=intronic;Gene=NM_001159484,NM_207308;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368559.7,ENST00000271854.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e859\x3bName\x3e"269727:FLAM_C(SINE)";avsnp150=rs3001363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.2983;1000g2015aug_all=0.283946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 154131387 . C T 1341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.504;DP=80;ExcessHet=3.0103;FS=0.923;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-0.181;SOR=0.875;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPM3;Func=UTR3;Gene=NM_001043352,NM_001043353;GeneDetail=NM_001043352:c.*58G>A\x3bNM_001043353:c.*58G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611659.4,ENST00000341372.7,ENST00000341485.9,ENST00000302206.9,ENST00000323144.11,ENST00000368533.7,ENST00000368531.6,ENST00000271850.11,ENST00000330188.13,ENST00000328159.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,47:80:99:1370,0,922 1 154141908 rs4845364 A G 1109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.859;DP=84;ExcessHet=3.0103;FS=5.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.314;SOR=1.393;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPM3;Func=intronic;Gene=NM_001043351,NM_001043352,NM_001043353,NM_001278188,NM_001278189,NM_001278190,NM_001278191,NM_001349679,NM_152263,NM_153649;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323144.11,ENST00000302206.9,ENST00000368530.6,ENST00000341485.9,ENST00000611659.4,ENST00000341372.7,ENST00000328159.8,ENST00000330188.13,ENST00000368531.6,ENST00000271850.11,ENST00000368533.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845364;cosmic70=.;CLNALLELEID=249393;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8562;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.7104;1000g2015aug_all=0.732228;esp6500siv2_all=0.6022;ExAC_ALL=0.6077;ExAC_AFR=0.8050;ExAC_AMR=0.7283;ExAC_EAS=0.8769;ExAC_FIN=0.5552;ExAC_NFE=0.5164;ExAC_OTH=0.6460;ExAC_SAS=0.6437;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,39:84:99:1138,0,1183 1 154186918 rs12408458 G C 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=62;ExcessHet=3.0103;FS=5.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.983;SOR=1.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf43;Func=intronic;Gene=NM_001098616,NM_001297717,NM_001297718,NM_001297720,NM_001297721,NM_001297723,NM_015449,NM_138740;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368521.9,ENST00000368518.5,ENST00000368516.1,ENST00000368519.5,ENST00000362076.8,ENST00000350592.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.4986;1000g2015aug_all=0.332867;esp6500siv2_all=0.2745;ExAC_ALL=0.3895;ExAC_AFR=0.0771;ExAC_AMR=0.5410;ExAC_EAS=0.4194;ExAC_FIN=0.3625;ExAC_NFE=0.3951;ExAC_OTH=0.4273;ExAC_SAS=0.4511;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,25:62:99:573,0,960 1 154192143 rs9803862 G A 647.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.167;DP=51;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.029;SOR=1.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf43;Func=intronic;Gene=NM_001098616,NM_001297717,NM_001297718,NM_001297720,NM_001297721,NM_001297723,NM_015449,NM_138740;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368519.5,ENST00000362076.8,ENST00000350592.7,ENST00000368521.9,ENST00000368518.5,ENST00000368516.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9803862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9524;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.7118;1000g2015aug_all=0.664137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,22:51:99:676,0,938 1 154199543 rs4845365 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBAP2L;Func=intronic;Gene=NM_001127320,NM_001287815,NM_001287816,NM_001330730,NM_014847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343815.10,ENST00000271877.11,ENST00000613315.4,ENST00000428931.5,ENST00000361546.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2045\x3bName\x3e"269877:AluSx(SINE)";avsnp150=rs4845365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 154208877 rs3762339 A G 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.655;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=1.126;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBAP2L;Func=intronic;Gene=NM_001127320,NM_001287815,NM_001287816,NM_001330730,NM_014847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361546.6,ENST00000428931.5,ENST00000613315.4,ENST00000271877.11,ENST00000343815.10;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1737\x3bName\x3e"269904:AluJo(SINE)";avsnp150=rs3762339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.621;1000g2015aug_all=0.491014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,257 1 154227239 rs1194604 C A 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.279;DP=30;ExcessHet=3.0103;FS=1.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.212;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBAP2L;Func=intronic;Gene=NM_001127320,NM_001287815,NM_001287816,NM_001330730,NM_014847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361546.6,ENST00000428931.5,ENST00000613315.4,ENST00000343815.10,ENST00000271877.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,12:30:99:400,0,481 1 154228287 rs1194603 T C 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.315;DP=40;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.848;SOR=0.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBAP2L;Func=intronic;Gene=NM_001127320,NM_001287815,NM_001287816,NM_001330730,NM_014847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361546.6,ENST00000428931.5,ENST00000613315.4,ENST00000343815.10,ENST00000271877.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9534;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.7349;1000g2015aug_all=0.773762;esp6500siv2_all=0.6062;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:458,0,421 1 154243115 rs1044013 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBAP2L;Func=UTR3;Gene=NM_014847;GeneDetail=NM_014847:c.*344C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361546.6,ENST00000428931.5,ENST00000271877.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1044013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.3545;1000g2015aug_all=0.489217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 154245512 rs1194593 A G 249.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.197;DP=22;ExcessHet=3.0103;FS=4.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.268;SOR=0.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHAX1;Func=intronic;Gene=NM_001018837,NM_006118;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000483970.6,ENST00000532105.1,ENST00000457918.6,ENST00000328703.11;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.3545;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:278,0,397 1 154284894 rs35800693 A G 488.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.291;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.749;SOR=0.698;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e36540\x3bdist\x3e8698;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs35800693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0952;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1369;1000g2015aug_all=0.148363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,23:57:99:517,0,1027 1 154285078 rs11581043 T G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.102;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.32;ReadPosRankSum=-0.311;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e36724\x3bdist\x3e8514;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs11581043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.498;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.415;1000g2015aug_all=0.465655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,6:21:98:98,0,428 1 154285390 rs7528082 A T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.193;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.62;MQRankSum=-0.973;QD=4.3;ReadPosRankSum=-0.801;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e37036\x3bdist\x3e8202;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs7528082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3184;1000g2015aug_all=0.357228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:99:110,0,441 1 154285487 rs7528167 A G 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.324;DP=49;ExcessHet=3.0103;FS=4.924;MLEAC=1;MLEAF=0.5;MQ=47.69;MQRankSum=0.56;QD=9.14;ReadPosRankSum=-1.869;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e37133\x3bdist\x3e8105;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs7528167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.3184;1000g2015aug_all=0.34405;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,13:49:99:476,0,2048 1 154285494 rs7523757 C T 479.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.301;DP=51;ExcessHet=3.0103;FS=4.439;MLEAC=1;MLEAF=0.5;MQ=48.5;MQRankSum=0.954;QD=9.41;ReadPosRankSum=-2.182;SOR=1.398;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e37140\x3bdist\x3e8098;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs7523757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.4849;1000g2015aug_amr=0.3199;1000g2015aug_all=0.344649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,15:51:99:508,0,2083 1 154285522 rs7514795 G A 496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.141;DP=68;ExcessHet=3.0103;FS=2.211;MLEAC=1;MLEAF=0.5;MQ=53.04;MQRankSum=1.874;QD=7.31;ReadPosRankSum=0.126;SOR=1.062;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006118,NM_080429;GeneDetail=dist\x3e37168\x3bdist\x3e8070;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154319674;Repeat=.;avsnp150=rs7514795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.3184;1000g2015aug_all=0.342652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,21:68:99:525,0,1276 1 154294560 rs41308403 C T 1172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.461;DP=133;ExcessHet=3.0103;FS=4.226;MLEAC=1;MLEAF=0.5;MQ=58.76;MQRankSum=0.424;QD=8.82;ReadPosRankSum=-0.6;SOR=1.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAQP10;Func=intronic;Gene=NM_080429;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484864.1,ENST00000324978.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154310457;Repeat=.;avsnp150=rs41308403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0213658;esp6500siv2_all=0.0538;ExAC_ALL=0.0517;ExAC_AFR=0.0146;ExAC_AMR=0.0204;ExAC_EAS=0;ExAC_FIN=0.1085;ExAC_NFE=0.0736;ExAC_OTH=0.0491;ExAC_SAS=0.0113;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,52:133:99:1201,0,2086 1 154294656 rs1194607 T C 812.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.442;DP=76;ExcessHet=3.0103;FS=0.934;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.452;SOR=0.896;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAQP10;Func=intronic;Gene=NM_080429;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484864.1,ENST00000324978.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.926571\x3bName\x3echr1:154310457;Repeat=.;avsnp150=rs1194607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3591;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.5086;1000g2015aug_all=0.577476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,33:76:99:841,0,1211 1 154296076 rs1194610 T C 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.717;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.922;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAQP10;Func=exonic;Gene=NM_080429;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AQP10:NM_080429:exon5:c.T501C:p.T167T;Gencode=Name\x3eENST00000484864.1,ENST00000324978.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.503;1000g2015aug_amr=0.268;1000g2015aug_all=0.27516;esp6500siv2_all=0.3175;ExAC_ALL=0.2358;ExAC_AFR=0.4837;ExAC_AMR=0.2801;ExAC_EAS=0.1569;ExAC_FIN=0.2111;ExAC_NFE=0.2203;ExAC_OTH=0.2151;ExAC_SAS=0.1628;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:355,0,360 1 154305010 rs1209264 A G 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.903;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=0.21;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=intronic;Gene=NM_001005855,NM_020452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368489.3,ENST00000368487.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1778\x3bName\x3e"270154:AluJr(SINE)";avsnp150=rs1209264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9775;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.9164;1000g2015aug_all=0.894369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:61:228,0,61 1 154310048 rs1760795 C G 892.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.039;DP=64;ExcessHet=3.0103;FS=4.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.821;SOR=0.541;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=exonic;Gene=NM_001005855;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP8B2:NM_001005855:exon12:c.C1062G:p.L354L;Gencode=Name\x3eENST00000368489.3,ENST00000368487.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1760795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.4957;1000g2015aug_all=0.429912;esp6500siv2_all=0.3841;ExAC_ALL=0.4682;ExAC_AFR=0.1995;ExAC_AMR=0.5046;ExAC_EAS=0.6073;ExAC_FIN=0.4155;ExAC_NFE=0.4843;ExAC_OTH=0.4747;ExAC_SAS=0.4950;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,34:64:99:921,0,788 1 154313232 rs1194588 T C 1155.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=intronic;Gene=NM_020452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.6643;1000g2015aug_all=0.63758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1184,99,0 1 154316434 rs2274988 C T 2230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.9;DP=173;ExcessHet=3.0103;FS=2.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.14;SOR=0.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=exonic;Gene=NM_020452;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP8B2:NM_020452:exon18:c.C1923T:p.Y641Y;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.1657;1000g2015aug_all=0.196286;esp6500siv2_all=0.2396;ExAC_ALL=0.2104;ExAC_AFR=0.2285;ExAC_AMR=0.1044;ExAC_EAS=0.1304;ExAC_FIN=0.3500;ExAC_NFE=0.2380;ExAC_OTH=0.2201;ExAC_SAS=0.1480;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,83:173:99:2259,0,2407 1 154317153 rs1194587 C T 1280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.231;DP=109;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=2.199;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=exonic;Gene=NM_020452;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP8B2:NM_020452:exon21:c.C2277T:p.S759S;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.4899;1000g2015aug_all=0.419928;esp6500siv2_all=0.3731;ExAC_ALL=0.4645;ExAC_AFR=0.1632;ExAC_AMR=0.5015;ExAC_EAS=0.6057;ExAC_FIN=0.4156;ExAC_NFE=0.4840;ExAC_OTH=0.4725;ExAC_SAS=0.4946;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,50:109:99:1309,0,1581 1 154317418 rs1194586 T C 1932.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.889;DP=137;ExcessHet=3.0103;FS=1.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.595;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=intronic;Gene=NM_020452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.4928;1000g2015aug_all=0.420527;esp6500siv2_all=0.3725;ExAC_ALL=0.4668;ExAC_AFR=0.1655;ExAC_AMR=0.5014;ExAC_EAS=0.6045;ExAC_FIN=0.4147;ExAC_NFE=0.4845;ExAC_OTH=0.4780;ExAC_SAS=0.5130;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,72:137:99:1961,0,1821 1 154320942 rs2297607 A G 1164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.194;DP=81;ExcessHet=3.0103;FS=0.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.742;SOR=0.521;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=exonic;Gene=NM_020452;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP8B2:NM_020452:exon27:c.A3321G:p.T1107T;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.1499;1000g2015aug_all=0.198283;esp6500siv2_all=0.2350;ExAC_ALL=0.1975;ExAC_AFR=0.2547;ExAC_AMR=0.0835;ExAC_EAS=0.1302;ExAC_FIN=0.3420;ExAC_NFE=0.2164;ExAC_OTH=0.1996;ExAC_SAS=0.1425;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,45:81:99:1193,0,920 1 154321072 rs1194591 A G 1551.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=intronic;Gene=NM_020452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1194591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.9726;1000g2015aug_all=0.940096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1580,132,0 1 154321084 rs2297606 G T 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.298;DP=41;ExcessHet=3.0103;FS=4.613;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.176;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP8B2;Func=intronic;Gene=NM_020452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368489.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.1787;1000g2015aug_all=0.202676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,15:41:99:402,0,680 1 154351199 rs34437053 G A 657.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.298;DP=38;ExcessHet=3.0103;FS=5.131;MLEAC=1;MLEAF=0.5;MQ=59.61;MQRankSum=-0.994;QD=17.31;ReadPosRankSum=0.616;SOR=0.343;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020452,NM_000565;GeneDetail=dist\x3e27419\x3bdist\x3e26470;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.96332\x3bName\x3echr19:23827100;Repeat=.;avsnp150=rs34437053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.4667;1000g2015aug_amr=0.3127;1000g2015aug_all=0.336262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,25:38:99:686,0,306 1 154351247 rs57100877 C G 656.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.382;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.58;MQRankSum=-0.993;QD=18.76;ReadPosRankSum=1.634;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020452,NM_000565;GeneDetail=dist\x3e27467\x3bdist\x3e26422;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.96332\x3bName\x3echr19:23827100;Repeat=.;avsnp150=rs57100877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.196;1000g2015aug_all=0.160144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,23:35:99:685,0,294 1 154351277 rs60767732 G T 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.347;DP=34;ExcessHet=3.0103;FS=3.303;MLEAC=1;MLEAF=0.5;MQ=59.56;MQRankSum=-0.88;QD=21.58;ReadPosRankSum=-0.397;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020452,NM_000565;GeneDetail=dist\x3e27497\x3bdist\x3e26392;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.96332\x3bName\x3echr19:23827100;Repeat=.;avsnp150=rs60767732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.196;1000g2015aug_all=0.160144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,24:34:99:762,0,269 1 154351304 rs60682501 A G 668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.686;DP=39;ExcessHet=3.0103;FS=5.092;MLEAC=1;MLEAF=0.5;MQ=58.77;MQRankSum=-1.405;QD=17.6;ReadPosRankSum=0.344;SOR=0.185;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020452,NM_000565;GeneDetail=dist\x3e27524\x3bdist\x3e26365;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.96332\x3bName\x3echr19:23827100;Repeat=.;avsnp150=rs60682501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.1945;1000g2015aug_all=0.152157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,23:38:99:697,0,444 1 154351323 rs60412881 T C 678.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.437;DP=40;ExcessHet=3.0103;FS=4.662;MLEAC=1;MLEAF=0.5;MQ=59.18;MQRankSum=-0.782;QD=17.4;ReadPosRankSum=-0.329;SOR=0.257;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020452,NM_000565;GeneDetail=dist\x3e27543\x3bdist\x3e26346;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=Score\x3e0.96332\x3bName\x3echr19:23827100;Repeat=.;avsnp150=rs60412881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.196;1000g2015aug_all=0.160144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,23:39:99:707,0,437 1 154401679 rs2228144 G A 2019.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.086;DP=144;ExcessHet=3.0103;FS=0.631;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.438;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=exonic;Gene=NM_000565,NM_001206866,NM_181359;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IL6R:NM_000565:exon2:c.G93A:p.A31A,IL6R:NM_001206866:exon2:c.G93A:p.A31A,IL6R:NM_181359:exon2:c.G93A:p.A31A;Gencode=Name\x3eENST00000622330.4,ENST00000368485.7,ENST00000344086.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.1023;1000g2015aug_all=0.117812;esp6500siv2_all=0.1297;ExAC_ALL=0.1410;ExAC_AFR=0.0609;ExAC_AMR=0.0720;ExAC_EAS=0.1106;ExAC_FIN=0.1645;ExAC_NFE=0.1655;ExAC_OTH=0.1372;ExAC_SAS=0.1483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,67:144:99:2048,0,2075 1 154401972 rs6694817 T C 2330.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_001206866,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000622330.4,ENST00000368485.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.6816;1000g2015aug_all=0.569888;esp6500siv2_all=0.6198;ExAC_ALL=0.5713;ExAC_AFR=0.6828;ExAC_AMR=0.6603;ExAC_EAS=0.5147;ExAC_FIN=0.4769;ExAC_NFE=0.5756;ExAC_OTH=0.5490;ExAC_SAS=0.4613;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2359,207,0 1 154407419 rs7518199 A C 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-1.524;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_001206866,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368485.7,ENST00000622330.4,ENST00000344086.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.549;1000g2015aug_all=0.327476;esp6500siv2_all=0.3482;ExAC_ALL=0.3899;ExAC_AFR=0.2244;ExAC_AMR=0.5751;ExAC_EAS=0.4037;ExAC_FIN=0.3046;ExAC_NFE=0.4067;ExAC_OTH=0.3943;ExAC_SAS=0.3149;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:249,0,250 1 154407713 rs7521458 T C 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.691;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.078;SOR=0.566;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_001206866,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7,ENST00000622330.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2115\x3bName\x3e"270443:AluSz(SINE)";avsnp150=rs7521458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3442;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.5331;1000g2015aug_all=0.30012;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:279,0,446 1 154408340 rs4845371 T C 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.43;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_001206866,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7,ENST00000622330.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6816;1000g2015aug_all=0.567492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 154417829 rs4845373 C T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.319;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368485.7,ENST00000344086.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0885;1000g2015aug_amr=0.5331;1000g2015aug_all=0.295527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,254 1 154420402 rs7512646 G C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2192\x3bName\x3e"270483:AluSp(SINE)";avsnp150=rs7512646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.585;1000g2015aug_all=0.454073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 154420778 rs7529229 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368485.7,ENST00000344086.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e235\x3bName\x3e"270484:MIRb(SINE)";avsnp150=rs7529229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.585;1000g2015aug_all=0.453874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 154422067 rs4845625 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e253\x3bName\x3e"270487:MIRb(SINE)";avsnp150=rs4845625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.6787;1000g2015aug_all=0.558307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 154426947 rs4845374 T A 103.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.792;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=intronic;Gene=NM_000565,NM_181359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.1066;1000g2015aug_all=0.177716;esp6500siv2_all=0.1751;ExAC_ALL=0.2550;ExAC_AFR=0.3156;ExAC_AMR=0.1852;ExAC_EAS=0.1878;ExAC_FIN=0.2130;ExAC_NFE=0.2574;ExAC_OTH=0.2169;ExAC_SAS=0.2881;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:132,0,59 1 154437896 rs2229238 T C 1365.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=1.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=UTR3;Gene=NM_000565,NM_181359;GeneDetail=NM_000565:c.*40T>C\x3bNM_181359:c.*255T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368485.7,ENST00000344086.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eCoronary_heart_disease;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.8631;1000g2015aug_all=0.796925;esp6500siv2_all=0.8035;ExAC_ALL=0.7975;ExAC_AFR=0.7929;ExAC_AMR=0.8348;ExAC_EAS=0.8470;ExAC_FIN=0.6797;ExAC_NFE=0.8014;ExAC_OTH=0.7867;ExAC_SAS=0.7809;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1394,123,0 1 154438084 rs7514452 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL6R;Func=UTR3;Gene=NM_000565,NM_181359;GeneDetail=NM_000565:c.*228C>T\x3bNM_181359:c.*443C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344086.8,ENST00000368485.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.8631;1000g2015aug_all=0.794728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 154442960 rs11265621 G A 864.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.031;DP=53;ExcessHet=3.0103;FS=1.305;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.244;SOR=0.4;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000565,NM_001010846;GeneDetail=dist\x3e1034\x3bdist\x3e8994;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.7233;1000g2015aug_all=0.552915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,31:53:99:893,0,580 1 154458932 rs4845632 A G 208.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHE;Func=intronic;Gene=NM_001010846;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6392;1000g2015aug_amr=0.9784;1000g2015aug_all=0.901158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:237,18,0 1 154459197 rs4845633 C G 867.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHE;Func=intronic;Gene=NM_001010846;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.9928;1000g2015aug_all=0.961062;esp6500siv2_all=0.9589;ExAC_ALL=0.9889;ExAC_AFR=0.8773;ExAC_AMR=0.9956;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:83:896,83,0 1 154473660 rs6700296 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHE;Func=intronic;Gene=NM_001010846;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6700296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.5757;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.118;1000g2015aug_amr=0.7089;1000g2015aug_all=0.509984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,208 1 154473726 rs6683078 G A 1320.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHE;Func=intronic;Gene=NM_001010846;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6683078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6309;1000g2015aug_amr=0.9784;1000g2015aug_all=0.898762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1349,114,0 1 154474131 rs4845635 C G 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.97;DP=51;ExcessHet=3.0103;FS=2.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.274;SOR=0.415;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHE;Func=exonic;Gene=NM_001010846;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SHE:NM_001010846:exon1:c.G372C:p.R124R;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.879;1000g2015aug_all=0.776957;esp6500siv2_all=0.7605;ExAC_ALL=0.8280;ExAC_AFR=0.6084;ExAC_AMR=0.9121;ExAC_EAS=0.9128;ExAC_FIN=0.8375;ExAC_NFE=0.8322;ExAC_OTH=0.8531;ExAC_SAS=0.8381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,24:51:99:611,0,770 1 154474557 rs6703672 T C 239.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.98;ReadPosRankSum=0.887;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001010846,NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304760.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.8241;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.879;1000g2015aug_all=0.778954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:268,0,18 1 154479670 rs6664608 C T 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.37;DP=25;ExcessHet=3.0103;FS=13.337;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.124;SOR=3.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=intronic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368480.3,ENST00000368482.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.118;1000g2015aug_amr=0.7089;1000g2015aug_all=0.510383;esp6500siv2_all=0.4754;ExAC_ALL=0.5981;ExAC_AFR=0.1837;ExAC_AMR=0.7352;ExAC_EAS=0.7750;ExAC_FIN=0.5043;ExAC_NFE=0.6207;ExAC_OTH=0.6201;ExAC_SAS=0.6027;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:373,0,375 1 154492702 rs10908842 G A 614.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.309;DP=31;ExcessHet=3.0103;FS=4.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.849;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=intronic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368482.8,ENST00000368480.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.118;1000g2015aug_amr=0.7089;1000g2015aug_all=0.509585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,22:31:99:643,0,249 1 154493721 rs6684225 T C 383.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=intronic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368482.8,ENST00000368480.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6377;1000g2015aug_amr=0.9784;1000g2015aug_all=0.900759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:412,33,0 1 154514331 rs4845647 C A 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.037;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.205;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=intronic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368482.8,ENST00000368480.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.7349;1000g2015aug_all=0.596645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:444,0,378 1 154514338 rs4845648 A T 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.007;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.977;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=intronic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368480.3,ENST00000368482.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.173;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.0965;1000g2015aug_all=0.116014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,12:27:99:374,0,574 1 154516477 rs12750774 G A 994.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.521;DP=98;ExcessHet=3.0103;FS=0.766;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.94;SOR=0.577;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=exonic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TDRD10:NM_001098475:exon9:c.G542A:p.R181Q,TDRD10:NM_182499:exon9:c.G542A:p.R181Q;Gencode=Name\x3eENST00000368482.8,ENST00000368480.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12750774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2522;1000g2015aug_all=0.13139;esp6500siv2_all=0.2235;ExAC_ALL=0.2324;ExAC_AFR=0.0487;ExAC_AMR=0.2446;ExAC_EAS=0.0225;ExAC_FIN=0.2977;ExAC_NFE=0.3011;ExAC_OTH=0.2544;ExAC_SAS=0.1444;SIFT_score=0.345;SIFT_pred=T;Polyphen2_HDIV_score=0.29;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_pred=B;LRT_score=0.570;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.97;FATHMM_pred=T;phyloP100way_vertebrate=-0.462;phyloP20way_mammalian=-1.173;SiPhy_29way_logOdds=8.531;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,46:98:99:1023,0,1353 1 154516571 rs6678164 T C 2913.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD10;Func=exonic;Gene=NM_001098475,NM_182499;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TDRD10:NM_001098475:exon9:c.T636C:p.A212A,TDRD10:NM_182499:exon9:c.T636C:p.A212A;Gencode=Name\x3eENST00000368480.3,ENST00000368482.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6362;1000g2015aug_amr=0.9784;1000g2015aug_all=0.900359;esp6500siv2_all=0.9048;ExAC_ALL=0.9728;ExAC_AFR=0.7049;ExAC_AMR=0.9864;ExAC_EAS=1;ExAC_FIN=0.9998;ExAC_NFE=0.9993;ExAC_OTH=0.9835;ExAC_SAS=0.9993;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2942,261,0 1 154523215 rs4520411 C T 903.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=2.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4520411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.9784;1000g2015aug_all=0.91254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:932,75,0 1 154523562 rs9427082 G T 739.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.625;DP=46;ExcessHet=3.0103;FS=3.183;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.345;SOR=0.297;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0982;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.173;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.1499;1000g2015aug_all=0.119409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,26:45:99:768,0,556 1 154523588 rs10908849 T G 1126.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=4.479;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.9871;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.9539;1000g2015aug_all=0.852037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1155,87,0 1 154524973 rs12144146 A G 1641.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.158;DP=153;ExcessHet=3.0103;FS=2.033;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.723;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12144146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2522;1000g2015aug_all=0.129193;esp6500siv2_all=0.2229;ExAC_ALL=0.2316;ExAC_AFR=0.0492;ExAC_AMR=0.2441;ExAC_EAS=0.0073;ExAC_FIN=0.2957;ExAC_NFE=0.2999;ExAC_OTH=0.2528;ExAC_SAS=0.1516;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,70:153:99:1670,0,2024 1 154528053 rs56047170 G A 1539.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.411;DP=102;ExcessHet=3.0103;FS=0.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.274;SOR=0.868;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56047170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0982;1000g2015aug_sas=0.182;1000g2015aug_eur=0.164;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.1643;1000g2015aug_all=0.179313;esp6500siv2_all=0.1923;ExAC_ALL=0.1577;ExAC_AFR=0.2567;ExAC_AMR=0.1184;ExAC_EAS=0.1127;ExAC_FIN=0.1442;ExAC_NFE=0.1574;ExAC_OTH=0.1358;ExAC_SAS=0.1542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,57:102:99:1568,0,1301 1 154528086 rs4078519 T C 2926.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2Q1;Func=intronic;Gene=NM_017582;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292211.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4078519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.9625;1000g2015aug_all=0.850439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2955,264,0 1 154548721 rs2072660 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHRNB2;Func=UTR3;Gene=NM_000748;GeneDetail=NM_000748:c.*313T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368476.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072660;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.534;1000g2015aug_amr=0.7594;1000g2015aug_all=0.692692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 154557685 rs9427094 C T 1863.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=intronic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368474.8,ENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427094;cosmic70=.;CLNALLELEID=249407;CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.4769;1000g2015aug_all=0.388778;esp6500siv2_all=0.4032;ExAC_ALL=0.4630;ExAC_AFR=0.2387;ExAC_AMR=0.5279;ExAC_EAS=0.5374;ExAC_FIN=0.4496;ExAC_NFE=0.4914;ExAC_OTH=0.4130;ExAC_SAS=0.4133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1892,175,0 1 154559036 rs6683149 G C 467.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=intronic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368471.7,ENST00000368474.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e486\x3bName\x3e"270776:L2a(LINE)";avsnp150=rs6683149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.9769;1000g2015aug_all=0.911941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:496,39,0 1 154561261 rs9427095 G C 1372.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=intronic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368474.8,ENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.68;1000g2015aug_amr=0.9769;1000g2015aug_all=0.911342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1401,126,0 1 154562625 rs7532276 G C 148.77 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.79;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=intronic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368474.8,ENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.4553;1000g2015aug_all=0.461062;esp6500siv2_all=.;ExAC_ALL=0.5729;ExAC_AFR=0.6610;ExAC_AMR=0.5420;ExAC_EAS=0.5559;ExAC_FIN=0.5957;ExAC_NFE=0.5748;ExAC_OTH=0.5875;ExAC_SAS=0.5393;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:17:140,17,0 1 154573967 rs2229857 T C 2660.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=exonic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R;Gencode=Name\x3eENST00000368471.7,ENST00000368474.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229857;cosmic70=.;CLNALLELEID=192273;CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.7699;1000g2015aug_eur=0.673;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.7579;1000g2015aug_all=0.622604;esp6500siv2_all=0.6079;ExAC_ALL=0.6956;ExAC_AFR=0.4141;ExAC_AMR=0.8305;ExAC_EAS=0.7166;ExAC_FIN=0.6630;ExAC_NFE=0.7022;ExAC_OTH=0.6542;ExAC_SAS=0.7564;SIFT_score=0.381;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.020;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.015;MutationAssessor_pred=M;FATHMM_score=2.73;FATHMM_pred=T;phyloP100way_vertebrate=-0.324;phyloP20way_mammalian=0.088;SiPhy_29way_logOdds=4.899;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2689,251,0 1 154574820 rs1466731 T C 4990.77 PASS AC=2;AF=1;AN=2;DP=153;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=exonic;Gene=NM_001111,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAR:NM_001111:exon2:c.A298G:p.R100G,ADAR:NM_015840:exon2:c.A298G:p.R100G,ADAR:NM_015841:exon2:c.A298G:p.R100G;Gencode=Name\x3eENST00000368471.7,ENST00000368474.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1466731;cosmic70=.;CLNALLELEID=491759;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=1;1000g2015aug_all=0.996206;esp6500siv2_all=0.9957;ExAC_ALL=0.9988;ExAC_AFR=0.9870;ExAC_AMR=0.9994;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=0.807;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.205;MutationAssessor_pred=N;FATHMM_score=2.45;FATHMM_pred=T;phyloP100way_vertebrate=-1.232;phyloP20way_mammalian=-0.439;SiPhy_29way_logOdds=2.295;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,152:152:99:5019,456,0 1 154575040 rs1802645 C T 3334.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=exonic;Gene=NM_001111,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAR:NM_001111:exon2:c.G78A:p.R26R,ADAR:NM_015840:exon2:c.G78A:p.R26R,ADAR:NM_015841:exon2:c.G78A:p.R26R;Gencode=Name\x3eENST00000368474.8,ENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1802645;cosmic70=.;CLNALLELEID=249409;CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=1;1000g2015aug_all=0.997005;esp6500siv2_all=0.9972;ExAC_ALL=0.9992;ExAC_AFR=0.9909;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,102:102:99:3363,306,0 1 154575336 rs4845381 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=intronic;Gene=NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368474.8,ENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.9986;1000g2015aug_all=0.993011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 154600372 rs6426859 A G 183.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAR;Func=UTR5;Gene=NM_001025107;GeneDetail=NM_001025107:c.-26140T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368471.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9312;1000g2015aug_amr=1;1000g2015aug_all=0.981629;esp6500siv2_all=0.9833;ExAC_ALL=0.9954;ExAC_AFR=0.9426;ExAC_AMR=0.9968;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9964;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:212,21,0 1 154601733 rs4845655 A G 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001025107,NM_170782;GeneDetail=dist\x3e1277\x3bdist\x3e68209;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1992\x3bName\x3e"270862:LTR55(LTR)";avsnp150=rs4845655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9312;1000g2015aug_amr=1;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 154650870 rs6426875 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001025107,NM_170782;GeneDetail=dist\x3e50414\x3bdist\x3e19072;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10604\x3bName\x3e"270983:LTR12C(LTR)";avsnp150=rs6426875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9761;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9813;1000g2015aug_all=0.958866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 154650883 rs6426876 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001025107,NM_170782;GeneDetail=dist\x3e50427\x3bdist\x3e19059;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10604\x3bName\x3e"270983:LTR12C(LTR)";avsnp150=rs6426876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.9957;1000g2015aug_all=0.96845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 154698817 rs3738028 C A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=intronic;Gene=NM_001204087,NM_002249,NM_170782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361147.8,ENST00000618040.4,ENST00000271915.8,ENST00000358505.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.615;1000g2015aug_amr=0.389;1000g2015aug_all=0.495407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 154744852 rs1131820 A G 1677.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.773;DP=119;ExcessHet=3.0103;FS=1.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.603;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=exonic;Gene=NM_001204087,NM_002249,NM_170782;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNN3:NM_001204087:exon3:c.T1047C:p.N349N,KCNN3:NM_002249:exon3:c.T1047C:p.N349N,KCNN3:NM_170782:exon3:c.T132C:p.N44N;Gencode=Name\x3eENST00000618040.4,ENST00000361147.8,ENST00000358505.2,ENST00000271915.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131820;cosmic70=.;CLNALLELEID=389312;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.593;1000g2015aug_amr=0.8401;1000g2015aug_all=0.779153;esp6500siv2_all=0.7051;ExAC_ALL=0.7616;ExAC_AFR=0.6225;ExAC_AMR=0.8859;ExAC_EAS=0.9863;ExAC_FIN=0.6941;ExAC_NFE=0.7218;ExAC_OTH=0.7679;ExAC_SAS=0.8302;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,60:119:99:1706,0,1734 1 154745031 rs11584403 T G 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.187;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=intronic;Gene=NM_001204087,NM_002249,NM_170782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361147.8,ENST00000618040.4,ENST00000271915.8,ENST00000358505.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e277\x3bName\x3e"271168:MIR3(SINE)";avsnp150=rs11584403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.376;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.503;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.3329;1000g2015aug_all=0.446486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:196,0,258 1 154800705 rs55930864 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=intronic;Gene=NM_001204087,NM_002249,NM_170782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271915.8,ENST00000358505.2,ENST00000361147.8,ENST00000618040.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e195\x3bName\x3e"271276:MIR3(SINE)";avsnp150=rs55930864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.5432;1000g2015aug_all=0.428115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 154831925 rs1218587 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=intronic;Gene=NM_001204087,NM_002249,NM_170782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361147.8,ENST00000618040.4,ENST00000271915.8,ENST00000358505.2;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e208\x3bName\x3e"271345:MIRb(SINE)";avsnp150=rs1218587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0149;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.41;1000g2015aug_amr=0.1671;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 154832290 rs1061122 C T 814.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.409;DP=71;ExcessHet=3.0103;FS=6.571;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.046;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=UTR5;Gene=NM_170782;GeneDetail=NM_170782:c.-102G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618040.4,ENST00000361147.8,ENST00000358505.2,ENST00000271915.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.4592;1000g2015aug_amr=0.1571;1000g2015aug_all=0.214657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,31:71:99:843,0,1528 1 154832304 rs4845397 T C 972.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.529;DP=61;ExcessHet=3.0103;FS=9.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.772;SOR=0.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=UTR5;Gene=NM_170782;GeneDetail=NM_170782:c.-116A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618040.4,ENST00000361147.8,ENST00000358505.2,ENST00000271915.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.407;1000g2015aug_amr=0.7939;1000g2015aug_all=0.717252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,37:61:99:1001,0,974 1 154832322 rs1218586 A C 2032.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNN3;Func=UTR5;Gene=NM_170782;GeneDetail=NM_170782:c.-134T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358505.2,ENST00000271915.8,ENST00000618040.4;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1218586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.9683;1000g2015aug_all=0.957867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:2061,153,0 1 154869552 rs11264283 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204087,NM_006556;GeneDetail=dist\x3e26798\x3bdist\x3e27656;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.6772;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 154869559 rs10908446 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204087,NM_006556;GeneDetail=dist\x3e26805\x3bdist\x3e27649;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.6772;1000g2015aug_all=0.657947;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 154909268 rs1109815 A G 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.695;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePMVK;Func=UTR5;Gene=NM_001348696,NM_006556;GeneDetail=NM_001348696:c.-4388T>C\x3bNM_006556:c.-107T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368467.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1109815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.636;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.6392;1000g2015aug_amr=0.6715;1000g2015aug_all=0.653754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,241 1 154917701 rs906594 A G 1950.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBXIP1;Func=intronic;Gene=NM_001317734,NM_001317735,NM_020524;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368463.7,ENST00000368465.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs906594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9712;1000g2015aug_all=0.979832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1979,183,0 1 154919080 rs2061690 C T 608.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.751;DP=58;ExcessHet=3.0103;FS=0.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.817;SOR=0.873;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBXIP1;Func=exonic;Gene=NM_001317734,NM_001317735,NM_020524;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D;Gencode=Name\x3eENST00000368463.7,ENST00000368465.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2061690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.6297;1000g2015aug_all=0.515974;esp6500siv2_all=0.3562;ExAC_ALL=0.4977;ExAC_AFR=0.1921;ExAC_AMR=0.6786;ExAC_EAS=0.8854;ExAC_FIN=0.4382;ExAC_NFE=0.4363;ExAC_OTH=0.5122;ExAC_SAS=0.6284;SIFT_score=0.192;SIFT_pred=T;Polyphen2_HDIV_score=0.087;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.063;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=2.61;FATHMM_pred=T;phyloP100way_vertebrate=0.318;phyloP20way_mammalian=0.007;SiPhy_29way_logOdds=6.933;gerp++gt2=3.57;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,25:58:99:637,0,947 1 154919565 rs3738026 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBXIP1;Func=intronic;Gene=NM_001317734,NM_001317735,NM_020524;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368465.5,ENST00000368463.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.636;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.6484;1000g2015aug_all=0.565296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 154941593 rs4845401 C G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.366;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHC1;Func=intronic;Gene=NM_001130040,NM_001130041,NM_001202859,NM_003029,NM_183001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368453.8,ENST00000368450.5,ENST00000448116.6,ENST00000368449.8,ENST00000368445.9;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.611;1000g2015aug_all=0.490415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:28:149,0,28 1 154948327 rs12087657 G T 359.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.163;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.154;SOR=0.481;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCKS1B;Func=intronic;Gene=NM_001826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308987.5,ENST00000368436.1,ENST00000368439.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1446\x3bName\x3e"271606:L1PREC2(LINE)";avsnp150=rs12087657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.1861;1000g2015aug_eur=0.333;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.1758;1000g2015aug_all=0.161941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:388,0,481 1 154981708 rs4845700 C T 73.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB7B;Func=intronic;Gene=NM_001252406,NM_001256455;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417934.6,ENST00000368426.3,ENST00000535420.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.7349;1000g2015aug_all=0.680511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:101,9,0 1 154983539 rs6686021 C T 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.627;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=1.106;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB7B;Func=intronic;Gene=NM_001252406,NM_001256455;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368426.3,ENST00000417934.6,ENST00000535420.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.3646;1000g2015aug_all=0.458267;esp6500siv2_all=.;ExAC_ALL=0.5189;ExAC_AFR=0.2224;ExAC_AMR=0.4080;ExAC_EAS=0.6888;ExAC_FIN=0.5;ExAC_NFE=0.4481;ExAC_OTH=0.5303;ExAC_SAS=0.5711;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,13:15:39:350,0,39 1 155006450 rs74520550 C A 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.607;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-1.171;SOR=0.706;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCST1;Func=UTR5;Gene=NM_001143687,NM_152494;GeneDetail=NM_001143687:c.-63C>A\x3bNM_152494:c.-63C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423025.6,ENST00000368419.2,ENST00000295542.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74520550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1196;1000g2015aug_all=0.116613;esp6500siv2_all=0.1792;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:558,0,938 1 155006451 rs76306191 C G 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.594;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.814;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCST1;Func=UTR5;Gene=NM_001143687,NM_152494;GeneDetail=NM_001143687:c.-62C>G\x3bNM_152494:c.-62C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368419.2,ENST00000423025.6,ENST00000295542.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76306191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1196;1000g2015aug_all=0.116813;esp6500siv2_all=0.1802;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:558,0,938 1 155014426 rs55668940 G A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.071;DP=24;ExcessHet=3.0103;FS=2.395;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.87;SOR=0.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCST1;Func=intronic;Gene=NM_001143687,NM_152494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295542.5,ENST00000368419.2,ENST00000423025.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55668940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.1254;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:375,0,405 1 155024309 rs4845407 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM15,LOC100505666;Func=ncRNA_intronic;Gene=NR_040773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531455.5,ENST00000356955.6,ENST00000449910.6,ENST00000360674.8,ENST00000447332.3,ENST00000355956.6,ENST00000368413.5,ENST00000359280.8,ENST00000271836.10,ENST00000368412.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9226;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.8919;1000g2015aug_all=0.911142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 155026114 rs6660884 C T 657.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=ncRNA_intronic;Gene=NR_040773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447332.3,ENST00000355956.6,ENST00000368413.5,ENST00000359280.8,ENST00000271836.10,ENST00000368412.7,ENST00000531455.5,ENST00000356955.6,ENST00000449910.6,ENST00000360674.8;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e962\x3bName\x3e"271764:MIR(SINE)";avsnp150=rs6660884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.402;1000g2015aug_all=0.482827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:686,51,0 1 155026871 rs11548311 G T 844.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=50;ExcessHet=3.0103;FS=3.905;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.175;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=exonic;Gene=NM_001261464,NM_001261465,NM_001261466,NM_003815,NM_207191,NM_207194,NM_207195,NM_207196,NM_207197;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAM15:NM_001261464:exon6:c.G531T:p.S177S,ADAM15:NM_001261465:exon6:c.G501T:p.S167S,ADAM15:NM_001261466:exon6:c.G453T:p.S151S,ADAM15:NM_003815:exon6:c.G501T:p.S167S,ADAM15:NM_207191:exon6:c.G501T:p.S167S,ADAM15:NM_207194:exon6:c.G501T:p.S167S,ADAM15:NM_207195:exon6:c.G501T:p.S167S,ADAM15:NM_207196:exon6:c.G501T:p.S167S,ADAM15:NM_207197:exon6:c.G501T:p.S167S;Gencode=Name\x3eENST00000449910.6,ENST00000360674.8,ENST00000356955.6,ENST00000531455.5,ENST00000368412.7,ENST00000271836.10,ENST00000368413.5,ENST00000359280.8,ENST00000447332.3,ENST00000355956.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11548311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0583;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0800719;esp6500siv2_all=0.1240;ExAC_ALL=0.1044;ExAC_AFR=0.1200;ExAC_AMR=0.0564;ExAC_EAS=0.0012;ExAC_FIN=0.1184;ExAC_NFE=0.1336;ExAC_OTH=0.1084;ExAC_SAS=0.0587;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:873,0,659 1 155026942 rs6427128 A C 1633.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM15,LOC100505666;Func=exonic;Gene=NM_001261464,NM_001261465,NM_001261466,NM_003815,NM_207191,NM_207194,NM_207195,NM_207196,NM_207197;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T;Gencode=Name\x3eENST00000356955.6,ENST00000360674.8,ENST00000449910.6,ENST00000531455.5,ENST00000359280.8,ENST00000368413.5,ENST00000368412.7,ENST00000271836.10,ENST00000355956.6,ENST00000447332.3;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.8439;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.9308;1000g2015aug_all=0.901957;esp6500siv2_all=0.8723;ExAC_ALL=0.8881;ExAC_AFR=0.8993;ExAC_AMR=0.9341;ExAC_EAS=0.9919;ExAC_FIN=0.8854;ExAC_NFE=0.8656;ExAC_OTH=0.8573;ExAC_SAS=0.8876;SIFT_score=0.762;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.465;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=5.66;FATHMM_pred=T;phyloP100way_vertebrate=0.039;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=4.377;gerp++gt2=3.24;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1662,144,0 1 155028522 rs11264302 G A 4441.77 PASS AC=2;AF=1;AN=2;DP=134;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=0.754;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM15,LOC100505666;Func=ncRNA_intronic;Gene=NR_040773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271836.10,ENST00000368412.7,ENST00000368413.5,ENST00000359280.8,ENST00000447332.3,ENST00000355956.6,ENST00000449910.6,ENST00000360674.8,ENST00000356955.6,ENST00000531455.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.3156;1000g2015aug_all=0.331669;esp6500siv2_all=0.5166;ExAC_ALL=0.4231;ExAC_AFR=0.4981;ExAC_AMR=0.2199;ExAC_EAS=0.0091;ExAC_FIN=0.4973;ExAC_NFE=0.5227;ExAC_OTH=0.4224;ExAC_SAS=0.3031;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,134:134:99:4470,401,0 1 155029825 . G T 420.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.592;DP=44;ExcessHet=3.0103;FS=1.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.86;SOR=0.486;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=exonic;Gene=NM_001261464,NM_001261465,NM_001261466,NM_003815,NM_207191,NM_207194,NM_207195,NM_207196,NM_207197;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAM15:NM_001261464:exon12:c.G1340T:p.C447F,ADAM15:NM_001261465:exon12:c.G1310T:p.C437F,ADAM15:NM_001261466:exon12:c.G1262T:p.C421F,ADAM15:NM_003815:exon12:c.G1310T:p.C437F,ADAM15:NM_207191:exon12:c.G1310T:p.C437F,ADAM15:NM_207194:exon12:c.G1310T:p.C437F,ADAM15:NM_207195:exon12:c.G1310T:p.C437F,ADAM15:NM_207196:exon12:c.G1310T:p.C437F,ADAM15:NM_207197:exon12:c.G1310T:p.C437F;Gencode=Name\x3eENST00000447332.3,ENST00000355956.6,ENST00000271836.10,ENST00000368412.7,ENST00000368413.5,ENST00000359280.8,ENST00000531455.5,ENST00000449910.6,ENST00000360674.8,ENST00000356955.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=4.175;MutationAssessor_pred=H;FATHMM_score=2.37;FATHMM_pred=T;phyloP100way_vertebrate=9.686;phyloP20way_mammalian=0.943;SiPhy_29way_logOdds=16.079;gerp++gt2=5.11;CADD=6.935;CADD_Phred=33;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:449,0,745 1 155030557 rs11264303 A C 6885.77 PASS AC=2;AF=1;AN=2;DP=213;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=1.001;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=exonic;Gene=NM_001261464,NM_001261465,NM_001261466,NM_003815,NM_207191,NM_207194,NM_207195,NM_207196,NM_207197;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADAM15:NM_001261464:exon14:c.A1677C:p.T559T,ADAM15:NM_001261465:exon14:c.A1647C:p.T549T,ADAM15:NM_001261466:exon14:c.A1599C:p.T533T,ADAM15:NM_003815:exon14:c.A1647C:p.T549T,ADAM15:NM_207191:exon14:c.A1647C:p.T549T,ADAM15:NM_207194:exon14:c.A1647C:p.T549T,ADAM15:NM_207195:exon14:c.A1647C:p.T549T,ADAM15:NM_207196:exon14:c.A1647C:p.T549T,ADAM15:NM_207197:exon14:c.A1647C:p.T549T;Gencode=Name\x3eENST00000355956.6,ENST00000447332.3,ENST00000359280.8,ENST00000368413.5,ENST00000368412.7,ENST00000271836.10,ENST00000531455.5,ENST00000356955.6,ENST00000360674.8,ENST00000449910.6;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.3127;1000g2015aug_all=0.324481;esp6500siv2_all=0.5107;ExAC_ALL=0.4216;ExAC_AFR=0.4756;ExAC_AMR=0.2194;ExAC_EAS=0.0058;ExAC_FIN=0.4932;ExAC_NFE=0.5240;ExAC_OTH=0.4229;ExAC_SAS=0.3048;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,213:213:99:6914,639,0 1 155033317 rs11264304 T C 2193.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.82;SOR=1.467;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADAM15,LOC100505666;Func=ncRNA_intronic;Gene=NR_040773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359280.8,ENST00000368413.5,ENST00000368412.7,ENST00000271836.10,ENST00000355956.6,ENST00000356955.6,ENST00000360674.8,ENST00000449910.6,ENST00000531455.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.4652;1000g2015aug_amr=0.7666;1000g2015aug_all=0.696685;esp6500siv2_all=0.6386;ExAC_ALL=0.7060;ExAC_AFR=0.5273;ExAC_AMR=0.7558;ExAC_EAS=0.9077;ExAC_FIN=0.7332;ExAC_NFE=0.6907;ExAC_OTH=0.6840;ExAC_SAS=0.7290;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2222,189,0 1 155033918 rs41264285 C T 360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.447;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=2.139;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=exonic;Gene=NM_001261465,NM_207194,NM_207196,NM_207197;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADAM15:NM_207194:exon20:c.C2305T:p.P769S,ADAM15:NM_207196:exon20:c.C2302T:p.P768S,ADAM15:NM_207197:exon20:c.C2305T:p.P769S;Gencode=Name\x3eENST00000531455.5,ENST00000356955.6,ENST00000360674.8,ENST00000449910.6,ENST00000355956.6,ENST00000359280.8,ENST00000368413.5,ENST00000271836.10,ENST00000368412.7;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.1254;1000g2015aug_all=0.133187;esp6500siv2_all=0.2094;ExAC_ALL=0.1664;ExAC_AFR=0.2032;ExAC_AMR=0.0817;ExAC_EAS=0.0051;ExAC_FIN=0.1727;ExAC_NFE=0.2014;ExAC_OTH=0.1644;ExAC_SAS=0.1444;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.86;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.453;Polyphen2_HVAR_pred=P;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.015;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=5.81;FATHMM_pred=T;phyloP100way_vertebrate=0.604;phyloP20way_mammalian=0.843;SiPhy_29way_logOdds=12.086;gerp++gt2=3.41;CADD=4.154;CADD_Phred=23.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,12:26:99:389,0,404 1 155034632 rs45444697 C G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.189;SOR=2.8;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100505666,ADAM15;Func=ncRNA_intronic;Gene=NR_040773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531455.5,ENST00000360674.8,ENST00000449910.6,ENST00000356955.6,ENST00000355956.6,ENST00000271836.10,ENST00000368412.7,ENST00000359280.8,ENST00000368413.5;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45444697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.111;1000g2015aug_all=0.0928514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:107,0,73 1 155057499 rs3766918 A G 1179.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=2.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFNA3;Func=intronic;Gene=NM_004952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368408.3,ENST00000505139.1;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.7089;1000g2015aug_all=0.697883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1208,99,0 1 155065159 rs7534162 G A 119.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004952,NM_004428;GeneDetail=dist\x3e5145\x3bdist\x3e35190;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q21.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.7061;1000g2015aug_all=0.693291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:148,18,0 1 155078423 rs11264314 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004952,NM_004428;GeneDetail=dist\x3e18409\x3bdist\x3e21926;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e498\x3bName\x3e"271874:L2a(LINE)";avsnp150=rs11264314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.683;1000g2015aug_all=0.679313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 155086148 rs10908456 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004952,NM_004428;GeneDetail=dist\x3e26134\x3bdist\x3e14201;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e226\x3bName\x3e"271898:LTR88b(LTR)";avsnp150=rs10908456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9137;1000g2015aug_sas=0.498;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.6182;1000g2015aug_all=0.551717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 155100265 rs11264331 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_004428,NM_182685;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368407.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.6556;1000g2015aug_all=0.666733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 155106550 rs9297 A G 3040.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFNA1;Func=UTR3;Gene=NM_004428,NM_182685;GeneDetail=NM_004428:c.*7A>G\x3bNM_182685:c.*7A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368406.2,ENST00000368407.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.5937;1000g2015aug_all=0.484225;esp6500siv2_all=0.3652;ExAC_ALL=0.4800;ExAC_AFR=0.3118;ExAC_AMR=0.6533;ExAC_EAS=0.8019;ExAC_FIN=0.5023;ExAC_NFE=0.4242;ExAC_OTH=0.4869;ExAC_SAS=0.5017;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3069,294,0 1 155106697 rs12904 G A 845.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEFNA1;Func=UTR3;Gene=NM_004428,NM_182685;GeneDetail=NM_004428:c.*154G>A\x3bNM_182685:c.*154G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368407.7,ENST00000368406.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.5965;1000g2015aug_all=0.488818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:874,75,0 1 155108287 rs11264333 G A 758.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC50A1;Func=intronic;Gene=NM_001287590,NM_001287591,NM_001287592;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484157.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.5951;1000g2015aug_all=0.503594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:787,63,0 1 155142210 rs4421576 A G 1770.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKRTCAP2;Func=intronic;Gene=NM_173852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000473363.2,ENST00000295682.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4421576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.495;1000g2015aug_afr=0.6498;1000g2015aug_amr=0.6657;1000g2015aug_all=0.625599;esp6500siv2_all=0.5329;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1799,153,0 1 155142229 rs4276914 G A 1837.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKRTCAP2;Func=intronic;Gene=NM_173852;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295682.4,ENST00000473363.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4276914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.494;1000g2015aug_afr=0.6498;1000g2015aug_amr=0.6657;1000g2015aug_all=0.625399;esp6500siv2_all=0.5413;ExAC_ALL=0.5798;ExAC_AFR=0.6793;ExAC_AMR=0.7195;ExAC_EAS=0.8034;ExAC_FIN=0.5905;ExAC_NFE=0.5218;ExAC_OTH=0.5878;ExAC_SAS=0.5433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1866,159,0 1 155148781 rs4971059 G A 134.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.867;DP=24;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=0.323;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM46;Func=intronic;Gene=NM_001256599,NM_001256600,NM_001256601,NM_001282378,NM_001282379,NM_025058;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368385.8,ENST00000368382.5,ENST00000392451.6,ENST00000545012.5,ENST00000543729.5,ENST00000368383.7,ENST00000334634.8,ENST00000611379.1,ENST00000473363.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.5576;1000g2015aug_all=0.429912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:163,0,409 1 155149221 rs149676926 G A 150.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM46;Func=intronic;Gene=NM_001256599,NM_001256600,NM_001256601,NM_001282378,NM_001282379,NM_025058;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334634.8,ENST00000473363.2,ENST00000611379.1,ENST00000368383.7,ENST00000368385.8,ENST00000368382.5,ENST00000392451.6,ENST00000543729.5,ENST00000545012.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs149676926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:179,0,24 1 155149718 rs3814316 G A 2448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.042;DP=197;ExcessHet=3.0103;FS=1.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.315;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM46;Func=exonic;Gene=NM_001256599,NM_001256600,NM_001256601,NM_001282378,NM_001282379,NM_025058;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TRIM46:NM_001282378:exon4:c.G483A:p.T161T,TRIM46:NM_001256599:exon5:c.G792A:p.T264T,TRIM46:NM_001256601:exon5:c.G822A:p.T274T,TRIM46:NM_001282379:exon5:c.G861A:p.T287T,TRIM46:NM_025058:exon5:c.G861A:p.T287T,TRIM46:NM_001256600:exon6:c.G822A:p.T274T;Gencode=Name\x3eENST00000334634.8,ENST00000473363.2,ENST00000611379.1,ENST00000368383.7,ENST00000392451.6,ENST00000543729.5,ENST00000545012.5,ENST00000368385.8,ENST00000368382.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7629;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.5706;1000g2015aug_all=0.445887;esp6500siv2_all=0.3279;ExAC_ALL=0.4216;ExAC_AFR=0.2764;ExAC_AMR=0.6191;ExAC_EAS=0.7685;ExAC_FIN=0.4578;ExAC_NFE=0.3552;ExAC_OTH=0.4117;ExAC_SAS=0.4473;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:96,100:196:99:2477,0,2388 1 155162067 rs4072037 C T 2667.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMUC1;Func=exonic;Gene=NM_001018016,NM_001018017,NM_001044390,NM_001044391,NM_001044392,NM_001044393,NM_001204285,NM_001204286,NM_001204287,NM_001204288,NM_001204289,NM_001204291,NM_001204292,NM_001204293,NM_001204294,NM_001204295,NM_001204296,NM_001204297,NM_002456;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_002456:exon2:c.G66A:p.T22T;Gencode=Name\x3eENST00000368390.7,ENST00000343256.9,ENST00000615517.4,ENST00000457295.6,ENST00000611577.4,ENST00000368393.7,ENST00000620103.4,ENST00000368389.6,ENST00000614519.4,ENST00000438413.5,ENST00000612778.4,ENST00000368398.7,ENST00000611571.4,ENST00000368392.7,ENST00000368396.8,ENST00000338684.9,ENST00000337604.6,ENST00000342482.8,ENST00000462215.5,ENST00000610359.4,ENST00000471283.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4072037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eEsophageal_cancer_and_gastric_cancer,Magnesium_levels;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.7133;1000g2015aug_all=0.628794;esp6500siv2_all=0.5724;ExAC_ALL=0.5790;ExAC_AFR=0.6437;ExAC_AMR=0.7142;ExAC_EAS=0.7838;ExAC_FIN=0.5578;ExAC_NFE=0.5273;ExAC_OTH=0.5576;ExAC_SAS=0.5538;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.030;phyloP20way_mammalian=-0.508;SiPhy_29way_logOdds=4.494;gerp++gt2=.;CADD=1.284;CADD_Phred=12.19;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2696,258,0 1 155167786 rs41264915 A G 1412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.208;DP=141;ExcessHet=3.0103;FS=0.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-1.162;SOR=0.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHBS3;Func=intronic;Gene=NM_001252607,NM_001252608,NM_007112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368378.7,ENST00000447623.2,ENST00000457183.6,ENST00000541576.5,ENST00000541990.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.0749;1000g2015aug_all=0.128594;esp6500siv2_all=0.1598;ExAC_ALL=0.1000;ExAC_AFR=0.2398;ExAC_AMR=0.0554;ExAC_EAS=0.0289;ExAC_FIN=0.0516;ExAC_NFE=0.1053;ExAC_OTH=0.0953;ExAC_SAS=0.0787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,59:141:99:1441,0,2188 1 155172725 rs35154152 T C 852.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.427;DP=62;ExcessHet=3.0103;FS=5.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.158;SOR=1.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHBS3;Func=exonic;Gene=NM_001252607,NM_001252608,NM_007112;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=THBS3:NM_001252608:exon6:c.A475G:p.S159G,THBS3:NM_001252607:exon7:c.A808G:p.S270G,THBS3:NM_007112:exon8:c.A835G:p.S279G;Gencode=Name\x3eENST00000541990.5,ENST00000541576.5,ENST00000430312.1,ENST00000457183.6,ENST00000368378.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35154152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.0706;1000g2015aug_all=0.126597;esp6500siv2_all=0.1549;ExAC_ALL=0.0964;ExAC_AFR=0.2380;ExAC_AMR=0.0537;ExAC_EAS=0.0284;ExAC_FIN=0.0513;ExAC_NFE=0.0998;ExAC_OTH=0.0933;ExAC_SAS=0.0769;SIFT_score=0.383;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.264;MutationTaster_pred=P;MutationAssessor_score=1.88;MutationAssessor_pred=L;FATHMM_score=-1.54;FATHMM_pred=D;phyloP100way_vertebrate=0.790;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=13.409;gerp++gt2=5.24;CADD=1.563;CADD_Phred=13.65;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,33:62:99:881,0,843 1 155173527 rs67579710 G A 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.958;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.818;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTHBS3;Func=intronic;Gene=NM_001252607,NM_001252608,NM_007112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368378.7,ENST00000457183.6,ENST00000541990.5,ENST00000541576.5,ENST00000430312.1;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67579710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.2602;1000g2015aug_amr=0.072;1000g2015aug_all=0.125399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,10:26:99:284,0,549 1 155181843 rs2974935 G T 1058.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.39;QD=31.38;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTX1;Func=intronic;Gene=NM_002455,NM_198883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000316721.8,ENST00000609421.1,ENST00000368376.7,ENST00000455788.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155230975;Repeat=.;avsnp150=rs2974935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.6859;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1087,90,0 1 155181989 rs61738875 G A 1019.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.601;DP=91;ExcessHet=3.0103;FS=5.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.468;SOR=0.333;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTX1;Func=exonic;Gene=NM_002455;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTX1:NM_002455:exon4:c.G750A:p.E250E;Gencode=Name\x3eENST00000368376.7,ENST00000609421.1,ENST00000455788.1,ENST00000316721.8;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155230975;Repeat=.;avsnp150=rs61738875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.0606;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0277556;esp6500siv2_all=0.0402;ExAC_ALL=0.0354;ExAC_AFR=0.0354;ExAC_AMR=0.0239;ExAC_EAS=0.0006;ExAC_FIN=0.0196;ExAC_NFE=0.0456;ExAC_OTH=0.0436;ExAC_SAS=0.0257;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,39:91:99:1048,0,1452 1 155182164 rs2075570 C T 5428.77 PASS AC=2;AF=1;AN=2;DP=167;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.17;QD=32.51;SOR=0.915;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTX1;Func=intronic;Gene=NM_002455,NM_198883;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000455788.1,ENST00000609421.1,ENST00000368376.7,ENST00000316721.8;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155230975;Repeat=.;avsnp150=rs2075570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.6859;1000g2015aug_all=0.622604;esp6500siv2_all=0.5523;ExAC_ALL=0.5578;ExAC_AFR=0.6419;ExAC_AMR=0.6956;ExAC_EAS=0.7789;ExAC_FIN=0.5427;ExAC_NFE=0.4964;ExAC_OTH=0.5374;ExAC_SAS=0.5477;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,167:167:99:5457,499,0 1 155186742 rs1057941 G A 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.188;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=58.39;MQRankSum=-1.156;QD=11.97;ReadPosRankSum=-0.578;SOR=0.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBAP1;Func=ncRNA_exonic;Gene=NR_002188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155230975;Repeat=.;avsnp150=rs1057941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.5994;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=0.4770;ExAC_AFR=0.2669;ExAC_AMR=0.6597;ExAC_EAS=0.7585;ExAC_FIN=0.5157;ExAC_NFE=0.4295;ExAC_OTH=0.4632;ExAC_SAS=0.4939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:471,0,483 1 155194980 rs2049805 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBAP1;Func=ncRNA_intronic;Gene=NR_002188;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2049805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eRenal_function-related_traits_(BUN);1000g2015aug_eas=0.7569;1000g2015aug_sas=0.547;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.6888;1000g2015aug_all=0.622604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 155202689 rs10796940 A C 1043.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.051;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.322;SOR=0.806;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002188,NM_001171811;GeneDetail=dist\x3e5364\x3bdist\x3e1550;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs10796940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.335;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.3242;1000g2015aug_all=0.469649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,32:75:99:1072,0,1307 1 155203060 rs11264344 G A 2179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.933;DP=198;ExcessHet=3.0103;FS=7.199;MLEAC=1;MLEAF=0.5;MQ=56.21;MQRankSum=-1.327;QD=11.01;ReadPosRankSum=0.152;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002188,NM_001171811;GeneDetail=dist\x3e5735\x3bdist\x3e1179;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs11264344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.341;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3314;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:118,80:198:99:2208,0,3410 1 155205331 rs1800473 T C 390.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=38;ExcessHet=3.0103;FS=1.921;MLEAC=1;MLEAF=0.5;MQ=42.4;MQRankSum=-2.029;QD=10.28;ReadPosRankSum=-0.631;SOR=1.158;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368373.7,ENST00000327247.9,ENST00000428024.3,ENST00000427500.7;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs1800473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.339;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3271;1000g2015aug_all=0.467452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,13:38:99:419,0,860 1 155205669 rs3115534 G T 7607.77 PASS AC=2;AF=1;AN=2;DP=218;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.67;QD=29.06;SOR=1.018;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427500.7,ENST00000428024.3,ENST00000368373.7,ENST00000327247.9;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs3115534;cosmic70=.;CLNALLELEID=249411;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.9798;1000g2015aug_all=0.940895;esp6500siv2_all=.;ExAC_ALL=0.9842;ExAC_AFR=0.8368;ExAC_AMR=0.9939;ExAC_EAS=0.9994;ExAC_FIN=0.9962;ExAC_NFE=0.9985;ExAC_OTH=0.9912;ExAC_SAS=0.9982;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,217:217:99:7636,652,0 1 155206341 rs9628662 T G 610.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.862;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.541;SOR=0.703;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327247.9,ENST00000368373.7,ENST00000427500.7,ENST00000428024.3;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs9628662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.34;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3228;1000g2015aug_all=0.467053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,26:58:99:639,0,890 1 155207626 rs2009578 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.834;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427500.7,ENST00000428024.3,ENST00000327247.9,ENST00000368373.7;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=Score\x3e2165\x3bName\x3e"272153:AluSx1(SINE)";avsnp150=rs2009578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.336;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3228;1000g2015aug_all=0.466254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 155207733 rs28678003 C T 342.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.542;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=0.89;SOR=0.558;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327247.9,ENST00000368373.7,ENST00000427500.7,ENST00000428024.3;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs28678003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.1104;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0509185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,15:47:99:371,0,911 1 155208647 rs7416991 T C 1016.77 PASS AC=1;AF=0.5;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.88;QD=27.96;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427500.7,ENST00000428024.3,ENST00000327247.9,ENST00000368373.7;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs7416991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.664;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.6585;1000g2015aug_all=0.476837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,17:28:99:1045,426,375 1 155208647 rs7416991 T G 1016.77 PASS AC=1;AF=0.5;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.88;QD=27.96;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368373.7,ENST00000327247.9,ENST00000427500.7,ENST00000428024.3;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs7416991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.336;1000g2015aug_afr=0.534;1000g2015aug_amr=0.3228;1000g2015aug_all=0.466054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,11:28:99:1045,616,582 1 155209360 rs2075569 C T 390.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.824;DP=40;ExcessHet=3.0103;FS=4.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.055;SOR=0.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427500.7,ENST00000428024.3,ENST00000368373.7,ENST00000327247.9;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=Score\x3e2006\x3bName\x3e"272155:AluSz(SINE)";avsnp150=rs2075569;cosmic70=.;CLNALLELEID=249414;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.336;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.33;1000g2015aug_all=0.490016;esp6500siv2_all=0.4021;ExAC_ALL=0.3663;ExAC_AFR=0.6182;ExAC_AMR=0.4145;ExAC_EAS=0.7066;ExAC_FIN=0.3171;ExAC_NFE=0.2846;ExAC_OTH=0.3485;ExAC_SAS=0.3537;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:419,0,815 1 155209962 rs114217696 C T 593.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.442;DP=32;ExcessHet=3.0103;FS=2.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=-0.134;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGBA;Func=intronic;Gene=NM_000157,NM_001005741,NM_001005742,NM_001171811,NM_001171812;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000327247.9,ENST00000368373.7,ENST00000428024.3,ENST00000427500.7;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.954144\x3bName\x3echr1:155210381;Repeat=.;avsnp150=rs114217696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00259585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:622,0,448 1 155218168 rs2075568 T C 2389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.121;DP=202;ExcessHet=3.0103;FS=0.517;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.377;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM189B;Func=intronic;Gene=NM_001267608,NM_006589,NM_198264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350210.6,ENST00000621094.4,ENST00000361361.6,ENST00000368368.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.2983;1000g2015aug_all=0.467053;esp6500siv2_all=0.3664;ExAC_ALL=0.3317;ExAC_AFR=0.6010;ExAC_AMR=0.3851;ExAC_EAS=0.7108;ExAC_FIN=0.2850;ExAC_NFE=0.2335;ExAC_OTH=0.3091;ExAC_SAS=0.3432;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:110,92:202:99:2418,0,3006 1 155218446 rs734074 A G 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.389;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-1.451;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM189B;Func=intronic;Gene=NM_001267608,NM_006589,NM_198264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621094.4,ENST00000350210.6,ENST00000368368.7,ENST00000361361.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e199\x3bName\x3e"272176:OldhAT1(DNA)";avsnp150=rs734074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.6271;1000g2015aug_amr=0.2997;1000g2015aug_all=0.473243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:351,0,401 1 155221837 rs2072647 C A 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.842;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM189B;Func=intronic;Gene=NM_001267608,NM_006589,NM_198264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368368.7,ENST00000361361.6,ENST00000621094.4,ENST00000350210.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.6135;1000g2015aug_amr=0.3012;1000g2015aug_all=0.465056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,81 1 155224091 rs2075566 C A 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.072;DP=53;ExcessHet=3.0103;FS=9.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.036;SOR=1.429;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM189B;Func=intronic;Gene=NM_001267608,NM_006589,NM_198264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350210.6,ENST00000621094.4,ENST00000361361.6,ENST00000368368.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.3012;1000g2015aug_all=0.468051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,27:53:99:900,0,856 1 155224301 rs2242577 C A 1412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.587;DP=94;ExcessHet=3.0103;FS=7.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.121;SOR=1.435;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM189B;Func=intronic;Gene=NM_001267608,NM_006589,NM_198264;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621094.4,ENST00000350210.6,ENST00000361361.6,ENST00000368368.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.3012;1000g2015aug_all=0.46845;esp6500siv2_all=0.3590;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,45:94:99:1441,0,1559 1 155230131 rs1142287 C T 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.624;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCAMP3;Func=exonic;Gene=NM_005698,NM_052837;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SCAMP3:NM_052837:exon3:c.G300A:p.G100G,SCAMP3:NM_005698:exon4:c.G378A:p.G126G;Gencode=Name\x3eENST00000355379.3,ENST00000302631.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1142287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.3199;1000g2015aug_all=0.451877;esp6500siv2_all=0.3546;ExAC_ALL=0.3325;ExAC_AFR=0.5423;ExAC_AMR=0.4249;ExAC_EAS=0.7096;ExAC_FIN=0.2891;ExAC_NFE=0.2402;ExAC_OTH=0.3062;ExAC_SAS=0.3296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,16:30:99:476,0,392 1 155231545 rs2242576 T G 423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.663;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=2.038;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCAMP3;Func=intronic;Gene=NM_005698,NM_052837;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355379.3,ENST00000302631.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.3285;1000g2015aug_all=0.486621;esp6500siv2_all=0.3901;ExAC_ALL=0.3430;ExAC_AFR=0.6524;ExAC_AMR=0.4309;ExAC_EAS=0.7067;ExAC_FIN=0.2924;ExAC_NFE=0.2410;ExAC_OTH=0.3128;ExAC_SAS=0.3302;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:452,0,482 1 155232074 rs1046188 C T 339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.163;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-1.405;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCAMP3;Func=UTR5;Gene=NM_005698,NM_052837;GeneDetail=NM_005698:c.-132G>A\x3bNM_052837:c.-132G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355379.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.3199;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:368,0,277 1 155235493 rs1078699 T C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLK2;Func=intronic;Gene=NM_001294338,NM_001294339,NM_003993;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368361.8,ENST00000355560.4,ENST00000361168.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1078699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.6649;1000g2015aug_amr=0.3285;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 155238047 rs57075171 C G 1205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.478;DP=80;ExcessHet=3.0103;FS=0.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-1.502;SOR=0.588;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLK2;Func=intronic;Gene=NM_001294338,NM_001294339,NM_003993;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368361.8,ENST00000355560.4,ENST00000361168.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57075171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.0043;1000g2015aug_all=0.0219649;esp6500siv2_all=0.0211;ExAC_ALL=0.0083;ExAC_AFR=0.0593;ExAC_AMR=0.0069;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0121;ExAC_SAS=0.0133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,41:80:99:1234,0,1186 1 155239624 rs2361543 G A 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.322;DP=39;ExcessHet=3.0103;FS=2.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.366;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCLK2;Func=intronic;Gene=NM_001294338,NM_001294339,NM_003993;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361168.9,ENST00000368361.8,ENST00000355560.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2361543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.3242;1000g2015aug_all=0.452676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,14:39:99:365,0,718 1 155253583 rs7520184 G A 170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.344;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCN3;Func=intronic;Gene=NM_020897;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368358.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e257\x3bName\x3e"272243:MIR(SINE)";avsnp150=rs7520184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.3184;1000g2015aug_all=0.433706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:199,0,253 1 155255837 rs11264352 T C 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.964;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.528;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCN3;Func=intronic;Gene=NM_020897;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368358.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.4962;1000g2015aug_amr=0.33;1000g2015aug_all=0.442492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:280,0,428 1 155255906 rs11264353 G C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.875;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.361;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCN3;Func=intronic;Gene=NM_020897;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368358.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e330\x3bName\x3e"272245:MER5B(DNA)";avsnp150=rs11264353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.4924;1000g2015aug_amr=0.3199;1000g2015aug_all=0.439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,225 1 155257492 rs11264355 C G 443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.43;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.529;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHCN3;Func=intronic;Gene=NM_020897;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368358.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.3271;1000g2015aug_all=0.439097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:472,0,360 1 155260350 rs1052177 A G 587.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.157;DP=58;ExcessHet=3.0103;FS=1.087;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.623;SOR=0.983;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKLR;Func=UTR3;Gene=NM_000298,NM_181871;GeneDetail=NM_000298:c.*13T>C\x3bNM_181871:c.*13T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392414.7,ENST00000342741.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052177;cosmic70=.;CLNALLELEID=249415;CLNDN=Pyruvate_kinase_deficiency_of_red_cells|not_specified;CLNDISDB=MedGen:C0340968,OMIM:266200,Orphanet:ORPHA766|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.3271;1000g2015aug_all=0.438698;esp6500siv2_all=0.3193;ExAC_ALL=0.3354;ExAC_AFR=0.4936;ExAC_AMR=0.4283;ExAC_EAS=0.7005;ExAC_FIN=0.3164;ExAC_NFE=0.2490;ExAC_OTH=0.3164;ExAC_SAS=0.3367;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,23:58:99:616,0,1033 1 155260383 rs1052176 G T 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.281;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.58;SOR=0.764;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKLR;Func=exonic;Gene=NM_000298,NM_181871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKLR:NM_000298:exon11:c.C1705A:p.R569R,PKLR:NM_181871:exon11:c.C1612A:p.R538R;Gencode=Name\x3eENST00000392414.7,ENST00000342741.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052176;cosmic70=.;CLNALLELEID=249416;CLNDN=Pyruvate_kinase_deficiency_of_red_cells|not_specified;CLNDISDB=MedGen:C0340968,OMIM:266200,Orphanet:ORPHA766|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.3271;1000g2015aug_all=0.438498;esp6500siv2_all=0.3412;ExAC_ALL=0.3332;ExAC_AFR=0.4913;ExAC_AMR=0.4271;ExAC_EAS=0.7052;ExAC_FIN=0.3103;ExAC_NFE=0.2464;ExAC_OTH=0.3110;ExAC_SAS=0.3355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,34:79:99:740,0,1153 1 155265177 rs2071053 A G 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.314;DP=83;ExcessHet=3.0103;FS=2.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=1.153;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKLR;Func=intronic;Gene=NM_000298,NM_181871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342741.4,ENST00000392414.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.3429;1000g2015aug_all=0.479034;esp6500siv2_all=0.3650;ExAC_ALL=0.3517;ExAC_AFR=0.6172;ExAC_AMR=0.4478;ExAC_EAS=0.7116;ExAC_FIN=0.3275;ExAC_NFE=0.2541;ExAC_OTH=0.3194;ExAC_SAS=0.3381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,41:83:99:1389,0,1095 1 155269776 rs3020781 A G 923.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.162;DP=54;ExcessHet=3.0103;FS=4.525;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-1.184;SOR=1.521;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKLR;Func=intronic;Gene=NM_000298,NM_181871;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392414.7,ENST00000342741.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e452\x3bName\x3e"272274:L2a(LINE)";avsnp150=rs3020781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.3386;1000g2015aug_all=0.47484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,30:54:99:952,0,670 1 155269991 rs8177962 G A 903.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.104;DP=77;ExcessHet=3.0103;FS=1.889;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=2.428;SOR=0.996;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKLR;Func=exonic;Gene=NM_000298,NM_181871;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKLR:NM_000298:exon2:c.C181T:p.L61L,PKLR:NM_181871:exon2:c.C88T:p.L30L;Gencode=Name\x3eENST00000392414.7,ENST00000342741.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8177962;cosmic70=.;CLNALLELEID=276870;CLNDN=Pyruvate_kinase_deficiency_of_red_cells;CLNDISDB=MedGen:C0340968,OMIM:266200,Orphanet:ORPHA766;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0029;1000g2015aug_all=0.0061901;esp6500siv2_all=0.0042;ExAC_ALL=0.0037;ExAC_AFR=0.0069;ExAC_AMR=0.0046;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0130;ExAC_SAS=0.0139;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,37:77:99:932,0,1133 1 155287588 rs1409140 C T 93.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFDPS;Func=ncRNA_exonic;Gene=NR_145424,NR_145425;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000467076.5,ENST00000612683.1,ENST00000447866.5,ENST00000611010.4,ENST00000356657.10,ENST00000368356.8,ENST00000446880.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1589\x3bName\x3e"272324:AluJo(SINE)";avsnp150=rs1409140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.9827;1000g2015aug_all=0.949081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:121,12,0 1 155291263 rs74118444 G T 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.637;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1,RUSC1-AS1;Func=ncRNA_exonic;Gene=NR_145426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446880.5,ENST00000368352.9,ENST00000368354.7,ENST00000450199.1,ENST00000443642.1;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74118444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0217652;esp6500siv2_all=0.0173;ExAC_ALL=0.0127;ExAC_AFR=0.0899;ExAC_AMR=0.0126;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0164;ExAC_SAS=0.0198;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:154,0,62 1 155292075 rs74118445 T G 2225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.766;DP=165;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.23;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1-AS1,RUSC1;Func=exonic;Gene=NM_001105203,NM_001105204;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RUSC1:NM_001105203:exon2:c.T511G:p.S171A,RUSC1:NM_001105204:exon2:c.T511G:p.S171A;Gencode=Name\x3eENST00000443642.1,ENST00000450199.1,ENST00000368354.7,ENST00000368352.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74118445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0223642;esp6500siv2_all=0.0200;ExAC_ALL=0.0081;ExAC_AFR=0.0574;ExAC_AMR=0.0069;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0112;ExAC_SAS=0.0147;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.39;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=1.51;FATHMM_pred=T;phyloP100way_vertebrate=1.118;phyloP20way_mammalian=-0.227;SiPhy_29way_logOdds=5.891;gerp++gt2=2.37;CADD=1.969;CADD_Phred=16.02;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,79:165:99:2254,0,2293 1 155294274 rs914616 A G 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1;Func=exonic;Gene=NM_001105205;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RUSC1:NM_001105205:exon1:c.A66G:p.L22L;Gencode=Name\x3eENST00000368347.8,ENST00000368354.7,ENST00000368352.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs914616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8132;1000g2015aug_amr=0.9827;1000g2015aug_all=0.948283;esp6500siv2_all=0.9568;ExAC_ALL=0.9886;ExAC_AFR=0.8562;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9939;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 155294772 rs4971075 A G 2072.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=0.796;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1;Func=intronic;Gene=NM_001105203,NM_001105204,NM_001105205,NM_001278227,NM_001278228,NM_001278229,NM_001278230,NM_014328;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471876.5,ENST00000490373.5,ENST00000368347.8,ENST00000368349.8,ENST00000292254.8,ENST00000368354.7,ENST00000368352.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9806;1000g2015aug_eur=1;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.9784;1000g2015aug_all=0.915335;esp6500siv2_all=0.9310;ExAC_ALL=0.9774;ExAC_AFR=0.7851;ExAC_AMR=0.9918;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9845;ExAC_SAS=0.9775;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2101,177,0 1 155295713 rs74118447 A G 906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.844;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.08;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1;Func=intronic;Gene=NM_001105203,NM_001105204,NM_001105205,NM_001278227,NM_001278228,NM_001278229,NM_001278230,NM_014328;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292254.8,ENST00000368352.9,ENST00000368354.7,ENST00000490373.5,ENST00000471876.5,ENST00000368347.8,ENST00000368349.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74118447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.0043;1000g2015aug_all=0.0189696;esp6500siv2_all=0.0166;ExAC_ALL=0.0073;ExAC_AFR=0.0461;ExAC_AMR=0.0067;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0012;ExAC_OTH=0.0110;ExAC_SAS=0.0141;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,38:65:99:935,0,558 1 155298203 rs74118448 C T 411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.049;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.573;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRUSC1;Func=intronic;Gene=NM_001105203,NM_001105204,NM_001105205,NM_001278227,NM_001278228,NM_001278229,NM_001278230,NM_014328;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292254.8,ENST00000368354.7,ENST00000368352.9,ENST00000471876.5,ENST00000490373.5,ENST00000368347.8,ENST00000368349.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e259\x3bName\x3e"272332:MIRb(SINE)";avsnp150=rs74118448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.002;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:440,0,329 1 155313047 rs4971051 T C 822.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.06;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L;Func=intronic;Gene=NM_018489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368346.7,ENST00000392403.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1500\x3bName\x3e"272362:AluSz6(SINE)";avsnp150=rs4971051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9806;1000g2015aug_eur=1;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.9784;1000g2015aug_all=0.915735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:851,66,0 1 155316129 rs60981924 C A 496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.103;DP=42;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.367;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L;Func=intronic;Gene=NM_018489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368346.7,ENST00000392403.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60981924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.002;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0421326;esp6500siv2_all=0.0447;ExAC_ALL=0.0150;ExAC_AFR=0.1319;ExAC_AMR=0.0089;ExAC_EAS=0.0006;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0154;ExAC_SAS=0.0146;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,19:42:99:525,0,658 1 155326977 rs58647953 T C 328.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.245;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=2.113;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L;Func=intronic;Gene=NM_018489;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368346.7,ENST00000392403.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e297\x3bName\x3e"272401:Charlie4a(DNA)";avsnp150=rs58647953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.002;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0595048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:357,0,701 1 155408635 rs4971053 T C 2315.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L;Func=exonic;Gene=NM_018489;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASH1L:NM_018489:exon5:c.A5311G:p.T1771A;Gencode=Name\x3eENST00000368346.7,ENST00000392403.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.9827;1000g2015aug_all=0.948682;esp6500siv2_all=0.9521;ExAC_ALL=0.9869;ExAC_AFR=0.8550;ExAC_AMR=0.9951;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9923;ExAC_SAS=0.9996;SIFT_score=0.162;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-2.27;FATHMM_pred=D;phyloP100way_vertebrate=2.325;phyloP20way_mammalian=-0.269;SiPhy_29way_logOdds=5.856;gerp++gt2=4.31;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2344,216,0 1 155532316 rs12403379 T C 1547.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=1.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L,ASH1L-AS1;Func=ncRNA_exonic;Gene=NR_027023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000548830.1,ENST00000392403.7,ENST00000368346.7,ENST00000456633.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155685013;Repeat=.;avsnp150=rs12403379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1576,108,0 1 155532325 rs12403380 T C 1546.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.02;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L-AS1;Func=ncRNA_exonic;Gene=NR_027023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000548830.1,ENST00000368346.7,ENST00000456633.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155685013;Repeat=.;avsnp150=rs12403380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1575,105,0 1 155532332 rs34869594 T C 1366.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=1.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L-AS1;Func=ncRNA_exonic;Gene=NR_027023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456633.1,ENST00000368346.7,ENST00000548830.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155685013;Repeat=.;avsnp150=rs34869594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988818;esp6500siv2_all=.;ExAC_ALL=0.9989;ExAC_AFR=0.9631;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1395,93,0 1 155532341 rs61812107 T C 1370.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L-AS1;Func=ncRNA_exonic;Gene=NR_027023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456633.1,ENST00000368346.7,ENST00000548830.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155685013;Repeat=.;avsnp150=rs61812107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1399,96,0 1 155533153 rs148794484 G A 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.695;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=-1.486;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASH1L-AS1;Func=ncRNA_exonic;Gene=NR_027023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456633.1;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155685013;Repeat=.;avsnp150=rs148794484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0103834;esp6500siv2_all=.;ExAC_ALL=0.0163;ExAC_AFR=0.0090;ExAC_AMR=0.0330;ExAC_EAS=0.0307;ExAC_FIN=0;ExAC_NFE=0.0254;ExAC_OTH=0;ExAC_SAS=0.0118;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,5:19:99:118,0,391 1 155586461 rs61258690 A T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256533,NM_001198899;GeneDetail=dist\x3e1703\x3bdist\x3e42772;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.916711\x3bName\x3echr1:155741375;Repeat=.;avsnp150=rs61258690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.1271;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0603035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 155590641 rs6427279 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256533,NM_001198899;GeneDetail=dist\x3e5883\x3bdist\x3e38592;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1760\x3bName\x3e"273205:AluSx(SINE)";avsnp150=rs6427279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.9755;1000g2015aug_all=0.903754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 155616114 rs4971098 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001256533,NM_001198899;GeneDetail=dist\x3e31356\x3bdist\x3e13119;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.9654;1000g2015aug_all=0.861222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 155658085 rs2666826 T C 1031.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.085;DP=90;ExcessHet=3.0103;FS=1.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.51;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eYY1AP1;Func=exonic;Gene=NM_001198903,NM_001198904;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=YY1AP1:NM_001198903:exon1:c.A171G:p.E57E,YY1AP1:NM_001198904:exon1:c.A171G:p.E57E;Gencode=Name\x3eENST00000368339.9,ENST00000471642.6,ENST00000347088.9,ENST00000355499.8,ENST00000311573.9,ENST00000361831.9,ENST00000404643.5,ENST00000368330.6,ENST00000368340.9,ENST00000359205.9,ENST00000407221.5,ENST00000295566.8,ENST00000405763.7;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.945187\x3bName\x3echr1:155559137;Repeat=.;avsnp150=rs2666826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.3631;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=0.4320;ExAC_AFR=0.7436;ExAC_AMR=0.4964;ExAC_EAS=0.7251;ExAC_FIN=0.4098;ExAC_NFE=0.3547;ExAC_OTH=0.4575;ExAC_SAS=0.3906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,42:90:99:1060,0,1295 1 155699118 rs4933 T C 258.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.713;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.02;ReadPosRankSum=-2.32;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAP3;Func=exonic;Gene=NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DAP3:NM_001199850:exon8:c.T702C:p.L234L,DAP3:NM_001199851:exon8:c.T681C:p.L227L,DAP3:NM_004632:exon9:c.T804C:p.L268L,DAP3:NM_033657:exon9:c.T804C:p.L268L,DAP3:NM_001199849:exon10:c.T804C:p.L268L;Gencode=Name\x3eENST00000535183.5,ENST00000343043.7,ENST00000368336.9,ENST00000471642.6,ENST00000421487.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0583067;esp6500siv2_all=0.0679;ExAC_ALL=0.0507;ExAC_AFR=0.1087;ExAC_AMR=0.0220;ExAC_EAS=0.0003;ExAC_FIN=0.0891;ExAC_NFE=0.0500;ExAC_OTH=0.0651;ExAC_SAS=0.0472;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,14:43:99:287,0,782 1 155707818 rs41264969 A C 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.435;DP=37;ExcessHet=3.0103;FS=8.161;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.681;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDAP3;Func=intronic;Gene=NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000471642.6,ENST00000535183.5,ENST00000343043.7,ENST00000368336.9,ENST00000421487.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0583067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,22:37:99:603,0,435 1 155715529 rs682020 T A 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.79;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.36;MQRankSum=-0.377;QD=10.3;ReadPosRankSum=0.381;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_024117;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.916711\x3bName\x3echr1:155603600;Repeat=.;avsnp150=rs682020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.4281;1000g2015aug_amr=0.062;1000g2015aug_all=0.139976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:193,0,302 1 155716706 rs481110 T C 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.749;DP=70;ExcessHet=3.0103;FS=32.709;MLEAC=1;MLEAF=0.5;MQ=49.39;MQRankSum=-4.409;QD=5.98;ReadPosRankSum=-0.45;SOR=4.405;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSTO2P;Func=ncRNA_exonic;Gene=NR_024117;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.916711\x3bName\x3echr1:155603600;Repeat=.;avsnp150=rs481110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=8.755e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.563e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,18:70:99:447,0,1577 1 155719111 rs2002356 A C 1234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.936;DP=109;ExcessHet=3.0103;FS=9.964;MLEAC=1;MLEAF=0.5;MQ=52.93;MQRankSum=0.627;QD=11.33;ReadPosRankSum=2.627;SOR=0.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMSTO2P;Func=ncRNA_intronic;Gene=NR_024117;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.916711\x3bName\x3echr1:155603600;Repeat=.;avsnp150=rs2002356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.5703;1000g2015aug_amr=0.1167;1000g2015aug_all=0.222045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,52:109:99:1263,0,1537 1 155723297 rs6427286 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000437809.5,ENST00000271883.9,ENST00000620426.4;cytoBand=1q22;wgRna=.;genomicSuperDups=Score\x3e0.916711\x3bName\x3echr1:155603600;Repeat=.;avsnp150=rs6427286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.3793;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.3977;1000g2015aug_all=0.552316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 155724414 rs59706606 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368331.5,ENST00000615926.4,ENST00000271883.9,ENST00000620426.4,ENST00000437809.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2320\x3bName\x3e"273516:AluSg(SINE)";avsnp150=rs59706606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.0605;1000g2015aug_all=0.13758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 155730120 rs76466524 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000437809.5,ENST00000271883.9,ENST00000620426.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76466524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0587061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 155732270 rs111667027 G A 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.887;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-1.292;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000437809.5,ENST00000271883.9,ENST00000620426.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111667027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0295527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:69:185,0,69 1 155732379 rs528816287 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000437809.5,ENST00000271883.9,ENST00000620426.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs528816287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0092;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 155737385 rs849712 C T 374.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.52;QD=28.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361040.9,ENST00000437809.5,ENST00000622608.1,ENST00000271883.9,ENST00000620426.4,ENST00000615926.4,ENST00000368331.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs849712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.9827;1000g2015aug_all=0.927915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:403,39,0 1 155743077 rs59791187 T C 359.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.963;DP=30;ExcessHet=3.0103;FS=3.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.832;SOR=1.41;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271883.9,ENST00000620426.4,ENST00000361040.9,ENST00000622608.1,ENST00000437809.5,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59791187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0587061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:388,0,352 1 155753676 rs822019 A G 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.42;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.354;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000361040.9,ENST00000622608.1,ENST00000437809.5,ENST00000620426.4,ENST00000271883.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.438;1000g2015aug_amr=0.9337;1000g2015aug_all=0.819888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:249,0,332 1 155754117 rs822020 G A 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.01;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.854;SOR=0.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615926.4,ENST00000368331.5,ENST00000437809.5,ENST00000622608.1,ENST00000361040.9,ENST00000620426.4,ENST00000271883.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.6036;1000g2015aug_amr=0.9409;1000g2015aug_all=0.869209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:269,0,326 1 155755097 rs822021 G A 1810.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271883.9,ENST00000620426.4,ENST00000437809.5,ENST00000622608.1,ENST00000361040.9,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.9827;1000g2015aug_all=0.928514;esp6500siv2_all=0.9239;ExAC_ALL=0.9792;ExAC_AFR=0.7714;ExAC_AMR=0.9906;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9890;ExAC_SAS=0.9994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1839,165,0 1 155755239 rs822022 T C 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368331.5,ENST00000615926.4,ENST00000620426.4,ENST00000271883.9,ENST00000361040.9,ENST00000437809.5,ENST00000622608.1;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e202\x3bName\x3e"273589:L3b(LINE)";avsnp150=rs822022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.5802;1000g2015aug_amr=0.9395;1000g2015aug_all=0.86242;esp6500siv2_all=0.8585;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 155774599 rs822016 T C 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=2.405;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620426.4,ENST00000271883.9,ENST00000622608.1,ENST00000437809.5,ENST00000361040.9,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.9409;1000g2015aug_all=0.868211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,247 1 155783763 rs822012 C T 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.883;DP=23;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.246;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620426.4,ENST00000271883.9,ENST00000622608.1,ENST00000437809.5,ENST00000361040.9,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.9443;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.9337;1000g2015aug_all=0.820887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:358,0,252 1 155784372 rs822013 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368331.5,ENST00000615926.4,ENST00000271883.9,ENST00000620426.4,ENST00000622608.1,ENST00000437809.5,ENST00000361040.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1672\x3bName\x3e"273691:AluSx(SINE)";avsnp150=rs822013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7368;1000g2015aug_amr=0.9827;1000g2015aug_all=0.928115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 155791075 rs7537110 T A 516.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.192;DP=30;ExcessHet=3.0103;FS=1.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-0.403;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620426.4,ENST00000271883.9,ENST00000622608.1,ENST00000437809.5,ENST00000361040.9,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"273712:(AAT)n(Simple_repeat)";avsnp150=rs7537110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,18:30:99:545,0,371 1 155822971 rs822490 C T 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.437;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620426.4,ENST00000271883.9,ENST00000437809.5,ENST00000622608.1,ENST00000361040.9,ENST00000368331.5,ENST00000615926.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.6037;1000g2015aug_all=0.447883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:193,0,176 1 155823002 rs822491 T C 559.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGON4L;Func=intronic;Gene=NM_001282856,NM_001282858,NM_001282860,NM_001282861,NM_032292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368331.5,ENST00000615926.4,ENST00000620426.4,ENST00000271883.9,ENST00000622608.1,ENST00000437809.5,ENST00000361040.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:588,48,0 1 155829360 rs1749412 C A 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=UTR5;Gene=NM_152280;GeneDetail=NM_152280:c.-193C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.9813;1000g2015aug_all=0.927316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 155837865 rs822522 G C 1302.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=exonic;Gene=NM_152280;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SYT11:NM_152280:exon2:c.G144C:p.Q48H;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.9827;1000g2015aug_all=0.954673;esp6500siv2_all=0.9548;ExAC_ALL=0.9880;ExAC_AFR=0.8670;ExAC_AMR=0.9954;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9923;ExAC_SAS=0.9995;SIFT_score=0.866;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=0.91;FATHMM_pred=T;phyloP100way_vertebrate=1.750;phyloP20way_mammalian=-0.907;SiPhy_29way_logOdds=7.439;gerp++gt2=3.65;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1331,120,0 1 155838267 rs822521 T C 5024.77 PASS AC=2;AF=1;AN=2;DP=149;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=0.978;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=exonic;Gene=NM_152280;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYT11:NM_152280:exon2:c.T546C:p.H182H;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.9856;1000g2015aug_all=0.93111;esp6500siv2_all=0.9253;ExAC_ALL=0.9799;ExAC_AFR=0.7794;ExAC_AMR=0.9909;ExAC_EAS=0.9998;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9890;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,149:149:99:5053,447,0 1 155838796 rs822520 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=intronic;Gene=NM_152280;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.9856;1000g2015aug_all=0.954872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 155850558 rs822508 T C 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.508;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=intronic;Gene=NM_152280;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.6167;1000g2015aug_all=0.433906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:444,0,233 1 155850811 rs822509 G A 46.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT11;Func=intronic;Gene=NM_152280;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368324.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.659;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.6167;1000g2015aug_all=0.433906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:27:75,0,27 1 155870416 rs1749409 G A 952.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.335;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.464;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIT1;Func=intronic;Gene=NM_001256820,NM_001256821,NM_006912;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539040.5,ENST00000368323.7,ENST00000368322.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1749409;cosmic70=.;CLNALLELEID=178910;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.4327;1000g2015aug_amr=0.9078;1000g2015aug_all=0.779752;esp6500siv2_all=0.7934;ExAC_ALL=0.8772;ExAC_AFR=0.5338;ExAC_AMR=0.9462;ExAC_EAS=0.9361;ExAC_FIN=0.8851;ExAC_NFE=0.9147;ExAC_OTH=0.8579;ExAC_SAS=0.8604;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,35:63:99:981,0,742 1 155880573 rs493446 C G 869.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.752;DP=78;ExcessHet=3.0103;FS=0.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.225;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRIT1;Func=exonic;Gene=NM_001256821;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RIT1:NM_001256821:exon2:c.G31C:p.E11Q;Gencode=Name\x3eENST00000368322.7,ENST00000368323.7,ENST00000539040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs493446;cosmic70=.;CLNALLELEID=228267;CLNDN=not_specified|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.9078;1000g2015aug_all=0.779952;esp6500siv2_all=0.7952;ExAC_ALL=0.8775;ExAC_AFR=0.5357;ExAC_AMR=0.9462;ExAC_EAS=0.9354;ExAC_FIN=0.8851;ExAC_NFE=0.9147;ExAC_OTH=0.8579;ExAC_SAS=0.8604;SIFT_score=0.43;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.21;FATHMM_pred=T;phyloP100way_vertebrate=0.730;phyloP20way_mammalian=-0.037;SiPhy_29way_logOdds=7.464;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,37:78:99:898,0,1160 1 155891045 rs625658 A C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.442;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=intronic;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368321.7,ENST00000368320.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs625658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.5994;1000g2015aug_all=0.399561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,183 1 155895155 rs822502 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=intronic;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368320.7,ENST00000368319.3,ENST00000368321.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1777\x3bName\x3e"274001:AluJo(SINE)";avsnp150=rs822502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.9063;1000g2015aug_all=0.780152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 155899020 rs539602 A T 314.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.202;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=1.304;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=intronic;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368321.7,ENST00000368320.7,ENST00000368319.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs539602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.5994;1000g2015aug_all=0.398962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:99:343,0,127 1 155903310 rs4661150 T C 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=intronic;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368321.7,ENST00000368320.7,ENST00000368319.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2381\x3bName\x3e"274023:AluSg(SINE)";avsnp150=rs4661150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.9856;1000g2015aug_all=0.96266;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 155903408 rs4661151 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.419;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.49;ReadPosRankSum=0.645;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=intronic;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368321.7,ENST00000368319.3,ENST00000368320.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.5994;1000g2015aug_all=0.398962;esp6500siv2_all=0.5118;ExAC_ALL=0.6024;ExAC_AFR=0.2651;ExAC_AMR=0.5174;ExAC_EAS=0.2310;ExAC_FIN=0.6701;ExAC_NFE=0.6969;ExAC_OTH=0.6;ExAC_SAS=0.5836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,6:28:98:98,0,618 1 155904177 rs2275079 T C 1495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.01;DP=96;ExcessHet=3.0103;FS=0.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.075;SOR=0.587;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0907;Func=UTR5;Gene=NM_014949;GeneDetail=NM_014949:c.-13A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368321.7,ENST00000368320.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.9063;1000g2015aug_all=0.779553;esp6500siv2_all=0.7935;ExAC_ALL=0.8771;ExAC_AFR=0.5370;ExAC_AMR=0.9442;ExAC_EAS=0.9353;ExAC_FIN=0.8835;ExAC_NFE=0.9129;ExAC_OTH=0.8642;ExAC_SAS=0.8603;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,57:96:99:1524,0,1012 1 155904392 rs2275081 G A 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.453;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_014949;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.9063;1000g2015aug_all=0.779752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:198,0,407 1 155912486 rs2152051 T C 4474.77 PASS AC=2;AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=0.814;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXFP4;Func=exonic;Gene=NM_181885;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RXFP4:NM_181885:exon1:c.T986C:p.L329S;Gencode=Name\x3eENST00000368318.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2152051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9796;1000g2015aug_eur=1;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.9813;1000g2015aug_all=0.924121;esp6500siv2_all=0.9371;ExAC_ALL=0.9797;ExAC_AFR=0.8118;ExAC_AMR=0.9918;ExAC_EAS=0.9997;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9844;ExAC_SAS=0.9775;SIFT_score=0.532;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.513;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;phyloP100way_vertebrate=-0.129;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=4.614;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,138:138:99:4503,414,0 1 155917880 rs1010033 T A 1774.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.374;DP=144;ExcessHet=3.0103;FS=0.636;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.883;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350111,NM_001350112,NM_004723;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313695.11,ENST00000361247.8,ENST00000462460.6,ENST00000313667.8,ENST00000368315.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1010033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.407;1000g2015aug_amr=0.9078;1000g2015aug_all=0.773163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,68:143:99:1803,0,1981 1 155928232 rs2364404 T C 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.103;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.762;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350111,NM_001350112,NM_004723;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313667.8,ENST00000313695.11,ENST00000361247.8,ENST00000462460.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2364404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.41;1000g2015aug_amr=0.9078;1000g2015aug_all=0.773962;esp6500siv2_all=0.7874;ExAC_ALL=0.8758;ExAC_AFR=0.5176;ExAC_AMR=0.9418;ExAC_EAS=0.9338;ExAC_FIN=0.8848;ExAC_NFE=0.9136;ExAC_OTH=0.8629;ExAC_SAS=0.8620;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:346,0,724 1 155928242 rs2886069 C T 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.947;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.198;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350111,NM_001350112,NM_004723;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000462460.6,ENST00000361247.8,ENST00000313695.11,ENST00000313667.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2886069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.9092;1000g2015aug_all=0.780351;esp6500siv2_all=0.8075;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:255,0,677 1 155931368 rs4661175 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350111,NM_001350112,NM_004723;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313667.8,ENST00000361247.8,ENST00000313695.11,ENST00000462460.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.6009;1000g2015aug_all=0.398562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 155933002 rs35730001 T C 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.857;DP=35;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.281;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350111,NM_001350112,NM_004723;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313667.8,ENST00000313695.11,ENST00000361247.8,ENST00000462460.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35730001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0828;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0477236;esp6500siv2_all=0.0575;ExAC_ALL=0.0716;ExAC_AFR=0.0222;ExAC_AMR=0.0340;ExAC_EAS=0.0012;ExAC_FIN=0.1121;ExAC_NFE=0.0832;ExAC_OTH=0.1052;ExAC_SAS=0.1006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,18:35:99:510,0,435 1 155948088 . A C 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.573;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.03;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF2;Func=intronic;Gene=NM_001162383,NM_001162384,NM_001350110,NM_001350112;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000462460.6,ENST00000361247.8,ENST00000313667.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,20:37:99:562,0,493 1 155981489 rs1475766 C G 1771.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=1.453;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSSR2;Func=intronic;Gene=NM_003145;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295702.8,ENST00000496742.5,ENST00000529008.5,ENST00000480567.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.5375;1000g2015aug_all=0.416933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1800,171,0 1 156007177 rs2095402 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBQLN4;Func=intronic;Gene=NM_001304342,NM_020131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368309.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2425\x3bName\x3e"274247:AluY(SINE)";avsnp150=rs2095402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.5461;1000g2015aug_all=0.432907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 156011444 rs2297792 T C 1106.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.75;QD=32.55;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBQLN4;Func=exonic;Gene=NM_001304342,NM_020131;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UBQLN4:NM_001304342:exon10:c.A1425G:p.I475M,UBQLN4:NM_020131:exon10:c.A1485G:p.I495M;Gencode=Name\x3eENST00000368309.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.5461;1000g2015aug_all=0.433107;esp6500siv2_all=0.5534;ExAC_ALL=0.5802;ExAC_AFR=0.4690;ExAC_AMR=0.4873;ExAC_EAS=0.1877;ExAC_FIN=0.6235;ExAC_NFE=0.6468;ExAC_OTH=0.5604;ExAC_SAS=0.5720;SIFT_score=0.421;SIFT_pred=T;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.070;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.53;FATHMM_pred=T;phyloP100way_vertebrate=0.716;phyloP20way_mammalian=-0.314;SiPhy_29way_logOdds=4.360;gerp++gt2=2.56;CADD=2.042;CADD_Phred=16.48;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1135,102,0 1 156013676 rs34673835 C T 520.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.974;DP=37;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.215;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBQLN4;Func=intronic;Gene=NM_001304342,NM_020131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368309.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34673835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.1599;1000g2015aug_all=0.117412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,21:37:99:549,0,430 1 156021891 rs10796957 C T 145.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBQLN4;Func=intronic;Gene=NM_001304342,NM_020131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368309.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.993;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.9741;1000g2015aug_all=0.91893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:174,15,0 1 156024373 rs3754293 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001145264,NM_001304342,NM_014017,NM_020131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.589;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.5865;1000g2015aug_all=0.376797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,112 1 156025096 rs7541 C T 1510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.439;DP=142;ExcessHet=3.0103;FS=3.277;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.18;SOR=0.429;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMTOR2;Func=exonic;Gene=NM_001145264,NM_014017;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMTOR2:NM_001145264:exon2:c.C111T:p.Y37Y,LAMTOR2:NM_014017:exon2:c.C111T:p.Y37Y;Gencode=Name\x3eENST00000368305.8,ENST00000368302.3,ENST00000368304.9;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.1297;1000g2015aug_all=0.0716853;esp6500siv2_all=0.1270;ExAC_ALL=0.1203;ExAC_AFR=0.0515;ExAC_AMR=0.0837;ExAC_EAS=0.0003;ExAC_FIN=0.1494;ExAC_NFE=0.1597;ExAC_OTH=0.1427;ExAC_SAS=0.0802;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:78,63:141:99:1539,0,2223 1 156030820 rs2275073 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020387;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.13;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.7349;1000g2015aug_all=0.44988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156107534 rs4641 C T 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.793;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-1.359;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMNA;Func=exonic;Gene=NM_001257374,NM_001282624,NM_001282625,NM_001282626,NM_005572,NM_170707;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H;Gencode=Name\x3eENST00000368301.6,ENST00000361308.8,ENST00000368300.8,ENST00000368299.7,ENST00000473598.6,ENST00000368297.5,ENST00000347559.6,ENST00000448611.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4641;cosmic70=.;CLNALLELEID=57212;CLNDN=Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2738;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.3012;1000g2015aug_all=0.220248;esp6500siv2_all=0.1970;ExAC_ALL=0.2655;ExAC_AFR=0.0998;ExAC_AMR=0.3660;ExAC_EAS=0.3081;ExAC_FIN=0.25;ExAC_NFE=0.2817;ExAC_OTH=0.3297;ExAC_SAS=0.2943;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:150,0,396 1 156120488 rs11805565 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA4A;Func=intronic;Gene=NM_001193301;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355014.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11805565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.3241;1000g2015aug_eur=0.335;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.3588;1000g2015aug_all=0.301118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156133038 rs7555253 T C 470.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.376;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.722;SOR=0.715;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA4A;Func=intronic;Gene=NM_001193300,NM_001193301,NM_001193302,NM_022367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368285.7,ENST00000355014.6,ENST00000368282.1,ENST00000368286.6,ENST00000368284.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.4179;1000g2015aug_all=0.436901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,18:47:99:499,0,868 1 156146218 rs12401573 C T 1542.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEMA4A;Func=exonic;Gene=NM_001193300,NM_001193301,NM_001193302,NM_022367;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEMA4A:NM_001193302:exon13:c.C1320T:p.P440P,SEMA4A:NM_001193300:exon15:c.C1716T:p.P572P,SEMA4A:NM_001193301:exon15:c.C1716T:p.P572P,SEMA4A:NM_022367:exon15:c.C1716T:p.P572P;Gencode=Name\x3eENST00000368285.7,ENST00000355014.6,ENST00000368286.6,ENST00000368282.1,ENST00000368284.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401573;cosmic70=.;CLNALLELEID=249423;CLNDN=not_specified|Cone-Rod_Dystrophy,_Recessive|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239309|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.5231;1000g2015aug_all=0.430911;esp6500siv2_all=0.5318;ExAC_ALL=0.5272;ExAC_AFR=0.4013;ExAC_AMR=0.5330;ExAC_EAS=0.2381;ExAC_FIN=0.5628;ExAC_NFE=0.5929;ExAC_OTH=0.5166;ExAC_SAS=0.4750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1571,147,0 1 156163906 rs41265025 C T 612.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.104;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.517;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A44;Func=UTR5;Gene=NM_001286184,NM_014655;GeneDetail=NM_001286184:c.-5733C>T\x3bNM_014655:c.-5733C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359511.4,ENST00000423538.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41265025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.1902;1000g2015aug_all=0.146166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,19:28:99:641,0,258 1 156167271 rs2842848 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A44;Func=intronic;Gene=NM_001286184,NM_014655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423538.6,ENST00000359511.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2542\x3bName\x3e"274629:AluY(SINE)";avsnp150=rs2842848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.993;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9957;1000g2015aug_all=0.995807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156169610 rs2072499 A G 746.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.807;DP=50;ExcessHet=3.0103;FS=7.224;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.01;SOR=0.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC25A44;Func=intronic;Gene=NM_001286184,NM_014655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359511.4,ENST00000423538.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eTesticular_germ_cell_tumor;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.674;1000g2015aug_amr=0.3271;1000g2015aug_all=0.381989;esp6500siv2_all=0.4416;ExAC_ALL=0.3514;ExAC_AFR=0.6361;ExAC_AMR=0.2835;ExAC_EAS=0.1573;ExAC_FIN=0.3491;ExAC_NFE=0.3499;ExAC_OTH=0.3563;ExAC_SAS=0.3199;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:775,0,743 1 156182710 rs2241107 T C 361.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.449;DP=23;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=0.585;SOR=0.165;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001199653,NM_001199654,NM_001199661,NM_001199662,NM_001199663,NM_001199664,NM_007221\x3bNM_001286184,NM_014655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2241107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1379;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.3271;1000g2015aug_all=0.381789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:390,0,408 1 156195205 rs2758600 C T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.652;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePMF1,PMF1-BGLAP;Func=intronic;Gene=NM_001199653,NM_001199654,NM_001199661,NM_001199662,NM_001199663,NM_001199664,NM_007221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368276.8,ENST00000567140.2,ENST00000368277.3,ENST00000490491.5,ENST00000368279.7,ENST00000368273.8,ENST00000320139.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1554\x3bName\x3e"274702:L1PB1(LINE)";avsnp150=rs2758600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.2738;1000g2015aug_all=0.245407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 156202173 rs1052053 A G 2066.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.942;DP=135;ExcessHet=3.0103;FS=1.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-1.125;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePMF1,PMF1-BGLAP;Func=exonic;Gene=NM_001199653,NM_001199661,NM_001199662,NM_001199663,NM_007221;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PMF1:NM_001199653:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199661:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199662:exon2:c.A224G:p.Q75R,PMF1-BGLAP:NM_001199663:exon2:c.A224G:p.Q75R,PMF1:NM_007221:exon2:c.A224G:p.Q75R;Gencode=Name\x3eENST00000490491.5,ENST00000368279.7,ENST00000368273.8,ENST00000320139.5,ENST00000368276.8,ENST00000368277.3,ENST00000567140.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.366;1000g2015aug_all=0.447284;esp6500siv2_all=0.4694;ExAC_ALL=0.3852;ExAC_AFR=0.6759;ExAC_AMR=0.3348;ExAC_EAS=0.3437;ExAC_FIN=0.3580;ExAC_NFE=0.3702;ExAC_OTH=0.3907;ExAC_SAS=0.3301;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.030;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.345;MutationAssessor_pred=N;FATHMM_score=1.61;FATHMM_pred=T;phyloP100way_vertebrate=2.827;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=8.218;gerp++gt2=4.69;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,75:135:99:2095,0,1415 1 156206121 rs1052067 G A 3115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.891;DP=232;ExcessHet=3.0103;FS=1.588;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.52;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePMF1,PMF1-BGLAP;Func=exonic;Gene=NM_001199654,NM_001199662,NM_001199664,NM_007221;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PMF1-BGLAP:NM_001199664:exon2:c.G204A:p.M68I,PMF1:NM_001199654:exon4:c.G417A:p.M139I,PMF1-BGLAP:NM_001199662:exon4:c.G411A:p.M137I,PMF1:NM_007221:exon4:c.G411A:p.M137I;Gencode=Name\x3eENST00000368277.3,ENST00000567140.2,ENST00000368276.8,ENST00000320139.5,ENST00000368279.7,ENST00000490491.5,ENST00000368273.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.219;1000g2015aug_all=0.19369;esp6500siv2_all=0.2365;ExAC_ALL=0.2344;ExAC_AFR=0.1488;ExAC_AMR=0.1516;ExAC_EAS=0.1882;ExAC_FIN=0.2870;ExAC_NFE=0.2771;ExAC_OTH=0.2489;ExAC_SAS=0.1768;SIFT_score=0.065;SIFT_pred=T;Polyphen2_HDIV_score=0.139;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.127;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=1.405;MutationAssessor_pred=L;FATHMM_score=1.7;FATHMM_pred=T;phyloP100way_vertebrate=2.313;phyloP20way_mammalian=0.108;SiPhy_29way_logOdds=10.624;gerp++gt2=3.93;CADD=1.344;CADD_Phred=12.50;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,117:232:99:3144,0,2982 1 156206695 rs115853779 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePMF1-BGLAP,PMF1;Func=intronic;Gene=NM_001199653,NM_001199654,NM_001199661,NM_001199662,NM_001199663,NM_001199664,NM_007221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368273.8,ENST00000368279.7,ENST00000490491.5,ENST00000320139.5,ENST00000368276.8,ENST00000368277.3,ENST00000567140.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115853779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0209;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 156211825 rs1800247 T C 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-0.755;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBGLAP,PMF1-BGLAP;Func=UTR5;Gene=NM_199173;GeneDetail=NM_199173:c.-198T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000490491.5,ENST00000320139.5,ENST00000368272.4,ENST00000368276.8,ENST00000567140.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1800247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.17;1000g2015aug_all=0.222444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,262 1 156236674 rs2758614 T C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.551;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG5;Func=intronic;Gene=NM_001323614,NM_001323615,NM_001323616,NM_001323617,NM_015327;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361813.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e867\x3bName\x3e"274790:FLAM_C(SINE)";avsnp150=rs2758614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.8314;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,259 1 156247907 rs2248273 C T 200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.113;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.114;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG5;Func=intronic;Gene=NM_001323614,NM_001323615,NM_001323616,NM_001323617,NM_015327;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361813.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2248273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1758;1000g2015aug_all=0.234425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:229,0,171 1 156255833 rs2842883 G C 888.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM79;Func=intronic;Gene=NM_001323617,NM_032323;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357501.6,ENST00000295694.9,ENST00000405535.2;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.994;1000g2015aug_afr=0.9236;1000g2015aug_amr=0.9957;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:917,78,0 1 156282224 rs2985711 A G 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.189;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCT3;Func=intronic;Gene=NM_001008800,NM_005998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368259.6,ENST00000295688.7,ENST00000472765.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1838\x3bName\x3e"274894:AluJo(SINE)";avsnp150=rs2985711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.8372;1000g2015aug_all=0.783746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:103,0,73 1 156287360 rs2249790 C T 555.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.626;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.934;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCT3;Func=intronic;Gene=NM_001008800,NM_005998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472765.6,ENST00000295688.7,ENST00000368259.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2249790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.1758;1000g2015aug_all=0.235224;esp6500siv2_all=0.2525;ExAC_ALL=0.2557;ExAC_AFR=0.2253;ExAC_AMR=0.1018;ExAC_EAS=0.2330;ExAC_FIN=0.4478;ExAC_NFE=0.2758;ExAC_OTH=0.2854;ExAC_SAS=0.2333;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:584,0,546 1 156303527 rs2764402 C A 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.152;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.083;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCT3;Func=intronic;Gene=NM_001008800,NM_005998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295688.7,ENST00000472765.6,ENST00000368259.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2764402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0209;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:251,0,175 1 156347131 rs2245623 G A 1272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.825;DP=105;ExcessHet=3.0103;FS=6.313;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.346;SOR=1.328;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=exonic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RHBG:NM_020407:exon2:c.G227A:p.G76D,RHBG:NM_001256395:exon3:c.G20A:p.G7D,RHBG:NM_001256396:exon3:c.G137A:p.G46D;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2245623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.2781;1000g2015aug_all=0.270567;esp6500siv2_all=0.3721;ExAC_ALL=0.3740;ExAC_AFR=0.2161;ExAC_AMR=0.2259;ExAC_EAS=0.0992;ExAC_FIN=0.4796;ExAC_NFE=0.4523;ExAC_OTH=0.3974;ExAC_SAS=0.3602;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=3.605;MutationAssessor_pred=H;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=9.740;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=16.719;gerp++gt2=4.86;CADD=6.377;CADD_Phred=29.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,47:104:99:1301,0,1404 1 156348344 rs2842851 C T 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.191;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.349;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.2781;1000g2015aug_all=0.272764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,183 1 156351066 rs942679 C A 946.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.055;DP=82;ExcessHet=3.0103;FS=5.867;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.262;SOR=1.345;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e535\x3bName\x3e"275069:MIRb(SINE)";avsnp150=rs942679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.2651;1000g2015aug_all=0.232628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,36:82:99:975,0,1140 1 156351699 rs3748569 G A 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.238;DP=65;ExcessHet=3.0103;FS=11.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.716;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=exonic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.5719;1000g2015aug_amr=0.6037;1000g2015aug_all=0.544728;esp6500siv2_all=0.4585;ExAC_ALL=0.4800;ExAC_AFR=0.5484;ExAC_AMR=0.6252;ExAC_EAS=0.7071;ExAC_FIN=0.4269;ExAC_NFE=0.4315;ExAC_OTH=0.4456;ExAC_SAS=0.4381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.986;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=3.52;MutationAssessor_pred=H;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=7.757;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=14.590;gerp++gt2=4.44;CADD=6.855;CADD_Phred=33;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,28:65:99:668,0,1044 1 156351792 rs3748568 G A 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.109;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-0.241;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.549;1000g2015aug_all=0.536941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,15:56:99:322,0,1055 1 156352870 rs4618959 G A 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.599;DP=14;ExcessHet=3.0103;FS=4.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=0.128;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4618959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.6377;1000g2015aug_amr=0.2911;1000g2015aug_all=0.437899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:334,0,133 1 156353970 rs6668419 A G 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.545;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.268;1000g2015aug_all=0.359824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,143 1 156354293 rs6668731 A G 612.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.791;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.095;SOR=0.617;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=intronic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.2911;1000g2015aug_all=0.423123;esp6500siv2_all=0.3413;ExAC_ALL=0.3200;ExAC_AFR=0.5617;ExAC_AMR=0.3230;ExAC_EAS=0.5663;ExAC_FIN=0.2343;ExAC_NFE=0.2573;ExAC_OTH=0.3043;ExAC_SAS=0.3347;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,24:65:99:641,0,1077 1 156354367 rs6668857 A G 688.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.567;DP=59;ExcessHet=3.0103;FS=2.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.542;SOR=0.389;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHBG;Func=exonic;Gene=NM_001256395,NM_001256396,NM_020407;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RHBG:NM_020407:exon9:c.A1283G:p.H428R,RHBG:NM_001256395:exon10:c.A1076G:p.H359R,RHBG:NM_001256396:exon10:c.A1193G:p.H398R;Gencode=Name\x3eENST00000537040.5;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.6686;1000g2015aug_all=0.733027;esp6500siv2_all=0.6334;ExAC_ALL=0.6122;ExAC_AFR=0.8555;ExAC_AMR=0.6875;ExAC_EAS=0.9116;ExAC_FIN=0.5319;ExAC_NFE=0.5301;ExAC_OTH=0.5907;ExAC_SAS=0.6203;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=4.034;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=11.353;gerp++gt2=5.94;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,23:58:99:717,0,1071 1 156374256 rs3431 C T 763.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.746;DP=60;ExcessHet=3.0103;FS=13.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.756;SOR=0.081;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf61;Func=UTR3;Gene=NM_001320453,NM_001320454,NM_001320455,NM_006365;GeneDetail=NM_001320453:c.*90G>A\x3bNM_001320454:c.*62G>A\x3bNM_001320455:c.*73G>A\x3bNM_006365:c.*90G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368243.5,ENST00000615748.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.3458;1000g2015aug_all=0.238818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,33:59:99:792,0,807 1 156376680 rs6662064 A G 212.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf61;Func=intronic;Gene=NM_001320453,NM_001320454,NM_001320455,NM_006365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368243.5,ENST00000615748.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:241,18,0 1 156379184 rs6662317 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf61;Func=intronic;Gene=NM_001320453,NM_001320454,NM_001320455,NM_006365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368243.5,ENST00000615748.4;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 156406381 rs11264483 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320453,NM_005920;GeneDetail=dist\x3e7041\x3bdist\x3e27132;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.5259;1000g2015aug_all=0.481829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156431341 rs1171556 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320453,NM_005920;GeneDetail=dist\x3e32001\x3bdist\x3e2172;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9207;1000g2015aug_all=0.953275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156446242 rs2274316 C A 1996.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368240.6,ENST00000360595.7,ENST00000464356.6,ENST00000348159.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMigraine,Migraine_-_clinic-based;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.671;1000g2015aug_afr=0.236;1000g2015aug_amr=0.5937;1000g2015aug_all=0.571086;esp6500siv2_all=0.5403;ExAC_ALL=0.6259;ExAC_AFR=0.3084;ExAC_AMR=0.5596;ExAC_EAS=0.7210;ExAC_FIN=0.5774;ExAC_NFE=0.6597;ExAC_OTH=0.6319;ExAC_SAS=0.6877;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2025,188,0 1 156446450 rs12131289 C T 1278.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=2.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368240.6,ENST00000348159.8,ENST00000360595.7,ENST00000464356.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12131289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.671;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.5951;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1307,117,0 1 156446903 rs2274317 T C 2688.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=1.32;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=exonic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MEF2D:NM_001271629:exon7:c.A756G:p.P252P,MEF2D:NM_005920:exon7:c.A756G:p.P252P;Gencode=Name\x3eENST00000348159.8,ENST00000464356.6,ENST00000360595.7,ENST00000368240.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7147;1000g2015aug_eur=0.672;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.5951;1000g2015aug_all=0.571685;esp6500siv2_all=0.5413;ExAC_ALL=0.6213;ExAC_AFR=0.2979;ExAC_AMR=0.5562;ExAC_EAS=0.7224;ExAC_FIN=0.5753;ExAC_NFE=0.6593;ExAC_OTH=0.6162;ExAC_SAS=0.6828;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2717,249,0 1 156450740 rs1925950 G A 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=exonic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MEF2D:NM_001271629:exon4:c.C282T:p.N94N,MEF2D:NM_005920:exon4:c.C282T:p.N94N;Gencode=Name\x3eENST00000368240.6,ENST00000348159.8,ENST00000360595.7,ENST00000464356.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.673;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.5951;1000g2015aug_all=0.572284;esp6500siv2_all=0.5415;ExAC_ALL=0.6217;ExAC_AFR=0.2998;ExAC_AMR=0.5555;ExAC_EAS=0.7215;ExAC_FIN=0.5712;ExAC_NFE=0.6598;ExAC_OTH=0.6170;ExAC_SAS=0.6831;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 156450873 rs2274319 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368240.6,ENST00000360595.7,ENST00000464356.6,ENST00000348159.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.675;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.6138;1000g2015aug_all=0.651757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 156452783 rs1171559 A T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368240.6,ENST00000348159.8,ENST00000360595.7,ENST00000464356.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.9697;1000g2015aug_amr=0.9481;1000g2015aug_all=0.966054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 156452870 rs2282286 G A 551.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368240.6,ENST00000348159.8,ENST00000464356.6,ENST00000360595.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.673;1000g2015aug_afr=0.236;1000g2015aug_amr=0.5937;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:580,45,0 1 156453247 rs2274320 T A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMEF2D;Func=intronic;Gene=NM_001271629,NM_005920;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360595.7,ENST00000348159.8,ENST00000368240.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.673;1000g2015aug_afr=0.236;1000g2015aug_amr=0.5951;1000g2015aug_all=0.572085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 156496188 rs6427315 A G 3067.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=UTR3;Gene=NM_178229;GeneDetail=NM_178229:c.*90T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.9841;1000g2015aug_all=0.938299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:3096,282,0 1 156503541 rs6699212 T C 955.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.49;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9986;1000g2015aug_all=0.98762;esp6500siv2_all=0.9863;ExAC_ALL=0.9958;ExAC_AFR=0.9542;ExAC_AMR=0.9981;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9952;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:984,78,0 1 156509552 rs1171570 C G 1854.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9986;1000g2015aug_all=0.98762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1883,156,0 1 156520173 rs1778819 T A 1750.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1778819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9554;1000g2015aug_amr=0.9986;1000g2015aug_all=0.988019;esp6500siv2_all=0.9873;ExAC_ALL=0.9960;ExAC_AFR=0.9562;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9954;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1779,168,0 1 156522289 . C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2029\x3bName\x3e"275380:L2a(LINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 156524344 rs6686323 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e297\x3bName\x3e"275387:MIR(SINE)";avsnp150=rs6686323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9885;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 156526234 rs2489139 C T 1552.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.464;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2489139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9885;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1581,138,0 1 156526387 rs11264498 C G 1656.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=exonic;Gene=NM_178229;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IQGAP3:NM_178229:exon12:c.G1228C:p.V410L;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4286;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.5519;1000g2015aug_all=0.378195;esp6500siv2_all=0.5025;ExAC_ALL=0.5376;ExAC_AFR=0.2137;ExAC_AMR=0.5557;ExAC_EAS=0.4542;ExAC_FIN=0.6786;ExAC_NFE=0.6303;ExAC_OTH=0.5564;ExAC_SAS=0.3400;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.97;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.81;MutationAssessor_pred=L;FATHMM_score=2.62;FATHMM_pred=T;phyloP100way_vertebrate=5.954;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=18.056;gerp++gt2=5.54;CADD=5.773;CADD_Phred=27.0;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1685,156,0 1 156526444 rs2488269 T C 1053.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=exonic;Gene=NM_178229;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IQGAP3:NM_178229:exon12:c.A1171G:p.R391G;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2488269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9885;1000g2015aug_all=0.960064;esp6500siv2_all=0.9576;ExAC_ALL=0.9878;ExAC_AFR=0.8655;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9933;ExAC_SAS=0.9997;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.945;MutationTaster_pred=P;MutationAssessor_score=-2.155;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;phyloP100way_vertebrate=3.231;phyloP20way_mammalian=0.040;SiPhy_29way_logOdds=13.383;gerp++gt2=5.54;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1082,90,0 1 156530411 rs1750303 C T 176.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1750303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9885;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:205,15,0 1 156531474 rs1171544 A G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 156531871 rs1171545 A G 1388.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=1.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1417,135,0 1 156532207 rs1171546 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.71;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 156532250 rs1778828 T C 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1778828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 156532252 rs1778827 C T 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1778827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9885;1000g2015aug_all=0.960064;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 156532344 rs7548309 T G 1464.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4633;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.6297;1000g2015aug_all=0.571286;esp6500siv2_all=0.6845;ExAC_ALL=0.6430;ExAC_AFR=0.6293;ExAC_AMR=0.6001;ExAC_EAS=0.4909;ExAC_FIN=0.7218;ExAC_NFE=0.7013;ExAC_OTH=0.6564;ExAC_SAS=0.4936;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1493,132,0 1 156532908 rs16837492 C A 1215.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16837492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.6254;1000g2015aug_all=0.558107;esp6500siv2_all=0.6744;ExAC_ALL=0.6482;ExAC_AFR=0.5969;ExAC_AMR=0.5965;ExAC_EAS=0.4866;ExAC_FIN=0.7213;ExAC_NFE=0.7042;ExAC_OTH=0.6543;ExAC_SAS=0.5162;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1244,114,0 1 156532977 rs1171547 T C 1221.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=exonic;Gene=NM_178229;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IQGAP3:NM_178229:exon8:c.A747G:p.Q249Q;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1171547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=0.9575;ExAC_ALL=0.9878;ExAC_AFR=0.8646;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9934;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1250,111,0 1 156534525 rs4661184 A C 923.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.4168;1000g2015aug_amr=0.6023;1000g2015aug_all=0.501997;esp6500siv2_all=0.6201;ExAC_ALL=0.6154;ExAC_AFR=0.4554;ExAC_AMR=0.5921;ExAC_EAS=0.4712;ExAC_FIN=0.7153;ExAC_NFE=0.6884;ExAC_OTH=0.6291;ExAC_SAS=0.4727;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:952,72,0 1 156534539 rs4661185 G A 625.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.6254;1000g2015aug_all=0.557308;esp6500siv2_all=0.6802;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:654,48,0 1 156536123 rs2066378 T C 1183.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.3;SOR=2.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1212,81,0 1 156536133 rs4382715 A G 1207.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=2.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4382715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=0.9574;ExAC_ALL=0.9876;ExAC_AFR=0.8643;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9932;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:84:1236,84,0 1 156536221 rs2066377 G C 2031.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=exonic;Gene=NM_178229;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IQGAP3:NM_178229:exon3:c.C243G:p.P81P;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=0.9575;ExAC_ALL=0.9878;ExAC_AFR=0.8647;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9934;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2060,192,0 1 156536251 rs947662 T C 2506.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=exonic;Gene=NM_178229;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IQGAP3:NM_178229:exon3:c.A213G:p.L71L;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=0.9575;ExAC_ALL=0.9878;ExAC_AFR=0.8647;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9934;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2535,231,0 1 156536353 rs947663 A G 3592.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=0.955;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=0.9576;ExAC_ALL=0.9879;ExAC_AFR=0.8649;ExAC_AMR=0.9955;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9933;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3621,354,0 1 156536480 rs947664 T C 1169.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=2.517;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1198,99,0 1 156536567 rs947665 G A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.02;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs947665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.854;1000g2015aug_amr=0.9885;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 156538973 rs1778825 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.95;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e959\x3bName\x3e"275405:L1MC5a(LINE)";avsnp150=rs1778825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.969;1000g2015aug_amr=1;1000g2015aug_all=0.991613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 156539154 rs6427319 T C 2207.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIQGAP3;Func=intronic;Gene=NM_178229;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361170.6;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9667;1000g2015aug_amr=1;1000g2015aug_all=0.990815;esp6500siv2_all=0.9892;ExAC_ALL=0.9954;ExAC_AFR=0.9681;ExAC_AMR=0.9984;ExAC_EAS=0.9996;ExAC_FIN=0.9997;ExAC_NFE=0.9973;ExAC_OTH=0.9954;ExAC_SAS=0.9984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2236,200,0 1 156551848 rs6682716 A G 1870.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.91;SOR=2.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC24;Func=exonic;Gene=NM_001105669;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTC24:NM_001105669:exon1:c.A692G:p.E231G;Gencode=Name\x3eENST00000368237.3,ENST00000368236.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.4553;1000g2015aug_all=0.35004;esp6500siv2_all=0.5592;ExAC_ALL=0.5775;ExAC_AFR=0.1734;ExAC_AMR=0.5171;ExAC_EAS=0.3143;ExAC_FIN=0.75;ExAC_NFE=0.7318;ExAC_OTH=0.5417;ExAC_SAS=0.4588;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.221;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-0.99;FATHMM_pred=T;phyloP100way_vertebrate=2.330;phyloP20way_mammalian=1.088;SiPhy_29way_logOdds=9.453;gerp++gt2=3.41;CADD=2.675;CADD_Phred=20.7;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1899,144,0 1 156552720 rs6688600 T G 361.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC24;Func=intronic;Gene=NM_001105669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368237.3,ENST00000368236.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.9424;1000g2015aug_all=0.909545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:390,33,0 1 156553762 rs11264502 A C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC24;Func=intronic;Gene=NM_001105669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368236.7,ENST00000368237.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.8056;1000g2015aug_amr=0.9424;1000g2015aug_all=0.909545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 156555200 rs10796960 G A 644.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.26;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC24;Func=intronic;Gene=NM_001105669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368237.3,ENST00000368236.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:673,51,0 1 156556321 rs10796961 G A 2227.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC24;Func=exonic;Gene=NM_001105669;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTC24:NM_001105669:exon10:c.G1728A:p.S576S;Gencode=Name\x3eENST00000368237.3,ENST00000368236.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10796961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.9063;1000g2015aug_all=0.767971;esp6500siv2_all=0.7965;ExAC_ALL=0.9156;ExAC_AFR=0.3926;ExAC_AMR=0.9561;ExAC_EAS=0.9737;ExAC_FIN=0.9793;ExAC_NFE=0.9681;ExAC_OTH=0.9308;ExAC_SAS=0.9186;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2256,219,0 1 156556606 rs6699526 A G 174.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=UTR3;Gene=NM_001105669;GeneDetail=NM_001105669:c.*264A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6699526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:203,15,0 1 156561414 rs6698493 T C 503.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:532,48,0 1 156561651 rs7516274 G C 1311.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=2.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=exonic;Gene=NM_144772;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NAXE:NM_144772:exon1:c.G55C:p.V19L;Gencode=Name\x3eENST00000368233.3,ENST00000368235.7,ENST00000368234.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"275463:G-rich(Low_complexity)";avsnp150=rs7516274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928714;esp6500siv2_all=0.9477;ExAC_ALL=0.9575;ExAC_AFR=0.8612;ExAC_AMR=0.9796;ExAC_EAS=0.9742;ExAC_FIN=0.9795;ExAC_NFE=0.9712;ExAC_OTH=0.9520;ExAC_SAS=0.9217;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.084;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=0.93;FATHMM_pred=T;phyloP100way_vertebrate=0.183;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.944;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1340,117,0 1 156562008 rs1925949 G A 851.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368234.7,ENST00000368233.3,ENST00000368235.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9316;ExAC_ALL=0.9552;ExAC_AFR=0.8545;ExAC_AMR=0.9789;ExAC_EAS=0.9745;ExAC_FIN=0.9788;ExAC_NFE=0.9704;ExAC_OTH=0.9515;ExAC_SAS=0.9208;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:880,69,0 1 156562143 rs942959 G A 689.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368234.7,ENST00000368233.3,ENST00000368235.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9318;ExAC_ALL=0.9551;ExAC_AFR=0.8544;ExAC_AMR=0.9789;ExAC_EAS=0.9745;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9515;ExAC_SAS=0.9207;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:718,54,0 1 156562930 rs942960 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368234.7,ENST00000368235.7,ENST00000368233.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e459\x3bName\x3e"275464:MIR3(SINE)";avsnp150=rs942960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 156562981 rs942961 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368234.7,ENST00000368235.7,ENST00000368233.3;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 156563025 rs942962 A G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368233.3,ENST00000368235.7,ENST00000368234.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 156563375 rs6427321 G A 4274.77 PASS AC=2;AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=0.895;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=intronic;Gene=NM_144772;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368235.7,ENST00000368233.3,ENST00000368234.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9318;ExAC_ALL=0.9552;ExAC_AFR=0.8550;ExAC_AMR=0.9790;ExAC_EAS=0.9744;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9514;ExAC_SAS=0.9208;SIFT_score=0.097;SIFT_pred=T;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.941;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.47;FATHMM_pred=T;phyloP100way_vertebrate=0.320;phyloP20way_mammalian=-0.353;SiPhy_29way_logOdds=4.729;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,128:128:99:4303,384,0 1 156563726 rs6427322 A C 2979.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=0.969;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=exonic;Gene=NM_144772;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NAXE:NM_144772:exon6:c.A717C:p.I239I;Gencode=Name\x3eENST00000368235.7,ENST00000368234.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9318;ExAC_ALL=0.9551;ExAC_AFR=0.8547;ExAC_AMR=0.9789;ExAC_EAS=0.9745;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9515;ExAC_SAS=0.9207;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.971;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.73;FATHMM_pred=T;phyloP100way_vertebrate=2.256;phyloP20way_mammalian=-0.425;SiPhy_29way_logOdds=4.425;gerp++gt2=2.99;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3008,288,0 1 156563813 rs6668178 G A 1964.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=exonic;Gene=NM_144772;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NAXE:NM_144772:exon6:c.G804A:p.E268E;Gencode=Name\x3eENST00000368234.7,ENST00000368235.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9318;ExAC_ALL=0.9552;ExAC_AFR=0.8545;ExAC_AMR=0.9789;ExAC_EAS=0.9745;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9515;ExAC_SAS=0.9208;SIFT_score=0.7;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.59;FATHMM_pred=T;phyloP100way_vertebrate=3.260;phyloP20way_mammalian=-0.109;SiPhy_29way_logOdds=4.496;gerp++gt2=.;CADD=1.371;CADD_Phred=12.64;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:1993,186,0 1 156563852 rs942963 C T 1216.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.923;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=exonic;Gene=NM_144772;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NAXE:NM_144772:exon6:c.C843T:p.T281T;Gencode=Name\x3eENST00000368235.7,ENST00000368234.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs942963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9318;ExAC_ALL=0.9551;ExAC_AFR=0.8543;ExAC_AMR=0.9789;ExAC_EAS=0.9745;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9515;ExAC_SAS=0.9208;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1245,116,0 1 156563898 rs1270 T C 587.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=UTR3;Gene=NM_144772;GeneDetail=NM_144772:c.*22T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368234.7,ENST00000368235.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=0.9296;ExAC_ALL=0.9551;ExAC_AFR=0.8544;ExAC_AMR=0.9788;ExAC_EAS=0.9744;ExAC_FIN=0.9787;ExAC_NFE=0.9704;ExAC_OTH=0.9514;ExAC_SAS=0.9209;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:616,57,0 1 156563992 rs1271 C G 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOA1BP;Func=UTR3;Gene=NM_144772;GeneDetail=NM_144772:c.*116C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368235.7;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.8638;1000g2015aug_amr=0.9568;1000g2015aug_all=0.928514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 156564922 rs3795733 C T 580.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH4;Func=UTR3;Gene=NM_015590,NM_182679;GeneDetail=NM_015590:c.*83G>A\x3bNM_182679:c.*83G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368232.8;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.6239;1000g2015aug_all=0.435503;esp6500siv2_all=.;ExAC_ALL=0.6206;ExAC_AFR=0.2487;ExAC_AMR=0.6847;ExAC_EAS=0.5296;ExAC_FIN=0.7529;ExAC_NFE=0.7147;ExAC_OTH=0.6518;ExAC_SAS=0.4086;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:609,57,0 1 156567496 rs879461 C T 1111.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH4;Func=intronic;Gene=NM_015590,NM_182679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368232.8,ENST00000438976.6,ENST00000624731.1;cytoBand=1q22;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e395\x3bName\x3e"275469:MIR3(SINE)";avsnp150=rs879461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.6643;1000g2015aug_all=0.520567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1140,99,0 1 156594656 rs12567958 C A 795.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHAPLN2;Func=intronic;Gene=NM_021817;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255039.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12567958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.6311;1000g2015aug_all=0.465256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:824,75,0 1 156595447 rs1135646 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHAPLN2;Func=UTR3;Gene=NM_021817;GeneDetail=NM_021817:c.*271G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255039.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.8646;1000g2015aug_all=0.765176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156600862 rs6698857 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021817,NM_021948;GeneDetail=dist\x3e5345\x3bdist\x3e10878;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1058\x3bName\x3e"275564:MLT1D(LTR)";avsnp150=rs6698857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.866;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 156600864 rs6698858 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021817,NM_021948;GeneDetail=dist\x3e5347\x3bdist\x3e10876;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1058\x3bName\x3e"275564:MLT1D(LTR)";avsnp150=rs6698858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.9573;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.866;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 156626340 rs11582013 C G 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-1.44;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAN;Func=intronic;Gene=NM_021948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329117.9,ENST00000448869.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e265\x3bName\x3e"275612:MIRb(SINE)";avsnp150=rs11582013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0286;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0409345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:228,0,95 1 156626920 rs7524611 T C 4998.77 PASS AC=2;AF=1;AN=2;DP=156;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBCAN;Func=intronic;Gene=NM_021948;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329117.9,ENST00000448869.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=0.9999;ExAC_AFR=0.9999;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,156:156:99:5027,468,0 1 156639000 rs1046650 A G 90.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.372;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=-1.881;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=UTR3;Gene=NM_006617;GeneDetail=NM_006617:c.*114T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.2911;1000g2015aug_all=0.226837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,4:16:99:119,0,385 1 156639636 rs11549292 G A 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.309;DP=79;ExcessHet=3.0103;FS=3.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.623;SOR=0.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NES:NM_006617:exon4:c.C4344T:p.A1448A;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11549292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.2882;1000g2015aug_all=0.224042;esp6500siv2_all=0.2115;ExAC_ALL=0.2603;ExAC_AFR=0.0600;ExAC_AMR=0.2568;ExAC_EAS=0.2690;ExAC_FIN=0.2348;ExAC_NFE=0.2906;ExAC_OTH=0.2584;ExAC_SAS=0.2653;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,40:79:99:1190,0,1047 1 156639753 rs11582300 G A 2420.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=0.75;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NES:NM_006617:exon4:c.C4227T:p.S1409S;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11582300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8611;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.385;1000g2015aug_amr=0.6787;1000g2015aug_all=0.618411;esp6500siv2_all=0.5448;ExAC_ALL=0.6230;ExAC_AFR=0.4002;ExAC_AMR=0.6836;ExAC_EAS=0.8493;ExAC_FIN=0.6064;ExAC_NFE=0.6255;ExAC_OTH=0.5964;ExAC_SAS=0.5881;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2449,210,0 1 156640156 rs3748570 G A 1147.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NES:NM_006617:exon4:c.C3824T:p.P1275L;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.711;1000g2015aug_amr=0.7104;1000g2015aug_all=0.724441;esp6500siv2_all=0.6598;ExAC_ALL=0.6745;ExAC_AFR=0.6941;ExAC_AMR=0.7115;ExAC_EAS=0.8565;ExAC_FIN=0.6574;ExAC_NFE=0.6514;ExAC_OTH=0.6604;ExAC_SAS=0.6387;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.04;MutationAssessor_pred=N;FATHMM_score=-1.7;FATHMM_pred=D;phyloP100way_vertebrate=1.235;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=4.630;gerp++gt2=4.95;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1176,93,0 1 156640308 rs3748571 C T 1247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.638;DP=86;ExcessHet=3.0103;FS=1.734;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.611;SOR=0.52;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NES:NM_006617:exon4:c.G3672A:p.T1224T;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.2882;1000g2015aug_all=0.224241;esp6500siv2_all=0.2101;ExAC_ALL=0.2631;ExAC_AFR=0.0524;ExAC_AMR=0.2558;ExAC_EAS=0.2684;ExAC_FIN=0.2340;ExAC_NFE=0.2926;ExAC_OTH=0.2687;ExAC_SAS=0.2985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,46:86:99:1276,0,1038 1 156640503 rs3828043 C T 732.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.706;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.47;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NES:NM_006617:exon4:c.G3477A:p.G1159G;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.2867;1000g2015aug_all=0.223842;esp6500siv2_all=0.2104;ExAC_ALL=0.2583;ExAC_AFR=0.0521;ExAC_AMR=0.2559;ExAC_EAS=0.2687;ExAC_FIN=0.2342;ExAC_NFE=0.2897;ExAC_OTH=0.2577;ExAC_SAS=0.2667;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,25:49:99:761,0,685 1 156640678 rs2886443 G A 392.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.18;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NES:NM_006617:exon4:c.C3302T:p.P1101L;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2886443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8621;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.67;1000g2015aug_all=0.622204;esp6500siv2_all=0.5589;ExAC_ALL=0.6389;ExAC_AFR=0.4001;ExAC_AMR=0.6892;ExAC_EAS=0.8475;ExAC_FIN=0.6576;ExAC_NFE=0.6459;ExAC_OTH=0.6290;ExAC_SAS=0.5946;SIFT_score=0.628;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.627;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-1.91;FATHMM_pred=D;phyloP100way_vertebrate=-5.265;phyloP20way_mammalian=-0.778;SiPhy_29way_logOdds=4.053;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:42:421,42,0 1 156644729 rs112099817 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=intronic;Gene=NM_006617;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112099817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3413;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.3415;1000g2015aug_all=0.241014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 156646668 rs4278369 A G 833.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNES;Func=exonic;Gene=NM_006617;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NES:NM_006617:exon1:c.T389C:p.V130A;Gencode=Name\x3eENST00000368223.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4278369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9939;1000g2015aug_amr=1;1000g2015aug_all=0.998403;esp6500siv2_all=0.9981;ExAC_ALL=0.9996;ExAC_AFR=0.9943;ExAC_AMR=0.9998;ExAC_EAS=0.9997;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.425;MutationAssessor_pred=N;FATHMM_score=-2.53;FATHMM_pred=D;phyloP100way_vertebrate=0.668;phyloP20way_mammalian=-0.458;SiPhy_29way_logOdds=7.750;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:862,75,0 1 156650023 rs4559494 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006617,NM_001199723;GeneDetail=dist\x3e2834\x3bdist\x3e19377;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1120\x3bName\x3e"275641:L3(LINE)";avsnp150=rs4559494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.662;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.6571;1000g2015aug_all=0.602636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 156663335 rs4565704 G C 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006617,NM_001199723;GeneDetail=dist\x3e16146\x3bdist\x3e6065;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4565704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9464;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.7882;1000g2015aug_all=0.773363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 156670545 rs4661213 C T 530.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRABP2;Func=intronic;Gene=NM_001199723,NM_001878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621784.4,ENST00000368221.1,ENST00000368222.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.9732;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.9697;1000g2015aug_all=0.913139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:559,42,0 1 156670983 rs7519545 T C 187.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRABP2;Func=intronic;Gene=NM_001199723,NM_001878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368222.7,ENST00000368221.1,ENST00000621784.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7519545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=1;1000g2015aug_all=0.991414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:216,18,0 1 156692678 rs4593815 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eISG20L2;Func=UTR3;Gene=NM_001303095;GeneDetail=NM_001303095:c.*463A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368219.1,ENST00000313146.10;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2271\x3bName\x3e"275731:AluSq2(SINE)";avsnp150=rs4593815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156703456 rs10908518 G C 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=intronic;Gene=NM_001142560,NM_015997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476229.5,ENST00000368218.8,ENST00000368216.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.9899;1000g2015aug_all=0.961861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 156705593 rs4311877 G C 4848.77 PASS AC=2;AF=1;AN=2;DP=157;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=0.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=exonic;Gene=NM_001142560,NM_015997;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RRNAD1:NM_001142560:exon6:c.G713C:p.R238P,RRNAD1:NM_015997:exon7:c.G1198C:p.V400L;Gencode=Name\x3eENST00000368216.8,ENST00000368218.8,ENST00000476229.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4311877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9942;1000g2015aug_all=0.971046;esp6500siv2_all=0.9726;ExAC_ALL=0.9922;ExAC_AFR=0.9140;ExAC_AMR=0.9959;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.07;FATHMM_pred=T;phyloP100way_vertebrate=1.192;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=11.449;gerp++gt2=.;CADD=1.039;CADD_Phred=10.88;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,153:153:99:4877,459,0 1 156705822 rs12161427 C T 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.047;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=intronic;Gene=NM_001142560,NM_015997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368216.8,ENST00000368218.8,ENST00000476229.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12161427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.334;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2219;1000g2015aug_all=0.191494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:193,0,247 1 156706259 rs12036794 C T 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=-0.703;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=intronic;Gene=NM_001142560,NM_015997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368216.8,ENST00000476229.5,ENST00000368218.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12036794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.2622;1000g2015aug_all=0.202875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:67:181,0,67 1 156706285 rs3934562 T G 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.969;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.209;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=intronic;Gene=NM_001142560,NM_015997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368216.8,ENST00000476229.5,ENST00000368218.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3934562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.2565;1000g2015aug_all=0.147364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:212,0,185 1 156706559 rs8658 A G 1324.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.455;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRRNAD1;Func=UTR3;Gene=NM_001142560,NM_015997;GeneDetail=NM_001142560:c.*123A>G\x3bNM_015997:c.*14A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000476229.5,ENST00000368218.8,ENST00000368216.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.729;1000g2015aug_eur=0.674;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.817;1000g2015aug_all=0.638179;esp6500siv2_all=0.7161;ExAC_ALL=0.6687;ExAC_AFR=0.6861;ExAC_AMR=0.8382;ExAC_EAS=0.3139;ExAC_FIN=0.6331;ExAC_NFE=0.6807;ExAC_OTH=0.6492;ExAC_SAS=0.6884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1353,129,0 1 156707775 rs6670122 T G 3399.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=34;ReadPosRankSum=1.681;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL24;Func=intronic;Gene=NM_024540,NM_145729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368211.8,ENST00000361531.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6670122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.9899;1000g2015aug_all=0.961661;esp6500siv2_all=0.9655;ExAC_ALL=0.9901;ExAC_AFR=0.8922;ExAC_AMR=0.9950;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9954;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,99:100:99:3428,290,0 1 156708244 rs28697076 C T 1822.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.968;DP=136;ExcessHet=3.0103;FS=4.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.372;SOR=0.782;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMRPL24;Func=intronic;Gene=NM_024540,NM_145729;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361531.6,ENST00000368211.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28697076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.2695;1000g2015aug_all=0.218251;esp6500siv2_all=0.2351;ExAC_ALL=0.2318;ExAC_AFR=0.2158;ExAC_AMR=0.2669;ExAC_EAS=0.0946;ExAC_FIN=0.1707;ExAC_NFE=0.2331;ExAC_OTH=0.2015;ExAC_SAS=0.3103;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,62:136:99:1851,0,1982 1 156713512 rs4437869 C T 930.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHDGF;Func=exonic;Gene=NM_001126050,NM_001126051,NM_001319186,NM_001319187,NM_001319188,NM_004494;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HDGF:NM_001126050:exon5:c.G696A:p.E232E,HDGF:NM_001126051:exon5:c.G627A:p.E209E,HDGF:NM_001319186:exon5:c.G717A:p.E239E,HDGF:NM_001319187:exon5:c.G552A:p.E184E,HDGF:NM_004494:exon5:c.G648A:p.E216E,HDGF:NM_001319188:exon6:c.G552A:p.E184E;Gencode=Name\x3eENST00000368209.9,ENST00000537739.5,ENST00000368206.5,ENST00000357325.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.92132\x3bName\x3echrX:131646657;Repeat=Score\x3e20\x3bName\x3e"275766:(CCTCTT)n(Simple_repeat)";avsnp150=rs4437869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.9899;1000g2015aug_all=0.962061;esp6500siv2_all=0.9652;ExAC_ALL=0.9896;ExAC_AFR=0.8885;ExAC_AMR=0.9947;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9951;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:959,87,0 1 156713558 rs4399146 G A 317.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.384;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.785;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHDGF;Func=exonic;Gene=NM_001126050,NM_001126051,NM_001319186,NM_001319187,NM_001319188,NM_004494;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HDGF:NM_001126050:exon5:c.C650T:p.P217L,HDGF:NM_001126051:exon5:c.C581T:p.P194L,HDGF:NM_001319186:exon5:c.C671T:p.P224L,HDGF:NM_001319187:exon5:c.C506T:p.P169L,HDGF:NM_004494:exon5:c.C602T:p.P201L,HDGF:NM_001319188:exon6:c.C506T:p.P169L;Gencode=Name\x3eENST00000368206.5,ENST00000357325.9,ENST00000537739.5,ENST00000368209.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.92132\x3bName\x3echrX:131646657;Repeat=.;avsnp150=rs4399146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.334;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2219;1000g2015aug_all=0.192093;esp6500siv2_all=0.2664;ExAC_ALL=0.2854;ExAC_AFR=0.1051;ExAC_AMR=0.1575;ExAC_EAS=0.1115;ExAC_FIN=0.3517;ExAC_NFE=0.3512;ExAC_OTH=0.3110;ExAC_SAS=0.2825;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.925;LRT_pred=U;MutationTaster_score=0.632;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=L;FATHMM_score=1.67;FATHMM_pred=T;phyloP100way_vertebrate=0.762;phyloP20way_mammalian=0.098;SiPhy_29way_logOdds=6.777;gerp++gt2=.;CADD=4.277;CADD_Phred=24.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:346,0,551 1 156715378 rs72712156 C T 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.055;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.076;SOR=0.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHDGF;Func=intronic;Gene=NM_001126050,NM_001126051,NM_001319186,NM_001319187,NM_001319188,NM_004494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357325.9,ENST00000368206.5,ENST00000537739.5,ENST00000368209.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"275767:L2b(LINE)";avsnp150=rs72712156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0279553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:448,0,822 1 156715427 rs12040421 C T 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.98;ReadPosRankSum=0.98;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHDGF;Func=intronic;Gene=NM_001126050,NM_001126051,NM_001319186,NM_001319187,NM_001319188,NM_004494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357325.9,ENST00000368206.5,ENST00000537739.5,ENST00000368209.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"275767:L2b(LINE)";avsnp150=rs12040421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.2666;1000g2015aug_all=0.208267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,10:15:99:373,0,164 1 156721032 rs12030654 T A 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-1.834;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHDGF;Func=intronic;Gene=NM_001126050,NM_001126051,NM_001319186,NM_001319187,NM_001319188,NM_004494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368206.5,ENST00000357325.9,ENST00000537739.5,ENST00000368209.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12030654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.331;1000g2015aug_afr=0.062;1000g2015aug_amr=0.2118;1000g2015aug_all=0.188299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 156722312 rs55701470 A G 626.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.821;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.529;SOR=0.541;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001126050,NM_001126051,NM_001319186,NM_004494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55701470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0141773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:655,0,607 1 156722424 rs11264535 G C 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001126050,NM_001126051,NM_001319186,NM_004494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e238\x3bName\x3e"275777:MIRc(SINE)";avsnp150=rs11264535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.336;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.2205;1000g2015aug_all=0.193291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,111 1 156737969 rs11264542 C T 2120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.769;DP=196;ExcessHet=3.0103;FS=3.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.148;SOR=0.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRCC;Func=exonic;Gene=NM_005973;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRCC:NM_005973:exon1:c.C406T:p.P136S;Gencode=Name\x3eENST00000271526.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.034;1000g2015aug_amr=0.2277;1000g2015aug_all=0.126997;esp6500siv2_all=0.1417;ExAC_ALL=0.1919;ExAC_AFR=0.1004;ExAC_AMR=0.3043;ExAC_EAS=0.1314;ExAC_FIN=0.2419;ExAC_NFE=0.2320;ExAC_OTH=0.2010;ExAC_SAS=0.1687;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.22;FATHMM_pred=T;phyloP100way_vertebrate=4.375;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=8.491;gerp++gt2=3.08;CADD=2.290;CADD_Phred=18.10;ALLELE_END GT:AD:DP:GQ:PL 0/1:108,87:195:99:2149,0,2702 1 156752048 rs2274503 C G 862.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRCC;Func=intronic;Gene=NM_005973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271526.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.6715;1000g2015aug_all=0.645767;esp6500siv2_all=0.6257;ExAC_ALL=0.6717;ExAC_AFR=0.5182;ExAC_AMR=0.6871;ExAC_EAS=0.8332;ExAC_FIN=0.6375;ExAC_NFE=0.6797;ExAC_OTH=0.6751;ExAC_SAS=0.6544;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:891,81,0 1 156760887 rs11264554 C A 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.291;DP=45;ExcessHet=3.0103;FS=1.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.313;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRCC;Func=intronic;Gene=NM_005973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271526.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7282;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.3602;1000g2015aug_all=0.348442;esp6500siv2_all=0.3195;ExAC_ALL=0.4084;ExAC_AFR=0.1021;ExAC_AMR=0.4026;ExAC_EAS=0.7406;ExAC_FIN=0.4390;ExAC_NFE=0.4131;ExAC_OTH=0.4246;ExAC_SAS=0.3516;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,18:45:99:446,0,652 1 156774697 rs2644610 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005973,NM_001161443;GeneDetail=dist\x3e4088\x3bdist\x3e1338;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.9899;1000g2015aug_all=0.966254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 156784982 rs926103 T C 743.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D2A;Func=exonic;Gene=NM_001161441,NM_001161442,NM_001161443,NM_001161444,NM_003975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SH2D2A:NM_001161443:exon2:c.A71G:p.N24S,SH2D2A:NM_001161441:exon3:c.A155G:p.N52S,SH2D2A:NM_001161442:exon3:c.A101G:p.N34S,SH2D2A:NM_001161444:exon3:c.A155G:p.N52S,SH2D2A:NM_003975:exon3:c.A155G:p.N52S;Gencode=Name\x3eENST00000368198.7,ENST00000368199.7,ENST00000392306.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs926103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8155;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.662;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.6297;1000g2015aug_all=0.59365;esp6500siv2_all=0.5529;ExAC_ALL=0.6612;ExAC_AFR=0.4187;ExAC_AMR=0.6961;ExAC_EAS=0.8311;ExAC_FIN=0.6562;ExAC_NFE=0.6626;ExAC_OTH=0.6776;ExAC_SAS=0.6828;SIFT_score=0.711;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.11;MutationAssessor_pred=N;FATHMM_score=0.55;FATHMM_pred=T;phyloP100way_vertebrate=-1.585;phyloP20way_mammalian=-2.434;SiPhy_29way_logOdds=0.994;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:772,75,0 1 156785356 rs2150906 T C 970.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.382;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D2A;Func=intronic;Gene=NM_001161441,NM_001161442,NM_001161443,NM_001161444,NM_003975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392306.2,ENST00000368199.7,ENST00000368198.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2150906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.8256;1000g2015aug_all=0.823283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:999,84,0 1 156785617 rs1800601 G A 2779.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=0.935;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1,SH2D2A;Func=UTR5;Gene=NM_001007792;GeneDetail=NM_001007792:c.-5G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368198.7,ENST00000392302.6,ENST00000368199.7,ENST00000392306.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1800601;cosmic70=.;CLNALLELEID=364541;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.636;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.444;1000g2015aug_amr=0.6657;1000g2015aug_all=0.636981;esp6500siv2_all=0.6177;ExAC_ALL=0.6674;ExAC_AFR=0.5012;ExAC_AMR=0.6842;ExAC_EAS=0.8218;ExAC_FIN=0.6358;ExAC_NFE=0.6768;ExAC_OTH=0.6781;ExAC_SAS=0.6537;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:2808,270,0 1 156785771 rs7546838 A G 4296.77 PASS AC=2;AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D2A,NTRK1;Func=intronic;Gene=NM_001007792,NM_001161441,NM_001161442,NM_001161443,NM_001161444,NM_003975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368198.7,ENST00000368199.7,ENST00000392302.6,ENST00000392306.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7546838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.661;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.6398;1000g2015aug_all=0.616014;esp6500siv2_all=0.5762;ExAC_ALL=0.6336;ExAC_AFR=0.4541;ExAC_AMR=0.6541;ExAC_EAS=0.8129;ExAC_FIN=0.6094;ExAC_NFE=0.6331;ExAC_OTH=0.6460;ExAC_SAS=0.6466;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:4325,292,0 1 156785779 rs1800600 G A 4308.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.156;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1,SH2D2A;Func=intronic;Gene=NM_001007792,NM_001161441,NM_001161442,NM_001161443,NM_001161444,NM_003975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392302.6,ENST00000368199.7,ENST00000392306.2,ENST00000368198.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1800600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.534;1000g2015aug_amr=0.6744;1000g2015aug_all=0.662939;esp6500siv2_all=0.6404;ExAC_ALL=0.6705;ExAC_AFR=0.5732;ExAC_AMR=0.6758;ExAC_EAS=0.8141;ExAC_FIN=0.6307;ExAC_NFE=0.6728;ExAC_OTH=0.6842;ExAC_SAS=0.6571;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:4337,298,0 1 156814027 rs56252149 G A 1148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.128;DP=106;ExcessHet=3.0103;FS=4.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.086;SOR=0.854;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1,INSRR;Func=exonic;Gene=NM_014215;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=INSRR:NM_014215:exon15:c.C2783T:p.P928L;Gencode=Name\x3eENST00000368195.3,ENST00000392302.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56252149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.1816;1000g2015aug_all=0.183906;esp6500siv2_all=0.1874;ExAC_ALL=0.1680;ExAC_AFR=0.2461;ExAC_AMR=0.1710;ExAC_EAS=0.1154;ExAC_FIN=0.1141;ExAC_NFE=0.1613;ExAC_OTH=0.1330;ExAC_SAS=0.1953;SIFT_score=0.822;SIFT_pred=T;Polyphen2_HDIV_score=0.97;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.863;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.85;MutationAssessor_pred=M;FATHMM_score=-0.73;FATHMM_pred=T;phyloP100way_vertebrate=5.138;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=15.408;gerp++gt2=5.18;CADD=1.222;CADD_Phred=11.86;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,50:106:99:1177,0,1581 1 156814478 rs41267423 G A 1329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.61;DP=90;ExcessHet=3.0103;FS=1.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=1.149;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1,INSRR;Func=intronic;Gene=NM_001007792,NM_014215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368195.3,ENST00000392302.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41267423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.1431;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.1585;1000g2015aug_all=0.154752;esp6500siv2_all=0.1552;ExAC_ALL=0.1524;ExAC_AFR=0.1573;ExAC_AMR=0.1447;ExAC_EAS=0.1578;ExAC_FIN=0.1019;ExAC_NFE=0.1571;ExAC_OTH=0.1378;ExAC_SAS=0.1534;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,48:90:99:1358,0,1198 1 156818647 rs11590051 T C 600.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.891;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.799;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eINSRR,NTRK1;Func=intronic;Gene=NM_001007792,NM_014215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368195.3,ENST00000392302.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.2032;1000g2015aug_all=0.100839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,25:69:99:629,0,1187 1 156841259 rs2644614 A C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=intronic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368196.7,ENST00000392302.6,ENST00000358660.3,ENST00000524377.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644614;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.9971;1000g2015aug_all=0.977835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 156846233 rs6334 G A 1569.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.234;DP=139;ExcessHet=3.0103;FS=2.133;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.253;SOR=0.525;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=exonic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NTRK1:NM_001012331:exon13:c.G1656A:p.Q552Q,NTRK1:NM_001007792:exon14:c.G1566A:p.Q522Q,NTRK1:NM_002529:exon14:c.G1674A:p.Q558Q;Gencode=Name\x3eENST00000358660.3,ENST00000524377.5,ENST00000368196.7,ENST00000392302.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6334;cosmic70=.;CLNALLELEID=276641;CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified;CLNDISDB=MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED_CT:62985007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.2205;1000g2015aug_all=0.212859;esp6500siv2_all=0.1936;ExAC_ALL=0.2203;ExAC_AFR=0.1350;ExAC_AMR=0.2174;ExAC_EAS=0.3553;ExAC_FIN=0.2096;ExAC_NFE=0.2145;ExAC_OTH=0.2220;ExAC_SAS=0.2327;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,67:139:99:1598,0,1792 1 156848995 rs6337 C T 604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.418;DP=43;ExcessHet=3.0103;FS=7.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.71;SOR=0.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=exonic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NTRK1:NM_001012331:exon14:c.C1869T:p.A623A,NTRK1:NM_001007792:exon15:c.C1779T:p.A593A,NTRK1:NM_002529:exon15:c.C1887T:p.A629A;Gencode=Name\x3eENST00000524377.5,ENST00000358660.3,ENST00000392302.6,ENST00000368196.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6337;cosmic70=.;CLNALLELEID=142267;CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified;CLNDISDB=MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED_CT:62985007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.5735;1000g2015aug_all=0.334065;esp6500siv2_all=0.5568;ExAC_ALL=0.5724;ExAC_AFR=0.2049;ExAC_AMR=0.5699;ExAC_EAS=0.0365;ExAC_FIN=0.7328;ExAC_NFE=0.7286;ExAC_OTH=0.6141;ExAC_SAS=0.3894;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,24:43:99:633,0,596 1 156850104 rs2274499 G C 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=intronic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392302.6,ENST00000368196.7,ENST00000524377.5,ENST00000358660.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.8256;1000g2015aug_all=0.666334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 156850112 rs2274500 T G 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=intronic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524377.5,ENST00000358660.3,ENST00000392302.6,ENST00000368196.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.635;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.8271;1000g2015aug_all=0.666733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 156851041 rs2768758 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTRK1;Func=intronic;Gene=NM_001007792,NM_001012331,NM_002529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358660.3,ENST00000524377.5,ENST00000368196.7,ENST00000392302.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2768758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9153;1000g2015aug_amr=0.9986;1000g2015aug_all=0.977436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 156875092 rs4661074 G A 3661.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=1.339;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292357.7,ENST00000338302.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.5735;1000g2015aug_all=0.394968;esp6500siv2_all=0.6060;ExAC_ALL=0.6280;ExAC_AFR=0.2266;ExAC_AMR=0.5315;ExAC_EAS=0.1746;ExAC_FIN=0.8085;ExAC_NFE=0.7906;ExAC_OTH=0.6761;ExAC_SAS=0.4507;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:3690,247,0 1 156875097 rs4661075 G A 3884.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=1.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292357.7,ENST00000338302.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.585;1000g2015aug_all=0.442492;esp6500siv2_all=0.6362;ExAC_ALL=0.6444;ExAC_AFR=0.3191;ExAC_AMR=0.5372;ExAC_EAS=0.2158;ExAC_FIN=0.8217;ExAC_NFE=0.7943;ExAC_OTH=0.6865;ExAC_SAS=0.4681;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:3913,265,0 1 156875107 rs2644590 C A 4134.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.5735;1000g2015aug_all=0.391973;esp6500siv2_all=0.6026;ExAC_ALL=0.6266;ExAC_AFR=0.2148;ExAC_AMR=0.5293;ExAC_EAS=0.1736;ExAC_FIN=0.8072;ExAC_NFE=0.7906;ExAC_OTH=0.6763;ExAC_SAS=0.4519;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:4163,292,0 1 156875377 rs2644591 G C 771.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.7776;1000g2015aug_amr=0.9697;1000g2015aug_all=0.910144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:800,66,0 1 156875482 rs116086124 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.282;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292357.7,ENST00000338302.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116086124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0167732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 156875985 rs2644593 G A 1791.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8986;1000g2015aug_amr=0.9957;1000g2015aug_all=0.972644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1820,170,0 1 156877457 rs1952294 T C 2365.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=1.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=exonic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PEAR1:NM_001080471:exon7:c.T700C:p.S234P;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1952294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.91;1000g2015aug_amr=0.9971;1000g2015aug_all=0.975839;esp6500siv2_all=0.9768;ExAC_ALL=0.9936;ExAC_AFR=0.9301;ExAC_AMR=0.9977;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=0.9997;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.155;MutationAssessor_pred=N;FATHMM_score=0.69;FATHMM_pred=T;phyloP100way_vertebrate=1.710;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=7.681;gerp++gt2=5.04;CADD=1.087;CADD_Phred=11.15;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2394,210,0 1 156883493 rs11264581 G A 920.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.721;DP=50;ExcessHet=3.0103;FS=6.416;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.42;ReadPosRankSum=-0.635;SOR=0.208;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=exonic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PEAR1:NM_001080471:exon21:c.G2654A:p.R885H;Gencode=Name\x3eENST00000292357.7,ENST00000338302.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.2954;1000g2015aug_all=0.231829;esp6500siv2_all=0.1438;ExAC_ALL=0.2186;ExAC_AFR=0.0656;ExAC_AMR=0.3375;ExAC_EAS=0.4611;ExAC_FIN=0.2187;ExAC_NFE=0.1908;ExAC_OTH=0.2110;ExAC_SAS=0.2142;SIFT_score=0.577;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.259;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-2.45;FATHMM_pred=D;phyloP100way_vertebrate=-0.435;phyloP20way_mammalian=-0.764;SiPhy_29way_logOdds=5.093;gerp++gt2=.;CADD=1.846;CADD_Phred=15.26;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,34:50:99:949,0,437 1 156883546 rs12137505 A G 2748.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=exonic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PEAR1:NM_001080471:exon21:c.A2707G:p.N903D;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12137505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.5591;1000g2015aug_all=0.451078;esp6500siv2_all=0.3549;ExAC_ALL=0.4337;ExAC_AFR=0.2593;ExAC_AMR=0.6125;ExAC_EAS=0.5871;ExAC_FIN=0.4086;ExAC_NFE=0.3976;ExAC_OTH=0.4040;ExAC_SAS=0.4957;SIFT_score=0.359;SIFT_pred=T;Polyphen2_HDIV_score=0.094;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.933;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=-2.37;FATHMM_pred=D;phyloP100way_vertebrate=-0.337;phyloP20way_mammalian=-0.351;SiPhy_29way_logOdds=6.234;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2777,246,0 1 156884103 rs703156 T A 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000292357.7,ENST00000338302.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e215\x3bName\x3e"276120:MIRb(SINE)";avsnp150=rs703156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.174;1000g2015aug_afr=0.5673;1000g2015aug_amr=0.2003;1000g2015aug_all=0.302716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 156884365 rs749256 T C 795.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=intronic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"276121:(TGGAG)n(Simple_repeat)";avsnp150=rs749256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.956;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.8602;1000g2015aug_all=0.910343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:824,69,0 1 156884584 rs56260937 C T 693.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=55;ExcessHet=3.0103;FS=1.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.7;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEAR1;Func=exonic;Gene=NM_001080471;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PEAR1:NM_001080471:exon23:c.C3108T:p.D1036D;Gencode=Name\x3eENST00000338302.7,ENST00000292357.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56260937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.173;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.1628;1000g2015aug_all=0.1873;esp6500siv2_all=0.1667;ExAC_ALL=0.1720;ExAC_AFR=0.1539;ExAC_AMR=0.1367;ExAC_EAS=0.3173;ExAC_FIN=0.1705;ExAC_NFE=0.1644;ExAC_OTH=0.1947;ExAC_SAS=0.1623;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,26:55:99:722,0,774 1 156890672 rs41273221 T C 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.718;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=0.165;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=exonic;Gene=NM_144702;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRC71:NM_144702:exon1:c.T77C:p.V26A;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41273221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1604;1000g2015aug_amr=0.1628;1000g2015aug_all=0.188698;esp6500siv2_all=.;ExAC_ALL=0.1716;ExAC_AFR=0.1459;ExAC_AMR=0.1608;ExAC_EAS=0.3473;ExAC_FIN=0.1389;ExAC_NFE=0.1780;ExAC_OTH=0.1548;ExAC_SAS=0.1614;SIFT_score=0.06;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.917;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=1.81;FATHMM_pred=T;phyloP100way_vertebrate=0.042;phyloP20way_mammalian=0.079;SiPhy_29way_logOdds=4.422;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:97:264,0,97 1 156894006 rs822438 C G 594.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.7089;1000g2015aug_all=0.763379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:623,57,0 1 156894613 rs12117221 G T 992.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.26;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.389;SOR=0.705;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12117221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.1643;1000g2015aug_all=0.196286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,33:70:99:1021,0,1246 1 156894825 rs72698699 C T 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.072;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-0.969;SOR=0.817;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72698699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1816;1000g2015aug_all=0.220647;esp6500siv2_all=0.1956;ExAC_ALL=0.2106;ExAC_AFR=0.1998;ExAC_AMR=0.1832;ExAC_EAS=0.3641;ExAC_FIN=0.2482;ExAC_NFE=0.1968;ExAC_OTH=0.2059;ExAC_SAS=0.2152;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,26:43:99:744,0,445 1 156897967 rs866068 G C 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs866068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.2133;1000g2015aug_all=0.295927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:145,0,111 1 156899288 rs11264584 G A 587.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.36;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.183;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11264584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.1628;1000g2015aug_all=0.197085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:616,0,691 1 156899592 rs822427 A G 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.851;DP=21;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-1.057;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.4592;1000g2015aug_amr=0.2133;1000g2015aug_all=0.300519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:363,0,274 1 156899682 rs12122442 G A 57.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.944;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=0.931;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.1643;1000g2015aug_all=0.197284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,3:13:86:86,0,345 1 156901888 rs822429 T C 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.718;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.116;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=intronic;Gene=NM_144702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.229;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.2147;1000g2015aug_all=0.31849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:395,0,262 1 156902222 rs12119908 G A 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.301;DP=18;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=0.888;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=exonic;Gene=NM_144702;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRC71:NM_144702:exon14:c.G1448A:p.R483H;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12119908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.1643;1000g2015aug_all=0.199681;esp6500siv2_all=0.1740;ExAC_ALL=0.1779;ExAC_AFR=0.1939;ExAC_AMR=0.1458;ExAC_EAS=0.3198;ExAC_FIN=0.1711;ExAC_NFE=0.1660;ExAC_OTH=0.2039;ExAC_SAS=0.1661;SIFT_score=0.008;SIFT_pred=D;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.403;Polyphen2_HVAR_pred=B;LRT_score=0.564;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.61;FATHMM_pred=T;phyloP100way_vertebrate=0.179;phyloP20way_mammalian=-0.216;SiPhy_29way_logOdds=7.259;gerp++gt2=2.13;CADD=3.295;CADD_Phred=22.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:121,0,421 1 156902259 rs822430 G A 959.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=exonic;Gene=NM_144702;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRRC71:NM_144702:exon14:c.G1485A:p.T495T;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8492;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.888;1000g2015aug_amr=0.7061;1000g2015aug_all=0.754792;esp6500siv2_all=0.6404;ExAC_ALL=0.6262;ExAC_AFR=0.8447;ExAC_AMR=0.7463;ExAC_EAS=0.8664;ExAC_FIN=0.5524;ExAC_NFE=0.5318;ExAC_OTH=0.5949;ExAC_SAS=0.6990;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:988,93,0 1 156902281 rs822431 T G 386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.8;DP=34;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.89;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRC71;Func=exonic;Gene=NM_144702;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LRRC71:NM_144702:exon14:c.T1507G:p.S503A;Gencode=Name\x3eENST00000337428.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.175;1000g2015aug_afr=0.447;1000g2015aug_amr=0.2997;1000g2015aug_all=0.282947;esp6500siv2_all=0.2511;ExAC_ALL=0.2127;ExAC_AFR=0.4177;ExAC_AMR=0.3119;ExAC_EAS=0.3230;ExAC_FIN=0.1728;ExAC_NFE=0.1702;ExAC_OTH=0.2199;ExAC_SAS=0.1512;SIFT_score=0.572;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.462;LRT_pred=N;MutationTaster_score=0.993;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.06;FATHMM_pred=T;phyloP100way_vertebrate=-0.033;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=0.465;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:415,0,529 1 156906450 rs883232 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs883232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.3199;1000g2015aug_all=0.23722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 156906881 rs2275198 G A 519.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.962;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.414;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1641;1000g2015aug_amr=0.1628;1000g2015aug_all=0.190895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:548,0,706 1 156906910 rs868187 C T 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.531;DP=43;ExcessHet=3.0103;FS=2.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.668;SOR=1.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs868187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.2176;1000g2015aug_all=0.316494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:668,0,732 1 156907031 rs4570419 C T 1203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=88;ExcessHet=3.0103;FS=1.733;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.532;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4570419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2877;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.174;1000g2015aug_afr=0.2746;1000g2015aug_amr=0.1787;1000g2015aug_all=0.223442;esp6500siv2_all=0.2068;ExAC_ALL=0.1874;ExAC_AFR=0.2709;ExAC_AMR=0.1496;ExAC_EAS=0.3240;ExAC_FIN=0.1714;ExAC_NFE=0.1700;ExAC_OTH=0.2067;ExAC_SAS=0.1680;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,47:87:99:1232,0,1001 1 156907081 rs945508 T C 3041.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=exonic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF11:NM_014784:exon38:c.A4280G:p.H1427R,ARHGEF11:NM_198236:exon39:c.A4400G:p.H1467R;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.888;1000g2015aug_amr=0.7233;1000g2015aug_all=0.76238;esp6500siv2_all=0.6503;ExAC_ALL=0.6393;ExAC_AFR=0.8478;ExAC_AMR=0.7541;ExAC_EAS=0.8678;ExAC_FIN=0.5652;ExAC_NFE=0.5485;ExAC_OTH=0.6090;ExAC_SAS=0.7063;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.980;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-0.11;FATHMM_pred=T;phyloP100way_vertebrate=-0.452;phyloP20way_mammalian=-0.767;SiPhy_29way_logOdds=11.272;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:3070,276,0 1 156907115 rs868188 T C 1206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.286;DP=84;ExcessHet=3.0103;FS=4.183;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.697;SOR=1.016;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=exonic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGEF11:NM_014784:exon38:c.A4246G:p.S1416G,ARHGEF11:NM_198236:exon39:c.A4366G:p.S1456G;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs868188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.5014;1000g2015aug_all=0.40655;esp6500siv2_all=0.3117;ExAC_ALL=0.3943;ExAC_AFR=0.2301;ExAC_AMR=0.5795;ExAC_EAS=0.4909;ExAC_FIN=0.3752;ExAC_NFE=0.3560;ExAC_OTH=0.3767;ExAC_SAS=0.4807;SIFT_score=0.113;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.175;LRT_pred=N;MutationTaster_score=0.992;MutationTaster_pred=P;MutationAssessor_score=1.935;MutationAssessor_pred=L;FATHMM_score=-0.34;FATHMM_pred=T;phyloP100way_vertebrate=1.105;phyloP20way_mammalian=0.993;SiPhy_29way_logOdds=7.654;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,41:83:99:1235,0,1166 1 156909303 rs3818807 T A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.994;DP=32;ExcessHet=3.0103;FS=8.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.345;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.1643;1000g2015aug_all=0.198682;esp6500siv2_all=0.1778;ExAC_ALL=0.1769;ExAC_AFR=0.1912;ExAC_AMR=0.1432;ExAC_EAS=0.3207;ExAC_FIN=0.1699;ExAC_NFE=0.1659;ExAC_OTH=0.1973;ExAC_SAS=0.1631;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:374,0,530 1 156909695 rs2275199 G A 1238.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.84;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.171;SOR=0.605;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=exonic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF11:NM_014784:exon36:c.C3621T:p.N1207N,ARHGEF11:NM_198236:exon37:c.C3741T:p.N1247N;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.1628;1000g2015aug_all=0.190695;esp6500siv2_all=0.1683;ExAC_ALL=0.1738;ExAC_AFR=0.1603;ExAC_AMR=0.1412;ExAC_EAS=0.3203;ExAC_FIN=0.1707;ExAC_NFE=0.1654;ExAC_OTH=0.1960;ExAC_SAS=0.1630;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,49:74:99:1267,0,583 1 156910908 rs6675748 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.6543;1000g2015aug_amr=0.2205;1000g2015aug_all=0.354233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 156911379 rs2275200 A G 842.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.117;DP=61;ExcessHet=3.0103;FS=1.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.672;SOR=0.862;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.183;1000g2015aug_all=0.233427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:871,0,983 1 156914070 rs16837807 C A 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.074;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.183;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16837807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.2003;1000g2015aug_all=0.257987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,17:37:99:527,0,679 1 156915038 rs2275201 C T 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.326;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.775;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.228;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.2205;1000g2015aug_all=0.354034;esp6500siv2_all=0.3368;ExAC_ALL=0.2454;ExAC_AFR=0.6122;ExAC_AMR=0.1744;ExAC_EAS=0.3785;ExAC_FIN=0.1895;ExAC_NFE=0.1919;ExAC_OTH=0.2304;ExAC_SAS=0.2323;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,12:34:99:262,0,596 1 156918137 rs12138039 C T 1932.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.421;DP=129;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.385;SOR=0.7;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=exonic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ARHGEF11:NM_014784:exon22:c.G1959A:p.S653S,ARHGEF11:NM_198236:exon23:c.G2079A:p.S693S;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0557;1000g2015aug_afr=0.003;1000g2015aug_amr=0.013;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0352;ExAC_ALL=0.0390;ExAC_AFR=0.0073;ExAC_AMR=0.0105;ExAC_EAS=0;ExAC_FIN=0.1180;ExAC_NFE=0.0534;ExAC_OTH=0.0475;ExAC_SAS=0.0092;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,68:129:99:1961,0,1854 1 156925435 rs2275204 T C 1011.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.125;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.774;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.175;1000g2015aug_afr=0.27;1000g2015aug_amr=0.1758;1000g2015aug_all=0.221845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,37:89:99:1040,0,1452 1 156927751 rs12132684 T C 404.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.85;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.218;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e224\x3bName\x3e"276181:L2a(LINE)";avsnp150=rs12132684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.1916;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:433,0,324 1 156928776 rs1572409 A T 1704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.919;DP=125;ExcessHet=3.0103;FS=2.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.124;SOR=0.467;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1572409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.174;1000g2015aug_afr=0.261;1000g2015aug_amr=0.1715;1000g2015aug_all=0.219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,63:125:99:1733,0,1963 1 156933613 rs1336150 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1336150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.4971;1000g2015aug_all=0.403355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:75:75,0,108 1 156939067 rs2275206 G A 777.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.111;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.125;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.175;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.1628;1000g2015aug_all=0.184105;esp6500siv2_all=0.1624;ExAC_ALL=0.2885;ExAC_AFR=0.2197;ExAC_AMR=0.2935;ExAC_EAS=0.4632;ExAC_FIN=0.3697;ExAC_NFE=0.2905;ExAC_OTH=0.2848;ExAC_SAS=0.2153;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:806,0,634 1 156939175 rs1336149 C T 971.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.75;DP=86;ExcessHet=3.0103;FS=2.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.231;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1336149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.4891;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.67;1000g2015aug_all=0.715256;esp6500siv2_all=0.5821;ExAC_ALL=0.6345;ExAC_AFR=0.7873;ExAC_AMR=0.7468;ExAC_EAS=0.8611;ExAC_FIN=0.5925;ExAC_NFE=0.5377;ExAC_OTH=0.5894;ExAC_SAS=0.6822;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,37:86:99:1000,0,1171 1 156941412 rs12136088 T G 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.673;DP=78;ExcessHet=3.0103;FS=4.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.135;SOR=0.312;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.1718;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.149;1000g2015aug_amr=0.1628;1000g2015aug_all=0.190096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,30:78:99:808,0,1375 1 156946898 rs1006168 T G 1041.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.417;DP=84;ExcessHet=3.0103;FS=0.827;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.413;SOR=0.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.1671;1000g2015aug_all=0.217452;esp6500siv2_all=0.1972;ExAC_ALL=0.1864;ExAC_AFR=0.2382;ExAC_AMR=0.1487;ExAC_EAS=0.3464;ExAC_FIN=0.1789;ExAC_NFE=0.1687;ExAC_OTH=0.1987;ExAC_SAS=0.1709;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,39:84:99:1070,0,1070 1 156947928 rs16837897 T C 1058.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.24;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.147;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16837897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.1671;1000g2015aug_all=0.216653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,46:99:99:1087,0,1255 1 156947953 rs12141806 A T 1131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.557;DP=105;ExcessHet=3.0103;FS=1.568;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.69;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.1643;1000g2015aug_all=0.202077;esp6500siv2_all=0.1770;ExAC_ALL=0.1812;ExAC_AFR=0.1915;ExAC_AMR=0.1458;ExAC_EAS=0.3469;ExAC_FIN=0.1793;ExAC_NFE=0.1670;ExAC_OTH=0.1976;ExAC_SAS=0.1702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,50:105:99:1160,0,1539 1 156948880 rs1007604 C A 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.414;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1007604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.2321;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.1873;1000g2015aug_all=0.251398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:208,0,246 1 156954267 rs6427339 C T 4642.77 PASS AC=2;AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.5375;1000g2015aug_all=0.591853;esp6500siv2_all=0.4874;ExAC_ALL=0.4908;ExAC_AFR=0.6798;ExAC_AMR=0.5177;ExAC_EAS=0.7972;ExAC_FIN=0.4915;ExAC_NFE=0.4129;ExAC_OTH=0.3904;ExAC_SAS=0.4564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,138:138:99:4671,414,0 1 156954384 rs6427340 T C 1480.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.5288;1000g2015aug_all=0.549321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1509,111,0 1 156954433 rs7541702 T C 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.23;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=1.024;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2946;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.149;1000g2015aug_amr=0.1628;1000g2015aug_all=0.189896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:361,0,268 1 156956057 rs3737599 T C 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.822;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.034;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361409.2,ENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.3199;1000g2015aug_all=0.23742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,12:31:99:374,0,606 1 156956261 rs3737600 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=intronic;Gene=NM_014784,NM_198236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7,ENST00000361409.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.1671;1000g2015aug_all=0.216853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157015026 rs3806422 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGEF11;Func=UTR5;Gene=NM_014784,NM_198236;GeneDetail=NM_014784:c.-904G>T\x3bNM_198236:c.-904G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368194.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.3127;1000g2015aug_all=0.234026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157030204 rs3795741 G T 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.328;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.328;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014784,NM_001004341;GeneDetail=dist\x3e15042\x3bdist\x3e31631;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.3184;1000g2015aug_all=0.242612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:112,0,70 1 157043044 rs2316334 T C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014784,NM_001004341;GeneDetail=dist\x3e27882\x3bdist\x3e18791;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.946023\x3bName\x3echr8:61578141;Repeat=.;avsnp150=rs2316334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 157043969 rs16865471 T C 324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.59;DP=20;ExcessHet=3.0103;FS=8.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.532;SOR=0.065;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014784,NM_001004341;GeneDetail=dist\x3e28807\x3bdist\x3e17866;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.946023\x3bName\x3echr8:61578141;Repeat=.;avsnp150=rs16865471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.3213;1000g2015aug_all=0.243411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:353,0,316 1 157044627 rs9628663 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014784,NM_001004341;GeneDetail=dist\x3e29465\x3bdist\x3e17208;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.946023\x3bName\x3echr8:61578141;Repeat=.;avsnp150=rs9628663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9986;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 157062575 rs12126791 T C 1882.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.419;DP=120;ExcessHet=3.0103;FS=5.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.182;SOR=0.672;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETV3L;Func=exonic;Gene=NM_001004341;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ETV3L:NM_001004341:exon5:c.A952G:p.M318V;Gencode=Name\x3eENST00000454449.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0199681;esp6500siv2_all=0.0404;ExAC_ALL=0.0394;ExAC_AFR=0.0074;ExAC_AMR=0.0339;ExAC_EAS=0;ExAC_FIN=0.0402;ExAC_NFE=0.0545;ExAC_OTH=0.0474;ExAC_SAS=0.0220;SIFT_score=0.242;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.255;MutationAssessor_pred=N;FATHMM_score=1.46;FATHMM_pred=T;phyloP100way_vertebrate=-0.968;phyloP20way_mammalian=-0.424;SiPhy_29way_logOdds=2.225;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,65:120:99:1911,0,1436 1 157062739 rs12136960 C G 1003.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.12;DP=80;ExcessHet=3.0103;FS=3.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.018;SOR=1.089;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETV3L;Func=exonic;Gene=NM_001004341;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ETV3L:NM_001004341:exon5:c.G788C:p.G263A;Gencode=Name\x3eENST00000454449.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.1311;1000g2015aug_all=0.153155;esp6500siv2_all=0.1688;ExAC_ALL=0.1877;ExAC_AFR=0.1166;ExAC_AMR=0.0930;ExAC_EAS=0.2467;ExAC_FIN=0.2730;ExAC_NFE=0.2086;ExAC_OTH=0.2120;ExAC_SAS=0.1479;SIFT_score=0.031;SIFT_pred=D;Polyphen2_HDIV_score=0.734;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=1.29;FATHMM_pred=T;phyloP100way_vertebrate=1.122;phyloP20way_mammalian=-0.422;SiPhy_29way_logOdds=6.740;gerp++gt2=.;CADD=2.997;CADD_Phred=22.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,37:80:99:1032,0,1145 1 157143423 rs2001762 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e35042\x3bdist\x3e339744;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2001762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.5533;1000g2015aug_all=0.496605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157143490 rs2004706 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e35109\x3bdist\x3e339677;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2004706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.5576;1000g2015aug_all=0.511981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157143512 rs2004705 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e35131\x3bdist\x3e339655;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2004705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.5533;1000g2015aug_all=0.496605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157232534 rs1338691 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e124153\x3bdist\x3e250633;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1338691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.5418;1000g2015aug_all=0.519369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 157246074 rs61799756 G C 344.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.52;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e137693\x3bdist\x3e237093;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10773\x3bName\x3e"276764:HERVFH21-int(LTR)";avsnp150=rs61799756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.3213;1000g2015aug_all=0.262181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:373,39,0 1 157256081 rs12127076 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e147700\x3bdist\x3e227086;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.2911;1000g2015aug_all=0.168331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 157315529 rs57923814 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e207148\x3bdist\x3e167638;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6327\x3bName\x3e"276851:L1PA7(LINE)";avsnp150=rs57923814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 157385771 rs6674833 C A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e277390\x3bdist\x3e97396;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e291\x3bName\x3e"276984:L2b(LINE)";avsnp150=rs6674833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.6326;1000g2015aug_all=0.508187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 157481253 rs4971111 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001145312,NM_001195388;GeneDetail=dist\x3e372872\x3bdist\x3e1914;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.9037\x3bName\x3echr1:157356466;Repeat=Score\x3e908\x3bName\x3e"277143:PABL_B(LTR)";avsnp150=rs4971111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7161;1000g2015aug_all=0.624601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 157485561 rs3811035 G A 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.027;DP=82;ExcessHet=3.0103;FS=4.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=0.922;SOR=0.686;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.684;1000g2015aug_eur=0.6252;1000g2015aug_afr=0.09;1000g2015aug_amr=0.6484;1000g2015aug_all=0.504792;esp6500siv2_all=0.4815;ExAC_ALL=0.6255;ExAC_AFR=0.1618;ExAC_AMR=0.7334;ExAC_EAS=0.6558;ExAC_FIN=0.6854;ExAC_NFE=0.6579;ExAC_OTH=0.6468;ExAC_SAS=0.6686;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,33:82:99:691,0,1411 1 157485720 rs1002967 T C 576.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1002967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.9928;1000g2015aug_all=0.967452;esp6500siv2_all=0.9658;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:48:605,48,0 1 157489307 rs3811033 G A 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.7;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.1095;1000g2015aug_all=0.100639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,116 1 157490710 rs6696309 G A 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.434;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-1.108;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.647;1000g2015aug_all=0.547724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,149 1 157491173 rs6427383 T A 1029.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=2.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.3026;1000g2015aug_amr=0.7651;1000g2015aug_all=0.665535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1058,87,0 1 157491322 rs6696922 G A 84.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e699\x3bName\x3e"277161:L1ME3G(LINE)";avsnp150=rs6696922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.7983;1000g2015aug_all=0.83766;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:112,9,0 1 157493685 rs1412330 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1412330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.8084;1000g2015aug_all=0.691094;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 157497263 rs3761961 T C 1694.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.8357;1000g2015aug_all=0.842252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1723,147,0 1 157507984 rs914724 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs914724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.8098;1000g2015aug_all=0.693291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157507985 rs914725 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368189.3,ENST00000361835.7,ENST00000368190.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs914725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.8372;1000g2015aug_all=0.853834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157508801 rs1972239 C T 388.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.04;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs1972239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.8314;1000g2015aug_all=0.809305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:417,30,0 1 157508882 rs6427384 C T 700.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=exonic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL5:NM_001195388:exon7:c.G1396A:p.V466I,FCRL5:NM_031281:exon7:c.G1396A:p.V466I;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs6427384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.8098;1000g2015aug_all=0.693291;esp6500siv2_all=0.6992;ExAC_ALL=0.8142;ExAC_AFR=0.4015;ExAC_AMR=0.8291;ExAC_EAS=0.7772;ExAC_FIN=0.8806;ExAC_NFE=0.8622;ExAC_OTH=0.8429;ExAC_SAS=0.8609;SIFT_score=0.342;SIFT_pred=T;Polyphen2_HDIV_score=0.056;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=2.74;FATHMM_pred=T;phyloP100way_vertebrate=-1.488;phyloP20way_mammalian=-3.268;SiPhy_29way_logOdds=3.012;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:729,63,0 1 157509025 rs2012199 C T 1280.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=exonic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL5:NM_001195388:exon7:c.G1253A:p.G418D,FCRL5:NM_031281:exon7:c.G1253A:p.G418D;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs2012199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.878;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.8357;1000g2015aug_all=0.841054;esp6500siv2_all=0.8244;ExAC_ALL=0.8667;ExAC_AFR=0.7588;ExAC_AMR=0.8524;ExAC_EAS=0.8716;ExAC_FIN=0.8835;ExAC_NFE=0.8708;ExAC_OTH=0.875;ExAC_SAS=0.9184;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.280;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.665;MutationAssessor_pred=N;FATHMM_score=3.47;FATHMM_pred=T;phyloP100way_vertebrate=-1.012;phyloP20way_mammalian=-0.354;SiPhy_29way_logOdds=7.407;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1309,116,0 1 157514091 rs12036228 C T 1578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.215;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.119;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=exonic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL5:NM_001195388:exon5:c.G805A:p.V269I,FCRL5:NM_031281:exon5:c.G805A:p.V269I;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs12036228;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.295;1000g2015aug_amr=0.1729;1000g2015aug_all=0.197684;esp6500siv2_all=0.2412;ExAC_ALL=0.1923;ExAC_AFR=0.2968;ExAC_AMR=0.1197;ExAC_EAS=0.0819;ExAC_FIN=0.1946;ExAC_NFE=0.2063;ExAC_OTH=0.1993;ExAC_SAS=0.1768;SIFT_score=0.689;SIFT_pred=T;Polyphen2_HDIV_score=0.032;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.053;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.675;MutationAssessor_pred=N;FATHMM_score=2.7;FATHMM_pred=T;phyloP100way_vertebrate=-2.218;phyloP20way_mammalian=-1.199;SiPhy_29way_logOdds=10.547;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,56:94:99:1607,0,1054 1 157514097 rs6679793 A G 4030.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=1.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=exonic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL5:NM_001195388:exon5:c.T799C:p.Y267H,FCRL5:NM_031281:exon5:c.T799C:p.Y267H;Gencode=Name\x3eENST00000361835.7,ENST00000368190.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs6679793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9067;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.7334;1000g2015aug_all=0.707268;esp6500siv2_all=0.6981;ExAC_ALL=0.7814;ExAC_AFR=0.4658;ExAC_AMR=0.7262;ExAC_EAS=0.9030;ExAC_FIN=0.8412;ExAC_NFE=0.8212;ExAC_OTH=0.7896;ExAC_SAS=0.7694;SIFT_score=0.597;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.35;MutationAssessor_pred=N;FATHMM_score=2.82;FATHMM_pred=T;phyloP100way_vertebrate=-2.058;phyloP20way_mammalian=-0.667;SiPhy_29way_logOdds=3.426;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:4059,301,0 1 157517127 rs7531685 C T 411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.862;DP=60;ExcessHet=3.0103;FS=3.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-0.202;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157632057;Repeat=.;avsnp150=rs7531685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.1671;1000g2015aug_all=0.182308;esp6500siv2_all=0.2149;ExAC_ALL=0.2033;ExAC_AFR=0.2506;ExAC_AMR=0.1356;ExAC_EAS=0.0943;ExAC_FIN=0.2065;ExAC_NFE=0.2218;ExAC_OTH=0.2072;ExAC_SAS=0.1994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,23:59:99:440,0,1090 1 157522016 rs7552348 G A 308.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.628;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.182;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL5;Func=intronic;Gene=NM_001195388,NM_031281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368190.7,ENST00000361835.7,ENST00000368189.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552348;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.3328;1000g2015aug_amr=0.1729;1000g2015aug_all=0.209665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:337,0,549 1 157545231 rs849827 G T 206.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=4.337;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.312;SOR=0.07;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=UTR3;Gene=NM_031282;GeneDetail=NM_031282:c.*83C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs849827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.3617;1000g2015aug_all=0.440895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:235,0,444 1 157548669 rs1885561 T A 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.123;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.308;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=intronic;Gene=NM_031282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.3617;1000g2015aug_all=0.440895;esp6500siv2_all=0.4802;ExAC_ALL=0.3678;ExAC_AFR=0.7334;ExAC_AMR=0.2849;ExAC_EAS=0.2456;ExAC_FIN=0.3341;ExAC_NFE=0.3518;ExAC_OTH=0.3570;ExAC_SAS=0.3264;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:363,0,419 1 157550066 rs10489673 T C 1003.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.109;DP=83;ExcessHet=3.0103;FS=1.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.292;SOR=0.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=intronic;Gene=NM_031282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.619;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.5159;1000g2015aug_all=0.382588;esp6500siv2_all=0.2852;ExAC_ALL=0.4194;ExAC_AFR=0.0780;ExAC_AMR=0.5856;ExAC_EAS=0.6140;ExAC_FIN=0.4681;ExAC_NFE=0.3955;ExAC_OTH=0.4174;ExAC_SAS=0.4934;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,40:83:99:1032,0,1308 1 157550357 rs2779159 C T 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.705;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=intronic;Gene=NM_031282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2779159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.789;1000g2015aug_amr=0.3588;1000g2015aug_all=0.439896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 157550417 rs2777965 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=intronic;Gene=NM_031282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.789;1000g2015aug_amr=0.3588;1000g2015aug_all=0.439896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157557701 rs2777962 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=exonic;Gene=NM_031282;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCRL4:NM_031282:exon4:c.C516T:p.D172D;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.5375;1000g2015aug_all=0.498403;esp6500siv2_all=0.4107;ExAC_ALL=0.4813;ExAC_AFR=0.3821;ExAC_AMR=0.5396;ExAC_EAS=0.6894;ExAC_FIN=0.5121;ExAC_NFE=0.4464;ExAC_OTH=0.4756;ExAC_SAS=0.5195;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 157565970 rs1885560 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.95;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=intronic;Gene=NM_031282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.8501;1000g2015aug_all=0.795727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 157567751 rs1361889 A G 3826.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.217;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL4;Func=UTR5;Gene=NM_031282;GeneDetail=NM_031282:c.-17T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271532.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1361889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9008;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.8501;1000g2015aug_all=0.796126;esp6500siv2_all=0.7370;ExAC_ALL=0.7766;ExAC_AFR=0.6878;ExAC_AMR=0.7915;ExAC_EAS=0.9032;ExAC_FIN=0.7919;ExAC_NFE=0.7566;ExAC_OTH=0.7808;ExAC_SAS=0.8299;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3855,359,0 1 157595813 rs2777984 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e27943\x3bdist\x3e50458;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e335\x3bName\x3e"277335:LTR81C(LTR)";avsnp150=rs2777984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.7378;1000g2015aug_all=0.773163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157595816 rs2777985 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e27946\x3bdist\x3e50455;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e335\x3bName\x3e"277335:LTR81C(LTR)";avsnp150=rs2777985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.7378;1000g2015aug_all=0.773163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157599744 rs2758630 T C 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.712;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e31874\x3bdist\x3e46527;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.5432;1000g2015aug_all=0.523762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:28:154,0,28 1 157599858 rs2777997 C T 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.544;DP=36;ExcessHet=3.0103;FS=1.445;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.265;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e31988\x3bdist\x3e46413;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.5461;1000g2015aug_all=0.540335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,26:36:99:603,0,207 1 157599917 rs2758629 A G 790.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.275;DP=37;ExcessHet=3.0103;FS=1.28;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.219;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e32047\x3bdist\x3e46354;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.5432;1000g2015aug_all=0.523762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,23:37:99:819,0,519 1 157599937 rs2777998 T A 664.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.831;DP=32;ExcessHet=3.0103;FS=3.254;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.77;ReadPosRankSum=0.019;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e32067\x3bdist\x3e46334;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.5418;1000g2015aug_all=0.523762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,18:32:99:693,0,534 1 157599988 rs2758628 T C 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.475;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-1.369;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e32118\x3bdist\x3e46283;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:321,0,408 1 157600009 rs2777999 G T 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.023;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=0.259;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e32139\x3bdist\x3e46262;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4092;1000g2015aug_amr=0.5432;1000g2015aug_all=0.523363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:99:99,0,349 1 157605860 rs2778016 G A 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.536;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e37990\x3bdist\x3e40411;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2778016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.5432;1000g2015aug_all=0.52476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,247 1 157606002 rs2758697 G A 563.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.417;DP=56;ExcessHet=3.0103;FS=2.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.521;SOR=1.089;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e38132\x3bdist\x3e40269;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2758697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.5072;1000g2015aug_all=0.420327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,23:55:99:592,0,763 1 157606013 rs2758696 G A 581.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.621;DP=60;ExcessHet=3.0103;FS=3.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=1.415;SOR=1.349;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e38143\x3bdist\x3e40258;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2758696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.5432;1000g2015aug_all=0.52476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,23:60:99:610,0,952 1 157606064 rs2758695 C T 1990.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.32;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e38194\x3bdist\x3e40207;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2758695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.7378;1000g2015aug_all=0.774161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2019,174,0 1 157606294 rs2248138 T A 944.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e38424\x3bdist\x3e39977;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2248138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8165;1000g2015aug_sas=0.726;1000g2015aug_eur=0.67;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.7378;1000g2015aug_all=0.774361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:973,93,0 1 157610151 rs2758675 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.703;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e42281\x3bdist\x3e36120;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=Score\x3e1728\x3bName\x3e"277359:MER4A(LTR)";avsnp150=rs2758675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.5432;1000g2015aug_all=0.523962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,181 1 157612420 rs9427302 C T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e44550\x3bdist\x3e33851;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs9427302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.031;1000g2015aug_amr=0.5043;1000g2015aug_all=0.400759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 157612470 rs2758649 G A 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.328;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.368;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e44600\x3bdist\x3e33801;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs2758649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.413;1000g2015aug_amr=0.5432;1000g2015aug_all=0.524361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:112,0,70 1 157612761 rs148139317 A G 242.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.139;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=-1.363;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e44891\x3bdist\x3e33510;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs148139317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0089;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:89:271,0,89 1 157612877 rs1963743 A G 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_031282,NM_001320333;GeneDetail=dist\x3e45007\x3bdist\x3e33394;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.90678\x3bName\x3echr1:157529970;Repeat=.;avsnp150=rs1963743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.413;1000g2015aug_amr=0.5432;1000g2015aug_all=0.524361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 157651017 rs1806798 T C 973.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.874;DP=60;ExcessHet=3.0103;FS=3.645;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=0.208;SOR=0.238;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL3;Func=intronic;Gene=NM_001320333,NM_052939;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368186.9,ENST00000368184.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1806798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.2176;1000g2015aug_all=0.195288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,32:60:99:1002,0,887 1 157666256 rs72708359 T C 258.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.525;DP=24;ExcessHet=3.0103;FS=1.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.087;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL3;Func=intronic;Gene=NM_001320333,NM_052939;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368184.7,ENST00000368186.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72708359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1974;1000g2015aug_all=0.162141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:287,0,335 1 157668390 rs7522061 T C 1246.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.381;DP=109;ExcessHet=3.0103;FS=2.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.552;SOR=0.952;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL3;Func=exonic;Gene=NM_001320333,NM_052939;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL3:NM_001320333:exon4:c.A82G:p.N28D,FCRL3:NM_052939:exon4:c.A82G:p.N28D;Gencode=Name\x3eENST00000368186.9,ENST00000368184.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.5;1000g2015aug_afr=0.6203;1000g2015aug_amr=0.4539;1000g2015aug_all=0.470647;esp6500siv2_all=0.5199;ExAC_ALL=0.4503;ExAC_AFR=0.6330;ExAC_AMR=0.4549;ExAC_EAS=0.4048;ExAC_FIN=0.4235;ExAC_NFE=0.4651;ExAC_OTH=0.4249;ExAC_SAS=0.3077;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.268;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.46;MutationAssessor_pred=N;FATHMM_score=2.73;FATHMM_pred=T;phyloP100way_vertebrate=-0.572;phyloP20way_mammalian=-2.138;SiPhy_29way_logOdds=10.548;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,51:109:99:1275,0,1536 1 157669580 rs58517866 T A 501.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.099;DP=27;ExcessHet=3.0103;FS=1.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=0.567;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL3;Func=intronic;Gene=NM_001320333,NM_052939;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368184.7,ENST00000368186.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58517866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.089;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.196;1000g2015aug_all=0.159145;esp6500siv2_all=0.1719;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,18:27:99:530,0,193 1 157670290 rs945635 C G 1056.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.354;DP=85;ExcessHet=3.0103;FS=0.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.634;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL3;Func=UTR5;Gene=NM_001320333,NM_052939;GeneDetail=NM_001320333:c.-11G>C\x3bNM_052939:c.-11G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368184.7,ENST00000368186.9;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.4539;1000g2015aug_all=0.543331;esp6500siv2_all=0.5780;ExAC_ALL=0.4540;ExAC_AFR=0.8609;ExAC_AMR=0.4544;ExAC_EAS=0.4024;ExAC_FIN=0.4136;ExAC_NFE=0.4391;ExAC_OTH=0.4124;ExAC_SAS=0.3035;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,40:85:99:1085,0,1237 1 157718283 rs6696643 A T 2315.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=2.139;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL2;Func=intronic;Gene=NM_001159488,NM_030764;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361516.7,ENST00000368181.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9207;1000g2015aug_all=0.944888;esp6500siv2_all=0.8693;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2344,207,0 1 157771426 . A T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.036;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL1;Func=intronic;Gene=NM_001159397,NM_001159398,NM_052938;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358292.7,ENST00000368176.7,ENST00000491942.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 157771880 rs4971154 C T 5043.77 PASS AC=2;AF=1;AN=2;DP=159;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=0.868;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL1;Func=exonic;Gene=NM_001159397,NM_001159398,NM_052938;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCRL1:NM_001159397:exon5:c.G711A:p.P237P,FCRL1:NM_001159398:exon5:c.G711A:p.P237P,FCRL1:NM_052938:exon5:c.G711A:p.P237P;Gencode=Name\x3eENST00000491942.1,ENST00000368176.7,ENST00000358292.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971154;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.501;1000g2015aug_eur=0.493;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.5072;1000g2015aug_all=0.389577;esp6500siv2_all=0.3861;ExAC_ALL=0.4879;ExAC_AFR=0.1260;ExAC_AMR=0.5055;ExAC_EAS=0.5445;ExAC_FIN=0.5861;ExAC_NFE=0.5177;ExAC_OTH=0.5354;ExAC_SAS=0.5111;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,159:159:99:5072,476,0 1 157802714 rs2765499 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6369;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.7107;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.5303;1000g2015aug_all=0.623602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157802748 rs2777815 C G 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.29;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.862;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.7579;1000g2015aug_all=0.76857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 157802877 rs2765500 T C 1267.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.0756;1000g2015aug_amr=0.2839;1000g2015aug_all=0.308506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1296,120,0 1 157802979 rs2261295 C T 2780.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2261295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.862;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.7622;1000g2015aug_all=0.803914;esp6500siv2_all=0.7432;ExAC_ALL=0.7568;ExAC_AFR=0.8115;ExAC_AMR=0.7559;ExAC_EAS=0.8248;ExAC_FIN=0.7567;ExAC_NFE=0.7162;ExAC_OTH=0.8040;ExAC_SAS=0.8524;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2809,258,0 1 157804648 rs2765501 G A 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.712;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.2291;1000g2015aug_all=0.255591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 157806006 rs2765503 G A 3204.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.862;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.7522;1000g2015aug_all=0.789137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:3233,273,0 1 157811175 rs2765505 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2765505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.2824;1000g2015aug_all=0.306709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 157811392 rs2260040 G A 2188.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=2.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD5L;Func=intronic;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368174.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2260040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.862;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.7522;1000g2015aug_all=0.788738;esp6500siv2_all=0.7159;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2217,182,0 1 157811639 . A T 708.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.623;DP=36;ExcessHet=3.0103;FS=5.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=-1.114;SOR=0.096;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001347698,NM_005894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,25:35:99:737,0,281 1 157847267 . C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347698,NR_135760;GeneDetail=dist\x3e35633\x3bdist\x3e48490;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3671\x3bName\x3e"277746:L1PA6(LINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 157894797 rs3923515 T C 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.687;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_135760;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3923515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.8994;1000g2015aug_amr=0.8545;1000g2015aug_all=0.821885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:358,0,408 1 157952906 rs36077494 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135760,NM_018240;GeneDetail=dist\x3e34045\x3bdist\x3e10157;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36077494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0968;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157952910 rs34142269 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135760,NM_018240;GeneDetail=dist\x3e34049\x3bdist\x3e10153;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34142269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0968;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 157955804 rs4246539 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135760,NM_018240;GeneDetail=dist\x3e36943\x3bdist\x3e7259;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4246539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.3084;1000g2015aug_all=0.163139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 157968597 rs1217056 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360089.8,ENST00000359209.10,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1217056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9971;1000g2015aug_all=0.993011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 157972528 rs3856267 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.6167;1000g2015aug_all=0.586262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 157977572 rs11580742 A G 61.96 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0750799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,4:5:5:89,5,0 1 157977612 rs2777818 C G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2777818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9909;1000g2015aug_amr=1;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 158025925 rs1925031 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360089.8,ENST00000359209.10,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"278109:(CTCCT)n(Simple_repeat)";avsnp150=rs1925031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9798;1000g2015aug_all=0.944888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 158028109 rs4971189 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4971189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 158045764 rs7365258 G A 918.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360089.8,ENST00000359209.10,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7365258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2113;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.1282;1000g2015aug_all=0.202676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:947,84,0 1 158056299 rs7367384 C G 1257.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.552;DP=99;ExcessHet=3.0103;FS=4.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.913;SOR=0.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360089.8,ENST00000359209.10,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7367384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.5591;1000g2015aug_all=0.42492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,46:99:99:1286,0,1464 1 158056651 rs7364493 A G 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=1.196;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359209.10,ENST00000368173.7,ENST00000360089.8,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7364493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.6671;1000g2015aug_all=0.51238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:519,0,268 1 158057420 rs7514301 A T 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.795;DP=38;ExcessHet=3.0103;FS=8.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.409;SOR=2.441;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.6095;1000g2015aug_all=0.480631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,18:38:99:604,0,524 1 158057691 rs3820676 A C 908.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.241;DP=77;ExcessHet=3.0103;FS=9.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.597;SOR=1.299;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368172.1,ENST00000360089.8,ENST00000368173.7,ENST00000359209.10;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.6793;1000g2015aug_amr=0.3314;1000g2015aug_all=0.395168;esp6500siv2_all=0.4287;ExAC_ALL=0.3479;ExAC_AFR=0.6262;ExAC_AMR=0.2568;ExAC_EAS=0.2731;ExAC_FIN=0.2986;ExAC_NFE=0.3461;ExAC_OTH=0.3442;ExAC_SAS=0.3020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,31:77:99:937,0,1277 1 158058109 rs6427419 C A 1495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.296;DP=107;ExcessHet=3.0103;FS=2.546;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.881;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368172.1,ENST00000368173.7,ENST00000359209.10,ENST00000360089.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.5836;1000g2015aug_all=0.452476;esp6500siv2_all=0.3839;ExAC_ALL=0.5241;ExAC_AFR=0.1037;ExAC_AMR=0.6857;ExAC_EAS=0.6847;ExAC_FIN=0.5809;ExAC_NFE=0.5188;ExAC_OTH=0.5414;ExAC_SAS=0.5928;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,57:107:99:1524,0,1275 1 158061043 rs2274165 G A 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.564;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360089.8,ENST00000368173.7,ENST00000359209.10,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.1195;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0704872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:170,0,261 1 158061626 rs912572 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=intronic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359209.10,ENST00000368173.7,ENST00000360089.8,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.7003;1000g2015aug_all=0.653954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 158064439 rs41273465 C A 924.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=72;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.141;SOR=0.83;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=exonic;Gene=NM_001286349,NM_018240;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIRREL:NM_001286349:exon13:c.C1503A:p.P501P,KIRREL:NM_018240:exon15:c.C1803A:p.P601P;Gencode=Name\x3eENST00000368173.7,ENST00000359209.10,ENST00000360089.8,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41273465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0710863;esp6500siv2_all=0.0808;ExAC_ALL=0.0703;ExAC_AFR=0.1108;ExAC_AMR=0.0264;ExAC_EAS=0.0093;ExAC_FIN=0.0450;ExAC_NFE=0.0736;ExAC_OTH=0.0533;ExAC_SAS=0.1203;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,38:72:99:953,0,936 1 158066669 rs41273471 G A 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.117;DP=44;ExcessHet=3.0103;FS=2.716;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.391;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=UTR3;Gene=NM_001286349,NM_018240;GeneDetail=NM_001286349:c.*1759G>A\x3bNM_018240:c.*1759G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368172.1,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41273471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0708866;esp6500siv2_all=.;ExAC_ALL=0.0884;ExAC_AFR=0.1168;ExAC_AMR=0.0489;ExAC_EAS=0.0258;ExAC_FIN=0.0952;ExAC_NFE=0.0575;ExAC_OTH=0.0563;ExAC_SAS=0.1039;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,25:44:99:809,0,627 1 158066834 rs6427420 A G 653.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.116;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.701;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=UTR3;Gene=NM_001286349,NM_018240;GeneDetail=NM_001286349:c.*1924A>G\x3bNM_018240:c.*1924A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368172.1,ENST00000368173.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.6009;1000g2015aug_all=0.502995;esp6500siv2_all=.;ExAC_ALL=0.5295;ExAC_AFR=0.2805;ExAC_AMR=0.5354;ExAC_EAS=0.6214;ExAC_FIN=0.6049;ExAC_NFE=0.4608;ExAC_OTH=0.5213;ExAC_SAS=0.5696;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,27:69:99:682,0,1072 1 158067047 rs874844 A C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.693;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=1.063;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIRREL;Func=UTR3;Gene=NM_001286349,NM_018240;GeneDetail=NM_001286349:c.*2137A>C\x3bNM_018240:c.*2137A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368173.7,ENST00000368172.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs874844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.5865;1000g2015aug_all=0.454073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:92:92,0,243 1 158084591 rs6427421 A G 54.22 PASS AC=2;AF=1;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018240,NR_033946;GeneDetail=dist\x3e14539\x3bdist\x3e17243;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,2:3:4:81,4,0 1 158133383 rs66845334 C T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033946,NM_001319145;GeneDetail=dist\x3e22953\x3bdist\x3e16354;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e45\x3bName\x3e"278305:GA-rich(Low_complexity)";avsnp150=rs66845334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2939;1000g2015aug_all=0.262979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 158146946 rs3021477 T C 337.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.043;DP=25;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.717;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033946,NM_001319145;GeneDetail=dist\x3e36516\x3bdist\x3e2791;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3021477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8482;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.7844;1000g2015aug_amr=0.7579;1000g2015aug_all=0.727636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:366,0,289 1 158153996 rs426336 T C 498.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD1D;Func=UTR3;Gene=NM_001319145,NM_001766;GeneDetail=NM_001319145:c.*56T>C\x3bNM_001766:c.*56T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368171.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs426336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9758;1000g2015aug_amr=1;1000g2015aug_all=0.99361;esp6500siv2_all=0.9947;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:527,51,0 1 158165601 rs1633128 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9385\x3bdist\x3e52518;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1633128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3213;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 158165661 rs382436 T C 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9445\x3bdist\x3e52458;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs382436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.593;1000g2015aug_amr=0.8012;1000g2015aug_all=0.824481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 158165722 rs1633129 G A 736.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.99;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9506\x3bdist\x3e52397;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1633129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3213;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:765,51,0 1 158165742 rs1633130 A T 844.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9526\x3bdist\x3e52377;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1633130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3213;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:873,60,0 1 158165938 rs1633131 A C 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9722\x3bdist\x3e52181;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1633131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3213;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 158165984 rs1633132 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e9768\x3bdist\x3e52135;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"278368:(CCTT)n(Simple_repeat)";avsnp150=rs1633132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.3213;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 158191230 rs369028 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e35014\x3bdist\x3e26889;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24850\x3bName\x3e"278397:L1PA4(LINE)";avsnp150=rs369028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9296;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.8069;1000g2015aug_all=0.834864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 158191267 rs393694 G C 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e35051\x3bdist\x3e26852;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24850\x3bName\x3e"278397:L1PA4(LINE)";avsnp150=rs393694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.6873;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 158191290 rs600334 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001766,NM_001320652;GeneDetail=dist\x3e35074\x3bdist\x3e26829;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24850\x3bName\x3e"278397:L1PA4(LINE)";avsnp150=rs600334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.6873;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 158297864 rs11583390 C A 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.523;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.321;SOR=0.249;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD1B;Func=UTR3;Gene=NM_001764;GeneDetail=NM_001764:c.*162G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368168.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11583390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:571,0,518 1 158322961 rs858565 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001042583,NM_001042584,NM_001042585,NM_001042586,NM_001042587,NM_001185107,NM_001185108,NM_001185110,NM_001185112,NM_001185113,NM_001185114,NM_001185115,NM_030893;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs858565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9899;1000g2015aug_all=0.993011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 158389630 rs57525598 G C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001004476;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2064\x3bName\x3e"278663:AluSx1(SINE)";avsnp150=rs57525598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.2061;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 158390252 rs12239443 T G 1818.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.644;DP=139;ExcessHet=3.0103;FS=10.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.268;SOR=0.727;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10K2;Func=exonic;Gene=NM_001004476;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR10K2:NM_001004476:exon1:c.A405C:p.L135L;Gencode=Name\x3eENST00000314902.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12239443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.2709;1000g2015aug_all=0.290136;esp6500siv2_all=0.3808;ExAC_ALL=0.3825;ExAC_AFR=0.2670;ExAC_AMR=0.2354;ExAC_EAS=0.1547;ExAC_FIN=0.5291;ExAC_NFE=0.4541;ExAC_OTH=0.3940;ExAC_SAS=0.3280;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,68:139:99:1847,0,1859 1 158390501 rs34616883 G A 1031.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.295;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.031;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10K2;Func=exonic;Gene=NM_001004476;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR10K2:NM_001004476:exon1:c.C156T:p.D52D;Gencode=Name\x3eENST00000314902.2;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34616883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.2695;1000g2015aug_all=0.280551;esp6500siv2_all=0.3719;ExAC_ALL=0.3799;ExAC_AFR=0.2411;ExAC_AMR=0.2341;ExAC_EAS=0.1541;ExAC_FIN=0.5287;ExAC_NFE=0.4539;ExAC_OTH=0.3932;ExAC_SAS=0.3276;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,35:77:99:1060,0,1216 1 158390834 rs10489830 C A 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.81;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001004476;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.2695;1000g2015aug_all=0.280751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:99:297,0,149 1 158424637 rs1844787 A C 161.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004476,NM_001004473;GeneDetail=dist\x3e33981\x3bdist\x3e10715;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1844787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.9195;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.7954;1000g2015aug_all=0.896166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:190,21,0 1 158435250 rs1002599 C T 284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.918;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.73;ReadPosRankSum=-0.645;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001004473;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1002599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.503;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.389;1000g2015aug_all=0.397165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,10:12:47:313,0,47 1 158435278 rs1573519 G A 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.91;DP=18;ExcessHet=3.0103;FS=2.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=1.01;SOR=0.177;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001004473;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.4553;1000g2015aug_all=0.459465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,14:18:99:394,0,113 1 158436299 rs4657080 T C 128.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.144;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.44;ReadPosRankSum=0.495;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001004473;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e346\x3bName\x3e"278723:MIRb(SINE)";avsnp150=rs4657080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.4914;1000g2015aug_all=0.572284;esp6500siv2_all=0.6182;ExAC_ALL=0.5951;ExAC_AFR=0.6668;ExAC_AMR=0.4752;ExAC_EAS=0.5149;ExAC_FIN=0.7089;ExAC_NFE=0.6227;ExAC_OTH=0.6220;ExAC_SAS=0.5178;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,6:20:99:157,0,359 1 158444920 rs7549123 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004473,NM_001004472;GeneDetail=dist\x3e8627\x3bdist\x3e4748;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419738.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e557\x3bName\x3e"278739:MIR(SINE)";avsnp150=rs7549123;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.4424;1000g2015aug_all=0.497404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 158444925 rs7551497 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004473,NM_001004472;GeneDetail=dist\x3e8632\x3bdist\x3e4743;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419738.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e557\x3bName\x3e"278739:MIR(SINE)";avsnp150=rs7551497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.5726;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.464;1000g2015aug_all=0.534145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 158450238 rs3820678 G A 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.413;DP=49;ExcessHet=3.0103;FS=1.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.347;SOR=1.041;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10R2;Func=exonic;Gene=NM_001004472;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10R2:NM_001004472:exon1:c.G571A:p.A191T;Gencode=Name\x3eENST00000368152.1,ENST00000419738.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.147;1000g2015aug_all=0.182907;esp6500siv2_all=0.1823;ExAC_ALL=0.1963;ExAC_AFR=0.1449;ExAC_AMR=0.1260;ExAC_EAS=0.1791;ExAC_FIN=0.2419;ExAC_NFE=0.2098;ExAC_OTH=0.1943;ExAC_SAS=0.2144;SIFT_score=0.161;SIFT_pred=T;Polyphen2_HDIV_score=0.386;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.15;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;phyloP100way_vertebrate=-2.526;phyloP20way_mammalian=-0.016;SiPhy_29way_logOdds=5.88;gerp++gt2=.;CADD=2.333;CADD_Phred=18.38;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,17:49:99:483,0,847 1 158450314 rs6679056 A G 450.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.18;DP=43;ExcessHet=3.0103;FS=2.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.733;SOR=1.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10R2;Func=exonic;Gene=NM_001004472;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10R2:NM_001004472:exon1:c.A647G:p.E216G;Gencode=Name\x3eENST00000368152.1,ENST00000419738.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.4424;1000g2015aug_all=0.496406;esp6500siv2_all=0.5156;ExAC_ALL=0.5226;ExAC_AFR=0.4831;ExAC_AMR=0.4240;ExAC_EAS=0.5540;ExAC_FIN=0.6466;ExAC_NFE=0.5529;ExAC_OTH=0.5650;ExAC_SAS=0.4258;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.041;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.06;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.125;MutationAssessor_pred=M;FATHMM_score=8.41;FATHMM_pred=T;phyloP100way_vertebrate=1.770;phyloP20way_mammalian=0.982;SiPhy_29way_logOdds=8.317;gerp++gt2=4.37;CADD=3.133;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,17:43:99:479,0,650 1 158450382 rs1418843 C T 602.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.273;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.506;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10R2;Func=exonic;Gene=NM_001004472;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10R2:NM_001004472:exon1:c.C715T:p.L239F;Gencode=Name\x3eENST00000368152.1,ENST00000419738.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.3833;1000g2015aug_all=0.434704;esp6500siv2_all=0.4187;ExAC_ALL=0.4406;ExAC_AFR=0.3893;ExAC_AMR=0.3778;ExAC_EAS=0.5529;ExAC_FIN=0.5313;ExAC_NFE=0.4486;ExAC_OTH=0.4780;ExAC_SAS=0.3878;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.336;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.195;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.24;MutationAssessor_pred=N;FATHMM_score=8.66;FATHMM_pred=T;phyloP100way_vertebrate=-8.749;phyloP20way_mammalian=-0.626;SiPhy_29way_logOdds=1.324;gerp++gt2=.;CADD=2.022;CADD_Phred=16.35;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,23:42:99:631,0,613 1 158493890 rs7525362 G C 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.066;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=-0.369;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e43215\x3bdist\x3e23028;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.911714\x3bName\x3echr11:27888162;Repeat=.;avsnp150=rs7525362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4683;1000g2015aug_all=0.566693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,5:17:99:109,0,280 1 158494110 rs7515245 A G 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.189;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=1.006;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e43435\x3bdist\x3e22808;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.911714\x3bName\x3echr11:27888162;Repeat=.;avsnp150=rs7515245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4683;1000g2015aug_all=0.566693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:58:144,0,58 1 158494193 rs10797022 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e43518\x3bdist\x3e22725;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.911714\x3bName\x3echr11:27888162;Repeat=.;avsnp150=rs10797022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.68;1000g2015aug_amr=0.4683;1000g2015aug_all=0.565695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 158495001 rs6663277 A T 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.258;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.061;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e44326\x3bdist\x3e21917;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.911714\x3bName\x3echr11:27888162;Repeat=.;avsnp150=rs6663277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4683;1000g2015aug_all=0.566693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:167,0,182 1 158495431 rs6674656 G A 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.437;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e44756\x3bdist\x3e21487;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=Score\x3e0.911714\x3bName\x3echr11:27888162;Repeat=.;avsnp150=rs6674656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.4683;1000g2015aug_all=0.566693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,148 1 158497139 rs6672789 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e46464\x3bdist\x3e19779;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11755\x3bName\x3e"278818:L1PA15-16(LINE)";avsnp150=rs6672789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.4697;1000g2015aug_all=0.567292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 158507157 rs2051665 A T 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.085;DP=31;ExcessHet=3.0103;FS=9.728;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.283;SOR=2.741;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e56482\x3bdist\x3e9761;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2051665;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.4697;1000g2015aug_all=0.567292;esp6500siv2_all=.;ExAC_ALL=0.5527;ExAC_AFR=0.6516;ExAC_AMR=0.4380;ExAC_EAS=0.5581;ExAC_FIN=0.6505;ExAC_NFE=0.5690;ExAC_OTH=0.5990;ExAC_SAS=0.4757;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,9:31:99:350,0,1076 1 158507160 rs2051666 T G 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.591;DP=32;ExcessHet=3.0103;FS=9.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.265;SOR=2.939;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e56485\x3bdist\x3e9758;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2051666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.4697;1000g2015aug_all=0.567292;esp6500siv2_all=0.5720;ExAC_ALL=0.5530;ExAC_AFR=0.6542;ExAC_AMR=0.4384;ExAC_EAS=0.5584;ExAC_FIN=0.6505;ExAC_NFE=0.5691;ExAC_OTH=0.5990;ExAC_SAS=0.4758;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,10:32:99:350,0,1076 1 158507184 rs2051068 A G 312.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.503;DP=44;ExcessHet=3.0103;FS=7.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=0.277;SOR=2.08;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e56509\x3bdist\x3e9734;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2051068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.4006;1000g2015aug_all=0.484225;esp6500siv2_all=0.4597;ExAC_ALL=0.4694;ExAC_AFR=0.5029;ExAC_AMR=0.3936;ExAC_EAS=0.5606;ExAC_FIN=0.5459;ExAC_NFE=0.4660;ExAC_OTH=0.5155;ExAC_SAS=0.4386;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,14:44:99:341,0,762 1 158507398 rs2051067 G T 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.5;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=1.274;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004472,NM_001005189;GeneDetail=dist\x3e56723\x3bdist\x3e9520;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2051067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.4669;1000g2015aug_all=0.566294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:407,0,240 1 158532405 rs7526514 T G 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.434;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.547;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001160325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.5749;1000g2015aug_amr=0.4135;1000g2015aug_all=0.502796;esp6500siv2_all=0.4901;ExAC_ALL=0.4751;ExAC_AFR=0.5694;ExAC_AMR=0.4331;ExAC_EAS=0.5429;ExAC_FIN=0.5492;ExAC_NFE=0.4711;ExAC_OTH=0.4806;ExAC_SAS=0.4297;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,139 1 158533140 rs12080815 A G 1431.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.85;DP=120;ExcessHet=3.0103;FS=1.514;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.5;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6P1;Func=exonic;Gene=NM_001160325;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR6P1:NM_001160325:exon1:c.T255C:p.F85F;Gencode=Name\x3eENST00000334632.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12080815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.5794;1000g2015aug_amr=0.4135;1000g2015aug_all=0.503994;esp6500siv2_all=0.4904;ExAC_ALL=0.4714;ExAC_AFR=0.5695;ExAC_AMR=0.4282;ExAC_EAS=0.5434;ExAC_FIN=0.5602;ExAC_NFE=0.4657;ExAC_OTH=0.4792;ExAC_SAS=0.4294;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,55:120:99:1460,0,1877 1 158533224 rs12081915 A G 874.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.256;DP=60;ExcessHet=3.0103;FS=5.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.177;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6P1;Func=exonic;Gene=NM_001160325;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR6P1:NM_001160325:exon1:c.T171C:p.R57R;Gencode=Name\x3eENST00000334632.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12081915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.4193;1000g2015aug_all=0.526558;esp6500siv2_all=0.5140;ExAC_ALL=0.4795;ExAC_AFR=0.6504;ExAC_AMR=0.4317;ExAC_EAS=0.5437;ExAC_FIN=0.5542;ExAC_NFE=0.4665;ExAC_OTH=0.4876;ExAC_SAS=0.4295;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,30:60:99:903,0,1015 1 158548672 rs16840359 T C 749.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.592;DP=45;ExcessHet=3.0103;FS=8.137;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=0.966;SOR=0.117;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001004477;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16840359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0099;1000g2015aug_afr=.;1000g2015aug_amr=0.013;1000g2015aug_all=0.00379393;esp6500siv2_all=0.0055;ExAC_ALL=0.0046;ExAC_AFR=0.0015;ExAC_AMR=0.0037;ExAC_EAS=0.0007;ExAC_FIN=0.0074;ExAC_NFE=0.0060;ExAC_OTH=0.0013;ExAC_SAS=0.0008;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,26:45:99:778,0,561 1 158549264 rs863360 G A 969.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.141;DP=57;ExcessHet=3.0103;FS=2.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=0.862;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10X1;Func=exonic;Gene=NM_001004477;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR10X1:NM_001004477:exon1:c.C426T:p.I142I;Gencode=Name\x3eENST00000368150.1,ENST00000623167.1,ENST00000625122.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.4135;1000g2015aug_all=0.502396;esp6500siv2_all=0.4863;ExAC_ALL=0.4772;ExAC_AFR=0.5749;ExAC_AMR=0.4087;ExAC_EAS=0.5720;ExAC_FIN=0.5459;ExAC_NFE=0.4646;ExAC_OTH=0.5110;ExAC_SAS=0.4353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,34:57:99:998,0,621 1 158549420 rs863361 C T 1011.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.65;DP=72;ExcessHet=3.0103;FS=0.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.317;SOR=0.562;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10X1;Func=exonic;Gene=NM_001004477;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR10X1:NM_001004477:exon1:c.G270A:p.T90T;Gencode=Name\x3eENST00000368150.1,ENST00000623167.1,ENST00000625122.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.4141;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.4164;1000g2015aug_all=0.518371;esp6500siv2_all=0.5040;ExAC_ALL=0.4816;ExAC_AFR=0.6254;ExAC_AMR=0.4095;ExAC_EAS=0.5714;ExAC_FIN=0.5456;ExAC_NFE=0.4646;ExAC_OTH=0.5143;ExAC_SAS=0.4355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,39:72:99:1040,0,892 1 158549492 rs863362 C T 989.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=66;ExcessHet=3.0103;FS=0.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.25;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10X1;Func=exonic;Gene=NM_001004477;GeneDetail=.;ExonicFunc=stopgain;AAChange=OR10X1:NM_001004477:exon1:c.G198A:p.W66X;Gencode=Name\x3eENST00000625122.1,ENST00000623167.1,ENST00000368150.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.4135;1000g2015aug_all=0.502396;esp6500siv2_all=0.4863;ExAC_ALL=0.4769;ExAC_AFR=0.5747;ExAC_AMR=0.4076;ExAC_EAS=0.5711;ExAC_FIN=0.5461;ExAC_NFE=0.4644;ExAC_OTH=0.5132;ExAC_SAS=0.4355;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.008;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.337;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=13.070;gerp++gt2=4.18;CADD=9.071;CADD_Phred=35;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,34:66:99:1018,0,885 1 158549511 rs863363 A G 971.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.782;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.807;SOR=0.772;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10X1;Func=exonic;Gene=NM_001004477;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10X1:NM_001004477:exon1:c.T179C:p.I60T;Gencode=Name\x3eENST00000368150.1,ENST00000623167.1,ENST00000625122.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.4164;1000g2015aug_all=0.518171;esp6500siv2_all=0.5040;ExAC_ALL=0.4817;ExAC_AFR=0.6257;ExAC_AMR=0.4092;ExAC_EAS=0.5722;ExAC_FIN=0.5463;ExAC_NFE=0.4647;ExAC_OTH=0.5143;ExAC_SAS=0.4355;SIFT_score=0.694;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.978;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.025;MutationAssessor_pred=N;FATHMM_score=5.28;FATHMM_pred=T;phyloP100way_vertebrate=-1.264;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=4.245;gerp++gt2=3.2;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,37:68:99:1000,0,920 1 158576973 rs41273513 A G 967.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.526;DP=68;ExcessHet=3.0103;FS=0.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.503;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10Z1;Func=exonic;Gene=NM_001004478;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10Z1:NM_001004478:exon1:c.A745G:p.I249V;Gencode=Name\x3eENST00000361284.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41273513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0091853;esp6500siv2_all=0.0140;ExAC_ALL=0.0164;ExAC_AFR=0.0028;ExAC_AMR=0.0114;ExAC_EAS=0;ExAC_FIN=0.0408;ExAC_NFE=0.0212;ExAC_OTH=0.0132;ExAC_SAS=0.0079;SIFT_score=0.289;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_pred=B;LRT_score=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=-0.095;MutationAssessor_pred=N;FATHMM_score=1.46;FATHMM_pred=T;phyloP100way_vertebrate=-0.726;phyloP20way_mammalian=-0.204;SiPhy_29way_logOdds=4.843;gerp++gt2=2.77;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,36:67:99:996,0,788 1 158580887 rs3768535 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=UTR3;Gene=NM_003126;GeneDetail=NM_003126:c.*167A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768535;cosmic70=.;CLNALLELEID=277603;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN239472;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.2061;1000g2015aug_all=0.227436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 158582646 rs2251969 T C 1316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.066;DP=91;ExcessHet=3.0103;FS=1.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.048;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon51:c.A7095G:p.A2365A;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251969;cosmic70=.;CLNALLELEID=249424;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.5202;1000g2015aug_all=0.504792;esp6500siv2_all=0.5095;ExAC_ALL=0.5385;ExAC_AFR=0.4234;ExAC_AMR=0.5345;ExAC_EAS=0.6071;ExAC_FIN=0.6489;ExAC_NFE=0.5635;ExAC_OTH=0.5744;ExAC_SAS=0.4265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,48:91:99:1345,0,1087 1 158584091 rs952094 A G 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.242;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-1.242;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPTA1:NM_003126:exon49:c.T6794C:p.I2265T;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs952094;cosmic70=.;CLNALLELEID=249425;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.5202;1000g2015aug_all=0.50619;esp6500siv2_all=0.5068;ExAC_ALL=0.5374;ExAC_AFR=0.4245;ExAC_AMR=0.5332;ExAC_EAS=0.6049;ExAC_FIN=0.6476;ExAC_NFE=0.5621;ExAC_OTH=0.5742;ExAC_SAS=0.4262;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.955;MutationAssessor_pred=N;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=2.960;phyloP20way_mammalian=-0.230;SiPhy_29way_logOdds=7.241;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,278 1 158587390 rs857716 C T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.127;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.564;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857716;cosmic70=.;CLNALLELEID=249427;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.5187;1000g2015aug_all=0.491014;esp6500siv2_all=0.4852;ExAC_ALL=0.5331;ExAC_AFR=0.3818;ExAC_AMR=0.5289;ExAC_EAS=0.6030;ExAC_FIN=0.6465;ExAC_NFE=0.5620;ExAC_OTH=0.5764;ExAC_SAS=0.4258;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:249,0,279 1 158587784 rs857717 T G 461.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=0.9993;ExAC_ALL=0.9999;ExAC_AFR=0.9986;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:490,45,0 1 158587858 rs28525570 G A 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.85;DP=22;ExcessHet=3.0103;FS=4.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.137;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28525570;cosmic70=.;CLNALLELEID=249428;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.2133;1000g2015aug_all=0.227835;esp6500siv2_all=0.2491;ExAC_ALL=0.2564;ExAC_AFR=0.1998;ExAC_AMR=0.1610;ExAC_EAS=0.1912;ExAC_FIN=0.3018;ExAC_NFE=0.2874;ExAC_OTH=0.2617;ExAC_SAS=0.2473;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:188,0,348 1 158588916 rs7553252 C G 358.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.748;DP=18;ExcessHet=3.0103;FS=5.563;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=0.936;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7553252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2924;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.2507;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,13:18:99:387,0,154 1 158589366 rs114187816 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114187816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 158592935 rs3753068 G A 1053.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.545;DP=127;ExcessHet=3.0103;FS=4.588;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.995;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon43:c.C5958T:p.P1986P;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753068;cosmic70=.;CLNALLELEID=249433;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2924;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.4387;1000g2015aug_amr=0.2478;1000g2015aug_all=0.310503;esp6500siv2_all=0.3259;ExAC_ALL=0.2956;ExAC_AFR=0.4278;ExAC_AMR=0.1880;ExAC_EAS=0.1909;ExAC_FIN=0.3084;ExAC_NFE=0.3063;ExAC_OTH=0.2940;ExAC_SAS=0.2993;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,45:125:99:1082,0,2071 1 158595824 rs56954229 T C 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.4;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.169;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1184\x3bName\x3e"278999:L1MEg(LINE)";avsnp150=rs56954229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2161;1000g2015aug_all=0.246006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,20:39:99:571,0,538 1 158595842 rs11265038 C A 660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.806;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1184\x3bName\x3e"278999:L1MEg(LINE)";avsnp150=rs11265038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2161;1000g2015aug_all=0.246006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,23:45:99:689,0,677 1 158596524 rs12088990 A G 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.304;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.206;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12088990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2044;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2133;1000g2015aug_all=0.225639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:253,0,177 1 158597309 rs12044097 A G 464.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.646;DP=27;ExcessHet=3.0103;FS=4.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.804;SOR=0.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12044097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.2795;1000g2015aug_all=0.186102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,17:27:99:493,0,304 1 158597507 rs3737515 G C 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.38;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.41;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPTA1:NM_003126:exon40:c.C5572G:p.L1858V;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737515;cosmic70=.;CLNALLELEID=249434;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.2133;1000g2015aug_all=0.227835;esp6500siv2_all=0.2495;ExAC_ALL=0.2567;ExAC_AFR=0.2000;ExAC_AMR=0.1610;ExAC_EAS=0.1910;ExAC_FIN=0.3021;ExAC_NFE=0.2878;ExAC_OTH=0.2617;ExAC_SAS=0.2475;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=0.601;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.395;Polyphen2_HVAR_pred=B;LRT_score=0.296;LRT_pred=N;MutationTaster_score=0.032;MutationTaster_pred=P;MutationAssessor_score=2.66;MutationAssessor_pred=M;FATHMM_score=0.82;FATHMM_pred=T;phyloP100way_vertebrate=2.724;phyloP20way_mammalian=0.142;SiPhy_29way_logOdds=10.249;gerp++gt2=2.68;CADD=4.359;CADD_Phred=24.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:578,0,309 1 158606449 rs3738791 G T 749.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.449;DP=51;ExcessHet=3.0103;FS=1.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.227;SOR=0.899;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon37:c.C5292A:p.A1764A;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738791;cosmic70=.;CLNALLELEID=249437;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.2522;1000g2015aug_all=0.320487;esp6500siv2_all=0.3378;ExAC_ALL=0.2980;ExAC_AFR=0.4588;ExAC_AMR=0.1884;ExAC_EAS=0.1909;ExAC_FIN=0.3085;ExAC_NFE=0.3060;ExAC_OTH=0.2944;ExAC_SAS=0.2986;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,28:51:99:778,0,637 1 158607788 rs2518492 T G 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e218\x3bName\x3e"279013:Tigger19a(DNA)";avsnp150=rs2518492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=0.9992;ExAC_ALL=0.9998;ExAC_AFR=0.9980;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 158608178 rs10908687 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.2205;1000g2015aug_all=0.245208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 158609300 rs17635857 C G 721.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.365;DP=59;ExcessHet=3.0103;FS=2.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.357;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17635857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2205;1000g2015aug_all=0.245407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,28:59:99:750,0,947 1 158612236 rs863931 A G 1148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.719;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=0.27;SOR=0.65;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPTA1:NM_003126:exon33:c.T4702C:p.C1568R;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863931;cosmic70=.;CLNALLELEID=249440;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6359;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.5605;1000g2015aug_all=0.59405;esp6500siv2_all=0.5996;ExAC_ALL=0.5789;ExAC_AFR=0.6652;ExAC_AMR=0.5565;ExAC_EAS=0.6143;ExAC_FIN=0.6550;ExAC_NFE=0.5826;ExAC_OTH=0.6125;ExAC_SAS=0.4776;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-2.8;MutationAssessor_pred=N;FATHMM_score=0.87;FATHMM_pred=T;phyloP100way_vertebrate=0.976;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=10.075;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,47:69:99:1177,0,473 1 158614198 rs6702040 C T 891.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.686;DP=73;ExcessHet=3.0103;FS=4.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.877;SOR=0.313;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702040;cosmic70=.;CLNALLELEID=249446;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.2536;1000g2015aug_all=0.319688;esp6500siv2_all=0.3365;ExAC_ALL=0.2977;ExAC_AFR=0.4590;ExAC_AMR=0.1884;ExAC_EAS=0.1875;ExAC_FIN=0.3092;ExAC_NFE=0.3054;ExAC_OTH=0.2962;ExAC_SAS=0.2998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,37:73:99:920,0,942 1 158618223 rs857677 C T 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.875;DP=19;ExcessHet=3.0103;FS=5.161;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.339;SOR=2.262;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.5403;1000g2015aug_all=0.544129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:359,0,133 1 158618480 rs11265044 A T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.129;DP=18;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.622;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.229;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.2061;1000g2015aug_all=0.246605;esp6500siv2_all=0.2594;ExAC_ALL=0.2471;ExAC_AFR=0.2776;ExAC_AMR=0.1671;ExAC_EAS=0.1776;ExAC_FIN=0.2380;ExAC_NFE=0.2694;ExAC_OTH=0.2427;ExAC_SAS=0.2351;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:249,0,281 1 158619728 rs2482965 A C 1722.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=0.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPTA1:NM_003126:exon25:c.T3487G:p.S1163A;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2482965;cosmic70=.;CLNALLELEID=249451;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=1;1000g2015aug_all=0.994609;esp6500siv2_all=0.9940;ExAC_ALL=0.9983;ExAC_AFR=0.9790;ExAC_AMR=0.9994;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=0.488;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.869;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_pred=T;phyloP100way_vertebrate=0.317;phyloP20way_mammalian=-0.667;SiPhy_29way_logOdds=6.955;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1751,162,0 1 158624779 rs2276401 T C 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.301;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=1.283;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2276401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0937;1000g2015aug_all=0.119209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:121,0,421 1 158639601 rs2298801 A G 1078.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.883;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.693;SOR=0.695;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.5;1000g2015aug_all=0.377196;esp6500siv2_all=0.4362;ExAC_ALL=0.4414;ExAC_AFR=0.2949;ExAC_AMR=0.4667;ExAC_EAS=0.3665;ExAC_FIN=0.4367;ExAC_NFE=0.4843;ExAC_OTH=0.4430;ExAC_SAS=0.3777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,41:80:99:1107,0,922 1 158640839 rs966652 G T 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs966652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9914;1000g2015aug_all=0.957668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 158644105 rs703116 T A 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs703116;cosmic70=.;CLNALLELEID=249462;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.09;1000g2015aug_amr=0.4323;1000g2015aug_all=0.354233;esp6500siv2_all=0.3271;ExAC_ALL=0.3999;ExAC_AFR=0.1329;ExAC_AMR=0.4316;ExAC_EAS=0.4533;ExAC_FIN=0.3524;ExAC_NFE=0.3960;ExAC_OTH=0.3820;ExAC_SAS=0.5442;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 158646300 rs90078 C T 95.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e452\x3bName\x3e"279063:MIRb(SINE)";avsnp150=rs90078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.9841;1000g2015aug_all=0.925719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:123,9,0 1 158647312 rs325997 A G 353.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.51;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e311\x3bName\x3e"279066:L1ME3D(LINE)";avsnp150=rs325997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9914;1000g2015aug_all=0.957468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:382,30,0 1 158647495 rs325996 A T 1632.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon7:c.T942A:p.A314A;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs325996;cosmic70=.;CLNALLELEID=249465;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9914;1000g2015aug_all=0.956869;esp6500siv2_all=0.9580;ExAC_ALL=0.9850;ExAC_AFR=0.8605;ExAC_AMR=0.9925;ExAC_EAS=1;ExAC_FIN=0.9867;ExAC_NFE=0.9962;ExAC_OTH=0.9922;ExAC_SAS=0.9994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1661,156,0 1 158647631 rs325995 T A 924.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs325995;cosmic70=.;CLNALLELEID=249468;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9914;1000g2015aug_all=0.956869;esp6500siv2_all=0.9581;ExAC_ALL=0.9849;ExAC_AFR=0.8601;ExAC_AMR=0.9924;ExAC_EAS=1;ExAC_FIN=0.9865;ExAC_NFE=0.9962;ExAC_OTH=0.9922;ExAC_SAS=0.9994;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:953,90,0 1 158648008 rs325994 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs325994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.995;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.9769;1000g2015aug_all=0.919129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 158648205 rs36058424 T C 668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.08;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.407;SOR=0.792;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon6:c.A798G:p.L266L;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36058424;cosmic70=.;CLNALLELEID=277024;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN239472;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0037;ExAC_ALL=0.0031;ExAC_AFR=0.0003;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0046;ExAC_OTH=0.0067;ExAC_SAS=0.0022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,25:59:99:697,0,1014 1 158648490 rs325993 T C 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.18;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs325993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.4294;1000g2015aug_all=0.357029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 158654786 rs385096 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs385096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9957;1000g2015aug_all=0.969848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 158655036 rs435080 G A 1392.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=exonic;Gene=NM_003126;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPTA1:NM_003126:exon2:c.C126T:p.V42V;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs435080;cosmic70=.;CLNALLELEID=249471;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9957;1000g2015aug_all=0.969848;esp6500siv2_all=0.9732;ExAC_ALL=0.9920;ExAC_AFR=0.9089;ExAC_AMR=0.9954;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1421,132,0 1 158655162 rs2564859 C A 1032.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368147.8,ENST00000614909.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9957;1000g2015aug_all=0.969848;esp6500siv2_all=0.9736;ExAC_ALL=0.9920;ExAC_AFR=0.9090;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1061,108,0 1 158656281 rs2564858 T C 913.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPTA1;Func=intronic;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614909.4,ENST00000368147.8;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564858;cosmic70=.;CLNALLELEID=249472;CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9957;1000g2015aug_all=0.969848;esp6500siv2_all=0.9731;ExAC_ALL=0.9919;ExAC_AFR=0.9085;ExAC_AMR=0.9954;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:942,75,0 1 158656641 rs12096997 C A 247.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.998;1000g2015aug_eur=0.994;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.9928;1000g2015aug_all=0.966454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:276,24,0 1 158656653 rs452233 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_003126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs452233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9957;1000g2015aug_all=0.969848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 158735595 rs857824 C T 4168.77 PASS AC=2;AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.45;SOR=2.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6N1;Func=exonic;Gene=NM_001005185;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR6N1:NM_001005185:exon1:c.G878A:p.R293H;Gencode=Name\x3eENST00000335094.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.7839;1000g2015aug_all=0.667931;esp6500siv2_all=0.7380;ExAC_ALL=0.6795;ExAC_AFR=0.7778;ExAC_AMR=0.7928;ExAC_EAS=0.6194;ExAC_FIN=0.7229;ExAC_NFE=0.7031;ExAC_OTH=0.6729;ExAC_SAS=0.4570;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.217;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.627;MutationTaster_pred=P;MutationAssessor_score=3.84;MutationAssessor_pred=H;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=1.416;phyloP20way_mammalian=0.927;SiPhy_29way_logOdds=8.738;gerp++gt2=4.01;CADD=4.694;CADD_Phred=24.6;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,121:121:99:4197,363,0 1 158735691 rs857825 T C 6361.77 PASS AC=2;AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=0.805;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6N1;Func=exonic;Gene=NM_001005185;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR6N1:NM_001005185:exon1:c.A782G:p.Q261R;Gencode=Name\x3eENST00000335094.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.7839;1000g2015aug_all=0.667931;esp6500siv2_all=0.7380;ExAC_ALL=0.6795;ExAC_AFR=0.7779;ExAC_AMR=0.7929;ExAC_EAS=0.6201;ExAC_FIN=0.7225;ExAC_NFE=0.7032;ExAC_OTH=0.6729;ExAC_SAS=0.4565;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.75;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_pred=T;phyloP100way_vertebrate=2.805;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=12.189;gerp++gt2=4.74;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,186:186:99:6390,558,0 1 158735740 rs857826 A G 6666.77 PASS AC=2;AF=1;AN=2;DP=197;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6N1;Func=exonic;Gene=NM_001005185;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR6N1:NM_001005185:exon1:c.T733C:p.F245L;Gencode=Name\x3eENST00000335094.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.7839;1000g2015aug_all=0.667931;esp6500siv2_all=0.7380;ExAC_ALL=0.6796;ExAC_AFR=0.7780;ExAC_AMR=0.7928;ExAC_EAS=0.6203;ExAC_FIN=0.7225;ExAC_NFE=0.7033;ExAC_OTH=0.6729;ExAC_SAS=0.4571;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.91;MutationAssessor_pred=N;FATHMM_score=1.71;FATHMM_pred=T;phyloP100way_vertebrate=2.860;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=12.189;gerp++gt2=4.74;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,195:195:99:6695,585,0 1 158735892 rs857827 A G 4912.77 PASS AC=2;AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=0.783;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6N1;Func=exonic;Gene=NM_001005185;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR6N1:NM_001005185:exon1:c.T581C:p.I194T;Gencode=Name\x3eENST00000335094.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.7784;1000g2015aug_amr=0.7839;1000g2015aug_all=0.667931;esp6500siv2_all=0.7380;ExAC_ALL=0.6796;ExAC_AFR=0.7776;ExAC_AMR=0.7932;ExAC_EAS=0.6193;ExAC_FIN=0.7223;ExAC_NFE=0.7032;ExAC_OTH=0.6729;ExAC_SAS=0.4572;SIFT_score=0.623;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.146;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.42;MutationAssessor_pred=N;FATHMM_score=8.6;FATHMM_pred=T;phyloP100way_vertebrate=0.664;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=4.054;gerp++gt2=3.65;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,138:138:99:4941,415,0 1 158736215 rs6666753 G A 4128.77 PASS AC=2;AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=0.82;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR6N1;Func=exonic;Gene=NM_001005185;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR6N1:NM_001005185:exon1:c.C258T:p.L86L;Gencode=Name\x3eENST00000335094.3;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9087;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.9473;1000g2015aug_afr=0.73;1000g2015aug_amr=0.9308;1000g2015aug_all=0.8125;esp6500siv2_all=0.8644;ExAC_ALL=0.8701;ExAC_AFR=0.7437;ExAC_AMR=0.9563;ExAC_EAS=0.9184;ExAC_FIN=0.9256;ExAC_NFE=0.9203;ExAC_OTH=0.8579;ExAC_SAS=0.6396;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,115:115:99:4157,346,0 1 158813819 rs857870 A G 1400.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMNDA;Func=exonic;Gene=NM_002432;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MNDA:NM_002432:exon4:c.A477G:p.P159P;Gencode=Name\x3eENST00000368141.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs857870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.3071;1000g2015aug_amr=0.5447;1000g2015aug_all=0.528155;esp6500siv2_all=0.5047;ExAC_ALL=0.5601;ExAC_AFR=0.3666;ExAC_AMR=0.4990;ExAC_EAS=0.6692;ExAC_FIN=0.6326;ExAC_NFE=0.5771;ExAC_OTH=0.5518;ExAC_SAS=0.5702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1429,132,0 1 158817474 rs2261107 A G 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.152;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=-0.785;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMNDA;Func=intronic;Gene=NM_002432;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368141.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2261107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.334;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.2046;1000g2015aug_all=0.194089;esp6500siv2_all=0.2523;ExAC_ALL=0.2689;ExAC_AFR=0.1357;ExAC_AMR=0.1842;ExAC_EAS=0.2621;ExAC_FIN=0.3768;ExAC_NFE=0.3133;ExAC_OTH=0.2616;ExAC_SAS=0.1610;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,16:21:99:536,0,146 1 158817975 rs2820121 T C 846.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=6.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMNDA;Func=intronic;Gene=NM_002432;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368141.4;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e285\x3bName\x3e"279342:MIRb(SINE)";avsnp150=rs2820121;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.5533;1000g2015aug_all=0.544728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:875,63,0 1 158848721 rs2427820 T G 203.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.47;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002432,NM_152501;GeneDetail=dist\x3e29427\x3bdist\x3e52616;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2427820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9623;1000g2015aug_sas=0.7076;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.8429;1000g2015aug_all=0.782748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:232,24,0 1 158909164 rs2325704 C A 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.854;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.233;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392254.6,ENST00000368140.5,ENST00000368138.7,ENST00000368135.4,ENST00000392252.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2325704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.8271;1000g2015aug_all=0.797724;esp6500siv2_all=.;ExAC_ALL=0.7918;ExAC_AFR=0.7662;ExAC_AMR=0.8684;ExAC_EAS=0.8659;ExAC_FIN=0.7264;ExAC_NFE=0.7792;ExAC_OTH=0.7883;ExAC_SAS=0.7963;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:320,0,328 1 158913525 rs856082 A G 190.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.6;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392252.7,ENST00000392254.6,ENST00000368138.7,ENST00000368140.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs856082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.9625;1000g2015aug_all=0.916933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:219,15,0 1 158913532 rs4656498 C T 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=1.368;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392252.7,ENST00000392254.6,ENST00000368140.5,ENST00000368138.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.112;1000g2015aug_amr=0.3948;1000g2015aug_all=0.366014;esp6500siv2_all=0.3602;ExAC_ALL=0.4395;ExAC_AFR=0.1579;ExAC_AMR=0.3487;ExAC_EAS=0.5323;ExAC_FIN=0.4386;ExAC_NFE=0.4851;ExAC_OTH=0.4427;ExAC_SAS=0.4521;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,146 1 158913582 rs148854814 A G 165.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.582;DP=20;ExcessHet=3.0103;FS=4.285;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-0.154;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=exonic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PYHIN1:NM_152501:exon6:c.A1005G:p.K335K,PYHIN1:NM_198928:exon6:c.A978G:p.K326K,PYHIN1:NM_198929:exon6:c.A1005G:p.K335K,PYHIN1:NM_198930:exon6:c.A978G:p.K326K;Gencode=Name\x3eENST00000392252.7,ENST00000392254.6,ENST00000368138.7,ENST00000368140.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148854814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.013;1000g2015aug_all=0.00199681;esp6500siv2_all=0.0009;ExAC_ALL=0.0020;ExAC_AFR=0.0003;ExAC_AMR=0.0020;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0.0029;ExAC_OTH=0.0081;ExAC_SAS=0.0004;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:194,0,305 1 158920318 rs1102003 C T 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392252.7,ENST00000392254.6,ENST00000368138.7,ENST00000368140.5;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22092\x3bName\x3e"279479:HERVK22-int(LTR)";avsnp150=rs1102003;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.8977;1000g2015aug_all=0.832468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 158946145 rs1772440 G A 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392252.7,ENST00000392254.6,ENST00000368140.5,ENST00000368138.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.999;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6732;1000g2015aug_amr=0.9798;1000g2015aug_all=0.909944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 158946147 rs1772439 T G 376.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.99;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYHIN1;Func=intronic;Gene=NM_152501,NM_198928,NM_198929,NM_198930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368140.5,ENST00000368138.7,ENST00000392254.6,ENST00000392252.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6732;1000g2015aug_amr=0.9798;1000g2015aug_all=0.910543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:405,27,0 1 158986225 rs856042 T C 304.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368132.7,ENST00000359709.7,ENST00000295809.11,ENST00000340979.10,ENST00000368131.8,ENST00000448393.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs856042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.7863;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.8473;1000g2015aug_all=0.640575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:333,24,0 1 158986477 rs866484 G C 1134.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=exonic;Gene=NM_005531;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IFI16:NM_005531:exon4:c.G536C:p.S179T;Gencode=Name\x3eENST00000448393.6,ENST00000368131.8,ENST00000295809.11,ENST00000340979.10,ENST00000359709.7,ENST00000368132.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs866484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.682;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.4123;1000g2015aug_amr=0.8444;1000g2015aug_all=0.636182;esp6500siv2_all=0.6712;ExAC_ALL=0.7286;ExAC_AFR=0.4465;ExAC_AMR=0.8677;ExAC_EAS=0.6444;ExAC_FIN=0.7823;ExAC_NFE=0.7685;ExAC_OTH=0.7621;ExAC_SAS=0.6683;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.79;MutationAssessor_pred=N;FATHMM_score=2.26;FATHMM_pred=T;phyloP100way_vertebrate=-1.708;phyloP20way_mammalian=-0.629;SiPhy_29way_logOdds=4.615;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1163,108,0 1 158987780 rs856045 T A 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368132.7,ENST00000359709.7,ENST00000368131.8,ENST00000340979.10,ENST00000295809.11,ENST00000448393.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs856045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.994;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.9481;1000g2015aug_all=0.896565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 158987941 rs856046 A G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359709.7,ENST00000368132.7,ENST00000448393.6,ENST00000368131.8,ENST00000295809.11,ENST00000340979.10;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs856046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.7896;1000g2015aug_all=0.511382;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 158990074 rs145566327 A G 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=27;ExcessHet=3.0103;FS=3.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.79;SOR=0.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368131.8,ENST00000340979.10,ENST00000295809.11,ENST00000448393.6,ENST00000368132.7,ENST00000359709.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs145566327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.000998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,16:27:99:417,0,310 1 158990412 rs856049 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359709.7,ENST00000368132.7,ENST00000448393.6,ENST00000368131.8,ENST00000340979.10,ENST00000295809.11;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs856049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.8112;1000g2015aug_all=0.555511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 159002155 rs856058 T A 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359709.7,ENST00000368132.7,ENST00000448393.6,ENST00000368131.8,ENST00000295809.11,ENST00000340979.10;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e213\x3bName\x3e"279594:L2(LINE)";avsnp150=rs856058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.838;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.8674;1000g2015aug_all=0.632588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 159002222 rs861318 A G 1041.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=6.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368131.8,ENST00000295809.11,ENST00000340979.10,ENST00000448393.6,ENST00000368132.7,ENST00000359709.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e213\x3bName\x3e"279594:L2(LINE)";avsnp150=rs861318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.838;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.8689;1000g2015aug_all=0.632788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1070,78,0 1 159002301 rs2518553 T C 1987.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=1.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368131.8,ENST00000340979.10,ENST00000295809.11,ENST00000448393.6,ENST00000368132.7,ENST00000359709.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2518553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.838;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.8689;1000g2015aug_all=0.630192;esp6500siv2_all=0.6861;ExAC_ALL=0.7760;ExAC_AFR=0.4264;ExAC_AMR=0.8939;ExAC_EAS=0.6582;ExAC_FIN=0.8612;ExAC_NFE=0.8223;ExAC_OTH=0.8225;ExAC_SAS=0.7338;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2016,206,0 1 159002377 rs1057027 C A 2546.77 PASS AC=2;AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=exonic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IFI16:NM_001206567:exon6:c.C1057A:p.R353S,IFI16:NM_005531:exon7:c.C1225A:p.R409S;Gencode=Name\x3eENST00000448393.6,ENST00000340979.10,ENST00000295809.11,ENST00000368131.8,ENST00000359709.7,ENST00000368132.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.838;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.8689;1000g2015aug_all=0.63099;esp6500siv2_all=0.6861;ExAC_ALL=0.7674;ExAC_AFR=0.4021;ExAC_AMR=0.8913;ExAC_EAS=0.6382;ExAC_FIN=0.8596;ExAC_NFE=0.8191;ExAC_OTH=0.8172;ExAC_SAS=0.7299;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=3.8;FATHMM_pred=T;phyloP100way_vertebrate=0.210;phyloP20way_mammalian=-0.257;SiPhy_29way_logOdds=5.220;gerp++gt2=2.15;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,81:81:99:2575,243,0 1 159002389 rs1057028 T A 2529.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=exonic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IFI16:NM_001206567:exon6:c.T1069A:p.Y357N,IFI16:NM_005531:exon7:c.T1237A:p.Y413N;Gencode=Name\x3eENST00000448393.6,ENST00000340979.10,ENST00000295809.11,ENST00000368131.8,ENST00000359709.7,ENST00000368132.7;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.838;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.8689;1000g2015aug_all=0.630791;esp6500siv2_all=0.6861;ExAC_ALL=0.7674;ExAC_AFR=0.4023;ExAC_AMR=0.8912;ExAC_EAS=0.6376;ExAC_FIN=0.8594;ExAC_NFE=0.8191;ExAC_OTH=0.8172;ExAC_SAS=0.7299;SIFT_score=0.734;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.1;MutationAssessor_pred=N;FATHMM_score=3.73;FATHMM_pred=T;phyloP100way_vertebrate=-2.660;phyloP20way_mammalian=-1.901;SiPhy_29way_logOdds=0.105;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2558,240,0 1 159002557 rs1633256 A G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.05;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIFI16;Func=intronic;Gene=NM_001206567,NM_005531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368132.7,ENST00000359709.7,ENST00000295809.11,ENST00000340979.10,ENST00000368131.8,ENST00000448393.6;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1633256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.839;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.8689;1000g2015aug_all=0.629792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 159036276 rs41264455 G A 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.611;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAIM2;Func=intronic;Gene=NM_001348247,NM_004833;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368130.8,ENST00000612470.1;cytoBand=1q23.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0229;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0289537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:151,0,101 1 159162024 rs4656165 G C 556.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.963;DP=38;ExcessHet=3.0103;FS=1.403;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.263;SOR=1.119;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCADM3;Func=intronic;Gene=NM_001127173,NM_001346510,NM_021189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368124.8,ENST00000368125.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.111;1000g2015aug_all=0.0728834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:585,0,467 1 159163119 rs862990 C T 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.791;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.496;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCADM3;Func=intronic;Gene=NM_001127173,NM_001346510,NM_021189;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368124.8,ENST00000368125.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs862990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9286;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.7233;1000g2015aug_all=0.835463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:124,0,364 1 159169463 rs3027001 C T 934.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.853;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.844;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCADM3-AS1,CADM3;Func=ncRNA_intronic;Gene=NR_037870;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368124.8,ENST00000415675.3,ENST00000368125.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3027001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1282;1000g2015aug_all=0.0972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,39:80:99:963,0,952 1 159169641 rs862999 T C 834.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.761;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.338;SOR=0.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCADM3,CADM3-AS1;Func=exonic;Gene=NM_001127173,NM_001346510,NM_021189;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CADM3:NM_001127173:exon8:c.T1053C:p.L351L,CADM3:NM_001346510:exon8:c.T915C:p.L305L,CADM3:NM_021189:exon9:c.T1155C:p.L385L;Gencode=Name\x3eENST00000368125.8,ENST00000368124.8,ENST00000415675.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs862999;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.7205;1000g2015aug_all=0.83107;esp6500siv2_all=0.7896;ExAC_ALL=0.7743;ExAC_AFR=0.8885;ExAC_AMR=0.7773;ExAC_EAS=0.9296;ExAC_FIN=0.7612;ExAC_NFE=0.7380;ExAC_OTH=0.7721;ExAC_SAS=0.7712;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,30:62:99:863,0,792 1 159174885 rs7550207 T C 242.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.43;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.258;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACKR1;Func=intronic;Gene=NM_002036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537147.5,ENST00000368122.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.1931;1000g2015aug_all=0.117812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:271,0,254 1 159174920 rs863002 C T 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.301;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.456;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACKR1;Func=intronic;Gene=NM_002036;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537147.5,ENST00000368122.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs863002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.2867;1000g2015aug_all=0.200879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:203,0,117 1 159175193 rs3027016 A G 1026.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.65;DP=70;ExcessHet=3.0103;FS=1.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-2.121;SOR=0.973;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACKR1;Func=UTR5;Gene=NM_001122951;GeneDetail=NM_001122951:c.-31A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537147.5,ENST00000368121.3,ENST00000368122.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3027016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0567093;esp6500siv2_all=0.1102;ExAC_ALL=0.1116;ExAC_AFR=0.0235;ExAC_AMR=0.0741;ExAC_EAS=0.0004;ExAC_FIN=0.1545;ExAC_NFE=0.1510;ExAC_OTH=0.1460;ExAC_SAS=0.0481;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,36:69:99:1055,0,901 1 159175354 rs12075 G A 5858.77 PASS AC=2;AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACKR1;Func=exonic;Gene=NM_001122951,NM_002036;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ACKR1:NM_001122951:exon1:c.G131A:p.G44D,ACKR1:NM_002036:exon2:c.G125A:p.G42D;Gencode=Name\x3eENST00000537147.5,ENST00000368122.2,ENST00000368121.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12075;cosmic70=.;CLNALLELEID=32767;CLNDN=DUFFY_BLOOD_GROUP_SYSTEM,_FYA/FYB_POLYMORPHISM;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;gwasCatalog=Name\x3eWhite_blood_cell_count,Inflammatory_biomarkers,Educational_attainment,Obesity-related_traits,Monocyte_chemoattractant_protein-1;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.5389;1000g2015aug_all=0.540535;esp6500siv2_all=0.6923;ExAC_ALL=0.5235;ExAC_AFR=0.9268;ExAC_AMR=0.4208;ExAC_EAS=0.0507;ExAC_FIN=0.5059;ExAC_NFE=0.5756;ExAC_OTH=0.5431;ExAC_SAS=0.3841;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.355;MutationAssessor_pred=N;FATHMM_score=4.47;FATHMM_pred=T;phyloP100way_vertebrate=0.192;phyloP20way_mammalian=0.043;SiPhy_29way_logOdds=3.101;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,187:187:99:5887,561,0 1 159272060 rs2251746 T C 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCER1A;Func=intronic;Gene=NM_002001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368115.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eIgE_levels;1000g2015aug_eas=0.0446;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.1441;1000g2015aug_all=0.149161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 159276153 rs2252226 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCER1A;Func=intronic;Gene=NM_002001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368115.5,ENST00000368114.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e452\x3bName\x3e"280041:MIRc(SINE)";avsnp150=rs2252226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.5303;1000g2015aug_all=0.67512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 159320979 rs10908710 G A 700.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004467,NM_001348286;GeneDetail=dist\x3e36530\x3bdist\x3e80916;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.3761;1000g2015aug_all=0.265775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:729,69,0 1 159321259 rs10908711 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004467,NM_001348286;GeneDetail=dist\x3e36810\x3bdist\x3e80636;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.4885;1000g2015aug_all=0.396166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 159321675 rs4443888 G T 628.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004467,NM_001348286;GeneDetail=dist\x3e37226\x3bdist\x3e80220;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4443888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.4885;1000g2015aug_all=0.395567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:657,63,0 1 159402695 rs4491058 A C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=exonic;Gene=NM_001348286;GeneDetail=.;ExonicFunc=unknown;AAChange=UNKNOWN;Gencode=Name\x3eENST00000504970.1,ENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4491058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9761;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.9669;1000g2015aug_all=0.910942;esp6500siv2_all=.;ExAC_ALL=0.9670;ExAC_AFR=0.8008;ExAC_AMR=0.9822;ExAC_EAS=1;ExAC_FIN=0.9884;ExAC_NFE=0.9812;ExAC_OTH=0.9676;ExAC_SAS=0.9820;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 159409196 rs6691297 T C 942.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_012351;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9761;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.9625;1000g2015aug_all=0.904752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:971,84,0 1 159409533 rs10908721 G A 631.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10J1;Func=UTR5;Gene=NM_012351;GeneDetail=NM_012351:c.-16G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431862.1,ENST00000423932.4;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.9761;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.9654;1000g2015aug_all=0.910743;esp6500siv2_all=0.9103;ExAC_ALL=0.9622;ExAC_AFR=0.7709;ExAC_AMR=0.9781;ExAC_EAS=0.9999;ExAC_FIN=0.9888;ExAC_NFE=0.9779;ExAC_OTH=0.9536;ExAC_SAS=0.9772;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:660,54,0 1 159409734 rs10908722 G T 1965.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10J1;Func=exonic;Gene=NM_012351;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10J1:NM_012351:exon1:c.G186T:p.M62I;Gencode=Name\x3eENST00000423932.4,ENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9971;1000g2015aug_all=0.988219;esp6500siv2_all=0.9892;ExAC_ALL=0.9969;ExAC_AFR=0.9656;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=0.368;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.194;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.255;MutationAssessor_pred=N;FATHMM_score=4.11;FATHMM_pred=T;phyloP100way_vertebrate=-6.364;phyloP20way_mammalian=-0.956;SiPhy_29way_logOdds=2.818;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1994,177,0 1 159409857 rs12048482 A G 2351.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.56;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10J1;Func=exonic;Gene=NM_012351;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10J1:NM_012351:exon1:c.A309G:p.I103M;Gencode=Name\x3eENST00000423932.4,ENST00000431862.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12048482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.5101;1000g2015aug_all=0.479633;esp6500siv2_all=0.5882;ExAC_ALL=0.5630;ExAC_AFR=0.4820;ExAC_AMR=0.39;ExAC_EAS=0.2353;ExAC_FIN=0.5562;ExAC_NFE=0.6344;ExAC_OTH=0.5749;ExAC_SAS=0.6190;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=0.971;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.841;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.905;MutationAssessor_pred=M;FATHMM_score=7.13;FATHMM_pred=T;phyloP100way_vertebrate=-1.753;phyloP20way_mammalian=-0.779;SiPhy_29way_logOdds=3.694;gerp++gt2=.;CADD=1.718;CADD_Phred=14.51;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2380,198,0 1 159464390 rs6672704 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012351,NM_001004469;GeneDetail=dist\x3e53790\x3bdist\x3e40478;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10763\x3bName\x3e"280308:LTR12C(LTR)";avsnp150=rs6672704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.7911;1000g2015aug_all=0.801118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 159505101 rs35393723 G A 1223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.894;DP=105;ExcessHet=3.0103;FS=1.601;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.639;SOR=0.899;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10J5;Func=exonic;Gene=NM_001004469;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OR10J5:NM_001004469:exon1:c.C697T:p.R233W;Gencode=Name\x3eENST00000334857.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35393723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.1556;1000g2015aug_all=0.0984425;esp6500siv2_all=0.1399;ExAC_ALL=0.1618;ExAC_AFR=0.0448;ExAC_AMR=0.1453;ExAC_EAS=0.0099;ExAC_FIN=0.2568;ExAC_NFE=0.1943;ExAC_OTH=0.1861;ExAC_SAS=0.1559;SIFT_score=0.053;SIFT_pred=T;Polyphen2_HDIV_score=0.145;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.045;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.375;MutationAssessor_pred=M;FATHMM_score=8.06;FATHMM_pred=T;phyloP100way_vertebrate=-2.160;phyloP20way_mammalian=-0.283;SiPhy_29way_logOdds=5.142;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,43:105:99:1252,0,1758 1 159505297 rs4656837 C T 2572.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.371;DP=171;ExcessHet=3.0103;FS=1.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.379;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOR10J5;Func=exonic;Gene=NM_001004469;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OR10J5:NM_001004469:exon1:c.G501A:p.P167P;Gencode=Name\x3eENST00000334857.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.6614;1000g2015aug_all=0.552915;esp6500siv2_all=0.5983;ExAC_ALL=0.6475;ExAC_AFR=0.3657;ExAC_AMR=0.6656;ExAC_EAS=0.4722;ExAC_FIN=0.5944;ExAC_NFE=0.6972;ExAC_OTH=0.6289;ExAC_SAS=0.7253;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,94:171:99:2601,0,1889 1 159558258 rs2808661 A G 7168.77 PASS AC=2;AF=1;AN=2;DP=211;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=0.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPCS;Func=exonic;Gene=NM_001639;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=APCS:NM_001639:exon2:c.A432G:p.V144V;Gencode=Name\x3eENST00000255040.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2808661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.7526;1000g2015aug_eur=0.839;1000g2015aug_afr=0.9834;1000g2015aug_amr=0.9063;1000g2015aug_all=0.900359;esp6500siv2_all=0.8667;ExAC_ALL=0.8462;ExAC_AFR=0.9661;ExAC_AMR=0.9241;ExAC_EAS=0.9880;ExAC_FIN=0.9038;ExAC_NFE=0.8163;ExAC_OTH=0.8344;ExAC_SAS=0.7404;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,210:210:99:7197,630,0 1 159558672 rs28383573 G T 303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.135;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-0.733;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001639;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28383573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0309505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:332,0,241 1 159684186 rs1417938 T A 668.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRP;Func=intronic;Gene=NM_000567,NM_001329057,NM_001329058;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368112.5,ENST00000368111.5,ENST00000368110.1,ENST00000255030.9,ENST00000437342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1417938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0556;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.326;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.3228;1000g2015aug_all=0.192093;esp6500siv2_all=0.2460;ExAC_ALL=0.2781;ExAC_AFR=0.1209;ExAC_AMR=0.3786;ExAC_EAS=0.0623;ExAC_FIN=0.3588;ExAC_NFE=0.3144;ExAC_OTH=0.2759;ExAC_SAS=0.2391;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:697,66,0 1 159749110 rs3806186 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329058,NM_017823;GeneDetail=dist\x3e64731\x3bdist\x3e1626;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.335;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.4942;1000g2015aug_all=0.473243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 159749188 rs3820099 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001329058,NM_017823;GeneDetail=dist\x3e64809\x3bdist\x3e1548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7768;1000g2015aug_sas=0.5828;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.6225;1000g2015aug_all=0.63778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 159778363 rs111529495 C A 1157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.47;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.457;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392235.7,ENST00000368106.3,ENST00000321935.10,ENST00000339348.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.923353\x3bName\x3echr1:159972563;Repeat=.;avsnp150=rs111529495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.0378;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0936502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,40:92:99:1186,0,1581 1 159778523 rs6692290 C T 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.097;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.437;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339348.9,ENST00000321935.10,ENST00000368106.3,ENST00000392235.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.923353\x3bName\x3echr1:159972563;Repeat=Score\x3e223\x3bName\x3e"280834:MIR3(SINE)";avsnp150=rs6692290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.2363;1000g2015aug_all=0.265176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:183,0,176 1 159778572 rs6656168 A G 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=14.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.755;SOR=2.778;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000321935.10,ENST00000339348.9,ENST00000392235.7,ENST00000368106.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.923353\x3bName\x3echr1:159972563;Repeat=.;avsnp150=rs6656168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.1135;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.2349;1000g2015aug_all=0.260383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,262 1 159778983 rs12083967 T C 361.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.915;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.395;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=exonic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCRL6:NM_001004310:exon4:c.T552C:p.P184P,FCRL6:NM_001284217:exon5:c.T573C:p.P191P;Gencode=Name\x3eENST00000392235.7,ENST00000368106.3,ENST00000321935.10,ENST00000339348.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.923353\x3bName\x3echr1:159972563;Repeat=.;avsnp150=rs12083967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1855;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.2363;1000g2015aug_all=0.271565;esp6500siv2_all=0.2793;ExAC_ALL=0.2157;ExAC_AFR=0.4877;ExAC_AMR=0.2150;ExAC_EAS=0.2211;ExAC_FIN=0.1521;ExAC_NFE=0.1950;ExAC_OTH=0.1920;ExAC_SAS=0.1388;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,14:39:99:390,0,766 1 159783148 rs55650803 C T 279.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.852;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.353;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392235.7,ENST00000368106.3,ENST00000321935.10,ENST00000339348.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55650803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.3896;1000g2015aug_amr=0.2233;1000g2015aug_all=0.232228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:308,0,396 1 159783559 rs58240276 C T 464.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.135;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.099;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368106.3,ENST00000392235.7,ENST00000339348.9,ENST00000321935.10;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58240276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.2205;1000g2015aug_all=0.232428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:493,0,533 1 159783851 rs11590961 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339348.9,ENST00000321935.10,ENST00000368106.3,ENST00000392235.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.2233;1000g2015aug_all=0.232827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:75,0,71 1 159784174 rs80302193 A G 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.254;DP=22;ExcessHet=3.0103;FS=4.761;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=-0.459;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000321935.10,ENST00000339348.9,ENST00000392235.7,ENST00000368106.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80302193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.111;1000g2015aug_all=0.107428;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,15:22:99:524,0,124 1 159785284 rs4411129 C G 1563.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.604;DP=100;ExcessHet=3.0103;FS=0.758;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.475;SOR=0.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=intronic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368106.3,ENST00000392235.7,ENST00000339348.9,ENST00000321935.10;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4411129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.6948;1000g2015aug_afr=0.9614;1000g2015aug_amr=0.8184;1000g2015aug_all=0.795727;esp6500siv2_all=0.7788;ExAC_ALL=0.7419;ExAC_AFR=0.9267;ExAC_AMR=0.8441;ExAC_EAS=0.8159;ExAC_FIN=0.7077;ExAC_NFE=0.7017;ExAC_OTH=0.7302;ExAC_SAS=0.6917;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,55:100:99:1592,0,1170 1 159785370 rs4301626 T C 1832.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.578;DP=135;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.808;SOR=0.664;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=exonic;Gene=NM_001004310,NM_001284217;GeneDetail=.;ExonicFunc=stoploss;AAChange=FCRL6:NM_001284217:exon11:c.T1240C:p.X414R;Gencode=Name\x3eENST00000368106.3,ENST00000392235.7,ENST00000339348.9,ENST00000321935.10;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4301626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.0616;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.1499;1000g2015aug_all=0.191693;esp6500siv2_all=0.1751;ExAC_ALL=0.1077;ExAC_AFR=0.4051;ExAC_AMR=0.1578;ExAC_EAS=0.1941;ExAC_FIN=0.0454;ExAC_NFE=0.0600;ExAC_OTH=0.0826;ExAC_SAS=0.0590;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.404;phyloP20way_mammalian=0.841;SiPhy_29way_logOdds=0.269;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,70:135:99:1861,0,1805 1 159785425 rs4443889 A G 1737.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.466;DP=118;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.465;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRL6;Func=exonic;Gene=NM_001004310;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRL6:NM_001004310:exon10:c.A1279G:p.S427G;Gencode=Name\x3eENST00000368106.3,ENST00000339348.9,ENST00000321935.10;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4443889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.2334;1000g2015aug_all=0.253195;esp6500siv2_all=0.2787;ExAC_ALL=0.2072;ExAC_AFR=0.4400;ExAC_AMR=0.2156;ExAC_EAS=0.2099;ExAC_FIN=0.1470;ExAC_NFE=0.1970;ExAC_OTH=0.1905;ExAC_SAS=0.1190;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.61;MutationAssessor_pred=N;FATHMM_score=5.15;FATHMM_pred=T;phyloP100way_vertebrate=0.360;phyloP20way_mammalian=-0.005;SiPhy_29way_logOdds=6.123;gerp++gt2=2.01;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,65:118:99:1766,0,1337 1 159802627 rs2494480 A C 1717.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.879;DP=136;ExcessHet=3.0103;FS=0.638;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.159;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF8;Func=intronic;Gene=NM_001330741,NM_020125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368104.4,ENST00000289707.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.1527;1000g2015aug_all=0.322684;esp6500siv2_all=0.1912;ExAC_ALL=0.1874;ExAC_AFR=0.4114;ExAC_AMR=0.1672;ExAC_EAS=0.4878;ExAC_FIN=0.1325;ExAC_NFE=0.1079;ExAC_OTH=0.1822;ExAC_SAS=0.2679;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,63:136:99:1746,0,1981 1 159805180 rs139125332 G A 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.415;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf204,SLAMF8;Func=ncRNA_exonic;Gene=NR_147122,NR_147123,NR_147124,NR_147125;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368104.4,ENST00000368102.5,ENST00000289707.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139125332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,143 1 159825916 rs11587021 C T 1057.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.292;DP=67;ExcessHet=3.0103;FS=0.965;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.308;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11587021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.4467;1000g2015aug_all=0.296126;esp6500siv2_all=0.2928;ExAC_ALL=0.3920;ExAC_AFR=0.0861;ExAC_AMR=0.5077;ExAC_EAS=0.3380;ExAC_FIN=0.4205;ExAC_NFE=0.4198;ExAC_OTH=0.3811;ExAC_SAS=0.3855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,35:67:99:1086,0,894 1 159826048 rs2494500 C T 1284.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.06;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9732;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.99381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1313,102,0 1 159826648 rs34413912 C T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.12;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34413912;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.4496;1000g2015aug_all=0.297125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,170 1 159827456 rs2494503 A G 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.215;DP=47;ExcessHet=3.0103;FS=2.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.709;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.673;1000g2015aug_afr=0.559;1000g2015aug_amr=0.755;1000g2015aug_all=0.661342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,17:47:99:418,0,840 1 159828128 rs2494504 A G 1411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.575;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.285;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1,ENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9233;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.8905;1000g2015aug_all=0.930711;esp6500siv2_all=0.9000;ExAC_ALL=0.9008;ExAC_AFR=0.9734;ExAC_AMR=0.9398;ExAC_EAS=0.9475;ExAC_FIN=0.8390;ExAC_NFE=0.8748;ExAC_OTH=0.8905;ExAC_SAS=0.9336;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,55:106:99:1440,0,1461 1 159828746 rs2501337 G A 357.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.723;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.626;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1,ENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.745;1000g2015aug_sas=0.636;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.7493;1000g2015aug_all=0.638978;esp6500siv2_all=0.6094;ExAC_ALL=0.6731;ExAC_AFR=0.4875;ExAC_AMR=0.8253;ExAC_EAS=0.7199;ExAC_FIN=0.6552;ExAC_NFE=0.6791;ExAC_OTH=0.6690;ExAC_SAS=0.6383;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,12:25:99:386,0,456 1 159832126 rs7519222 G A 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.032;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.09;ReadPosRankSum=-1.48;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=intronic;Gene=NM_001013661;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544342.1,ENST00000368100.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7519222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:410,0,235 1 159832425 rs2494507 G A 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.117;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.452;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVSIG8;Func=UTR5;Gene=NM_001013661;GeneDetail=NM_001013661:c.-114C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368100.1,ENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.662;1000g2015aug_afr=0.233;1000g2015aug_amr=0.5778;1000g2015aug_all=0.495008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:196,0,413 1 159842088 rs2494518 T A 466.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.343;DP=30;ExcessHet=3.0103;FS=4.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.706;SOR=2.376;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8442;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.8253;1000g2015aug_amr=0.8228;1000g2015aug_all=0.798522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:495,0,385 1 159842103 rs11265289 C T 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.045;DP=32;ExcessHet=3.0103;FS=4.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.662;SOR=2.101;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.662;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.5692;1000g2015aug_all=0.472444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:496,0,478 1 159842379 rs34241039 A G 1899.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.56;DP=150;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.244;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP45;Func=intronic;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368099.8,ENST00000426543.6,ENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34241039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.098;1000g2015aug_all=0.0449281;esp6500siv2_all=0.0773;ExAC_ALL=0.0736;ExAC_AFR=0.0219;ExAC_AMR=0.0519;ExAC_EAS=0.0001;ExAC_FIN=0.0999;ExAC_NFE=0.0996;ExAC_OTH=0.0795;ExAC_SAS=0.0440;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,71:150:99:1928,0,2116 1 159842566 rs4545332 T A 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=1.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.468;SOR=1.207;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP45;Func=intronic;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368099.8,ENST00000426543.6,ENST00000544342.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4545332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.664;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.7075;1000g2015aug_all=0.608826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:310,0,476 1 159842691 rs4460634 C G 327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.249;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.52;SOR=0.971;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP45;Func=intronic;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544342.1,ENST00000426543.6,ENST00000368099.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4460634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.664;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.7075;1000g2015aug_all=0.609026;esp6500siv2_all=0.5597;ExAC_ALL=0.6600;ExAC_AFR=0.3649;ExAC_AMR=0.7876;ExAC_EAS=0.7648;ExAC_FIN=0.6543;ExAC_NFE=0.6683;ExAC_OTH=0.6457;ExAC_SAS=0.6737;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,12:37:99:356,0,694 1 159854392 rs2501325 C A 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.328;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP45;Func=intronic;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426543.6,ENST00000368099.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.7604;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.8228;1000g2015aug_all=0.801318;esp6500siv2_all=0.7800;ExAC_ALL=0.7799;ExAC_AFR=0.8136;ExAC_AMR=0.8824;ExAC_EAS=0.8376;ExAC_FIN=0.6969;ExAC_NFE=0.7657;ExAC_OTH=0.7655;ExAC_SAS=0.7473;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:112,0,104 1 159860259 rs2501320 G A 1754.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.533;DP=128;ExcessHet=3.0103;FS=1.443;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.889;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFAP45;Func=intronic;Gene=NM_012337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368099.8,ENST00000426543.6;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.1931;1000g2015aug_all=0.189097;esp6500siv2_all=0.2688;ExAC_ALL=0.2727;ExAC_AFR=0.1052;ExAC_AMR=0.1353;ExAC_EAS=0.2007;ExAC_FIN=0.3273;ExAC_NFE=0.3469;ExAC_OTH=0.2881;ExAC_SAS=0.1890;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,65:126:99:1783,0,1708 1 159889686 rs2252815 G A 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.563;DP=40;ExcessHet=3.0103;FS=4.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.507;SOR=0.415;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAGLN2;Func=intronic;Gene=NM_001277223,NM_001277224,NM_003564;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368097.8,ENST00000320307.8,ENST00000368096.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.967442\x3bName\x3echr8:106696756;Repeat=.;avsnp150=rs2252815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.6282;1000g2015aug_all=0.510583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,23:40:99:602,0,488 1 159890459 rs11265297 T C 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.95;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.281;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAGLN2;Func=intronic;Gene=NM_001277223,NM_001277224,NM_003564;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368097.8,ENST00000320307.8,ENST00000368096.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.2594;1000g2015aug_all=0.296725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,12:33:99:300,0,539 1 159897126 rs13052 C T 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.929;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=UTR3;Gene=NM_001135050,NM_020789;GeneDetail=NM_001135050:c.*9G>A\x3bNM_020789:c.*9G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.7663;1000g2015aug_amr=0.6268;1000g2015aug_all=0.667332;esp6500siv2_all=0.5987;ExAC_ALL=0.5858;ExAC_AFR=0.7307;ExAC_AMR=0.6284;ExAC_EAS=0.7255;ExAC_FIN=0.5002;ExAC_NFE=0.5374;ExAC_OTH=0.5553;ExAC_SAS=0.6240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:170,0,295 1 159897388 rs1934074 C T 1349.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.55;DP=102;ExcessHet=3.0103;FS=5.024;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.628;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000361509.7,ENST00000368094.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1934074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.3804;1000g2015aug_all=0.379792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,50:101:99:1378,0,1320 1 159898100 rs3747615 A G 424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=29;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.864;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=exonic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IGSF9:NM_001135050:exon19:c.T3078C:p.S1026S,IGSF9:NM_020789:exon19:c.T3030C:p.S1010S;Gencode=Name\x3eENST00000611023.1,ENST00000361509.7,ENST00000368094.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.5403;1000g2015aug_all=0.501597;esp6500siv2_all=0.3946;ExAC_ALL=0.4880;ExAC_AFR=0.3966;ExAC_AMR=0.5755;ExAC_EAS=0.6926;ExAC_FIN=0.4438;ExAC_NFE=0.4501;ExAC_OTH=0.4318;ExAC_SAS=0.5322;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:453,0,345 1 159898913 rs7543462 A G 368.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.571;DP=26;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.309;SOR=0.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7153;1000g2015aug_sas=0.638;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.6354;1000g2015aug_all=0.669329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:397,0,453 1 159902526 rs3827531 T C 628.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.927;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.044;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368094.5,ENST00000361509.7,ENST00000611023.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3827531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7113;1000g2015aug_sas=0.638;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.6383;1000g2015aug_all=0.669129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:657,0,501 1 159902786 rs12139175 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.365;1000g2015aug_eur=0.335;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.3487;1000g2015aug_all=0.317891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 159906156 rs10908750 A G 579.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.665;DP=38;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.224;SOR=0.454;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.3646;1000g2015aug_all=0.327276;esp6500siv2_all=0.2945;ExAC_ALL=0.3640;ExAC_AFR=0.1805;ExAC_AMR=0.4112;ExAC_EAS=0.4693;ExAC_FIN=0.3656;ExAC_NFE=0.3625;ExAC_OTH=0.3356;ExAC_SAS=0.3940;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,23:38:99:608,0,415 1 159906849 rs10797055 A G 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.312;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.4769;1000g2015aug_all=0.542931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,161 1 159907362 rs7524321 A G 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.158;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=-1.261;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4643;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.416;1000g2015aug_amr=0.4092;1000g2015aug_all=0.419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:276,0,382 1 159907367 rs7526647 T C 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.28;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=-0.371;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4653;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.4191;1000g2015aug_amr=0.4092;1000g2015aug_all=0.420327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:273,0,420 1 159913053 rs41264841 C T 1351.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.385;DP=78;ExcessHet=3.0103;FS=1.009;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.909;SOR=0.555;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=intronic;Gene=NM_001135050,NM_020789;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000368094.5,ENST00000361509.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.1037;1000g2015aug_all=0.0840655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,46:77:99:1380,0,929 1 159913388 rs1316275 G A 669.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF9;Func=UTR5;Gene=NM_001135050,NM_020789;GeneDetail=NM_001135050:c.-144C>T\x3bNM_020789:c.-144C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611023.1,ENST00000361509.7,ENST00000368094.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1316275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.6247;1000g2015aug_eur=0.5189;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.5807;1000g2015aug_all=0.551318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:698,51,0 1 159922369 rs2840583 C T 1958.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=1.903;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF9;Func=intronic;Gene=NM_001146172,NM_001146173,NM_033438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368093.3,ENST00000368092.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8956;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.9395;1000g2015aug_all=0.892772;esp6500siv2_all=0.8596;ExAC_ALL=0.9032;ExAC_AFR=0.7527;ExAC_AMR=0.9632;ExAC_EAS=0.9998;ExAC_FIN=0.8770;ExAC_NFE=0.9057;ExAC_OTH=0.9066;ExAC_SAS=0.9022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1987,177,0 1 159922959 rs2249707 C T 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF9;Func=intronic;Gene=NM_001146172,NM_001146173,NM_033438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368092.7,ENST00000368093.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2249707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.7025;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.6513;1000g2015aug_all=0.585463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 159923111 rs2789417 T G 3057.77 PASS AC=2;AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=2.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF9;Func=exonic;Gene=NM_001146172,NM_033438;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLAMF9:NM_001146172:exon2:c.A379C:p.I127L,SLAMF9:NM_033438:exon2:c.A379C:p.I127L;Gencode=Name\x3eENST00000368092.7,ENST00000368093.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.9409;1000g2015aug_all=0.890176;esp6500siv2_all=0.8586;ExAC_ALL=0.9030;ExAC_AFR=0.7506;ExAC_AMR=0.9629;ExAC_EAS=0.9998;ExAC_FIN=0.8774;ExAC_NFE=0.9060;ExAC_OTH=0.9104;ExAC_SAS=0.9040;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-3.23;MutationAssessor_pred=N;FATHMM_score=2.08;FATHMM_pred=T;phyloP100way_vertebrate=2.414;phyloP20way_mammalian=0.133;SiPhy_29way_logOdds=11.471;gerp++gt2=5.28;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,85:85:99:3086,255,0 1 159923628 rs2789416 A C 95.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF9;Func=intronic;Gene=NM_001146172,NM_001146173,NM_033438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368093.3,ENST00000368092.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.9409;1000g2015aug_all=0.889976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:123,9,0 1 159924320 rs2789415 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001146172,NM_001146173,NM_033438;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.9409;1000g2015aug_all=0.890375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 159942456 rs2789424 C T 76.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.703;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.414;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01133;Func=ncRNA_intronic;Gene=NR_038849;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423943.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.923353\x3bName\x3echr1:159807997;Repeat=.;avsnp150=rs2789424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9623;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.7767;1000g2015aug_all=0.629992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:67:105,0,67 1 160012406 rs12729701 A G 2712.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=2.084;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNJ10;Func=intronic;Gene=NM_002241;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368089.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12729701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.3793;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.034;1000g2015aug_amr=0.1628;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2741,246,0 1 160033143 rs7512587 T C 61.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNJ10;Func=intronic;Gene=NM_002241;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368089.3,ENST00000435580.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.6543;1000g2015aug_amr=0.5519;1000g2015aug_all=0.650559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:89,9,0 1 160054894 rs11587172 G T 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.166;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.169;SOR=2.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNJ9;Func=intronic;Gene=NM_004983;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368088.3;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11587172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.2997;1000g2015aug_all=0.309704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,146 1 160064592 rs12044027 T C 247.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.675;DP=22;ExcessHet=3.0103;FS=3.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.201;SOR=0.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGSF8;Func=intronic;Gene=NM_001206665,NM_001320247,NM_052868;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368086.5,ENST00000614243.4,ENST00000314485.11;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e552\x3bName\x3e"281327:MIR3(SINE)";avsnp150=rs12044027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.2853;1000g2015aug_all=0.260383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:276,0,477 1 160085868 rs2854244 A C 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.931;DP=17;ExcessHet=3.0103;FS=7.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=-1.213;SOR=0.048;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361216.7,ENST00000392233.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"281374:(CACAGCC)n(Simple_repeat)";avsnp150=rs2854244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.492;1000g2015aug_afr=0.5938;1000g2015aug_amr=0.5476;1000g2015aug_all=0.578474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,5:17:99:124,0,416 1 160085955 rs2070700 A C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361216.7,ENST00000392233.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.1997;1000g2015aug_amr=0.3242;1000g2015aug_all=0.303315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 160090674 rs2854246 T C 997.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2854246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9998;ExAC_ALL=0.9999;ExAC_AFR=0.9997;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1026,96,0 1 160093222 rs2820581 C T 3654.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=0.995;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820581;cosmic70=.;CLNALLELEID=194324;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.9827;1000g2015aug_all=0.942492;esp6500siv2_all=0.9494;ExAC_ALL=0.9849;ExAC_AFR=0.8451;ExAC_AMR=0.9933;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9990;ExAC_OTH=0.9967;ExAC_SAS=0.9956;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3683,333,0 1 160093911 rs2820582 T C 1983.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=1.057;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.9885;1000g2015aug_all=0.954673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2012,186,0 1 160093942 rs17846707 G A 542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.223;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.811;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17846707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.172;1000g2015aug_afr=0.1112;1000g2015aug_amr=0.0706;1000g2015aug_all=0.172724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:571,0,778 1 160094458 rs1321655 A G 107.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1321655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=1;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9928;1000g2015aug_all=0.977037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:135,12,0 1 160095127 rs7548116 T A 589.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.847;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.618;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361216.7,ENST00000392233.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.5144;1000g2015aug_all=0.577676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,20:39:99:618,0,548 1 160097666 rs6695366 G A 1076.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6637;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.835;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.719;1000g2015aug_all=0.815296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:95:1105,95,0 1 160100521 rs74494644 A G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.716;DP=35;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.202;SOR=0.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74494644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:445,0,770 1 160106531 rs12083034 G A 4259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.525;DP=368;ExcessHet=3.0103;FS=4.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-2.243;SOR=0.913;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0828674;esp6500siv2_all=0.1099;ExAC_ALL=0.0714;ExAC_AFR=0.1795;ExAC_AMR=0.0448;ExAC_EAS=0;ExAC_FIN=0.0664;ExAC_NFE=0.0768;ExAC_OTH=0.0837;ExAC_SAS=0.0390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:205,161:366:99:4288,0,5389 1 160106857 rs111331208 G A 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.989;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.652;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A2;Func=intronic;Gene=NM_000702;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392233.7,ENST00000361216.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111331208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00399361;esp6500siv2_all=0.0144;ExAC_ALL=0.0136;ExAC_AFR=0.0033;ExAC_AMR=0.0070;ExAC_EAS=0;ExAC_FIN=0.0092;ExAC_NFE=0.0202;ExAC_OTH=0.0099;ExAC_SAS=0.0073;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:237,0,378 1 160121746 rs746362 C T 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.11;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.978;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=UTR5;Gene=NM_144699;GeneDetail=NM_144699:c.-85C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs746362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2738;1000g2015aug_all=0.270367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:402,0,336 1 160121754 rs76482004 C T 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.871;DP=26;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.624;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=UTR5;Gene=NM_144699;GeneDetail=NM_144699:c.-77C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76482004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.0504;1000g2015aug_all=0.0399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:306,0,576 1 160122826 rs11265335 G A 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.108;DP=28;ExcessHet=3.0103;FS=7.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=1.895;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2098\x3bName\x3e"281445:AluSx1(SINE)";avsnp150=rs11265335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3125;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2853;1000g2015aug_all=0.271965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,18:28:99:536,0,286 1 160124875 rs6427504 G A 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.981;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.51;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=exonic;Gene=NM_144699;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ATP1A4:NM_144699:exon3:c.G248A:p.G83D;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.7104;1000g2015aug_all=0.693091;esp6500siv2_all=0.7271;ExAC_ALL=0.6977;ExAC_AFR=0.7587;ExAC_AMR=0.6682;ExAC_EAS=0.6695;ExAC_FIN=0.6489;ExAC_NFE=0.7133;ExAC_OTH=0.7170;ExAC_SAS=0.6498;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.181;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-3.14;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;phyloP100way_vertebrate=6.303;phyloP20way_mammalian=0.168;SiPhy_29way_logOdds=8.284;gerp++gt2=4.48;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:99:124,0,99 1 160126138 rs927203 C T 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.271;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1263\x3bName\x3e"281451:L1MC4(LINE)";avsnp150=rs927203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.4864;1000g2015aug_amr=0.6081;1000g2015aug_all=0.574481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,292 1 160126188 rs12144820 G A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.464;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1263\x3bName\x3e"281451:L1MC4(LINE)";avsnp150=rs12144820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.304;1000g2015aug_all=0.29393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,133 1 160128671 rs4656888 G A 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.776;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.495;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.4971;1000g2015aug_all=0.340655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:634,0,705 1 160128994 rs10908764 C T 1505.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=2.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.8539;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.9006;1000g2015aug_all=0.86881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1534,126,0 1 160129495 rs7551983 G A 91.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e408\x3bName\x3e"281461:MIR(SINE)";avsnp150=rs7551983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.6643;1000g2015aug_all=0.556709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:120,0,27 1 160134205 rs11265338 C T 614.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.39;DP=50;ExcessHet=3.0103;FS=1.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.534;SOR=0.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=exonic;Gene=NM_144699;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP1A4:NM_144699:exon7:c.C1038T:p.A346A;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5417;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.357;1000g2015aug_amr=0.6758;1000g2015aug_all=0.528754;esp6500siv2_all=0.5505;ExAC_ALL=0.6055;ExAC_AFR=0.3972;ExAC_AMR=0.7271;ExAC_EAS=0.5870;ExAC_FIN=0.6479;ExAC_NFE=0.6280;ExAC_OTH=0.6134;ExAC_SAS=0.5529;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:643,0,856 1 160136208 rs10797062 G A 112.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.16;MQRankSum=0.549;QD=9.4;ReadPosRankSum=-0.55;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.7291;1000g2015aug_all=0.660743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:141,0,232 1 160136350 rs7529215 G A 1656.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.702;DP=119;ExcessHet=3.0103;FS=5.941;MLEAC=1;MLEAF=0.5;MQ=59.71;MQRankSum=-2.306;QD=14.04;ReadPosRankSum=-0.296;SOR=1.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=exonic;Gene=NM_144699;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP1A4:NM_144699:exon8:c.G1080A:p.A360A;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7529215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.5757;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.5375;1000g2015aug_all=0.468251;esp6500siv2_all=0.4876;ExAC_ALL=0.5294;ExAC_AFR=0.3225;ExAC_AMR=0.5305;ExAC_EAS=0.4521;ExAC_FIN=0.4971;ExAC_NFE=0.5622;ExAC_OTH=0.5938;ExAC_SAS=0.5761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,58:118:99:1685,0,1705 1 160137300 rs4656889 A C 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.437;DP=29;ExcessHet=3.0103;FS=8.306;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.44;ReadPosRankSum=0.635;SOR=2.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.6081;1000g2015aug_all=0.577476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,8:29:99:215,0,620 1 160140886 rs1202164 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1202164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=1;1000g2015aug_all=0.998003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 160140998 rs1209804 G A 879.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1209804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9167;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.2746;1000g2015aug_amr=0.6037;1000g2015aug_all=0.563099;esp6500siv2_all=0.4575;ExAC_ALL=0.5618;ExAC_AFR=0.2976;ExAC_AMR=0.6814;ExAC_EAS=0.9039;ExAC_FIN=0.5858;ExAC_NFE=0.5291;ExAC_OTH=0.5548;ExAC_SAS=0.5884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:908,75,0 1 160141196 rs625549 C T 3254.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=exonic;Gene=NM_144699;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP1A4:NM_144699:exon11:c.C1647T:p.Y549Y;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs625549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.9957;1000g2015aug_all=0.993011;esp6500siv2_all=0.9919;ExAC_ALL=0.9978;ExAC_AFR=0.9765;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9978;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,101:101:99:3283,302,0 1 160141285 rs669162 C T 1479.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.482;DP=90;ExcessHet=3.0103;FS=0.791;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.999;SOR=0.814;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs669162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.3415;1000g2015aug_all=0.280551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,40:90:99:1508,0,2839 1 160141286 rs625129 C G 1479.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.755;DP=89;ExcessHet=3.0103;FS=0.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.871;SOR=0.856;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1A4;Func=intronic;Gene=NM_144699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368081.8;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs625129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.4891;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.5648;1000g2015aug_all=0.519169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,40:89:99:1508,0,2839 1 160162872 rs617698 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs617698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.3761;1000g2015aug_all=0.321885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 160163446 rs3747621 C T 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.055;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.025;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.5288;1000g2015aug_all=0.482628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,22:49:99:691,0,878 1 160163509 rs3747623 C T 1171.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.603;DP=93;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.915;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.3646;1000g2015aug_all=0.303914;esp6500siv2_all=0.2900;ExAC_ALL=0.3682;ExAC_AFR=0.0949;ExAC_AMR=0.4149;ExAC_EAS=0.5469;ExAC_FIN=0.4058;ExAC_NFE=0.3924;ExAC_OTH=0.3597;ExAC_SAS=0.3019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,47:93:99:1200,0,1221 1 160163815 rs116123807 C G 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.075;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e333\x3bName\x3e"281516:(CA)n(Simple_repeat)";avsnp150=rs116123807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.3646;1000g2015aug_all=0.304912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:318,0,412 1 160163816 rs34277881 T G 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=0.564;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e333\x3bName\x3e"281516:(CA)n(Simple_repeat)";avsnp150=rs34277881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.273;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.3646;1000g2015aug_all=0.305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:318,0,412 1 160164668 rs1186693 T C 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.95;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e333\x3bName\x3e"281516:(CA)n(Simple_repeat)";avsnp150=rs1186693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9928;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 160165095 rs2275703 A C 805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.677;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.622;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.4337;1000g2015aug_all=0.315096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,26:50:99:834,0,655 1 160165451 rs10908769 C T 377.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.186;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.18;ReadPosRankSum=0.871;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.4265;1000g2015aug_all=0.350639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,12:15:55:406,0,55 1 160168368 rs822450 G A 595.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.753;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.964;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7,ENST00000467691.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs822450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.3977;1000g2015aug_all=0.325679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,25:72:99:624,0,1264 1 160169473 rs959166 T C 479.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCASQ1;Func=intronic;Gene=NM_001231;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368078.7,ENST00000467691.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs959166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9629;1000g2015aug_amr=0.9986;1000g2015aug_all=0.990016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:508,39,0 1 160178356 rs667306 A G 2617.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEA15,LOC729867;Func=ncRNA_intronic;Gene=NR_123725;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418602.1,ENST00000368076.1,ENST00000360472.8,ENST00000368077.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs667306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.9986;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=0.9980;ExAC_AFR=0.9632;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2646,237,0 1 160214027 rs2275700 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF8;Func=intronic;Gene=NM_015726;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368073.7,ENST00000326837.6,ENST00000610139.5,ENST00000556710.5,ENST00000475733.5,ENST00000368074.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275700;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5951;1000g2015aug_all=0.670727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 160236470 rs11265366 T A 792.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.073;DP=53;ExcessHet=3.0103;FS=2.375;MLEAC=1;MLEAF=0.5;MQ=58.85;MQRankSum=-2.637;QD=14.96;ReadPosRankSum=-0.619;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_147618,NM_001193644;GeneDetail=dist\x3e3902\x3bdist\x3e10129;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000556710.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=Score\x3e0.959223\x3bName\x3echrX:44741009;Repeat=.;avsnp150=rs11265366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5951;1000g2015aug_all=0.670327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,30:53:99:821,0,597 1 160247185 rs10594 G C 446.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.258;DP=62;ExcessHet=3.0103;FS=1.02;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.729;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX19;Func=UTR3;Gene=NM_001193644,NM_002857;GeneDetail=NM_001193644:c.*2164C>G\x3bNM_002857:c.*2156C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368072.9,ENST00000556710.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e882\x3bName\x3e"281663:Charlie10(DNA)";avsnp150=rs10594;cosmic70=.;CLNALLELEID=277712;CLNDN=Zellweger_syndrome;CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.5245;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=0.5641;ExAC_AFR=0.4368;ExAC_AMR=0.5326;ExAC_EAS=0.3030;ExAC_FIN=.;ExAC_NFE=0.4481;ExAC_OTH=0.5254;ExAC_SAS=0.6152;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,21:62:99:475,0,1086 1 160251792 rs2795067 A G 805.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.071;DP=50;ExcessHet=3.0103;FS=1.161;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-1.052;SOR=1.01;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePEX19;Func=intronic;Gene=NM_001193644,NM_002857;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368072.9,ENST00000556710.5;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2795067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5951;1000g2015aug_all=0.670327;esp6500siv2_all=0.6555;ExAC_ALL=0.5955;ExAC_AFR=0.8681;ExAC_AMR=0.5643;ExAC_EAS=0.4852;ExAC_FIN=0.5370;ExAC_NFE=0.5499;ExAC_OTH=0.5871;ExAC_SAS=0.7085;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,32:50:99:834,0,400 1 160260233 rs2298104 T C 701.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.142;DP=55;ExcessHet=3.0103;FS=6.042;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.611;SOR=0.233;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368069.7,ENST00000241704.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.635;1000g2015aug_eur=0.5089;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.5187;1000g2015aug_all=0.422524;esp6500siv2_all=0.4186;ExAC_ALL=0.4793;ExAC_AFR=0.2534;ExAC_AMR=0.4870;ExAC_EAS=0.3690;ExAC_FIN=0.4921;ExAC_NFE=0.4950;ExAC_OTH=0.4854;ExAC_SAS=0.6154;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,24:55:99:730,0,980 1 160262678 rs2369474 T C 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.434;DP=12;ExcessHet=3.0103;FS=8.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.108;SOR=0.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368069.7,ENST00000241704.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2369474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5965;1000g2015aug_all=0.669129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:136,0,256 1 160263124 rs1317944 C T 738.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.095;DP=81;ExcessHet=3.0103;FS=5.809;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.938;SOR=1.171;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241704.7,ENST00000368069.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1317944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5965;1000g2015aug_all=0.669129;esp6500siv2_all=0.6447;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,31:81:99:767,0,1402 1 160265515 rs3789042 T C 996.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.006;DP=61;ExcessHet=3.0103;FS=7.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.427;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241704.7,ENST00000368069.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.635;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.5245;1000g2015aug_all=0.453075;esp6500siv2_all=0.4531;ExAC_ALL=0.4926;ExAC_AFR=0.3608;ExAC_AMR=0.4907;ExAC_EAS=0.3690;ExAC_FIN=0.4912;ExAC_NFE=0.4972;ExAC_OTH=0.4989;ExAC_SAS=0.6371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,33:61:99:1025,0,886 1 160275434 rs2066320 A G 2112.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.82;DP=216;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-1.109;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241704.7,ENST00000368069.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.9493;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9856;1000g2015aug_all=0.978035;esp6500siv2_all=0.9632;ExAC_ALL=0.9610;ExAC_AFR=0.9893;ExAC_AMR=0.9863;ExAC_EAS=0.9988;ExAC_FIN=0.9692;ExAC_NFE=0.9502;ExAC_OTH=0.9559;ExAC_SAS=0.9462;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:117,98:215:99:2141,0,2923 1 160302444 rs4656897 G A 175.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.28;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.063;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368069.7,ENST00000241704.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.5937;1000g2015aug_all=0.668331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:204,0,216 1 160303416 rs1802778 G A 960.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.275;DP=97;ExcessHet=3.0103;FS=1.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.557;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=exonic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COPA:NM_001098398:exon5:c.C363T:p.N121N,COPA:NM_004371:exon5:c.C363T:p.N121N;Gencode=Name\x3eENST00000368069.7,ENST00000241704.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1802778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.7229;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.91;1000g2015aug_amr=0.5922;1000g2015aug_all=0.66274;esp6500siv2_all=0.6447;ExAC_ALL=0.5788;ExAC_AFR=0.8652;ExAC_AMR=0.5524;ExAC_EAS=0.4686;ExAC_FIN=0.5255;ExAC_NFE=0.5297;ExAC_OTH=0.5695;ExAC_SAS=0.6942;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,40:97:99:989,0,1662 1 160309664 rs1886419 T G 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.321;DP=26;ExcessHet=3.0103;FS=1.796;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.512;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOPA;Func=intronic;Gene=NM_001098398,NM_004371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368069.7,ENST00000241704.7;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.5951;1000g2015aug_all=0.667332;esp6500siv2_all=0.6553;ExAC_ALL=0.5899;ExAC_AFR=0.8685;ExAC_AMR=0.5577;ExAC_EAS=0.4696;ExAC_FIN=0.5277;ExAC_NFE=0.5451;ExAC_OTH=0.5771;ExAC_SAS=0.7064;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,17:26:99:515,0,196 1 160313733 rs1886417 C A 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.759;DP=73;ExcessHet=3.0103;FS=0.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.297;SOR=0.831;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCSTN;Func=intronic;Gene=NM_001290184,NM_001290186,NM_001349729,NM_015331;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368063.5,ENST00000294785.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.638;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.5173;1000g2015aug_all=0.422923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,30:72:99:611,0,1052 1 160318940 rs6669689 A G 595.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.782;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.229;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCSTN;Func=intronic;Gene=NM_001290184,NM_001290186,NM_001349729,NM_015331;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368063.5,ENST00000294785.9;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.5938;1000g2015aug_amr=0.4899;1000g2015aug_all=0.558906;esp6500siv2_all=0.5250;ExAC_ALL=0.5276;ExAC_AFR=0.5784;ExAC_AMR=0.5008;ExAC_EAS=0.4929;ExAC_FIN=0.5132;ExAC_NFE=0.5053;ExAC_OTH=0.5265;ExAC_SAS=0.6277;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,25:71:99:624,0,1163 1 160386082 rs17371401 A G 433.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.104;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.1;ReadPosRankSum=0.159;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=intronic;Gene=NM_020335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17371401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.2075;1000g2015aug_all=0.208466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,14:18:99:462,0,111 1 160389984 rs3737798 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=intronic;Gene=NM_020335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.451;1000g2015aug_all=0.592851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 160393905 rs12086448 A G 1407.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.46;DP=114;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.616;SOR=0.683;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=exonic;Gene=NM_020335;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VANGL2:NM_020335:exon7:c.A1137G:p.K379K;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12086448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.497;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.4524;1000g2015aug_all=0.576677;esp6500siv2_all=0.6087;ExAC_ALL=0.5214;ExAC_AFR=0.7655;ExAC_AMR=0.3629;ExAC_EAS=0.3691;ExAC_FIN=0.4873;ExAC_NFE=0.5115;ExAC_OTH=0.5055;ExAC_SAS=0.6126;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,54:114:99:1436,0,1667 1 160394173 rs12087593 A G 517.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.666;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-2.271;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=intronic;Gene=NM_020335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12087593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0853;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.2305;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,21:55:99:546,0,1035 1 160394937 rs17380127 A C 1273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.593;DP=119;ExcessHet=3.0103;FS=2.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.454;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=exonic;Gene=NM_020335;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VANGL2:NM_020335:exon8:c.A1335C:p.G445G;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17380127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.2075;1000g2015aug_all=0.207468;esp6500siv2_all=0.2511;ExAC_ALL=0.2513;ExAC_AFR=0.1662;ExAC_AMR=0.1991;ExAC_EAS=0.1007;ExAC_FIN=0.2383;ExAC_NFE=0.2837;ExAC_OTH=0.2676;ExAC_SAS=0.2939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,49:119:99:1302,0,1951 1 160395003 rs17380141 G A 1053.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.617;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.945;SOR=0.645;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVANGL2;Func=exonic;Gene=NM_020335;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=VANGL2:NM_020335:exon8:c.G1401A:p.P467P;Gencode=Name\x3eENST00000368061.2;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17380141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.219;1000g2015aug_all=0.227037;esp6500siv2_all=0.2738;ExAC_ALL=0.2574;ExAC_AFR=0.2322;ExAC_AMR=0.2025;ExAC_EAS=0.1009;ExAC_FIN=0.2379;ExAC_NFE=0.2838;ExAC_OTH=0.2709;ExAC_SAS=0.2941;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,40:94:99:1082,0,1625 1 160458610 rs1041068 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.93;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF6;Func=intronic;Gene=NM_001184714,NM_001184715,NM_001184716,NM_052931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368057.7,ENST00000368059.7,ENST00000368055.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1041068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.6182;1000g2015aug_all=0.694289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,173 1 160458782 rs3795327 A G 817.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.048;DP=69;ExcessHet=3.0103;FS=0.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.683;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF6;Func=intronic;Gene=NM_001184714,NM_001184715,NM_001184716,NM_052931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368057.7,ENST00000368059.7,ENST00000368055.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795327;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.6052;1000g2015aug_all=0.615815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,33:69:99:846,0,956 1 160461499 rs1249550 C T 304.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-2.208;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF6;Func=intronic;Gene=NM_001184714,NM_001184715,NM_001184716,NM_052931;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368057.7,ENST00000368059.7,ENST00000368055.1;cytoBand=1q23.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1249550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.6929;1000g2015aug_amr=0.6225;1000g2015aug_all=0.69369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:89:333,0,89 1 160499850 rs11265424 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052931,NM_001184879;GeneDetail=dist\x3e6798\x3bdist\x3e11034;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21748\x3bName\x3e"282108:L1PA7(LINE)";avsnp150=rs11265424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.337;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.2882;1000g2015aug_all=0.301318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 160517692 rs1055880 C T 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD84;Func=UTR3;Gene=NM_001184879,NM_001184881,NM_001184882,NM_001330742,NM_003874;GeneDetail=NM_001184879:c.*354G>A\x3bNM_001184881:c.*424G>A\x3bNM_001184882:c.*354G>A\x3bNM_001330742:c.*354G>A\x3bNM_003874:c.*354G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446952.1,ENST00000534968.5,ENST00000368054.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e590\x3bName\x3e"282144:Charlie17a(DNA)";avsnp150=rs1055880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2093;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.2723;1000g2015aug_all=0.274561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:176,0,62 1 160519480 rs3766384 G C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.041;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD84;Func=intronic;Gene=NM_001184879,NM_001184881,NM_001184882,NM_001330742,NM_003874;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311224.8,ENST00000446952.1,ENST00000368051.3,ENST00000368048.7,ENST00000368054.7,ENST00000534968.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.182;1000g2015aug_eur=0.34;1000g2015aug_afr=0.441;1000g2015aug_amr=0.2853;1000g2015aug_all=0.301717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,302 1 160548880 rs1466933 T G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD84;Func=intronic;Gene=NM_001184879,NM_001184881,NM_001184882,NM_001330742,NM_003874;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000311224.8,ENST00000534968.5,ENST00000368054.7,ENST00000368051.3,ENST00000368048.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1466933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.9225;1000g2015aug_afr=0.674;1000g2015aug_amr=0.7666;1000g2015aug_all=0.79393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 160580015 rs1061217 A G 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.533;DP=31;ExcessHet=3.0103;FS=1.758;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.28;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=UTR3;Gene=NM_001330754,NM_003037;GeneDetail=NM_001330754:c.*540T>C\x3bNM_003037:c.*523T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235739.6,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.4669;1000g2015aug_all=0.469449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:370,0,522 1 160580549 rs3796504 G T 1821.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.462;DP=142;ExcessHet=3.0103;FS=4.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.462;SOR=1.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=exonic;Gene=NM_003037;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLAMF1:NM_003037:exon7:c.C997A:p.P333T;Gencode=Name\x3eENST00000235739.6,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3796504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0395367;esp6500siv2_all=0.0647;ExAC_ALL=0.0719;ExAC_AFR=0.0140;ExAC_AMR=0.0380;ExAC_EAS=0.0010;ExAC_FIN=0.0655;ExAC_NFE=0.1003;ExAC_OTH=0.0760;ExAC_SAS=0.0571;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.386;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=2.38;FATHMM_pred=T;phyloP100way_vertebrate=3.692;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=12.092;gerp++gt2=4.08;CADD=5.825;CADD_Phred=27.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,73:141:99:1850,0,1859 1 160580807 rs349251 T C 718.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=intronic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538290.2,ENST00000235739.6,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs349251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.7867;1000g2015aug_all=0.840455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:747,54,0 1 160582549 rs1809963 C G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=1.036;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=intronic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302035.10,ENST00000235739.6,ENST00000538290.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e347\x3bName\x3e"282252:L3(LINE)";avsnp150=rs1809963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.138;1000g2015aug_eur=0.3022;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.1801;1000g2015aug_all=0.155551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 160585554 rs149160 C G 1778.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=intronic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235739.6,ENST00000538290.2,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1348\x3bName\x3e"282261:MLT1C(LTR)";avsnp150=rs149160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9971;1000g2015aug_all=0.985024;esp6500siv2_all=.;ExAC_ALL=0.9982;ExAC_AFR=0.9694;ExAC_AMR=0.9954;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1807,159,0 1 160585706 rs151607 C T 474.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.154;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.03;SOR=0.576;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=intronic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000302035.10,ENST00000235739.6,ENST00000538290.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1348\x3bName\x3e"282261:MLT1C(LTR)";avsnp150=rs151607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.8112;1000g2015aug_all=0.815495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:503,0,569 1 160604172 rs164287 T G 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=intronic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538290.2,ENST00000235739.6,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9614;1000g2015aug_amr=0.9971;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 160616703 rs2295612 G T 787.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.304;DP=114;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-1.404;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF1;Func=exonic;Gene=NM_001330754,NM_003037;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLAMF1:NM_001330754:exon1:c.C33A:p.F11L,SLAMF1:NM_003037:exon1:c.C33A:p.F11L;Gencode=Name\x3eENST00000235739.6,ENST00000538290.2,ENST00000302035.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.09;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.2075;1000g2015aug_all=0.0984425;esp6500siv2_all=0.1465;ExAC_ALL=0.1684;ExAC_AFR=0.0363;ExAC_AMR=0.2943;ExAC_EAS=0.0507;ExAC_FIN=0.1504;ExAC_NFE=0.1952;ExAC_OTH=0.1513;ExAC_SAS=0.1224;SIFT_score=0.668;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.120;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.115;MutationAssessor_pred=N;FATHMM_score=1.09;FATHMM_pred=T;phyloP100way_vertebrate=-0.144;phyloP20way_mammalian=-0.325;SiPhy_29way_logOdds=5.322;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:78,35:113:99:816,0,2188 1 160648549 rs1126644 C T 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD48;Func=UTR3;Gene=NM_001778;GeneDetail=NM_001778:c.*293G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368046.7,ENST00000588034.5,ENST00000598917.6,ENST00000443928.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1126644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.7853;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.7522;1000g2015aug_all=0.745407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 160650913 rs4656926 A G 1929.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=2.345;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD48;Func=exonic;Gene=NM_001256030;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD48:NM_001256030:exon3:c.T731C:p.I244T;Gencode=Name\x3eENST00000613788.1,ENST00000588034.5,ENST00000368046.7,ENST00000443928.6,ENST00000598917.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.3767;1000g2015aug_amr=0.9539;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=0.9621;ExAC_AFR=0.5330;ExAC_AMR=0.9778;ExAC_EAS=0.9996;ExAC_FIN=0.9998;ExAC_NFE=0.9974;ExAC_OTH=0.9755;ExAC_SAS=0.9982;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.179;phyloP20way_mammalian=-1.964;SiPhy_29way_logOdds=9.499;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1958,165,0 1 160650938 rs6667145 C T 1061.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.157;DP=70;ExcessHet=3.0103;FS=2.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.557;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD48;Func=exonic;Gene=NM_001256030;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD48:NM_001256030:exon3:c.G706A:p.E236K;Gencode=Name\x3eENST00000368046.7,ENST00000588034.5,ENST00000613788.1,ENST00000598917.6,ENST00000443928.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.0879;1000g2015aug_all=0.0794728;esp6500siv2_all=.;ExAC_ALL=0.0985;ExAC_AFR=0.0845;ExAC_AMR=0.0574;ExAC_EAS=0.0033;ExAC_FIN=0.0977;ExAC_NFE=0.1169;ExAC_OTH=0.1116;ExAC_SAS=0.1097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.122;phyloP20way_mammalian=-0.336;SiPhy_29way_logOdds=4.245;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,38:70:99:1090,0,873 1 160681775 rs352684 A G 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.118;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-1.531;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001256030,NM_001778;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs352684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.5403;1000g2015aug_all=0.6875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:249,0,291 1 160717741 rs17313062 A G 498.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.911;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=1.292;SOR=0.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF7;Func=intronic;Gene=NM_001282588,NM_001282589,NM_001282590,NM_001282591,NM_001282592,NM_001282593,NM_001282594,NM_001282595,NM_001282596,NM_021181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368043.7,ENST00000621377.4,ENST00000458104.6,ENST00000368042.7,ENST00000359331.8,ENST00000444090.6,ENST00000441662.6,ENST00000458602.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17313062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.1254;1000g2015aug_all=0.15595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,16:35:99:527,0,688 1 160717872 rs527733 T G 3386.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=0.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF7;Func=intronic;Gene=NM_001282588,NM_001282589,NM_001282590,NM_001282591,NM_001282592,NM_001282593,NM_001282594,NM_001282595,NM_001282596,NM_021181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444090.6,ENST00000441662.6,ENST00000359331.8,ENST00000458602.6,ENST00000368042.7,ENST00000458104.6,ENST00000368043.7,ENST00000621377.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,101:101:99:3415,303,0 1 160722064 rs527342 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLAMF7;Func=intronic;Gene=NM_001282588,NM_001282589,NM_001282590,NM_001282591,NM_001282592,NM_001282593,NM_001282594,NM_001282595,NM_001282596,NM_021181;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368042.7,ENST00000458104.6,ENST00000621377.4,ENST00000368043.7,ENST00000458602.6,ENST00000441662.6,ENST00000444090.6,ENST00000359331.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.964;1000g2015aug_all=0.908746;esp6500siv2_all=0.9175;ExAC_ALL=0.9554;ExAC_AFR=0.7932;ExAC_AMR=0.9772;ExAC_EAS=0.9722;ExAC_FIN=0.9745;ExAC_NFE=0.9750;ExAC_OTH=0.9484;ExAC_SAS=0.9459;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 160771761 rs1556517 C A 608.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.347;DP=58;ExcessHet=3.0103;FS=3.717;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.881;SOR=0.318;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=UTR3;Gene=NM_001033667;GeneDetail=NM_001033667:c.*54C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368037.9,ENST00000392203.8,ENST00000263285.10,ENST00000368039.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.3876;1000g2015aug_all=0.211462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,27:58:99:637,0,746 1 160787705 rs2271967 T C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.204;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368037.9,ENST00000392203.8,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e215\x3bName\x3e"282634:MIRb(SINE)";avsnp150=rs2271967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.0431;1000g2015aug_amr=0.3919;1000g2015aug_all=0.23762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 160788131 rs3817407 T C 704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.28;DP=75;ExcessHet=3.0103;FS=0.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.571;SOR=0.558;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392203.8,ENST00000368037.9,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3817407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3373;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.4352;1000g2015aug_all=0.35643;esp6500siv2_all=0.2683;ExAC_ALL=0.2956;ExAC_AFR=0.3866;ExAC_AMR=0.5266;ExAC_EAS=0.3751;ExAC_FIN=0.2843;ExAC_NFE=0.2256;ExAC_OTH=0.2639;ExAC_SAS=0.3240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,29:75:99:733,0,1317 1 160788270 rs508166 C T 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.45;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263285.10,ENST00000392203.8,ENST00000368037.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e376\x3bName\x3e"282636:MLT1K(LTR)";avsnp150=rs508166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=1;1000g2015aug_all=0.992812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 160789196 rs537540 A C 1620.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263285.10,ENST00000368037.9,ENST00000392203.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs537540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=1;1000g2015aug_all=0.992412;esp6500siv2_all=0.9908;ExAC_ALL=0.9975;ExAC_AFR=0.9729;ExAC_AMR=0.9986;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1649,156,0 1 160793442 rs474131 A G 2287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.227;DP=179;ExcessHet=3.0103;FS=4.294;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.414;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=exonic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LY9:NM_001261457:exon7:c.A1416G:p.V472V,LY9:NM_001261456:exon8:c.A1644G:p.V548V,LY9:NM_002348:exon8:c.A1686G:p.V562V;Gencode=Name\x3eENST00000392203.8,ENST00000368037.9,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs474131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.6643;1000g2015aug_all=0.632188;esp6500siv2_all=0.4944;ExAC_ALL=0.5295;ExAC_AFR=0.6520;ExAC_AMR=0.7373;ExAC_EAS=0.7304;ExAC_FIN=0.4815;ExAC_NFE=0.4365;ExAC_OTH=0.4879;ExAC_SAS=0.5988;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:95,83:178:99:2316,0,2726 1 160793560 rs509749 A G 1565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.349;DP=153;ExcessHet=3.0103;FS=6.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.633;SOR=0.355;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=exonic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LY9:NM_001261457:exon7:c.A1534G:p.M512V,LY9:NM_001261456:exon8:c.A1762G:p.M588V,LY9:NM_002348:exon8:c.A1804G:p.M602V;Gencode=Name\x3eENST00000263285.10,ENST00000368037.9,ENST00000392203.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs509749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.6686;1000g2015aug_all=0.660144;esp6500siv2_all=0.5279;ExAC_ALL=0.5388;ExAC_AFR=0.7499;ExAC_AMR=0.7411;ExAC_EAS=0.7304;ExAC_FIN=0.4814;ExAC_NFE=0.4370;ExAC_OTH=0.4945;ExAC_SAS=0.6004;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.030;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.805;MutationAssessor_pred=N;FATHMM_score=1.57;FATHMM_pred=T;phyloP100way_vertebrate=-0.201;phyloP20way_mammalian=-1.075;SiPhy_29way_logOdds=8.371;gerp++gt2=2.28;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,67:153:99:1594,0,2469 1 160793962 rs506081 G C 1048.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.891;DP=80;ExcessHet=3.0103;FS=1.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.665;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392203.8,ENST00000368037.9,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs506081;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.6643;1000g2015aug_all=0.635982;esp6500siv2_all=0.5008;ExAC_ALL=0.5310;ExAC_AFR=0.6710;ExAC_AMR=0.7383;ExAC_EAS=0.7294;ExAC_FIN=0.4813;ExAC_NFE=0.4363;ExAC_OTH=0.4890;ExAC_SAS=0.5990;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,43:80:99:1077,0,1101 1 160797514 rs576334 C G 725.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.642;DP=55;ExcessHet=3.0103;FS=1.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=1.057;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=intronic;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392203.8,ENST00000368037.9,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs576334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.6641;1000g2015aug_amr=0.6628;1000g2015aug_all=0.629393;esp6500siv2_all=0.5047;ExAC_ALL=0.5477;ExAC_AFR=0.6332;ExAC_AMR=0.7452;ExAC_EAS=0.7282;ExAC_FIN=0.5070;ExAC_NFE=0.4614;ExAC_OTH=0.5267;ExAC_SAS=0.6292;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,32:54:99:754,0,552 1 160797684 rs574610 A G 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=-1.158;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLY9;Func=UTR3;Gene=NM_001261456,NM_001261457,NM_002348;GeneDetail=NM_001261456:c.*78A>G\x3bNM_001261457:c.*78A>G\x3bNM_002348:c.*78A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392203.8,ENST00000368037.9,ENST00000263285.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e188\x3bName\x3e"282657:OldhAT1(DNA)";avsnp150=rs574610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.5613;1000g2015aug_amr=0.6571;1000g2015aug_all=0.601438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:215,0,176 1 160803802 rs11265493 A G 721.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.138;DP=42;ExcessHet=3.0103;FS=2.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.814;SOR=0.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD244;Func=intronic;Gene=NM_001166663,NM_001166664,NM_016382;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368034.8,ENST00000368033.7,ENST00000322302.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11265493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.598;1000g2015aug_all=0.503195;esp6500siv2_all=0.5314;ExAC_ALL=0.5865;ExAC_AFR=0.3700;ExAC_AMR=0.6845;ExAC_EAS=0.5020;ExAC_FIN=0.5975;ExAC_NFE=0.6092;ExAC_OTH=0.6035;ExAC_SAS=0.6012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,26:42:99:750,0,439 1 160808476 rs1319651 C G 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD244;Func=intronic;Gene=NM_001166663,NM_001166664,NM_016382;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368033.7,ENST00000322302.7,ENST00000368034.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1319651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.5836;1000g2015aug_all=0.434305;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 160809003 rs6682654 G A 328.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.416;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD244;Func=intronic;Gene=NM_001166663,NM_001166664,NM_016382;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368034.8,ENST00000322302.7,ENST00000368033.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4117;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.5749;1000g2015aug_all=0.403754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:357,0,357 1 160811830 rs2990703 A G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD244;Func=intronic;Gene=NM_001166663,NM_001166664,NM_016382;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000322302.7,ENST00000368033.7,ENST00000368034.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2990703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.7776;1000g2015aug_amr=0.4193;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 160848993 rs3766357 G A 187.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"282766:(CA)n(Simple_repeat)";avsnp150=rs3766357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.6974;1000g2015aug_all=0.563698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:216,18,0 1 160849030 rs3766358 T A 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"282766:(CA)n(Simple_repeat)";avsnp150=rs3766358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.3154;1000g2015aug_amr=0.7003;1000g2015aug_all=0.578674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 160849060 rs3766359 G A 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e19\x3bName\x3e"282767:(TCACAC)n(Simple_repeat)";avsnp150=rs3766359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.696;1000g2015aug_all=0.563299;esp6500siv2_all=0.5587;ExAC_ALL=0.6431;ExAC_AFR=0.3121;ExAC_AMR=0.7304;ExAC_EAS=0.6867;ExAC_FIN=0.6845;ExAC_NFE=0.6725;ExAC_OTH=0.6711;ExAC_SAS=0.6307;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 160849082 rs3820094 A G 859.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.475;1000g2015aug_amr=0.719;1000g2015aug_all=0.638778;esp6500siv2_all=0.6239;ExAC_ALL=0.6710;ExAC_AFR=0.5015;ExAC_AMR=0.7408;ExAC_EAS=0.6866;ExAC_FIN=0.6844;ExAC_NFE=0.6783;ExAC_OTH=0.6927;ExAC_SAS=0.6847;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:888,63,0 1 160849367 rs2274905 G T 567.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.6974;1000g2015aug_all=0.563498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:596,51,0 1 160849420 rs2274906 G A 243.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.09;ReadPosRankSum=0.967;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.4957;1000g2015aug_all=0.312101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:37:272,0,37 1 160850280 rs4656957 G A 1387.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=2.191;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.5802;1000g2015aug_amr=0.7248;1000g2015aug_all=0.667332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1416,120,0 1 160850936 rs2236515 T C 4128.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.5968;1000g2015aug_amr=0.7277;1000g2015aug_all=0.672324;esp6500siv2_all=0.6612;ExAC_ALL=0.6830;ExAC_AFR=0.6078;ExAC_AMR=0.7442;ExAC_EAS=0.6881;ExAC_FIN=0.6848;ExAC_NFE=0.6787;ExAC_OTH=0.7009;ExAC_SAS=0.7027;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4157,390,0 1 160851534 rs7532133 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2143\x3bName\x3e"282770:AluSx1(SINE)";avsnp150=rs7532133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.2753;1000g2015aug_amr=0.6931;1000g2015aug_all=0.561901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 160851564 rs6427551 C G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2143\x3bName\x3e"282770:AluSx1(SINE)";avsnp150=rs6427551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6974;1000g2015aug_all=0.582069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 160851619 rs10908808 A G 1086.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=3.69;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10908808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.696;1000g2015aug_all=0.581669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1115,81,0 1 160851826 rs2274907 A T 3530.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=0.987;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=exonic;Gene=NM_017625;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ITLN1:NM_017625:exon4:c.T326A:p.V109D;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.696;1000g2015aug_all=0.58127;esp6500siv2_all=0.5785;ExAC_ALL=0.6487;ExAC_AFR=0.3742;ExAC_AMR=0.7322;ExAC_EAS=0.6884;ExAC_FIN=0.6846;ExAC_NFE=0.6725;ExAC_OTH=0.6751;ExAC_SAS=0.6305;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=0.975;MutationTaster_pred=P;MutationAssessor_score=-3.13;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;phyloP100way_vertebrate=1.555;phyloP20way_mammalian=0.089;SiPhy_29way_logOdds=8.262;gerp++gt2=4.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3559,318,0 1 160851894 rs2274908 G A 3771.77 PASS AC=2;AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=exonic;Gene=NM_017625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ITLN1:NM_017625:exon4:c.C258T:p.H86H;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6944;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.6945;1000g2015aug_all=0.577875;esp6500siv2_all=0.5753;ExAC_ALL=0.6475;ExAC_AFR=0.3652;ExAC_AMR=0.7315;ExAC_EAS=0.6883;ExAC_FIN=0.6848;ExAC_NFE=0.6714;ExAC_OTH=0.6729;ExAC_SAS=0.6324;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,111:111:99:3800,333,0 1 160852022 rs2274909 C T 5339.77 PASS AC=2;AF=1;AN=2;DP=165;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=0.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.6931;1000g2015aug_all=0.567492;esp6500siv2_all=0.5647;ExAC_ALL=0.6441;ExAC_AFR=0.3323;ExAC_AMR=0.7304;ExAC_EAS=0.6873;ExAC_FIN=0.6847;ExAC_NFE=0.6704;ExAC_OTH=0.6739;ExAC_SAS=0.6225;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,165:165:99:5368,495,0 1 160852046 rs2274910 T C 5012.77 PASS AC=2;AF=1;AN=2;DP=161;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=0.955;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eCrohn's_disease;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.6931;1000g2015aug_all=0.567492;esp6500siv2_all=0.5622;ExAC_ALL=0.6442;ExAC_AFR=0.3314;ExAC_AMR=0.7303;ExAC_EAS=0.6866;ExAC_FIN=0.6837;ExAC_NFE=0.6701;ExAC_OTH=0.6727;ExAC_SAS=0.6230;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,161:161:99:5041,482,0 1 160852167 rs6427552 C T 1666.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.62;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.7118;1000g2015aug_all=0.629992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1695,126,0 1 160854445 rs2039415 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2039415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.7262;1000g2015aug_all=0.667931;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 160854526 rs2297559 G A 760.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN1;Func=intronic;Gene=NM_017625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000326245.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.5492;1000g2015aug_amr=0.7277;1000g2015aug_all=0.669728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:789,60,0 1 160875756 rs2225591 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017625,NR_110695;GeneDetail=dist\x3e20796\x3bdist\x3e26499;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2225591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.664;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.7032;1000g2015aug_all=0.606829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 160899783 rs11587040 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_017625,NR_110695;GeneDetail=dist\x3e44823\x3bdist\x3e2472;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1127\x3bName\x3e"282868:L2a(LINE)";avsnp150=rs11587040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.773;1000g2015aug_eur=0.671;1000g2015aug_afr=0.618;1000g2015aug_amr=0.7262;1000g2015aug_all=0.70028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 160905683 rs80093686 C T 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928372;Func=ncRNA_intronic;Gene=NR_110695;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356006.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80093686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0169;1000g2015aug_afr=.;1000g2015aug_amr=0.013;1000g2015aug_all=0.00559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,154 1 160917902 rs1556519 T C 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.022;DP=35;ExcessHet=3.0103;FS=3.647;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.573;SOR=0.194;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2,LOC101928372;Func=ncRNA_intronic;Gene=NR_110695;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3,ENST00000356006.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.319;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.389;1000g2015aug_all=0.242812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:310,0,564 1 160920171 rs78108520 T C 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.891;DP=23;ExcessHet=3.0103;FS=2.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=1.008;SOR=1.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78108520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:307,0,500 1 160920809 rs3829790 A G 2938.77 PASS AC=2;AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.06;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3829790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.6239;1000g2015aug_all=0.480431;esp6500siv2_all=0.4709;ExAC_ALL=0.5377;ExAC_AFR=0.2864;ExAC_AMR=0.6610;ExAC_EAS=0.5529;ExAC_FIN=0.6232;ExAC_NFE=0.5532;ExAC_OTH=0.5793;ExAC_SAS=0.5026;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2967,199,0 1 160920813 rs790059 A G 3009.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.999002;esp6500siv2_all=0.9954;ExAC_ALL=0.9959;ExAC_AFR=0.9988;ExAC_AMR=0.9989;ExAC_EAS=1;ExAC_FIN=0.9964;ExAC_NFE=0.9939;ExAC_OTH=0.9989;ExAC_SAS=0.9978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:3038,205,0 1 160920966 rs6680969 C T 3384.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=1.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=exonic;Gene=NM_080878;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ITLN2:NM_080878:exon4:c.G308A:p.R103H;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.6066;1000g2015aug_all=0.488219;esp6500siv2_all=0.4909;ExAC_ALL=0.5356;ExAC_AFR=0.3443;ExAC_AMR=0.6322;ExAC_EAS=0.5507;ExAC_FIN=0.6236;ExAC_NFE=0.5531;ExAC_OTH=0.5806;ExAC_SAS=0.4723;SIFT_score=0.5;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.32;MutationAssessor_pred=N;FATHMM_score=1.55;FATHMM_pred=T;phyloP100way_vertebrate=-4.648;phyloP20way_mammalian=-6.343;SiPhy_29way_logOdds=5.206;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3413,293,0 1 160921230 rs4656971 T G 1888.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.93;SOR=4.362;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e677\x3bName\x3e"282907:LTR40b(LTR)";avsnp150=rs4656971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.6254;1000g2015aug_all=0.479433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1917,141,0 1 160921360 rs4656972 G C 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.239;1000g2015aug_amr=0.6066;1000g2015aug_all=0.475639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 160922195 rs2252389 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2252389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.8689;1000g2015aug_all=0.834065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 160922751 rs4596920 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"282911:L2c(LINE)";avsnp150=rs4596920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.339;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.4035;1000g2015aug_all=0.26897;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 160924426 rs12401642 G A 532.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.326;DP=45;ExcessHet=3.0103;FS=2.65;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.61;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITLN2;Func=intronic;Gene=NM_080878;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368029.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.182;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.1715;1000g2015aug_all=0.123802;esp6500siv2_all=0.0692;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,19:45:99:561,0,666 1 160934367 rs28776781 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e9778\x3bdist\x3e30629;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2160\x3bName\x3e"282950:AluSg7(SINE)";avsnp150=rs28776781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2839;1000g2015aug_all=0.184704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 160934391 rs11800456 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e9802\x3bdist\x3e30605;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2416\x3bName\x3e"282951:AluSx4(SINE)";avsnp150=rs11800456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2839;1000g2015aug_all=0.184704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 160934424 rs11800797 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e9835\x3bdist\x3e30572;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2416\x3bName\x3e"282951:AluSx4(SINE)";avsnp150=rs11800797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.2839;1000g2015aug_all=0.184704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 160945903 rs2265239 A G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.82;QD=31.18;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e21314\x3bdist\x3e19093;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2373\x3bName\x3e"283001:AluSp(SINE)";avsnp150=rs2265239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.7925;1000g2015aug_all=0.825879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 160945959 rs61802230 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.82;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e21370\x3bdist\x3e19037;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2373\x3bName\x3e"283001:AluSp(SINE)";avsnp150=rs61802230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.176717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 160945996 rs2990694 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.9;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e21407\x3bdist\x3e19000;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2373\x3bName\x3e"283001:AluSp(SINE)";avsnp150=rs2990694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.7925;1000g2015aug_all=0.83127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 160946078 rs2265240 C T 62.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_080878,NM_001348091;GeneDetail=dist\x3e21489\x3bdist\x3e18918;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3255\x3bName\x3e"283002:LTR9D(LTR)";avsnp150=rs2265240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.7577;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.7896;1000g2015aug_all=0.817891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:90,9,0 1 160968609 rs41269993 G A 1110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.428;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.377;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=UTR3;Gene=NM_001348091,NM_016946;GeneDetail=NM_001348091:c.*52C>T\x3bNM_016946:c.*52C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368026.10,ENST00000537746.1,ENST00000289779.7,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2723;1000g2015aug_all=0.17492;esp6500siv2_all=0.2160;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,40:75:99:1139,0,994 1 160969110 rs2297222 T C 851.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.476;DP=119;ExcessHet=3.0103;FS=1.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=0.095;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000289779.7,ENST00000368026.10,ENST00000537746.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.178514;esp6500siv2_all=0.2249;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,37:119:99:880,0,2436 1 160969585 rs790056 C T 3449.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368026.10,ENST00000537746.1,ENST00000289779.7,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.8069;1000g2015aug_all=0.841054;esp6500siv2_all=0.8308;ExAC_ALL=0.8114;ExAC_AFR=0.9093;ExAC_AMR=0.8321;ExAC_EAS=0.8570;ExAC_FIN=0.7749;ExAC_NFE=0.7926;ExAC_OTH=0.8124;ExAC_SAS=0.8017;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3478,318,0 1 160969930 rs869985 A C 1139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.989;DP=99;ExcessHet=3.0103;FS=1.636;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.972;SOR=0.899;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000289779.7,ENST00000537746.1,ENST00000368026.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs869985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.178514;esp6500siv2_all=0.2145;ExAC_ALL=0.2454;ExAC_AFR=0.0779;ExAC_AMR=0.2692;ExAC_EAS=0.1884;ExAC_FIN=0.3464;ExAC_NFE=0.2921;ExAC_OTH=0.2682;ExAC_SAS=0.1339;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,46:98:99:1168,0,1627 1 160970968 rs2297221 G A 667.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.486;DP=58;ExcessHet=3.0103;FS=4.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.043;SOR=1.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289779.7,ENST00000368026.10,ENST00000537746.1,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.178514;esp6500siv2_all=0.2145;ExAC_ALL=0.2456;ExAC_AFR=0.0784;ExAC_AMR=0.2694;ExAC_EAS=0.1878;ExAC_FIN=0.3472;ExAC_NFE=0.2924;ExAC_OTH=0.2677;ExAC_SAS=0.1341;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,24:57:99:696,0,1071 1 160971015 rs2297220 G C 456.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.239;DP=48;ExcessHet=3.0103;FS=4.494;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.171;SOR=0.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368026.10,ENST00000537746.1,ENST00000289779.7,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.178514;esp6500siv2_all=0.2245;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,15:47:99:485,0,1129 1 160971146 rs790055 A G 4062.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.43;SOR=0.808;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000537746.1,ENST00000368026.10,ENST00000289779.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.804;1000g2015aug_all=0.829872;esp6500siv2_all=0.8224;ExAC_ALL=0.8049;ExAC_AFR=0.8857;ExAC_AMR=0.8312;ExAC_EAS=0.8582;ExAC_FIN=0.7737;ExAC_NFE=0.7918;ExAC_OTH=0.8046;ExAC_SAS=0.7731;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,108:108:99:4091,325,0 1 160971155 rs2297219 G C 1006.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.268;DP=111;ExcessHet=3.0103;FS=0.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.096;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000368026.10,ENST00000537746.1,ENST00000289779.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2752;1000g2015aug_all=0.178315;esp6500siv2_all=0.2141;ExAC_ALL=0.2465;ExAC_AFR=0.0782;ExAC_AMR=0.2720;ExAC_EAS=0.1878;ExAC_FIN=0.3474;ExAC_NFE=0.2932;ExAC_OTH=0.2717;ExAC_SAS=0.1346;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,45:111:99:1035,0,1810 1 160988944 rs12401336 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=intronic;Gene=NM_001348091,NM_016946;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000537746.1,ENST00000368026.10,ENST00000289779.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.268;1000g2015aug_all=0.172324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 160990875 rs28365980 T C 2216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.85;DP=151;ExcessHet=3.0103;FS=9.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.747;SOR=1.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=UTR5;Gene=NM_001348091,NM_016946;GeneDetail=NM_001348091:c.-12A>G\x3bNM_016946:c.-12A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000289779.7,ENST00000537746.1,ENST00000368026.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28365980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.499;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.5231;1000g2015aug_all=0.625998;esp6500siv2_all=0.1256;ExAC_ALL=0.5572;ExAC_AFR=0.7122;ExAC_AMR=0.5525;ExAC_EAS=0.6640;ExAC_FIN=0.4580;ExAC_NFE=0.5083;ExAC_OTH=0.5466;ExAC_SAS=0.6404;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,60:151:99:2245,0,3640 1 160990876 rs28365979 C A 2213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.868;DP=151;ExcessHet=3.0103;FS=9.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.69;SOR=1.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=UTR5;Gene=NM_001348091,NM_016946;GeneDetail=NM_001348091:c.-13G>T\x3bNM_016946:c.-13G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368026.10,ENST00000537746.1,ENST00000289779.7,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28365979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.498;1000g2015aug_afr=0.767;1000g2015aug_amr=0.5216;1000g2015aug_all=0.6252;esp6500siv2_all=0.0458;ExAC_ALL=0.5526;ExAC_AFR=0.7085;ExAC_AMR=0.5490;ExAC_EAS=0.6625;ExAC_FIN=0.4405;ExAC_NFE=0.5039;ExAC_OTH=0.5427;ExAC_SAS=0.6399;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,60:151:99:2242,0,3662 1 160990878 rs28365978 C T 2213.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.738;DP=150;ExcessHet=3.0103;FS=7.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.429;SOR=1.331;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=UTR5;Gene=NM_001348091,NM_016946;GeneDetail=NM_001348091:c.-15G>A\x3bNM_016946:c.-15G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621309.4,ENST00000368026.10,ENST00000537746.1,ENST00000289779.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28365978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.498;1000g2015aug_afr=0.767;1000g2015aug_amr=0.5216;1000g2015aug_all=0.6252;esp6500siv2_all=0.3167;ExAC_ALL=0.5527;ExAC_AFR=0.7085;ExAC_AMR=0.5494;ExAC_EAS=0.6623;ExAC_FIN=0.4402;ExAC_NFE=0.5041;ExAC_OTH=0.5414;ExAC_SAS=0.6399;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,59:150:99:2242,0,3662 1 160990906 rs2481085 G A 2226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.768;DP=133;ExcessHet=3.0103;FS=2.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.984;SOR=0.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF11R;Func=UTR5;Gene=NM_001348091,NM_016946;GeneDetail=NM_001348091:c.-43C>T\x3bNM_016946:c.-43C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289779.7,ENST00000368026.10,ENST00000621309.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2481085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.1319;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.2839;1000g2015aug_all=0.204473;esp6500siv2_all=0.2367;ExAC_ALL=0.2476;ExAC_AFR=0.1732;ExAC_AMR=0.2726;ExAC_EAS=0.1922;ExAC_FIN=0.3264;ExAC_NFE=0.2824;ExAC_OTH=0.2652;ExAC_SAS=0.1340;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,85:133:99:2255,0,1230 1 161007326 rs4339888 G C 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=1.44;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001113205,NM_001113206,NM_001113207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289779.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4339888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.2666;1000g2015aug_all=0.172524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 161008572 rs3766383 C A 599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.419;DP=68;ExcessHet=3.0103;FS=1.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-1.721;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSTD1;Func=intronic;Gene=NM_001113205,NM_001113206,NM_001113207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000289779.7,ENST00000318289.14,ENST00000368023.7,ENST00000423014.2,ENST00000368024.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.3156;1000g2015aug_all=0.384984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,24:68:99:628,0,1354 1 161008803 rs3766382 G T 443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=60;ExcessHet=3.0103;FS=1.081;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-1.473;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_001113205,NM_001113206,NM_001113207\x3bNM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.3156;1000g2015aug_all=0.384385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,22:60:99:472,0,1032 1 161009523 rs3737787 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=UTR3;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=NM_001276373:c.*187C>T\x3bNM_007122:c.*187C>T\x3bNM_207005:c.*187C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368020.5,ENST00000368021.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737787;cosmic70=.;CLNALLELEID=27333;CLNDN=Hyperlipidemia,_familial_combined,_susceptibility_to;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.2637;1000g2015aug_all=0.170327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 161010762 rs2073658 C T 320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.083;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.597;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073658;cosmic70=.;CLNALLELEID=27334;CLNDN=Hyperlipidemia,_familial_combined,_susceptibility_to;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2651;1000g2015aug_all=0.171126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,13:20:99:349,0,199 1 161010774 rs2516841 A G 398.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.35;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2435\x3bName\x3e"283190:AluSz(SINE)";avsnp150=rs2516841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.7824;1000g2015aug_all=0.78135;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:427,33,0 1 161010791 rs2073657 C T 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=-0.568;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2435\x3bName\x3e"283190:AluSz(SINE)";avsnp150=rs2073657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.6282;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.451;1000g2015aug_all=0.363818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:298,0,131 1 161011317 rs2516840 A G 472.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2516840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8294;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.7522;1000g2015aug_all=0.775958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 161011355 rs2073656 G C 176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.815;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368020.5,ENST00000368021.7,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2651;1000g2015aug_all=0.171126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:205,0,291 1 161011716 rs2774276 G C 1371.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.86;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2774276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.7076;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.7824;1000g2015aug_all=0.78155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1400,117,0 1 161012590 rs2073655 G A 843.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.647;DP=44;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.818;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2651;1000g2015aug_all=0.177117;esp6500siv2_all=0.2052;ExAC_ALL=0.2442;ExAC_AFR=0.0662;ExAC_AMR=0.2594;ExAC_EAS=0.1841;ExAC_FIN=0.3542;ExAC_NFE=0.2852;ExAC_OTH=0.2610;ExAC_SAS=0.1662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,28:44:99:872,0,461 1 161012760 rs2073653 T C 460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.104;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.506;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368021.7,ENST00000368020.5,ENST00000368019.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.495;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.317;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,19:45:99:489,0,699 1 161013121 rs2516839 C T 746.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.606;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.624;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=UTR5;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=NM_001276373:c.-56G>A\x3bNM_007122:c.-56G>A\x3bNM_207005:c.-1117G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368019.5,ENST00000368020.5,ENST00000368021.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2516839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.4654;1000g2015aug_all=0.396765;esp6500siv2_all=0.5079;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,28:52:99:775,0,608 1 161013312 rs6686076 T C 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.178;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.554;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSF1;Func=intronic;Gene=NM_001276373,NM_007122,NM_207005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368020.5,ENST00000368021.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.317;1000g2015aug_all=0.385383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:284,0,330 1 161018896 rs36089872 C T 697.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.01;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-2.265;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=exonic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGAP30:NM_001287602:exon8:c.G1384A:p.G462R,ARHGAP30:NM_001287600:exon11:c.G1471A:p.G491R,ARHGAP30:NM_001025598:exon12:c.G1915A:p.G639R,ARHGAP30:NM_181720:exon12:c.G1915A:p.G639R;Gencode=Name\x3eENST00000368013.7,ENST00000368015.1,ENST00000368016.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36089872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0199;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00479233;esp6500siv2_all=0.0147;ExAC_ALL=0.0165;ExAC_AFR=0.0031;ExAC_AMR=0.0044;ExAC_EAS=0;ExAC_FIN=0.0416;ExAC_NFE=0.0231;ExAC_OTH=0.0165;ExAC_SAS=0.0057;SIFT_score=0.163;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.829;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=3.06;FATHMM_pred=T;phyloP100way_vertebrate=-0.259;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=2.132;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,27:55:99:726,0,766 1 161019040 rs3813609 G C 1510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.438;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.553;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=exonic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ARHGAP30:NM_001287602:exon8:c.C1240G:p.L414V,ARHGAP30:NM_001287600:exon11:c.C1327G:p.L443V,ARHGAP30:NM_001025598:exon12:c.C1771G:p.L591V,ARHGAP30:NM_181720:exon12:c.C1771G:p.L591V;Gencode=Name\x3eENST00000368015.1,ENST00000368016.7,ENST00000368013.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.4654;1000g2015aug_all=0.395966;esp6500siv2_all=0.4905;ExAC_ALL=0.5195;ExAC_AFR=0.2509;ExAC_AMR=0.4136;ExAC_EAS=0.3314;ExAC_FIN=0.6149;ExAC_NFE=0.6080;ExAC_OTH=0.5177;ExAC_SAS=0.4651;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.361;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_pred=B;LRT_score=0.937;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=2.92;FATHMM_pred=T;phyloP100way_vertebrate=1.465;phyloP20way_mammalian=-0.741;SiPhy_29way_logOdds=1.708;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,57:102:99:1539,0,1186 1 161020997 rs55728374 C T 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.396;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.498;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=intronic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368015.1,ENST00000368016.7,ENST00000368013.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55728374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.135;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2651;1000g2015aug_all=0.172125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:355,0,238 1 161022380 rs4396136 G A 3519.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=intronic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368015.1,ENST00000368016.7,ENST00000368013.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4396136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.7536;1000g2015aug_all=0.782947;esp6500siv2_all=0.8122;ExAC_ALL=0.7712;ExAC_AFR=0.8778;ExAC_AMR=0.7567;ExAC_EAS=0.7035;ExAC_FIN=0.7706;ExAC_NFE=0.7741;ExAC_OTH=0.7876;ExAC_SAS=0.7377;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3548,318,0 1 161022639 rs3813610 C G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=intronic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368016.7,ENST00000368015.1,ENST00000368013.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.4893;ExAC_ALL=0.5227;ExAC_AFR=0.2533;ExAC_AMR=0.4178;ExAC_EAS=0.3359;ExAC_FIN=0.6158;ExAC_NFE=0.6101;ExAC_OTH=0.5174;ExAC_SAS=0.4680;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 161024782 rs12728349 C T 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.607;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=0.516;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=intronic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368013.7,ENST00000368016.7,ENST00000368015.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12728349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.4654;1000g2015aug_all=0.402955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:150,0,423 1 161024822 rs12748157 A C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.705;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARHGAP30;Func=intronic;Gene=NM_001025598,NM_001287600,NM_001287602,NM_181720;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368013.7,ENST00000368016.7,ENST00000368015.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12748157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,183 1 161043735 rs4656285 A C 680.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePVRL4;Func=intronic;Gene=NM_030916;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368012.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.7572;1000g2015aug_amr=0.7709;1000g2015aug_all=0.734225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:709,57,0 1 161043764 rs4656978 G A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.27;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePVRL4;Func=intronic;Gene=NM_030916;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368012.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.7579;1000g2015aug_all=0.72524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 161049358 rs3820097 G A 1032.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePVRL4;Func=intronic;Gene=NM_030916;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000368012.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6756;1000g2015aug_sas=0.817;1000g2015aug_eur=0.9105;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.8775;1000g2015aug_all=0.860623;esp6500siv2_all=0.9275;ExAC_ALL=0.8664;ExAC_AFR=0.9704;ExAC_AMR=0.8460;ExAC_EAS=0.6737;ExAC_FIN=0.8839;ExAC_NFE=0.8943;ExAC_OTH=0.8772;ExAC_SAS=0.8144;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1061,93,0 1 161093137 rs78180560 A G 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNIT1,DEDD;Func=intronic;Gene=NM_001039711,NM_001039712,NM_001185092,NM_001330765,NM_032998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458050.6,ENST00000368008.5,ENST00000490843.6,ENST00000368006.7,ENST00000368005.5,ENST00000545495.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78180560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0417;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.036;1000g2015aug_all=0.014976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 161136637 rs148045152 C T 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.098;DP=24;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.675;SOR=0.357;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPOX;Func=UTR5;Gene=NM_000309,NM_001122764,NM_001350128,NM_001350129,NM_001350130,NM_001350131;GeneDetail=NM_000309:c.-1C>T\x3bNM_001122764:c.-1C>T\x3bNM_001350128:c.-1C>T\x3bNM_001350129:c.-1237C>T\x3bNM_001350130:c.-1600C>T\x3bNM_001350131:c.-1600C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352210.9,ENST00000535223.5,ENST00000544598.5,ENST00000367999.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs148045152;cosmic70=.;CLNALLELEID=277170;CLNDN=Variegate_porphyria;CLNDISDB=MedGen:C0162532,OMIM:176200,Orphanet:ORPHA79473,SNOMED_CT:58275005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0004;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:270,0,384 1 161239143 rs2502812 A G 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCP4L1;Func=intronic;Gene=NM_001102566;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504449.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2502812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.5375;1000g2015aug_all=0.490615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 161242209 rs9427370 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCP4L1;Func=intronic;Gene=NM_001102566;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504449.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2576\x3bName\x3e"283687:AluSq(SINE)";avsnp150=rs9427370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.5807;1000g2015aug_all=0.530152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161253657 rs4255401 C T 1568.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCP4L1;Func=intronic;Gene=NM_001102566;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504449.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4255401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.5807;1000g2015aug_all=0.531949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1597,132,0 1 161254280 rs4477295 G C 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.754;DP=49;ExcessHet=3.0103;FS=2.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.11;SOR=0.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCP4L1;Func=UTR3;Gene=NM_001102566;GeneDetail=NM_001102566:c.*9G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504449.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4477295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.1527;1000g2015aug_all=0.198882;esp6500siv2_all=0.1724;ExAC_ALL=0.1780;ExAC_AFR=0.2631;ExAC_AMR=0.1617;ExAC_EAS=0.2228;ExAC_FIN=0.1527;ExAC_NFE=0.1595;ExAC_OTH=0.1809;ExAC_SAS=0.1970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,23:49:99:611,0,769 1 161276376 rs6685495 G A 980.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.184;DP=71;ExcessHet=3.0103;FS=1.045;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=1.312;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPZ;Func=intronic;Gene=NM_000530,NM_001315491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533357.4,ENST00000491222.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.1599;1000g2015aug_all=0.220248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,36:71:99:1009,0,1069 1 161276434 rs6674383 A G 1597.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPZ;Func=intronic;Gene=NM_000530,NM_001315491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533357.4,ENST00000491222.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6674383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1626,129,0 1 161279518 rs11579939 T C 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.216;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPZ;Func=intronic;Gene=NM_000530,NM_001315491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533357.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11579939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1421;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.034;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:214,0,282 1 161279882 rs28703151 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000530,NM_001315491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28703151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.326;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.2522;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 161348897 rs4534403 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e11224\x3bdist\x3e126308;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4534403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.6384;1000g2015aug_amr=0.2464;1000g2015aug_all=0.39377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161410654 rs12731992 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e72981\x3bdist\x3e64551;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e662\x3bName\x3e"284112:tRNA-Asp-GAY(tRNA)";avsnp150=rs12731992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.826;1000g2015aug_amr=0.9395;1000g2015aug_all=0.92512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 161412801 rs28476770 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.92;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e75128\x3bdist\x3e62404;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.997633\x3bName\x3echr1:161457633;Repeat=.;avsnp150=rs28476770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161414078 rs868033804 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.16;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e76405\x3bdist\x3e61127;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.997633\x3bName\x3echr1:161457633;Repeat=.;avsnp150=rs868033804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161442860 rs9427061 T C 149.03 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e105187\x3bdist\x3e32345;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1495\x3bName\x3e"284180:LTR12D(LTR)";avsnp150=rs9427061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.092;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.268;1000g2015aug_all=0.200479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:12:177,12,0 1 161442861 rs9427062 G A 149.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e105188\x3bdist\x3e32344;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1495\x3bName\x3e"284180:LTR12D(LTR)";avsnp150=rs9427062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0218;1000g2015aug_sas=0.092;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2622;1000g2015aug_all=0.171725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 1 161443041 rs9427387 C T 166.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.83;ReadPosRankSum=-0.792;SOR=1.108;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e105368\x3bdist\x3e32164;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30605\x3bName\x3e"284181:HERV9NC-int(LTR)";avsnp150=rs9427387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1322;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.062;1000g2015aug_all=0.0471246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:195,0,21 1 161443086 rs9427388 C T 89.89 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.15;DP=5;ExcessHet=3.0103;FS=6.021;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=22.47;ReadPosRankSum=0.319;SOR=2.788;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e105413\x3bdist\x3e32119;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30605\x3bName\x3e"284181:HERV9NC-int(LTR)";avsnp150=rs9427388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0295527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,3:4:2:116,2,0 1 161443098 rs9427389 T G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001013625,NM_001136219;GeneDetail=dist\x3e105425\x3bdist\x3e32107;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30605\x3bName\x3e"284181:HERV9NC-int(LTR)";avsnp150=rs9427389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.229;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.3242;1000g2015aug_all=0.313099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:110,0,34 1 161475750 rs10494360 G A 595.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.256;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.332;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271450.10,ENST00000367972.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.072;1000g2015aug_all=0.0565096;esp6500siv2_all=0.0974;ExAC_ALL=0.1031;ExAC_AFR=0.0257;ExAC_AMR=0.0566;ExAC_EAS=0.0003;ExAC_FIN=0.1160;ExAC_NFE=0.1384;ExAC_OTH=0.1322;ExAC_SAS=0.0888;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,24:53:99:624,0,814 1 161476204 rs9427397 C T 2184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.504;DP=109;ExcessHet=3.0103;FS=0.721;MLEAC=1;MLEAF=0.5;MQ=58.55;MQRankSum=-3.799;QD=20.04;ReadPosRankSum=-0.094;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=exonic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=stopgain;AAChange=FCGR2A:NM_001136219:exon3:c.C187T:p.Q63X,FCGR2A:NM_021642:exon3:c.C184T:p.Q62X;Gencode=Name\x3eENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427397;cosmic70=.;CLNALLELEID=389336;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0561102;esp6500siv2_all=0.0968;ExAC_ALL=0.1032;ExAC_AFR=0.0256;ExAC_AMR=0.0563;ExAC_EAS=0.0028;ExAC_FIN=0.1163;ExAC_NFE=0.1383;ExAC_OTH=0.1322;ExAC_SAS=0.0887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.762;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.500;phyloP20way_mammalian=-1.876;SiPhy_29way_logOdds=9.014;gerp++gt2=.;CADD=2.165;CADD_Phred=17.28;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,57:109:99:2213,0,3148 1 161476205 rs9427398 A G 2184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.041;DP=110;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=58.57;MQRankSum=-3.833;QD=19.86;ReadPosRankSum=0.084;SOR=0.546;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=exonic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCGR2A:NM_001136219:exon3:c.A188G:p.Q63R,FCGR2A:NM_021642:exon3:c.A185G:p.Q62R;Gencode=Name\x3eENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427398;cosmic70=.;CLNALLELEID=389339;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0664936;esp6500siv2_all=0.1096;ExAC_ALL=0.1076;ExAC_AFR=0.0619;ExAC_AMR=0.0611;ExAC_EAS=0.0028;ExAC_FIN=0.1163;ExAC_NFE=0.1397;ExAC_OTH=0.1366;ExAC_SAS=0.0890;SIFT_score=0.217;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.762;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.005;MutationAssessor_pred=M;FATHMM_score=2.61;FATHMM_pred=T;phyloP100way_vertebrate=0.113;phyloP20way_mammalian=-2.051;SiPhy_29way_logOdds=7.878;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,57:110:99:2213,0,3148 1 161476533 rs9427399 T C 883.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.734;DP=66;ExcessHet=3.0103;FS=2.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.822;SOR=0.398;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271450.10,ENST00000367972.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.0749;1000g2015aug_all=0.066893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,34:66:99:912,0,900 1 161479438 rs7552317 C T 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.473;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.179;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0680911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,247 1 161479599 rs7529425 G A 891.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.209;DP=68;ExcessHet=3.0103;FS=5.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.971;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=.;avsnp150=rs7529425;cosmic70=.;CLNALLELEID=389316;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0666933;esp6500siv2_all=0.1059;ExAC_ALL=0.1058;ExAC_AFR=0.0509;ExAC_AMR=0.0582;ExAC_EAS=0.0005;ExAC_FIN=0.1160;ExAC_NFE=0.1392;ExAC_OTH=0.1322;ExAC_SAS=0.0884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,31:68:99:920,0,1044 1 161479745 rs1801274 A G 1814.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.971;DP=130;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.138;SOR=0.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=exonic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR2A:NM_021642:exon4:c.A497G:p.H166R;Gencode=Name\x3eENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=.;avsnp150=rs1801274;cosmic70=.;CLNALLELEID=29862;CLNDN=Lupus_nephritis,_susceptibility_to|Pseudomonas_aeruginosa,_susceptibility_to_chronic_infection_by,_in_cystic_fibrosis|Malaria,_severe,_susceptibility_to|not_specified|trastuzumab_response_-_Efficacy;CLNDISDB=.|.|MedGen:C1970029|MedGen:CN169374|MedGen:CN236585;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;gwasCatalog=Name\x3eSystemic_lupus_erythematosus,Inflammatory_bowel_disease,Kawasaki_disease,Ulcerative_colitis;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.5257;1000g2015aug_amr=0.451;1000g2015aug_all=0.441693;esp6500siv2_all=0.5310;ExAC_ALL=0.4791;ExAC_AFR=0.5458;ExAC_AMR=0.5211;ExAC_EAS=0.3274;ExAC_FIN=0.5091;ExAC_NFE=0.4942;ExAC_OTH=0.4537;ExAC_SAS=0.4153;SIFT_score=0.173;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.665;MutationAssessor_pred=L;FATHMM_score=2.78;FATHMM_pred=T;phyloP100way_vertebrate=-0.458;phyloP20way_mammalian=-4.176;SiPhy_29way_logOdds=4.498;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,71:130:99:1843,0,1551 1 161480649 rs11810143 A G 2338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.36;DP=175;ExcessHet=3.0103;FS=9.149;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.74;SOR=0.309;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=exonic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCGR2A:NM_001136219:exon5:c.A645G:p.P215P,FCGR2A:NM_021642:exon5:c.A642G:p.P214P;Gencode=Name\x3eENST00000271450.10,ENST00000367972.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=.;avsnp150=rs11810143;cosmic70=.;CLNALLELEID=389346;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0553115;esp6500siv2_all=0.0945;ExAC_ALL=0.1025;ExAC_AFR=0.0199;ExAC_AMR=0.0568;ExAC_EAS=0.0024;ExAC_FIN=0.1152;ExAC_NFE=0.1379;ExAC_OTH=0.1322;ExAC_SAS=0.0887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,91:174:99:2367,0,2122 1 161481743 rs12142755 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271450.10,ENST00000367972.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=.;avsnp150=rs12142755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.2061;1000g2015aug_all=0.244808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161483484 rs373579 A G 84.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.15;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.52;MQRankSum=-0.674;QD=21.21;ReadPosRankSum=-1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271450.10,ENST00000367972.8,ENST00000537821.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=.;avsnp150=rs373579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0778;1000g2015aug_all=0.058107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:18:113,0,18 1 161483977 rs11801022 C G 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.99;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2A;Func=intronic;Gene=NM_001136219,NM_021642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537821.2,ENST00000367972.8,ENST00000271450.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161591131;Repeat=Score\x3e1307\x3bName\x3e"284239:MER57F(LTR)";avsnp150=rs11801022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 161495477 rs17853454 A T 8737.77 PASS AC=2;AF=1;AN=2;DP=261;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.94;QD=33.48;SOR=1.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA6;Func=exonic;Gene=NM_002155;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPA6:NM_002155:exon1:c.A1029T:p.T343T;Gencode=Name\x3eENST00000537821.2,ENST00000309758.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs17853454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.6531;ExAC_ALL=0.6432;ExAC_AFR=0.6684;ExAC_AMR=0.6467;ExAC_EAS=0.6876;ExAC_FIN=0.6334;ExAC_NFE=0.6481;ExAC_OTH=0.64;ExAC_SAS=0.5864;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,261:261:99:8766,783,0 1 161495885 rs404508 T C 10350.8 PASS AC=2;AF=1;AN=2;DP=308;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.94;QD=33.61;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA6;Func=exonic;Gene=NM_002155;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSPA6:NM_002155:exon1:c.T1437C:p.T479T;Gencode=Name\x3eENST00000309758.5,ENST00000537821.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs404508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.7791;1000g2015aug_amr=0.7233;1000g2015aug_all=0.801118;esp6500siv2_all=0.7656;ExAC_ALL=0.7705;ExAC_AFR=0.7951;ExAC_AMR=0.7415;ExAC_EAS=0.9314;ExAC_FIN=0.7361;ExAC_NFE=0.7535;ExAC_OTH=0.7483;ExAC_SAS=0.7743;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,308:308:99:10379,925,0 1 161496530 rs1042881 C G 745.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.016;DP=39;ExcessHet=3.0103;FS=4.083;MLEAC=1;MLEAF=0.5;MQ=58.73;MQRankSum=-1.53;QD=19.12;ReadPosRankSum=-0.718;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA6;Func=UTR3;Gene=NM_002155;GeneDetail=NM_002155:c.*150C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537821.2,ENST00000309758.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs1042881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.4508;1000g2015aug_amr=0.4193;1000g2015aug_all=0.392772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,25:39:99:774,0,412 1 161514542 rs396991 A C 848.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.875;DP=65;ExcessHet=3.0103;FS=2.534;MLEAC=1;MLEAF=0.5;MQ=54.17;MQRankSum=-5.308;QD=13.06;ReadPosRankSum=-0.545;SOR=0.351;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3A;Func=exonic;Gene=NM_000569,NM_001127592,NM_001127593,NM_001127595,NM_001127596,NM_001329120;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCGR3A:NM_000569:exon4:c.T841G:p.F281V,FCGR3A:NM_001127592:exon4:c.T838G:p.F280V,FCGR3A:NM_001127593:exon5:c.T526G:p.F176V,FCGR3A:NM_001127595:exon5:c.T526G:p.F176V,FCGR3A:NM_001127596:exon5:c.T523G:p.F175V,FCGR3A:NM_001329120:exon5:c.T526G:p.F176V;Gencode=Name\x3eENST00000436743.5,ENST00000367969.7,ENST00000537821.2,ENST00000443193.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs396991;cosmic70=.;CLNALLELEID=227742;CLNDN=not_specified|cetuximab_response_-_Efficacy|rituximab_response_-_Efficacy|trastuzumab_response_-_Efficacy;CLNDISDB=MedGen:CN169374|MedGen:CN236500|MedGen:CN236577|MedGen:CN236585;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.2739;ExAC_ALL=0.3289;ExAC_AFR=0.3321;ExAC_AMR=0.2327;ExAC_EAS=0.3273;ExAC_FIN=0.2790;ExAC_NFE=0.3468;ExAC_OTH=0.3367;ExAC_SAS=0.3428;SIFT_score=0.212;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.034;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.16;MutationAssessor_pred=N;FATHMM_score=2.76;FATHMM_pred=T;phyloP100way_vertebrate=-0.375;phyloP20way_mammalian=-3.170;SiPhy_29way_logOdds=0.356;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,33:65:99:877,0,985 1 161518172 rs4656315 C T 2098.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.591;DP=143;ExcessHet=3.0103;FS=2.316;MLEAC=1;MLEAF=0.5;MQ=40.84;MQRankSum=-0.021;QD=14.68;ReadPosRankSum=-1.173;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3A;Func=intronic;Gene=NM_000569,NM_001127592,NM_001127593,NM_001127595,NM_001127596,NM_001329120,NM_001329122;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000436743.5,ENST00000367969.7,ENST00000537821.2,ENST00000443193.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs4656315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2583;ExAC_AFR=0.1049;ExAC_AMR=0.3233;ExAC_EAS=0.1983;ExAC_FIN=0.2842;ExAC_NFE=0.2804;ExAC_OTH=0.2606;ExAC_SAS=0.2358;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,72:143:99:2127,0,2189 1 161518333 rs10127939 A T 4597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.822;DP=455;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.24;MQRankSum=-0.95;QD=10.15;ReadPosRankSum=0.552;SOR=0.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3A;Func=exonic;Gene=NM_000569,NM_001127592,NM_001127593,NM_001127595,NM_001127596,NM_001329120,NM_001329122;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCGR3A:NM_000569:exon3:c.T512A:p.L171H,FCGR3A:NM_001127592:exon3:c.T509A:p.L170H,FCGR3A:NM_001329122:exon3:c.T512A:p.L171H,FCGR3A:NM_001127593:exon4:c.T197A:p.L66H,FCGR3A:NM_001127595:exon4:c.T197A:p.L66H,FCGR3A:NM_001127596:exon4:c.T194A:p.L65H,FCGR3A:NM_001329120:exon4:c.T197A:p.L66H;Gencode=Name\x3eENST00000537821.2,ENST00000443193.5,ENST00000436743.5,ENST00000367969.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs10127939;cosmic70=.;CLNALLELEID=29867;CLNDN=Immunodeficiency_20|not_specified;CLNDISDB=MedGen:C3810342,OMIM:615707,Orphanet:ORPHA437552|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0805;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0265575;esp6500siv2_all=0.0552;ExAC_ALL=0.0544;ExAC_AFR=0.0111;ExAC_AMR=0.0372;ExAC_EAS=0;ExAC_FIN=0.0643;ExAC_NFE=0.0782;ExAC_OTH=0.0661;ExAC_SAS=0.0215;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.942;Polyphen2_HVAR_pred=D;LRT_score=0.737;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.77;MutationAssessor_pred=M;FATHMM_score=2.6;FATHMM_pred=T;phyloP100way_vertebrate=-1.005;phyloP20way_mammalian=-0.349;SiPhy_29way_logOdds=3.890;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:274,179:453:99:4626,0,7638 1 161519411 rs10917571 C A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.77;ReadPosRankSum=-1.276;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3A;Func=intronic;Gene=NM_000569,NM_001127592,NM_001127593,NM_001127595,NM_001127596,NM_001329120,NM_001329122;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367969.7,ENST00000436743.5,ENST00000537821.2,ENST00000443193.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs10917571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.3818;1000g2015aug_all=0.340455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:99:375,0,125 1 161519440 rs34436026 C T 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.15;MQRankSum=0.738;QD=22.74;ReadPosRankSum=0.476;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3A;Func=intronic;Gene=NM_000569,NM_001127592,NM_001127593,NM_001127595,NM_001127596,NM_001329120,NM_001329122;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443193.5,ENST00000537821.2,ENST00000367969.7,ENST00000436743.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs34436026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0328;1000g2015aug_afr=.;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0105831;esp6500siv2_all=0.0235;ExAC_ALL=0.0218;ExAC_AFR=0.0067;ExAC_AMR=0.0402;ExAC_EAS=0.0001;ExAC_FIN=0.0086;ExAC_NFE=0.0279;ExAC_OTH=0.0179;ExAC_SAS=0.0106;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,13:20:99:483,0,232 1 161559327 rs3933769 A G 1517.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611236.1,ENST00000403078.7,ENST00000537821.2,ENST00000543859.5,ENST00000466542.6,ENST00000367960.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs3933769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.7896;1000g2015aug_all=0.702476;esp6500siv2_all=0.6828;ExAC_ALL=0.7391;ExAC_AFR=0.6077;ExAC_AMR=0.8682;ExAC_EAS=0.7605;ExAC_FIN=0.7995;ExAC_NFE=0.7297;ExAC_OTH=0.7295;ExAC_SAS=0.7308;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1546,144,0 1 161559784 rs1674779 A G 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.26;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000466542.6,ENST00000543859.5,ENST00000537821.2,ENST00000403078.7,ENST00000611236.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs1674779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.615;1000g2015aug_amr=0.7939;1000g2015aug_all=0.714058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 161561236 rs2298024 C T 1021.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.57;QD=34.19;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000611236.1,ENST00000543859.5,ENST00000537821.2,ENST00000367960.9,ENST00000466542.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs2298024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0982;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.336;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.2406;1000g2015aug_all=0.22484;esp6500siv2_all=0.3100;ExAC_ALL=0.2967;ExAC_AFR=0.2404;ExAC_AMR=0.2797;ExAC_EAS=0.1073;ExAC_FIN=0.3408;ExAC_NFE=0.3394;ExAC_OTH=0.3058;ExAC_SAS=0.2591;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1050,84,0 1 161561676 rs72700080 T C 660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.012;DP=39;ExcessHet=3.0103;FS=11.309;MLEAC=1;MLEAF=0.5;MQ=47.64;MQRankSum=-6.002;QD=16.94;ReadPosRankSum=1.863;SOR=2.658;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000611236.1,ENST00000543859.5,ENST00000537821.2,ENST00000367960.9,ENST00000466542.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs72700080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,18:39:99:689,0,1271 1 161561681 rs72700082 C T 699.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.416;DP=40;ExcessHet=3.0103;FS=8.769;MLEAC=1;MLEAF=0.5;MQ=47.99;MQRankSum=-5.769;QD=17.49;ReadPosRankSum=1.736;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000466542.6,ENST00000537821.2,ENST00000543859.5,ENST00000611236.1,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs72700082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:728,0,1275 1 161561729 rs61801811 C T 888.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.278;DP=47;ExcessHet=3.0103;FS=7.254;MLEAC=1;MLEAF=0.5;MQ=47.62;MQRankSum=-4.823;QD=18.91;ReadPosRankSum=0.064;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000466542.6,ENST00000543859.5,ENST00000537821.2,ENST00000403078.7,ENST00000611236.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs61801811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0746;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0597045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:917,0,1390 1 161561734 rs1771555 G A 891.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.653;DP=46;ExcessHet=3.0103;FS=9.645;MLEAC=1;MLEAF=0.5;MQ=47.63;MQRankSum=-4.635;QD=19.39;ReadPosRankSum=0.154;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611236.1,ENST00000403078.7,ENST00000537821.2,ENST00000543859.5,ENST00000367960.9,ENST00000466542.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161600000;Repeat=.;avsnp150=rs1771555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:920,0,1354 1 161565324 rs61801822 C T 965.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.53;QD=32.19;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537821.2,ENST00000543859.5,ENST00000367960.9,ENST00000466542.6,ENST00000611236.1,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161509807;Repeat=.;avsnp150=rs61801822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7584;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.7983;1000g2015aug_all=0.699081;esp6500siv2_all=.;ExAC_ALL=0.7411;ExAC_AFR=0.5415;ExAC_AMR=0.8620;ExAC_EAS=0.7452;ExAC_FIN=0.7895;ExAC_NFE=0.7425;ExAC_OTH=0.7387;ExAC_SAS=0.7536;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:994,90,0 1 161565381 rs76277413 A G 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.415;DP=54;ExcessHet=3.0103;FS=1.105;MLEAC=1;MLEAF=0.5;MQ=53.63;MQRankSum=-3.525;QD=7.09;ReadPosRankSum=-1.549;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=splicing;Gene=NM_201563;GeneDetail=NM_201563:exon6:c.798+1A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000466542.6,ENST00000367960.9,ENST00000543859.5,ENST00000537821.2,ENST00000403078.7,ENST00000611236.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161509807;Repeat=.;avsnp150=rs76277413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0624;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.085;1000g2015aug_all=0.0573083;esp6500siv2_all=0.0682;ExAC_ALL=0.1038;ExAC_AFR=0.0259;ExAC_AMR=0.0548;ExAC_EAS=0.0016;ExAC_FIN=0.1231;ExAC_NFE=0.1445;ExAC_OTH=0.1156;ExAC_SAS=0.0686;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.998;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=1.952;phyloP20way_mammalian=-0.118;SiPhy_29way_logOdds=4.994;gerp++gt2=2.13;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,19:54:99:411,0,939 1 161569343 rs371355868 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.86;MQRankSum=-1.718;QD=10.6;ReadPosRankSum=-0.545;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=intronic;Gene=NM_201563;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611236.1,ENST00000403078.7,ENST00000537821.2,ENST00000543859.5,ENST00000367960.9,ENST00000466542.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161509807;Repeat=Score\x3e465\x3bName\x3e"284406:MER57-int(LTR)";avsnp150=rs371355868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.1392;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:113,0,121 1 161569419 rs430178 C G 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.81;MQRankSum=-4.425;QD=9.51;ReadPosRankSum=0.528;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=splicing;Gene=NM_201563;GeneDetail=NM_201563:exon7:c.799-1C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543859.5,ENST00000537821.2,ENST00000466542.6,ENST00000367960.9,ENST00000403078.7,ENST00000611236.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.97162\x3bName\x3echr1:161509807;Repeat=Score\x3e465\x3bName\x3e"284406:MER57-int(LTR)";avsnp150=rs430178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6766;1000g2015aug_sas=0.7597;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.8012;1000g2015aug_all=0.741414;esp6500siv2_all=.;ExAC_ALL=0.4234;ExAC_AFR=0.3272;ExAC_AMR=0.4064;ExAC_EAS=0.3522;ExAC_FIN=0.3232;ExAC_NFE=0.3987;ExAC_OTH=0.5028;ExAC_SAS=0.6102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-0.111;phyloP20way_mammalian=-0.677;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:247,0,440 1 161569815 rs114532422 G C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.83;MQRankSum=-1.96;QD=13.13;ReadPosRankSum=1.44;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2C;Func=UTR3;Gene=NM_201563;GeneDetail=NM_201563:c.*222G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000537821.2,ENST00000543859.5,ENST00000367960.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=Score\x3e790\x3bName\x3e"284407:MER57F(LTR)";avsnp150=rs114532422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 161577204 rs200837054 G T 2277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.553;DP=144;ExcessHet=3.0103;FS=2.304;MLEAC=1;MLEAF=0.5;MQ=48.79;MQRankSum=0.388;QD=15.82;ReadPosRankSum=-0.839;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA7;Func=ncRNA_exonic;Gene=NR_024151;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000367960.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs200837054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.2262;1000g2015aug_all=0.207668;esp6500siv2_all=.;ExAC_ALL=0.2332;ExAC_AFR=0.0688;ExAC_AMR=0.2470;ExAC_EAS=0.1741;ExAC_FIN=0.2221;ExAC_NFE=0.2642;ExAC_OTH=0.2476;ExAC_SAS=0.2047;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,76:144:99:2306,0,1998 1 161577657 rs61802306 G A 2957.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.746;DP=201;ExcessHet=3.0103;FS=1.727;MLEAC=1;MLEAF=0.5;MQ=56.23;MQRankSum=-7.581;QD=14.72;ReadPosRankSum=-0.121;SOR=0.834;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA7;Func=ncRNA_exonic;Gene=NR_024151;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61802306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.2925;1000g2015aug_all=0.286142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:99,102:201:99:2986,0,2694 1 161577669 rs61802307 G A 2785.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.734;DP=187;ExcessHet=3.0103;FS=2.553;MLEAC=1;MLEAF=0.5;MQ=55.84;MQRankSum=-7.866;QD=14.9;ReadPosRankSum=-0.28;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSPA7;Func=ncRNA_exonic;Gene=NR_024151;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61802307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.7392;1000g2015aug_all=0.662141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,96:187:99:2814,0,2518 1 161594100 rs61803007 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR3;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=NM_000570:c.*205G>A\x3bNM_001244753:c.*205G>A\x3bNM_001271035:c.*205G>A\x3bNM_001271036:c.*205G>A\x3bNM_001271037:c.*205G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531221.5,ENST00000403078.7,ENST00000294800.7,ENST00000367964.6,ENST00000614870.4,ENST00000367960.9,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803007;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.662;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.487;1000g2015aug_all=0.514577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 161594226 rs61803008 C T 718.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.94;QD=31.62;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR3;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=NM_000570:c.*79G>A\x3bNM_001244753:c.*79G>A\x3bNM_001271035:c.*79G>A\x3bNM_001271036:c.*79G>A\x3bNM_001271037:c.*79G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294800.7,ENST00000367964.6,ENST00000403078.7,ENST00000531221.5,ENST00000613418.4,ENST00000367960.9,ENST00000614870.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9452;1000g2015aug_all=0.895966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:747,57,0 1 161594246 rs61803009 G T 740.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.79;QD=30.68;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR3;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=NM_000570:c.*59C>A\x3bNM_001244753:c.*59C>A\x3bNM_001271035:c.*59C>A\x3bNM_001271036:c.*59C>A\x3bNM_001271037:c.*59C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613418.4,ENST00000614870.4,ENST00000367960.9,ENST00000294800.7,ENST00000367964.6,ENST00000531221.5,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9452;1000g2015aug_all=0.895966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:769,60,0 1 161594525 rs61803010 G C 2387.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.63;QD=31.29;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613418.4,ENST00000614870.4,ENST00000367960.9,ENST00000367964.6,ENST00000294800.7,ENST00000531221.5,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9452;1000g2015aug_all=0.895767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:2416,163,0 1 161594526 rs61803011 T G 2387.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.09;QD=30.83;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531221.5,ENST00000403078.7,ENST00000294800.7,ENST00000367964.6,ENST00000614870.4,ENST00000367960.9,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.9452;1000g2015aug_all=0.895367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2416,163,0 1 161594561 rs61803012 C G 1024.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.43;QD=26.93;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294800.7,ENST00000367964.6,ENST00000403078.7,ENST00000531221.5,ENST00000613418.4,ENST00000367960.9,ENST00000614870.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.9354;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.9135;1000g2015aug_all=0.868411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1053,84,0 1 161596283 rs418215 G A 5760.77 PASS AC=2;AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.24;QD=28.01;SOR=3.984;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613418.4,ENST00000614870.4,ENST00000367960.9,ENST00000294800.7,ENST00000367964.6,ENST00000531221.5,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs418215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.745;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.7897;1000g2015aug_amr=0.938;1000g2015aug_all=0.871805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,155:155:99:5789,466,0 1 161600104 rs566300631 A T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.891;DP=48;ExcessHet=3.0103;FS=6.404;MLEAC=1;MLEAF=0.5;MQ=51.92;MQRankSum=-3.606;QD=2.33;ReadPosRankSum=-1.273;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613418.4,ENST00000367960.9,ENST00000614870.4,ENST00000294800.7,ENST00000367964.6,ENST00000403078.7,ENST00000531221.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs566300631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,8:48:99:140,0,1076 1 161600345 rs145831350 C T 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.385;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=22.18;ReadPosRankSum=-0.984;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000531221.5,ENST00000367964.6,ENST00000294800.7,ENST00000367960.9,ENST00000614870.4,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs145831350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.3638;1000g2015aug_amr=0.4597;1000g2015aug_all=0.464657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:250,0,95 1 161600460 rs61803022 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531221.5,ENST00000403078.7,ENST00000294800.7,ENST00000367964.6,ENST00000614870.4,ENST00000367960.9,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9811;1000g2015aug_afr=0.7201;1000g2015aug_amr=0.9741;1000g2015aug_all=0.916334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161600469 rs61803023 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531221.5,ENST00000403078.7,ENST00000294800.7,ENST00000367964.6,ENST00000614870.4,ENST00000367960.9,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9831;1000g2015aug_afr=0.882;1000g2015aug_amr=0.9841;1000g2015aug_all=0.960863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161600477 rs61803024 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=intronic;Gene=NM_000570,NM_001244753,NM_001271035,NM_001271036,NM_001271037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000531221.5,ENST00000367964.6,ENST00000294800.7,ENST00000367960.9,ENST00000614870.4,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9821;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.9798;1000g2015aug_all=0.936701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161600787 rs3883928 G C 220.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.5;QD=31.68;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR5;Gene=NM_001271036,NM_001271037;GeneDetail=NM_001271036:c.-620C>G\x3bNM_001271037:c.-620C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000531221.5,ENST00000367964.6,ENST00000294800.7,ENST00000367960.9,ENST00000614870.4,ENST00000613418.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs3883928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8835;1000g2015aug_amr=0.9928;1000g2015aug_all=0.968051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:249,18,0 1 161600832 rs3883934 G T 488.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.88;QD=34.91;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR5;Gene=NM_001271036,NM_001271037;GeneDetail=NM_001271036:c.-665C>A\x3bNM_001271037:c.-665C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367964.6,ENST00000294800.7,ENST00000531221.5,ENST00000403078.7,ENST00000613418.4,ENST00000614870.4,ENST00000367960.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs3883934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.662;1000g2015aug_afr=0.441;1000g2015aug_amr=0.4798;1000g2015aug_all=0.5002;esp6500siv2_all=0.6083;ExAC_ALL=0.6104;ExAC_AFR=0.5177;ExAC_AMR=0.4678;ExAC_EAS=0.3922;ExAC_FIN=0.6375;ExAC_NFE=0.6714;ExAC_OTH=0.6452;ExAC_SAS=0.6130;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 161601133 rs61803027 T C 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR3B;Func=UTR5;Gene=NM_001244753,NM_001271035;GeneDetail=NM_001244753:c.-141A>G\x3bNM_001271035:c.-141A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000403078.7,ENST00000367964.6,ENST00000294800.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs61803027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9928;1000g2015aug_all=0.96905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 161616737 rs56128011 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000570,NM_004001;GeneDetail=dist\x3e14984\x3bdist\x3e16168;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000367960.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs56128011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.2089;1000g2015aug_all=0.186701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161641384 rs6665610 G A 912.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.627;DP=127;ExcessHet=3.0103;FS=1.609;MLEAC=1;MLEAF=0.5;MQ=44.33;MQRankSum=0.806;QD=7.19;ReadPosRankSum=-0.287;SOR=0.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=exonic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCGR2B:NM_001190828:exon2:c.G315A:p.T105T,FCGR2B:NM_001002273:exon3:c.G333A:p.T111T,FCGR2B:NM_001002274:exon3:c.G336A:p.T112T,FCGR2B:NM_001002275:exon3:c.G333A:p.T111T,FCGR2B:NM_004001:exon3:c.G336A:p.T112T;Gencode=Name\x3eENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000367961.8,ENST00000236937.13,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs6665610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.1998;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.1066;1000g2015aug_all=0.138179;esp6500siv2_all=0.1829;ExAC_ALL=0.1504;ExAC_AFR=0.1710;ExAC_AMR=0.0889;ExAC_EAS=0.0616;ExAC_FIN=0.1642;ExAC_NFE=0.1777;ExAC_OTH=0.1503;ExAC_SAS=0.1113;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,37:127:99:941,0,2766 1 161643527 rs1674755 A C 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=18.176;MLEAC=1;MLEAF=0.5;MQ=51.74;MQRankSum=-3.56;QD=18.99;ReadPosRankSum=0.14;SOR=3.017;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367961.8,ENST00000453111.1,ENST00000428605.3,ENST00000358671.9,ENST00000367960.9,ENST00000236937.13,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1674755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.3213;1000g2015aug_all=0.187101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:351,0,594 1 161643529 rs369224649 A G 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=18.176;MLEAC=1;MLEAF=0.5;MQ=52.23;MQRankSum=-3.712;QD=17.93;ReadPosRankSum=0.388;SOR=3.015;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000453111.1,ENST00000367961.8,ENST00000236937.13,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs369224649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.3199;1000g2015aug_all=0.184505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:351,0,594 1 161643533 rs1674756 A G 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=28.543;MLEAC=1;MLEAF=0.5;MQ=51.18;MQRankSum=-3.951;QD=17.55;ReadPosRankSum=0.409;SOR=4.395;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000453111.1,ENST00000367961.8,ENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000236937.13,ENST00000403078.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1674756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.3199;1000g2015aug_all=0.184105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:309,0,597 1 161643546 rs1771554 T C 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=32.475;MLEAC=1;MLEAF=0.5;MQ=52.08;MQRankSum=-3.475;QD=9.22;ReadPosRankSum=1.21;SOR=3.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403078.7,ENST00000236937.13,ENST00000358671.9,ENST00000428605.3,ENST00000367960.9,ENST00000367961.8,ENST00000453111.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1771554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.3199;1000g2015aug_all=0.184105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:185,0,408 1 161643560 rs74816838 C T 463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.893;DP=33;ExcessHet=3.0103;FS=16.72;MLEAC=1;MLEAF=0.5;MQ=40.5;MQRankSum=-2.479;QD=14.05;ReadPosRankSum=-1.267;SOR=0.013;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236937.13,ENST00000403078.7,ENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000453111.1,ENST00000367961.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs74816838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.17;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0893;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:492,0,465 1 161644307 rs6667399 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.83;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000453111.1,ENST00000367961.8,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=Score\x3e761\x3bName\x3e"284553:MIR(SINE)";avsnp150=rs6667399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.997;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.9971;1000g2015aug_all=0.984625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161644308 rs1771556 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.83;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358671.9,ENST00000428605.3,ENST00000367960.9,ENST00000367961.8,ENST00000453111.1,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=Score\x3e761\x3bName\x3e"284553:MIR(SINE)";avsnp150=rs1771556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=1;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 161645259 rs1674759 T G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000367961.8,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1674759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.8386;1000g2015aug_all=0.792532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 161645409 rs1674760 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.12;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367961.8,ENST00000358671.9,ENST00000428605.3,ENST00000367960.9,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1674760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.8372;1000g2015aug_all=0.792332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 161645471 rs1674761 A C 104.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.67;QD=26.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=intronic;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367961.8,ENST00000367960.9,ENST00000358671.9,ENST00000428605.3,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.982978\x3bName\x3echr1:161518344;Repeat=.;avsnp150=rs1674761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.8386;1000g2015aug_all=0.792532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:132,12,0 1 161647533 rs844 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCGR2B;Func=UTR3;Gene=NM_001002273,NM_001002274,NM_001002275,NM_001190828,NM_004001;GeneDetail=NM_001002273:c.*190A>G\x3bNM_001002274:c.*190A>G\x3bNM_001002275:c.*190A>G\x3bNM_001190828:c.*190A>G\x3bNM_004001:c.*190A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367960.9,ENST00000358671.9,ENST00000367961.8,ENST00000403078.7,ENST00000236937.13;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.705;1000g2015aug_amr=0.7565;1000g2015aug_all=0.704073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,114 1 161654843 rs1256288 C G 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.675;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.719;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPL31P11;Func=ncRNA_exonic;Gene=NR_002595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1256288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.726;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.705;1000g2015aug_amr=0.7853;1000g2015aug_all=0.729832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:54:312,0,54 1 161654948 rs6686673 T C 62.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.411;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.48;ReadPosRankSum=-0.92;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPL31P11;Func=ncRNA_exonic;Gene=NR_002595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.1254;1000g2015aug_all=0.108826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:91:91,0,273 1 161676904 rs1340977 T C 647.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=UTR5;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=NM_001184866:c.-100T>C\x3bNM_001184867:c.-100T>C\x3bNM_001184870:c.-100T>C\x3bNM_001184871:c.-100T>C\x3bNM_001184872:c.-100T>C\x3bNM_001184873:c.-100T>C\x3bNM_032738:c.-100T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367949.6,ENST00000546024.5,ENST00000367959.6,ENST00000350710.3,ENST00000540521.5,ENST00000236938.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.4977;1000g2015aug_amr=0.5029;1000g2015aug_all=0.616014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:676,51,0 1 161676970 rs1340978 A G 1661.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=UTR5;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=NM_001184866:c.-34A>G\x3bNM_001184867:c.-34A>G\x3bNM_001184870:c.-34A>G\x3bNM_001184871:c.-34A>G\x3bNM_001184872:c.-34A>G\x3bNM_001184873:c.-34A>G\x3bNM_032738:c.-34A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350710.3,ENST00000540521.5,ENST00000236938.10,ENST00000546024.5,ENST00000367949.6,ENST00000367959.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.5101;1000g2015aug_all=0.639177;esp6500siv2_all=0.6362;ExAC_ALL=0.6330;ExAC_AFR=0.6033;ExAC_AMR=0.4690;ExAC_EAS=0.8317;ExAC_FIN=0.6621;ExAC_NFE=0.6579;ExAC_OTH=0.6336;ExAC_SAS=0.5495;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1690,141,0 1 161677350 rs1340979 A G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.42;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=intronic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236938.10,ENST00000349527.8,ENST00000540521.5,ENST00000367950.1,ENST00000350710.3,ENST00000367953.7,ENST00000367959.6,ENST00000367957.6,ENST00000546024.5,ENST00000367949.6,ENST00000294796.8,ENST00000309691.10;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1170\x3bName\x3e"284621:L2c(LINE)";avsnp150=rs1340979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.5029;1000g2015aug_all=0.61242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 161677389 rs1340980 G A 220.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=intronic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350710.3,ENST00000367950.1,ENST00000540521.5,ENST00000236938.10,ENST00000349527.8,ENST00000309691.10,ENST00000294796.8,ENST00000367949.6,ENST00000546024.5,ENST00000367957.6,ENST00000367959.6,ENST00000367953.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1170\x3bName\x3e"284621:L2c(LINE)";avsnp150=rs1340980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.497;1000g2015aug_amr=0.4755;1000g2015aug_all=0.594848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:249,18,0 1 161680258 rs6427618 G A 1103.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=intronic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367953.7,ENST00000367959.6,ENST00000367957.6,ENST00000546024.5,ENST00000367949.6,ENST00000294796.8,ENST00000309691.10,ENST00000349527.8,ENST00000236938.10,ENST00000540521.5,ENST00000367950.1,ENST00000350710.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.4827;1000g2015aug_all=0.443091;esp6500siv2_all=.;ExAC_ALL=0.5972;ExAC_AFR=0.2856;ExAC_AMR=0.5217;ExAC_EAS=0.3534;ExAC_FIN=0.6561;ExAC_NFE=0.6529;ExAC_OTH=0.5818;ExAC_SAS=0.6045;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1132,96,0 1 161680868 rs1934908 T C 404.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.308;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.225;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=intronic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367959.6,ENST00000367957.6,ENST00000367953.7,ENST00000309691.10,ENST00000546024.5,ENST00000367949.6,ENST00000294796.8,ENST00000367950.1,ENST00000236938.10,ENST00000349527.8,ENST00000540521.5,ENST00000350710.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1934908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.3458;1000g2015aug_all=0.300719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,15:36:99:433,0,633 1 161681552 rs17413736 T C 660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.23;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=1.136;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=intronic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367950.1,ENST00000540521.5,ENST00000349527.8,ENST00000236938.10,ENST00000350710.3,ENST00000367957.6,ENST00000367959.6,ENST00000367953.7,ENST00000309691.10,ENST00000294796.8,ENST00000546024.5,ENST00000367949.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17413736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1081;1000g2015aug_all=0.0708866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,23:45:99:689,0,715 1 161682975 rs6688140 G T 748.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.45;DP=56;ExcessHet=3.0103;FS=1.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.263;SOR=0.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=exonic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCRLA:NM_001184871:exon2:c.G231T:p.P77P,FCRLA:NM_001184872:exon3:c.G516T:p.P172P,FCRLA:NM_001184873:exon3:c.G384T:p.P128P,FCRLA:NM_001184867:exon4:c.G669T:p.P223P,FCRLA:NM_001184870:exon4:c.G534T:p.P178P,FCRLA:NM_032738:exon5:c.G936T:p.P312P,FCRLA:NM_001184866:exon6:c.G954T:p.P318P;Gencode=Name\x3eENST00000546024.5,ENST00000367949.6,ENST00000294796.8,ENST00000309691.10,ENST00000367953.7,ENST00000367959.6,ENST00000367957.6,ENST00000350710.3,ENST00000236938.10,ENST00000349527.8,ENST00000540521.5,ENST00000367950.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0125799;esp6500siv2_all=0.0232;ExAC_ALL=0.0239;ExAC_AFR=0.0041;ExAC_AMR=0.0195;ExAC_EAS=0.0008;ExAC_FIN=0.0136;ExAC_NFE=0.0350;ExAC_OTH=0.0264;ExAC_SAS=0.0108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,30:56:99:777,0,678 1 161683136 rs11746 G A 1339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.855;DP=105;ExcessHet=3.0103;FS=2.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.404;SOR=0.982;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLA;Func=exonic;Gene=NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873,NM_032738;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRLA:NM_001184871:exon2:c.G392A:p.R131Q,FCRLA:NM_001184872:exon3:c.G677A:p.R226Q,FCRLA:NM_001184873:exon3:c.G545A:p.R182Q,FCRLA:NM_001184867:exon4:c.G830A:p.R277Q,FCRLA:NM_001184870:exon4:c.G695A:p.R232Q,FCRLA:NM_032738:exon5:c.G1097A:p.R366Q,FCRLA:NM_001184866:exon6:c.G1115A:p.R372Q;Gencode=Name\x3eENST00000367953.7,ENST00000367959.6,ENST00000367957.6,ENST00000367949.6,ENST00000546024.5,ENST00000294796.8,ENST00000309691.10,ENST00000236938.10,ENST00000349527.8,ENST00000540521.5,ENST00000367950.1,ENST00000350710.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2371;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.3444;1000g2015aug_all=0.297125;esp6500siv2_all=0.3596;ExAC_ALL=0.4183;ExAC_AFR=0.1130;ExAC_AMR=0.3009;ExAC_EAS=0.2600;ExAC_FIN=0.5064;ExAC_NFE=0.4900;ExAC_OTH=0.4626;ExAC_SAS=0.4482;SIFT_score=0.375;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.838;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.91;FATHMM_pred=T;phyloP100way_vertebrate=-0.766;phyloP20way_mammalian=-2.213;SiPhy_29way_logOdds=7.078;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,53:105:99:1368,0,1224 1 161693003 rs4657093 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.282;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLB;Func=intronic;Gene=NM_001002901,NM_001288829,NM_001288830,NM_001288831,NM_001288832,NM_001320241;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367948.6,ENST00000367946.7,ENST00000336830.9,ENST00000367944.3,ENST00000367945.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.135;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.3746;1000g2015aug_all=0.203275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 161695639 rs7520519 G T 2738.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLB;Func=exonic;Gene=NM_001002901,NM_001288829,NM_001288830,NM_001288831,NM_001288832,NM_001320241;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCRLB:NM_001288830:exon3:c.G315T:p.A105A,FCRLB:NM_001288832:exon3:c.G315T:p.A105A,FCRLB:NM_001288829:exon4:c.G336T:p.A112A,FCRLB:NM_001288831:exon4:c.G336T:p.A112A,FCRLB:NM_001320241:exon5:c.G336T:p.A112A,FCRLB:NM_001002901:exon6:c.G336T:p.A112A;Gencode=Name\x3eENST00000336830.9,ENST00000367948.6,ENST00000367946.7,ENST00000367945.5,ENST00000367944.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.9352;1000g2015aug_all=0.927716;esp6500siv2_all=0.9016;ExAC_ALL=0.8849;ExAC_AFR=0.9739;ExAC_AMR=0.9199;ExAC_EAS=0.9979;ExAC_FIN=0.8480;ExAC_NFE=0.8712;ExAC_OTH=0.8877;ExAC_SAS=0.8144;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2767,234,0 1 161696088 rs1417582 T C 1729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.41;DP=133;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-1.062;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLB;Func=intronic;Gene=NM_001002901,NM_001288829,NM_001288830,NM_001288831,NM_001288832,NM_001320241;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367945.5,ENST00000367944.3,ENST00000336830.9,ENST00000367946.7,ENST00000367948.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1417582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.6968;1000g2015aug_afr=0.379;1000g2015aug_amr=0.5202;1000g2015aug_all=0.581869;esp6500siv2_all=.;ExAC_ALL=0.5910;ExAC_AFR=0.4592;ExAC_AMR=0.6140;ExAC_EAS=0.8021;ExAC_FIN=0.7188;ExAC_NFE=0.6842;ExAC_OTH=0.5921;ExAC_SAS=0.5353;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,63:133:99:1758,0,1928 1 161696782 rs11585450 G C 361.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.976;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.087;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLB;Func=exonic;Gene=NM_001002901,NM_001288829,NM_001288830,NM_001288831,NM_001288832,NM_001320241;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FCRLB:NM_001288830:exon4:c.G698C:p.R233P,FCRLB:NM_001288832:exon4:c.G739C:p.G247R,FCRLB:NM_001288829:exon5:c.G719C:p.R240P,FCRLB:NM_001288831:exon5:c.G760C:p.G254R;Gencode=Name\x3eENST00000367946.7,ENST00000367948.6,ENST00000336830.9,ENST00000367944.3,ENST00000367945.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.456;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.3775;1000g2015aug_all=0.314497;esp6500siv2_all=0.3672;ExAC_ALL=0.4900;ExAC_AFR=0.1681;ExAC_AMR=0.3753;ExAC_EAS=0.3420;ExAC_FIN=0.5905;ExAC_NFE=0.5536;ExAC_OTH=0.5319;ExAC_SAS=0.5169;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.337;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.086;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=4.35;FATHMM_pred=T;phyloP100way_vertebrate=-2.478;phyloP20way_mammalian=-0.252;SiPhy_29way_logOdds=14.880;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,15:20:99:390,0,115 1 161696998 rs1875763 C G 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.519;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCRLB;Func=intronic;Gene=NM_001002901,NM_001288829,NM_001288830,NM_001288831,NM_001288832,NM_001320241;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367944.3,ENST00000367945.5,ENST00000367946.7,ENST00000367948.6,ENST00000336830.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1875763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.455;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.3847;1000g2015aug_all=0.322085;esp6500siv2_all=0.3881;ExAC_ALL=0.4443;ExAC_AFR=0.1740;ExAC_AMR=0.3333;ExAC_EAS=0.2695;ExAC_FIN=0.5282;ExAC_NFE=0.5121;ExAC_OTH=0.4904;ExAC_SAS=0.4724;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:187,0,178 1 161721351 rs7540096 A G 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.267;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.41;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP12;Func=intronic;Gene=NM_007240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367943.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.9009;1000g2015aug_amr=0.3429;1000g2015aug_all=0.58147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:252,0,448 1 161721707 rs1063178 C T 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.108;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.902;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP12;Func=exonic;Gene=NM_007240;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DUSP12:NM_007240:exon3:c.C510T:p.Y170Y;Gencode=Name\x3eENST00000367943.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1063178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.407;1000g2015aug_amr=0.2464;1000g2015aug_all=0.360024;esp6500siv2_all=0.3540;ExAC_ALL=0.3399;ExAC_AFR=0.3919;ExAC_AMR=0.2402;ExAC_EAS=0.4780;ExAC_FIN=0.3041;ExAC_NFE=0.3343;ExAC_OTH=0.3414;ExAC_SAS=0.3420;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:301,0,513 1 161722272 rs10917852 C A 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.026;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP12;Func=intronic;Gene=NM_007240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367943.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2637;1000g2015aug_all=0.214457;esp6500siv2_all=0.2908;ExAC_ALL=0.3222;ExAC_AFR=0.0929;ExAC_AMR=0.2047;ExAC_EAS=0.0541;ExAC_FIN=0.4610;ExAC_NFE=0.4022;ExAC_OTH=0.3778;ExAC_SAS=0.3035;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:69:187,0,69 1 161736035 rs2298019 A G 2827.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=2.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=UTR5;Gene=NM_007348;GeneDetail=NM_007348:c.-116A>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.8875;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9121;1000g2015aug_all=0.91234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2856,240,0 1 161772095 rs201228457 C A 484.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.339;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.295;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs201228457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=0.0009;ExAC_ALL=0.0023;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0024;ExAC_OTH=0.0013;ExAC_SAS=0.0064;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,18:34:99:513,0,425 1 161822959 rs2340717 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.9235;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9438;1000g2015aug_all=0.966054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 161823011 rs2257107 T A 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.619;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2257107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.4395;1000g2015aug_all=0.400958;esp6500siv2_all=0.4938;ExAC_ALL=0.6184;ExAC_AFR=0.2033;ExAC_AMR=0.4060;ExAC_EAS=0.4452;ExAC_FIN=0.7487;ExAC_NFE=0.6981;ExAC_OTH=0.6819;ExAC_SAS=0.6352;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:192,0,59 1 161832834 rs2340719 G A 238.8 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9409;1000g2015aug_all=0.960863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:21:267,21,0 1 161832842 rs2340720 T G 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-1.2;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2340720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.4395;1000g2015aug_all=0.400559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:181,0,140 1 161833233 rs3767632 G A 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.042;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.215;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2695;1000g2015aug_all=0.232228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:316,0,263 1 161897006 rs10800109 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=intronic;Gene=NM_007348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e286\x3bName\x3e"285052:MIR3(SINE)";avsnp150=rs10800109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.505;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.4885;1000g2015aug_all=0.554513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 161928327 rs9482 A G 1506.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=exonic;Gene=NM_007348;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATF6:NM_007348:exon16:c.A1896G:p.S632S;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558706;esp6500siv2_all=0.6495;ExAC_ALL=0.6540;ExAC_AFR=0.4482;ExAC_AMR=0.3791;ExAC_EAS=0.5405;ExAC_FIN=0.8006;ExAC_NFE=0.7443;ExAC_OTH=0.7097;ExAC_SAS=0.6090;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1535,147,0 1 161928568 rs13401 G A 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATF6;Func=UTR3;Gene=NM_007348;GeneDetail=NM_007348:c.*124G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367942.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7763;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.4928;1000g2015aug_all=0.558706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 161942885 rs12076482 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_007348,NM_001297713;GeneDetail=dist\x3e9025\x3bdist\x3e10097;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12076482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.046;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.0231;1000g2015aug_all=0.109625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 161954365 rs9427066 C G 315.78 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367938.1,ENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.8956;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.7118;1000g2015aug_all=0.789736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:24:344,24,0 1 161954385 rs56084426 A G 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.473;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.89;ReadPosRankSum=-0.456;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367940.2,ENST00000367938.1,ENST00000294794.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56084426;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.1196;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:247,0,134 1 161954448 rs12726227 C T 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.314;DP=23;ExcessHet=3.0103;FS=1.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.273;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367940.2,ENST00000367938.1,ENST00000294794.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12726227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.059;1000g2015aug_amr=0.4236;1000g2015aug_all=0.329673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:311,0,372 1 161967681 rs2499836 A G 1649.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.179;DP=125;ExcessHet=3.0103;FS=2.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.956;SOR=0.488;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=exonic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OLFML2B:NM_001297713:exon6:c.T1411C:p.W471R,OLFML2B:NM_001347700:exon6:c.T1414C:p.W472R,OLFML2B:NM_015441:exon6:c.T1408C:p.W470R;Gencode=Name\x3eENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2499836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.671;1000g2015aug_afr=0.5756;1000g2015aug_amr=0.6816;1000g2015aug_all=0.633187;esp6500siv2_all=0.6542;ExAC_ALL=0.6577;ExAC_AFR=0.6036;ExAC_AMR=0.6784;ExAC_EAS=0.6543;ExAC_FIN=0.6124;ExAC_NFE=0.6806;ExAC_OTH=0.6542;ExAC_SAS=0.6044;SIFT_score=0.341;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-2.06;FATHMM_pred=D;phyloP100way_vertebrate=0.461;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=4.305;gerp++gt2=2.8;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,63:125:99:1678,0,1635 1 161968297 rs12756866 T G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.135;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.6037;1000g2015aug_all=0.51897;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 161969636 rs2499834 T G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e372\x3bName\x3e"285173:MIR3(SINE)";avsnp150=rs2499834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.882;1000g2015aug_amr=0.7622;1000g2015aug_all=0.83147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 161976234 rs12022536 A G 1542.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=exonic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OLFML2B:NM_001297713:exon4:c.T576C:p.N192N,OLFML2B:NM_001347700:exon4:c.T576C:p.N192N,OLFML2B:NM_015441:exon4:c.T576C:p.N192N;Gencode=Name\x3eENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12022536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.7925;1000g2015aug_all=0.590655;esp6500siv2_all=0.7174;ExAC_ALL=0.7328;ExAC_AFR=0.5014;ExAC_AMR=0.8019;ExAC_EAS=0.4770;ExAC_FIN=0.8242;ExAC_NFE=0.8194;ExAC_OTH=0.7361;ExAC_SAS=0.5751;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1571,141,0 1 161980502 rs12025136 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367940.2,ENST00000294794.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12025136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.7237;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.7089;1000g2015aug_all=0.440296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 161980538 rs10218569 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367940.2,ENST00000294794.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e215\x3bName\x3e"285195:MIRb(SINE)";avsnp150=rs10218569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9816;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=1;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 161989418 rs6427645 T C 91.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOLFML2B;Func=intronic;Gene=NM_001297713,NM_001347700,NM_015441;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294794.7,ENST00000367940.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.9424;1000g2015aug_all=0.880791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:119,9,0 1 162040305 rs12096347 C A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.674;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.3429;1000g2015aug_all=0.428514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 162062568 rs7551959 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361897.9,ENST00000530878.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3413;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.549;1000g2015aug_all=0.376597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 162101098 rs885148 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361897.9,ENST00000530878.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs885148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.031;1000g2015aug_amr=0.5274;1000g2015aug_all=0.317692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 162101103 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361897.9,ENST00000530878.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 162123945 rs10918776 G C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.006;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e265\x3bName\x3e"285447:MIR(SINE)";avsnp150=rs10918776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.2326;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.281;1000g2015aug_all=0.384585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 162270055 rs2812136 T C 94.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2812136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973842;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:122,9,0 1 162302635 rs347306 T C 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.707;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs347306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.2549;1000g2015aug_amr=0.4625;1000g2015aug_all=0.345847;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,168 1 162302689 rs347307 C T 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.925;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.578;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs347307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.4582;1000g2015aug_all=0.332867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:326,0,397 1 162313518 rs3751285 A G 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.377;DP=49;ExcessHet=3.0103;FS=3.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.201;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361897.9,ENST00000530878.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3751285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.3934;1000g2015aug_all=0.354433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:566,0,901 1 162313597 rs347278 T C 3763.77 PASS AC=2;AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.377;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs347278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9888;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.761;1000g2015aug_amr=0.9683;1000g2015aug_all=0.925919;esp6500siv2_all=0.9193;ExAC_ALL=0.9656;ExAC_AFR=0.7934;ExAC_AMR=0.9821;ExAC_EAS=1;ExAC_FIN=0.9852;ExAC_NFE=0.9795;ExAC_OTH=0.9802;ExAC_SAS=0.9800;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,115:115:99:3792,345,0 1 162313735 rs3751284 C T 1966.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=151;ExcessHet=3.0103;FS=1.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.065;SOR=0.806;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=exonic;Gene=NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3751284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6339;1000g2015aug_sas=0.4857;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.451;1000g2015aug_all=0.430911;esp6500siv2_all=0.3343;ExAC_ALL=0.4072;ExAC_AFR=0.2887;ExAC_AMR=0.4933;ExAC_EAS=0.6054;ExAC_FIN=0.4665;ExAC_NFE=0.3647;ExAC_OTH=0.4339;ExAC_SAS=0.4646;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,79:151:99:1995,0,1836 1 162335424 rs1964052 T C 1306.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001126060,NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000493151.1,ENST00000361897.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1964052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.7795;1000g2015aug_all=0.719249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1335,102,0 1 162335500 rs348623 T C 238.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.11;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNOS1AP;Func=intronic;Gene=NM_001126060,NM_001164757,NM_014697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000530878.5,ENST00000361897.9,ENST00000493151.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs348623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.969;1000g2015aug_amr=0.9971;1000g2015aug_all=0.991414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:267,21,0 1 162344390 rs164159 A G 2828.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=3.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=exonic;Gene=NM_182581;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPATA46:NM_182581:exon3:c.T234C:p.D78D;Gencode=Name\x3eENST00000620601.1,ENST00000367932.3,ENST00000367935.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9971;1000g2015aug_all=0.996206;esp6500siv2_all=0.9955;ExAC_ALL=0.9989;ExAC_AFR=0.9880;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2857,226,0 1 162344558 rs164180 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=intronic;Gene=NM_182581;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620601.1,ENST00000367932.3,ENST00000367935.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.196;1000g2015aug_all=0.197284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 162345091 rs164181 G A 1418.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=exonic;Gene=NM_182581;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA46:NM_182581:exon2:c.C206T:p.A69V;Gencode=Name\x3eENST00000620601.1,ENST00000367935.9,ENST00000367932.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.9755;1000g2015aug_all=0.938498;esp6500siv2_all=0.9353;ExAC_ALL=0.9788;ExAC_AFR=0.8164;ExAC_AMR=0.9915;ExAC_EAS=1;ExAC_FIN=0.9986;ExAC_NFE=0.9937;ExAC_OTH=0.9791;ExAC_SAS=0.9932;SIFT_score=0.926;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.431;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.195;MutationAssessor_pred=N;FATHMM_score=1.6;FATHMM_pred=T;phyloP100way_vertebrate=-0.090;phyloP20way_mammalian=-1.337;SiPhy_29way_logOdds=7.416;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1447,126,0 1 162345199 rs164182 T G 1462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.18;DP=121;ExcessHet=3.0103;FS=0.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.19;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=intronic;Gene=NM_182581;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367935.9,ENST00000367932.3,ENST00000620601.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0371406;esp6500siv2_all=0.0912;ExAC_ALL=0.0965;ExAC_AFR=0.0236;ExAC_AMR=0.0597;ExAC_EAS=0;ExAC_FIN=0.1329;ExAC_NFE=0.1367;ExAC_OTH=0.1060;ExAC_SAS=0.0416;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,57:121:99:1491,0,1613 1 162345294 rs3737312 G T 2052.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.743;DP=133;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.639;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=intronic;Gene=NM_182581;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367935.9,ENST00000367932.3,ENST00000620601.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1865;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2061;1000g2015aug_all=0.189497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,76:133:99:2081,0,1402 1 162345472 rs164183 C T 422.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.04;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=intronic;Gene=NM_182581;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620601.1,ENST00000367932.3,ENST00000367935.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.9755;1000g2015aug_all=0.937899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:451,36,0 1 162345629 rs164184 C T 104.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf111;Func=intronic;Gene=NM_182581;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367932.3,ENST00000367935.9,ENST00000620601.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.9755;1000g2015aug_all=0.937899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:132,12,0 1 162348637 rs164187 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.398;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001135240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426197.2,ENST00000367932.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1063;1000g2015aug_eur=0.1928;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.1153;1000g2015aug_all=0.10643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,147 1 162348662 rs164188 C T 428.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001135240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426197.2,ENST00000367932.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9841;1000g2015aug_amr=1;1000g2015aug_all=0.995807;esp6500siv2_all=0.9952;ExAC_ALL=0.9986;ExAC_AFR=0.9884;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:457,36,0 1 162351586 rs901662 G A 873.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.198;DP=58;ExcessHet=3.0103;FS=1.286;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.226;SOR=1.008;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=UTR5;Gene=NM_001085375;GeneDetail=NM_001085375:c.-106G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458626.3,ENST00000426197.2,ENST00000367932.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs901662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.118;1000g2015aug_amr=0.1844;1000g2015aug_all=0.196086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,30:58:99:902,0,825 1 162352111 rs164189 G A 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.262;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.19;ReadPosRankSum=-0.424;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=intronic;Gene=NM_001085375,NM_001135240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458626.3,ENST00000367932.3,ENST00000426197.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e204\x3bName\x3e"285853:L3(LINE)";avsnp150=rs164189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.507;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.4035;1000g2015aug_all=0.38758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,7:25:99:183,0,574 1 162352163 rs7531449 G A 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.986;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.327;SOR=0.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=intronic;Gene=NM_001085375,NM_001135240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458626.3,ENST00000367932.3,ENST00000426197.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.1844;1000g2015aug_all=0.196086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:99:280,0,122 1 162352941 rs11806859 G A 876.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.05;DP=61;ExcessHet=3.0103;FS=1.122;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-1.27;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=intronic;Gene=NM_001085375,NM_001135240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367932.3,ENST00000426197.2,ENST00000458626.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11806859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.2378;1000g2015aug_all=0.214257;esp6500siv2_all=0.2192;ExAC_ALL=0.2565;ExAC_AFR=0.0964;ExAC_AMR=0.2164;ExAC_EAS=0.2050;ExAC_FIN=0.2611;ExAC_NFE=0.2832;ExAC_OTH=0.2481;ExAC_SAS=0.3338;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,31:61:99:905,0,870 1 162353726 rs164417 T C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.967;SOR=2.225;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=UTR3;Gene=NM_001085375;GeneDetail=NM_001085375:c.*253T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458626.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.572;1000g2015aug_all=0.598243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:70,0,33 1 162354525 rs164419 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf226;Func=UTR3;Gene=NM_001085375;GeneDetail=NM_001085375:c.*1052A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458626.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9932;1000g2015aug_amr=1;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 162367235 rs164124 G A 488.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D1B;Func=intronic;Gene=NM_053282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367929.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.663;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.6816;1000g2015aug_all=0.58726;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 162369140 rs348625 G C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D1B;Func=intronic;Gene=NM_053282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367929.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs348625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9894;1000g2015aug_amr=1;1000g2015aug_all=0.997204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 162372718 rs3121196 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D1B;Func=intronic;Gene=NM_053282;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367929.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1319\x3bName\x3e"285883:AluSx1(SINE)";avsnp150=rs3121196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8413;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.8242;1000g2015aug_all=0.879593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 162381833 rs12745630 C G 976.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.387;DP=148;ExcessHet=3.0103;FS=2.265;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.6;ReadPosRankSum=0.54;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSH2D1B;Func=UTR5;Gene=NM_053282;GeneDetail=NM_053282:c.-27G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367929.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12745630;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.2378;1000g2015aug_all=0.193091;esp6500siv2_all=0.2250;ExAC_ALL=0.2684;ExAC_AFR=0.0701;ExAC_AMR=0.2324;ExAC_EAS=0.1898;ExAC_FIN=0.3215;ExAC_NFE=0.3045;ExAC_OTH=0.2522;ExAC_SAS=0.2935;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:103,45:148:99:1005,0,2960 1 162546863 rs12129762 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.608;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUAP1;Func=intronic;Gene=NM_001324113,NM_001324114,NM_001324115,NM_001324116,NM_001324117,NM_003115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271469.7,ENST00000367926.8,ENST00000367924.1,ENST00000367925.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0547125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,220 1 162557578 rs41271987 C T 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.917;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=1.369;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUAP1;Func=intronic;Gene=NM_001324113,NM_001324114,NM_001324115,NM_001324116,NM_001324117,NM_003115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367925.5,ENST00000367924.1,ENST00000367926.8,ENST00000271469.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41271987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.1052;1000g2015aug_all=0.0738818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:260,0,167 1 162558705 rs12022205 C T 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.328;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=1.368;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUAP1;Func=intronic;Gene=NM_001324113,NM_001324114,NM_001324115,NM_001324116,NM_001324117,NM_003115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271469.7,ENST00000367926.8,ENST00000367925.5,ENST00000367924.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12022205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2336;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.3184;1000g2015aug_all=0.228435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,112 1 162562775 rs1510267 A G 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=-0.992;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUAP1;Func=intronic;Gene=NM_001324113,NM_001324114,NM_001324115,NM_001324116,NM_001324117,NM_003115;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367925.5,ENST00000367924.1,ENST00000271469.7,ENST00000367926.8;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1510267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.7565;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.8458;1000g2015aug_all=0.727636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:211,0,98 1 162722846 rs1632311 C G 2369.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=3.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1632311;cosmic70=.;CLNALLELEID=249489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8918;1000g2015aug_amr=0.9942;1000g2015aug_all=0.970447;esp6500siv2_all=0.9730;ExAC_ALL=0.9923;ExAC_AFR=0.9159;ExAC_AMR=0.9967;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9956;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2398,195,0 1 162725655 rs1115570 A C 630.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.28;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e185\x3bName\x3e"286670:L2c(LINE)";avsnp150=rs1115570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9603;1000g2015aug_sas=0.9857;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.9784;1000g2015aug_all=0.927915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:659,48,0 1 162731404 rs2684867 C T 766.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7,ENST00000367921.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2684867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.9942;1000g2015aug_all=0.971246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:795,60,0 1 162736856 rs1533083 C A 283.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1533083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9914;1000g2015aug_all=0.96885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:312,21,0 1 162737116 rs2298258 C G 543.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.103;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.224;SOR=0.592;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=exonic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDR2:NM_006182:exon11:c.C1260G:p.L420L,DDR2:NM_001014796:exon12:c.C1260G:p.L420L;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298258;cosmic70=.;CLNALLELEID=249492;CLNDN=Spondyloepimetaphyseal_dysplasia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002651,MedGen:C0432211|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.353;1000g2015aug_all=0.348442;esp6500siv2_all=0.2573;ExAC_ALL=0.2242;ExAC_AFR=0.4707;ExAC_AMR=0.4188;ExAC_EAS=0.4040;ExAC_FIN=0.0683;ExAC_NFE=0.1341;ExAC_OTH=0.1817;ExAC_SAS=0.2673;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,23:50:99:572,0,702 1 162737338 rs1039875 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7,ENST00000367921.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1039875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 162740327 rs1780003 T C 3937.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=1.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1780003;cosmic70=.;CLNALLELEID=249493;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=0.9476;ExAC_ALL=0.9855;ExAC_AFR=0.8452;ExAC_AMR=0.9929;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9992;ExAC_OTH=0.9911;ExAC_SAS=0.9995;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.39;FATHMM_pred=T;phyloP100way_vertebrate=-1.387;phyloP20way_mammalian=-2.869;SiPhy_29way_logOdds=0.572;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:3966,389,0 1 162742180 rs1704762 T C 1801.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=2.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7,ENST00000367921.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1704762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1830,156,0 1 162743418 rs1355287 G T 664.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1355287;cosmic70=.;CLNALLELEID=249495;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.972;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992412;esp6500siv2_all=0.9948;ExAC_ALL=0.9986;ExAC_AFR=0.9844;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:62:693,62,0 1 162748147 rs1848861 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7,ENST00000367921.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1848861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 162748588 rs907074 C A 1706.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=2.511;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367921.7,ENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs907074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9914;1000g2015aug_all=0.96885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1735,138,0 1 162749761 rs1510315 T C 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDR2;Func=intronic;Gene=NM_001014796,NM_006182;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7,ENST00000367921.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1510315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 162754049 rs11338 G A 189.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.57;MQRankSum=-0.18;QD=27.11;ReadPosRankSum=1.465;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001014796,NM_001304512;GeneDetail=dist\x3e3802\x3bdist\x3e6443;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367922.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs11338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5764;1000g2015aug_sas=0.6605;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.5648;1000g2015aug_all=0.53135;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:218,0,21 1 162760551 rs1704754 C T 2542.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.413;DP=208;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.8;MQRankSum=0.798;QD=12.22;ReadPosRankSum=-0.07;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=UTR5;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=NM_001304512:c.-40C>T\x3bNM_001304513:c.-40C>T\x3bNM_016371:c.-40C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367915.1,ENST00000254521.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs1704754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5764;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.562;1000g2015aug_all=0.53135;esp6500siv2_all=.;ExAC_ALL=0.7140;ExAC_AFR=0.2828;ExAC_AMR=0.5221;ExAC_EAS=0.6193;ExAC_FIN=0.8599;ExAC_NFE=0.8165;ExAC_OTH=0.7640;ExAC_SAS=0.6895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:110,98:208:99:2571,0,2913 1 162760554 rs1780010 T C 7932.77 PASS AC=2;AF=1;AN=2;DP=210;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.09;QD=23.35;SOR=1.374;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=UTR5;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=NM_001304512:c.-37T>C\x3bNM_001304513:c.-37T>C\x3bNM_016371:c.-37T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367915.1,ENST00000254521.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs1780010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945887;esp6500siv2_all=.;ExAC_ALL=0.9807;ExAC_AFR=0.8086;ExAC_AMR=0.9888;ExAC_EAS=0.9991;ExAC_FIN=0.9964;ExAC_NFE=0.9979;ExAC_OTH=0.9890;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,210:210:99:7961,637,0 1 162765475 rs2684884 G C 495.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.99;QD=29.16;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=intronic;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367913.1,ENST00000254521.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs2684884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945687;esp6500siv2_all=.;ExAC_ALL=0.9868;ExAC_AFR=0.7882;ExAC_AMR=0.9713;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9937;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:524,51,0 1 162766476 rs1780019 C T 1504.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.359;DP=131;ExcessHet=3.0103;FS=13.331;MLEAC=1;MLEAF=0.5;MQ=59.71;MQRankSum=-1.632;QD=11.49;ReadPosRankSum=0.933;SOR=1.669;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=intronic;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000254521.7,ENST00000367913.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs1780019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.5692;1000g2015aug_all=0.534145;esp6500siv2_all=0.6250;ExAC_ALL=0.6990;ExAC_AFR=0.2934;ExAC_AMR=0.5024;ExAC_EAS=0.5739;ExAC_FIN=0.8478;ExAC_NFE=0.8011;ExAC_OTH=0.7566;ExAC_SAS=0.6827;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,56:131:99:1533,0,1917 1 162766810 rs1780018 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.39;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=intronic;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000254521.7,ENST00000367913.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs1780018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 162766821 rs1780017 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=intronic;Gene=NM_001304512,NM_001304513,NM_016371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000254521.7,ENST00000367913.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs1780017;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 162775267 rs12563263 C T 355.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.132;DP=28;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=53.36;MQRankSum=-0.132;QD=12.71;ReadPosRankSum=-1.494;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD17B7;Func=exonic;Gene=NM_016371;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HSD17B7:NM_016371:exon8:c.C888T:p.Y296Y;Gencode=Name\x3eENST00000254521.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.981865\x3bName\x3echr10:38348577;Repeat=.;avsnp150=rs12563263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.2536;1000g2015aug_all=0.182907;esp6500siv2_all=0.2746;ExAC_ALL=0.2732;ExAC_AFR=0.1750;ExAC_AMR=0.2324;ExAC_EAS=0.1776;ExAC_FIN=0.3553;ExAC_NFE=0.3298;ExAC_OTH=0.3091;ExAC_SAS=0.1489;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:384,0,399 1 162822771 rs2684878 A C 620.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016371,NM_178550;GeneDetail=dist\x3e40163\x3bdist\x3e1316;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367912.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2684878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.771;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.7594;1000g2015aug_all=0.772963;esp6500siv2_all=.;ExAC_ALL=0.8511;ExAC_AFR=0.8119;ExAC_AMR=0.796;ExAC_EAS=0.5884;ExAC_FIN=0.9171;ExAC_NFE=0.9200;ExAC_OTH=0.8625;ExAC_SAS=0.7920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:649,54,0 1 162823107 rs17435851 T A 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.801;DP=23;ExcessHet=3.0103;FS=4.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=-1.544;SOR=1.965;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_178550;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367912.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e447\x3bName\x3e"286828:MIRb(SINE)";avsnp150=rs17435851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.1037;1000g2015aug_all=0.120807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:447,0,239 1 162825258 rs12036026 T C 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.184;DP=68;ExcessHet=3.0103;FS=12.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.949;SOR=1.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC190;Func=intronic;Gene=NM_178550;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367911.3,ENST00000367910.5,ENST00000367912.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12036026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.1138;1000g2015aug_all=0.129792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,29:68:99:808,0,963 1 163014483 rs2661334 C A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_178550,NM_001102445;GeneDetail=dist\x3e175878\x3bdist\x3e23913;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2661334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.7658;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.8977;1000g2015aug_all=0.836062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 163038613 rs7515900 C A 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.85;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS4;Func=UTR5;Gene=NM_001102445;GeneDetail=NM_001102445:c.-112C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421743.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.5235;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.3847;1000g2015aug_all=0.454872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 163038853 rs10917671 G A 926.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=2.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS4;Func=UTR5;Gene=NM_005613;GeneDetail=NM_005613:c.-422G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421743.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.3847;1000g2015aug_all=0.455671;esp6500siv2_all=0.4373;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:955,84,0 1 163043088 rs10799897 A G 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.263;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.974;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS4;Func=intronic;Gene=NM_001102445,NM_001113380,NM_001113381,NM_005613;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000527809.5,ENST00000367906.7,ENST00000367908.8,ENST00000367909.10,ENST00000421743.6,ENST00000531057.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.495;1000g2015aug_afr=0.6203;1000g2015aug_amr=0.4524;1000g2015aug_all=0.541134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:161,0,410 1 163117351 rs3768560 G T 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.447;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS5;Func=intronic;Gene=NM_001195303,NM_001254748,NM_001254749,NM_003617;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000313961.9,ENST00000530507.5,ENST00000367903.7,ENST00000527988.1,ENST00000618415.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.1664;1000g2015aug_amr=0.5216;1000g2015aug_all=0.375799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:634,0,571 1 163122528 rs1354939 G C 334.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS5;Func=intronic;Gene=NM_001195303,NM_001254748,NM_001254749,NM_003617;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618415.4,ENST00000527988.1,ENST00000367903.7,ENST00000313961.9,ENST00000530507.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1354939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.7205;1000g2015aug_all=0.557508;esp6500siv2_all=0.5134;ExAC_ALL=0.6454;ExAC_AFR=0.2893;ExAC_AMR=0.7952;ExAC_EAS=0.6320;ExAC_FIN=0.7647;ExAC_NFE=0.6447;ExAC_OTH=0.6591;ExAC_SAS=0.7192;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:363,27,0 1 163142168 rs10917690 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928404,RGS5;Func=ncRNA_intronic;Gene=NR_110699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367903.7,ENST00000527988.1,ENST00000618415.4,ENST00000530507.5,ENST00000313961.9,ENST00000415437.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e278\x3bName\x3e"287409:Tigger16b(DNA)";avsnp150=rs10917690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.2968;1000g2015aug_all=0.28774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 163142537 rs10917691 G A 262.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.982;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.849;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928404,RGS5;Func=ncRNA_intronic;Gene=NR_110699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618415.4,ENST00000527988.1,ENST00000367903.7,ENST00000313961.9,ENST00000415437.1,ENST00000530507.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10917691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.4856;1000g2015aug_all=0.334065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:291,0,181 1 163142555 rs12035879 G A 426.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS5,LOC101928404;Func=ncRNA_intronic;Gene=NR_110699;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618415.4,ENST00000367903.7,ENST00000527988.1,ENST00000530507.5,ENST00000415437.1,ENST00000313961.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12035879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eLiver_enzyme_levels_(alanine_transaminase);1000g2015aug_eas=0.3988;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.4524;1000g2015aug_all=0.322684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:455,36,0 1 163187263 rs2814368 G A 262.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS5;Func=intronic;Gene=NM_001254748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367903.7,ENST00000618415.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2814368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.672;1000g2015aug_afr=0.9758;1000g2015aug_amr=0.6023;1000g2015aug_all=0.701877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:291,21,0 1 163295678 rs6660538 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524800.5,ENST00000367900.7,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.6037;1000g2015aug_all=0.55651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 163297550 rs3817126 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367900.7,ENST00000524800.5,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3817126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.6023;1000g2015aug_all=0.555711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 163306370 rs2055747 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271452.7,ENST00000367900.7,ENST00000524800.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2055747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3522;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4352;1000g2015aug_all=0.428714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 163307944 rs2175015 T C 737.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524800.5,ENST00000367900.7,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2175015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4352;1000g2015aug_all=0.428514;esp6500siv2_all=0.4074;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:77:766,77,0 1 163309219 rs1509022 A T 511.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=exonic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NUF2:NM_031423:exon8:c.A558T:p.G186G,NUF2:NM_145697:exon8:c.A558T:p.G186G;Gencode=Name\x3eENST00000367900.7,ENST00000524800.5,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1509022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4352;1000g2015aug_all=0.428514;esp6500siv2_all=0.4169;ExAC_ALL=0.4412;ExAC_AFR=0.3389;ExAC_AMR=0.3935;ExAC_EAS=0.3127;ExAC_FIN=0.3764;ExAC_NFE=0.4532;ExAC_OTH=0.4460;ExAC_SAS=0.5838;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:540,51,0 1 163309274 rs3762433 G A 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.21;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.183;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271452.7,ENST00000367900.7,ENST00000524800.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0603035;esp6500siv2_all=0.0328;ExAC_ALL=0.0537;ExAC_AFR=0.0142;ExAC_AMR=0.1037;ExAC_EAS=0.0673;ExAC_FIN=0.0428;ExAC_NFE=0.0424;ExAC_OTH=0.0499;ExAC_SAS=0.0866;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,12:16:85:283,0,85 1 163309302 rs2999852 C T 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000524800.5,ENST00000367900.7,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2999852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9722;1000g2015aug_sas=0.9734;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.9236;1000g2015aug_all=0.890176;esp6500siv2_all=0.8829;ExAC_ALL=0.9388;ExAC_AFR=0.7265;ExAC_AMR=0.9169;ExAC_EAS=0.9805;ExAC_FIN=0.9715;ExAC_NFE=0.9587;ExAC_OTH=0.9591;ExAC_SAS=0.9694;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 163315350 rs10753611 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271452.7,ENST00000524800.5,ENST00000367900.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4352;1000g2015aug_all=0.428514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 163318934 rs17358956 A C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.465;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-1.006;SOR=0.086;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUF2;Func=intronic;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367900.7,ENST00000524800.5,ENST00000271452.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17358956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.087;1000g2015aug_amr=0.072;1000g2015aug_all=0.114417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,146 1 163325929 rs2036697 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_031423,NM_145697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e374\x3bName\x3e"287755:MIR(SINE)";avsnp150=rs2036697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4352;1000g2015aug_all=0.428514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 164042906 rs10799980 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e650478\x3bdist\x3e485691;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13373\x3bName\x3e"288942:L1MA1(LINE)";avsnp150=rs10799980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.8449;1000g2015aug_afr=0.528;1000g2015aug_amr=0.7003;1000g2015aug_all=0.647165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 164295889 rs17370732 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e903461\x3bdist\x3e232708;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17370732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0435304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 164312089 rs1416434 C G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e919661\x3bdist\x3e216508;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1416434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.2695;1000g2015aug_all=0.294329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,120 1 164312091 rs984884 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e919663\x3bdist\x3e216506;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs984884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.3732;1000g2015aug_all=0.338458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:75:110,0,75 1 164326589 rs34663453 T G 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.652;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e934161\x3bdist\x3e202008;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.929825\x3bName\x3echr9:36302680;Repeat=Score\x3e20\x3bName\x3e"289362:GA-rich(Low_complexity)";avsnp150=rs34663453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.1354;1000g2015aug_all=0.157748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:145,0,104 1 164464618 rs10918014 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104294,NM_001204963;GeneDetail=dist\x3e1072190\x3bdist\x3e63979;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2255\x3bName\x3e"289652:AluSx(SINE)";avsnp150=rs10918014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1796;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.7799;1000g2015aug_amr=0.4222;1000g2015aug_all=0.535942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 164529120 rs2275558 G A 425.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.114;DP=32;ExcessHet=3.0103;FS=3.764;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.305;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=exonic;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PBX1:NM_001204961:exon1:c.G61A:p.G21S,PBX1:NM_001204963:exon1:c.G61A:p.G21S,PBX1:NM_002585:exon1:c.G61A:p.G21S;Gencode=Name\x3eENST00000367897.5,ENST00000627490.2,ENST00000420696.6,ENST00000485769.5,ENST00000559240.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.4308;1000g2015aug_all=0.307308;esp6500siv2_all=0.1381;ExAC_ALL=0.2977;ExAC_AFR=0.0485;ExAC_AMR=0.4122;ExAC_EAS=0.6226;ExAC_FIN=0.3235;ExAC_NFE=0.2525;ExAC_OTH=0.3056;ExAC_SAS=0.3735;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.054;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.04;MutationAssessor_pred=L;FATHMM_score=0.79;FATHMM_pred=T;phyloP100way_vertebrate=8.010;phyloP20way_mammalian=1.043;SiPhy_29way_logOdds=11.031;gerp++gt2=5.18;CADD=2.102;CADD_Phred=16.87;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:454,0,346 1 164529666 rs2275560 G A 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=intronic;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420696.6,ENST00000627490.2,ENST00000367897.5,ENST00000559240.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.2752;1000g2015aug_all=0.352835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:95:95,0,95 1 164559536 rs1780335 A G 490.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.581;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=2.376;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=intronic;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420696.6,ENST00000367897.5,ENST00000627490.2,ENST00000559240.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1780335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.6455;1000g2015aug_all=0.570288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,16:23:99:519,0,223 1 164652000 rs2800801 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=intronic;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367897.5,ENST00000627490.2,ENST00000420696.6,ENST00000559240.5,ENST00000560641.5;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2800801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.9294;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.9294;1000g2015aug_all=0.848642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 164789444 rs1538488 A G 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=intronic;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540236.3,ENST00000560641.5,ENST00000559240.5,ENST00000612123.3,ENST00000420696.6,ENST00000367897.5,ENST00000627490.2;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1538488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9998;ExAC_ALL=0.9998;ExAC_AFR=0.9993;ExAC_AMR=0.9997;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 164818907 rs1213289 C T 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePBX1;Func=UTR3;Gene=NM_001204961,NM_001204963,NM_002585;GeneDetail=NM_001204961:c.*3130C>T\x3bNM_001204963:c.*268C>T\x3bNM_002585:c.*2994C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612123.3,ENST00000420696.6,ENST00000627490.2,ENST00000540236.3;cytoBand=1q23.3;wgRna=.;genomicSuperDups=Score\x3e0.948498\x3bName\x3echr15:36399255;Repeat=.;avsnp150=rs1213289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.792;1000g2015aug_amr=0.9856;1000g2015aug_all=0.943091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 164926653 rs10800060 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e105593\x3bdist\x3e244451;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e780\x3bName\x3e"290418:L1ME1(LINE)";avsnp150=rs10800060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.8919;1000g2015aug_all=0.872804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 164926656 rs10800061 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e105596\x3bdist\x3e244448;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e780\x3bName\x3e"290418:L1ME1(LINE)";avsnp150=rs10800061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9425;1000g2015aug_sas=0.9499;1000g2015aug_eur=0.9374;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.8948;1000g2015aug_all=0.847244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165018496 rs12058573 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e197436\x3bdist\x3e152608;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12058573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.4409;1000g2015aug_all=0.2502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165018925 rs4657394 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e197865\x3bdist\x3e152179;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.8119;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.8559;1000g2015aug_all=0.722444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165051974 rs12564912 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e230914\x3bdist\x3e119130;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2284\x3bName\x3e"290668:AluSp(SINE)";avsnp150=rs12564912;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.5101;1000g2015aug_all=0.409345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 165086620 rs4657398 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e265560\x3bdist\x3e84484;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.5859;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.4942;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165086665 rs4657399 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204963,NM_177398;GeneDetail=dist\x3e265605\x3bdist\x3e84439;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.295;1000g2015aug_amr=0.4942;1000g2015aug_all=0.539537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165173216 rs1354509 A G 4534.77 PASS AC=2;AF=1;AN=2;DP=137;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=1.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=exonic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LMX1A:NM_001174069:exon9:c.T1050C:p.D350D,LMX1A:NM_177398:exon9:c.T1050C:p.D350D;Gencode=Name\x3eENST00000367893.4,ENST00000342310.7,ENST00000294816.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1354509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9955;1000g2015aug_amr=1;1000g2015aug_all=0.998802;esp6500siv2_all=0.9992;ExAC_ALL=0.9997;ExAC_AFR=0.9963;ExAC_AMR=0.9997;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,137:137:99:4563,411,0 1 165174959 rs16841013 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=intronic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367893.4,ENST00000342310.7,ENST00000294816.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16841013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.2644;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.3804;1000g2015aug_all=0.280152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 165179697 rs1532814 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=intronic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000342310.7,ENST00000367893.4,ENST00000294816.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1532814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9955;1000g2015aug_amr=1;1000g2015aug_all=0.998802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 165218533 rs12747984 A G 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.415;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=intronic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294816.6,ENST00000342310.7,ENST00000367893.4;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12747984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.353;1000g2015aug_all=0.32488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 165218679 rs9970062 C T 1037.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.602;DP=72;ExcessHet=3.0103;FS=2.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.828;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=exonic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LMX1A:NM_001174069:exon4:c.G462A:p.L154L,LMX1A:NM_177398:exon4:c.G462A:p.L154L;Gencode=Name\x3eENST00000294816.6,ENST00000367893.4,ENST00000342310.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.2032;1000g2015aug_all=0.216853;esp6500siv2_all=0.2972;ExAC_ALL=0.2455;ExAC_AFR=0.2892;ExAC_AMR=0.1456;ExAC_EAS=0.0885;ExAC_FIN=0.2516;ExAC_NFE=0.2933;ExAC_OTH=0.2561;ExAC_SAS=0.1744;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,37:72:99:1066,0,1041 1 165218792 rs10753668 G A 1354.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.788;DP=121;ExcessHet=3.0103;FS=2.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-1.271;SOR=0.705;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=exonic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LMX1A:NM_001174069:exon4:c.C349T:p.L117L,LMX1A:NM_177398:exon4:c.C349T:p.L117L;Gencode=Name\x3eENST00000294816.6,ENST00000367893.4,ENST00000342310.7;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5605;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.1263;1000g2015aug_amr=0.3545;1000g2015aug_all=0.324681;esp6500siv2_all=0.2151;ExAC_ALL=0.3039;ExAC_AFR=0.1491;ExAC_AMR=0.4013;ExAC_EAS=0.5618;ExAC_FIN=0.3096;ExAC_NFE=0.2535;ExAC_OTH=0.2753;ExAC_SAS=0.4012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,55:121:99:1383,0,1952 1 165295207 rs10800087 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMX1A;Func=intronic;Gene=NM_001174069,NM_177398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367893.4,ENST00000342310.7,ENST00000294816.6;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.634;1000g2015aug_all=0.575879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 165331790 rs55988504 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_177398,NM_001256570;GeneDetail=dist\x3e5838\x3bdist\x3e38369;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55988504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.1671;1000g2015aug_all=0.134185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 165370757 rs283690 G A 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.039;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-0.1;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs283690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6124;1000g2015aug_all=0.699481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:375,0,242 1 165372735 rs380518 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs380518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.7997;1000g2015aug_all=0.850839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165375835 rs283698 A G 1437.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"291222:L2a(LINE)";avsnp150=rs283698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.911;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.83;1000g2015aug_all=0.872005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1466,120,0 1 165375895 rs283697 A C 2203.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=2.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"291222:L2a(LINE)";avsnp150=rs283697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.911;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.83;1000g2015aug_all=0.872005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2232,189,0 1 165376043 rs283696 T C 3517.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=0.856;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs283696;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.911;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.83;1000g2015aug_all=0.872005;esp6500siv2_all=0.8134;ExAC_ALL=0.8290;ExAC_AFR=0.8750;ExAC_AMR=0.8377;ExAC_EAS=0.9255;ExAC_FIN=0.8750;ExAC_NFE=0.7847;ExAC_OTH=0.8414;ExAC_SAS=0.9035;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3546,312,0 1 165377389 rs283692 T C 704.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs283692;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9864;1000g2015aug_amr=1;1000g2015aug_all=0.996206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:733,60,0 1 165377552 rs2134095 G A 944.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.259;DP=85;ExcessHet=3.0103;FS=0.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.925;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=exonic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RXRG:NM_001256571:exon7:c.C681T:p.V227V,RXRG:NM_006917:exon8:c.C1050T:p.V350V,RXRG:NM_001256570:exon9:c.C681T:p.V227V;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2134095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.502;1000g2015aug_eur=0.671;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.6023;1000g2015aug_all=0.478834;esp6500siv2_all=0.5544;ExAC_ALL=0.6105;ExAC_AFR=0.2962;ExAC_AMR=0.6059;ExAC_EAS=0.5311;ExAC_FIN=0.6583;ExAC_NFE=0.6868;ExAC_OTH=0.6200;ExAC_SAS=0.5250;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,40:85:99:973,0,1147 1 165378733 . C * 1272.77 PASS AC=1;AF=0.5;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.87;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e34\x3bName\x3e"291226:(AC)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,22:30:99:1301,341,267 1 165378733 rs12406497 C T 1272.77 PASS AC=1;AF=0.5;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.87;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e34\x3bName\x3e"291226:(AC)n(Simple_repeat)";avsnp150=rs12406497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.5;1000g2015aug_eur=0.503;1000g2015aug_afr=0.351;1000g2015aug_amr=0.4885;1000g2015aug_all=0.451677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,8:30:99:1301,915,922 1 165378735 rs138671935 C T 106.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.502;DP=33;ExcessHet=3.0103;FS=4.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=0.619;SOR=1.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619224.1,ENST00000359842.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e34\x3bName\x3e"291226:(AC)n(Simple_repeat)";avsnp150=rs138671935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,7:33:99:135,0,903 1 165386158 rs2281985 T C 598.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619224.1,ENST00000359842.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.379;1000g2015aug_all=0.391973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 165386567 rs2281986 C T 731.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359842.9,ENST00000619224.1;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.23;1000g2015aug_amr=0.379;1000g2015aug_all=0.391573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:760,57,0 1 165386650 rs190800 G T 81.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=intronic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000619224.1,ENST00000359842.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs190800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:109,9,0 1 165389129 rs1128977 G A 2945.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRXRG;Func=exonic;Gene=NM_001256570,NM_001256571,NM_006917;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RXRG:NM_001256571:exon2:c.C51T:p.A17A,RXRG:NM_006917:exon3:c.C420T:p.A140A,RXRG:NM_001256570:exon4:c.C51T:p.A17A;Gencode=Name\x3eENST00000619224.1,ENST00000359842.9;cytoBand=1q23.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1128977;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.2637;1000g2015aug_all=0.227436;esp6500siv2_all=0.2969;ExAC_ALL=0.3395;ExAC_AFR=0.1095;ExAC_AMR=0.2411;ExAC_EAS=0.1409;ExAC_FIN=0.4781;ExAC_NFE=0.4005;ExAC_OTH=0.3620;ExAC_SAS=0.3539;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2974,261,0 1 165510290 rs166949 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC400794;Func=ncRNA_intronic;Gene=NR_026744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438275.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs166949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.9539;1000g2015aug_all=0.919129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165510312 rs927844 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC400794;Func=ncRNA_intronic;Gene=NR_026744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438275.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs927844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.829;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.7925;1000g2015aug_all=0.717053;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165513439 rs285446 A C 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC400794;Func=ncRNA_intronic;Gene=NR_026744;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438275.5,ENST00000294818.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs285446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.9553;1000g2015aug_all=0.925319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 165601215 rs4147595 G C 689.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGST3;Func=intronic;Gene=NM_004528;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8,ENST00000367884.6,ENST00000367885.5,ENST00000367889.7;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.7133;1000g2015aug_all=0.737021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:718,54,0 1 165601365 rs4147596 T C 2815.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGST3;Func=intronic;Gene=NM_004528;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367889.7,ENST00000367885.5,ENST00000367884.6,ENST00000367888.8,ENST00000367883.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4147596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.455;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.5058;1000g2015aug_all=0.447684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,92:92:99:2844,276,0 1 165601466 rs9333378 G A 2134.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGST3;Func=intronic;Gene=NM_004528;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8,ENST00000367883.3,ENST00000367885.5,ENST00000367889.7,ENST00000367884.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9333378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.326;1000g2015aug_amr=0.6844;1000g2015aug_all=0.651558;esp6500siv2_all=0.5363;ExAC_ALL=0.6702;ExAC_AFR=0.3774;ExAC_AMR=0.7710;ExAC_EAS=0.9754;ExAC_FIN=0.6295;ExAC_NFE=0.6264;ExAC_OTH=0.6891;ExAC_SAS=0.7777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2163,204,0 1 165619424 rs9333468 G T 841.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGST3;Func=intronic;Gene=NM_004528;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367883.3,ENST00000367888.8,ENST00000627653.1,ENST00000367884.6,ENST00000367885.5,ENST00000367889.7;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9333468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8549;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.8718;1000g2015aug_all=0.922125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:870,75,0 1 165624799 rs8133 G T 364.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGST3;Func=UTR3;Gene=NM_004528;GeneDetail=NM_004528:c.*58G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367889.7,ENST00000367885.5,ENST00000367884.6,ENST00000627653.1,ENST00000367888.8,ENST00000367883.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.495;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.2723;1000g2015aug_all=0.253395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:393,33,0 1 165628587 rs35620801 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004528,NM_000696;GeneDetail=dist\x3e3215\x3bdist\x3e2862;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1731\x3bName\x3e"291752:AluJr(SINE)";avsnp150=rs35620801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.6899;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.7781;1000g2015aug_all=0.823682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165630372 rs7554409 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_004528,NM_000696;GeneDetail=dist\x3e5000\x3bdist\x3e1077;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1908\x3bName\x3e"291756:MER21A(LTR)";avsnp150=rs7554409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.7738;1000g2015aug_all=0.823682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165630475 rs7544840 C T 322.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1908\x3bName\x3e"291756:MER21A(LTR)";avsnp150=rs7544840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.7738;1000g2015aug_all=0.823682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:351,30,0 1 165630495 rs7511691 T C 411.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1908\x3bName\x3e"291756:MER21A(LTR)";avsnp150=rs7511691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.7738;1000g2015aug_all=0.823682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:440,39,0 1 165630698 rs6667681 A G 296.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367888.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1534\x3bName\x3e"291757:MER30(DNA)";avsnp150=rs6667681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.7738;1000g2015aug_all=0.823682;esp6500siv2_all=.;ExAC_ALL=0.7455;ExAC_AFR=0.7808;ExAC_AMR=0.7851;ExAC_EAS=0.9957;ExAC_FIN=0.6753;ExAC_NFE=0.6971;ExAC_OTH=0.7373;ExAC_SAS=0.8115;SIFT_score=0.274;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.01;FATHMM_pred=T;phyloP100way_vertebrate=0.337;phyloP20way_mammalian=0.394;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:325,27,0 1 165634425 rs3820362 C G 1403.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.154;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.493;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.2939;1000g2015aug_all=0.339058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1432,134,0 1 165636749 rs2176151 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.23;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1019\x3bName\x3e"291764:AluJo(SINE)";avsnp150=rs2176151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.4202;1000g2015aug_eur=0.496;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.3386;1000g2015aug_all=0.365016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 165648480 rs6662419 A G 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4280\x3bName\x3e"291800:L1MC4(LINE)";avsnp150=rs6662419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.409;1000g2015aug_eur=0.499;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.3343;1000g2015aug_all=0.353834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 165648559 rs4646897 T G 294.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4280\x3bName\x3e"291800:L1MC4(LINE)";avsnp150=rs4646897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.41;1000g2015aug_eur=0.499;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.3343;1000g2015aug_all=0.354034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:323,33,0 1 165648886 rs4646896 G A 662.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4646896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.498;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.3343;1000g2015aug_all=0.354433;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:691,48,0 1 165648894 rs4646895 C G 692.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.21;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4646895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.499;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.3343;1000g2015aug_all=0.354633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:51:721,51,0 1 165651153 rs2882006 T A 681.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2882006;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:710,51,0 1 165651502 rs1913844 G C 820.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1913844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746006;esp6500siv2_all=0.6501;ExAC_ALL=0.7178;ExAC_AFR=0.6187;ExAC_AMR=0.8456;ExAC_EAS=0.9810;ExAC_FIN=0.7030;ExAC_NFE=0.6723;ExAC_OTH=0.6929;ExAC_SAS=0.7439;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:849,72,0 1 165651937 rs7555787 A G 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 165652273 rs1143659 A G 3281.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=exonic;Gene=NM_000696;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ALDH9A1:NM_000696:exon3:c.T402C:p.I134I;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1143659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746206;esp6500siv2_all=0.6502;ExAC_ALL=0.7172;ExAC_AFR=0.6184;ExAC_AMR=0.8455;ExAC_EAS=0.9810;ExAC_FIN=0.7026;ExAC_NFE=0.6720;ExAC_OTH=0.6898;ExAC_SAS=0.7410;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3310,300,0 1 165652445 rs4233407 A G 1047.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.93;SOR=3.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1076,90,0 1 165652568 rs4656457 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eALDH9A1;Func=intronic;Gene=NM_000696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.7781;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 165667971 rs184267020 T A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000696,NR_036683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354775.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs184267020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0504;1000g2015aug_all=0.0245607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 165737704 rs2790053 C G 1962.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=1.342;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCO1;Func=intronic;Gene=NM_001256164,NM_001256165,NM_019026;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000580248.5,ENST00000628579.1,ENST00000464650.5,ENST00000392129.10,ENST00000367881.9,ENST00000612311.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2790053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.8703;1000g2015aug_all=0.921526;esp6500siv2_all=.;ExAC_ALL=0.9171;ExAC_AFR=0.9272;ExAC_AMR=0.8848;ExAC_EAS=0.9896;ExAC_FIN=0.7895;ExAC_NFE=0.8906;ExAC_OTH=0.9278;ExAC_SAS=0.9371;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1991,171,0 1 165738311 rs2251768 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100147773;Func=ncRNA_exonic;Gene=NR_125374;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423121.1,ENST00000367881.9,ENST00000580248.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2251768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.8689;1000g2015aug_all=0.905751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 165859630 rs477033 C G 7872.77 PASS AC=2;AF=1;AN=2;DP=246;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367879.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs477033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1.0000;ExAC_AFR=0.9998;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,246:246:99:7901,737,0 1 165865300 rs4656465 G A 87.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=1.474;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469256.6,ENST00000470820.1,ENST00000367879.8,ENST00000455257.2;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.112;1000g2015aug_amr=0.2219;1000g2015aug_all=0.243411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:99:116,0,490 1 165865478 rs11553301 G A 1365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.522;DP=100;ExcessHet=3.0103;FS=1.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.542;SOR=0.935;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=exonic;Gene=NM_012474;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UCK2:NM_012474:exon4:c.G408A:p.G136G;Gencode=Name\x3eENST00000367879.8,ENST00000470820.1,ENST00000455257.2,ENST00000469256.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11553301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0870607;esp6500siv2_all=0.1165;ExAC_ALL=0.1351;ExAC_AFR=0.0432;ExAC_AMR=0.1205;ExAC_EAS=0.0782;ExAC_FIN=0.1787;ExAC_NFE=0.1591;ExAC_OTH=0.1167;ExAC_SAS=0.1196;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,52:100:99:1394,0,1386 1 165869431 rs6682285 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469256.6,ENST00000455257.2,ENST00000470820.1,ENST00000367879.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1696;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.3052;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.2536;1000g2015aug_all=0.284944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 165870659 rs3790670 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000470820.1,ENST00000367879.8,ENST00000469256.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3790670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.2522;1000g2015aug_all=0.282348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165870668 rs1663837 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367879.8,ENST00000470820.1,ENST00000469256.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1663837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165876705 rs495529 A G 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.006;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=intronic;Gene=NM_012474;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469256.6,ENST00000470820.1,ENST00000367879.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e244\x3bName\x3e"292322:MIRb(SINE)";avsnp150=rs495529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.255;1000g2015aug_all=0.389976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:92:146,0,92 1 165880111 rs526374 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCK2;Func=UTR3;Gene=NM_012474;GeneDetail=NM_012474:c.*3051T>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs526374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.941;1000g2015aug_amr=0.9957;1000g2015aug_all=0.983826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 165896253 rs7514248 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.68;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012474,NM_001320302;GeneDetail=dist\x3e15398\x3bdist\x3e128902;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2603\x3bName\x3e"292368:AluY(SINE)";avsnp150=rs7514248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.6326;1000g2015aug_all=0.590655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 165924619 rs4540635 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012474,NM_001320302;GeneDetail=dist\x3e43764\x3bdist\x3e100536;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4540635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.353;1000g2015aug_all=0.404952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165924620 rs13375130 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012474,NM_001320302;GeneDetail=dist\x3e43765\x3bdist\x3e100535;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13375130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.0836;1000g2015aug_all=0.147165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 165992038 rs4657503 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012474,NM_001320302;GeneDetail=dist\x3e111183\x3bdist\x3e33117;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9781;1000g2015aug_afr=1;1000g2015aug_amr=0.9841;1000g2015aug_all=0.988818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 166105656 rs7549020 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM78B;Func=intronic;Gene=NM_001017961,NM_001320302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354422.3,ENST00000338353.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9928;1000g2015aug_all=0.98742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 166124134 rs896402 A G 1214.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.432;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM78B;Func=intronic;Gene=NM_001017961,NM_001320302;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354422.3,ENST00000451784.1,ENST00000338353.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs896402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9928;1000g2015aug_all=0.990415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1243,111,0 1 166244855 rs777289806 G A 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.453;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.2;ReadPosRankSum=1.323;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e108863\x3bdist\x3e200154;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs777289806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,11:14:49:311,0,49 1 166244927 rs1901357 T C 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.185;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=-1.222;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e108935\x3bdist\x3e200082;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1901357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.365;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.3098;1000g2015aug_all=0.327875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,14:18:79:394,0,79 1 166245037 rs1823620 A G 870.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e109045\x3bdist\x3e199972;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1823620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.998;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.9179;1000g2015aug_all=0.863219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:899,75,0 1 166245170 rs3813991 G C 686.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.085;DP=55;ExcessHet=3.0103;FS=1.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.928;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e109178\x3bdist\x3e199839;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.1484;1000g2015aug_all=0.25639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,25:55:99:715,0,912 1 166245453 rs2599511 T C 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.833;DP=25;ExcessHet=3.0103;FS=5.055;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.425;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e109461\x3bdist\x3e199556;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2599511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.6081;1000g2015aug_all=0.535144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,9:25:99:298,0,580 1 166246419 rs2488896 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e110427\x3bdist\x3e198590;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2488896;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.9969;1000g2015aug_eur=0.998;1000g2015aug_afr=0.5756;1000g2015aug_amr=0.9179;1000g2015aug_all=0.865615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 166246864 rs55968043 G A 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.367;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.665;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e110872\x3bdist\x3e198145;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10916\x3bName\x3e"292949:L1PREC2(LINE)";avsnp150=rs55968043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.3098;1000g2015aug_all=0.328275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:261,0,327 1 166246961 rs55930559 T C 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.242;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e110969\x3bdist\x3e198048;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10916\x3bName\x3e"292949:L1PREC2(LINE)";avsnp150=rs55930559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.3098;1000g2015aug_all=0.328275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,152 1 166264869 rs2257974 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e128877\x3bdist\x3e180140;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e38\x3bName\x3e"292984:(AGCCATG)n(Simple_repeat)";avsnp150=rs2257974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9885;1000g2015aug_all=0.970248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 166408037 rs6676042 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e272045\x3bdist\x3e36972;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448643.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13541\x3bName\x3e"293235:L1MA3(LINE)";avsnp150=rs6676042;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.857;1000g2015aug_amr=0.8833;1000g2015aug_all=0.840056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 166408066 rs6676134 C T 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320302,NR_146890;GeneDetail=dist\x3e272074\x3bdist\x3e36943;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448643.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13541\x3bName\x3e"293235:L1MA3(LINE)";avsnp150=rs6676134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.8585;1000g2015aug_amr=0.8847;1000g2015aug_all=0.840655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 166686630 rs1856091 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e92157\x3bdist\x3e122011;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1977\x3bName\x3e"293717:MER51B(LTR)";avsnp150=rs1856091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.7421;1000g2015aug_all=0.618011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 166686711 rs1856092 G A 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e92238\x3bdist\x3e121930;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1977\x3bName\x3e"293717:MER51B(LTR)";avsnp150=rs1856092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.7421;1000g2015aug_all=0.617812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 166686750 rs502078 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e92277\x3bdist\x3e121891;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1977\x3bName\x3e"293717:MER51B(LTR)";avsnp150=rs502078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.416;1000g2015aug_amr=0.745;1000g2015aug_all=0.63119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 166686817 rs543408 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e92344\x3bdist\x3e121824;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1021\x3bName\x3e"293718:MER57-int(LTR)";avsnp150=rs543408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9601;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.8977;1000g2015aug_all=0.922524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 166699287 rs10918570 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e104814\x3bdist\x3e109354;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17444\x3bName\x3e"293734:L1PA16(LINE)";avsnp150=rs10918570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.3722;1000g2015aug_amr=0.7421;1000g2015aug_all=0.61881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 166716641 rs524612 A C 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.02;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e122168\x3bdist\x3e92000;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=Score\x3e0.933622\x3bName\x3echr1:171683061;Repeat=.;avsnp150=rs524612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.6944;1000g2015aug_amr=0.3415;1000g2015aug_all=0.518171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,145 1 166765794 rs858796 T C 124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.06;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.026;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e171321\x3bdist\x3e42847;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs858796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.681;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.8026;1000g2015aug_all=0.755391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:88:153,0,88 1 166766349 rs858799 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_002925,NM_017542;GeneDetail=dist\x3e171876\x3bdist\x3e42292;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs858799;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9841;1000g2015aug_afr=1;1000g2015aug_amr=0.9928;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 166816108 rs56229522 T A 466.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.049;DP=36;ExcessHet=3.0103;FS=3.164;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.015;SOR=0.264;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGK;Func=intronic;Gene=NM_001314014,NM_017542;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367876.8,ENST00000367875.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56229522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.1641;1000g2015aug_amr=0.1931;1000g2015aug_all=0.289736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,17:36:99:495,0,514 1 166818566 rs2075946 A G 2864.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.685;DP=250;ExcessHet=3.0103;FS=0.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.041;SOR=0.726;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOGK;Func=exonic;Gene=NM_001314014,NM_017542;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=POGK:NM_001314014:exon3:c.A396G:p.A132A,POGK:NM_017542:exon5:c.A750G:p.A250A;Gencode=Name\x3eENST00000367875.1,ENST00000367876.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.162;1000g2015aug_afr=0.152;1000g2015aug_amr=0.17;1000g2015aug_all=0.276757;esp6500siv2_all=0.1816;ExAC_ALL=0.2239;ExAC_AFR=0.1757;ExAC_AMR=0.1666;ExAC_EAS=0.5722;ExAC_FIN=0.1651;ExAC_NFE=0.1824;ExAC_OTH=0.1914;ExAC_SAS=0.3031;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:144,103:247:99:2893,0,4054 1 166827602 rs10800270 A T 709.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.98;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.828;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTADA1;Func=intronic;Gene=NM_053053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367874.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.161;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.1729;1000g2015aug_all=0.28135;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,26:53:99:738,0,721 1 166839174 rs4657609 G A 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.404;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.528;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTADA1;Func=intronic;Gene=NM_053053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367874.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e740\x3bName\x3e"293918:FRAM(SINE)";avsnp150=rs4657609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.164;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.17;1000g2015aug_all=0.25639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:270,0,320 1 166845028 rs2072740 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTADA1;Func=intronic;Gene=NM_053053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367874.4;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.264;1000g2015aug_amr=0.3026;1000g2015aug_all=0.374401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 166905927 rs33958744 C T 744.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.26;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.279;SOR=0.803;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILDR2;Func=exonic;Gene=NM_199351;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ILDR2:NM_199351:exon5:c.G604A:p.V202I;Gencode=Name\x3eENST00000526687.1,ENST00000469934.6,ENST00000529071.5,ENST00000525740.5,ENST00000271417.7,ENST00000529387.5,ENST00000528703.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs33958744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.1225;1000g2015aug_all=0.0828674;esp6500siv2_all=0.1531;ExAC_ALL=0.1368;ExAC_AFR=0.0797;ExAC_AMR=0.0931;ExAC_EAS=0.0001;ExAC_FIN=0.1481;ExAC_NFE=0.1906;ExAC_OTH=0.1783;ExAC_SAS=0.0520;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.037;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.469;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.12;FATHMM_pred=T;phyloP100way_vertebrate=3.322;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=9.997;gerp++gt2=3.69;CADD=4.902;CADD_Phred=24.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,30:69:99:773,0,1047 1 166944273 rs12116418 T A 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eILDR2;Func=intronic;Gene=NM_199351;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526687.1,ENST00000469934.6,ENST00000529071.5,ENST00000525740.5,ENST00000271417.7,ENST00000529387.5,ENST00000528703.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e27\x3bName\x3e"294086:(CA)n(Simple_repeat)";avsnp150=rs12116418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.1772;1000g2015aug_all=0.309704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:21:132,0,21 1 166958601 rs2296837 T C 2962.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.522;DP=242;ExcessHet=3.0103;FS=0.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.905;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAEL;Func=exonic;Gene=NM_001286377,NM_032858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAEL:NM_001286377:exon1:c.T12C:p.R4R,MAEL:NM_032858:exon1:c.T12C:p.R4R;Gencode=Name\x3eENST00000367870.6,ENST00000622874.4,ENST00000367872.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.183;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.559;1000g2015aug_amr=0.1715;1000g2015aug_all=0.301917;esp6500siv2_all=0.3408;ExAC_ALL=0.2841;ExAC_AFR=0.5443;ExAC_AMR=0.1975;ExAC_EAS=0.2691;ExAC_FIN=0.2667;ExAC_NFE=0.2759;ExAC_OTH=0.2147;ExAC_SAS=0.2116;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:126,115:241:99:2991,0,3262 1 166958710 rs11578336 T G 2575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.722;DP=179;ExcessHet=3.0103;FS=11.997;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.53;SOR=0.259;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAEL;Func=exonic;Gene=NM_001286377,NM_032858;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAEL:NM_001286377:exon1:c.T121G:p.S41A,MAEL:NM_032858:exon1:c.T121G:p.S41A;Gencode=Name\x3eENST00000622874.4,ENST00000367870.6,ENST00000367872.8;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.183;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.3661;1000g2015aug_amr=0.1513;1000g2015aug_all=0.248602;esp6500siv2_all=0.2829;ExAC_ALL=0.2770;ExAC_AFR=0.3854;ExAC_AMR=0.2205;ExAC_EAS=0.2779;ExAC_FIN=0.2811;ExAC_NFE=0.2892;ExAC_OTH=0.2135;ExAC_SAS=0.2000;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.089;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=2.53;FATHMM_pred=T;phyloP100way_vertebrate=-0.440;phyloP20way_mammalian=-0.905;SiPhy_29way_logOdds=9.172;gerp++gt2=2.46;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,100:179:99:2604,0,2207 1 166958937 rs41269702 G T 1026.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.891;DP=57;ExcessHet=3.0103;FS=1.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=0.826;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAEL;Func=intronic;Gene=NM_001286377,NM_001286378,NM_032858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367872.8,ENST00000622874.4,ENST00000367870.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41269702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.1268;1000g2015aug_all=0.233626;esp6500siv2_all=0.2478;ExAC_ALL=0.2215;ExAC_AFR=0.3675;ExAC_AMR=0.1550;ExAC_EAS=0.2602;ExAC_FIN=0.1786;ExAC_NFE=0.2139;ExAC_OTH=0.1795;ExAC_SAS=0.2028;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,31:57:99:1055,0,763 1 166961995 rs113109340 G A 310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.102;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=0.869;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAEL;Func=exonic;Gene=NM_001286377,NM_001286378,NM_032858;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAEL:NM_001286377:exon3:c.G305A:p.R102H,MAEL:NM_032858:exon4:c.G398A:p.R133H,MAEL:NM_001286378:exon5:c.G230A:p.R77H;Gencode=Name\x3eENST00000367872.8,ENST00000622874.4,ENST00000367870.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs113109340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00119808;esp6500siv2_all=0.0028;ExAC_ALL=0.0034;ExAC_AFR=0.0007;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0098;ExAC_NFE=0.0049;ExAC_OTH=0.0022;ExAC_SAS=0.0001;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.757;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=0.81;FATHMM_pred=T;phyloP100way_vertebrate=6.887;phyloP20way_mammalian=0.998;SiPhy_29way_logOdds=18.506;gerp++gt2=5.65;CADD=5.318;CADD_Phred=25.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,13:34:99:339,0,605 1 167024448 rs56113143 C G 276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=26;ExcessHet=3.0103;FS=4.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.132;SOR=0.083;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPA33;Func=intronic;Gene=NM_005814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417644.1,ENST00000367868.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56113143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.003;1000g2015aug_amr=0.1023;1000g2015aug_all=0.0571086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,10:26:99:305,0,578 1 167024608 rs6678949 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPA33;Func=intronic;Gene=NM_005814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367868.3,ENST00000417644.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.32;1000g2015aug_amr=0.5965;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 167024631 rs6666045 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPA33;Func=intronic;Gene=NM_005814;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000417644.1,ENST00000367868.3;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.5807;1000g2015aug_all=0.417133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 167080024 rs10918628 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271385.9,ENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10918628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.1762;1000g2015aug_amr=0.0865;1000g2015aug_all=0.127995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 167082869 rs12122365 G A 560.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271385.9,ENST00000443333.1,ENST00000361200.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.7958;1000g2015aug_amr=0.4986;1000g2015aug_all=0.666334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:589,51,0 1 167083068 rs115257553 G A 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.537;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.139;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361200.6,ENST00000443333.1,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115257553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0258;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00878594;esp6500siv2_all=0.0169;ExAC_ALL=0.0183;ExAC_AFR=0.0041;ExAC_AMR=0.0111;ExAC_EAS=0.0001;ExAC_FIN=0.0136;ExAC_NFE=0.0274;ExAC_OTH=0.0231;ExAC_SAS=0.0068;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:256,0,236 1 167088309 rs2149023 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.431;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443333.1,ENST00000361200.6,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2149023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.357;1000g2015aug_amr=0.2507;1000g2015aug_all=0.395567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 167088473 rs1410244 C A 716.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.195;DP=45;ExcessHet=3.0103;FS=1.413;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.488;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443333.1,ENST00000361200.6,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1410244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7351;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.2536;1000g2015aug_all=0.404952;esp6500siv2_all=0.2896;ExAC_ALL=0.3257;ExAC_AFR=0.3895;ExAC_AMR=0.2652;ExAC_EAS=0.7386;ExAC_FIN=0.2508;ExAC_NFE=0.2713;ExAC_OTH=0.2810;ExAC_SAS=0.3490;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,23:45:99:745,0,647 1 167088885 rs4657632 C T 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=intronic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271385.9,ENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e689\x3bName\x3e"294373:L2a(LINE)";avsnp150=rs4657632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7341;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.3964;1000g2015aug_amr=0.2536;1000g2015aug_all=0.40615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 167095163 rs267745 G C 7055.77 PASS AC=2;AF=1;AN=2;DP=210;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=0.772;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=exonic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DUSP27:NM_001080426:exon6:c.G795C:p.E265D;Gencode=Name\x3eENST00000271385.9,ENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.888;1000g2015aug_amr=0.4597;1000g2015aug_all=0.641973;esp6500siv2_all=0.6020;ExAC_ALL=0.5010;ExAC_AFR=0.8417;ExAC_AMR=0.3569;ExAC_EAS=0.8803;ExAC_FIN=0.4290;ExAC_NFE=0.4664;ExAC_OTH=0.4724;ExAC_SAS=0.3590;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.195;MutationAssessor_pred=N;FATHMM_score=-1.99;FATHMM_pred=D;phyloP100way_vertebrate=-2.166;phyloP20way_mammalian=-0.333;SiPhy_29way_logOdds=2.803;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,210:210:99:7084,630,0 1 167095765 rs6668826 G A 1219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.368;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.054;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=exonic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DUSP27:NM_001080426:exon6:c.G1397A:p.R466H;Gencode=Name\x3eENST00000361200.6,ENST00000443333.1,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.168;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2003;1000g2015aug_all=0.329073;esp6500siv2_all=0.2002;ExAC_ALL=0.2560;ExAC_AFR=0.2848;ExAC_AMR=0.2306;ExAC_EAS=0.7561;ExAC_FIN=0.2148;ExAC_NFE=0.1935;ExAC_OTH=0.2213;ExAC_SAS=0.2312;SIFT_score=0.253;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.771;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=4.03;FATHMM_pred=T;phyloP100way_vertebrate=0.171;phyloP20way_mammalian=0.084;SiPhy_29way_logOdds=5.065;gerp++gt2=.;CADD=1.137;CADD_Phred=11.41;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,45:97:99:1248,0,1471 1 167095881 rs3795605 G A 1602.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.648;DP=117;ExcessHet=3.0103;FS=4.49;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-1.491;SOR=1.064;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=exonic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DUSP27:NM_001080426:exon6:c.G1513A:p.A505T;Gencode=Name\x3eENST00000271385.9,ENST00000443333.1,ENST00000361200.6;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"294388:(GAGCAGG)n(Simple_repeat)";avsnp150=rs3795605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.168;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2003;1000g2015aug_all=0.329273;esp6500siv2_all=0.1998;ExAC_ALL=0.2285;ExAC_AFR=0.2535;ExAC_AMR=0.1984;ExAC_EAS=0.7508;ExAC_FIN=0.1751;ExAC_NFE=0.1712;ExAC_OTH=0.19;ExAC_SAS=0.2144;SIFT_score=0.295;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.475;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=4.07;FATHMM_pred=T;phyloP100way_vertebrate=0.662;phyloP20way_mammalian=0.867;SiPhy_29way_logOdds=3.784;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,58:117:99:1631,0,1609 1 167097567 rs61748784 G A 2430.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.418;DP=178;ExcessHet=3.0103;FS=1.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.379;SOR=0.603;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=exonic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DUSP27:NM_001080426:exon6:c.G3199A:p.D1067N;Gencode=Name\x3eENST00000443333.1,ENST00000361200.6,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61748784;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.044;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0965;1000g2015aug_all=0.0527157;esp6500siv2_all=0.1002;ExAC_ALL=0.1010;ExAC_AFR=0.0210;ExAC_AMR=0.0689;ExAC_EAS=0.0003;ExAC_FIN=0.1163;ExAC_NFE=0.1396;ExAC_OTH=0.1336;ExAC_SAS=0.0620;SIFT_score=0.143;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=3.94;FATHMM_pred=T;phyloP100way_vertebrate=1.263;phyloP20way_mammalian=1.038;SiPhy_29way_logOdds=8.777;gerp++gt2=4.38;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:94,84:178:99:2459,0,2513 1 167097739 rs2281959 C A 3518.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.87;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=exonic;Gene=NM_001080426;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DUSP27:NM_001080426:exon6:c.C3371A:p.T1124N;Gencode=Name\x3eENST00000443333.1,ENST00000361200.6,ENST00000271385.9;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.2867;1000g2015aug_all=0.382188;esp6500siv2_all=0.3011;ExAC_ALL=0.3279;ExAC_AFR=0.2750;ExAC_AMR=0.2610;ExAC_EAS=0.7481;ExAC_FIN=0.2887;ExAC_NFE=0.3094;ExAC_OTH=0.3207;ExAC_SAS=0.2790;SIFT_score=0.042;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.062;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=3.88;FATHMM_pred=T;phyloP100way_vertebrate=0.050;phyloP20way_mammalian=0.038;SiPhy_29way_logOdds=4.673;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3547,338,0 1 167098095 rs66619221 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=UTR3;Gene=NM_001080426;GeneDetail=NM_001080426:c.*250G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66619221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.2867;1000g2015aug_all=0.386581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 167098129 rs72691538 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=UTR3;Gene=NM_001080426;GeneDetail=NM_001080426:c.*284T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72691538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.2867;1000g2015aug_all=0.388379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167098131 rs267748 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP27;Func=UTR3;Gene=NM_001080426;GeneDetail=NM_001080426:c.*286G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361200.6,ENST00000443333.1;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.6354;1000g2015aug_all=0.808906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167124997 rs2901952 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001080426,NR_110811;GeneDetail=dist\x3e26631\x3bdist\x3e19602;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2901952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.618;1000g2015aug_amr=0.6859;1000g2015aug_all=0.677316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167125006 rs968336 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001080426,NR_110811;GeneDetail=dist\x3e26640\x3bdist\x3e19593;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs968336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.618;1000g2015aug_amr=0.6859;1000g2015aug_all=0.677117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167132051 rs12091071 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.652;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001080426,NR_110811;GeneDetail=dist\x3e33685\x3bdist\x3e12548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12091071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5883;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.0318;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.0648;1000g2015aug_all=0.197684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 167149356 rs1826951 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01363;Func=ncRNA_intronic;Gene=NR_110811;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426709.5,ENST00000428030.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1908\x3bName\x3e"294495:AluJb(SINE)";avsnp150=rs1826951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9337;1000g2015aug_all=0.939896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167149375 rs1391297 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01363;Func=ncRNA_intronic;Gene=NR_110811;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426709.5,ENST00000428030.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1908\x3bName\x3e"294495:AluJb(SINE)";avsnp150=rs1391297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9337;1000g2015aug_all=0.939896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167149774 rs10918658 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01363;Func=ncRNA_intronic;Gene=NR_110811;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426709.5,ENST00000428030.5;cytoBand=1q24.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10918658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9337;1000g2015aug_all=0.939696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 167307568 rs115083580 T C 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=-1.393;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePOU2F1;Func=intronic;Gene=NM_001198783,NM_001198786,NM_002697;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429375.6,ENST00000367866.6,ENST00000541643.7,ENST00000367862.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3403\x3bName\x3e"294813:Tigger2(DNA)";avsnp150=rs115083580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0115;1000g2015aug_all=0.00838658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,8:11:92:301,0,92 1 167403504 rs952962 A G 627.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs952962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.8948;1000g2015aug_all=0.842652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:656,48,0 1 167403625 rs953809 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs953809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.8948;1000g2015aug_all=0.842652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 167404078 rs3108156 G A 2001.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.57;SOR=0.841;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3108156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.8948;1000g2015aug_all=0.843051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2030,168,0 1 167407686 rs2462553 T C 932.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=4.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2462553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.8934;1000g2015aug_all=0.844649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:961,69,0 1 167408073 rs2258497 C A 765.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362089.9,ENST00000392122.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2258497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.751;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.823;1000g2015aug_amr=0.8905;1000g2015aug_all=0.844848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:794,57,0 1 167408670 rs840016 C T 1484.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs840016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eRheumatoid_arthritis;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.2478;1000g2015aug_all=0.190695;esp6500siv2_all=0.3000;ExAC_ALL=0.3114;ExAC_AFR=0.0863;ExAC_AMR=0.2271;ExAC_EAS=0.1048;ExAC_FIN=0.2453;ExAC_NFE=0.3988;ExAC_OTH=0.3385;ExAC_SAS=0.2915;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1513,120,0 1 167410094 rs553045991 A G 720.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.559;DP=58;ExcessHet=3.0103;FS=2.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.115;SOR=0.411;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs553045991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,27:58:99:749,0,831 1 167410501 rs840014 G A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs840014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.9885;1000g2015aug_all=0.955471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 167487586 rs35864197 C G 920.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.204;DP=58;ExcessHet=3.0103;FS=1.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.663;SOR=0.429;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD247;Func=intronic;Gene=NM_000734,NM_198053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392122.3,ENST00000362089.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"295135:(CCACTC)n(Simple_repeat)";avsnp150=rs35864197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.1095;1000g2015aug_all=0.110823;esp6500siv2_all=0.1562;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,31:58:99:949,0,809 1 167501304 rs858494 A T 41.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000734,NM_003851;GeneDetail=dist\x3e13457\x3bdist\x3e8947;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs858494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.9121;1000g2015aug_all=0.922524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:69,6,0 1 167511595 rs41270716 A T 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.712;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREG1;Func=intronic;Gene=NM_003851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370509.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1931;1000g2015aug_all=0.0692891;esp6500siv2_all=0.0887;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 167515132 rs10918711 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.566;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREG1;Func=intronic;Gene=NM_003851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370509.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1791\x3bName\x3e"295195:Charlie4a(DNA)";avsnp150=rs10918711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.341;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.3516;1000g2015aug_all=0.289137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:50:188,0,50 1 167515272 rs7513428 T C 1808.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREG1;Func=intronic;Gene=NM_003851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370509.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9802;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.9006;1000g2015aug_all=0.85623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:1837,177,0 1 167522453 rs2995069 C T 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCREG1;Func=intronic;Gene=NM_003851;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000370509.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2995069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9703;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.8876;1000g2015aug_all=0.896765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 167607340 rs1229390 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367854.7,ENST00000537350.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1229390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.5582;1000g2015aug_amr=0.7075;1000g2015aug_all=0.679113;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 167643129 rs1229350 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e797\x3bName\x3e"295489:L2c(LINE)";avsnp150=rs1229350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.7689;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.8199;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 167652995 rs72697727 C A 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.997;DP=32;ExcessHet=3.0103;FS=2.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0.461;SOR=0.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72697727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0401358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:595,0,413 1 167666172 rs12093287 T C 313.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.421;DP=29;ExcessHet=3.0103;FS=1.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.185;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367854.7,ENST00000537350.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1048\x3bName\x3e"295528:LTR37B(LTR)";avsnp150=rs12093287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0654;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0690895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:342,0,513 1 167666218 rs12066500 C T 591.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.574;DP=51;ExcessHet=3.0103;FS=2.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.786;SOR=0.349;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1048\x3bName\x3e"295528:LTR37B(LTR)";avsnp150=rs12066500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.0654;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.0749;1000g2015aug_all=0.0682907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,23:51:99:620,0,822 1 167666316 rs72697738 T C 1299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.173;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.004;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1048\x3bName\x3e"295528:LTR37B(LTR)";avsnp150=rs72697738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.0654;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0441294;esp6500siv2_all=0.0413;ExAC_ALL=0.0585;ExAC_AFR=0.0177;ExAC_AMR=0.0567;ExAC_EAS=0.0321;ExAC_FIN=0.0732;ExAC_NFE=0.0627;ExAC_OTH=0.0629;ExAC_SAS=0.0802;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,46:88:99:1328,0,1218 1 167673695 rs2862866 A C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=intronic;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e791\x3bName\x3e"295542:MIR(SINE)";avsnp150=rs2862866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.118;1000g2015aug_amr=0.2478;1000g2015aug_all=0.232827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:71,0,33 1 167674303 rs4656551 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCSD1;Func=UTR3;Gene=NM_001322923,NM_001322924,NM_052862;GeneDetail=NM_001322923:c.*370T>C\x3bNM_001322924:c.*370T>C\x3bNM_052862:c.*370T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537350.5,ENST00000367854.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.255;1000g2015aug_all=0.242412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 167691035 rs3738229 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001146191,NM_003953,NM_024569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.0726;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0453275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 167741258 rs6684150 C G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=1.834;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPZL1;Func=intronic;Gene=NM_001146191,NM_003953,NM_024569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359523.6,ENST00000474859.5,ENST00000392121.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5191\x3bName\x3e"295686:SVA_A(Retroposon)";avsnp150=rs6684150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.6505;1000g2015aug_amr=0.5029;1000g2015aug_all=0.500799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 167741309 rs113375030 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPZL1;Func=intronic;Gene=NM_001146191,NM_003953,NM_024569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359523.6,ENST00000392121.7,ENST00000474859.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5191\x3bName\x3e"295686:SVA_A(Retroposon)";avsnp150=rs113375030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.036;1000g2015aug_all=0.0672923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 167789475 rs4657721 G C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367848.1,ENST00000367851.8,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 167793477 rs1476073 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2182\x3bName\x3e"295792:AluSz(SINE)";avsnp150=rs1476073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.6868;1000g2015aug_amr=0.6153;1000g2015aug_all=0.550519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 167793670 rs1476074 C T 1846.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=1.487;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367851.8,ENST00000367848.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1476074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.4697;1000g2015aug_all=0.371805;esp6500siv2_all=0.3932;ExAC_ALL=0.4044;ExAC_AFR=0.3075;ExAC_AMR=0.4643;ExAC_EAS=0.4321;ExAC_FIN=0.4209;ExAC_NFE=0.4330;ExAC_OTH=0.3543;ExAC_SAS=0.2880;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1875,165,0 1 167794130 rs55964745 G A 811.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.63;DP=50;ExcessHet=3.0103;FS=7.05;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.26;SOR=0.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55964745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0785;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0217652;esp6500siv2_all=0.0549;ExAC_ALL=0.0518;ExAC_AFR=0.0125;ExAC_AMR=0.0217;ExAC_EAS=0;ExAC_FIN=0.0986;ExAC_NFE=0.0743;ExAC_OTH=0.0386;ExAC_SAS=0.0156;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,31:50:99:840,0,538 1 167806647 rs1034463 T A 882.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e536\x3bName\x3e"295821:MLT1J1(LTR)";avsnp150=rs1034463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.6186;1000g2015aug_eur=0.669;1000g2015aug_afr=0.947;1000g2015aug_amr=0.7536;1000g2015aug_all=0.709665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:911,87,0 1 167806696 rs1034464 T C 562.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367851.8,ENST00000367848.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e536\x3bName\x3e"295821:MLT1J1(LTR)";avsnp150=rs1034464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.9834;1000g2015aug_amr=0.8458;1000g2015aug_all=0.844449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:591,57,0 1 167815167 rs2269678 T C 1143.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.23;DP=76;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.772;SOR=1.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367848.1,ENST00000367851.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2269678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.2853;1000g2015aug_all=0.23143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,41:75:99:1172,0,991 1 167815610 rs2269679 C A 603.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.533;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=1.966;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367851.8,ENST00000367848.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2269679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.3487;1000g2015aug_all=0.317292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,19:27:99:632,0,253 1 167817639 rs203795 A G 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.023;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.029;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=exonic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADCY10:NM_001167749:exon16:c.T1938C:p.G646G,ADCY10:NM_001297772:exon19:c.T2121C:p.G707G,ADCY10:NM_018417:exon19:c.T2397C:p.G799G;Gencode=Name\x3eENST00000367848.1,ENST00000367851.8,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8571;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.9297;1000g2015aug_amr=0.8372;1000g2015aug_all=0.822085;esp6500siv2_all=0.7733;ExAC_ALL=0.7555;ExAC_AFR=0.9053;ExAC_AMR=0.8717;ExAC_EAS=0.8630;ExAC_FIN=0.7590;ExAC_NFE=0.7117;ExAC_OTH=0.7334;ExAC_SAS=0.7003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:323,0,295 1 167823512 rs3738236 T C 32.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.903;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-1.96;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.6282;1000g2015aug_all=0.636781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:61:61,0,228 1 167825485 rs2071921 T C 1414.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.256;DP=118;ExcessHet=3.0103;FS=1.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.059;SOR=0.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=exonic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ADCY10:NM_001167749:exon14:c.A1630G:p.I544V,ADCY10:NM_001297772:exon17:c.A1813G:p.I605V,ADCY10:NM_018417:exon17:c.A2089G:p.I697V;Gencode=Name\x3eENST00000545172.5,ENST00000367848.1,ENST00000367851.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7113;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.5749;1000g2015aug_all=0.504593;esp6500siv2_all=0.4204;ExAC_ALL=0.4558;ExAC_AFR=0.4719;ExAC_AMR=0.6817;ExAC_EAS=0.7074;ExAC_FIN=0.4769;ExAC_NFE=0.4003;ExAC_OTH=0.4604;ExAC_SAS=0.3707;SIFT_score=0.273;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.228;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.115;MutationAssessor_pred=N;FATHMM_score=1.41;FATHMM_pred=T;phyloP100way_vertebrate=0.100;phyloP20way_mammalian=-1.041;SiPhy_29way_logOdds=8.848;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,58:118:99:1443,0,1617 1 167825718 rs7537851 C T 342.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.08;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=1.271;SOR=0.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7537851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.2637;1000g2015aug_all=0.223642;esp6500siv2_all=0.2530;ExAC_ALL=0.2498;ExAC_AFR=0.2114;ExAC_AMR=0.2843;ExAC_EAS=0.2213;ExAC_FIN=0.2641;ExAC_NFE=0.2721;ExAC_OTH=0.2305;ExAC_SAS=0.1690;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:371,0,238 1 167839578 rs67878347 G A 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=exonic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADCY10:NM_001167749:exon11:c.C1074T:p.V358V,ADCY10:NM_001297772:exon14:c.C1257T:p.V419V,ADCY10:NM_018417:exon14:c.C1533T:p.V511V;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67878347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.2161;1000g2015aug_all=0.125599;esp6500siv2_all=0.1612;ExAC_ALL=0.1856;ExAC_AFR=0.0682;ExAC_AMR=0.3031;ExAC_EAS=0.1325;ExAC_FIN=0.1876;ExAC_NFE=0.2071;ExAC_OTH=0.1905;ExAC_SAS=0.1176;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:70:70,0,78 1 167844104 rs203825 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367848.1,ENST00000367851.8,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2739\x3bName\x3e"295898:L1ME3A(LINE)";avsnp150=rs203825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.5552;1000g2015aug_amr=0.3444;1000g2015aug_all=0.316294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 167844553 rs203826 C A 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.396;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=0.68;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367848.1,ENST00000367851.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.5552;1000g2015aug_amr=0.3444;1000g2015aug_all=0.315695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:359,0,238 1 167844582 rs203827 C G 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.158;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.79;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545172.5,ENST00000367851.8,ENST00000367848.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.5552;1000g2015aug_amr=0.3444;1000g2015aug_all=0.316494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:219,0,177 1 167849318 rs203847 A G 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.481;DP=38;ExcessHet=3.0103;FS=1.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.932;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=intronic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367851.8,ENST00000367848.1,ENST00000545172.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1431;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.466;1000g2015aug_amr=0.3184;1000g2015aug_all=0.285543;esp6500siv2_all=0.3617;ExAC_ALL=0.3091;ExAC_AFR=0.4481;ExAC_AMR=0.3741;ExAC_EAS=0.1381;ExAC_FIN=0.3187;ExAC_NFE=0.3316;ExAC_OTH=0.3214;ExAC_SAS=0.1729;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,16:38:99:486,0,736 1 167849414 rs203849 A G 727.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.054;DP=83;ExcessHet=3.0103;FS=0.844;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.628;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCY10;Func=exonic;Gene=NM_001167749,NM_001297772,NM_018417;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADCY10:NM_001167749:exon8:c.T696C:p.G232G,ADCY10:NM_001297772:exon11:c.T879C:p.G293G,ADCY10:NM_018417:exon11:c.T1155C:p.G385G;Gencode=Name\x3eENST00000545172.5,ENST00000367851.8,ENST00000367848.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.504;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.4597;1000g2015aug_all=0.493211;esp6500siv2_all=0.5343;ExAC_ALL=0.4775;ExAC_AFR=0.6376;ExAC_AMR=0.4781;ExAC_EAS=0.3295;ExAC_FIN=0.4422;ExAC_NFE=0.4766;ExAC_OTH=0.5298;ExAC_SAS=0.4695;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,33:83:99:756,0,1248 1 167889094 rs17556487 T A 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPC2;Func=intronic;Gene=NM_001143674,NM_015415;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367846.8,ENST00000271373.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17556487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.131;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.3862;1000g2015aug_all=0.171326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 167893759 rs9618 G A 202.98 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=-0.282;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMPC2;Func=exonic;Gene=NM_001143674,NM_015415;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MPC2:NM_001143674:exon3:c.C126T:p.F42F,MPC2:NM_015415:exon3:c.C126T:p.F42F;Gencode=Name\x3eENST00000271373.8,ENST00000367846.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.5202;1000g2015aug_all=0.40655;esp6500siv2_all=0.4221;ExAC_ALL=0.3954;ExAC_AFR=0.6262;ExAC_AMR=0.5948;ExAC_EAS=0.2043;ExAC_FIN=0.4040;ExAC_NFE=0.3782;ExAC_OTH=0.3836;ExAC_SAS=0.2786;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:13:231,0,13 1 167971979 rs436256 G T 371.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312263.10,ENST00000367843.7,ENST00000432587.6,ENST00000367840.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e879\x3bName\x3e"296154:L1MC(LINE)";avsnp150=rs436256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.9002;1000g2015aug_amr=0.7421;1000g2015aug_all=0.680711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:400,27,0 1 167971980 rs428694 C G 371.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367840.3,ENST00000432587.6,ENST00000367843.7,ENST00000312263.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e879\x3bName\x3e"296154:L1MC(LINE)";avsnp150=rs428694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.7435;1000g2015aug_all=0.68151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:400,27,0 1 167972023 rs202248 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432587.6,ENST00000367840.3,ENST00000312263.10,ENST00000367843.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e879\x3bName\x3e"296154:L1MC(LINE)";avsnp150=rs202248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.745;1000g2015aug_all=0.68131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 167973976 rs1060041 C T 1230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.338;DP=135;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.467;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=exonic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DCAF6:NM_001198957:exon9:c.C1230T:p.D410D,DCAF6:NM_001349777:exon9:c.C882T:p.D294D,DCAF6:NM_001349780:exon9:c.C882T:p.D294D,DCAF6:NM_001017977:exon10:c.C1323T:p.D441D,DCAF6:NM_001198956:exon10:c.C1323T:p.D441D,DCAF6:NM_001349773:exon10:c.C1323T:p.D441D,DCAF6:NM_001349774:exon10:c.C882T:p.D294D,DCAF6:NM_001349775:exon10:c.C882T:p.D294D,DCAF6:NM_001349776:exon10:c.C882T:p.D294D,DCAF6:NM_001349778:exon10:c.C882T:p.D294D,DCAF6:NM_001349779:exon10:c.C882T:p.D294D,DCAF6:NM_018442:exon10:c.C1323T:p.D441D;Gencode=Name\x3eENST00000432587.6,ENST00000367840.3,ENST00000312263.10,ENST00000367843.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1060041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1595;1000g2015aug_eur=0.2266;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.3876;1000g2015aug_all=0.167931;esp6500siv2_all=0.1874;ExAC_ALL=0.2318;ExAC_AFR=0.0788;ExAC_AMR=0.5040;ExAC_EAS=0.1360;ExAC_FIN=0.2090;ExAC_NFE=0.2352;ExAC_OTH=0.2252;ExAC_SAS=0.1842;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:80,55:135:99:1259,0,2084 1 167988529 rs6700210 A G 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=0.241;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367840.3,ENST00000432587.6,ENST00000367843.7,ENST00000312263.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2346\x3bName\x3e"296176:AluSc8(SINE)";avsnp150=rs6700210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.9062;1000g2015aug_amr=0.6412;1000g2015aug_all=0.616014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 167992344 rs201541 T A 305.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.051;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.089;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432587.6,ENST00000367840.3,ENST00000312263.10,ENST00000367843.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.926302\x3bName\x3echr15:29228978;Repeat=.;avsnp150=rs201541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.5432;1000g2015aug_all=0.433506;esp6500siv2_all=0.4599;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,12:29:99:334,0,506 1 168014204 rs41271647 T A 677.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.868;DP=58;ExcessHet=3.0103;FS=1.317;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.264;SOR=0.436;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=exonic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DCAF6:NM_001349780:exon13:c.T1325A:p.L442H,DCAF6:NM_001017977:exon14:c.T1766A:p.L589H,DCAF6:NM_001349777:exon14:c.T1385A:p.L462H,DCAF6:NM_001349778:exon14:c.T1325A:p.L442H,DCAF6:NM_001349779:exon14:c.T1325A:p.L442H,DCAF6:NM_001198957:exon15:c.T1904A:p.L635H,DCAF6:NM_001349774:exon15:c.T1385A:p.L462H,DCAF6:NM_001349775:exon15:c.T1385A:p.L462H,DCAF6:NM_001349776:exon15:c.T1385A:p.L462H,DCAF6:NM_018442:exon15:c.T1826A:p.L609H,DCAF6:NM_001198956:exon16:c.T1997A:p.L666H,DCAF6:NM_001349773:exon16:c.T1997A:p.L666H;Gencode=Name\x3eENST00000367843.7,ENST00000312263.10,ENST00000367840.3,ENST00000432587.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41271647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0399361;esp6500siv2_all=0.0700;ExAC_ALL=0.0703;ExAC_AFR=0.0151;ExAC_AMR=0.0361;ExAC_EAS=0.0001;ExAC_FIN=0.0289;ExAC_NFE=0.0930;ExAC_OTH=0.0716;ExAC_SAS=0.0906;SIFT_score=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.638;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.52;MutationAssessor_pred=L;FATHMM_score=1.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.066;phyloP20way_mammalian=0.052;SiPhy_29way_logOdds=3.700;gerp++gt2=.;CADD=2.422;CADD_Phred=18.96;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,23:58:99:706,0,1097 1 168025538 rs3977723 T C 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.57;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432587.6,ENST00000367840.3,ENST00000312263.10,ENST00000367843.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.966418\x3bName\x3echr5:141895623;Repeat=.;avsnp150=rs3977723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.6527;1000g2015aug_all=0.61881;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 168025628 rs7535915 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.61;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367840.3,ENST00000432587.6,ENST00000367843.7,ENST00000312263.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.966418\x3bName\x3echr5:141895623;Repeat=.;avsnp150=rs7535915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 168025664 rs7535844 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367840.3,ENST00000432587.6,ENST00000367843.7,ENST00000312263.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.966418\x3bName\x3echr5:141895623;Repeat=.;avsnp150=rs7535844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 168035104 rs380095 G C 627.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDCAF6;Func=intronic;Gene=NM_001017977,NM_001198956,NM_001198957,NM_001349773,NM_001349774,NM_001349775,NM_001349776,NM_001349777,NM_001349778,NM_001349779,NM_001349780,NM_018442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000312263.10,ENST00000367843.7,ENST00000432587.6,ENST00000367840.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs380095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.8963;1000g2015aug_all=0.901158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:656,48,0 1 168056724 rs275143 A G 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.725;DP=20;ExcessHet=3.0103;FS=2.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.695;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR161;Func=intronic;Gene=NM_001267609,NM_001267610,NM_001267611,NM_001267612,NM_001267613,NM_001267614,NM_001349632,NM_001349633,NM_001349634,NM_001349635,NM_153832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537209.5,ENST00000271357.9,ENST00000539777.5,ENST00000367838.5,ENST00000367835.1,ENST00000367836.5,ENST00000546300.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs275143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.5461;1000g2015aug_all=0.438498;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:441,0,206 1 168059866 rs275149 A G 1287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.018;DP=111;ExcessHet=3.0103;FS=8.872;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.765;SOR=0.924;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR161;Func=exonic;Gene=NM_001267609,NM_001267610,NM_001267611,NM_001267612,NM_001267613,NM_001267614,NM_001349632,NM_001349633,NM_001349634,NM_001349635,NM_153832;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPR161:NM_001267613:exon3:c.T906C:p.G302G,GPR161:NM_001267614:exon3:c.T798C:p.G266G,GPR161:NM_001349635:exon3:c.T744C:p.G248G,GPR161:NM_001267611:exon4:c.T1191C:p.G397G,GPR161:NM_001267612:exon4:c.T744C:p.G248G,GPR161:NM_001349633:exon4:c.T1140C:p.G380G,GPR161:NM_001267609:exon5:c.T1200C:p.G400G,GPR161:NM_001267610:exon5:c.T1140C:p.G380G,GPR161:NM_001349632:exon6:c.T1140C:p.G380G,GPR161:NM_001349634:exon6:c.T1140C:p.G380G,GPR161:NM_153832:exon6:c.T1140C:p.G380G;Gencode=Name\x3eENST00000546300.5,ENST00000367836.5,ENST00000367838.5,ENST00000367835.1,ENST00000271357.9,ENST00000539777.5,ENST00000537209.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs275149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.5257;1000g2015aug_amr=0.4063;1000g2015aug_all=0.320487;esp6500siv2_all=0.4316;ExAC_ALL=0.3539;ExAC_AFR=0.6176;ExAC_AMR=0.5461;ExAC_EAS=0.2017;ExAC_FIN=0.3613;ExAC_NFE=0.3318;ExAC_OTH=0.3454;ExAC_SAS=0.2370;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,53:111:99:1316,0,1476 1 168066659 rs7515429 A G 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.524;DP=22;ExcessHet=3.0103;FS=4.904;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.023;SOR=2.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR161;Func=intronic;Gene=NM_001267609,NM_001267610,NM_001267611,NM_001267612,NM_001267613,NM_001267614,NM_001349632,NM_001349633,NM_001349634,NM_001349635,NM_153832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539777.5,ENST00000271357.9,ENST00000537209.5,ENST00000367836.5,ENST00000546300.5,ENST00000367835.1,ENST00000367838.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.4914;1000g2015aug_all=0.29353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:318,0,317 1 168073601 rs2294817 C A 1642.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.295;DP=89;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-1.786;SOR=0.35;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR161;Func=intronic;Gene=NM_001267609,NM_001267610,NM_001267611,NM_001267612,NM_001267613,NM_001267614,NM_001349632,NM_001349633,NM_001349634,NM_001349635,NM_153832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271357.9,ENST00000539777.5,ENST00000537209.5,ENST00000546300.5,ENST00000367836.5,ENST00000367838.5,ENST00000367835.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e312\x3bName\x3e"296299:Charlie15a(DNA)";avsnp150=rs2294817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.34;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.4841;1000g2015aug_all=0.28774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,52:89:99:1671,0,1129 1 168074145 rs6427119 G A 1076.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.964;DP=70;ExcessHet=3.0103;FS=3.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=1.622;SOR=1.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR161;Func=intronic;Gene=NM_001267609,NM_001267610,NM_001267611,NM_001267612,NM_001267613,NM_001267614,NM_001349632,NM_001349633,NM_001349634,NM_001349635,NM_153832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537209.5,ENST00000539777.5,ENST00000271357.9,ENST00000367835.1,ENST00000367838.5,ENST00000546300.5,ENST00000367836.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.339;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.4827;1000g2015aug_all=0.286941;esp6500siv2_all=.;ExAC_ALL=0.3360;ExAC_AFR=0.3305;ExAC_AMR=0.5523;ExAC_EAS=0.1576;ExAC_FIN=0.3659;ExAC_NFE=0.3421;ExAC_OTH=0.3388;ExAC_SAS=0.2273;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,35:70:99:1105,0,1158 1 168153090 rs2038035 A T 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.615;DP=41;ExcessHet=3.0103;FS=1.374;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.252;SOR=1.162;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIPRL;Func=intronic;Gene=NM_001031800,NM_152902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367830.3,ENST00000367833.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2038035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.5202;1000g2015aug_all=0.327077;esp6500siv2_all=0.2548;ExAC_ALL=0.2737;ExAC_AFR=0.3824;ExAC_AMR=0.5811;ExAC_EAS=0.3982;ExAC_FIN=0.2179;ExAC_NFE=0.2172;ExAC_OTH=0.2409;ExAC_SAS=0.1641;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,17:41:99:407,0,577 1 168153370 rs2038034 A G 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.267;DP=53;ExcessHet=3.0103;FS=4.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.553;SOR=0.248;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIPRL;Func=intronic;Gene=NM_001031800,NM_152902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367830.3,ENST00000367833.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2038034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4157;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.41;1000g2015aug_amr=0.5202;1000g2015aug_all=0.335264;esp6500siv2_all=0.2630;ExAC_ALL=0.2812;ExAC_AFR=0.4056;ExAC_AMR=0.5837;ExAC_EAS=0.4136;ExAC_FIN=0.2225;ExAC_NFE=0.2225;ExAC_OTH=0.2398;ExAC_SAS=0.1745;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:721,0,773 1 168166079 rs10918841 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.18;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIPRL;Func=intronic;Gene=NM_152902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367833.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10918841;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4147;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.5202;1000g2015aug_all=0.327476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 168169452 rs2072776 G A 111.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIPRL;Func=UTR3;Gene=NM_152902;GeneDetail=NM_152902:c.*168G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367833.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6614;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:140,0,27 1 168200733 rs11588504 T C 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.903;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-1.056;SOR=0.917;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSFT2D2;Func=intronic;Gene=NM_199344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271375.6,ENST00000367829.5,ENST00000630869.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.6471;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.4971;1000g2015aug_all=0.435304;esp6500siv2_all=0.5239;ExAC_ALL=0.5618;ExAC_AFR=0.3064;ExAC_AMR=0.5134;ExAC_EAS=0.4863;ExAC_FIN=0.6440;ExAC_NFE=0.6450;ExAC_OTH=0.5396;ExAC_SAS=0.4271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:212,0,270 1 168208308 rs12142742 T C 380.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.195;DP=23;ExcessHet=3.0103;FS=3.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.55;SOR=0.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSFT2D2;Func=intronic;Gene=NM_199344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630869.1,ENST00000367829.5,ENST00000271375.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.669;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.5533;1000g2015aug_all=0.534145;esp6500siv2_all=0.6248;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,15:23:99:409,0,147 1 168235982 rs4656576 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026844,NM_005149;GeneDetail=dist\x3e19314\x3bdist\x3e14296;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e41806\x3bName\x3e"296687:HERVL18-int(LTR)";avsnp150=rs4656576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.6256;1000g2015aug_amr=0.5634;1000g2015aug_all=0.55611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 168236099 rs35742201 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026844,NM_005149;GeneDetail=dist\x3e19431\x3bdist\x3e14179;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e41806\x3bName\x3e"296687:HERVL18-int(LTR)";avsnp150=rs35742201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.171;1000g2015aug_amr=0.0994;1000g2015aug_all=0.148363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 168273966 rs10918867 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX19;Func=intronic;Gene=NM_005149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367821.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4230\x3bName\x3e"296762:LTR8A(LTR)";avsnp150=rs10918867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.6081;1000g2015aug_all=0.610623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 168274201 rs4656579 G A 891.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.322;DP=72;ExcessHet=3.0103;FS=1.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.141;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX19;Func=intronic;Gene=NM_005149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367821.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.378;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.4357;1000g2015aug_amr=0.5562;1000g2015aug_all=0.48762;esp6500siv2_all=0.6332;ExAC_ALL=0.6047;ExAC_AFR=0.4771;ExAC_AMR=0.5821;ExAC_EAS=0.3461;ExAC_FIN=0.6113;ExAC_NFE=0.7025;ExAC_OTH=0.5938;ExAC_SAS=0.4390;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,33:72:99:920,0,1100 1 168278264 rs1883148 G A 578.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX19;Func=intronic;Gene=NM_005149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367821.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1883148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7183;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.6441;1000g2015aug_all=0.725439;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:607,51,0 1 168282261 rs3885717 T A 745.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.602;DP=60;ExcessHet=3.0103;FS=1.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.089;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBX19;Func=UTR3;Gene=NM_005149;GeneDetail=NM_005149:c.*21T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367821.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3885717;cosmic70=.;CLNALLELEID=277084;CLNDN=Adrenocorticotropic_hormone_deficiency;CLNDISDB=Human_Phenotype_Ontology:HP:0011748,MedGen:C0342388,OMIM:201400,SNOMED_CT:237692001;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.4452;1000g2015aug_all=0.489417;esp6500siv2_all=0.4564;ExAC_ALL=0.4453;ExAC_AFR=0.5396;ExAC_AMR=0.5001;ExAC_EAS=0.4366;ExAC_FIN=0.3784;ExAC_NFE=0.4135;ExAC_OTH=0.4530;ExAC_SAS=0.5080;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,29:60:99:774,0,808 1 168337033 rs2268557 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005149,NR_030284;GeneDetail=dist\x3e53367\x3bdist\x3e7729;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e211\x3bName\x3e"296894:L2(LINE)";avsnp150=rs2268557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.2331;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.2176;1000g2015aug_all=0.177915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 168454737 rs144023687 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928565;Func=ncRNA_intronic;Gene=NR_125956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422253.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3982\x3bName\x3e"297118:L1PA8(LINE)";avsnp150=rs144023687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.0879;1000g2015aug_all=0.172923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 168454789 rs74647369 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928565;Func=ncRNA_intronic;Gene=NR_125956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422253.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3982\x3bName\x3e"297118:L1PA8(LINE)";avsnp150=rs74647369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.0879;1000g2015aug_all=0.173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 168454848 rs12095300 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928565;Func=ncRNA_exonic;Gene=NR_125956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422253.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3982\x3bName\x3e"297118:L1PA8(LINE)";avsnp150=rs12095300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.0879;1000g2015aug_all=0.172724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 168454923 rs12095306 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928565;Func=ncRNA_exonic;Gene=NR_125956;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422253.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3982\x3bName\x3e"297118:L1PA8(LINE)";avsnp150=rs12095306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.0879;1000g2015aug_all=0.172324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 168510122 rs470733 T A 1732.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=2.19;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.44;MQRankSum=-1.774;QD=30.46;ReadPosRankSum=-1.061;SOR=3.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=UTR3;Gene=NM_003175;GeneDetail=NM_003175:c.*68A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs470733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8671;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5398;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.6499;1000g2015aug_all=0.627596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,48:49:99:1761,137,0 1 168510504 rs200826337 C T 787.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.675;DP=57;ExcessHet=3.0103;FS=5.924;MLEAC=1;MLEAF=0.5;MQ=54.13;MQRankSum=-6.852;QD=13.82;ReadPosRankSum=0.404;SOR=2.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs200826337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,24:57:99:816,0,1104 1 168510562 rs114579420 G A 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.776;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.53;MQRankSum=2.82;QD=18.74;ReadPosRankSum=-0.257;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs114579420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0283546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:328,0,232 1 168511081 rs114737056 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.06;MQRankSum=-2.546;QD=17.19;ReadPosRankSum=0.626;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs114737056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.1564;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.098;1000g2015aug_all=0.113818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:458,0,426 1 168511155 rs76400946 T C 3029.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.52;QD=34.04;SOR=2.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs76400946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.6527;1000g2015aug_all=0.661741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:3058,267,0 1 168511205 rs116168093 C G 1851.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.248;DP=145;ExcessHet=3.0103;FS=1.371;MLEAC=1;MLEAF=0.5;MQ=59.72;MQRankSum=1.986;QD=12.77;ReadPosRankSum=-0.299;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs116168093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0809;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0283546;esp6500siv2_all=0.0258;ExAC_ALL=0.0146;ExAC_AFR=0.0563;ExAC_AMR=0.0070;ExAC_EAS=0.0001;ExAC_FIN=0.0047;ExAC_NFE=0.0124;ExAC_OTH=0.0149;ExAC_SAS=0.0137;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,71:145:99:1880,0,1962 1 168513067 rs61801330 C A 1821.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.297;DP=171;ExcessHet=3.0103;FS=3.613;MLEAC=1;MLEAF=0.5;MQ=56.98;MQRankSum=-5.445;QD=10.65;ReadPosRankSum=1.667;SOR=0.469;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs61801330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.1599;1000g2015aug_all=0.206669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,80:171:99:1850,0,2404 1 168513109 rs3820404 A G 1652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.109;DP=179;ExcessHet=3.0103;FS=3.523;MLEAC=1;MLEAF=0.5;MQ=57.02;MQRankSum=-6.432;QD=9.29;ReadPosRankSum=1.035;SOR=0.474;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=intronic;Gene=NM_003175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs3820404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.1772;1000g2015aug_all=0.196885;esp6500siv2_all=.;ExAC_ALL=0.1368;ExAC_AFR=0.2486;ExAC_AMR=0.0720;ExAC_EAS=0.0177;ExAC_FIN=0.1887;ExAC_NFE=0.1433;ExAC_OTH=0.1478;ExAC_SAS=0.1348;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,71:178:99:1681,0,2637 1 168513214 rs3820406 C T 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.495;DP=74;ExcessHet=3.0103;FS=5.779;MLEAC=1;MLEAF=0.5;MQ=56.97;MQRankSum=-7.198;QD=2.44;ReadPosRankSum=1.4;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL2;Func=UTR5;Gene=NM_003175;GeneDetail=NM_003175:c.-12G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367819.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168574042;Repeat=.;avsnp150=rs3820406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0740815;esp6500siv2_all=0.0153;ExAC_ALL=0.0225;ExAC_AFR=0.0525;ExAC_AMR=0.0076;ExAC_EAS=0.0035;ExAC_FIN=0.0271;ExAC_NFE=0.0208;ExAC_OTH=0.0251;ExAC_SAS=0.0310;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,10:74:99:209,0,2670 1 168545758 rs28433337 C T 786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.767;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.01;MQRankSum=0.398;QD=9.96;ReadPosRankSum=0.151;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL1;Func=UTR5;Gene=NM_002995;GeneDetail=NM_002995:c.-118C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367818.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168540478;Repeat=.;avsnp150=rs28433337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3641;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.4294;1000g2015aug_all=0.404153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,26:79:99:815,0,1817 1 168545821 rs61079363 G A 1056.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.378;DP=176;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.72;MQRankSum=-6.117;QD=6.07;ReadPosRankSum=2.854;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL1;Func=UTR5;Gene=NM_002995;GeneDetail=NM_002995:c.-55G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367818.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168540478;Repeat=.;avsnp150=rs61079363;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.4387;1000g2015aug_amr=0.1513;1000g2015aug_all=0.213458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:124,50:174:99:1085,0,3575 1 168545949 rs34933908 G A 2482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.223;DP=233;ExcessHet=3.0103;FS=1.646;MLEAC=1;MLEAF=0.5;MQ=58.41;MQRankSum=3.592;QD=10.7;ReadPosRankSum=0.245;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL1;Func=intronic;Gene=NM_002995;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367818.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168540478;Repeat=.;avsnp150=rs34933908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.5688;ExAC_AFR=0.6442;ExAC_AMR=0.5018;ExAC_EAS=0.3414;ExAC_FIN=0.6476;ExAC_NFE=0.6091;ExAC_OTH=0.5903;ExAC_SAS=0.4914;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:133,99:232:99:2511,0,3691 1 168549422 rs6427130 C T 1941.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.065;DP=164;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.3;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXCL1;Func=intronic;Gene=NM_002995;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367818.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.972542\x3bName\x3echr1:168540478;Repeat=.;avsnp150=rs6427130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.3847;1000g2015aug_all=0.424321;esp6500siv2_all=0.5377;ExAC_ALL=0.4699;ExAC_AFR=0.5219;ExAC_AMR=0.3523;ExAC_EAS=0.1694;ExAC_FIN=0.5161;ExAC_NFE=0.5356;ExAC_OTH=0.4778;ExAC_SAS=0.3921;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,78:164:99:1970,0,2212 1 168698173 rs1052591 C T 1075.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.6;DP=75;ExcessHet=3.0103;FS=2.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.448;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDPT;Func=exonic;Gene=NM_001937;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DPT:NM_001937:exon1:c.G240A:p.T80T;Gencode=Name\x3eENST00000367817.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1052591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.3141;1000g2015aug_all=0.317492;esp6500siv2_all=0.4687;ExAC_ALL=0.4302;ExAC_AFR=0.3111;ExAC_AMR=0.2365;ExAC_EAS=0.1543;ExAC_FIN=0.4608;ExAC_NFE=0.5322;ExAC_OTH=0.3985;ExAC_SAS=0.3633;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,42:75:99:1104,0,857 1 168706257 rs6427146 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001937,NR_024160;GeneDetail=dist\x3e7815\x3bdist\x3e49922;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e306\x3bName\x3e"297529:MER5A(DNA)";avsnp150=rs6427146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.589;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.9297;1000g2015aug_amr=0.5317;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 168706260 rs6427147 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001937,NR_024160;GeneDetail=dist\x3e7818\x3bdist\x3e49919;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e306\x3bName\x3e"297529:MER5A(DNA)";avsnp150=rs6427147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.589;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.5288;1000g2015aug_all=0.611422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 168986089 rs3007391 G A 93.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00970;Func=ncRNA_intronic;Gene=NR_104091;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366408.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3007391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9035;1000g2015aug_all=0.946885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:121,12,0 1 168994000 rs6427172 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00970;Func=ncRNA_intronic;Gene=NR_104091;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366408.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.727;1000g2015aug_eur=0.9036;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.8343;1000g2015aug_all=0.781749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169076212 rs1200128 G C 377.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.858;DP=33;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.442;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1200128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0327;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.0106;1000g2015aug_amr=0.1902;1000g2015aug_all=0.117412;esp6500siv2_all=0.2278;ExAC_ALL=0.2570;ExAC_AFR=0.0604;ExAC_AMR=0.1949;ExAC_EAS=0.0336;ExAC_FIN=0.3963;ExAC_NFE=0.3471;ExAC_OTH=0.2489;ExAC_SAS=0.1527;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,17:33:99:406,0,467 1 169080837 rs1200138 C T 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.998;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=2.372;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367815.8,ENST00000367816.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1200138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.7723;1000g2015aug_all=0.746805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:222,0,169 1 169093762 rs7517394 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e590\x3bName\x3e"298267:MIRb(SINE)";avsnp150=rs7517394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.4669;1000g2015aug_all=0.306709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 169094100 rs968304 T A 1205.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs968304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.6778;1000g2015aug_amr=0.6369;1000g2015aug_all=0.657947;esp6500siv2_all=0.6140;ExAC_ALL=0.6073;ExAC_AFR=0.6735;ExAC_AMR=0.6127;ExAC_EAS=0.8207;ExAC_FIN=0.5882;ExAC_NFE=0.5884;ExAC_OTH=0.6007;ExAC_SAS=0.5346;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1234,111,0 1 169094459 rs1892094 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.73;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0853;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.4669;1000g2015aug_all=0.291134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 169099037 rs10919070 A C 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10919070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eQT_interval;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.2205;1000g2015aug_all=0.0798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 169099061 rs1200157 G A 312.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367815.8,ENST00000367816.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1200157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8115;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.5855;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.6254;1000g2015aug_all=0.639377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:341,27,0 1 169099483 rs10919071 A G 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=-0.179;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10919071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eQT_interval;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.0879;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.2219;1000g2015aug_all=0.0802716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,134 1 169099941 rs7416619 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2313\x3bName\x3e"298272:AluSg(SINE)";avsnp150=rs7416619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.6037;1000g2015aug_all=0.569089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 169099945 rs10919072 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2313\x3bName\x3e"298272:AluSg(SINE)";avsnp150=rs10919072;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.6037;1000g2015aug_all=0.569089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 169100241 rs1200159 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=intronic;Gene=NM_001677;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5,ENST00000367815.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1200159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.547;1000g2015aug_eur=0.6004;1000g2015aug_afr=0.5681;1000g2015aug_amr=0.6124;1000g2015aug_all=0.626997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169101273 rs1779796 T G 745.22 PASS AC=2;AF=1;AN=2;BaseQRankSum=0.373;DP=20;ExcessHet=3.0103;FS=3.979;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.1;ReadPosRankSum=0.868;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP1B1;Func=UTR3;Gene=NM_001677;GeneDetail=NM_001677:c.*480T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367816.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.919656\x3bName\x3echr4:42029863;Repeat=Score\x3e24\x3bName\x3e"298273:(T)n(Simple_repeat)";avsnp150=rs1779796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.1778;1000g2015aug_amr=0.2637;1000g2015aug_all=0.135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,19:20:4:772,4,0 1 169102223 rs61803315 G C 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.581;DP=21;ExcessHet=3.0103;FS=4.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.224;SOR=2.129;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61803315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.264;1000g2015aug_amr=0.2478;1000g2015aug_all=0.240415;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:196,0,287 1 169102313 rs61803316 C G 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61803316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.245;1000g2015aug_all=0.222843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,143 1 169102340 rs12035622 T A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12035622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.2176;1000g2015aug_all=0.0782748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 169138868 rs3737681 C T 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.872;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.919;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.319;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.3156;1000g2015aug_all=0.400559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:432,0,467 1 169159866 rs7526721 G T 2187.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.644;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.508;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.5288;1000g2015aug_all=0.476438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2216,204,0 1 169160532 rs12129979 T G 88.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.317;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.3127;1000g2015aug_all=0.385184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:116,9,0 1 169170031 rs1208370 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2460\x3bName\x3e"298425:MER74A(LTR)";avsnp150=rs1208370;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.6844;1000g2015aug_all=0.669329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 169216412 rs2040445 C G 490.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2040445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9881;1000g2015aug_afr=1;1000g2015aug_amr=0.9841;1000g2015aug_all=0.992812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:519,39,0 1 169226727 rs10919114 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e27558\x3bName\x3e"298529:L1PA2(LINE)";avsnp150=rs10919114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.255;1000g2015aug_all=0.0898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 169226736 rs10919115 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e27558\x3bName\x3e"298529:L1PA2(LINE)";avsnp150=rs10919115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.1074;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.255;1000g2015aug_all=0.0896565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 169256501 rs4589164 C T 497.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.135;DP=35;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.951;SOR=0.361;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4589164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.092;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.1715;1000g2015aug_all=0.127995;esp6500siv2_all=0.2570;ExAC_ALL=0.2406;ExAC_AFR=0.0985;ExAC_AMR=0.1370;ExAC_EAS=0.0007;ExAC_FIN=0.3561;ExAC_NFE=0.3320;ExAC_OTH=0.2616;ExAC_SAS=0.1100;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:526,0,419 1 169268077 rs12116683 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12116683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.092;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.1744;1000g2015aug_all=0.129792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 169272299 rs10919130 A T 586.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10919130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.174;1000g2015aug_amr=0.389;1000g2015aug_all=0.227436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:615,60,0 1 169272451 rs10800427 A T 611.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9703;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9784;1000g2015aug_all=0.982029;esp6500siv2_all=0.9624;ExAC_ALL=0.9608;ExAC_AFR=0.9926;ExAC_AMR=0.9872;ExAC_EAS=0.9994;ExAC_FIN=0.9493;ExAC_NFE=0.9462;ExAC_OTH=0.9468;ExAC_SAS=0.9662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:640,45,0 1 169272453 rs10800428 G A 611.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9784;1000g2015aug_all=0.982827;esp6500siv2_all=0.9626;ExAC_ALL=0.9607;ExAC_AFR=0.9927;ExAC_AMR=0.9872;ExAC_EAS=0.9994;ExAC_FIN=0.9493;ExAC_NFE=0.9460;ExAC_OTH=0.9466;ExAC_SAS=0.9661;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:45:640,45,0 1 169293721 rs1140523 G A 630.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=exonic;Gene=NM_013330;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NME7:NM_013330:exon2:c.C21T:p.F7F;Gencode=Name\x3eENST00000367811.7,ENST00000472647.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1140523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.389;1000g2015aug_all=0.227037;esp6500siv2_all=0.3595;ExAC_ALL=0.3486;ExAC_AFR=0.2110;ExAC_AMR=0.3660;ExAC_EAS=0.0324;ExAC_FIN=0.4439;ExAC_NFE=0.4319;ExAC_OTH=0.3686;ExAC_SAS=0.2140;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:659,60,0 1 169336617 rs4656671 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.431;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNME7;Func=intronic;Gene=NM_013330,NM_197972;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472647.5,ENST00000367811.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.0688;1000g2015aug_amr=0.1902;1000g2015aug_all=0.144369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 169345704 rs12563090 G A 731.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLZF1;Func=intronic;Gene=NM_001320972,NM_001320973,NM_003666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367807.7,ENST00000329281.6,ENST00000367808.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12563090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.4357;1000g2015aug_amr=0.5634;1000g2015aug_all=0.397963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:760,63,0 1 169351596 rs3905328 A G 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLZF1;Func=intronic;Gene=NM_001320973,NM_003666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367808.7,ENST00000329281.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e249\x3bName\x3e"298731:MIR3(SINE)";avsnp150=rs3905328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.67;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7176;1000g2015aug_all=0.689097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 169364014 rs1133814 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLZF1;Func=intronic;Gene=NM_003666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000329281.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1133814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.67;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7176;1000g2015aug_all=0.689097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169370227 rs2003653 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC181;Func=intronic;Gene=NM_001300968,NM_001300969,NM_021179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367805.7,ENST00000367806.7,ENST00000545005.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24367\x3bName\x3e"298765:L1PA5(LINE)";avsnp150=rs2003653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.669;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7176;1000g2015aug_all=0.688898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 169390957 rs35107735 A T 1123.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.484;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.94;MQRankSum=-0.649;QD=24.43;ReadPosRankSum=2.556;SOR=1.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC181;Func=exonic;Gene=NM_001300968,NM_001300969,NM_021179;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC181:NM_001300969:exon3:c.T712A:p.F238I,CCDC181:NM_021179:exon3:c.T712A:p.F238I,CCDC181:NM_001300968:exon4:c.T712A:p.F238I;Gencode=Name\x3eENST00000367805.7,ENST00000545005.5,ENST00000491570.2,ENST00000367806.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.921023\x3bName\x3echr12:4600618;Repeat=.;avsnp150=rs35107735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.1873;1000g2015aug_all=0.14377;esp6500siv2_all=0.2825;ExAC_ALL=0.2679;ExAC_AFR=0.1036;ExAC_AMR=0.1434;ExAC_EAS=0.0006;ExAC_FIN=0.3855;ExAC_NFE=0.3672;ExAC_OTH=0.2764;ExAC_SAS=0.1491;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.103;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.082;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.485;MutationTaster_pred=P;MutationAssessor_score=2.585;MutationAssessor_pred=M;FATHMM_score=1.96;FATHMM_pred=T;phyloP100way_vertebrate=2.176;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=9.105;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,31:46:99:1152,0,454 1 169391154 rs3820059 A G 419.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC181;Func=exonic;Gene=NM_001300968,NM_001300969,NM_021179;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC181:NM_001300969:exon3:c.T515C:p.F172S,CCDC181:NM_021179:exon3:c.T515C:p.F172S,CCDC181:NM_001300968:exon4:c.T515C:p.F172S;Gencode=Name\x3eENST00000367805.7,ENST00000367806.7,ENST00000545005.5,ENST00000491570.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=Score\x3e0.921023\x3bName\x3echr12:4600618;Repeat=.;avsnp150=rs3820059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.669;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.7176;1000g2015aug_all=0.688898;esp6500siv2_all=0.6444;ExAC_ALL=0.6728;ExAC_AFR=0.6383;ExAC_AMR=0.7813;ExAC_EAS=0.9284;ExAC_FIN=0.7170;ExAC_NFE=0.6615;ExAC_OTH=0.6432;ExAC_SAS=0.5144;SIFT_score=0.404;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.760;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.12;FATHMM_pred=T;phyloP100way_vertebrate=0.123;phyloP20way_mammalian=-0.686;SiPhy_29way_logOdds=2.045;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:448,42,0 1 169394226 rs10919168 A G 707.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC181;Func=intronic;Gene=NM_001300968,NM_001300969,NM_021179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367806.7,ENST00000545005.5,ENST00000491570.2,ENST00000367805.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10919168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.6278;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.7795;1000g2015aug_all=0.758387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:736,66,0 1 169414245 rs7522565 C T 93.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC181;Func=intronic;Gene=NM_001300968;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545005.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e591\x3bName\x3e"298817:L2a(LINE)";avsnp150=rs7522565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.1097;1000g2015aug_amr=0.4049;1000g2015aug_all=0.226238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:121,12,0 1 169435027 rs2678166 C T 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC19A2;Func=UTR3;Gene=NM_001319667,NM_006996;GeneDetail=NM_001319667:c.*60G>A\x3bNM_006996:c.*60G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367804.4,ENST00000236137.9;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2678166;cosmic70=.;CLNALLELEID=278187;CLNDN=Thiamine-responsive_megaloblastic_anemia|Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness;CLNDISDB=Human_Phenotype_Ontology:HP:0004860,MedGen:C0271972|MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED_CT:237617006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.993;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 169455435 rs2056926 G C 1463.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.234;DP=131;ExcessHet=3.0103;FS=0.652;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.088;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001319667,NM_006996;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000392097.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2056926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.3617;1000g2015aug_all=0.484425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,59:131:99:1492,0,1931 1 169493953 rs12131397 A C 993.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=intronic;Gene=NM_000130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367797.7,ENST00000367796.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12131397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.2595;1000g2015aug_amr=0.2767;1000g2015aug_all=0.271366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1022,93,0 1 169498834 rs6009 T C 1103.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=2.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=intronic;Gene=NM_000130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367796.3,ENST00000367797.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6009;cosmic70=.;CLNALLELEID=249500;CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.9496;1000g2015aug_all=0.936302;esp6500siv2_all=0.9163;ExAC_ALL=0.9326;ExAC_AFR=0.8980;ExAC_AMR=0.9723;ExAC_EAS=0.9999;ExAC_FIN=0.9507;ExAC_NFE=0.9224;ExAC_OTH=0.9157;ExAC_SAS=0.9263;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1132,96,0 1 169510233 rs9332607 G A 3143.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=238;ExcessHet=3.0103;FS=0.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.384;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=exonic;Gene=NM_000130;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=F5:NM_000130:exon13:c.C4095T:p.T1365T;Gencode=Name\x3eENST00000367797.7,ENST00000367796.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9332607;cosmic70=.;CLNALLELEID=249503;CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.2017;1000g2015aug_all=0.182109;esp6500siv2_all=0.3291;ExAC_ALL=0.2958;ExAC_AFR=0.1845;ExAC_AMR=0.1573;ExAC_EAS=0.0006;ExAC_FIN=0.3607;ExAC_NFE=0.3957;ExAC_OTH=0.2996;ExAC_SAS=0.1875;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:118,120:238:99:3172,0,3280 1 169510475 rs1046712 G T 3551.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.465;DP=309;ExcessHet=3.0103;FS=2.452;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=1.362;QD=11.57;ReadPosRankSum=0.748;SOR=0.696;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=exonic;Gene=NM_000130;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=F5:NM_000130:exon13:c.C3853A:p.L1285I;Gencode=Name\x3eENST00000367796.3,ENST00000367797.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046712;cosmic70=.;CLNALLELEID=249505;CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.1441;1000g2015aug_all=0.164736;esp6500siv2_all=0.1751;ExAC_ALL=0.1788;ExAC_AFR=0.1677;ExAC_AMR=0.1303;ExAC_EAS=0.1016;ExAC_FIN=0.2061;ExAC_NFE=0.1888;ExAC_OTH=0.1696;ExAC_SAS=0.2092;SIFT_score=0.151;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.545;MutationAssessor_pred=M;FATHMM_score=1.2;FATHMM_pred=T;phyloP100way_vertebrate=-0.143;phyloP20way_mammalian=-2.308;SiPhy_29way_logOdds=0.717;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:160,147:307:99:3580,0,4402 1 169519304 rs9332693 A G 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.27;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.561;SOR=0.243;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=intronic;Gene=NM_000130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367796.3,ENST00000367797.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9332693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0173;1000g2015aug_all=0.00958466;esp6500siv2_all=0.0183;ExAC_ALL=0.0191;ExAC_AFR=0.0038;ExAC_AMR=0.0078;ExAC_EAS=0;ExAC_FIN=0.0495;ExAC_NFE=0.0268;ExAC_OTH=0.0167;ExAC_SAS=0.0032;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:214,0,329 1 169528384 rs6023 G A 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.443;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF5;Func=intronic;Gene=NM_000130;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367797.7,ENST00000367796.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6023;cosmic70=.;CLNALLELEID=249522;CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|Thrombophilia|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.036;1000g2015aug_all=0.0323482;esp6500siv2_all=0.0657;ExAC_ALL=0.0582;ExAC_AFR=0.0155;ExAC_AMR=0.0379;ExAC_EAS=0.0079;ExAC_FIN=0.0393;ExAC_NFE=0.0837;ExAC_OTH=0.0584;ExAC_SAS=0.0300;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 169559326 rs3917853 G A 493.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.958;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.51;ReadPosRankSum=-0.399;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367786.6,ENST00000263686.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.205;1000g2015aug_amr=0.0591;1000g2015aug_all=0.091853;esp6500siv2_all=0.1248;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:522,0,465 1 169559635 rs3917851 T C 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.189;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458599.6,ENST00000263686.10,ENST00000367786.6,ENST00000367788.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0885;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.036;1000g2015aug_all=0.0347444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,107 1 169560471 rs3917840 A G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367786.6,ENST00000367788.6,ENST00000458599.6,ENST00000263686.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e987\x3bName\x3e"299067:MER20B(DNA)";avsnp150=rs3917840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.205;1000g2015aug_amr=0.0591;1000g2015aug_all=0.0916534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 169560485 rs3917839 T G 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263686.10,ENST00000458599.6,ENST00000367788.6,ENST00000367786.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e987\x3bName\x3e"299067:MER20B(DNA)";avsnp150=rs3917839;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.036;1000g2015aug_all=0.0347444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,104 1 169563062 rs17522707 G A 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.659;DP=22;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.023;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367786.6,ENST00000367788.6,ENST00000458599.6,ENST00000263686.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17522707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0368;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.036;1000g2015aug_all=0.0361422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:252,0,401 1 169564130 rs1569471 T G 181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.828;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263686.10,ENST00000458599.6,ENST00000367788.6,ENST00000367786.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1569471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.0624;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.6679;1000g2015aug_amr=0.1643;1000g2015aug_all=0.258187;esp6500siv2_all=0.3404;ExAC_ALL=0.2014;ExAC_AFR=0.5885;ExAC_AMR=0.1329;ExAC_EAS=0.0084;ExAC_FIN=0.1458;ExAC_NFE=0.2118;ExAC_OTH=0.1865;ExAC_SAS=0.0804;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:210,0,260 1 169564918 rs3917818 G A 349.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.957;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.154;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367788.6,ENST00000367786.6,ENST00000263686.10,ENST00000458599.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0363419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:378,0,432 1 169565520 rs3917810 A G 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458599.6,ENST00000263686.10,ENST00000367788.6,ENST00000367786.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.046;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0383387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 169566313 rs6127 C T 702.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.619;DP=64;ExcessHet=3.0103;FS=2.122;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.373;SOR=0.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=exonic;Gene=NM_003005;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SELP:NM_003005:exon11:c.G1807A:p.D603N;Gencode=Name\x3eENST00000458599.6,ENST00000263686.10,ENST00000367788.6,ENST00000367786.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9573;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.7003;1000g2015aug_all=0.750799;esp6500siv2_all=0.6455;ExAC_ALL=0.6386;ExAC_AFR=0.8277;ExAC_AMR=0.7776;ExAC_EAS=0.9721;ExAC_FIN=0.6485;ExAC_NFE=0.5607;ExAC_OTH=0.6051;ExAC_SAS=0.5611;SIFT_score=0.907;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.538;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.29;MutationAssessor_pred=N;FATHMM_score=-0.19;FATHMM_pred=T;phyloP100way_vertebrate=-0.410;phyloP20way_mammalian=0.090;SiPhy_29way_logOdds=5.702;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:731,0,975 1 169578586 rs2076074 G A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0.366;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263686.10,ENST00000458599.6,ENST00000367788.6,ENST00000367786.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e214\x3bName\x3e"299098:L2a(LINE)";avsnp150=rs2076074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.3631;1000g2015aug_all=0.239816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 169580717 rs3917731 T C 1098.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.051;DP=68;ExcessHet=3.0103;FS=1.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.741;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367786.6,ENST00000367788.6,ENST00000458599.6,ENST00000263686.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.1427;1000g2015aug_all=0.107827;esp6500siv2_all=0.2157;ExAC_ALL=0.2028;ExAC_AFR=0.0764;ExAC_AMR=0.1001;ExAC_EAS=0.0058;ExAC_FIN=0.2044;ExAC_NFE=0.2791;ExAC_OTH=0.2076;ExAC_SAS=0.1463;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,38:68:99:1127,0,844 1 169599254 rs732314 T C 434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.931;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=2.889;SOR=0.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELP;Func=intronic;Gene=NM_003005;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367788.6,ENST00000367786.6,ENST00000263686.10,ENST00000458599.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs732314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.5109;1000g2015aug_afr=0.6611;1000g2015aug_amr=0.3934;1000g2015aug_all=0.46865;esp6500siv2_all=0.5385;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,20:34:99:463,0,381 1 169660781 rs12938 A G 1180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.178;DP=82;ExcessHet=3.0103;FS=2.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-1.285;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=UTR3;Gene=NM_000655;GeneDetail=NM_000655:c.*144T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.295;1000g2015aug_amr=0.1844;1000g2015aug_all=0.205871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,48:82:99:1209,0,799 1 169665551 rs4987358 G T 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.906;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.273;SOR=0.558;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4987358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.183;1000g2015aug_all=0.207069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,21:33:99:539,0,300 1 169665632 rs2223286 T C 1346.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2223286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.6195;1000g2015aug_amr=0.2363;1000g2015aug_all=0.334864;esp6500siv2_all=0.3866;ExAC_ALL=0.3549;ExAC_AFR=0.6156;ExAC_AMR=0.2857;ExAC_EAS=0.1351;ExAC_FIN=0.2751;ExAC_NFE=0.3363;ExAC_OTH=0.2517;ExAC_SAS=0.3443;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1375,129,0 1 169670868 rs4987396 C T 128.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.286;DP=25;ExcessHet=3.0103;FS=4.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=0.204;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4987396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0471246;esp6500siv2_all=0.0339;ExAC_ALL=0.0609;ExAC_AFR=0.0233;ExAC_AMR=0.0495;ExAC_EAS=0.0686;ExAC_FIN=0.0459;ExAC_NFE=0.0528;ExAC_OTH=0.0521;ExAC_SAS=0.1055;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,8:25:99:157,0,500 1 169673838 rs2229569 G A 479.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.663;DP=42;ExcessHet=3.0103;FS=4.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.011;SOR=1.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=exonic;Gene=NM_000655;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SELL:NM_000655:exon5:c.C676T:p.P226S;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.254;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.175;1000g2015aug_afr=0.27;1000g2015aug_amr=0.2752;1000g2015aug_all=0.24401;esp6500siv2_all=0.1592;ExAC_ALL=0.2101;ExAC_AFR=0.2674;ExAC_AMR=0.2797;ExAC_EAS=0.2611;ExAC_FIN=0.1981;ExAC_NFE=0.1649;ExAC_OTH=0.2073;ExAC_SAS=0.2438;SIFT_score=0.063;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.003;MutationTaster_pred=P;MutationAssessor_score=2.41;MutationAssessor_pred=M;FATHMM_score=0.82;FATHMM_pred=T;phyloP100way_vertebrate=2.278;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=12.556;gerp++gt2=5.31;CADD=5.423;CADD_Phred=26.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,16:42:99:508,0,708 1 169676293 rs2205848 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2205848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9894;1000g2015aug_amr=0.7925;1000g2015aug_all=0.81869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 169676486 rs1131498 A G 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.174;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.867;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=exonic;Gene=NM_000655;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SELL:NM_000655:exon4:c.T616C:p.F206L;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1801;1000g2015aug_all=0.132987;esp6500siv2_all=0.2282;ExAC_ALL=0.2113;ExAC_AFR=0.1558;ExAC_AMR=0.1183;ExAC_EAS=0.0067;ExAC_FIN=0.2048;ExAC_NFE=0.2720;ExAC_OTH=0.2231;ExAC_SAS=0.1666;SIFT_score=0.384;SIFT_pred=T;Polyphen2_HDIV_score=0.075;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.072;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=P;MutationAssessor_score=2.625;MutationAssessor_pred=M;FATHMM_score=-2.8;FATHMM_pred=D;phyloP100way_vertebrate=0.230;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=5.689;gerp++gt2=3.16;CADD=1.968;CADD_Phred=16.01;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,13:33:99:355,0,603 1 169677709 rs1051091 A G 612.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.336;DP=46;ExcessHet=3.0103;FS=2.66;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.626;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=exonic;Gene=NM_000655;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SELL:NM_000655:exon3:c.T360C:p.L120L;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.2965;1000g2015aug_amr=0.3401;1000g2015aug_all=0.30012;esp6500siv2_all=0.2497;ExAC_ALL=0.2847;ExAC_AFR=0.2843;ExAC_AMR=0.4071;ExAC_EAS=0.2677;ExAC_FIN=0.2631;ExAC_NFE=0.2555;ExAC_OTH=0.3036;ExAC_SAS=0.3351;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:641,0,644 1 169678024 rs4987285 T C 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.839;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.58;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e346\x3bName\x3e"299266:MIR3(SINE)";avsnp150=rs4987285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.3573;1000g2015aug_all=0.358427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:448,0,349 1 169679553 rs4987280 C T 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.714;DP=58;ExcessHet=3.0103;FS=3.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.773;SOR=1.238;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELL;Func=intronic;Gene=NM_000655;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236147.4;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"299268:(AACAT)n(Simple_repeat)";avsnp150=rs4987280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.1715;1000g2015aug_all=0.10024;esp6500siv2_all=0.1899;ExAC_ALL=0.2262;ExAC_AFR=0.0548;ExAC_AMR=0.2577;ExAC_EAS=0.0055;ExAC_FIN=0.2115;ExAC_NFE=0.3056;ExAC_OTH=0.2049;ExAC_SAS=0.1755;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,23:58:99:602,0,950 1 169694695 rs3917434 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333360.11,ENST00000367777.5,ENST00000367776.5,ENST00000367775.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.7752;1000g2015aug_all=0.784744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 169695870 rs5355 G A 1572.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.405;DP=113;ExcessHet=3.0103;FS=2.461;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.299;SOR=0.499;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=exonic;Gene=NM_000450;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SELE:NM_000450:exon11:c.C1723T:p.L575F;Gencode=Name\x3eENST00000367774.1,ENST00000333360.11,ENST00000367775.5,ENST00000367776.5,ENST00000367777.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0461262;esp6500siv2_all=0.0341;ExAC_ALL=0.0467;ExAC_AFR=0.0166;ExAC_AMR=0.0319;ExAC_EAS=0.0525;ExAC_FIN=0.0410;ExAC_NFE=0.0401;ExAC_OTH=0.0648;ExAC_SAS=0.1024;SIFT_score=0.176;SIFT_pred=T;Polyphen2_HDIV_score=0.391;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.163;Polyphen2_HVAR_pred=B;LRT_score=0.097;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=1.91;FATHMM_pred=T;phyloP100way_vertebrate=2.341;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=11.931;gerp++gt2=4.6;CADD=1.993;CADD_Phred=16.17;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,63:110:99:1601,0,1146 1 169697117 rs3917458 A T 1464.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.138;DP=115;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.098;SOR=0.702;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367775.5,ENST00000367776.5,ENST00000367777.5,ENST00000367774.1,ENST00000333360.11;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0473243;esp6500siv2_all=0.0350;ExAC_ALL=0.0457;ExAC_AFR=0.0208;ExAC_AMR=0.0312;ExAC_EAS=0.0519;ExAC_FIN=0.0398;ExAC_NFE=0.0393;ExAC_OTH=0.0621;ExAC_SAS=0.1003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,54:113:99:1493,0,1414 1 169697444 rs1076637 C T 996.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.846;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.23;SOR=0.672;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367777.5,ENST00000367776.5,ENST00000367775.5,ENST00000333360.11,ENST00000367774.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1076637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.3199;1000g2015aug_all=0.329073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,37:71:99:1025,0,856 1 169698825 rs1534904 T G 2462.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367776.5,ENST00000367775.5,ENST00000367777.5,ENST00000333360.11,ENST00000367774.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1534904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.7781;1000g2015aug_all=0.801917;esp6500siv2_all=0.7674;ExAC_ALL=0.7430;ExAC_AFR=0.9449;ExAC_AMR=0.8061;ExAC_EAS=0.6931;ExAC_FIN=0.6711;ExAC_NFE=0.6959;ExAC_OTH=0.7627;ExAC_SAS=0.8160;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2491,225,0 1 169698921 rs2076059 C T 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.186;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.648;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367777.5,ENST00000367775.5,ENST00000367776.5,ENST00000367774.1,ENST00000333360.11;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.3545;1000g2015aug_all=0.277756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,23:61:99:539,0,995 1 169699819 rs3917419 G A 395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.076;DP=45;ExcessHet=3.0103;FS=1.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.181;SOR=0.996;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367774.1,ENST00000333360.11,ENST00000367777.5,ENST00000367775.5,ENST00000367776.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.3545;1000g2015aug_all=0.278155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,15:45:99:424,0,887 1 169702278 rs3917406 A G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333360.11,ENST00000367774.1,ENST00000367776.5,ENST00000367775.5,ENST00000367777.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3917406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.3691;1000g2015aug_amr=0.3862;1000g2015aug_all=0.383586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 169702341 rs727909 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333360.11,ENST00000367774.1,ENST00000367776.5,ENST00000367775.5,ENST00000367777.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs727909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.2982;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.4078;1000g2015aug_all=0.458866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169702705 rs932307 G A 1306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.954;DP=102;ExcessHet=3.0103;FS=0.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.858;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSELE;Func=intronic;Gene=NM_000450;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367774.1,ENST00000333360.11,ENST00000367775.5,ENST00000367776.5,ENST00000367777.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.3763;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.3699;1000g2015aug_amr=0.3862;1000g2015aug_all=0.383786;esp6500siv2_all=0.2815;ExAC_ALL=0.3225;ExAC_AFR=0.3522;ExAC_AMR=0.4568;ExAC_EAS=0.5048;ExAC_FIN=0.3167;ExAC_NFE=0.2607;ExAC_OTH=0.3469;ExAC_SAS=0.3654;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,50:102:99:1335,0,1221 1 169764568 rs3766132 C G 715.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf112;Func=UTR5;Gene=NM_018186;GeneDetail=NM_018186:c.-5479C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359326.8,ENST00000286031.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.7637;1000g2015aug_all=0.78754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:744,66,0 1 169768033 rs6680938 T C 264.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf112;Func=UTR5;Gene=NM_001320047,NM_001320051,NM_018186;GeneDetail=NM_001320047:c.-2014T>C\x3bNM_001320051:c.-2014T>C\x3bNM_018186:c.-2014T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359326.8,ENST00000286031.10,ENST00000413811.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.729;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.7032;1000g2015aug_all=0.680112;esp6500siv2_all=.;ExAC_ALL=0.6728;ExAC_AFR=0.7262;ExAC_AMR=0.7345;ExAC_EAS=0.6687;ExAC_FIN=0.6667;ExAC_NFE=0.6057;ExAC_OTH=0.6299;ExAC_SAS=0.7201;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:293,27,0 1 169768080 rs6668114 C A 545.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf112;Func=exonic;Gene=NM_001320050;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf112:NM_001320050:exon2:c.C132A:p.D44E;Gencode=Name\x3eENST00000359326.8,ENST00000286031.10,ENST00000413811.3;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.729;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.7032;1000g2015aug_all=0.680112;esp6500siv2_all=.;ExAC_ALL=0.6783;ExAC_AFR=0.7264;ExAC_AMR=0.7353;ExAC_EAS=0.6585;ExAC_FIN=0.6667;ExAC_NFE=0.6079;ExAC_OTH=0.6402;ExAC_SAS=0.7299;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:574,51,0 1 169818880 rs2272918 G A 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf112;Func=intronic;Gene=NM_001320047,NM_001320048,NM_018186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413811.3,ENST00000286031.10,ENST00000367771.10,ENST00000359326.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e253\x3bName\x3e"299526:MIR1_Amn(SINE)";avsnp150=rs2272918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2161;1000g2015aug_all=0.195687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 169819605 rs6664099 A G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf112;Func=intronic;Gene=NM_001320047,NM_001320048,NM_018186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359326.8,ENST00000413811.3,ENST00000367771.10,ENST00000286031.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.7032;1000g2015aug_all=0.678714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 169823660 rs1062976 C T 828.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.145;DP=90;ExcessHet=3.0103;FS=4.188;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.18;SOR=1.158;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=exonic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SCYL3:NM_020423:exon12:c.G1758A:p.V586V,SCYL3:NM_181093:exon13:c.G1920A:p.V640V;Gencode=Name\x3eENST00000367770.5,ENST00000367771.10,ENST00000367772.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1062976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.1888;1000g2015aug_all=0.13758;esp6500siv2_all=0.2400;ExAC_ALL=0.2196;ExAC_AFR=0.1623;ExAC_AMR=0.1266;ExAC_EAS=0.0064;ExAC_FIN=0.2344;ExAC_NFE=0.2834;ExAC_OTH=0.2236;ExAC_SAS=0.1684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,33:90:99:857,0,1665 1 169823718 rs4656197 T C 2765.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=0.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=exonic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SCYL3:NM_020423:exon12:c.A1700G:p.Q567R,SCYL3:NM_181093:exon13:c.A1862G:p.Q621R;Gencode=Name\x3eENST00000367770.5,ENST00000367771.10,ENST00000367772.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.7032;1000g2015aug_all=0.679712;esp6500siv2_all=0.6266;ExAC_ALL=0.6433;ExAC_AFR=0.7108;ExAC_AMR=0.7504;ExAC_EAS=0.6650;ExAC_FIN=0.5596;ExAC_NFE=0.5988;ExAC_OTH=0.6377;ExAC_SAS=0.7282;SIFT_score=0.527;SIFT_pred=T;Polyphen2_HDIV_score=0.589;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.211;Polyphen2_HVAR_pred=B;LRT_score=0.889;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=0.89;FATHMM_pred=T;phyloP100way_vertebrate=0.019;phyloP20way_mammalian=-0.330;SiPhy_29way_logOdds=17.403;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:2794,267,0 1 169831993 rs7525259 A G 1176.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367771.10,ENST00000367772.8,ENST00000367770.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7525259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.7493;1000g2015aug_all=0.728035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1205,99,0 1 169833822 rs1883436 T C 593.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.35;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367772.8,ENST00000367771.10,ENST00000367770.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2308\x3bName\x3e"299551:AluSx1(SINE)";avsnp150=rs1883436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.7493;1000g2015aug_all=0.728035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:622,45,0 1 169835950 rs12133843 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367770.5,ENST00000367771.10,ENST00000367772.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.7421;1000g2015aug_amr=0.7493;1000g2015aug_all=0.727636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169838278 rs17603022 G A 414.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=29;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-1.308;SOR=0.299;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367770.5,ENST00000367772.8,ENST00000367771.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17603022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.1888;1000g2015aug_all=0.138179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:443,0,346 1 169843125 rs3817858 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367770.5,ENST00000367772.8,ENST00000367771.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3817858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0561102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169844877 rs6427225 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367771.10,ENST00000367772.8,ENST00000367770.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e293\x3bName\x3e"299564:MIR1_Amn(SINE)";avsnp150=rs6427225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.7493;1000g2015aug_all=0.726637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169847683 rs6683056 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCYL3;Func=intronic;Gene=NM_020423,NM_181093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367770.5,ENST00000367771.10,ENST00000367772.8;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6683056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.755;1000g2015aug_all=0.73143;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 169890933 rs518928 A G 967.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361580.6,ENST00000367767.5,ENST00000538366.5,ENST00000367765.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs518928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9568;1000g2015aug_all=0.95647;esp6500siv2_all=0.9293;ExAC_ALL=0.9273;ExAC_AFR=0.9841;ExAC_AMR=0.9604;ExAC_EAS=0.9886;ExAC_FIN=0.9343;ExAC_NFE=0.9045;ExAC_OTH=0.9183;ExAC_SAS=0.9257;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:996,87,0 1 169941761 rs511443 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361580.6,ENST00000538366.5,ENST00000367765.5,ENST00000367767.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs511443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8966;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9568;1000g2015aug_all=0.957668;esp6500siv2_all=0.9307;ExAC_ALL=0.9306;ExAC_AFR=0.9847;ExAC_AMR=0.9622;ExAC_EAS=0.9985;ExAC_FIN=0.9389;ExAC_NFE=0.9066;ExAC_OTH=0.9321;ExAC_SAS=0.9255;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169946953 rs850771 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367767.5,ENST00000367765.5,ENST00000538366.5,ENST00000361580.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e290\x3bName\x3e"299722:L2(LINE)";avsnp150=rs850771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9568;1000g2015aug_all=0.957867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 169951748 rs638486 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.5;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361580.6,ENST00000367767.5,ENST00000367765.5,ENST00000538366.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs638486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9568;1000g2015aug_all=0.957867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 169952385 rs2057249 G T 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367765.5,ENST00000538366.5,ENST00000367767.5,ENST00000361580.6;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2057249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9568;1000g2015aug_all=0.958267;esp6500siv2_all=0.9302;ExAC_ALL=0.9297;ExAC_AFR=0.9845;ExAC_AMR=0.9615;ExAC_EAS=0.9984;ExAC_FIN=0.9359;ExAC_NFE=0.9064;ExAC_OTH=0.9185;ExAC_SAS=0.9242;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 170004508 rs12750962 A T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-2.057;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361580.6,ENST00000367765.5,ENST00000538366.5,ENST00000367767.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12750962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1151;1000g2015aug_sas=0.272;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.118;1000g2015aug_amr=0.2406;1000g2015aug_all=0.202676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,167 1 170015700 rs7555871 T C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.18;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIFAP3;Func=intronic;Gene=NM_001204514,NM_001204516,NM_001204517,NM_014970;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361580.6,ENST00000367767.5,ENST00000367765.5,ENST00000538366.5;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.196;1000g2015aug_all=0.155551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:92:134,0,92 1 170085589 rs573112 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001204514,NM_001136107;GeneDetail=dist\x3e41710\x3bdist\x3e29599;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.9265;1000g2015aug_all=0.89976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 170115156 rs550297 G A 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.958;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.859;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001136107;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439373.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs550297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.0885;1000g2015aug_amr=0.4294;1000g2015aug_all=0.409345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:202,0,357 1 170135510 rs576572 T C 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL11B;Func=intronic;Gene=NM_001136107;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439373.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2678\x3bName\x3e"300007:AluYi6(SINE)";avsnp150=rs576572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.838;1000g2015aug_afr=0.705;1000g2015aug_amr=0.7378;1000g2015aug_all=0.759385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 170135669 rs6427234 C T 1489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.368;DP=119;ExcessHet=3.0103;FS=4.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.506;SOR=1.094;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL11B;Func=exonic;Gene=NM_001136107;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=METTL11B:NM_001136107:exon3:c.C357T:p.C119C;Gencode=Name\x3eENST00000439373.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.2421;1000g2015aug_all=0.291134;esp6500siv2_all=0.3377;ExAC_ALL=0.2695;ExAC_AFR=0.4786;ExAC_AMR=0.2458;ExAC_EAS=0.1587;ExAC_FIN=0.2942;ExAC_NFE=0.2742;ExAC_OTH=0.2636;ExAC_SAS=0.2004;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,55:119:99:1518,0,1690 1 170135760 rs6427235 T C 2217.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.344;DP=128;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-0.069;SOR=0.707;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL11B;Func=exonic;Gene=NM_001136107;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=METTL11B:NM_001136107:exon3:c.T448C:p.S150P;Gencode=Name\x3eENST00000439373.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.2435;1000g2015aug_all=0.291334;esp6500siv2_all=0.3377;ExAC_ALL=0.2670;ExAC_AFR=0.4737;ExAC_AMR=0.2512;ExAC_EAS=0.1561;ExAC_FIN=0.2959;ExAC_NFE=0.2734;ExAC_OTH=0.2615;ExAC_SAS=0.1999;SIFT_score=0.288;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.033;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.37;MutationAssessor_pred=N;FATHMM_score=1.95;FATHMM_pred=T;phyloP100way_vertebrate=0.259;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=5.481;gerp++gt2=.;CADD=1.518;CADD_Phred=13.41;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,59:128:99:2246,0,3873 1 170135765 rs6669514 T C 2199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.943;DP=120;ExcessHet=3.0103;FS=2.346;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=-0.946;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL11B;Func=exonic;Gene=NM_001136107;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=METTL11B:NM_001136107:exon3:c.T453C:p.F151F;Gencode=Name\x3eENST00000439373.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.4758;1000g2015aug_amr=0.2219;1000g2015aug_all=0.265575;esp6500siv2_all=0.2959;ExAC_ALL=0.2342;ExAC_AFR=0.4385;ExAC_AMR=0.2371;ExAC_EAS=0.1561;ExAC_FIN=0.2566;ExAC_NFE=0.2314;ExAC_OTH=0.2132;ExAC_SAS=0.1777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,57:120:99:2228,0,3785 1 170338606 rs10800514 C A 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.144;DP=23;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.432;SOR=0.343;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026957,NR_125958;GeneDetail=dist\x3e85257\x3bdist\x3e91852;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.2363;1000g2015aug_all=0.253794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:319,0,351 1 170361164 rs10919382 A G 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.36;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026957,NR_125958;GeneDetail=dist\x3e107815\x3bdist\x3e69294;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2187\x3bName\x3e"300372:MSTB(LTR)";avsnp150=rs10919382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0149;1000g2015aug_sas=0.1237;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.4607;1000g2015aug_amr=0.2983;1000g2015aug_all=0.261581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 170361172 rs1576978 A C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026957,NR_125958;GeneDetail=dist\x3e107823\x3bdist\x3e69286;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2187\x3bName\x3e"300372:MSTB(LTR)";avsnp150=rs1576978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3194;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.4395;1000g2015aug_all=0.462859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 170456064 rs1930632 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928650;Func=ncRNA_intronic;Gene=NR_125958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416416.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1553\x3bName\x3e"300510:LTR8B(LTR)";avsnp150=rs1930632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.987;1000g2015aug_all=0.927316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 170501385 rs7531125 A C 3213.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.951;DP=100;ExcessHet=3.0103;FS=3.329;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.46;ReadPosRankSum=-0.35;SOR=0.487;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGORAB,LOC101928650;Func=exonic;Gene=NM_001146039,NM_152281;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GORAB:NM_001146039:exon1:c.A96C:p.G32G,GORAB:NM_152281:exon1:c.A96C:p.G32G;Gencode=Name\x3eENST00000367762.1,ENST00000367763.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7322;1000g2015aug_amr=0.987;1000g2015aug_all=0.927516;esp6500siv2_all=0.9355;ExAC_ALL=0.9797;ExAC_AFR=0.7979;ExAC_AMR=0.9858;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9973;ExAC_OTH=0.9923;ExAC_SAS=0.9996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,98:99:99:3242,286,0 1 170501456 rs11578119 C T 1259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.476;DP=120;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.012;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGORAB,LOC101928650;Func=ncRNA_intronic;Gene=NR_125958;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367763.7,ENST00000367762.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0159;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.2695;1000g2015aug_all=0.144768;esp6500siv2_all=0.2742;ExAC_ALL=0.2695;ExAC_AFR=0.0768;ExAC_AMR=0.2030;ExAC_EAS=0.0038;ExAC_FIN=0.3175;ExAC_NFE=0.3633;ExAC_OTH=0.2781;ExAC_SAS=0.1748;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,50:119:99:1288,0,1691 1 170502517 rs1412892 A G 436.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGORAB;Func=intronic;Gene=NM_001146039,NM_001320252,NM_152281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367762.1,ENST00000367763.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1412892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.711;1000g2015aug_amr=0.9841;1000g2015aug_all=0.921526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:465,36,0 1 170511604 rs7538037 T C 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.505;DP=30;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=1.102;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGORAB;Func=intronic;Gene=NM_001146039,NM_001320252,NM_152281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367763.7,ENST00000367762.1;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.3761;1000g2015aug_all=0.369808;esp6500siv2_all=0.2535;ExAC_ALL=0.3837;ExAC_AFR=0.0870;ExAC_AMR=0.5079;ExAC_EAS=0.7106;ExAC_FIN=0.3930;ExAC_NFE=0.3349;ExAC_OTH=0.4013;ExAC_SAS=0.4948;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,16:30:99:510,0,361 1 170521650 rs7552922 T G 95.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.1;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.619;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGORAB;Func=UTR3;Gene=NM_001320252,NM_152281;GeneDetail=NM_001320252:c.*47T>G\x3bNM_152281:c.*47T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367763.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552922;cosmic70=.;CLNALLELEID=278447;CLNDN=Geroderma_osteodysplastica;CLNDISDB=MedGen:C0432255,OMIM:231070,Orphanet:ORPHA2078,SNOMED_CT:254116003;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.1382;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.1153;1000g2015aug_all=0.197085;esp6500siv2_all=0.1672;ExAC_ALL=0.1597;ExAC_AFR=0.2271;ExAC_AMR=0.0952;ExAC_EAS=0.0922;ExAC_FIN=0.1151;ExAC_NFE=0.1349;ExAC_OTH=0.1876;ExAC_SAS=0.3149;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:60:124,0,60 1 170633111 rs564020 T G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_006902,NM_022716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239461.10,ENST00000367760.7,ENST00000497230.2;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs564020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 170633119 rs563991 T G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_006902,NM_022716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239461.10,ENST00000497230.2,ENST00000367760.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs563991;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 170633142 rs645617 C G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_006902,NM_022716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239461.10,ENST00000497230.2,ENST00000367760.7;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs645617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 170699674 rs76964094 T C 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.361;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.246;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRX1;Func=intronic;Gene=NM_006902,NM_022716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367760.7,ENST00000239461.10;cytoBand=1q24.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76964094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.0666;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0778;1000g2015aug_all=0.0303514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:212,0,295 1 170874498 rs12134732 G T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022716,NM_001163629;GeneDetail=dist\x3e165957\x3bdist\x3e30114;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1341\x3bName\x3e"301209:L1MEi(LINE)";avsnp150=rs12134732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.2046;1000g2015aug_all=0.219449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 170874522 rs12142351 C A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022716,NM_001163629;GeneDetail=dist\x3e165981\x3bdist\x3e30090;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1341\x3bName\x3e"301209:L1MEi(LINE)";avsnp150=rs12142351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.2046;1000g2015aug_all=0.219249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 170916646 rs4656817 G T 1265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.089;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.106;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=intronic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367759.8,ENST00000367758.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4656817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2666;1000g2015aug_all=0.250399;esp6500siv2_all=0.1780;ExAC_ALL=0.2321;ExAC_AFR=0.1389;ExAC_AMR=0.3192;ExAC_EAS=0.3466;ExAC_FIN=0.1709;ExAC_NFE=0.1890;ExAC_OTH=0.2156;ExAC_SAS=0.3672;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,52:90:99:1294,0,1030 1 170927439 rs535471306 A C 516.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.503;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.143;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=intronic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367758.7,ENST00000367759.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs535471306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:545,0,570 1 170928671 rs2294740 T C 843.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.244;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.32;SOR=0.607;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=exonic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH9:NM_001163629:exon5:c.T221C:p.V74A,MROH9:NM_025063:exon5:c.T221C:p.V74A;Gencode=Name\x3eENST00000367759.8,ENST00000367758.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.2176;1000g2015aug_all=0.2502;esp6500siv2_all=0.1437;ExAC_ALL=0.2114;ExAC_AFR=0.0970;ExAC_AMR=0.2289;ExAC_EAS=0.4806;ExAC_FIN=0.0887;ExAC_NFE=0.1612;ExAC_OTH=0.1674;ExAC_SAS=0.3807;SIFT_score=0.018;SIFT_pred=D;Polyphen2_HDIV_score=0.628;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.318;Polyphen2_HVAR_pred=B;LRT_score=0.481;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=4.08;FATHMM_pred=T;phyloP100way_vertebrate=1.333;phyloP20way_mammalian=1.057;SiPhy_29way_logOdds=5.667;gerp++gt2=3.24;CADD=1.008;CADD_Phred=10.71;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,32:59:99:872,0,729 1 170928973 rs2294741 T C 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.061;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=intronic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367759.8,ENST00000367758.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.2176;1000g2015aug_all=0.2502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:216,0,216 1 170929213 rs6695676 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=intronic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367759.8,ENST00000367758.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.9049;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.9682;1000g2015aug_amr=0.7262;1000g2015aug_all=0.874401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 170952652 rs112394419 C A 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.053;DP=47;ExcessHet=3.0103;FS=1.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.307;SOR=0.592;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=exonic;Gene=NM_001163629,NM_025063;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MROH9:NM_001163629:exon9:c.C706A:p.Q236K,MROH9:NM_025063:exon9:c.C706A:p.Q236K;Gencode=Name\x3eENST00000367758.7,ENST00000367759.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112394419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00279553;esp6500siv2_all=0.0067;ExAC_ALL=0.0063;ExAC_AFR=0.0024;ExAC_AMR=0.0039;ExAC_EAS=0;ExAC_FIN=0.0142;ExAC_NFE=0.0085;ExAC_OTH=0.0034;ExAC_SAS=0.0020;SIFT_score=0.922;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.064;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.77;MutationAssessor_pred=N;FATHMM_score=4.08;FATHMM_pred=T;phyloP100way_vertebrate=-0.164;phyloP20way_mammalian=-0.643;SiPhy_29way_logOdds=7.38;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,29:47:99:602,0,339 1 171033543 rs17346404 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMROH9;Func=UTR3;Gene=NM_001163629;GeneDetail=NM_001163629:c.*62C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367759.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17346404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0583;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.1124;1000g2015aug_all=0.0551118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 171061990 rs2064074 A G 889.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.765;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.065;SOR=0.774;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2064074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.5389;1000g2015aug_all=0.473043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,34:61:99:918,0,738 1 171069959 rs12076145 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.981;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1391\x3bName\x3e"301513:MLT1D(LTR)";avsnp150=rs12076145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.5504;1000g2015aug_all=0.48722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 171070472 rs12404455 G T 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.63;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1391\x3bName\x3e"301513:MLT1D(LTR)";avsnp150=rs12404455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0950479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:254,0,254 1 171072862 rs28363536 G T 714.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.534;DP=59;ExcessHet=3.0103;FS=2.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.448;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28363536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,31:59:99:743,0,686 1 171076966 rs2266782 G A 1103.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.716;DP=85;ExcessHet=3.0103;FS=1.796;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.121;SOR=0.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=exonic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMO3:NM_001319174:exon3:c.G283A:p.E95K,FMO3:NM_001002294:exon4:c.G472A:p.E158K,FMO3:NM_006894:exon4:c.G472A:p.E158K,FMO3:NM_001319173:exon5:c.G412A:p.E138K;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2266782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1905;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.3199;1000g2015aug_all=0.347843;esp6500siv2_all=0.4290;ExAC_ALL=0.3830;ExAC_AFR=0.4666;ExAC_AMR=0.3075;ExAC_EAS=0.2031;ExAC_FIN=0.4513;ExAC_NFE=0.4130;ExAC_OTH=0.4064;ExAC_SAS=0.3273;SIFT_score=0.562;SIFT_pred=T;Polyphen2_HDIV_score=0.481;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.164;Polyphen2_HVAR_pred=B;LRT_score=0.071;LRT_pred=N;MutationTaster_score=0.992;MutationTaster_pred=P;MutationAssessor_score=1.185;MutationAssessor_pred=L;FATHMM_score=0.5;FATHMM_pred=T;phyloP100way_vertebrate=0.221;phyloP20way_mammalian=0.918;SiPhy_29way_logOdds=10.54;gerp++gt2=3.78;CADD=2.855;CADD_Phred=21.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,49:85:99:1132,0,938 1 171077165 rs2066529 G A 1371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.411;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.241;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.085;1000g2015aug_all=0.0976438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,46:70:99:1400,0,606 1 171077198 rs1920149 G A 1439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.191;DP=86;ExcessHet=3.0103;FS=3.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.378;SOR=0.391;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1920149;cosmic70=.;CLNALLELEID=249539;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.5648;1000g2015aug_all=0.538538;esp6500siv2_all=0.5464;ExAC_ALL=0.5049;ExAC_AFR=0.7018;ExAC_AMR=0.6087;ExAC_EAS=0.4037;ExAC_FIN=0.4944;ExAC_NFE=0.4681;ExAC_OTH=0.4934;ExAC_SAS=0.5148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,55:86:99:1468,0,786 1 171080080 rs1736557 G A 228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.203;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.752;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=exonic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMO3:NM_001319174:exon5:c.G580A:p.V194M,FMO3:NM_001002294:exon6:c.G769A:p.V257M,FMO3:NM_006894:exon6:c.G769A:p.V257M,FMO3:NM_001319173:exon7:c.G709A:p.V237M;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1736557;cosmic70=.;CLNALLELEID=31344;CLNDN=Trimethylaminuria|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.025;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0976438;esp6500siv2_all=0.0584;ExAC_ALL=0.0805;ExAC_AFR=0.0367;ExAC_AMR=0.0869;ExAC_EAS=0.2004;ExAC_FIN=0.0461;ExAC_NFE=0.0701;ExAC_OTH=0.0672;ExAC_SAS=0.0976;SIFT_score=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.043;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.188;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.595;MutationAssessor_pred=N;FATHMM_score=0.58;FATHMM_pred=T;phyloP100way_vertebrate=-1.350;phyloP20way_mammalian=-1.563;SiPhy_29way_logOdds=14.624;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:257,0,215 1 171083174 rs909530 C T 1794.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.103;DP=154;ExcessHet=3.0103;FS=6.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.842;SOR=1.21;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=exonic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMO3:NM_001319174:exon6:c.C666T:p.N222N,FMO3:NM_001002294:exon7:c.C855T:p.N285N,FMO3:NM_006894:exon7:c.C855T:p.N285N,FMO3:NM_001319173:exon8:c.C795T:p.N265N;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs909530;cosmic70=.;CLNALLELEID=249543;CLNDN=Trimethylaminuria|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.3487;1000g2015aug_all=0.333666;esp6500siv2_all=0.3075;ExAC_ALL=0.2891;ExAC_AFR=0.4355;ExAC_AMR=0.4001;ExAC_EAS=0.3680;ExAC_FIN=0.2902;ExAC_NFE=0.2478;ExAC_OTH=0.2388;ExAC_SAS=0.2466;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,70:154:99:1823,0,2100 1 171083242 rs2266780 A G 2824.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.135;DP=217;ExcessHet=3.0103;FS=3.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.652;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=exonic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMO3:NM_001319174:exon6:c.A734G:p.E245G,FMO3:NM_001002294:exon7:c.A923G:p.E308G,FMO3:NM_006894:exon7:c.A923G:p.E308G,FMO3:NM_001319173:exon8:c.A863G:p.E288G;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2266780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0821;1000g2015aug_all=0.0914537;esp6500siv2_all=0.1390;ExAC_ALL=0.1529;ExAC_AFR=0.0388;ExAC_AMR=0.0848;ExAC_EAS=0.1832;ExAC_FIN=0.2492;ExAC_NFE=0.1949;ExAC_OTH=0.1435;ExAC_SAS=0.0491;SIFT_score=0.199;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.28;MutationAssessor_pred=L;FATHMM_score=0.02;FATHMM_pred=T;phyloP100way_vertebrate=5.309;phyloP20way_mammalian=1.088;SiPhy_29way_logOdds=11.405;gerp++gt2=3.58;CADD=4.219;CADD_Phred=23.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:103,114:217:99:2853,0,2657 1 171083537 rs909531 T C 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.824;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.927;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO3;Func=intronic;Gene=NM_001002294,NM_001319173,NM_001319174,NM_006894;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367755.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs909531;cosmic70=.;CLNALLELEID=249545;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1687;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.175;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.1225;1000g2015aug_all=0.193291;esp6500siv2_all=0.2408;ExAC_ALL=0.2088;ExAC_AFR=0.3916;ExAC_AMR=0.1315;ExAC_EAS=0.2176;ExAC_FIN=0.2747;ExAC_NFE=0.2263;ExAC_OTH=0.1805;ExAC_SAS=0.0564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:240,0,305 1 171112490 rs1736565 C T 740.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1736565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.6542;1000g2015aug_all=0.637979;esp6500siv2_all=.;ExAC_ALL=0.6040;ExAC_AFR=0.7447;ExAC_AMR=0.6053;ExAC_EAS=0.6932;ExAC_FIN=0.5396;ExAC_NFE=0.5621;ExAC_OTH=0.5988;ExAC_SAS=0.6264;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.022;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.763;phyloP20way_mammalian=-0.016;SiPhy_29way_logOdds=17.439;gerp++gt2=4.62;CADD=12.229;CADD_Phred=39;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:769,66,0 1 171115483 rs72712685 A G 416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.002;DP=29;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.395;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72712685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.171;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0879;1000g2015aug_all=0.103634;esp6500siv2_all=.;ExAC_ALL=0.1376;ExAC_AFR=0.0779;ExAC_AMR=0.1284;ExAC_EAS=0.2124;ExAC_FIN=0.2597;ExAC_NFE=0.1820;ExAC_OTH=0.1798;ExAC_SAS=0.0710;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,16:29:99:445,0,388 1 171115567 rs11812044 G A 551.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.408;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11812044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.171;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0879;1000g2015aug_all=0.103634;esp6500siv2_all=.;ExAC_ALL=0.1192;ExAC_AFR=0.0747;ExAC_AMR=0.1130;ExAC_EAS=0.1865;ExAC_FIN=0.2611;ExAC_NFE=0.1648;ExAC_OTH=0.1587;ExAC_SAS=0.0570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,24:50:99:580,0,648 1 171115645 rs11812061 G T 478.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.237;DP=36;ExcessHet=3.0103;FS=1.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.127;SOR=0.374;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_exonic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11812061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.0879;1000g2015aug_all=0.104034;esp6500siv2_all=.;ExAC_ALL=0.1172;ExAC_AFR=0.0716;ExAC_AMR=0.1096;ExAC_EAS=0.1865;ExAC_FIN=0.2608;ExAC_NFE=0.1603;ExAC_OTH=0.1553;ExAC_SAS=0.0570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:507,0,529 1 171116603 rs7066454 G T 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.752;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7066454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0879;1000g2015aug_all=0.103834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:196,0,280 1 171116760 rs7063044 C T 1503.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.723;DP=132;ExcessHet=3.0103;FS=5.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.085;SOR=1.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7063044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0879;1000g2015aug_all=0.10623;esp6500siv2_all=.;ExAC_ALL=0.1262;ExAC_AFR=0.0858;ExAC_AMR=0.1162;ExAC_EAS=0.1912;ExAC_FIN=0.2676;ExAC_NFE=0.1714;ExAC_OTH=0.1557;ExAC_SAS=0.0623;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,59:132:99:1532,0,1926 1 171117113 rs6608452 C T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.703;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6608452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.173;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.1009;1000g2015aug_all=0.13099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:95:185,0,95 1 171117140 rs6608453 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6608453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0879;1000g2015aug_all=0.103834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 171118738 rs183409268 C T 1161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.11;DP=102;ExcessHet=3.0103;FS=0.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.44;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_exonic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs183409268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0006;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.952;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=1.558;phyloP20way_mammalian=-0.449;SiPhy_29way_logOdds=8.870;gerp++gt2=2.86;CADD=3.458;CADD_Phred=23.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,47:102:99:1190,0,1446 1 171119021 rs1795244 T C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.792;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO6P;Func=ncRNA_intronic;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1795244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.6455;1000g2015aug_all=0.654752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,218 1 171130717 rs76012774 T C 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_002601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76012774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0732827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:73,0,33 1 171154959 rs2020870 A G 2031.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=153;ExcessHet=3.0103;FS=3.787;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.057;SOR=0.996;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=exonic;Gene=NM_001460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMO2:NM_001460:exon2:c.A107G:p.D36G;Gencode=Name\x3eENST00000209929.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0920527;esp6500siv2_all=0.0671;ExAC_ALL=0.0815;ExAC_AFR=0.0677;ExAC_AMR=0.0502;ExAC_EAS=0.1343;ExAC_FIN=0.0540;ExAC_NFE=0.0741;ExAC_OTH=0.0936;ExAC_SAS=0.1245;SIFT_score=0.012;SIFT_pred=D;Polyphen2_HDIV_score=0.402;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.46;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.01;MutationAssessor_pred=M;FATHMM_score=-0.08;FATHMM_pred=T;phyloP100way_vertebrate=9.288;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=14.869;gerp++gt2=5.66;CADD=6.321;CADD_Phred=29.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,79:153:99:2060,0,1788 1 171155103 rs6657314 C T 469.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.164;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-1.035;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=intronic;Gene=NM_001301347,NM_001460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000209929.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.6311;1000g2015aug_all=0.654153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:498,0,577 1 171168584 rs2020862 C T 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.013;DP=68;ExcessHet=3.0103;FS=1.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.401;SOR=0.463;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=exonic;Gene=NM_001460;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMO2:NM_001460:exon5:c.C584T:p.S195L;Gencode=Name\x3eENST00000209929.9,ENST00000422841.5;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.5;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.5265;1000g2015aug_amr=0.4827;1000g2015aug_all=0.472843;esp6500siv2_all=0.3788;ExAC_ALL=0.3960;ExAC_AFR=0.5073;ExAC_AMR=0.5274;ExAC_EAS=0.5607;ExAC_FIN=0.2821;ExAC_NFE=0.3234;ExAC_OTH=0.3711;ExAC_SAS=0.4883;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.238;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.366;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=5.1;MutationAssessor_pred=H;FATHMM_score=0.18;FATHMM_pred=T;phyloP100way_vertebrate=7.796;phyloP20way_mammalian=0.931;SiPhy_29way_logOdds=19.651;gerp++gt2=6.17;CADD=6.057;CADD_Phred=28.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,25:68:99:900,0,2588 1 171168585 rs2020861 A G 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.474;DP=67;ExcessHet=3.0103;FS=1.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.196;SOR=0.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=exonic;Gene=NM_001460;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMO2:NM_001460:exon5:c.A585G:p.S195S;Gencode=Name\x3eENST00000422841.5,ENST00000209929.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2020861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.6167;1000g2015aug_all=0.589257;esp6500siv2_all=0.5028;ExAC_ALL=0.5021;ExAC_AFR=0.6882;ExAC_AMR=0.6801;ExAC_EAS=0.6039;ExAC_FIN=0.3936;ExAC_NFE=0.4188;ExAC_OTH=0.4879;ExAC_SAS=0.5887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,24:67:99:900,0,2588 1 171168693 rs7542361 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.875;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=0.798;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=intronic;Gene=NM_001301347,NM_001460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000209929.9,ENST00000422841.5;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.0807;1000g2015aug_all=0.130391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,4:18:99:113,0,482 1 171177119 rs2075989 T C 277.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.605;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.15;ReadPosRankSum=1.645;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO2;Func=intronic;Gene=NM_001301347,NM_001460;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422841.5,ENST00000209929.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e346\x3bName\x3e"301704:MER5A(DNA)";avsnp150=rs2075989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.0735;1000g2015aug_all=0.102436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,9:12:89:306,0,89 1 171300959 rs2294482 T C 1215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.416;DP=89;ExcessHet=3.0103;FS=9.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.71;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO4;Func=intronic;Gene=NM_002022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367749.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.4006;1000g2015aug_all=0.284545;esp6500siv2_all=0.2048;ExAC_ALL=0.2661;ExAC_AFR=0.1547;ExAC_AMR=0.4836;ExAC_EAS=0.4636;ExAC_FIN=0.1616;ExAC_NFE=0.2320;ExAC_OTH=0.2379;ExAC_SAS=0.2617;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,45:88:99:1244,0,1154 1 171301033 rs2294483 C G 449.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=45;ExcessHet=3.0103;FS=1.45;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-2.585;SOR=1.201;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO4;Func=intronic;Gene=NM_002022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367749.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.589;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.5677;1000g2015aug_all=0.566094;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,18:45:99:478,0,1112 1 171302094 rs4140632 A C 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-1.265;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO4;Func=intronic;Gene=NM_002022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367749.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4140632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.589;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.5778;1000g2015aug_all=0.58766;esp6500siv2_all=0.5620;ExAC_ALL=0.5387;ExAC_AFR=0.7551;ExAC_AMR=0.6809;ExAC_EAS=0.5319;ExAC_FIN=0.4469;ExAC_NFE=0.4709;ExAC_OTH=0.4937;ExAC_SAS=0.5787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:322,0,322 1 171303925 rs3820170 C T 1224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.337;DP=94;ExcessHet=3.0103;FS=1.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.188;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMO4;Func=intronic;Gene=NM_002022;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367749.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.4304;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.5576;1000g2015aug_all=0.541733;esp6500siv2_all=0.4975;ExAC_ALL=0.4816;ExAC_AFR=0.6645;ExAC_AMR=0.6409;ExAC_EAS=0.4818;ExAC_FIN=0.3780;ExAC_NFE=0.4284;ExAC_OTH=0.4395;ExAC_SAS=0.5281;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,45:93:99:1253,0,1249 1 171382960 rs61816566 C T 111.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002022,NM_015172;GeneDetail=dist\x3e71737\x3bdist\x3e71706;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5241\x3bName\x3e"302082:LTR17(LTR)";avsnp150=rs61816566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.547;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.5375;1000g2015aug_all=0.510184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:139,12,0 1 171395913 rs4916384 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002022,NM_015172;GeneDetail=dist\x3e84690\x3bdist\x3e58753;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1946\x3bName\x3e"302122:MER1B(DNA)";avsnp150=rs4916384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.6657;1000g2015aug_all=0.544129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 171457707 rs6661903 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000392078.7,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e693\x3bName\x3e"302299:FLAM_A(SINE)";avsnp150=rs6661903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.9308;1000g2015aug_all=0.925319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 171482686 rs2294292 A T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000392078.7,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e279\x3bName\x3e"302364:L2a(LINE)";avsnp150=rs2294292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1195;1000g2015aug_amr=0.1167;1000g2015aug_all=0.135383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 171482699 rs2294293 G C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426496.6,ENST00000392078.7,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e279\x3bName\x3e"302364:L2a(LINE)";avsnp150=rs2294293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1182;1000g2015aug_all=0.133986;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 171483717 rs1055417 A C 1476.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.906;DP=120;ExcessHet=3.0103;FS=6.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.219;SOR=1.327;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRRC2C:NM_015172:exon4:c.A327C:p.A109A;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000392078.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.1167;1000g2015aug_all=0.128195;esp6500siv2_all=0.1427;ExAC_ALL=0.2280;ExAC_AFR=0.1604;ExAC_AMR=0.2306;ExAC_EAS=0.1285;ExAC_FIN=0.2128;ExAC_NFE=0.2435;ExAC_OTH=0.2055;ExAC_SAS=0.2446;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,53:120:99:1505,0,1808 1 171491264 rs3736679 T A 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.198;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.322;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000392078.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.497;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.5;1000g2015aug_all=0.530351;esp6500siv2_all=.;ExAC_ALL=0.5321;ExAC_AFR=0.5241;ExAC_AMR=0.5211;ExAC_EAS=0.6281;ExAC_FIN=0.5198;ExAC_NFE=0.5230;ExAC_OTH=0.5181;ExAC_SAS=0.5382;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:231,0,167 1 171493528 rs7536075 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426496.6,ENST00000392078.7,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8538;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.732;1000g2015aug_all=0.807308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 171493532 rs7538827 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367742.7,ENST00000392078.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.7262;1000g2015aug_all=0.801518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 171496752 rs10913176 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000392078.7,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1913\x3bName\x3e"302391:AluSz6(SINE)";avsnp150=rs10913176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8131;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7349;1000g2015aug_all=0.809904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 171496875 rs139849492 A G 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.893;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=-0.071;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000392078.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1913\x3bName\x3e"302391:AluSz6(SINE)";avsnp150=rs139849492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1441;1000g2015aug_all=0.135184;esp6500siv2_all=0.1233;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:99:273,0,125 1 171496895 rs10753126 A G 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000392078.7,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1913\x3bName\x3e"302391:AluSz6(SINE)";avsnp150=rs10753126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7349;1000g2015aug_all=0.810903;esp6500siv2_all=0.8021;ExAC_ALL=0.8396;ExAC_AFR=0.7794;ExAC_AMR=0.7636;ExAC_EAS=0.8986;ExAC_FIN=0.8448;ExAC_NFE=0.8284;ExAC_OTH=0.8389;ExAC_SAS=0.8838;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 171506261 rs2272809 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.732;1000g2015aug_all=0.807708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 171509014 rs12734261 T C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.484;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426496.6,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12734261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1839;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.1182;1000g2015aug_all=0.133586;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:70:146,0,70 1 171509058 rs2015996 G A 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2015996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.732;1000g2015aug_all=0.807508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 171509327 rs760644 G A 1552.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRRC2C:NM_015172:exon16:c.G2716A:p.A906T;Gencode=Name\x3eENST00000426496.6,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs760644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.7248;1000g2015aug_all=0.800919;esp6500siv2_all=0.7948;ExAC_ALL=0.8174;ExAC_AFR=0.7589;ExAC_AMR=0.6915;ExAC_EAS=0.8896;ExAC_FIN=0.8541;ExAC_NFE=0.8200;ExAC_OTH=0.8293;ExAC_SAS=0.8784;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.405;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.085;MutationAssessor_pred=N;FATHMM_score=3.12;FATHMM_pred=T;phyloP100way_vertebrate=0.088;phyloP20way_mammalian=-0.418;SiPhy_29way_logOdds=14.179;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1581,138,0 1 171511039 rs1687064 C G 2167.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=1.092;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S;Gencode=Name\x3eENST00000426496.6,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1687064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7349;1000g2015aug_all=0.810304;esp6500siv2_all=0.7975;ExAC_ALL=0.8193;ExAC_AFR=0.7788;ExAC_AMR=0.6929;ExAC_EAS=0.8893;ExAC_FIN=0.8544;ExAC_NFE=0.8200;ExAC_OTH=0.8259;ExAC_SAS=0.8789;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2196,188,0 1 171511442 rs2272810 A G 109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.74;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.183;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.493;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.4712;1000g2015aug_all=0.43151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,6:26:99:138,0,585 1 171514731 rs235468 C G 716.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.7305;1000g2015aug_all=0.804712;esp6500siv2_all=0.7929;ExAC_ALL=0.8232;ExAC_AFR=0.7657;ExAC_AMR=0.7051;ExAC_EAS=0.8937;ExAC_FIN=0.8562;ExAC_NFE=0.8253;ExAC_OTH=0.8345;ExAC_SAS=0.8812;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.547;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.416;Polyphen2_HVAR_pred=B;LRT_score=0.839;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=4.48;FATHMM_pred=T;phyloP100way_vertebrate=1.442;phyloP20way_mammalian=0.931;SiPhy_29way_logOdds=11.420;gerp++gt2=3.27;CADD=1.629;CADD_Phred=14.01;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:745,69,0 1 171519487 rs235470 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.7262;1000g2015aug_all=0.801318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 171525260 rs235481 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426496.6,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23116\x3bName\x3e"302431:L1PA6(LINE)";avsnp150=rs235481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.7305;1000g2015aug_all=0.804513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 171526570 rs1687057 G A 2383.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P;Gencode=Name\x3eENST00000426496.6,ENST00000367742.7,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e92\x3bName\x3e"302433:(CAGCTC)n(Simple_repeat)";avsnp150=rs1687057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7349;1000g2015aug_all=0.810304;esp6500siv2_all=0.8100;ExAC_ALL=0.8393;ExAC_AFR=0.7713;ExAC_AMR=0.7621;ExAC_EAS=0.8738;ExAC_FIN=0.8428;ExAC_NFE=0.8230;ExAC_OTH=0.8304;ExAC_SAS=0.8835;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2412,216,0 1 171527322 rs235482 A G 665.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.7349;1000g2015aug_all=0.810503;esp6500siv2_all=0.798;ExAC_ALL=0.8177;ExAC_AFR=0.7781;ExAC_AMR=0.6971;ExAC_EAS=0.8913;ExAC_FIN=0.8548;ExAC_NFE=0.8199;ExAC_OTH=0.8240;ExAC_SAS=0.8791;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:694,60,0 1 171535180 rs1626990 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1626990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.7209;1000g2015aug_amr=0.732;1000g2015aug_all=0.796925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 171543863 rs235509 G T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7291;1000g2015aug_all=0.790935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 171546833 rs6685179 C A 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.143;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-1.276;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.562;1000g2015aug_amr=0.6081;1000g2015aug_all=0.654153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:223,0,141 1 171546912 rs10659826 T A 101.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2043\x3bName\x3e"302464:AluJb(SINE)";avsnp150=rs10659826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:129,9,0 1 171546913 rs6693043 T A 101.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2043\x3bName\x3e"302464:AluJb(SINE)";avsnp150=rs6693043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:129,9,0 1 171548772 rs235488 A G 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.242;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.1153;1000g2015aug_all=0.13099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,221 1 171548868 rs235489 T C 198.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.7349;1000g2015aug_all=0.816893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:227,18,0 1 171553778 rs235495 A G 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.55;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.98;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.1153;1000g2015aug_all=0.127995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,221 1 171553851 rs235496 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000367742.7,ENST00000426496.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.7305;1000g2015aug_all=0.79373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 171556165 rs235501 G C 1458.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=2.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=exonic;Gene=NM_015172;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S;Gencode=Name\x3eENST00000367742.7,ENST00000426496.6,ENST00000338920.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8958;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.732;1000g2015aug_all=0.793131;esp6500siv2_all=0.7880;ExAC_ALL=0.8190;ExAC_AFR=0.7559;ExAC_AMR=0.7101;ExAC_EAS=0.8898;ExAC_FIN=0.8549;ExAC_NFE=0.8230;ExAC_OTH=0.8249;ExAC_SAS=0.8624;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1487,132,0 1 171558516 rs235503 C T 764.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.58;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRRC2C;Func=intronic;Gene=NM_015172;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338920.8,ENST00000426496.6,ENST00000367742.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs235503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.8211;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.7334;1000g2015aug_all=0.796925;esp6500siv2_all=.;ExAC_ALL=0.8503;ExAC_AFR=0.7891;ExAC_AMR=0.8065;ExAC_EAS=0.865;ExAC_FIN=0.5;ExAC_NFE=0.8285;ExAC_OTH=0.8636;ExAC_SAS=0.8656;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:793,60,0 1 171606054 rs12076134 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOC;Func=intronic;Gene=NM_000261;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614688.1,ENST00000037502.10;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e791\x3bName\x3e"302593:MIR(SINE)";avsnp150=rs12076134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.2104;1000g2015aug_all=0.237819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 171607702 rs2032555 C T 1374.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOC;Func=intronic;Gene=NM_000261;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614688.1,ENST00000037502.10;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2032555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7917;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.6542;1000g2015aug_all=0.784545;esp6500siv2_all=0.7588;ExAC_ALL=0.7287;ExAC_AFR=0.8606;ExAC_AMR=0.5750;ExAC_EAS=0.7766;ExAC_FIN=0.7071;ExAC_NFE=0.7097;ExAC_OTH=0.7280;ExAC_SAS=0.8141;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1403,126,0 1 171621525 rs2234926 C T 1673.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.887;DP=156;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.768;SOR=0.685;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOC;Func=exonic;Gene=NM_000261;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYOC:NM_000261:exon1:c.G227A:p.R76K;Gencode=Name\x3eENST00000614688.1,ENST00000037502.10;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2234926;cosmic70=.;CLNALLELEID=190231;CLNDN=Primary_open_angle_glaucoma|Glaucoma|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0012108,MedGen:C0339573,OMIM:137760,SNOMED_CT:77075001|MedGen:C0017601|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.1023;1000g2015aug_all=0.136182;esp6500siv2_all=0.0982;ExAC_ALL=0.1501;ExAC_AFR=0.0230;ExAC_AMR=0.0994;ExAC_EAS=0.0834;ExAC_FIN=0.1672;ExAC_NFE=0.1365;ExAC_OTH=0.1597;ExAC_SAS=0.3488;SIFT_score=0.049;SIFT_pred=D;Polyphen2_HDIV_score=0.984;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.956;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=P;MutationAssessor_score=2.765;MutationAssessor_pred=M;FATHMM_score=0.2;FATHMM_pred=T;phyloP100way_vertebrate=2.859;phyloP20way_mammalian=0.016;SiPhy_29way_logOdds=11.297;gerp++gt2=3.43;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,69:155:99:1702,0,2376 1 171621834 rs2075648 C T 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.861;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.268;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000261;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1037;1000g2015aug_all=0.137979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:304,0,515 1 171675296 rs236899 A G 358.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.839;DP=32;ExcessHet=3.0103;FS=5.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.396;SOR=0.595;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAMP4;Func=intronic;Gene=NM_001185127,NM_003762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236192.11,ENST00000367740.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e378\x3bName\x3e"302750:Charlie4z(DNA)";avsnp150=rs236899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.091;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.1124;1000g2015aug_all=0.109625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,16:32:99:387,0,436 1 171707272 rs10753179 T C 494.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.76;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVAMP4;Func=intronic;Gene=NM_001185127,NM_003762;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236192.11,ENST00000367740.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1507\x3bName\x3e"302821:AluJo(SINE)";avsnp150=rs10753179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.729;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.671;1000g2015aug_amr=0.5;1000g2015aug_all=0.632188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:523,42,0 1 171750854 rs2294718 C G 2930.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=2.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=UTR5;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=NM_001007239:c.-254C>G\x3bNM_014955:c.-2131C>G\x3bNM_015935:c.-254C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361735.3,ENST00000367737.9,ENST00000362019.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.1138;1000g2015aug_all=0.105032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2959,261,0 1 171751051 rs2294719 A G 4748.77 PASS AC=2;AF=1;AN=2;DP=147;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.125;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=UTR5;Gene=NM_001007239,NM_015935;GeneDetail=NM_001007239:c.-57A>G\x3bNM_015935:c.-57A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362019.7,ENST00000367737.9,ENST00000361735.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.4092;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,147:147:99:4777,440,0 1 171751236 rs2294720 T C 1871.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=exonic;Gene=NM_001007239,NM_015935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.73;1000g2015aug_amr=0.4395;1000g2015aug_all=0.533746;esp6500siv2_all=0.5479;ExAC_ALL=0.4706;ExAC_AFR=0.7;ExAC_AMR=0.3750;ExAC_EAS=0.6442;ExAC_FIN=0.4678;ExAC_NFE=0.4684;ExAC_OTH=0.4758;ExAC_SAS=0.3118;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1900,180,0 1 171751416 rs7541128 G A 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.3;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.4222;1000g2015aug_all=0.51238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 171751439 rs6425415 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367737.9,ENST00000362019.7,ENST00000361735.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2258\x3bName\x3e"302908:AluJo(SINE)";avsnp150=rs6425415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7103;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.6342;1000g2015aug_afr=0.9743;1000g2015aug_amr=0.5994;1000g2015aug_all=0.754792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 171754799 rs732305 G A 176.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs732305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.4092;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:205,18,0 1 171754865 rs732304 A G 461.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs732304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5961;1000g2015aug_amr=0.415;1000g2015aug_all=0.494808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:490,45,0 1 171755182 rs2232819 G A 2286.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=1.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=exonic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=METTL13:NM_001007239:exon3:c.G609A:p.M203I,METTL13:NM_014955:exon3:c.G819A:p.M273I,METTL13:NM_015935:exon3:c.G1077A:p.M359I;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1968;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.1138;1000g2015aug_all=0.105032;esp6500siv2_all=0.1449;ExAC_ALL=0.1531;ExAC_AFR=0.0405;ExAC_AMR=0.0865;ExAC_EAS=0.1098;ExAC_FIN=0.1828;ExAC_NFE=0.1965;ExAC_OTH=0.1659;ExAC_SAS=0.1040;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.376;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.164;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.24;MutationAssessor_pred=M;FATHMM_score=1.0;FATHMM_pred=T;phyloP100way_vertebrate=9.579;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=18.032;gerp++gt2=5.36;CADD=3.231;CADD_Phred=22.8;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2315,210,0 1 171757204 rs17650310 A G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.99;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362019.7,ENST00000367737.9,ENST00000361735.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17650310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.1225;1000g2015aug_all=0.178514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 171761458 rs2232824 T C 6994.77 PASS AC=2;AF=1;AN=2;DP=222;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=intronic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361735.3,ENST00000367737.9,ENST00000362019.7;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.121;1000g2015aug_all=0.173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,222:222:99:7023,665,0 1 171763549 rs2232825 C T 3183.77 PASS AC=2;AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=1.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=exonic;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=METTL13:NM_001007239:exon7:c.C1239T:p.Y413Y,METTL13:NM_014955:exon7:c.C1449T:p.Y483Y,METTL13:NM_015935:exon7:c.C1707T:p.Y569Y;Gencode=Name\x3eENST00000361735.3,ENST00000362019.7,ENST00000367737.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.093;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.1556;1000g2015aug_all=0.116414;esp6500siv2_all=0.1557;ExAC_ALL=0.1657;ExAC_AFR=0.0442;ExAC_AMR=0.1396;ExAC_EAS=0.1073;ExAC_FIN=0.2055;ExAC_NFE=0.2072;ExAC_OTH=0.1828;ExAC_SAS=0.1061;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,90:90:99:3212,270,0 1 171765964 rs1801898 A G 2478.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=5.01;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMETTL13;Func=UTR3;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=NM_001007239:c.*68A>G\x3bNM_014955:c.*68A>G\x3bNM_015935:c.*68A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367737.9,ENST00000362019.7,ENST00000361735.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1801898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.264;1000g2015aug_amr=0.121;1000g2015aug_all=0.173522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2507,193,0 1 171767372 rs2143369 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001007239,NM_014955,NM_015935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1177\x3bName\x3e"302934:AluJb(SINE)";avsnp150=rs2143369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1043;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1225;1000g2015aug_all=0.177716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 171784923 rs2421913 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014955,NM_001278252;GeneDetail=dist\x3e18067\x3bdist\x3e25695;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e264\x3bName\x3e"302979:L1MC5a(LINE)";avsnp150=rs2421913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.3977;1000g2015aug_all=0.415735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 171810960 rs12239702 A G 639.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=intronic;Gene=NM_001136127,NM_001278252,NM_001350204,NM_001350205,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000627582.2,ENST00000367733.6,ENST00000520906.5,ENST00000355305.9,ENST00000367731.5;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12239702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.6838;1000g2015aug_amr=0.5821;1000g2015aug_all=0.632788;esp6500siv2_all=0.6109;ExAC_ALL=0.5981;ExAC_AFR=0.6964;ExAC_AMR=0.6041;ExAC_EAS=0.7970;ExAC_FIN=0.6061;ExAC_NFE=0.5801;ExAC_OTH=0.5477;ExAC_SAS=0.5081;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:668,48,0 1 171855319 rs9425818 T C 31.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=intronic;Gene=NM_001136127,NM_001278252,NM_001350204,NM_001350205,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367733.6,ENST00000627582.2,ENST00000520906.5,ENST00000367731.5,ENST00000355305.9;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9425818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.4312;1000g2015aug_amr=0.4121;1000g2015aug_all=0.387181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:59,6,0 1 172038079 rs12760234 T C 1076.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.496;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.011;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=intronic;Gene=NM_001136127,NM_001278252,NM_001350204,NM_001350205,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000355305.9,ENST00000367731.5,ENST00000520906.5,ENST00000627582.2,ENST00000367733.6;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12760234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4076;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.3602;1000g2015aug_all=0.247404;esp6500siv2_all=0.2867;ExAC_ALL=0.3702;ExAC_AFR=0.1089;ExAC_AMR=0.3701;ExAC_EAS=0.1722;ExAC_FIN=0.4238;ExAC_NFE=0.4045;ExAC_OTH=0.3955;ExAC_SAS=0.4090;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,45:98:99:1105,0,1386 1 172277925 rs34870740 C T 1437.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.587;DP=113;ExcessHet=3.0103;FS=5.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.087;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=exonic;Gene=NM_001136127,NM_001350204,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNM3:NM_001136127:exon16:c.C1827T:p.V609V,DNM3:NM_015569:exon16:c.C1827T:p.V609V,DNM3:NM_001350204:exon17:c.C1857T:p.V619V,DNM3:NM_001350206:exon17:c.C1857T:p.V619V;Gencode=Name\x3eENST00000367731.5,ENST00000355305.9,ENST00000520906.5,ENST00000627582.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34870740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0419329;esp6500siv2_all=0.0550;ExAC_ALL=0.0635;ExAC_AFR=0.0113;ExAC_AMR=0.0324;ExAC_EAS=0.0074;ExAC_FIN=0.0466;ExAC_NFE=0.0724;ExAC_OTH=0.0643;ExAC_SAS=0.1159;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,58:112:99:1466,0,1394 1 172356437 rs6688654 A G 2229.77 PASS AC=2;AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.394;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=exonic;Gene=NM_001136127,NM_001350204,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNM3:NM_001136127:exon18:c.A2211G:p.T737T,DNM3:NM_001350204:exon19:c.A2241G:p.T747T,DNM3:NM_001350206:exon19:c.A2241G:p.T747T,DNM3:NM_015569:exon19:c.A2223G:p.T741T;Gencode=Name\x3eENST00000367731.5,ENST00000355305.9,ENST00000627582.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9871;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.996605;esp6500siv2_all=0.9894;ExAC_ALL=0.9919;ExAC_AFR=0.9984;ExAC_AMR=0.9969;ExAC_EAS=1;ExAC_FIN=0.9971;ExAC_NFE=0.9869;ExAC_OTH=0.9889;ExAC_SAS=0.9983;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,72:72:99:2258,216,0 1 172356582 rs2269612 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNM3;Func=intronic;Gene=NM_001136127,NM_001350204,NM_001350206,NM_015569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367731.5,ENST00000355305.9,ENST00000627582.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2547\x3bName\x3e"303920:AluYj4(SINE)";avsnp150=rs2269612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.0976;1000g2015aug_amr=0.6412;1000g2015aug_all=0.517372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 172410967 rs1063412 G A 3743.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=2.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGC,C1orf105;Func=exonic;Gene=NM_002642,NM_153747;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S;Gencode=Name\x3eENST00000367728.1,ENST00000367727.8,ENST00000344529.4;cytoBand=1q24.3;wgRna=.;genomicSuperDups=Score\x3e0.914912\x3bName\x3echr11:33075508;Repeat=.;avsnp150=rs1063412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6597;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.536;1000g2015aug_all=0.454273;esp6500siv2_all=0.4197;ExAC_ALL=0.5482;ExAC_AFR=0.1359;ExAC_AMR=0.6357;ExAC_EAS=0.6374;ExAC_FIN=0.5938;ExAC_NFE=0.5760;ExAC_OTH=0.5716;ExAC_SAS=0.5683;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.49;MutationAssessor_pred=L;FATHMM_score=0.36;FATHMM_pred=T;phyloP100way_vertebrate=9.185;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=12.321;gerp++gt2=4.24;CADD=5.066;CADD_Phred=25.3;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,108:108:99:3772,324,0 1 172411496 rs2230471 A G 1478.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105,PIGC;Func=exonic;Gene=NM_002642,NM_153747;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIGC:NM_002642:exon2:c.T267C:p.G89G,PIGC:NM_153747:exon2:c.T267C:p.G89G;Gencode=Name\x3eENST00000344529.4,ENST00000367727.8,ENST00000367728.1;cytoBand=1q24.3;wgRna=.;genomicSuperDups=Score\x3e0.914912\x3bName\x3echr11:33075508;Repeat=.;avsnp150=rs2230471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.9047;1000g2015aug_amr=0.9092;1000g2015aug_all=0.924121;esp6500siv2_all=0.8538;ExAC_ALL=0.8747;ExAC_AFR=0.8944;ExAC_AMR=0.9066;ExAC_EAS=0.9995;ExAC_FIN=0.7753;ExAC_NFE=0.8442;ExAC_OTH=0.8645;ExAC_SAS=0.9382;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1507,114,0 1 172417781 rs2157451 A G 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=intronic;Gene=NM_139240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367727.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e277\x3bName\x3e"303971:L2b(LINE)";avsnp150=rs2157451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9179;1000g2015aug_all=0.947484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 172425529 rs2285170 C G 2054.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=intronic;Gene=NM_001300760,NM_139240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367725.4,ENST00000367727.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2285170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.4914;1000g2015aug_all=0.419129;esp6500siv2_all=0.3671;ExAC_ALL=0.4924;ExAC_AFR=0.1047;ExAC_AMR=0.5986;ExAC_EAS=0.6326;ExAC_FIN=0.4941;ExAC_NFE=0.5058;ExAC_OTH=0.4867;ExAC_SAS=0.5325;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2083,201,0 1 172431210 rs4916261 G A 454.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=intronic;Gene=NM_001300760,NM_139240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367727.8,ENST00000367725.4;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4916261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.853;1000g2015aug_all=0.848043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:483,36,0 1 172434375 rs2901655 G A 331.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=intronic;Gene=NM_001300760,NM_139240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367727.8,ENST00000367725.4;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2901655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.853;1000g2015aug_all=0.847843;esp6500siv2_all=0.7613;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:360,30,0 1 172434812 rs2901656 C T 1219.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=intronic;Gene=NM_001300760,NM_139240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367727.8,ENST00000367725.4;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2901656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.493;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.5029;1000g2015aug_all=0.475639;esp6500siv2_all=.;ExAC_ALL=0.4491;ExAC_AFR=0.4234;ExAC_AMR=0.51;ExAC_EAS=0.6566;ExAC_FIN=.;ExAC_NFE=0.4690;ExAC_OTH=0.4833;ExAC_SAS=0.4361;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1248,114,0 1 172437592 rs1129942 G A 3041.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=2.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf105;Func=exonic;Gene=NM_001300760,NM_139240;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf105:NM_001300760:exon5:c.G380A:p.S127N,C1orf105:NM_139240:exon7:c.G410A:p.S137N;Gencode=Name\x3eENST00000367727.8,ENST00000367725.4;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1129942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.671;1000g2015aug_amr=0.8516;1000g2015aug_all=0.841254;esp6500siv2_all=0.7589;ExAC_ALL=0.8251;ExAC_AFR=0.7050;ExAC_AMR=0.8815;ExAC_EAS=0.9992;ExAC_FIN=0.7390;ExAC_NFE=0.8008;ExAC_OTH=0.8260;ExAC_SAS=0.9024;SIFT_score=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.04;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.91;FATHMM_pred=T;phyloP100way_vertebrate=-0.313;phyloP20way_mammalian=0.126;SiPhy_29way_logOdds=6.607;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:3070,264,0 1 172440159 rs1894635 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_139240,NM_016227;GeneDetail=dist\x3e2190\x3bdist\x3e61330;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1894635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9881;1000g2015aug_afr=1;1000g2015aug_amr=0.9928;1000g2015aug_all=0.996605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 172502479 rs2285144 T C 578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.367;DP=31;ExcessHet=3.0103;FS=1.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-0.402;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUCO;Func=exonic;Gene=NM_016227;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SUCO:NM_016227:exon2:c.T489C:p.I163I;Gencode=Name\x3eENST00000616058.4,ENST00000608151.5,ENST00000610051.5,ENST00000263688.3,ENST00000367723.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2285144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.4611;1000g2015aug_all=0.589457;esp6500siv2_all=0.6258;ExAC_ALL=0.6360;ExAC_AFR=0.7008;ExAC_AMR=0.4686;ExAC_EAS=0.4082;ExAC_FIN=0.6462;ExAC_NFE=0.5905;ExAC_OTH=0.6311;ExAC_SAS=0.6908;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,21:31:99:607,0,256 1 172539442 rs3752515 A G 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.809;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=0.931;SOR=0.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUCO;Func=intronic;Gene=NM_001282750,NM_001282751,NM_014283,NM_016227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616058.4,ENST00000608151.5,ENST00000610051.5,ENST00000263688.3,ENST00000367723.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3752515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.728;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.705;1000g2015aug_amr=0.4611;1000g2015aug_all=0.584465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,3:13:74:74,0,367 1 172544877 rs76108041 A C 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.984;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUCO;Func=intronic;Gene=NM_001282750,NM_001282751,NM_014283,NM_016227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000610051.5,ENST00000608151.5,ENST00000616058.4,ENST00000367723.8,ENST00000263688.3;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76108041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0663;1000g2015aug_all=0.034345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,262 1 172548301 rs41264544 C G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUCO;Func=intronic;Gene=NM_001282750,NM_001282751,NM_014283,NM_016227;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263688.3,ENST00000367723.8,ENST00000610051.5,ENST00000616058.4,ENST00000608151.5;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0341454;esp6500siv2_all=0.0717;ExAC_ALL=0.0707;ExAC_AFR=0.0177;ExAC_AMR=0.0522;ExAC_EAS=0.0003;ExAC_FIN=0.0739;ExAC_NFE=0.1035;ExAC_OTH=0.0766;ExAC_SAS=0.0333;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 172558524 rs41264546 A G 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.141;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.51;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUCO;Func=exonic;Gene=NM_001282751,NM_014283,NM_016227;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SUCO:NM_001282751:exon16:c.A594G:p.P198P,SUCO:NM_016227:exon17:c.A2736G:p.P912P,SUCO:NM_014283:exon18:c.A2283G:p.P761P;Gencode=Name\x3eENST00000616058.4,ENST00000608151.5,ENST00000610051.5,ENST00000263688.3,ENST00000367723.8;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0663;1000g2015aug_all=0.034345;esp6500siv2_all=0.0720;ExAC_ALL=0.0674;ExAC_AFR=0.0177;ExAC_AMR=0.0512;ExAC_EAS=0.0002;ExAC_FIN=0.0816;ExAC_NFE=0.0937;ExAC_OTH=0.0774;ExAC_SAS=0.0318;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:360,0,401 1 172604210 rs763109 G A 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.842;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016227,NM_001302746;GeneDetail=dist\x3e23237\x3bdist\x3e23938;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2443\x3bName\x3e"304286:AluSx1(SINE)";avsnp150=rs763109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.2118;1000g2015aug_all=0.238618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 172634734 rs2639653 T C 2132.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFASLG;Func=intronic;Gene=NM_000639,NM_001302746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340030.4,ENST00000367721.2;cytoBand=1q24.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2639653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9831;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.995807;esp6500siv2_all=0.9869;ExAC_ALL=0.9905;ExAC_AFR=0.9980;ExAC_AMR=0.9965;ExAC_EAS=1;ExAC_FIN=0.9929;ExAC_NFE=0.9849;ExAC_OTH=0.9922;ExAC_SAS=0.9981;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2161,201,0 1 173196937 rs4916211 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003326,NR_037845;GeneDetail=dist\x3e20485\x3bdist\x3e7262;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16497\x3bName\x3e"305303:L1PA5(LINE)";avsnp150=rs4916211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9821;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 173318409 rs7546179 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100506023;Func=ncRNA_intronic;Gene=NR_037845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2463\x3bName\x3e"305507:AluY(SINE)";avsnp150=rs7546179;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.34;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.2925;1000g2015aug_all=0.305312;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 173332629 rs1857066 A C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100506023;Func=ncRNA_intronic;Gene=NR_037845;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1857066;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.7594;1000g2015aug_all=0.833067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 173457017 rs4611 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRDX6;Func=UTR3;Gene=NM_004905;GeneDetail=NM_004905:c.*15C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340385.5;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4611;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5853;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.2565;1000g2015aug_all=0.416134;esp6500siv2_all=0.3698;ExAC_ALL=0.2930;ExAC_AFR=0.6346;ExAC_AMR=0.1804;ExAC_EAS=0.6219;ExAC_FIN=0.2066;ExAC_NFE=0.2457;ExAC_OTH=0.2594;ExAC_SAS=0.2135;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 173472551 rs10912625 T C 183.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10912625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.3213;1000g2015aug_all=0.304513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:212,21,0 1 173474262 rs6687872 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.3213;1000g2015aug_all=0.304313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 173474429 rs12026637 T C 2115.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.971;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=exonic;Gene=NM_178527;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC9C2:NM_178527:exon26:c.A3267G:p.Q1089Q;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12026637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.3213;1000g2015aug_all=0.304313;esp6500siv2_all=0.1533;ExAC_ALL=0.2702;ExAC_AFR=0.0468;ExAC_AMR=0.4291;ExAC_EAS=0.6488;ExAC_FIN=0.2154;ExAC_NFE=0.2134;ExAC_OTH=0.2434;ExAC_SAS=0.3548;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2144,212,0 1 173478648 rs10737303 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737303;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.3689;1000g2015aug_all=0.449481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 173491947 rs12075314 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1412\x3bName\x3e"305822:L2a(LINE)";avsnp150=rs12075314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.711;1000g2015aug_amr=0.5663;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 173492004 rs12406500 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1412\x3bName\x3e"305822:L2a(LINE)";avsnp150=rs12406500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.3213;1000g2015aug_all=0.306709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 173492219 rs10753082 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1412\x3bName\x3e"305822:L2a(LINE)";avsnp150=rs10753082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.5663;1000g2015aug_all=0.630791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 173492229 rs9425728 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2488\x3bName\x3e"305823:AluSz(SINE)";avsnp150=rs9425728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.7669;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.83;1000g2015aug_all=0.868411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 173492649 rs4916367 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1412\x3bName\x3e"305824:L2a(LINE)";avsnp150=rs4916367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.5663;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 173492653 rs4916368 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4916368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.3213;1000g2015aug_all=0.306709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 173493312 rs10912633 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"305825:L1MC3(LINE)";avsnp150=rs10912633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.5187;1000g2015aug_all=0.491014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 173493348 rs16846113 T C 95.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16846113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.3213;1000g2015aug_all=0.303315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:123,9,0 1 173509586 rs7520814 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.5802;1000g2015aug_amr=0.3617;1000g2015aug_all=0.459065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 173516871 rs16846206 G C 1341.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=exonic;Gene=NM_178527;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SLC9C2:NM_178527:exon13:c.C1514G:p.A505G;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16846206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.3256;1000g2015aug_all=0.334665;esp6500siv2_all=0.1811;ExAC_ALL=0.2771;ExAC_AFR=0.1305;ExAC_AMR=0.4342;ExAC_EAS=0.6492;ExAC_FIN=0.2142;ExAC_NFE=0.2121;ExAC_OTH=0.25;ExAC_SAS=0.3542;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.167;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_pred=B;LRT_score=0.422;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=1.8;FATHMM_pred=T;phyloP100way_vertebrate=0.327;phyloP20way_mammalian=0.125;SiPhy_29way_logOdds=4.598;gerp++gt2=.;CADD=1.043;CADD_Phred=10.90;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1370,129,0 1 173516903 rs10494490 A G 1079.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=exonic;Gene=NM_178527;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC9C2:NM_178527:exon13:c.T1482C:p.N494N;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.671;1000g2015aug_amr=0.3732;1000g2015aug_all=0.485224;esp6500siv2_all=0.3386;ExAC_ALL=0.3220;ExAC_AFR=0.6101;ExAC_AMR=0.4572;ExAC_EAS=0.6492;ExAC_FIN=0.2141;ExAC_NFE=0.2146;ExAC_OTH=0.2709;ExAC_SAS=0.3551;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1108,104,0 1 173524074 rs115036241 C G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.068;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115036241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 173524107 rs10912643 A G 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10912643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.3732;1000g2015aug_all=0.488019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 173542017 rs898657 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3,ENST00000431459.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"305909:MER5A(DNA)";avsnp150=rs898657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6399;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.3646;1000g2015aug_all=0.324281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 173552529 rs7541082 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367714.3,ENST00000431459.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.4182;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.3631;1000g2015aug_all=0.332668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 173552783 rs12032386 G A 310.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431459.1,ENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12032386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.7398;1000g2015aug_amr=0.415;1000g2015aug_all=0.525958;esp6500siv2_all=0.3864;ExAC_ALL=0.3569;ExAC_AFR=0.6727;ExAC_AMR=0.4847;ExAC_EAS=0.6831;ExAC_FIN=0.2348;ExAC_NFE=0.2549;ExAC_OTH=0.3192;ExAC_SAS=0.3665;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:339,27,0 1 173556699 rs301698 G T 300.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431459.1,ENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs301698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9813;1000g2015aug_all=0.985423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:329,24,0 1 173569176 rs17350830 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC9C2;Func=intronic;Gene=NM_178527;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431459.1,ENST00000367714.3;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17350830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.16;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0951;1000g2015aug_all=0.0541134;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 173606207 rs12067170 T A 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.858;DP=25;ExcessHet=3.0103;FS=3.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.083;SOR=2.007;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANKRD45,LOC730159;Func=UTR3;Gene=NM_001195190;GeneDetail=NM_001195190:c.*32T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333279.2,ENST00000417563.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12067170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.826;1000g2015aug_amr=0.3112;1000g2015aug_all=0.474441;esp6500siv2_all=.;ExAC_ALL=0.2847;ExAC_AFR=0.6931;ExAC_AMR=0.3043;ExAC_EAS=0.6591;ExAC_FIN=.;ExAC_NFE=0.3872;ExAC_OTH=0.3475;ExAC_SAS=0.2282;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,10:24:99:345,0,444 1 173615965 rs7539322 C T 431.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.136;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.011;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANKRD45;Func=intronic;Gene=NM_198493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333279.2;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7539322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0785;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0432;1000g2015aug_all=0.113818;esp6500siv2_all=0.0703;ExAC_ALL=0.0971;ExAC_AFR=0.0392;ExAC_AMR=0.0366;ExAC_EAS=0.3434;ExAC_FIN=0.0809;ExAC_NFE=0.0863;ExAC_OTH=0.1107;ExAC_SAS=0.0962;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,18:29:99:460,0,253 1 173638315 . C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-0.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANKRD45;Func=intronic;Gene=NM_198493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000333279.2;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e534\x3bName\x3e"306093:L2c(LINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 173639397 rs115171888 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_198493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115171888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 173835347 rs114972656 G A 116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.652;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNORA103,GAS5;Func=ncRNA_exonic;Gene=NR_132783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450589.5,ENST00000451607.5,ENST00000430245.5,ENST00000432536.5,ENST00000425771.5,ENST00000452197.5,ENST00000454068.5,ENST00000449289.5,ENST00000448718.5;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114972656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:145,0,104 1 173839907 rs36119794 C T 2423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.002;DP=172;ExcessHet=3.0103;FS=10.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.352;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB37;Func=exonic;Gene=NM_001122770,NM_001346115,NM_032522;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZBTB37:NM_001122770:exon3:c.C544T:p.L182L,ZBTB37:NM_001346115:exon3:c.C544T:p.L182L,ZBTB37:NM_032522:exon3:c.C544T:p.L182L;Gencode=Name\x3eENST00000432989.2,ENST00000367704.5,ENST00000427304.5,ENST00000367702.1,ENST00000367701.9;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36119794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0418;1000g2015aug_all=0.028754;esp6500siv2_all=0.0594;ExAC_ALL=0.0579;ExAC_AFR=0.0133;ExAC_AMR=0.0291;ExAC_EAS=0.0001;ExAC_FIN=0.0767;ExAC_NFE=0.0813;ExAC_OTH=0.0618;ExAC_SAS=0.0342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,94:171:99:2452,0,2246 1 173941617 rs11579488 T C 736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.915;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.213;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRC3H1;Func=intronic;Gene=NM_001300850,NM_001300851,NM_001300852,NM_172071;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367694.2,ENST00000367696.6,ENST00000258349.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11579488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0706;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0207668;esp6500siv2_all=0.0524;ExAC_ALL=0.0484;ExAC_AFR=0.0120;ExAC_AMR=0.0234;ExAC_EAS=0;ExAC_FIN=0.0813;ExAC_NFE=0.0720;ExAC_OTH=0.0510;ExAC_SAS=0.0057;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,28:56:99:765,0,705 1 173961839 rs12754931 G C 280.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.706;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=-0.263;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRC3H1;Func=intronic;Gene=NM_001300850,NM_001300851,NM_001300852,NM_172071;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367694.2,ENST00000258349.8,ENST00000367696.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"306763:(GA)n(Simple_repeat)";avsnp150=rs12754931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,15:37:99:309,0,667 1 174417231 rs7516240 G A 2886.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=1.237;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGAP1L,GPR52;Func=UTR5;Gene=NM_005684;GeneDetail=NM_005684:c.-19G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357444.10,ENST00000251507.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9769;1000g2015aug_all=0.985224;esp6500siv2_all=0.9686;ExAC_ALL=0.9677;ExAC_AFR=0.9940;ExAC_AMR=0.9796;ExAC_EAS=0.9998;ExAC_FIN=0.9555;ExAC_NFE=0.9541;ExAC_OTH=0.9635;ExAC_SAS=0.9887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:2915,293,0 1 174927388 rs10798329 G C 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRABGAP1L;Func=intronic;Gene=NM_001243765,NM_001330989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367687.5,ENST00000489615.5,ENST00000347255.6,ENST00000392064.6,ENST00000325589.9;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9769;1000g2015aug_all=0.986821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 174969271 rs1046439 C T 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.766;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-1.306;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACYBP;Func=UTR5;Gene=NM_014412;GeneDetail=NM_014412:c.-46C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613570.4,ENST00000367679.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.6182;1000g2015aug_all=0.739617;esp6500siv2_all=0.7717;ExAC_ALL=0.6842;ExAC_AFR=0.9305;ExAC_AMR=0.5144;ExAC_EAS=0.6325;ExAC_FIN=0.6912;ExAC_NFE=0.6870;ExAC_OTH=0.6904;ExAC_SAS=0.6554;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,11:15:99:312,0,122 1 175014250 rs7355181 A G 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.61;DP=39;ExcessHet=3.0103;FS=11.309;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.832;SOR=0.073;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022100,NM_022093;GeneDetail=dist\x3e21659\x3bdist\x3e22744;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=Score\x3e0.93474\x3bName\x3echr18:60009690;Repeat=.;avsnp150=rs7355181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.5089;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.5029;1000g2015aug_all=0.588059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:589,0,566 1 175014557 rs6425313 T C 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.49;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022100,NM_022093;GeneDetail=dist\x3e21966\x3bdist\x3e22437;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=Score\x3e0.93474\x3bName\x3echr18:60009690;Repeat=.;avsnp150=rs6425313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9683;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9654;1000g2015aug_all=0.969449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 175014607 rs11808101 T C 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.956;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022100,NM_022093;GeneDetail=dist\x3e22016\x3bdist\x3e22387;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=Score\x3e0.93474\x3bName\x3echr18:60009690;Repeat=.;avsnp150=rs11808101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6468;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.4899;1000g2015aug_all=0.584265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,151 1 175046488 rs2072033 G A 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.331;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.909;SOR=0.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.508;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.5173;1000g2015aug_all=0.571286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,11:31:99:298,0,640 1 175046789 rs2072032 A G 3335.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.038;DP=275;ExcessHet=3.0103;FS=2.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.609;SOR=0.57;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNN:NM_022093:exon2:c.A235G:p.R79G;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.508;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.5173;1000g2015aug_all=0.571486;esp6500siv2_all=0.5944;ExAC_ALL=0.5148;ExAC_AFR=0.7852;ExAC_AMR=0.4628;ExAC_EAS=0.4123;ExAC_FIN=0.4986;ExAC_NFE=0.4994;ExAC_OTH=0.5123;ExAC_SAS=0.5036;SIFT_score=0.662;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.049;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.125;MutationAssessor_pred=N;FATHMM_score=1.78;FATHMM_pred=T;phyloP100way_vertebrate=0.821;phyloP20way_mammalian=-1.579;SiPhy_29way_logOdds=4.944;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:144,130:274:99:3364,0,3630 1 175052828 rs2072031 G A 1706.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=108;ExcessHet=3.0103;FS=4.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-1.272;SOR=1.209;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.3559;1000g2015aug_all=0.295128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,59:108:99:1735,0,1356 1 175053101 rs2072030 A T 1978.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.069;DP=136;ExcessHet=3.0103;FS=4.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.949;SOR=1.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.4806;1000g2015aug_eur=0.508;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.5072;1000g2015aug_all=0.544329;esp6500siv2_all=0.5653;ExAC_ALL=0.5086;ExAC_AFR=0.6934;ExAC_AMR=0.4587;ExAC_EAS=0.4145;ExAC_FIN=0.4985;ExAC_NFE=0.5004;ExAC_OTH=0.5157;ExAC_SAS=0.5133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,69:136:99:2007,0,1839 1 175054418 rs1573759 A G 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.868;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.508;1000g2015aug_afr=0.798;1000g2015aug_amr=0.5115;1000g2015aug_all=0.55651;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:202,0,370 1 175054548 rs1573758 C T 616.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.163;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.034;SOR=0.588;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNN:NM_022093:exon6:c.C1242T:p.H414H;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.4806;1000g2015aug_eur=0.508;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.5072;1000g2015aug_all=0.541134;esp6500siv2_all=0.5627;ExAC_ALL=0.5108;ExAC_AFR=0.6889;ExAC_AMR=0.4606;ExAC_EAS=0.4158;ExAC_FIN=0.5114;ExAC_NFE=0.5034;ExAC_OTH=0.5203;ExAC_SAS=0.5119;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,25:65:99:645,0,1135 1 175054626 rs6664276 G T 898.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.675;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.696;SOR=0.62;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNN:NM_022093:exon6:c.G1320T:p.R440S;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00858626;esp6500siv2_all=0.0043;ExAC_ALL=0.0097;ExAC_AFR=0.0003;ExAC_AMR=0.0058;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0073;ExAC_OTH=0.0228;ExAC_SAS=0.0346;SIFT_score=0.956;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=0.602;MutationTaster_pred=D;MutationAssessor_score=1.435;MutationAssessor_pred=L;FATHMM_score=1.63;FATHMM_pred=T;phyloP100way_vertebrate=0.435;phyloP20way_mammalian=-0.241;SiPhy_29way_logOdds=7.738;gerp++gt2=2.91;CADD=1.281;CADD_Phred=12.17;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,36:90:99:927,0,1586 1 175068011 rs744008 T A 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.849;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.433;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs744008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.4827;1000g2015aug_all=0.528954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:164,0,339 1 175080225 rs7538714 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8,ENST00000621086.1,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2371\x3bName\x3e"308927:AluSq2(SINE)";avsnp150=rs7538714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.3818;1000g2015aug_all=0.472843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 175086461 rs6690229 A G 1673.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.08;SOR=3.564;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8,ENST00000621086.1,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5805;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.5533;1000g2015aug_all=0.647963;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1702,138,0 1 175087677 rs6656284 G A 3708.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.217;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6656284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.3865;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.3818;1000g2015aug_all=0.475839;esp6500siv2_all=0.5693;ExAC_ALL=0.4225;ExAC_AFR=0.8362;ExAC_AMR=0.3115;ExAC_EAS=0.0778;ExAC_FIN=0.3771;ExAC_NFE=0.4378;ExAC_OTH=0.4038;ExAC_SAS=0.3974;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3737,359,0 1 175087729 rs6696455 T C 4251.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNN:NM_022093:exon11:c.T2419C:p.W807R;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.91;1000g2015aug_amr=0.3818;1000g2015aug_all=0.473243;esp6500siv2_all=0.5707;ExAC_ALL=0.4237;ExAC_AFR=0.8361;ExAC_AMR=0.3114;ExAC_EAS=0.0696;ExAC_FIN=0.3768;ExAC_NFE=0.4368;ExAC_OTH=0.4064;ExAC_SAS=0.3951;SIFT_score=0.401;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.972;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.4;MutationAssessor_pred=N;FATHMM_score=0.51;FATHMM_pred=T;phyloP100way_vertebrate=-0.704;phyloP20way_mammalian=-0.992;SiPhy_29way_logOdds=4.715;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4280,390,0 1 175088187 rs6656788 G A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4245\x3bName\x3e"308940:MER41A(LTR)";avsnp150=rs6656788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0149;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.3616;1000g2015aug_amr=0.2032;1000g2015aug_all=0.20627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 175092674 rs2285215 C T 1718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.597;DP=114;ExcessHet=3.0103;FS=4.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.366;SOR=1.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNN:NM_022093:exon12:c.C2789T:p.P930L;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2285215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4921;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.6203;1000g2015aug_amr=0.6671;1000g2015aug_all=0.598243;esp6500siv2_all=0.6230;ExAC_ALL=0.6033;ExAC_AFR=0.6092;ExAC_AMR=0.6636;ExAC_EAS=0.5052;ExAC_FIN=0.6071;ExAC_NFE=0.6191;ExAC_OTH=0.5749;ExAC_SAS=0.5448;SIFT_score=0.37;SIFT_pred=T;Polyphen2_HDIV_score=0.973;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.703;Polyphen2_HVAR_pred=P;LRT_score=0.011;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=0.46;FATHMM_pred=T;phyloP100way_vertebrate=0.496;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=5.896;gerp++gt2=3.1;CADD=1.178;CADD_Phred=11.63;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,59:114:99:1747,0,1675 1 175092707 rs10798333 C T 1869.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.652;DP=133;ExcessHet=3.0103;FS=10.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.693;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNN:NM_022093:exon12:c.C2822T:p.T941M;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.2824;1000g2015aug_all=0.300319;esp6500siv2_all=0.4128;ExAC_ALL=0.3428;ExAC_AFR=0.4109;ExAC_AMR=0.2026;ExAC_EAS=0.0872;ExAC_FIN=0.4485;ExAC_NFE=0.4094;ExAC_OTH=0.3491;ExAC_SAS=0.2200;SIFT_score=0.034;SIFT_pred=D;Polyphen2_HDIV_score=0.538;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.292;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.994;MutationTaster_pred=P;MutationAssessor_score=2.545;MutationAssessor_pred=M;FATHMM_score=0.24;FATHMM_pred=T;phyloP100way_vertebrate=0.126;phyloP20way_mammalian=-0.382;SiPhy_29way_logOdds=6.990;gerp++gt2=3.11;CADD=3.846;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,62:133:99:1898,0,2090 1 175092840 rs2072041 T C 2356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.85;DP=167;ExcessHet=3.0103;FS=1.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.245;SOR=0.841;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.6203;1000g2015aug_amr=0.6671;1000g2015aug_all=0.598442;esp6500siv2_all=0.6225;ExAC_ALL=0.6040;ExAC_AFR=0.6100;ExAC_AMR=0.6663;ExAC_EAS=0.5077;ExAC_FIN=0.6079;ExAC_NFE=0.6195;ExAC_OTH=0.5751;ExAC_SAS=0.5449;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:82,84:166:99:2385,0,2149 1 175095936 rs7515770 C T 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.011;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.324;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e250\x3bName\x3e"308962:MamGypLTR1c(LTR)";avsnp150=rs7515770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.357;1000g2015aug_amr=0.2781;1000g2015aug_all=0.277955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:322,0,398 1 175097331 rs10912891 G A 1795.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.34;DP=122;ExcessHet=3.0103;FS=11.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-1.504;SOR=1.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10912891;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3581;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.428;1000g2015aug_all=0.407548;esp6500siv2_all=0.5245;ExAC_ALL=0.5397;ExAC_AFR=0.3393;ExAC_AMR=0.3838;ExAC_EAS=0.3149;ExAC_FIN=0.7269;ExAC_NFE=0.6299;ExAC_OTH=0.5854;ExAC_SAS=0.4118;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,63:122:99:1824,0,1659 1 175097349 rs7547567 C T 1607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.007;DP=118;ExcessHet=3.0103;FS=7.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.286;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8,ENST00000621086.1,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.668;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.7435;1000g2015aug_all=0.666733;esp6500siv2_all=0.6947;ExAC_ALL=0.6505;ExAC_AFR=0.7888;ExAC_AMR=0.7340;ExAC_EAS=0.5060;ExAC_FIN=0.6525;ExAC_NFE=0.6445;ExAC_OTH=0.6155;ExAC_SAS=0.5718;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,56:118:99:1636,0,1656 1 175097991 rs10798335 C T 370.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.808;DP=33;ExcessHet=3.0103;FS=9.678;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.327;SOR=2.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621086.1,ENST00000239462.8,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3581;1000g2015aug_sas=0.362;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.4496;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,13:33:99:399,0,536 1 175104719 rs4651322 T C 64.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=11;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=0.98;SOR=0.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4651322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.6686;1000g2015aug_all=0.597045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:93:93,0,269 1 175104796 rs4651324 G T 440.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.057;DP=35;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.849;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e222\x3bName\x3e"308977:L2c(LINE)";avsnp150=rs4651324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.7556;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.9049;1000g2015aug_all=0.840256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:469,0,511 1 175105587 rs2269656 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8,ENST00000621086.1,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2269656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.7658;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.9265;1000g2015aug_all=0.843051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 175105880 rs2072037 G A 438.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.721;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.076;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.674;1000g2015aug_amr=0.7954;1000g2015aug_all=0.670128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,17:37:99:467,0,543 1 175105942 rs4650703 G A 1570.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000239462.8,ENST00000621086.1,ENST00000622870.4;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4650703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9827;1000g2015aug_all=0.987819;esp6500siv2_all=0.9734;ExAC_ALL=0.9758;ExAC_AFR=0.9924;ExAC_AMR=0.9836;ExAC_EAS=1;ExAC_FIN=0.9898;ExAC_NFE=0.9632;ExAC_OTH=0.9766;ExAC_SAS=0.9923;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1599,132,0 1 175111918 rs2861156 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=intronic;Gene=NM_022093;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000621086.1,ENST00000239462.8;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2449\x3bName\x3e"308987:AluSx4(SINE)";avsnp150=rs2861156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9741;1000g2015aug_all=0.986022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 175113578 rs10912897 T C 3793.77 PASS AC=2;AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.53;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=exonic;Gene=NM_022093;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNN:NM_022093:exon18:c.T3651C:p.N1217N;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10912897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9602;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9741;1000g2015aug_all=0.986022;esp6500siv2_all=0.9713;ExAC_ALL=0.9749;ExAC_AFR=0.9923;ExAC_AMR=0.9830;ExAC_EAS=0.9941;ExAC_FIN=0.9828;ExAC_NFE=0.9629;ExAC_OTH=0.9736;ExAC_SAS=0.9939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,117:117:99:3822,351,0 1 175116252 rs4651335 C G 986.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.227;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.102;SOR=0.674;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNN;Func=UTR3;Gene=NM_022093;GeneDetail=NM_022093:c.*45C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622870.4,ENST00000239462.8,ENST00000621086.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4651335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9049;1000g2015aug_all=0.851038;esp6500siv2_all=0.8879;ExAC_ALL=0.8533;ExAC_AFR=0.9731;ExAC_AMR=0.9257;ExAC_EAS=0.7186;ExAC_FIN=0.9196;ExAC_NFE=0.8512;ExAC_OTH=0.8355;ExAC_SAS=0.7518;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,36:64:99:1015,0,817 1 175130204 rs1057239 G A 1151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.381;DP=77;ExcessHet=3.0103;FS=2.115;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.301;SOR=1.094;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0040;Func=UTR5;Gene=NM_001162893,NM_001162894,NM_001162895,NM_001319230,NM_001319231,NM_014656;GeneDetail=NM_001162893:c.-55C>T\x3bNM_001162894:c.-55C>T\x3bNM_001162895:c.-55C>T\x3bNM_001319230:c.-55C>T\x3bNM_001319231:c.-55C>T\x3bNM_014656:c.-55C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545251.6,ENST00000444639.5,ENST00000423313.5,ENST00000619513.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1057239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.317;1000g2015aug_all=0.314696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,40:77:99:1180,0,1108 1 175130276 rs1135289 G A 1437.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.23;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA0040;Func=UTR5;Gene=NM_001162893,NM_001162894,NM_001162895,NM_001319230,NM_001319231,NM_014656;GeneDetail=NM_001162893:c.-127C>T\x3bNM_001162894:c.-127C>T\x3bNM_001162895:c.-127C>T\x3bNM_001319230:c.-127C>T\x3bNM_001319231:c.-127C>T\x3bNM_014656:c.-127C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444639.5,ENST00000545251.6,ENST00000423313.5,ENST00000619513.1;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.9612;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9726;1000g2015aug_all=0.984225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1466,126,0 1 175293424 rs2213635 T C 718.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000569593.1,ENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2213635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.7637;1000g2015aug_all=0.766174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:747,57,0 1 175299301 rs2027867 T C 2881.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=1.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=exonic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNR:NM_001328635:exon21:c.A2703G:p.Q901Q,TNR:NM_003285:exon21:c.A3702G:p.Q1234Q;Gencode=Name\x3eENST00000263525.6,ENST00000569593.1,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2027867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.7637;1000g2015aug_all=0.765974;esp6500siv2_all=0.7510;ExAC_ALL=0.7452;ExAC_AFR=0.8105;ExAC_AMR=0.8452;ExAC_EAS=0.8202;ExAC_FIN=0.7270;ExAC_NFE=0.7237;ExAC_OTH=0.7246;ExAC_SAS=0.6900;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2910,258,0 1 175306536 rs2269587 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2269587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.5677;1000g2015aug_all=0.453275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 175323446 rs2301432 A G 1059.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2301432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.7867;1000g2015aug_all=0.748203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1088,84,0 1 175324521 rs55973835 A T 1051.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55973835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.745;1000g2015aug_all=0.678315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:1080,72,0 1 175324651 rs2228359 A G 1525.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=exonic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNR:NM_001328635:exon17:c.T2238C:p.D746D,TNR:NM_003285:exon17:c.T3237C:p.D1079D;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.682;1000g2015aug_eur=0.6819;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.7104;1000g2015aug_all=0.665735;esp6500siv2_all=0.6355;ExAC_ALL=0.6892;ExAC_AFR=0.5439;ExAC_AMR=0.7612;ExAC_EAS=0.8223;ExAC_FIN=0.7132;ExAC_NFE=0.6822;ExAC_OTH=0.6817;ExAC_SAS=0.6794;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1554,141,0 1 175324711 rs61731115 G A 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.314;DP=42;ExcessHet=3.0103;FS=1.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.196;SOR=1.11;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=exonic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNR:NM_001328635:exon17:c.C2178T:p.I726I,TNR:NM_003285:exon17:c.C3177T:p.I1059I;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61731115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.0692;1000g2015aug_all=0.1252;esp6500siv2_all=0.1063;ExAC_ALL=0.1047;ExAC_AFR=0.1417;ExAC_AMR=0.0358;ExAC_EAS=0.0864;ExAC_FIN=0.1207;ExAC_NFE=0.1042;ExAC_OTH=0.0980;ExAC_SAS=0.1349;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:496,0,512 1 175329083 rs2239820 A C 129.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2239820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3449;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.2824;1000g2015aug_all=0.313099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:157,12,0 1 175331617 rs79247495 C A 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.24;DP=20;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.685;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79247495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0952;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.062;1000g2015aug_all=0.090655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,11:20:99:355,0,312 1 175332181 rs12406012 G C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12406012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1873;1000g2015aug_all=0.129593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 175335234 rs1385541 C T 3288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.999;DP=257;ExcessHet=3.0103;FS=2.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.547;SOR=0.89;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=exonic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNR:NM_001328635:exon11:c.G1095A:p.S365S,TNR:NM_003285:exon11:c.G2094A:p.S698S;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1385541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.1974;1000g2015aug_all=0.166134;esp6500siv2_all=0.2071;ExAC_ALL=0.2131;ExAC_AFR=0.1396;ExAC_AMR=0.1840;ExAC_EAS=0.0946;ExAC_FIN=0.2677;ExAC_NFE=0.2444;ExAC_OTH=0.2556;ExAC_SAS=0.1906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:129,126:255:99:3317,0,3647 1 175335412 rs1385540 A C 1413.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1385540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.729;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.8084;1000g2015aug_all=0.79393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1442,108,0 1 175335551 rs10489317 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.1974;1000g2015aug_all=0.166733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 175336292 rs1872440 C A 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.593;DP=27;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.17;SOR=0.045;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1872440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1888;1000g2015aug_all=0.126198;esp6500siv2_all=0.1826;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:401,0,462 1 175336305 rs1872439 G C 365.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.635;DP=27;ExcessHet=3.0103;FS=4.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.631;SOR=0.144;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1872439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1888;1000g2015aug_all=0.126597;esp6500siv2_all=0.1772;ExAC_ALL=0.2031;ExAC_AFR=0.0422;ExAC_AMR=0.1827;ExAC_EAS=0.0908;ExAC_FIN=0.2688;ExAC_NFE=0.2441;ExAC_OTH=0.2517;ExAC_SAS=0.1828;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:394,0,457 1 175336530 rs6697701 T C 2168.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.5794;1000g2015aug_amr=0.7219;1000g2015aug_all=0.685703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2197,219,0 1 175336619 rs6697801 T C 835.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697801;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.719;1000g2015aug_all=0.654153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:864,63,0 1 175347969 rs859422 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e439\x3bName\x3e"309375:L2b(LINE)";avsnp150=rs859422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.7954;1000g2015aug_all=0.803115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 175348063 rs111338479 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2480\x3bName\x3e"309376:AluSp(SINE)";avsnp150=rs111338479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.072;1000g2015aug_all=0.0894569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 175355391 rs859437 A G 1121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.939;DP=86;ExcessHet=3.0103;FS=0.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.881;SOR=0.805;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=exonic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNR:NM_001328635:exon8:c.T555C:p.T185T,TNR:NM_003285:exon8:c.T1554C:p.T518T;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs859437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8919;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.8631;1000g2015aug_all=0.832867;esp6500siv2_all=0.7984;ExAC_ALL=0.8141;ExAC_AFR=0.8154;ExAC_AMR=0.8881;ExAC_EAS=0.9041;ExAC_FIN=0.7919;ExAC_NFE=0.7878;ExAC_OTH=0.7696;ExAC_SAS=0.8324;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,39:86:99:1150,0,1349 1 175376029 rs112015044 G A 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.863;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.524;SOR=0.487;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112015044;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0685;1000g2015aug_sas=0.2045;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.0393;1000g2015aug_amr=0.072;1000g2015aug_all=0.0970447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,18:41:99:626,0,905 1 175504700 rs7514033 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1695\x3bName\x3e"309631:AluY(SINE)";avsnp150=rs7514033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.5613;1000g2015aug_amr=0.6888;1000g2015aug_all=0.64397;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 175586202 rs10157737 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367674.6,ENST00000263525.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10157737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.3689;1000g2015aug_all=0.499601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 175586204 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNR;Func=intronic;Gene=NM_001328635,NM_003285;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263525.6,ENST00000367674.6;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 175742436 rs72727632 G T 48.81 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003285,NR_125964;GeneDetail=dist\x3e29684\x3bdist\x3e104043;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e143\x3bName\x3e"310052:GA-rich(Low_complexity)";avsnp150=rs72727632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.4078;1000g2015aug_all=0.509984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:20:77,0,20 1 175911397 rs10436864 T C 468.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125964,NM_022457;GeneDetail=dist\x3e61797\x3bdist\x3e2565;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e798\x3bName\x3e"310402:FLAM_C(SINE)";avsnp150=rs10436864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.7277;1000g2015aug_all=0.716653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:497,36,0 1 175914531 rs7522442 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.9366;1000g2015aug_all=0.808706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 175916267 rs6674353 T C 1968.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6674353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.995;1000g2015aug_afr=0.7421;1000g2015aug_amr=0.9784;1000g2015aug_all=0.920128;esp6500siv2_all=0.9262;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1997,183,0 1 175937315 rs7545043 T G 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.7277;1000g2015aug_all=0.714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 175937540 rs4534339 C T 2844.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSCARNA3,RFWD2;Func=ncRNA_exonic;Gene=NR_002998;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000517097.1,ENST00000308769.12,ENST00000367669.7,ENST00000628105.1;cytoBand=1q25.1;wgRna=Name\x3eHBI-100;genomicSuperDups=.;Repeat=.;avsnp150=rs4534339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.987;1000g2015aug_all=0.9375;esp6500siv2_all=0.9327;ExAC_ALL=0.9733;ExAC_AFR=0.8124;ExAC_AMR=0.9902;ExAC_EAS=1;ExAC_FIN=0.9960;ExAC_NFE=0.9878;ExAC_OTH=0.9798;ExAC_SAS=0.9644;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:2873,281,0 1 175937897 rs4347169 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4347169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.995;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.9769;1000g2015aug_all=0.908946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 175951347 rs10798430 T A 879.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4708\x3bName\x3e"310467:L1MA7(LINE)";avsnp150=rs10798430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.987;1000g2015aug_all=0.937899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:908,75,0 1 175955734 rs9783047 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9783047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.7277;1000g2015aug_all=0.716653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 176012495 rs72713273 G A 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.988;DP=23;ExcessHet=3.0103;FS=2.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.232;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72713273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0115815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:253,0,489 1 176012807 rs4233165 G A 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4233165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.987;1000g2015aug_all=0.937899;esp6500siv2_all=0.9313;ExAC_ALL=0.9715;ExAC_AFR=0.8134;ExAC_AMR=0.9902;ExAC_EAS=1;ExAC_FIN=0.9961;ExAC_NFE=0.9879;ExAC_OTH=0.9811;ExAC_SAS=0.9663;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 176050138 rs2502828 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e467\x3bName\x3e"310644:MIR(SINE)";avsnp150=rs2502828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.987;1000g2015aug_all=0.938099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 176063168 rs11487336 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2035\x3bName\x3e"310666:AluSc(SINE)";avsnp150=rs11487336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 176063170 rs11484573 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2035\x3bName\x3e"310666:AluSc(SINE)";avsnp150=rs11484573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 176102974 rs2481662 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.842;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2481662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.329;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.1902;1000g2015aug_all=0.284545;esp6500siv2_all=.;ExAC_ALL=0.3355;ExAC_AFR=0.1538;ExAC_AMR=0.3152;ExAC_EAS=0.5530;ExAC_FIN=.;ExAC_NFE=0.3223;ExAC_OTH=0.3475;ExAC_SAS=0.3409;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 176103954 rs2502845 C T 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.033;DP=25;ExcessHet=3.0103;FS=1.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.777;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2502845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.328;1000g2015aug_afr=0.0998;1000g2015aug_amr=0.1902;1000g2015aug_all=0.284145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:274,0,448 1 176105837 rs1020311308 C G 699.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.246;DP=37;ExcessHet=3.0103;FS=5.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.211;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1020311308;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,25:37:99:728,0,229 1 176118219 rs3748618 G A 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.226;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.327;SOR=1.555;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.3876;1000g2015aug_all=0.27496;esp6500siv2_all=0.2660;ExAC_ALL=0.3504;ExAC_AFR=0.0800;ExAC_AMR=0.4197;ExAC_EAS=0.3366;ExAC_FIN=0.3865;ExAC_NFE=0.3818;ExAC_OTH=0.3787;ExAC_SAS=0.3237;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,4:15:88:88,0,312 1 176129276 rs520661 G A 737.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.201;DP=73;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-1.284;SOR=0.93;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs520661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.329;1000g2015aug_afr=0.0719;1000g2015aug_amr=0.1859;1000g2015aug_all=0.276158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,31:73:99:766,0,941 1 176132292 rs704828 C T 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704828;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9611;1000g2015aug_eur=0.995;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.987;1000g2015aug_all=0.937899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 176137555 rs659279 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.329;1000g2015aug_afr=0.0552;1000g2015aug_amr=0.1859;1000g2015aug_all=0.272364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 176145277 rs471534 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367669.7,ENST00000308769.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs471534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9157;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7262;1000g2015aug_all=0.715655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 176153658 rs791744 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRFWD2;Func=intronic;Gene=NM_001001740,NM_001286644,NM_022457;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308769.12,ENST00000367669.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs791744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.7262;1000g2015aug_all=0.714856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 176446562 rs1883578 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAPPA2;Func=intronic;Gene=NM_020318,NM_021936;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367662.4,ENST00000367661.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e424\x3bName\x3e"311350:MER112(DNA)";avsnp150=rs1883578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.938;1000g2015aug_all=0.974241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 176760806 rs6425396 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.56;MQRankSum=-0.674;QD=10.69;ReadPosRankSum=-0.967;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAPPA2;Func=intronic;Gene=NM_020318;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367662.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2139\x3bName\x3e"311917:AluSx1(SINE)";avsnp150=rs6425396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.2795;1000g2015aug_all=0.375599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 176811754 rs12137448 G C 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.697;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePAPPA2;Func=UTR3;Gene=NM_020318;GeneDetail=NM_020318:c.*164G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367662.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12137448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0972444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,143 1 176833497 rs12118933 G C 1892.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.243;DP=145;ExcessHet=3.0103;FS=4.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.309;SOR=0.427;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_004319;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASTN1:NM_004319:exon23:c.C3808G:p.R1270G;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12118933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0419329;esp6500siv2_all=0.0639;ExAC_ALL=0.0616;ExAC_AFR=0.0170;ExAC_AMR=0.0336;ExAC_EAS=0.0374;ExAC_FIN=0.0783;ExAC_NFE=0.0841;ExAC_OTH=0.0727;ExAC_SAS=0.0237;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=0.369;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.182;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=2.84;FATHMM_pred=T;phyloP100way_vertebrate=7.259;phyloP20way_mammalian=0.108;SiPhy_29way_logOdds=17.415;gerp++gt2=4.61;CADD=4.530;CADD_Phred=24.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,68:145:99:1921,0,2172 1 176845317 rs17313055 A G 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17313055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0413339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:67:67,0,71 1 176845528 rs2076341 C T 848.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.193;DP=52;ExcessHet=3.0103;FS=4.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=1.304;SOR=1.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361833.6,ENST00000367657.7,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.7248;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,28:52:99:877,0,661 1 176846217 rs2072936 G C 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.7248;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 176857347 rs2072935 A G 894.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.293;DP=82;ExcessHet=3.0103;FS=1.878;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-2.18;SOR=0.462;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.7233;1000g2015aug_all=0.829073;esp6500siv2_all=0.8473;ExAC_ALL=0.8270;ExAC_AFR=0.8698;ExAC_AMR=0.7055;ExAC_EAS=0.7902;ExAC_FIN=0.7840;ExAC_NFE=0.8419;ExAC_OTH=0.8293;ExAC_SAS=0.8612;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,33:82:99:923,0,1364 1 176863836 rs2281180 G C 1479.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.325;DP=79;ExcessHet=3.0103;FS=1.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=-0.564;SOR=0.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASTN1:NM_001286164:exon17:c.C2802G:p.H934Q,ASTN1:NM_004319:exon17:c.C2802G:p.H934Q,ASTN1:NM_207108:exon17:c.C2802G:p.H934Q;Gencode=Name\x3eENST00000424564.2,ENST00000361833.6,ENST00000367657.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2281180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.862;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.7233;1000g2015aug_all=0.829273;esp6500siv2_all=0.8483;ExAC_ALL=0.8282;ExAC_AFR=0.8695;ExAC_AMR=0.7062;ExAC_EAS=0.7917;ExAC_FIN=0.7867;ExAC_NFE=0.8431;ExAC_OTH=0.8304;ExAC_SAS=0.8626;SIFT_score=0.766;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=1.66;FATHMM_pred=T;phyloP100way_vertebrate=0.599;phyloP20way_mammalian=-0.331;SiPhy_29way_logOdds=3.169;gerp++gt2=2.28;CADD=2.008;CADD_Phred=16.26;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,38:79:99:1508,0,2324 1 176863842 rs6680908 C T 1521.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.403;DP=82;ExcessHet=3.0103;FS=1.811;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=-1.229;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASTN1:NM_001286164:exon17:c.G2796A:p.E932E,ASTN1:NM_004319:exon17:c.G2796A:p.E932E,ASTN1:NM_207108:exon17:c.G2796A:p.E932E;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.072;1000g2015aug_all=0.0816693;esp6500siv2_all=0.1111;ExAC_ALL=0.0749;ExAC_AFR=0.1615;ExAC_AMR=0.0407;ExAC_EAS=0.0369;ExAC_FIN=0.0782;ExAC_NFE=0.0847;ExAC_OTH=0.0771;ExAC_SAS=0.0232;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,41:82:99:1550,0,2282 1 176863867 rs2228956 T C 1172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.089;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-2.39;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASTN1:NM_001286164:exon17:c.A2771G:p.H924R,ASTN1:NM_004319:exon17:c.A2771G:p.H924R,ASTN1:NM_207108:exon17:c.A2771G:p.H924R;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.8593;1000g2015aug_amr=0.7233;1000g2015aug_all=0.828874;esp6500siv2_all=0.8473;ExAC_ALL=0.8268;ExAC_AFR=0.8694;ExAC_AMR=0.7059;ExAC_EAS=0.7911;ExAC_FIN=0.7836;ExAC_NFE=0.8416;ExAC_OTH=0.8293;ExAC_SAS=0.8609;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-0.83;MutationAssessor_pred=N;FATHMM_score=1.65;FATHMM_pred=T;phyloP100way_vertebrate=4.449;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=14.087;gerp++gt2=5.26;CADD=1.137;CADD_Phred=11.41;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,43:80:99:1201,0,998 1 176905200 rs2076071 A G 392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.942;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.208;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.2522;1000g2015aug_all=0.178315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,13:29:99:421,0,501 1 176913338 rs10913278 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.842;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1383\x3bName\x3e"312153:AluSp(SINE)";avsnp150=rs10913278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.2522;1000g2015aug_all=0.178914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,224 1 176913356 rs113669970 G C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.282;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1383\x3bName\x3e"312153:AluSp(SINE)";avsnp150=rs113669970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.2248;1000g2015aug_all=0.112021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,224 1 176915022 rs2076070 A G 1076.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.953;DP=91;ExcessHet=3.0103;FS=3.171;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.516;SOR=1.108;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361833.6,ENST00000367657.7,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.163;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.3026;1000g2015aug_all=0.240016;esp6500siv2_all=0.2530;ExAC_ALL=0.2095;ExAC_AFR=0.3970;ExAC_AMR=0.3027;ExAC_EAS=0.1430;ExAC_FIN=0.2320;ExAC_NFE=0.1813;ExAC_OTH=0.2065;ExAC_SAS=0.1358;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,39:91:99:1105,0,1477 1 176918136 rs4652208 A C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e203\x3bName\x3e"312164:MIR3(SINE)";avsnp150=rs4652208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.4986;1000g2015aug_all=0.506789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 176918504 rs2076073 A G 2381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.984;DP=197;ExcessHet=3.0103;FS=5.015;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.316;SOR=0.427;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2536;1000g2015aug_all=0.190695;esp6500siv2_all=0.1838;ExAC_ALL=0.1734;ExAC_AFR=0.2729;ExAC_AMR=0.2869;ExAC_EAS=0.1858;ExAC_FIN=0.2039;ExAC_NFE=0.1444;ExAC_OTH=0.1571;ExAC_SAS=0.1296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:106,91:197:99:2410,0,3001 1 176918675 rs2067038 T G 571.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.326;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.255;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361833.6,ENST00000367657.7,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2067038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.164;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.3055;1000g2015aug_all=0.254992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,18:35:99:600,0,570 1 176934389 rs12565733 T A 646.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.755;DP=56;ExcessHet=3.0103;FS=7.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.648;SOR=0.168;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000361833.6,ENST00000367657.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12565733;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.1063;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.2248;1000g2015aug_all=0.121605;esp6500siv2_all=0.1109;ExAC_ALL=0.1464;ExAC_AFR=0.0345;ExAC_AMR=0.2757;ExAC_EAS=0.1796;ExAC_FIN=0.1974;ExAC_NFE=0.1376;ExAC_OTH=0.1475;ExAC_SAS=0.1243;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,27:56:99:675,0,846 1 176984208 rs228019 C A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.368;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361833.6,ENST00000367657.7,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs228019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.4885;1000g2015aug_all=0.499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 176992553 rs172917 A G 2511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.116;DP=183;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-2.496;SOR=0.674;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASTN1:NM_001286164:exon7:c.T1425C:p.C475C,ASTN1:NM_004319:exon7:c.T1425C:p.C475C,ASTN1:NM_207108:exon7:c.T1425C:p.C475C;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs172917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.792;1000g2015aug_amr=0.4957;1000g2015aug_all=0.514177;esp6500siv2_all=0.6420;ExAC_ALL=0.6051;ExAC_AFR=0.7517;ExAC_AMR=0.5435;ExAC_EAS=0.2881;ExAC_FIN=0.6895;ExAC_NFE=0.6398;ExAC_OTH=0.6140;ExAC_SAS=0.5060;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:84,98:182:99:2540,0,2215 1 176998307 rs12041859 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361833.6,ENST00000367657.7,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12041859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.2097;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.2752;1000g2015aug_all=0.300719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 176998930 rs56297461 C T 502.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.059;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.029;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56297461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1461;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.2089;1000g2015aug_all=0.141374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,21:48:99:531,0,730 1 176999917 rs12568439 G A 478.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.685;DP=50;ExcessHet=3.0103;FS=4.244;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.2;SOR=1.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=intronic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367657.7,ENST00000361833.6,ENST00000424564.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.256;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.2104;1000g2015aug_all=0.148962;esp6500siv2_all=0.1277;ExAC_ALL=0.1690;ExAC_AFR=0.0483;ExAC_AMR=0.2544;ExAC_EAS=0.2439;ExAC_FIN=0.2380;ExAC_NFE=0.1608;ExAC_OTH=0.1523;ExAC_SAS=0.1524;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,19:50:99:507,0,974 1 177001896 rs2076069 C G 3240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.075;DP=231;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.576;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASTN1;Func=exonic;Gene=NM_001286164,NM_004319,NM_207108;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASTN1:NM_001286164:exon3:c.G561C:p.P187P,ASTN1:NM_004319:exon3:c.G561C:p.P187P,ASTN1:NM_207108:exon3:c.G561C:p.P187P;Gencode=Name\x3eENST00000424564.2,ENST00000367657.7,ENST00000361833.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.1616;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.2118;1000g2015aug_all=0.14996;esp6500siv2_all=0.1266;ExAC_ALL=0.1704;ExAC_AFR=0.0491;ExAC_AMR=0.2549;ExAC_EAS=0.2485;ExAC_FIN=0.2381;ExAC_NFE=0.1619;ExAC_OTH=0.1507;ExAC_SAS=0.1532;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:108,123:231:99:3269,0,2931 1 177250670 rs1045736 G A 434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=46;ExcessHet=3.0103;FS=6.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.653;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBRINP2;Func=UTR3;Gene=NM_021165;GeneDetail=NM_021165:c.*6G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361539.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1045736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.2376;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.1542;1000g2015aug_all=0.105631;esp6500siv2_all=0.1997;ExAC_ALL=0.1937;ExAC_AFR=0.0940;ExAC_AMR=0.1041;ExAC_EAS=0.0007;ExAC_FIN=0.1969;ExAC_NFE=0.2582;ExAC_OTH=0.1881;ExAC_SAS=0.1509;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,18:46:99:463,0,781 1 177756504 rs1923626 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110722,NM_033127;GeneDetail=dist\x3e77039\x3bdist\x3e141738;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1923626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3304;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.4357;1000g2015aug_amr=0.5274;1000g2015aug_all=0.469249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 177898799 rs623479 C T 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.741;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=2.428;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=UTR3;Gene=NM_033127;GeneDetail=NM_033127:c.*194G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.6412;1000g2015aug_all=0.575479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:273,0,516 1 177899562 rs626976 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e515\x3bName\x3e"313767:MIRb(SINE)";avsnp150=rs626976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.6484;1000g2015aug_all=0.595447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 177901619 rs7531399 G A 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.072;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.74;ReadPosRankSum=-0.042;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.2522;1000g2015aug_all=0.198882;esp6500siv2_all=0.2004;ExAC_ALL=0.2845;ExAC_AFR=0.2152;ExAC_AMR=0.2980;ExAC_EAS=0.1223;ExAC_FIN=0.35;ExAC_NFE=0.2926;ExAC_OTH=0.3051;ExAC_SAS=0.3252;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,9:32:99:212,0,679 1 177901655 rs3748792 G A 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.381;DP=53;ExcessHet=3.0103;FS=11.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.306;SOR=2.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEC16B:NM_033127:exon24:c.C2982T:p.G994G;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2637;1000g2015aug_all=0.228035;esp6500siv2_all=0.2321;ExAC_ALL=0.3273;ExAC_AFR=0.3491;ExAC_AMR=0.3971;ExAC_EAS=0.1671;ExAC_FIN=0.4398;ExAC_NFE=0.3422;ExAC_OTH=0.3235;ExAC_SAS=0.2963;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,19:53:99:762,0,1457 1 177901658 rs7554597 C T 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.709;DP=56;ExcessHet=3.0103;FS=11.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.059;SOR=2.441;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEC16B:NM_033127:exon24:c.G2979A:p.A993A;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2622;1000g2015aug_all=0.227835;esp6500siv2_all=0.2296;ExAC_ALL=0.3313;ExAC_AFR=0.3526;ExAC_AMR=0.4061;ExAC_EAS=0.1727;ExAC_FIN=0.4318;ExAC_NFE=0.3475;ExAC_OTH=0.3302;ExAC_SAS=0.2959;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,21:56:99:762,0,1457 1 177901713 rs522367 T C 1417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.106;DP=98;ExcessHet=3.0103;FS=6.813;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-1.4;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs522367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.4438;1000g2015aug_all=0.417133;esp6500siv2_all=0.4422;ExAC_ALL=0.5030;ExAC_AFR=0.5379;ExAC_AMR=0.5426;ExAC_EAS=0.3930;ExAC_FIN=0.5092;ExAC_NFE=0.5174;ExAC_OTH=0.4916;ExAC_SAS=0.4564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,55:98:99:1446,0,1093 1 177901741 rs684227 A G 1671.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.605;DP=114;ExcessHet=3.0103;FS=9.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.231;SOR=1.476;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs684227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6478;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.4017;1000g2015aug_amr=0.621;1000g2015aug_all=0.535743;esp6500siv2_all=0.4818;ExAC_ALL=0.5866;ExAC_AFR=0.4587;ExAC_AMR=0.6991;ExAC_EAS=0.7087;ExAC_FIN=0.6167;ExAC_NFE=0.5880;ExAC_OTH=0.5515;ExAC_SAS=0.5640;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,64:114:99:1700,0,1381 1 177902387 rs61745560 C A 1440.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.616;DP=129;ExcessHet=3.0103;FS=5.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.132;SOR=0.353;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEC16B:NM_033127:exon22:c.G2785T:p.A929S;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61745560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2608;1000g2015aug_all=0.227436;esp6500siv2_all=0.2494;ExAC_ALL=0.3201;ExAC_AFR=0.3627;ExAC_AMR=0.3663;ExAC_EAS=0.1859;ExAC_FIN=0.2856;ExAC_NFE=0.3359;ExAC_OTH=0.2869;ExAC_SAS=0.2817;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.104;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.83;MutationAssessor_pred=N;FATHMM_score=2.62;FATHMM_pred=T;phyloP100way_vertebrate=0.822;phyloP20way_mammalian=0.165;SiPhy_29way_logOdds=4.940;gerp++gt2=2.68;CADD=1.028;CADD_Phred=10.82;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,60:129:99:1469,0,2701 1 177902388 rs3813647 G A 1739.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.111;DP=130;ExcessHet=3.0103;FS=5.38;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.387;SOR=1.167;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEC16B:NM_033127:exon22:c.C2784T:p.P928P;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.0654;1000g2015aug_eur=0.172;1000g2015aug_afr=0.093;1000g2015aug_amr=0.111;1000g2015aug_all=0.0926518;esp6500siv2_all=0.1571;ExAC_ALL=0.1889;ExAC_AFR=0.1393;ExAC_AMR=0.1449;ExAC_EAS=0.0446;ExAC_FIN=0.2223;ExAC_NFE=0.2331;ExAC_OTH=0.2135;ExAC_SAS=0.1095;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,69:130:99:1768,0,2328 1 177902482 rs3813648 G A 1472.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=140;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.139;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2622;1000g2015aug_all=0.227236;esp6500siv2_all=0.2507;ExAC_ALL=0.2721;ExAC_AFR=0.3178;ExAC_AMR=0.2998;ExAC_EAS=0.1429;ExAC_FIN=0.2427;ExAC_NFE=0.2809;ExAC_OTH=0.2823;ExAC_SAS=0.2586;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,57:140:99:1501,0,2285 1 177902725 rs3813649 C T 946.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.845;DP=115;ExcessHet=3.0103;FS=0.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.049;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEC16B:NM_033127:exon21:c.G2618A:p.S873N;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.2594;1000g2015aug_all=0.219249;esp6500siv2_all=0.2436;ExAC_ALL=0.2342;ExAC_AFR=0.2626;ExAC_AMR=0.2343;ExAC_EAS=0.1094;ExAC_FIN=0.2141;ExAC_NFE=0.2462;ExAC_OTH=0.2194;ExAC_SAS=0.2427;SIFT_score=0.474;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=2.54;FATHMM_pred=T;phyloP100way_vertebrate=-1.488;phyloP20way_mammalian=-3.406;SiPhy_29way_logOdds=2.855;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,42:115:99:975,0,2079 1 177902753 rs591120 G C 952.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.51;DP=116;ExcessHet=3.0103;FS=4.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=1.266;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEC16B:NM_033127:exon21:c.C2590G:p.P864A;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs591120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2808;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.4409;1000g2015aug_all=0.408946;esp6500siv2_all=0.4388;ExAC_ALL=0.4236;ExAC_AFR=0.4700;ExAC_AMR=0.4325;ExAC_EAS=0.3267;ExAC_FIN=0.3867;ExAC_NFE=0.4383;ExAC_OTH=0.3842;ExAC_SAS=0.3977;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.264;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.845;MutationAssessor_pred=N;FATHMM_score=2.72;FATHMM_pred=T;phyloP100way_vertebrate=-0.280;phyloP20way_mammalian=-0.385;SiPhy_29way_logOdds=4.338;gerp++gt2=2.73;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,43:116:99:981,0,1972 1 177905174 rs2902210 T C 56.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2902210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2728;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.4168;1000g2015aug_amr=0.5504;1000g2015aug_all=0.467252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 177905469 rs7522194 C A 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.517;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.477;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEC16B:NM_033127:exon20:c.G2535T:p.Q845H;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.1006;1000g2015aug_amr=0.2349;1000g2015aug_all=0.195088;esp6500siv2_all=0.1964;ExAC_ALL=0.2628;ExAC_AFR=0.1555;ExAC_AMR=0.2743;ExAC_EAS=0.2085;ExAC_FIN=0.2771;ExAC_NFE=0.2775;ExAC_OTH=0.2610;ExAC_SAS=0.2802;SIFT_score=0.022;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.804;Polyphen2_HVAR_pred=P;LRT_score=0.338;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.045;MutationAssessor_pred=M;FATHMM_score=2.45;FATHMM_pred=T;phyloP100way_vertebrate=1.369;phyloP20way_mammalian=0.077;SiPhy_29way_logOdds=7.955;gerp++gt2=2.97;CADD=1.904;CADD_Phred=15.62;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,19:43:99:496,0,635 1 177906292 rs61816275 C T 184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1.252;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61816275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.2349;1000g2015aug_all=0.194489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:213,0,221 1 177913980 rs532842 T C 266.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.9683;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:295,24,0 1 177915474 rs842192 A C 1160.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=1.044;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs842192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.8761;1000g2015aug_all=0.791534;esp6500siv2_all=.;ExAC_ALL=0.8219;ExAC_AFR=0.6874;ExAC_AMR=0.8814;ExAC_EAS=0.8179;ExAC_FIN=0.8343;ExAC_NFE=0.8533;ExAC_OTH=0.8509;ExAC_SAS=0.8134;SIFT_score=0.726;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.82;FATHMM_pred=T;phyloP100way_vertebrate=-0.900;phyloP20way_mammalian=-1.174;SiPhy_29way_logOdds=2.172;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1189,93,0 1 177917479 rs6695715 G A 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.429;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-1.063;SOR=0.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2252;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.2305;1000g2015aug_all=0.195887;esp6500siv2_all=.;ExAC_ALL=0.2370;ExAC_AFR=0.1062;ExAC_AMR=0.2455;ExAC_EAS=0.2365;ExAC_FIN=0.2651;ExAC_NFE=0.2580;ExAC_OTH=0.2579;ExAC_SAS=0.2288;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:108,0,218 1 177921434 rs4652282 T A 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.588;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.338;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.7752;1000g2015aug_all=0.819089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:147,0,243 1 177927654 rs16828589 C A 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.622;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16828589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.5053;1000g2015aug_amr=0.1945;1000g2015aug_all=0.244409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:285,0,286 1 177929379 rs16828594 C T 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.577;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.387;SOR=0.641;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464631.6,ENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16828594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.163;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.1599;1000g2015aug_all=0.202077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:613,0,605 1 177929940 rs7413442 G A 1138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.5;DP=87;ExcessHet=3.0103;FS=3.4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.683;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SEC16B:NM_033127:exon7:c.C922T:p.L308L;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7413442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.5719;1000g2015aug_amr=0.2003;1000g2015aug_all=0.277955;esp6500siv2_all=0.2727;ExAC_ALL=0.2235;ExAC_AFR=0.5365;ExAC_AMR=0.1690;ExAC_EAS=0.2129;ExAC_FIN=0.1718;ExAC_NFE=0.2062;ExAC_OTH=0.2421;ExAC_SAS=0.1450;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,41:86:99:1167,0,1280 1 177929987 rs12040910 T C 1268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.142;DP=118;ExcessHet=3.0103;FS=4.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.485;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=exonic;Gene=NM_033127;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SEC16B:NM_033127:exon7:c.A875G:p.H292R;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12040910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.8941;1000g2015aug_amr=0.7882;1000g2015aug_all=0.809904;esp6500siv2_all=0.8052;ExAC_ALL=0.7723;ExAC_AFR=0.8663;ExAC_AMR=0.7752;ExAC_EAS=0.8020;ExAC_FIN=0.7121;ExAC_NFE=0.7564;ExAC_OTH=0.7662;ExAC_SAS=0.7875;SIFT_score=0.38;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.670;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.6;MutationAssessor_pred=N;FATHMM_score=1.01;FATHMM_pred=T;phyloP100way_vertebrate=0.957;phyloP20way_mammalian=-0.328;SiPhy_29way_logOdds=6.825;gerp++gt2=2.46;CADD=0.960;CADD_Phred=10.43;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,50:117:99:1297,0,1734 1 177930642 rs945640 G A 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.211;DP=47;ExcessHet=3.0103;FS=1.159;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.23;SOR=0.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464631.6,ENST00000354921.7,ENST00000308284.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.6142;1000g2015aug_amr=0.3977;1000g2015aug_all=0.444888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,18:47:99:441,0,802 1 177930894 rs945641 C T 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.288;DP=40;ExcessHet=3.0103;FS=1.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.573;SOR=0.951;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.774;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.7839;1000g2015aug_all=0.799121;esp6500siv2_all=0.7917;ExAC_ALL=0.7570;ExAC_AFR=0.8643;ExAC_AMR=0.7675;ExAC_EAS=0.7638;ExAC_FIN=0.7071;ExAC_NFE=0.7404;ExAC_OTH=0.7597;ExAC_SAS=0.7705;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:392,0,720 1 177931086 rs2862299 C T 172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.129;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-2.385;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e521\x3bName\x3e"313825:MIRc(SINE)";avsnp150=rs2862299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.4758;1000g2015aug_amr=0.3833;1000g2015aug_all=0.421326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:201,0,256 1 177933443 rs3813651 G A 994.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.186;DP=103;ExcessHet=3.0103;FS=6.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.3;SOR=0.411;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.4334;1000g2015aug_amr=0.3761;1000g2015aug_all=0.409145;esp6500siv2_all=0.4425;ExAC_ALL=0.4442;ExAC_AFR=0.4629;ExAC_AMR=0.3958;ExAC_EAS=0.4532;ExAC_FIN=0.3996;ExAC_NFE=0.4653;ExAC_OTH=0.4435;ExAC_SAS=0.3918;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,41:103:99:1023,0,1629 1 177934044 rs10798587 T C 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.875;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.084;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464631.6,ENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.3847;1000g2015aug_all=0.422524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:225,0,134 1 177934467 rs12135725 T C 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.261;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354921.7,ENST00000308284.10,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12135725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.3761;1000g2015aug_all=0.413339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,253 1 177935203 rs954502 A G 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.597;DP=27;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-1.189;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000464631.6,ENST00000308284.10,ENST00000354921.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs954502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3517;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.3775;1000g2015aug_all=0.412141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:316,0,263 1 177935275 rs1415085 A G 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.536;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.565;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSEC16B;Func=intronic;Gene=NM_033127;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308284.10,ENST00000354921.7,ENST00000464631.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1415085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7986;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.8559;1000g2015aug_all=0.8123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,224 1 178063551 rs316255 A C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRASAL2;Func=UTR5;Gene=NM_170692;GeneDetail=NM_170692:c.-77A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367649.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs316255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 178482984 rs10798610 T G 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.834;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=1.44;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX35;Func=intronic;Gene=NM_001170722,NM_001170723,NM_001170724,NM_032126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367641.7,ENST00000367643.7,ENST00000367639.1,ENST00000319416.6,ENST00000367642.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.5778;1000g2015aug_all=0.560503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:81:253,0,81 1 178483231 rs10913563 G A 2676.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.35;DP=208;ExcessHet=3.0103;FS=5.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.046;SOR=0.572;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX35;Func=intronic;Gene=NM_001170722,NM_001170723,NM_001170724,NM_032126;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367643.7,ENST00000367641.7,ENST00000367642.3,ENST00000319416.6,ENST00000367639.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.4827;1000g2015aug_all=0.366613;esp6500siv2_all=0.3616;ExAC_ALL=0.4029;ExAC_AFR=0.2637;ExAC_AMR=0.4286;ExAC_EAS=0.3937;ExAC_FIN=0.4555;ExAC_NFE=0.4164;ExAC_OTH=0.4412;ExAC_SAS=0.3979;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.62;FATHMM_pred=T;phyloP100way_vertebrate=0.788;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=6.178;gerp++gt2=2.42;CADD=2.290;CADD_Phred=18.10;ALLELE_END GT:AD:DP:GQ:PL 0/1:98,110:208:99:2705,0,2396 1 178489978 rs3813636 T G 997.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.36;DP=71;ExcessHet=3.0103;FS=0.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.725;SOR=0.823;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX35;Func=exonic;Gene=NM_001170722,NM_001170723,NM_001170724,NM_032126;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TEX35:NM_001170722:exon7:c.T536G:p.L179R,TEX35:NM_001170723:exon7:c.T512G:p.L171R,TEX35:NM_001170724:exon7:c.T512G:p.L171R,TEX35:NM_032126:exon7:c.T512G:p.L171R;Gencode=Name\x3eENST00000319416.6,ENST00000367642.3,ENST00000367639.1,ENST00000367643.7,ENST00000367641.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.4827;1000g2015aug_all=0.36901;esp6500siv2_all=0.3686;ExAC_ALL=0.4016;ExAC_AFR=0.2579;ExAC_AMR=0.4263;ExAC_EAS=0.3970;ExAC_FIN=0.4547;ExAC_NFE=0.4154;ExAC_OTH=0.4346;ExAC_SAS=0.3987;SIFT_score=0.045;SIFT_pred=D;Polyphen2_HDIV_score=0.95;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.648;Polyphen2_HVAR_pred=P;LRT_score=0.732;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=1.74;FATHMM_pred=T;phyloP100way_vertebrate=0.082;phyloP20way_mammalian=1.011;SiPhy_29way_logOdds=5.125;gerp++gt2=.;CADD=3.674;CADD_Phred=23.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,37:71:99:1026,0,873 1 178492175 rs10798612 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.126;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX35;Func=intronic;Gene=NM_001170722,NM_001170724;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367639.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5230\x3bName\x3e"314866:L1MA1(LINE)";avsnp150=rs10798612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.3589;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.4813;1000g2015aug_all=0.358826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 178492447 rs7527160 T A 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.815;DP=18;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.817;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEX35;Func=exonic;Gene=NM_001170722,NM_001170724;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TEX35:NM_001170722:exon9:c.T621A:p.A207A,TEX35:NM_001170724:exon9:c.T597A:p.A199A;Gencode=Name\x3eENST00000367639.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5230\x3bName\x3e"314866:L1MA1(LINE)";avsnp150=rs7527160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.503;1000g2015aug_sas=0.456;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.7239;1000g2015aug_amr=0.5937;1000g2015aug_all=0.57508;esp6500siv2_all=0.5716;ExAC_ALL=0.5359;ExAC_AFR=0.7093;ExAC_AMR=0.6119;ExAC_EAS=0.4633;ExAC_FIN=0.5;ExAC_NFE=0.5346;ExAC_OTH=0.5741;ExAC_SAS=0.4985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:192,0,303 1 178494428 rs6664493 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001170724,NR_033186;GeneDetail=dist\x3e1793\x3bdist\x3e17503;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6664493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4038;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.2666;1000g2015aug_all=0.308107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 178498366 rs4233172 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001170724,NR_033186;GeneDetail=dist\x3e5731\x3bdist\x3e13565;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e585\x3bName\x3e"314876:MLT1O(LTR)";avsnp150=rs4233172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.7262;1000g2015aug_all=0.694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 178499068 rs6675811 T A 535.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.195;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.525;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001170724,NR_033186;GeneDetail=dist\x3e6433\x3bdist\x3e12863;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.3579;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.2997;1000g2015aug_all=0.351637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:564,0,411 1 178508615 rs6688946 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001170724,NR_033186;GeneDetail=dist\x3e15980\x3bdist\x3e3316;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.8473;1000g2015aug_all=0.868011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 178513895 rs10798615 T G 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.545;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.195;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_intronic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5367;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3646;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:212,0,203 1 178514165 rs12141152 C T 884.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=100;ExcessHet=3.0103;FS=3.898;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-0.47;SOR=0.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_intronic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.365;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.2738;1000g2015aug_all=0.282348;esp6500siv2_all=.;ExAC_ALL=0.3650;ExAC_AFR=0.1070;ExAC_AMR=0.275;ExAC_EAS=0.4333;ExAC_FIN=0.3682;ExAC_NFE=0.3869;ExAC_OTH=0.34;ExAC_SAS=0.3797;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,37:99:99:913,0,1656 1 178514622 rs12568310 C T 1297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.681;DP=100;ExcessHet=3.0103;FS=1.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.743;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_exonic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e313\x3bName\x3e"314906:MIRb(SINE)";avsnp150=rs12568310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.3401;1000g2015aug_all=0.309704;esp6500siv2_all=0.2904;ExAC_ALL=0.4218;ExAC_AFR=0.25;ExAC_AMR=0.4816;ExAC_EAS=0.4881;ExAC_FIN=0.5216;ExAC_NFE=0.4496;ExAC_OTH=0.4681;ExAC_SAS=0.3787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,46:100:99:1326,0,1456 1 178515135 rs4650992 A T 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.815;DP=53;ExcessHet=3.0103;FS=4.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.906;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_intronic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4650992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.3631;1000g2015aug_all=0.383187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,22:53:99:589,0,948 1 178515187 rs4650993 A G 552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.539;DP=57;ExcessHet=3.0103;FS=1.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-2.005;SOR=0.978;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_intronic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e185\x3bName\x3e"314907:L2b(LINE)";avsnp150=rs4650993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.3631;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,24:57:99:581,0,832 1 178515312 rs4650994 G A 261.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.707;DP=20;ExcessHet=3.0103;FS=6.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.303;SOR=0.033;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf220;Func=ncRNA_intronic;Gene=NR_033186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000521244.1;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4650994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHDL_cholesterol;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3631;1000g2015aug_all=0.384385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:290,0,306 1 178523164 rs12096732 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033186,NR_039622;GeneDetail=dist\x3e5140\x3bdist\x3e123720;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.3545;1000g2015aug_all=0.349241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 178524150 rs4412563 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033186,NR_039622;GeneDetail=dist\x3e6126\x3bdist\x3e122734;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33775\x3bName\x3e"314928:HERVK9-int(LTR)";avsnp150=rs4412563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.8648;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.7233;1000g2015aug_all=0.752796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 178524300 rs4500275 A G 88.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.803;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.292;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033186,NR_039622;GeneDetail=dist\x3e6276\x3bdist\x3e122584;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33775\x3bName\x3e"314928:HERVK9-int(LTR)";avsnp150=rs4500275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.3689;1000g2015aug_all=0.401558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:117,0,101 1 178524554 rs4500276 A G 377.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.06;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033186,NR_039622;GeneDetail=dist\x3e6530\x3bdist\x3e122330;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33775\x3bName\x3e"314928:HERVK9-int(LTR)";avsnp150=rs4500276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.652;1000g2015aug_amr=0.7421;1000g2015aug_all=0.794529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:406,39,0 1 178524596 rs4354501 T C 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.318;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=-0.05;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033186,NR_039622;GeneDetail=dist\x3e6572\x3bdist\x3e122288;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33775\x3bName\x3e"314928:HERVK9-int(LTR)";avsnp150=rs4354501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.3689;1000g2015aug_all=0.403754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:131,0,272 1 178646752 rs2773075 A C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NR_039622;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7054\x3bName\x3e"315192:L1MA9(LINE)";avsnp150=rs2773075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.9914;1000g2015aug_all=0.958067;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 178694322 rs7515118 C A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRALGPS2;Func=UTR5;Gene=NM_001286247,NM_152663;GeneDetail=NM_001286247:c.-51578C>A\x3bNM_152663:c.-51578C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608517.1,ENST00000367635.7,ENST00000367634.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21\x3bName\x3e"315313:(CG)n(Simple_repeat)";avsnp150=rs7515118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 178776985 rs6690324 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRALGPS2;Func=intronic;Gene=NM_001286247,NM_152663;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367634.6,ENST00000367635.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 178885815 rs78705863 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRALGPS2;Func=UTR3;Gene=NM_001286247,NM_152663;GeneDetail=NM_001286247:c.*321T>C\x3bNM_152663:c.*321T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367635.7,ENST00000367634.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78705863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.000798722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 179023879 rs12735672 T G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.12;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM20B;Func=intronic;Gene=NM_001324310,NM_001324311,NM_014864;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263733.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12735672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.3588;1000g2015aug_all=0.359026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 179040930 rs10913689 T C 278.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=0;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM20B;Func=intronic;Gene=NM_001324310,NM_001324311,NM_014864;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263733.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.2896;1000g2015aug_all=0.282748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:15:307,0,15 1 179041011 rs3820163 A G 565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.508;DP=34;ExcessHet=3.0103;FS=4.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.013;SOR=1.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM20B;Func=intronic;Gene=NM_001324310,NM_001324311,NM_014864;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263733.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.5288;1000g2015aug_all=0.690695;esp6500siv2_all=0.7172;ExAC_ALL=0.6461;ExAC_AFR=0.8841;ExAC_AMR=0.4816;ExAC_EAS=0.6181;ExAC_FIN=0.7431;ExAC_NFE=0.6407;ExAC_OTH=0.6759;ExAC_SAS=0.6069;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:594,0,459 1 179041398 rs2025584 A G 477.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.752;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.66;SOR=0.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM20B;Func=UTR3;Gene=NM_001324310,NM_001324311,NM_014864;GeneDetail=NM_001324310:c.*119A>G\x3bNM_001324311:c.*119A>G\x3bNM_014864:c.*119A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263733.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2025584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.6094;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.9274;1000g2015aug_amr=0.5288;1000g2015aug_all=0.691094;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,16:32:99:506,0,568 1 179051300 rs2296377 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR3A;Func=exonic;Gene=NM_022371;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TOR3A:NM_022371:exon1:c.T37C:p.F13L;Gencode=Name\x3eENST00000367627.7,ENST00000352445.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.6441;1000g2015aug_all=0.767173;esp6500siv2_all=0.8185;ExAC_ALL=0.7553;ExAC_AFR=0.9459;ExAC_AMR=0.6686;ExAC_EAS=0.6956;ExAC_FIN=0.8584;ExAC_NFE=0.7507;ExAC_OTH=0.7765;ExAC_SAS=0.7489;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.633;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.6;MutationAssessor_pred=N;FATHMM_score=1.31;FATHMM_pred=T;phyloP100way_vertebrate=-1.481;phyloP20way_mammalian=-0.746;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 179052006 rs2274227 G T 877.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.056;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.013;SOR=0.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR3A;Func=intronic;Gene=NM_022371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367627.7,ENST00000352445.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e184\x3bName\x3e"315983:MIR3(SINE)";avsnp150=rs2274227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.3689;1000g2015aug_all=0.381989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,33:89:99:906,0,1730 1 179054692 rs912758 T G 2990.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.348;DP=223;ExcessHet=3.0103;FS=0.501;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.388;SOR=0.769;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR3A;Func=intronic;Gene=NM_022371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352445.10,ENST00000367627.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.5317;1000g2015aug_all=0.684305;esp6500siv2_all=.;ExAC_ALL=0.6436;ExAC_AFR=0.8828;ExAC_AMR=0.4801;ExAC_EAS=0.5943;ExAC_FIN=0.7269;ExAC_NFE=0.6393;ExAC_OTH=0.6722;ExAC_SAS=0.6154;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:104,116:220:99:3019,0,2847 1 179066907 rs79003648 T G 576.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.453;DP=49;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.3;SOR=1.058;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022371,NM_001168236;GeneDetail=dist\x3e1778\x3bdist\x3e1555;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352445.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2098\x3bName\x3e"316008:LTR8A(LTR)";avsnp150=rs79003648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,24:48:99:605,0,626 1 179067071 rs10913690 C A 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.431;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022371,NM_001168236;GeneDetail=dist\x3e1942\x3bdist\x3e1391;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352445.10;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2098\x3bName\x3e"316008:LTR8A(LTR)";avsnp150=rs10913690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.683;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.711;1000g2015aug_amr=0.5259;1000g2015aug_all=0.627995;esp6500siv2_all=.;ExAC_ALL=0.6802;ExAC_AFR=0.6926;ExAC_AMR=0.6616;ExAC_EAS=0.4959;ExAC_FIN=0;ExAC_NFE=0.6900;ExAC_OTH=0.6957;ExAC_SAS=0.6803;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 179084080 rs2274230 T G 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.841;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-0.586;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=exonic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ABL2:NM_001136001:exon8:c.A1431C:p.L477L,ABL2:NM_001168236:exon8:c.A1431C:p.L477L,ABL2:NM_001168238:exon8:c.A1431C:p.L477L,ABL2:NM_001168239:exon8:c.A1386C:p.L462L,ABL2:NM_001136000:exon9:c.A1449C:p.L483L,ABL2:NM_001168237:exon9:c.A1494C:p.L498L,ABL2:NM_005158:exon9:c.A1449C:p.L483L,ABL2:NM_007314:exon9:c.A1494C:p.L498L;Gencode=Name\x3eENST00000512653.5,ENST00000367623.8,ENST00000502732.5,ENST00000392043.3,ENST00000511413.5,ENST00000504405.5,ENST00000507173.5,ENST00000344730.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0443291;esp6500siv2_all=0.0697;ExAC_ALL=0.0680;ExAC_AFR=0.0196;ExAC_AMR=0.0290;ExAC_EAS=0.0716;ExAC_FIN=0.1533;ExAC_NFE=0.0876;ExAC_OTH=0.0738;ExAC_SAS=0.0102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,8:29:99:178,0,552 1 179087934 rs2171959 T C 657.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.345;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.992;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000504405.5,ENST00000392043.3,ENST00000511413.5,ENST00000507173.5,ENST00000344730.7,ENST00000367623.8,ENST00000512653.5,ENST00000502732.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2171959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.5274;1000g2015aug_all=0.629193;esp6500siv2_all=0.6515;ExAC_ALL=0.6247;ExAC_AFR=0.7153;ExAC_AMR=0.4627;ExAC_EAS=0.5179;ExAC_FIN=0.6555;ExAC_NFE=0.6356;ExAC_OTH=0.6785;ExAC_SAS=0.6789;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,22:39:99:686,0,487 1 179089213 rs1858551 C T 228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.451;DP=25;ExcessHet=3.0103;FS=4.224;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.418;SOR=0.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344730.7,ENST00000507173.5,ENST00000504405.5,ENST00000392043.3,ENST00000511413.5,ENST00000502732.5,ENST00000367623.8,ENST00000512653.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e664\x3bName\x3e"316048:FLAM_C(SINE)";avsnp150=rs1858551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.5274;1000g2015aug_all=0.629193;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:257,0,449 1 179089475 rs9726961 C G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.667;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=0.144;SOR=0.09;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344730.7,ENST00000507173.5,ENST00000504405.5,ENST00000392043.3,ENST00000511413.5,ENST00000502732.5,ENST00000367623.8,ENST00000512653.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9726961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.5274;1000g2015aug_all=0.629193;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,3:15:81:81,0,424 1 179089491 rs9728480 A C 64.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=-0.778;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000511413.5,ENST00000392043.3,ENST00000504405.5,ENST00000507173.5,ENST00000344730.7,ENST00000512653.5,ENST00000367623.8,ENST00000502732.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9728480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.5274;1000g2015aug_all=0.629193;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:93:93,0,257 1 179100710 rs17277358 C T 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.62;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=1.075;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000502732.5,ENST00000367623.8,ENST00000512653.5,ENST00000344730.7,ENST00000507173.5,ENST00000504405.5,ENST00000392043.3,ENST00000511413.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17277358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0441294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:173,0,298 1 179102268 rs28914510 A T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=intronic;Gene=NM_001136000,NM_001136001,NM_001168236,NM_001168237,NM_001168238,NM_001168239,NM_005158,NM_007314;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367623.8,ENST00000512653.5,ENST00000502732.5,ENST00000504405.5,ENST00000392043.3,ENST00000511413.5,ENST00000507173.5,ENST00000344730.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2283\x3bName\x3e"316077:AluSg(SINE)";avsnp150=rs28914510;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.0663;1000g2015aug_all=0.0682907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 179112145 rs1318056 C G 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.05;DP=56;ExcessHet=3.0103;FS=1.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.157;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eABL2;Func=exonic;Gene=NM_001136000,NM_001168239,NM_005158;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ABL2:NM_001136000:exon1:c.G35C:p.S12T,ABL2:NM_001168239:exon1:c.G35C:p.S12T,ABL2:NM_005158:exon1:c.G35C:p.S12T;Gencode=Name\x3eENST00000502732.5,ENST00000367623.8,ENST00000512653.5,ENST00000507173.5,ENST00000344730.7,ENST00000504405.5,ENST00000511413.5,ENST00000392043.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1318056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0079;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0742812;esp6500siv2_all=0.0931;ExAC_ALL=0.0749;ExAC_AFR=0.1082;ExAC_AMR=0.0443;ExAC_EAS=0.0022;ExAC_FIN=0.0609;ExAC_NFE=0.0846;ExAC_OTH=0.0889;ExAC_SAS=0.0800;SIFT_score=0.194;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.87;FATHMM_pred=T;phyloP100way_vertebrate=-0.688;phyloP20way_mammalian=-0.343;SiPhy_29way_logOdds=8.319;gerp++gt2=2.49;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:604,0,786 1 179307047 rs10913726 T A 707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.931;DP=51;ExcessHet=3.0103;FS=2.495;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-1.753;SOR=1.172;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367619.7,ENST00000540564.5,ENST00000539888.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.1196;1000g2015aug_all=0.150958;esp6500siv2_all=0.2096;ExAC_ALL=0.2232;ExAC_AFR=0.2055;ExAC_AMR=0.1296;ExAC_EAS=0.0347;ExAC_FIN=0.2812;ExAC_NFE=0.2649;ExAC_OTH=0.2299;ExAC_SAS=0.2126;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:736,0,504 1 179310612 rs12755434 T G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540564.5,ENST00000539888.5,ENST00000367619.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12755434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.1124;1000g2015aug_all=0.132388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:78,0,69 1 179311096 rs115689795 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.105;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539888.5,ENST00000540564.5,ENST00000367619.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115689795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0268;1000g2015aug_afr=.;1000g2015aug_amr=0.0259;1000g2015aug_all=0.00898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,178 1 179312102 rs4651024 T C 1294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=93;ExcessHet=3.0103;FS=1.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.042;SOR=0.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540564.5,ENST00000539888.5,ENST00000367619.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4651024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.4294;1000g2015aug_all=0.456669;esp6500siv2_all=0.4696;ExAC_ALL=0.4617;ExAC_AFR=0.3890;ExAC_AMR=0.3971;ExAC_EAS=0.4809;ExAC_FIN=0.4670;ExAC_NFE=0.4920;ExAC_OTH=0.4813;ExAC_SAS=0.4172;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,49:93:99:1323,0,1168 1 179312235 rs10913728 G A 591.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.083;DP=51;ExcessHet=3.0103;FS=1.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.077;SOR=0.965;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367619.7,ENST00000539888.5,ENST00000540564.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e219\x3bName\x3e"316638:L2(LINE)";avsnp150=rs10913728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.341;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.4813;1000g2015aug_all=0.426717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:620,0,1165 1 179316687 rs13306729 A G 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.94;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.371;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539888.5,ENST00000540564.5,ENST00000367619.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13306729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.1103;1000g2015aug_afr=0.152;1000g2015aug_amr=0.0634;1000g2015aug_all=0.096845;esp6500siv2_all=0.1247;ExAC_ALL=0.0948;ExAC_AFR=0.1476;ExAC_AMR=0.0386;ExAC_EAS=0.0900;ExAC_FIN=0.1631;ExAC_NFE=0.1066;ExAC_OTH=0.1107;ExAC_SAS=0.0246;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:216,0,182 1 179319580 rs3753527 T C 641.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.057;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.408;SOR=0.724;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOAT1;Func=intronic;Gene=NM_001252511,NM_001252512,NM_003101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539888.5,ENST00000540564.5,ENST00000367619.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.673;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.7205;1000g2015aug_all=0.732827;esp6500siv2_all=0.6648;ExAC_ALL=0.6626;ExAC_AFR=0.7129;ExAC_AMR=0.7026;ExAC_EAS=0.8880;ExAC_FIN=0.6142;ExAC_NFE=0.6273;ExAC_OTH=0.6336;ExAC_SAS=0.6484;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:670,0,573 1 179333872 rs10798669 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2282\x3bName\x3e"316684:AluSg(SINE)";avsnp150=rs10798669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 179339334 rs6666358 G A 1013.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617277.4,ENST00000457238.6,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.6628;1000g2015aug_all=0.67492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1042,84,0 1 179347530 rs10913739 C G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e206\x3bName\x3e"316714:L2(LINE)";avsnp150=rs10913739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0506;1000g2015aug_sas=0.182;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.2421;1000g2015aug_all=0.208866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 179351606 rs4625243 G C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1319\x3bName\x3e"316724:L1MC4(LINE)";avsnp150=rs4625243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.68;1000g2015aug_amr=0.8386;1000g2015aug_all=0.77476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:71,0,33 1 179354304 rs7541905 A G 358.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.715;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.29;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.8415;1000g2015aug_all=0.777556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:387,0,425 1 179363275 rs16854064 C A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.842;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16854064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1022;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.0634;1000g2015aug_all=0.096845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 179372869 rs59004575 C T 53.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2228\x3bName\x3e"316774:AluSz6(SINE)";avsnp150=rs59004575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0926518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:81,6,0 1 179398536 rs6662859 G A 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9028;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.826;1000g2015aug_amr=0.8991;1000g2015aug_all=0.872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 179398563 rs4652382 C G 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.579;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.8357;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,104 1 179398875 rs4652383 T A 492.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.484;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.85;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.2435;1000g2015aug_all=0.210463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,19:34:99:521,0,456 1 179398932 rs55708548 G C 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.105;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.275;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55708548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.0235;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:212,0,219 1 179401526 rs7550638 C G 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.897;DP=42;ExcessHet=3.0103;FS=4.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=-0.339;SOR=0.957;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550638;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.1988;1000g2015aug_all=0.163538;esp6500siv2_all=0.2179;ExAC_ALL=0.2426;ExAC_AFR=0.2108;ExAC_AMR=0.2667;ExAC_EAS=0.0506;ExAC_FIN=0.3397;ExAC_NFE=0.2791;ExAC_OTH=0.2120;ExAC_SAS=0.2070;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,15:41:99:300,0,656 1 179401559 rs7550656 C T 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.063;DP=35;ExcessHet=3.0103;FS=3.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=-1.06;SOR=1.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2763;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.245;1000g2015aug_all=0.219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,10:35:99:206,0,802 1 179414105 rs11577579 A C 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.048;DP=48;ExcessHet=3.0103;FS=4.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.075;SOR=1.685;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=exonic;Gene=NM_144696;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AXDND1:NM_144696:exon16:c.A1564C:p.I522L;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.2435;1000g2015aug_all=0.212859;esp6500siv2_all=0.2978;ExAC_ALL=0.2849;ExAC_AFR=0.2970;ExAC_AMR=0.2633;ExAC_EAS=0.0460;ExAC_FIN=0.3807;ExAC_NFE=0.3237;ExAC_OTH=0.2639;ExAC_SAS=0.2233;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.095;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=2.27;FATHMM_pred=T;phyloP100way_vertebrate=0.035;phyloP20way_mammalian=-0.569;SiPhy_29way_logOdds=7.962;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,18:48:99:539,0,920 1 179416956 rs10913766 A G 783.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.052;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.277;SOR=0.575;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.289;1000g2015aug_amr=0.245;1000g2015aug_all=0.213259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,30:66:99:812,0,1021 1 179417068 rs10913767 A G 906.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.68;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.44;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.289;1000g2015aug_amr=0.2435;1000g2015aug_all=0.213059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,35:62:99:935,0,766 1 179417101 rs10913768 T G 799.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.865;DP=53;ExcessHet=3.0103;FS=6.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.045;SOR=0.192;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.2493;1000g2015aug_all=0.240815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,31:53:99:828,0,689 1 179418056 rs10913769 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1805\x3bName\x3e"316861:AluJb(SINE)";avsnp150=rs10913769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.3896;1000g2015aug_amr=0.2493;1000g2015aug_all=0.240615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 179418132 rs10913770 C T 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.02;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-0.125;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1805\x3bName\x3e"316861:AluJb(SINE)";avsnp150=rs10913770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.2435;1000g2015aug_all=0.211062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:254,0,209 1 179418181 rs10913771 T C 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.89;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.119;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1805\x3bName\x3e"316861:AluJb(SINE)";avsnp150=rs10913771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.3896;1000g2015aug_amr=0.2493;1000g2015aug_all=0.240615;esp6500siv2_all=.;ExAC_ALL=0.4045;ExAC_AFR=0.4375;ExAC_AMR=0.4375;ExAC_EAS=0.075;ExAC_FIN=.;ExAC_NFE=0.4757;ExAC_OTH=0.4062;ExAC_SAS=0.3864;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:461,0,372 1 179418562 rs7522064 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7936\x3bName\x3e"316862:L1MB8(LINE)";avsnp150=rs7522064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9028;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.826;1000g2015aug_amr=0.9006;1000g2015aug_all=0.872804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 179426268 rs73036735 A G 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=-0.82;SOR=0.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=Score\x3e0.938306\x3bName\x3echr8:82291296;Repeat=.;avsnp150=rs73036735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.062;1000g2015aug_all=0.0942492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:66:66,0,225 1 179452520 rs76901676 C A 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-2.45;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76901676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.062;1000g2015aug_all=0.0942492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:186,0,137 1 179461975 rs59377201 T C 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.245;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=1.863;SOR=0.385;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59377201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.1528;1000g2015aug_amr=0.0605;1000g2015aug_all=0.0938498;esp6500siv2_all=0.0342;ExAC_ALL=0.0907;ExAC_AFR=0.1483;ExAC_AMR=0.0424;ExAC_EAS=0.0965;ExAC_FIN=0.1412;ExAC_NFE=0.0995;ExAC_OTH=0.0979;ExAC_SAS=0.0235;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,20:29:99:578,0,199 1 179462149 rs7549194 A G 432.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000457238.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2737\x3bName\x3e"316942:L1ME1(LINE)";avsnp150=rs7549194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9932;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:461,36,0 1 179494665 rs4620484 C T 164.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1912\x3bName\x3e"317011:AluJr4(SINE)";avsnp150=rs4620484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.9107;1000g2015aug_all=0.883387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:193,15,0 1 179497359 rs6698201 T C 537.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1;Func=intronic;Gene=NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.798;1000g2015aug_amr=0.9063;1000g2015aug_all=0.88139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:566,48,0 1 179520151 rs1410590 C T 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.55;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1,NPHS2;Func=UTR3;Gene=NM_001297575,NM_014625;GeneDetail=NM_001297575:c.*157G>A\x3bNM_014625:c.*157G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000367615.8,ENST00000367616.4,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1410590;cosmic70=.;CLNALLELEID=226219;CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.938;1000g2015aug_all=0.905152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 179520254 rs1410591 C G 901.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.846;DP=57;ExcessHet=3.0103;FS=4.279;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-1.182;SOR=1.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1,NPHS2;Func=UTR3;Gene=NM_001297575,NM_014625;GeneDetail=NM_001297575:c.*54G>C\x3bNM_014625:c.*54G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457238.6,ENST00000367615.8,ENST00000367616.4,ENST00000617277.4,ENST00000367618.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1410591;cosmic70=.;CLNALLELEID=278562;CLNDN=Steroid-resistant_nephrotic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.6354;1000g2015aug_all=0.587859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,32:57:99:930,0,633 1 179520422 rs3818587 T C 1685.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.133;DP=139;ExcessHet=3.0103;FS=4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.275;SOR=0.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2,AXDND1;Func=exonic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NPHS2:NM_001297575:exon7:c.A834G:p.L278L,NPHS2:NM_014625:exon8:c.A1038G:p.L346L;Gencode=Name\x3eENST00000367618.7,ENST00000367616.4,ENST00000617277.4,ENST00000457238.6,ENST00000367615.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818587;cosmic70=.;CLNALLELEID=249552;CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0710863;esp6500siv2_all=0.0896;ExAC_ALL=0.0737;ExAC_AFR=0.0914;ExAC_AMR=0.0321;ExAC_EAS=0.0917;ExAC_FIN=0.1332;ExAC_NFE=0.0849;ExAC_OTH=0.0749;ExAC_SAS=0.0133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,68:139:99:1714,0,1836 1 179520506 rs1410592 G A 1508.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.097;DP=99;ExcessHet=3.0103;FS=4.028;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.07;SOR=0.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2,AXDND1;Func=exonic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NPHS2:NM_001297575:exon7:c.C750T:p.A250A,NPHS2:NM_014625:exon8:c.C954T:p.A318A;Gencode=Name\x3eENST00000367618.7,ENST00000457238.6,ENST00000367615.8,ENST00000617277.4,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1410592;cosmic70=.;CLNALLELEID=249553;CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.634;1000g2015aug_all=0.58766;esp6500siv2_all=0.6172;ExAC_ALL=0.6192;ExAC_AFR=0.5972;ExAC_AMR=0.6658;ExAC_EAS=0.4806;ExAC_FIN=0.6241;ExAC_NFE=0.6358;ExAC_OTH=0.6112;ExAC_SAS=0.6042;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,54:99:99:1537,0,1236 1 179520660 rs2274624 C G 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.839;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.56;ReadPosRankSum=-0.195;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1,NPHS2;Func=intronic;Gene=NM_001297575,NM_014625,NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000367615.8,ENST00000457238.6,ENST00000367616.4,ENST00000617277.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e244\x3bName\x3e"317040:L2c(LINE)";avsnp150=rs2274624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0710863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,6:21:99:187,0,461 1 179522099 rs78465132 G A 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.307;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1,NPHS2;Func=intronic;Gene=NM_001297575,NM_014625,NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000617277.4,ENST00000367616.4,ENST00000457238.6,ENST00000367615.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78465132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0239;1000g2015aug_afr=.;1000g2015aug_amr=0.0274;1000g2015aug_all=0.00878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:202,0,202 1 179522227 rs61826364 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAXDND1,NPHS2;Func=intronic;Gene=NM_001297575,NM_014625,NM_144696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367618.7,ENST00000367615.8,ENST00000457238.6,ENST00000617277.4,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61826364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.184;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.2061;1000g2015aug_all=0.133187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 179526052 rs73051834 A T 352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.909;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-1.218;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=intronic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367615.8,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73051834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.0706;1000g2015aug_all=0.114217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:381,0,393 1 179528917 rs12401708 G A 882.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.358;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.902;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=intronic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367615.8,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.2061;1000g2015aug_all=0.133387;esp6500siv2_all=0.2016;ExAC_ALL=0.2832;ExAC_AFR=0.0907;ExAC_AMR=0.3503;ExAC_EAS=0.0718;ExAC_FIN=0.4193;ExAC_NFE=0.3471;ExAC_OTH=0.2925;ExAC_SAS=0.2271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,33:84:99:911,0,1296 1 179528942 rs12401711 G A 767.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.037;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-2.976;SOR=0.616;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=intronic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367615.8,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.2061;1000g2015aug_all=0.133387;esp6500siv2_all=0.1937;ExAC_ALL=0.2474;ExAC_AFR=0.0843;ExAC_AMR=0.2604;ExAC_EAS=0.0550;ExAC_FIN=0.3562;ExAC_NFE=0.3155;ExAC_OTH=0.2538;ExAC_SAS=0.2163;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,31:75:99:796,0,1225 1 179529150 rs10913817 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=intronic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367615.8,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.638;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.7046;1000g2015aug_all=0.696685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 179533915 rs3738423 G A 421.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.697;DP=44;ExcessHet=3.0103;FS=2.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.633;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=exonic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NPHS2:NM_001297575:exon2:c.C288T:p.S96S,NPHS2:NM_014625:exon2:c.C288T:p.S96S;Gencode=Name\x3eENST00000367616.4,ENST00000367615.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738423;cosmic70=.;CLNALLELEID=249558;CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0952;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0710863;esp6500siv2_all=0.0893;ExAC_ALL=0.0745;ExAC_AFR=0.0917;ExAC_AMR=0.0326;ExAC_EAS=0.0928;ExAC_FIN=0.1336;ExAC_NFE=0.0858;ExAC_OTH=0.0748;ExAC_SAS=0.0135;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,18:44:99:450,0,747 1 179544898 rs1079292 T C 733.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=exonic;Gene=NM_001297575,NM_014625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NPHS2:NM_001297575:exon1:c.A102G:p.G34G,NPHS2:NM_014625:exon1:c.A102G:p.G34G;Gencode=Name\x3eENST00000367616.4,ENST00000367615.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1079292;cosmic70=.;CLNALLELEID=249559;CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9812;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.992;1000g2015aug_afr=0.823;1000g2015aug_amr=0.9683;1000g2015aug_all=0.930911;esp6500siv2_all=0.9663;ExAC_ALL=0.9616;ExAC_AFR=0.8323;ExAC_AMR=0.9797;ExAC_EAS=0.9812;ExAC_FIN=0.9545;ExAC_NFE=0.9923;ExAC_OTH=0.9741;ExAC_SAS=0.9504;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:762,60,0 1 179545050 rs12406197 C A 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPHS2;Func=UTR5;Gene=NM_001297575,NM_014625;GeneDetail=NM_001297575:c.-51G>T\x3bNM_014625:c.-51G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367615.8,ENST00000367616.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12406197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.119;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.2795;1000g2015aug_all=0.183307;esp6500siv2_all=0.1931;ExAC_ALL=0.3654;ExAC_AFR=0.2195;ExAC_AMR=0.4650;ExAC_EAS=0.1464;ExAC_FIN=0.5174;ExAC_NFE=0.3968;ExAC_OTH=0.2963;ExAC_SAS=0.3129;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 179556174 rs12121642 T C 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.485;DP=37;ExcessHet=3.0103;FS=1.364;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.47;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297575,NM_173533;GeneDetail=dist\x3e11087\x3bdist\x3e4574;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.1354;1000g2015aug_all=0.141174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,22:37:99:602,0,481 1 179556306 rs3926126 T C 2325.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297575,NM_173533;GeneDetail=dist\x3e11219\x3bdist\x3e4442;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3926126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=1;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2354,207,0 1 179556848 rs7549026 T A 271.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.205;DP=19;ExcessHet=3.0103;FS=4.534;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.248;SOR=0.435;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297575,NM_173533;GeneDetail=dist\x3e11761\x3bdist\x3e3900;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.1354;1000g2015aug_all=0.141174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:300,0,243 1 179557018 rs771981499 G A 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.787;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.083;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001297575,NM_173533;GeneDetail=dist\x3e11931\x3bdist\x3e3730;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs771981499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:392,0,374 1 179561645 rs4652418 A C 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-0.366;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=UTR5;Gene=NM_001199091;GeneDetail=NM_001199091:c.-106A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000294848.12,ENST00000444136.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.8372;1000g2015aug_all=0.779153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 179561683 rs4652419 A T 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.013;DP=20;ExcessHet=3.0103;FS=2.865;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.483;SOR=2.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=UTR5;Gene=NM_001199091;GeneDetail=NM_001199091:c.-68A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000294848.12,ENST00000444136.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.7455;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.8329;1000g2015aug_all=0.77476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:167,0,394 1 179562143 rs4652420 G A 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.444;DP=35;ExcessHet=3.0103;FS=3.225;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.232;SOR=1.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000444136.5,ENST00000294848.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.7968;1000g2015aug_all=0.735623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,16:35:99:423,0,449 1 179562520 rs78183476 A G 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.908;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000444136.5,ENST00000294848.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78183476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0865;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0255591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,258 1 179562740 rs61310274 G C 1228.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.697;DP=97;ExcessHet=3.0103;FS=1.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.276;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=exonic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TDRD5:NM_001199085:exon3:c.G378C:p.R126S,TDRD5:NM_001199089:exon3:c.G378C:p.R126S,TDRD5:NM_001199091:exon3:c.G378C:p.R126S,TDRD5:NM_001349923:exon3:c.G378C:p.R126S,TDRD5:NM_173533:exon3:c.G378C:p.R126S;Gencode=Name\x3eENST00000367614.5,ENST00000294848.12,ENST00000444136.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61310274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.371;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.0877;1000g2015aug_amr=0.4092;1000g2015aug_all=0.307708;esp6500siv2_all=0.2908;ExAC_ALL=0.3464;ExAC_AFR=0.1277;ExAC_AMR=0.4662;ExAC_EAS=0.3796;ExAC_FIN=0.3503;ExAC_NFE=0.3542;ExAC_OTH=0.3568;ExAC_SAS=0.3489;SIFT_score=0.067;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.301;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=2.64;FATHMM_pred=T;phyloP100way_vertebrate=0.883;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=7.134;gerp++gt2=2.58;CADD=4.176;CADD_Phred=23.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,51:97:99:1257,0,1323 1 179590352 rs61826406 C T 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.861;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.271;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444136.5,ENST00000294848.12,ENST00000367614.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61826406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.098;1000g2015aug_all=0.101637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:285,0,292 1 179604864 rs4628468 C T 306.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.134;DP=24;ExcessHet=3.0103;FS=3.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.522;SOR=0.529;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=exonic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TDRD5:NM_001199092:exon6:c.C27T:p.D9D,TDRD5:NM_001199085:exon9:c.C1362T:p.D454D,TDRD5:NM_001199089:exon9:c.C1362T:p.D454D,TDRD5:NM_001199091:exon9:c.C1362T:p.D454D,TDRD5:NM_001349923:exon9:c.C1362T:p.D454D,TDRD5:NM_173533:exon9:c.C1362T:p.D454D;Gencode=Name\x3eENST00000294848.12,ENST00000444136.5,ENST00000367614.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4628468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9048;1000g2015aug_sas=0.7679;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.8631;1000g2015aug_all=0.796925;esp6500siv2_all=0.7464;ExAC_ALL=0.7652;ExAC_AFR=0.7202;ExAC_AMR=0.8830;ExAC_EAS=0.8932;ExAC_FIN=0.7020;ExAC_NFE=0.7432;ExAC_OTH=0.7577;ExAC_SAS=0.7589;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:335,0,273 1 179620253 rs6682666 G A 1202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.1;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.68;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000294848.12,ENST00000444136.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.4294;1000g2015aug_all=0.349042;esp6500siv2_all=0.3352;ExAC_ALL=0.3660;ExAC_AFR=0.2476;ExAC_AMR=0.4656;ExAC_EAS=0.3769;ExAC_FIN=0.3636;ExAC_NFE=0.3665;ExAC_OTH=0.3691;ExAC_SAS=0.3608;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,45:88:99:1231,0,1179 1 179631242 rs35448215 G A 1018.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.275;DP=89;ExcessHet=3.0103;FS=2.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.817;SOR=1.031;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=exonic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TDRD5:NM_001199092:exon11:c.G829A:p.E277K,TDRD5:NM_001199091:exon14:c.G2164A:p.E722K,TDRD5:NM_001349923:exon14:c.G2164A:p.E722K,TDRD5:NM_173533:exon14:c.G2164A:p.E722K,TDRD5:NM_001199085:exon15:c.G2326A:p.E776K,TDRD5:NM_001199089:exon15:c.G2326A:p.E776K;Gencode=Name\x3eENST00000367614.5,ENST00000444136.5,ENST00000294848.12;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35448215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0456;1000g2015aug_sas=0.1697;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.098;1000g2015aug_all=0.101837;esp6500siv2_all=0.1710;ExAC_ALL=0.1981;ExAC_AFR=0.0435;ExAC_AMR=0.1004;ExAC_EAS=0.0380;ExAC_FIN=0.2930;ExAC_NFE=0.2487;ExAC_OTH=0.2122;ExAC_SAS=0.2068;SIFT_score=0.026;SIFT_pred=D;Polyphen2_HDIV_score=0.374;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.094;Polyphen2_HVAR_pred=B;LRT_score=0.141;LRT_pred=N;MutationTaster_score=0.971;MutationTaster_pred=P;MutationAssessor_score=2.005;MutationAssessor_pred=M;FATHMM_score=2.22;FATHMM_pred=T;phyloP100way_vertebrate=2.586;phyloP20way_mammalian=1.040;SiPhy_29way_logOdds=9.396;gerp++gt2=4.49;CADD=3.683;CADD_Phred=23.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,38:88:99:1047,0,1337 1 179632347 rs7547484 A C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367614.5,ENST00000294848.12,ENST00000444136.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.4294;1000g2015aug_all=0.35603;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 179632727 rs7513095 G A 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.693;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444136.5,ENST00000294848.12,ENST00000367614.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e237\x3bName\x3e"317241:L1M1(LINE)";avsnp150=rs7513095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.4784;1000g2015aug_all=0.445288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:134,0,221 1 179645392 rs4347175 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTDRD5;Func=intronic;Gene=NM_001199085,NM_001199089,NM_001199091,NM_001199092,NM_001349923,NM_173533;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294848.12,ENST00000444136.5,ENST00000367614.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21323\x3bName\x3e"317261:L1PB1(LINE)";avsnp150=rs4347175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9924;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 179727752 rs2487742 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM163A;Func=intronic;Gene=NM_001329712,NM_001329713,NM_001329714,NM_001329715,NM_001329716,NM_001329717,NM_001329718,NM_001329719,NM_173509;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341785.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2487742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.8876;1000g2015aug_all=0.914736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 179733756 rs12723969 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM163A;Func=intronic;Gene=NM_001329712,NM_001329713,NM_001329714,NM_001329715,NM_001329716,NM_001329717,NM_001329718,NM_001329719,NM_173509;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341785.4;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e406\x3bName\x3e"317408:MER81(DNA)";avsnp150=rs12723969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.1167;1000g2015aug_all=0.14377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 179816017 rs79921581 C G 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.017;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-1.421;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP2;Func=intronic;Gene=NM_001199260,NM_001349934,NM_001349935,NM_001349936,NM_001349937,NM_145034;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609928.5,ENST00000367612.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79921581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.085;1000g2015aug_all=0.0760783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,15:23:99:423,0,231 1 179834060 rs189835019 T C 1097.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.456;DP=86;ExcessHet=3.0103;FS=1.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.048;SOR=0.96;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP2;Func=exonic;Gene=NM_001349931,NM_001349933,NM_022347;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TOR1AIP2:NM_001349931:exon2:c.A252G:p.K84K,TOR1AIP2:NM_001349933:exon2:c.A252G:p.K84K,TOR1AIP2:NM_022347:exon3:c.A252G:p.K84K;Gencode=Name\x3eENST00000367612.7,ENST00000609928.5,ENST00000482587.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs189835019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.004;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0057;ExAC_ALL=0.0053;ExAC_AFR=0.0013;ExAC_AMR=0.0047;ExAC_EAS=0;ExAC_FIN=0.0024;ExAC_NFE=0.0082;ExAC_OTH=0.0056;ExAC_SAS=0.0006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,47:86:99:1126,0,984 1 179852074 rs1281378 T C 1519.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.141;DP=141;ExcessHet=3.0103;FS=3.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.386;SOR=1.018;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=exonic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TOR1AIP1:NM_001267578:exon1:c.T437C:p.M146T,TOR1AIP1:NM_015602:exon1:c.T437C:p.M146T;Gencode=Name\x3eENST00000435319.8,ENST00000606911.6,ENST00000271583.7,ENST00000528443.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1281378;cosmic70=.;CLNALLELEID=249561;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.6758;1000g2015aug_all=0.608826;esp6500siv2_all=0.5692;ExAC_ALL=0.6503;ExAC_AFR=0.4441;ExAC_AMR=0.7847;ExAC_EAS=0.7640;ExAC_FIN=0.5679;ExAC_NFE=0.6437;ExAC_OTH=0.5943;ExAC_SAS=0.6743;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.441;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.325;MutationAssessor_pred=N;FATHMM_score=2.05;FATHMM_pred=T;phyloP100way_vertebrate=0.476;phyloP20way_mammalian=0.010;SiPhy_29way_logOdds=3.635;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,57:140:99:1548,0,2256 1 179852159 rs78856676 G C 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.293;DP=62;ExcessHet=3.0103;FS=1.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=0.739;SOR=0.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=intronic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271583.7,ENST00000528443.6,ENST00000606911.6,ENST00000435319.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78856676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.1138;1000g2015aug_all=0.141573;esp6500siv2_all=.;ExAC_ALL=0.1771;ExAC_AFR=0.3320;ExAC_AMR=0.1693;ExAC_EAS=0.2339;ExAC_FIN=0.2465;ExAC_NFE=0.1859;ExAC_OTH=0.1693;ExAC_SAS=0.1020;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,35:62:99:1389,0,1019 1 179852160 rs76860548 C T 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.699;DP=62;ExcessHet=3.0103;FS=1.116;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=0.228;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=intronic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000528443.6,ENST00000271583.7,ENST00000606911.6,ENST00000435319.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76860548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.1138;1000g2015aug_all=0.141773;esp6500siv2_all=.;ExAC_ALL=0.1749;ExAC_AFR=0.3274;ExAC_AMR=0.1676;ExAC_EAS=0.2325;ExAC_FIN=0.2432;ExAC_NFE=0.1833;ExAC_OTH=0.1719;ExAC_SAS=0.1019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,36:62:99:1389,0,1019 1 179852552 rs605807 T G 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.413;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=intronic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435319.8,ENST00000606911.6,ENST00000528443.6,ENST00000271583.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs605807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.6758;1000g2015aug_all=0.608626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:253,0,211 1 179854026 rs10913901 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=intronic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435319.8,ENST00000606911.6,ENST00000271583.7,ENST00000528443.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10913901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.33;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.2594;1000g2015aug_all=0.278954;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 179858333 rs1300068 C T 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.389;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=intronic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000606911.6,ENST00000528443.6,ENST00000271583.7,ENST00000435319.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1300068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.6772;1000g2015aug_all=0.605232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 179858444 rs2245425 G A 324.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.722;DP=34;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.766;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=splicing;Gene=NM_001267578;GeneDetail=NM_001267578:exon3:c.554-1G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435319.8,ENST00000271583.7,ENST00000528443.6,ENST00000606911.6;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2245425;cosmic70=.;CLNALLELEID=249563;CLNDN=Muscular_dystrophy,_limb-girdle,_type_2y|not_specified;CLNDISDB=MedGen:C4310731,OMIM:617072,Orphanet:ORPHA424261|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.6916;1000g2015aug_all=0.635383;esp6500siv2_all=0.5831;ExAC_ALL=0.6466;ExAC_AFR=0.4951;ExAC_AMR=0.7811;ExAC_EAS=0.7603;ExAC_FIN=0.5516;ExAC_NFE=0.6317;ExAC_OTH=0.6093;ExAC_SAS=0.6884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=4.241;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=14.730;gerp++gt2=5.26;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:353,0,465 1 179887125 rs627897 G A 2071.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOR1AIP1;Func=exonic;Gene=NM_001267578,NM_015602;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TOR1AIP1:NM_001267578:exon10:c.G1506A:p.A502A,TOR1AIP1:NM_015602:exon10:c.G1503A:p.A501A;Gencode=Name\x3eENST00000271583.7,ENST00000528443.6,ENST00000606911.6,ENST00000435319.8;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs627897;cosmic70=.;CLNALLELEID=249568;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9147;1000g2015aug_sas=0.9642;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.951;1000g2015aug_all=0.91853;esp6500siv2_all=0.9275;ExAC_ALL=0.9485;ExAC_AFR=0.8754;ExAC_AMR=0.9649;ExAC_EAS=0.9008;ExAC_FIN=0.9791;ExAC_NFE=0.9579;ExAC_OTH=0.9427;ExAC_SAS=0.9580;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:2100,174,0 1 179902837 rs500371 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015602,NM_014810;GeneDetail=dist\x3e13625\x3bdist\x3e21071;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000567486.2;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1979\x3bName\x3e"317734:MLT2B3(LTR)";avsnp150=rs500371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.6521;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.7378;1000g2015aug_all=0.565096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 179938305 rs539324 G C 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.803;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=1.026;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs539324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.9207;1000g2015aug_all=0.846246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:69:186,0,69 1 179983665 rs2501607 G A 601.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.851;DP=38;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=0.553;SOR=0.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.2481;1000g2015aug_amr=0.7349;1000g2015aug_all=0.564696;esp6500siv2_all=0.5416;ExAC_ALL=0.6586;ExAC_AFR=0.3558;ExAC_AMR=0.8242;ExAC_EAS=0.7142;ExAC_FIN=0.6710;ExAC_NFE=0.6681;ExAC_OTH=0.6298;ExAC_SAS=0.6640;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,23:38:99:630,0,410 1 179989742 rs2477120 G C 1051.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.837;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.064;SOR=0.74;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=exonic;Gene=NM_014810;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CEP350:NM_014810:exon12:c.G2833C:p.E945Q;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.7349;1000g2015aug_all=0.564297;esp6500siv2_all=0.5381;ExAC_ALL=0.6407;ExAC_AFR=0.3212;ExAC_AMR=0.8160;ExAC_EAS=0.7065;ExAC_FIN=0.6590;ExAC_NFE=0.6531;ExAC_OTH=0.6018;ExAC_SAS=0.6286;SIFT_score=0.272;SIFT_pred=T;Polyphen2_HDIV_score=0.963;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.543;Polyphen2_HVAR_pred=P;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.661;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=3.08;FATHMM_pred=T;phyloP100way_vertebrate=4.398;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=20.136;gerp++gt2=6.02;CADD=3.040;CADD_Phred=22.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,41:103:99:1080,0,1893 1 179991688 rs2477116 A T 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.549;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.188;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.7334;1000g2015aug_all=0.564696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:173,0,244 1 179992076 rs2477117 A G 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.271;SOR=0.34;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.832;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.9035;1000g2015aug_all=0.801518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:202,0,369 1 179993793 rs4622030 T C 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.435;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4622030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.9222;1000g2015aug_all=0.849241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,323 1 180010702 rs4652461 T C 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.041;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652461;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.832;1000g2015aug_afr=0.677;1000g2015aug_amr=0.9035;1000g2015aug_all=0.80012;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:326,0,318 1 180022343 rs9425854 T G 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.788;DP=48;ExcessHet=3.0103;FS=6.254;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=1.924;SOR=1.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9425854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.7349;1000g2015aug_all=0.566094;esp6500siv2_all=0.5393;ExAC_ALL=0.6492;ExAC_AFR=0.3500;ExAC_AMR=0.8276;ExAC_EAS=0.7233;ExAC_FIN=0.6730;ExAC_NFE=0.6678;ExAC_OTH=0.6210;ExAC_SAS=0.6549;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,21:48:99:529,0,662 1 180022760 rs2040083 A T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2040083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 180059811 rs10798729 A C 516.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.282;DP=49;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-2.689;SOR=1.306;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.7349;1000g2015aug_all=0.566294;esp6500siv2_all=0.5629;ExAC_ALL=0.6109;ExAC_AFR=0.3542;ExAC_AMR=0.7005;ExAC_EAS=0.7129;ExAC_FIN=0.6745;ExAC_NFE=0.6441;ExAC_OTH=0.6025;ExAC_SAS=0.6274;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,21:49:99:545,0,684 1 180080115 rs3767202 T G 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.533;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.259;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=intronic;Gene=NM_014810;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7083;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.7248;1000g2015aug_all=0.551518;esp6500siv2_all=0.5231;ExAC_ALL=0.6370;ExAC_AFR=0.2783;ExAC_AMR=0.8141;ExAC_EAS=0.7090;ExAC_FIN=0.6590;ExAC_NFE=0.6531;ExAC_OTH=0.6026;ExAC_SAS=0.6292;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,29:43:99:809,0,341 1 180080629 rs79555092 C T 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.992;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCEP350;Func=UTR3;Gene=NM_014810;GeneDetail=NM_014810:c.*333C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367607.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79555092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:151,0,101 1 180097705 rs4652467 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014810,NM_002826;GeneDetail=dist\x3e13690\x3bdist\x3e26263;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1638\x3bName\x3e"318163:MER115(DNA)";avsnp150=rs4652467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9652;1000g2015aug_amr=0.9957;1000g2015aug_all=0.990216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 180097707 rs4652468 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014810,NM_002826;GeneDetail=dist\x3e13692\x3bdist\x3e26261;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1638\x3bName\x3e"318163:MER115(DNA)";avsnp150=rs4652468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.8732;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.9236;1000g2015aug_all=0.858027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 180097729 rs4652469 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014810,NM_002826;GeneDetail=dist\x3e13714\x3bdist\x3e26239;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1638\x3bName\x3e"318163:MER115(DNA)";avsnp150=rs4652469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.705;1000g2015aug_amr=0.9251;1000g2015aug_all=0.860423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180113078 rs4652477 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014810,NM_002826;GeneDetail=dist\x3e29063\x3bdist\x3e10890;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2054\x3bName\x3e"318207:AluJo(SINE)";avsnp150=rs4652477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.9395;1000g2015aug_all=0.908946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180124379 rs35481032 T C 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.497;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.967;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=intronic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367600.5,ENST00000367602.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35481032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3433;1000g2015aug_sas=0.408;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.8116;1000g2015aug_amr=0.3573;1000g2015aug_all=0.486222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,116 1 180145088 rs2298206 A G 3944.77 PASS AC=2;AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=exonic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=QSOX1:NM_001004128:exon4:c.A435G:p.T145T,QSOX1:NM_002826:exon4:c.A435G:p.T145T;Gencode=Name\x3eENST00000367600.5,ENST00000367602.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.9669;1000g2015aug_all=0.885583;esp6500siv2_all=0.9173;ExAC_ALL=0.9278;ExAC_AFR=0.8348;ExAC_AMR=0.9574;ExAC_EAS=0.8133;ExAC_FIN=0.9606;ExAC_NFE=0.9537;ExAC_OTH=0.9286;ExAC_SAS=0.9161;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3973,354,0 1 180151666 rs2242110 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=intronic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367600.5,ENST00000367602.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.5041;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.6585;1000g2015aug_all=0.461462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 180151709 rs61809061 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=intronic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367600.5,ENST00000367602.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61809061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0267572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180155376 rs2298207 C G 456.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.22;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=intronic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367602.7,ENST00000367600.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5139;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.7608;1000g2015aug_all=0.671326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:36:485,36,0 1 180164136 rs10798740 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eQSOX1;Func=intronic;Gene=NM_001004128,NM_002826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367602.7,ENST00000367600.5;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.2995;1000g2015aug_amr=0.6888;1000g2015aug_all=0.517572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180167774 rs17299812 C T 235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.341;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.204;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLJ23867;Func=ncRNA_exonic;Gene=NR_026900;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367602.7;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17299812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0045;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0277556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:264,0,274 1 180173484 rs3845393 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026900,NM_033343;GeneDetail=dist\x3e3625\x3bdist\x3e25949;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1126\x3bName\x3e"318298:MLT1G1(LTR)";avsnp150=rs3845393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7897;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.8775;1000g2015aug_all=0.796925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180180439 rs355609 G C 355.77 PASS AC=1;AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.58;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026900,NM_033343;GeneDetail=dist\x3e10580\x3bdist\x3e18994;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs355609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.6671;1000g2015aug_all=0.458466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,4:10:99:384,230,220 1 180180439 rs355609 G T 355.77 PASS AC=1;AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.58;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026900,NM_033343;GeneDetail=dist\x3e10580\x3bdist\x3e18994;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs355609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.0908;1000g2015aug_all=0.201078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,6:10:99:384,155,137 1 180180669 rs164980 A G 1022.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.681;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026900,NM_033343;GeneDetail=dist\x3e10810\x3bdist\x3e18764;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs164980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.8501;1000g2015aug_all=0.779553;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1051,96,0 1 180180756 rs355610 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.48;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.48;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026900,NM_033343;GeneDetail=dist\x3e10897\x3bdist\x3e18677;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"318323:L2c(LINE)";avsnp150=rs355610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.3401;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:66:66,0,190 1 180217136 rs57664116 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.842;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"318381:MER91A(DNA)";avsnp150=rs57664116;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.0965;1000g2015aug_all=0.163538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 180217152 rs61809133 C T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.887;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.414;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"318381:MER91A(DNA)";avsnp150=rs61809133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.1037;1000g2015aug_all=0.179313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:185,0,89 1 180217192 rs61809134 C A 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.308;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.138;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"318381:MER91A(DNA)";avsnp150=rs61809134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.0965;1000g2015aug_all=0.163538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:253,0,143 1 180217250 rs4652490 C T 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.278;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.746;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"318381:MER91A(DNA)";avsnp150=rs4652490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.2035;1000g2015aug_amr=0.0965;1000g2015aug_all=0.163538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:269,0,486 1 180217791 rs3911334 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3911334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.0941;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.0965;1000g2015aug_all=0.163339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180219830 rs12407014 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.3991;1000g2015aug_all=0.409345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180219887 rs7539240 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7539240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.3991;1000g2015aug_all=0.409545;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180219900 rs7539244 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4;Func=intronic;Gene=NM_033343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7539244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.3991;1000g2015aug_all=0.409145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180240752 rs3845397 C T 572.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.187;DP=47;ExcessHet=3.0103;FS=2.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.386;SOR=1.246;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4-AS1,LHX4;Func=ncRNA_exonic;Gene=NR_037642;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3845397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.3112;1000g2015aug_all=0.40635;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,21:47:99:601,0,877 1 180243524 rs7536561 A G 1692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.223;DP=143;ExcessHet=3.0103;FS=4.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.207;SOR=0.415;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX4,LHX4-AS1;Func=exonic;Gene=NM_033343;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LHX4:NM_033343:exon6:c.A983G:p.N328S;Gencode=Name\x3eENST00000263726.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536561;cosmic70=.;CLNALLELEID=249572;CLNDN=Pituitary_hormone_deficiency,_combined_4|not_specified|Combined_Pituitary_Hormone_Deficiency,_Dominant;CLNDISDB=MedGen:C2678408,OMIM:262700,Orphanet:ORPHA85442|MedGen:CN169374|MedGen:CN239342;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.3256;1000g2015aug_all=0.426318;esp6500siv2_all=0.4107;ExAC_ALL=0.4850;ExAC_AFR=0.1875;ExAC_AMR=0.2390;ExAC_EAS=0.5837;ExAC_FIN=0.5661;ExAC_NFE=0.5253;ExAC_OTH=0.4890;ExAC_SAS=0.5981;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=-0.03;MutationAssessor_pred=N;FATHMM_score=-2.24;FATHMM_pred=D;phyloP100way_vertebrate=2.525;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=6.920;gerp++gt2=3.27;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,64:143:99:1721,0,2344 1 180257692 rs2254465 A C 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.762;DP=29;ExcessHet=3.0103;FS=1.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.961;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9018;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.9582;1000g2015aug_all=0.951877;esp6500siv2_all=0.9477;ExAC_ALL=0.9456;ExAC_AFR=0.9648;ExAC_AMR=0.9738;ExAC_EAS=0.9846;ExAC_FIN=0.9505;ExAC_NFE=0.9432;ExAC_OTH=0.9404;ExAC_SAS=0.9097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:400,0,471 1 180327586 rs75568858 A C 63.56 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2423\x3bName\x3e"318566:AluSg(SINE)";avsnp150=rs75568858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.9654;1000g2015aug_all=0.959864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 180332740 rs1418100 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.9334;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9697;1000g2015aug_all=0.965455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180332821 rs1418101 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e39\x3bName\x3e"318573:(AGCAGG)n(Simple_repeat)";avsnp150=rs1418101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9314;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.938;1000g2015aug_all=0.877995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 180382245 rs58369506 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58369506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.1326;1000g2015aug_all=0.110423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 180404453 rs6684842 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.926249\x3bName\x3echrX:49631629;Repeat=Score\x3e2386\x3bName\x3e"318692:AluY(SINE)";avsnp150=rs6684842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.9702;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9784;1000g2015aug_all=0.975639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 180413009 rs6682811 T C 105.03 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2361\x3bName\x3e"318714:AluY(SINE)";avsnp150=rs6682811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.9702;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9769;1000g2015aug_all=0.97524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 180413124 rs6680368 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e411\x3bName\x3e"318715:L1MEc(LINE)";avsnp150=rs6680368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6141;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.7666;1000g2015aug_all=0.770966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180471054 rs12723183 C A 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.426;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.126;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD6;Func=intronic;Gene=NM_032360;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367595.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"318825:(A)n(Simple_repeat)";avsnp150=rs12723183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1052;1000g2015aug_all=0.127196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:175,0,196 1 180475368 rs1556935 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032360,NR_125716;GeneDetail=dist\x3e3346\x3bdist\x3e52741;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1332\x3bName\x3e"318837:MER90a(LTR)";avsnp150=rs1556935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.9305;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9712;1000g2015aug_all=0.965655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180477900 rs6687549 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032360,NR_125716;GeneDetail=dist\x3e5878\x3bdist\x3e50209;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8102\x3bName\x3e"318842:LTR12C(LTR)";avsnp150=rs6687549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.33;1000g2015aug_all=0.293331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180495003 rs10753217 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032360,NR_125716;GeneDetail=dist\x3e22980\x3bdist\x3e33107;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e571\x3bName\x3e"318876:LTR85c(LTR)";avsnp150=rs10753217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9871;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.7791;1000g2015aug_amr=0.8285;1000g2015aug_all=0.837061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180552260 rs10737346 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125716,NM_004736;GeneDetail=dist\x3e16606\x3bdist\x3e48886;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1979\x3bName\x3e"319004:MSTD(LTR)";avsnp150=rs10737346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9394;1000g2015aug_afr=0.8192;1000g2015aug_amr=0.9207;1000g2015aug_all=0.868011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 180689809 rs6699726 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXPR1;Func=intronic;Gene=NM_001135669,NM_001328662,NM_004736;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367590.8,ENST00000367589.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e992\x3bName\x3e"319299:MER5A(DNA)";avsnp150=rs6699726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.3545;1000g2015aug_all=0.34405;esp6500siv2_all=0.3938;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 180757056 rs3761904 A G 875.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXPR1;Func=intronic;Gene=NM_001135669,NM_001328662,NM_004736;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367590.8,ENST00000367589.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.3069;1000g2015aug_all=0.267372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:904,84,0 1 180803922 rs2271669 T C 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eXPR1;Func=intronic;Gene=NM_001135669,NM_001328662,NM_004736;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367590.8,ENST00000367589.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.3271;1000g2015aug_all=0.292532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 180885430 rs10732273 T C 7930.77 PASS AC=2;AF=1;AN=2;DP=243;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=0.769;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1614:NM_020950:exon2:c.T191C:p.L64P;Gencode=Name\x3eENST00000367588.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10732273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9773;1000g2015aug_amr=1;1000g2015aug_all=0.99401;esp6500siv2_all=0.9960;ExAC_ALL=0.9984;ExAC_AFR=0.9857;ExAC_AMR=0.9991;ExAC_EAS=1;ExAC_FIN=0.9998;ExAC_NFE=0.9995;ExAC_OTH=0.9978;ExAC_SAS=0.9992;SIFT_score=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.625;MutationAssessor_pred=N;FATHMM_score=3.35;FATHMM_pred=T;phyloP100way_vertebrate=-0.943;phyloP20way_mammalian=-0.747;SiPhy_29way_logOdds=1.857;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,243:243:99:7959,729,0 1 180886810 rs3761905 C G 783.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=2.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=intronic;Gene=NM_020950;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367588.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.2927;1000g2015aug_amr=0.4366;1000g2015aug_all=0.417133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:812,69,0 1 180897521 rs7544551 C T 1675.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=intronic;Gene=NM_020950;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7544551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.739;1000g2015aug_amr=0.9582;1000g2015aug_all=0.92472;esp6500siv2_all=0.9266;ExAC_ALL=0.9768;ExAC_AFR=0.7573;ExAC_AMR=0.9828;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9990;ExAC_OTH=0.9805;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1704,156,0 1 180897569 rs3747958 C T 762.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.661;DP=64;ExcessHet=3.0103;FS=3.371;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.433;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1614:NM_020950:exon4:c.C1065T:p.T355T;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.4063;1000g2015aug_all=0.389976;esp6500siv2_all=0.3672;ExAC_ALL=0.4171;ExAC_AFR=0.2980;ExAC_AMR=0.3992;ExAC_EAS=0.5652;ExAC_FIN=0.4560;ExAC_NFE=0.4250;ExAC_OTH=0.4444;ExAC_SAS=0.3715;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:791,0,876 1 180905352 rs3795505 C T 2467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.52;DP=201;ExcessHet=3.0103;FS=1.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.037;SOR=0.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1614:NM_020950:exon5:c.C2307T:p.S769S;Gencode=Name\x3eENST00000367587.1,ENST00000367588.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.4006;1000g2015aug_all=0.332468;esp6500siv2_all=0.3380;ExAC_ALL=0.3930;ExAC_AFR=0.1912;ExAC_AMR=0.3870;ExAC_EAS=0.2657;ExAC_FIN=0.3893;ExAC_NFE=0.4146;ExAC_OTH=0.3764;ExAC_SAS=0.4981;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,93:200:99:2496,0,3038 1 180905448 rs3795504 G T 2898.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.743;DP=230;ExcessHet=3.0103;FS=2.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.499;SOR=0.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1614:NM_020950:exon5:c.G2403T:p.L801F;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.428;1000g2015aug_all=0.403554;esp6500siv2_all=0.4174;ExAC_ALL=0.4349;ExAC_AFR=0.3806;ExAC_AMR=0.4149;ExAC_EAS=0.2795;ExAC_FIN=0.4116;ExAC_NFE=0.4461;ExAC_OTH=0.4120;ExAC_SAS=0.5271;SIFT_score=0.264;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.897;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.425;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=0.028;phyloP20way_mammalian=-1.222;SiPhy_29way_logOdds=4.419;gerp++gt2=2.38;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:115,115:230:99:2927,0,3009 1 180905694 rs3795503 C T 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.813;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.457;SOR=0.639;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIAA1614:NM_020950:exon5:c.C2649T:p.N883N;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.495;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2738;1000g2015aug_all=0.288738;esp6500siv2_all=0.2586;ExAC_ALL=0.3115;ExAC_AFR=0.1711;ExAC_AMR=0.2675;ExAC_EAS=0.4746;ExAC_FIN=0.3859;ExAC_NFE=0.3199;ExAC_OTH=0.3275;ExAC_SAS=0.2733;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,35:75:99:969,0,1227 1 180913597 rs2331995 A G 3443.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=0.83;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=exonic;Gene=NM_020950;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIAA1614:NM_020950:exon8:c.A3232G:p.N1078D;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1,ENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2331995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=0.9962;ExAC_ALL=0.9988;ExAC_AFR=0.9856;ExAC_AMR=0.9995;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.241;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.33;MutationAssessor_pred=N;FATHMM_score=2.89;FATHMM_pred=T;phyloP100way_vertebrate=2.378;phyloP20way_mammalian=0.104;SiPhy_29way_logOdds=9.512;gerp++gt2=4.94;CADD=1.019;CADD_Phred=10.77;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,107:107:99:3472,321,0 1 180913799 rs149403577 G T 353.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.277;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-1.607;SOR=0.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=intronic;Gene=NM_020950;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367587.1,ENST00000367588.8,ENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs149403577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:382,0,200 1 180913874 rs944234 C T 304.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.89;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=intronic;Gene=NM_020950;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367587.1,ENST00000367588.8,ENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs944234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:333,24,0 1 180914304 rs944235 C T 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=intronic;Gene=NM_020950;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1,ENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs944235;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.9942;1000g2015aug_all=0.977436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 180914966 rs12023606 C T 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1614;Func=UTR3;Gene=NM_020950;GeneDetail=NM_020950:c.*242C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367588.8,ENST00000367587.1,ENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2367\x3bName\x3e"319731:AluSq2(SINE)";avsnp150=rs12023606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.0197;1000g2015aug_amr=0.317;1000g2015aug_all=0.154153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:62,0,33 1 180919255 rs2297185 C T 124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.566;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_exonic;Gene=NR_145481;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2,ENST00000415647.1,ENST00000367588.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.317;1000g2015aug_all=0.178714;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:97:153,0,97 1 180932973 rs10914143 G A 96.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145481,NM_005819;GeneDetail=dist\x3e8950\x3bdist\x3e8876;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10914143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.4319;1000g2015aug_amr=0.6974;1000g2015aug_all=0.627396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:125,15,0 1 180933498 rs4652543 C T 578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.922;DP=56;ExcessHet=3.0103;FS=4.816;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.931;SOR=1.617;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145481,NM_005819;GeneDetail=dist\x3e9475\x3bdist\x3e8351;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.917448\x3bName\x3echr1:181048638;Repeat=.;avsnp150=rs4652543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.6677;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.5173;1000g2015aug_all=0.520567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,21:56:99:607,0,959 1 180934047 rs12022368 T C 547.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.39;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145481,NM_005819;GeneDetail=dist\x3e10024\x3bdist\x3e7802;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.917448\x3bName\x3echr1:181048638;Repeat=.;avsnp150=rs12022368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.6619;1000g2015aug_amr=0.7291;1000g2015aug_all=0.699281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:576,45,0 1 180934977 rs4652544 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.225;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.098;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145481,NM_005819;GeneDetail=dist\x3e10954\x3bdist\x3e6872;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.917448\x3bName\x3echr1:181048638;Repeat=.;avsnp150=rs4652544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.8994;1000g2015aug_amr=0.804;1000g2015aug_all=0.861422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:252,0,173 1 180938639 rs944231 A G 57.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145481,NM_005819;GeneDetail=dist\x3e14616\x3bdist\x3e3210;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358073.2;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.931929\x3bName\x3echr1:181060227;Repeat=.;avsnp150=rs944231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.6702;1000g2015aug_amr=0.7349;1000g2015aug_all=0.70607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:85,6,0 1 180953853 rs3747957 A G 2361.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=exonic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=STX6:NM_001286210:exon5:c.T348C:p.N116N,STX6:NM_005819:exon7:c.T651C:p.N217N;Gencode=Name\x3eENST00000258301.5,ENST00000542060.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.6282;1000g2015aug_all=0.524361;esp6500siv2_all=0.5526;ExAC_ALL=0.5745;ExAC_AFR=0.4764;ExAC_AMR=0.6745;ExAC_EAS=0.6183;ExAC_FIN=0.6696;ExAC_NFE=0.5910;ExAC_OTH=0.5661;ExAC_SAS=0.4383;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2390,228,0 1 180954089 rs4652547 A G 512.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=intronic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542060.5,ENST00000258301.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e675\x3bName\x3e"319779:MER46C(DNA)";avsnp150=rs4652547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.6282;1000g2015aug_all=0.524561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:541,42,0 1 180954130 rs4652548 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=intronic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542060.5,ENST00000258301.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e675\x3bName\x3e"319779:MER46C(DNA)";avsnp150=rs4652548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.6282;1000g2015aug_all=0.524561;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 180957130 rs7528255 C A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.95;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=intronic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258301.5,ENST00000542060.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6915;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.761;1000g2015aug_amr=0.7161;1000g2015aug_all=0.673922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 180962282 rs1411478 A G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.41;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=intronic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258301.5,ENST00000542060.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1411478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eProgressive_supranuclear_palsy;1000g2015aug_eas=0.631;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.6282;1000g2015aug_all=0.526358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 180991665 rs12565758 C G 1187.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=1.552;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSTX6;Func=intronic;Gene=NM_001286210,NM_005819;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542060.5,ENST00000258301.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12565758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.3419;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.3732;1000g2015aug_all=0.267173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1216,117,0 1 181021857 rs3845423 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMR1;Func=intronic;Gene=NM_001194999,NM_001195000,NM_001195035,NM_001310213,NM_001531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617803.4,ENST00000614012.4,ENST00000367580.5,ENST00000282990.10,ENST00000434571.6,ENST00000367579.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e755\x3bName\x3e"319920:Charlie1a(DNA)";avsnp150=rs3845423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.6558;1000g2015aug_amr=0.5173;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 181022895 rs2275469 C A 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.23;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.71;ReadPosRankSum=-0.875;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMR1;Func=intronic;Gene=NM_001194999,NM_001195000,NM_001195035,NM_001310213,NM_001531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617803.4,ENST00000614012.4,ENST00000367580.5,ENST00000282990.10,ENST00000434571.6,ENST00000367579.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.5123;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.5173;1000g2015aug_all=0.559704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:51:311,0,51 1 181022907 rs187522902 G A 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.35;ReadPosRankSum=-0.992;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMR1;Func=intronic;Gene=NM_001194999,NM_001195000,NM_001195035,NM_001310213,NM_001531;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614012.4,ENST00000617803.4,ENST00000282990.10,ENST00000367580.5,ENST00000367579.7,ENST00000434571.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs187522902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00339457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:215,0,59 1 181024404 rs3747956 G A 729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.132;DP=71;ExcessHet=3.0103;FS=6.486;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.035;SOR=0.262;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMR1;Func=UTR3;Gene=NM_001194999,NM_001195000,NM_001195035,NM_001310213,NM_001531;GeneDetail=NM_001194999:c.*3G>A\x3bNM_001195000:c.*3G>A\x3bNM_001195035:c.*3G>A\x3bNM_001310213:c.*3G>A\x3bNM_001531:c.*3G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000282990.10,ENST00000367580.5,ENST00000367579.7,ENST00000434571.6,ENST00000614012.4,ENST00000617803.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.534;1000g2015aug_amr=0.5058;1000g2015aug_all=0.522364;esp6500siv2_all=0.3714;ExAC_ALL=0.3969;ExAC_AFR=0.5285;ExAC_AMR=0.5783;ExAC_EAS=0.7447;ExAC_FIN=0.2720;ExAC_NFE=0.2906;ExAC_OTH=0.3778;ExAC_SAS=0.4854;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,30:71:99:758,0,1113 1 181057874 rs6425663 T G 1111.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIER5;Func=UTR5;Gene=NM_016545;GeneDetail=NM_016545:c.-165T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367577.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1140,99,0 1 181058313 rs3747955 G A 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.136;DP=30;ExcessHet=3.0103;FS=1.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.083;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIER5;Func=exonic;Gene=NM_016545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IER5:NM_016545:exon1:c.G275A:p.R92H;Gencode=Name\x3eENST00000367577.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.4452;1000g2015aug_all=0.443291;esp6500siv2_all=0.2872;ExAC_ALL=0.5414;ExAC_AFR=0.3784;ExAC_AMR=0.6472;ExAC_EAS=0.6774;ExAC_FIN=0.6017;ExAC_NFE=0.5046;ExAC_OTH=0.5058;ExAC_SAS=0.5775;SIFT_score=0.437;SIFT_pred=T;Polyphen2_HDIV_score=0.014;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=0.969;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=2.85;FATHMM_pred=T;phyloP100way_vertebrate=0.335;phyloP20way_mammalian=-0.005;SiPhy_29way_logOdds=7.460;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,16:30:99:510,0,378 1 181058345 rs200142413 G A 582.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.487;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.032;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIER5;Func=exonic;Gene=NM_016545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IER5:NM_016545:exon1:c.G307A:p.E103K;Gencode=Name\x3eENST00000367577.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"320011:(GCCGCA)n(Simple_repeat)";avsnp150=rs200142413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.0139;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00579073;esp6500siv2_all=0.0130;ExAC_ALL=0.0194;ExAC_AFR=0.0047;ExAC_AMR=0.0099;ExAC_EAS=0;ExAC_FIN=0.0269;ExAC_NFE=0.0260;ExAC_OTH=0.0269;ExAC_SAS=0.0139;SIFT_score=0.094;SIFT_pred=T;Polyphen2_HDIV_score=0.44;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.14;Polyphen2_HVAR_pred=B;LRT_score=0.187;LRT_pred=U;MutationTaster_score=0.978;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=3.0;FATHMM_pred=T;phyloP100way_vertebrate=1.015;phyloP20way_mammalian=-0.105;SiPhy_29way_logOdds=7.648;gerp++gt2=2.02;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,20:36:99:611,0,458 1 181058618 rs1416829 C G 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.113;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIER5;Func=exonic;Gene=NM_016545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IER5:NM_016545:exon1:c.C580G:p.R194G;Gencode=Name\x3eENST00000367577.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1416829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.4452;1000g2015aug_all=0.44369;esp6500siv2_all=.;ExAC_ALL=0.5280;ExAC_AFR=0.3966;ExAC_AMR=0.4375;ExAC_EAS=0.6053;ExAC_FIN=0.6429;ExAC_NFE=0.4286;ExAC_OTH=0.4643;ExAC_SAS=0.5485;SIFT_score=0.056;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.533;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.46;MutationAssessor_pred=N;FATHMM_score=2.74;FATHMM_pred=T;phyloP100way_vertebrate=-0.093;phyloP20way_mammalian=-1.273;SiPhy_29way_logOdds=8.302;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:241,0,289 1 181058643 rs1361365 A G 786.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIER5;Func=exonic;Gene=NM_016545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IER5:NM_016545:exon1:c.A605G:p.Q202R;Gencode=Name\x3eENST00000367577.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1361365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.9856;1000g2015aug_all=0.966054;esp6500siv2_all=.;ExAC_ALL=0.9940;ExAC_AFR=0.8816;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=0.9939;ExAC_NFE=0.9967;ExAC_OTH=1;ExAC_SAS=0.9964;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.871;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.915;MutationAssessor_pred=N;FATHMM_score=2.7;FATHMM_pred=T;phyloP100way_vertebrate=-0.209;phyloP20way_mammalian=0.006;SiPhy_29way_logOdds=7.602;gerp++gt2=2.75;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:815,57,0 1 181144597 rs77633435 C G 1192.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101928973;Func=ncRNA_exonic;Gene=NR_125966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435023.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77633435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.289;1000g2015aug_amr=0.1628;1000g2015aug_all=0.267772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1221,111,0 1 181227380 rs10737230 A G 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046249,NM_001205294;GeneDetail=dist\x3e19640\x3bdist\x3e225306;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.8082;1000g2015aug_afr=0.711;1000g2015aug_amr=0.8473;1000g2015aug_all=0.838259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 181230117 rs2501547 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046249,NM_001205294;GeneDetail=dist\x3e22377\x3bdist\x3e222569;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1828\x3bName\x3e"320342:AluJo(SINE)";avsnp150=rs2501547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.8072;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.8559;1000g2015aug_all=0.855631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 181283171 rs56809391 C G 50.98 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.674;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046249,NM_001205294;GeneDetail=dist\x3e75431\x3bdist\x3e169515;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56809391;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.1758;1000g2015aug_all=0.196685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:13:79,0,13 1 181397901 rs66736549 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046249,NM_001205294;GeneDetail=dist\x3e190161\x3bdist\x3e54785;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66736549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.3746;1000g2015aug_all=0.370407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 181397906 rs67286802 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_046249,NM_001205294;GeneDetail=dist\x3e190166\x3bdist\x3e54780;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67286802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.3631;1000g2015aug_all=0.332069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 181549547 rs10494540 T G 980.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.95;SOR=5.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621791.4,ENST00000621551.3,ENST00000358338.7,ENST00000357570.9,ENST00000367570.5,ENST00000367567.8,ENST00000360108.7,ENST00000367573.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.4323;1000g2015aug_all=0.454473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1009,75,0 1 181680028 rs147289897 C T 850.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.779;DP=79;ExcessHet=3.0103;FS=1.009;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.155;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367567.8,ENST00000367570.5,ENST00000358338.7,ENST00000357570.9,ENST00000621791.4,ENST00000621551.3,ENST00000367573.6,ENST00000360108.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147289897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0159;1000g2015aug_afr=.;1000g2015aug_amr=0.0245;1000g2015aug_all=0.00878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,32:79:99:879,0,1339 1 181684605 rs12407563 A G 427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.259;DP=20;ExcessHet=3.0103;FS=5.19;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=-0.165;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367573.6,ENST00000360108.7,ENST00000357570.9,ENST00000358338.7,ENST00000621551.3,ENST00000621791.4,ENST00000367567.8,ENST00000367570.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12407563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.83;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.817;1000g2015aug_all=0.836262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,14:20:99:456,0,156 1 181686216 rs7540850 T C 1566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.335;DP=94;ExcessHet=3.0103;FS=1.823;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=1.085;SOR=0.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367573.6,ENST00000360108.7,ENST00000367567.8,ENST00000367570.5,ENST00000358338.7,ENST00000357570.9,ENST00000621791.4,ENST00000621551.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7540850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.6311;1000g2015aug_all=0.555112;esp6500siv2_all=0.5920;ExAC_ALL=0.6736;ExAC_AFR=0.2799;ExAC_AMR=0.6389;ExAC_EAS=0.7630;ExAC_FIN=0.7464;ExAC_NFE=0.7248;ExAC_OTH=0.6856;ExAC_SAS=0.6484;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,58:94:99:1595,0,896 1 181701423 rs2280865 C T 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-0.921;SOR=0.02;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367573.6,ENST00000360108.7,ENST00000367567.8,ENST00000367570.5,ENST00000358338.7,ENST00000357570.9,ENST00000621791.4,ENST00000621551.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.4467;1000g2015aug_all=0.385583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,227 1 181703276 rs12139677 T G 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360108.7,ENST00000367573.6,ENST00000621551.3,ENST00000621791.4,ENST00000357570.9,ENST00000358338.7,ENST00000367570.5,ENST00000367567.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e597\x3bName\x3e"321124:MIR3(SINE)";avsnp150=rs12139677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.464;1000g2015aug_all=0.517772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 181706552 rs2280866 G A 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.184;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621791.4,ENST00000621551.3,ENST00000358338.7,ENST00000357570.9,ENST00000367570.5,ENST00000367567.8,ENST00000360108.7,ENST00000367573.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.229;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2752;1000g2015aug_all=0.275359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:219,0,444 1 181714172 rs3843280 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367573.6,ENST00000360108.7,ENST00000367567.8,ENST00000367570.5,ENST00000358338.7,ENST00000357570.9,ENST00000621791.4,ENST00000621551.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3843280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.6599;1000g2015aug_all=0.711661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 181719679 rs704332 C T 649.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.318;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.063;SOR=0.772;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360108.7,ENST00000367573.6,ENST00000621551.3,ENST00000621791.4,ENST00000357570.9,ENST00000358338.7,ENST00000367570.5,ENST00000367567.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.513;1000g2015aug_all=0.548522;esp6500siv2_all=0.5434;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,26:62:99:678,0,909 1 181724209 rs704331 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621551.3,ENST00000621791.4,ENST00000357570.9,ENST00000358338.7,ENST00000367570.5,ENST00000367567.8,ENST00000360108.7,ENST00000367573.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.273;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2839;1000g2015aug_all=0.280551;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 181726413 rs704330 G A 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.426;DP=25;ExcessHet=3.0103;FS=12.852;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.179;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367573.6,ENST00000360108.7,ENST00000357570.9,ENST00000358338.7,ENST00000621551.3,ENST00000621791.4,ENST00000367567.8,ENST00000367570.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7937;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.832;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.8242;1000g2015aug_all=0.829872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:280,0,350 1 181727273 rs704329 G A 1016.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.745;DP=67;ExcessHet=3.0103;FS=1.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.416;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367570.5,ENST00000367567.8,ENST00000357570.9,ENST00000358338.7,ENST00000621551.3,ENST00000621791.4,ENST00000367573.6,ENST00000360108.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.3213;1000g2015aug_all=0.330272;esp6500siv2_all=0.3617;ExAC_ALL=0.4092;ExAC_AFR=0.1894;ExAC_AMR=0.3007;ExAC_EAS=0.4052;ExAC_FIN=0.4450;ExAC_NFE=0.4550;ExAC_OTH=0.3885;ExAC_SAS=0.4213;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,37:67:99:1045,0,865 1 181750469 rs704328 G T 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.105;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360108.7,ENST00000367573.6,ENST00000367567.8,ENST00000367570.5,ENST00000621551.3,ENST00000621791.4,ENST00000357570.9,ENST00000358338.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.182;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.4078;1000g2015aug_all=0.288339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:244,0,328 1 181753030 rs546191 T C 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=0.201;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=intronic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621791.4,ENST00000621551.3,ENST00000358338.7,ENST00000357570.9,ENST00000367570.5,ENST00000367567.8,ENST00000360108.7,ENST00000367573.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs546191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8264;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.7003;1000g2015aug_all=0.701677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:408,0,199 1 181759657 rs704326 G A 1014.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.551;DP=72;ExcessHet=3.0103;FS=3.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.153;SOR=1.129;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1E;Func=exonic;Gene=NM_000721,NM_001205293,NM_001205294;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CACNA1E:NM_001205294:exon43:c.G5806A:p.A1936T,CACNA1E:NM_000721:exon44:c.G5863A:p.A1955T,CACNA1E:NM_001205293:exon44:c.G5863A:p.A1955T;Gencode=Name\x3eENST00000360108.7,ENST00000367573.6,ENST00000621551.3,ENST00000621791.4,ENST00000357570.9,ENST00000358338.7,ENST00000367570.5,ENST00000367567.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.3242;1000g2015aug_all=0.276358;esp6500siv2_all=0.3597;ExAC_ALL=0.3859;ExAC_AFR=0.1529;ExAC_AMR=0.3200;ExAC_EAS=0.3973;ExAC_FIN=0.4279;ExAC_NFE=0.4682;ExAC_OTH=0.4009;ExAC_SAS=0.2145;SIFT_score=0.675;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.109;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=-3.92;FATHMM_pred=D;phyloP100way_vertebrate=0.366;phyloP20way_mammalian=-0.753;SiPhy_29way_logOdds=11.663;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,39:72:99:1043,0,890 1 181801835 rs518714 A G 169.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.22;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001205294,NM_001009992;GeneDetail=dist\x3e25916\x3bdist\x3e221870;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9431\x3bName\x3e"321241:LTR12C(LTR)";avsnp150=rs518714;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9652;1000g2015aug_amr=0.9957;1000g2015aug_all=0.990016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:198,24,0 1 181880345 rs515452 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001205294,NM_001009992;GeneDetail=dist\x3e104426\x3bdist\x3e143360;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs515452;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.969;1000g2015aug_amr=1;1000g2015aug_all=0.991813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 182212309 rs17448195 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01344;Func=ncRNA_intronic;Gene=NR_104175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449842.1,ENST00000608183.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17448195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.138;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.1052;1000g2015aug_all=0.128195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 182281464 rs2494474 G A 119.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01344;Func=ncRNA_intronic;Gene=NR_104175;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000449842.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2428\x3bName\x3e"322131:AluY(SINE)";avsnp150=rs2494474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9811;1000g2015aug_afr=0.8926;1000g2015aug_amr=0.9798;1000g2015aug_all=0.962061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:148,18,0 1 182299312 rs9425532 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_104175,NM_002065;GeneDetail=dist\x3e16116\x3bdist\x3e47916;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e566\x3bName\x3e"322179:FLAM_C(SINE)";avsnp150=rs9425532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9781;1000g2015aug_amr=1;1000g2015aug_all=0.994209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 182369078 rs6698722 G A 2341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.66;DP=171;ExcessHet=3.0103;FS=3.538;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.211;SOR=0.647;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEDDM1;Func=exonic;Gene=NM_172000;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TEDDM1:NM_172000:exon1:c.C543T:p.P181P;Gencode=Name\x3eENST00000367565.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.8156;1000g2015aug_all=0.853634;esp6500siv2_all=0.8382;ExAC_ALL=0.8151;ExAC_AFR=0.9324;ExAC_AMR=0.8107;ExAC_EAS=0.8507;ExAC_FIN=0.7797;ExAC_NFE=0.8007;ExAC_OTH=0.8139;ExAC_SAS=0.7979;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,82:170:99:2370,0,2630 1 182369738 rs7551829 G A 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.531;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTEDDM1;Func=UTR5;Gene=NM_172000;GeneDetail=NM_172000:c.-118C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367565.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.7894;1000g2015aug_eur=0.8171;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.8156;1000g2015aug_all=0.852636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:319,0,361 1 182392412 rs267873 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_034131,NM_001137669;GeneDetail=dist\x3e8464\x3bdist\x3e26844;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs267873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.8888;1000g2015aug_amr=0.6628;1000g2015aug_all=0.825879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 182427659 rs1822271 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1972\x3bName\x3e"322453:AluSx3(SINE)";avsnp150=rs1822271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.2983;1000g2015aug_all=0.304513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 182429728 rs266508 T C 1702.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e526\x3bName\x3e"322458:L2a(LINE)";avsnp150=rs266508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.816;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.6282;1000g2015aug_all=0.794728;esp6500siv2_all=.;ExAC_ALL=0.7739;ExAC_AFR=0.7938;ExAC_AMR=0.7065;ExAC_EAS=0.9167;ExAC_FIN=.;ExAC_NFE=0.6828;ExAC_OTH=0.7288;ExAC_SAS=0.8048;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1731,156,0 1 182429995 rs10911080 C A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11996\x3bName\x3e"322459:L1PA4(LINE)";avsnp150=rs10911080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.1564;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.2709;1000g2015aug_all=0.156749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 182443462 rs649437 T C 1284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.121;DP=85;ExcessHet=3.0103;FS=5.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.651;SOR=1.203;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=exonic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RGSL1:NM_001137669:exon6:c.T1216C:p.L406L;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs649437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4593;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.3489;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.5274;1000g2015aug_all=0.473842;esp6500siv2_all=0.3898;ExAC_ALL=0.4097;ExAC_AFR=0.5369;ExAC_AMR=0.5024;ExAC_EAS=0.4938;ExAC_FIN=0.2632;ExAC_NFE=0.3474;ExAC_OTH=0.3976;ExAC_SAS=0.4541;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,44:85:99:1313,0,1119 1 182487678 rs2477056 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3509\x3bName\x3e"322571:L1MA4(LINE)";avsnp150=rs2477056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.7896;1000g2015aug_all=0.785942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 182491107 rs607269 A C 765.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs607269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.7896;1000g2015aug_all=0.785942;esp6500siv2_all=0.8797;ExAC_ALL=0.8315;ExAC_AFR=0.8749;ExAC_AMR=0.8134;ExAC_EAS=0.6016;ExAC_FIN=0.9156;ExAC_NFE=0.8832;ExAC_OTH=0.8589;ExAC_SAS=0.7639;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:794,54,0 1 182491111 rs12142736 T C 380.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.51;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=1.429;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0774;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.2291;1000g2015aug_all=0.128994;esp6500siv2_all=0.1560;ExAC_ALL=0.1767;ExAC_AFR=0.0446;ExAC_AMR=0.2228;ExAC_EAS=0.0889;ExAC_FIN=0.1768;ExAC_NFE=0.2060;ExAC_OTH=0.2258;ExAC_SAS=0.1857;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,13:18:99:409,0,155 1 182491490 rs490273 T A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs490273;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.7925;1000g2015aug_all=0.792532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 182496829 rs7535533 A G 830.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.042;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.081;SOR=0.597;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=exonic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RGSL1:NM_001137669:exon11:c.A2047G:p.I683V;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.2435;1000g2015aug_all=0.312101;esp6500siv2_all=0.3254;ExAC_ALL=0.3436;ExAC_AFR=0.2127;ExAC_AMR=0.2452;ExAC_EAS=0.4187;ExAC_FIN=0.4287;ExAC_NFE=0.3928;ExAC_OTH=0.3710;ExAC_SAS=0.3138;SIFT_score=0.725;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.77;MutationAssessor_pred=N;FATHMM_score=4.64;FATHMM_pred=T;phyloP100way_vertebrate=-1.219;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=2.702;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,35:64:99:859,0,675 1 182501933 rs266534 C A 1300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.214;DP=85;ExcessHet=3.0103;FS=1.776;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.2;SOR=0.511;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs266534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5357;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.4478;1000g2015aug_amr=0.4784;1000g2015aug_all=0.533746;esp6500siv2_all=0.6189;ExAC_ALL=0.6087;ExAC_AFR=0.4648;ExAC_AMR=0.5172;ExAC_EAS=0.5077;ExAC_FIN=0.7401;ExAC_NFE=0.6718;ExAC_OTH=0.6270;ExAC_SAS=0.5739;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,48:85:99:1329,0,983 1 182502033 rs266535 G T 1555.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=1.298;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs266535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.8718;1000g2015aug_afr=0.5734;1000g2015aug_amr=0.7594;1000g2015aug_all=0.699681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1584,144,0 1 182509269 rs266531 G A 788.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.93;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs266531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.885;1000g2015aug_amr=0.7767;1000g2015aug_all=0.769569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:817,66,0 1 182509292 rs3856115 A G 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.185;DP=33;ExcessHet=3.0103;FS=1.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.992;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.4289;1000g2015aug_amr=0.4049;1000g2015aug_all=0.472244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,15:33:99:413,0,557 1 182509617 rs3911280 C A 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.732;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3911280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.3707;1000g2015aug_amr=0.3963;1000g2015aug_all=0.455272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 182517357 rs6657620 G C 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.32;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.529;SOR=0.084;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.5447;1000g2015aug_afr=0.4289;1000g2015aug_amr=0.4568;1000g2015aug_all=0.480431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:224,0,284 1 182517642 rs10911094 C A 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.384;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-1.058;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.3147;1000g2015aug_amr=0.245;1000g2015aug_all=0.21266;esp6500siv2_all=0.2181;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:510,0,487 1 182522552 rs266544 C T 952.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=62;ExcessHet=3.0103;FS=1.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.158;SOR=0.539;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGSL1;Func=intronic;Gene=NM_001137669;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294854.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs266544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.2911;1000g2015aug_all=0.224042;esp6500siv2_all=0.2808;ExAC_ALL=0.2685;ExAC_AFR=0.2142;ExAC_AMR=0.3058;ExAC_EAS=0.0802;ExAC_FIN=0.2751;ExAC_NFE=0.3115;ExAC_OTH=0.3110;ExAC_SAS=0.2483;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,37:62:99:981,0,585 1 182544815 rs11807829 T C 370.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.925;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=1.214;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=intronic;Gene=NM_021133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367559.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11807829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.338;1000g2015aug_afr=0.1732;1000g2015aug_amr=0.3415;1000g2015aug_all=0.277556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,12:17:99:399,0,124 1 182549019 rs533259 A G 2103.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=0.844;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=intronic;Gene=NM_021133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539397.1,ENST00000367559.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs533259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMultiple_sclerosis;1000g2015aug_eas=0.9544;1000g2015aug_sas=0.9315;1000g2015aug_eur=0.9374;1000g2015aug_afr=0.6846;1000g2015aug_amr=0.9452;1000g2015aug_all=0.874002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2132,207,0 1 182550200 rs501286 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.03;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=intronic;Gene=NM_021133;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367559.7,ENST00000539397.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs501286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9917;1000g2015aug_amr=1;1000g2015aug_all=0.997804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 182551337 rs627928 A C 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.503;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.522;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=exonic;Gene=NM_021133;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNASEL:NM_021133:exon4:c.T1623G:p.D541E;Gencode=Name\x3eENST00000367559.7,ENST00000539397.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs627928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7093;1000g2015aug_sas=0.4714;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.2632;1000g2015aug_amr=0.4424;1000g2015aug_all=0.479832;esp6500siv2_all=0.4722;ExAC_ALL=0.5380;ExAC_AFR=0.3189;ExAC_AMR=0.4861;ExAC_EAS=0.7216;ExAC_FIN=0.6104;ExAC_NFE=0.5593;ExAC_OTH=0.5727;ExAC_SAS=0.4993;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.473;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.405;MutationAssessor_pred=N;FATHMM_score=2.06;FATHMM_pred=T;phyloP100way_vertebrate=-2.265;phyloP20way_mammalian=-1.446;SiPhy_29way_logOdds=3.987;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,35:69:99:900,0,877 1 182554557 rs486907 C T 1709.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.268;DP=136;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.522;SOR=0.989;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=exonic;Gene=NM_021133;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNASEL:NM_021133:exon2:c.G1385A:p.R462Q;Gencode=Name\x3eENST00000539397.1,ENST00000367559.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs486907;cosmic70=.;CLNALLELEID=28045;CLNDN=Prostate_cancer,_susceptibility_to;CLNDISDB=.;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2233;1000g2015aug_all=0.230631;esp6500siv2_all=0.2808;ExAC_ALL=0.3089;ExAC_AFR=0.1225;ExAC_AMR=0.1586;ExAC_EAS=0.2291;ExAC_FIN=0.3858;ExAC_NFE=0.3701;ExAC_OTH=0.3477;ExAC_SAS=0.2935;SIFT_score=0.03;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.864;Polyphen2_HVAR_pred=P;LRT_score=0.156;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.34;MutationAssessor_pred=M;FATHMM_score=2.07;FATHMM_pred=T;phyloP100way_vertebrate=0.229;phyloP20way_mammalian=0.077;SiPhy_29way_logOdds=0.486;gerp++gt2=.;CADD=3.361;CADD_Phred=22.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,63:136:99:1738,0,1941 1 182556036 rs3738579 A G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.623;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNASEL;Func=UTR5;Gene=NM_021133;GeneDetail=NM_021133:c.-95T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367559.7,ENST00000539397.1;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.2089;1000g2015aug_all=0.227236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 182569626 rs1144566 T C 3298.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=0.853;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS16;Func=exonic;Gene=NM_002928;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RGS16:NM_002928:exon5:c.A410G:p.H137R;Gencode=Name\x3eENST00000367558.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1144566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.9766;1000g2015aug_amr=0.9856;1000g2015aug_all=0.986022;esp6500siv2_all=0.9750;ExAC_ALL=0.9824;ExAC_AFR=0.9781;ExAC_AMR=0.9915;ExAC_EAS=1;ExAC_FIN=0.9862;ExAC_NFE=0.9759;ExAC_OTH=0.9835;ExAC_SAS=0.9942;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-3.22;MutationAssessor_pred=N;FATHMM_score=1.9;FATHMM_pred=T;phyloP100way_vertebrate=3.149;phyloP20way_mammalian=0.030;SiPhy_29way_logOdds=13.828;gerp++gt2=5.3;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3327,317,0 1 182571003 rs610367 C T 439.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.262;DP=25;ExcessHet=3.0103;FS=10.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=1.388;SOR=3.477;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS16;Func=intronic;Gene=NM_002928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367558.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs610367;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.7089;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=0.6308;ExAC_AFR=0.3732;ExAC_AMR=0.8147;ExAC_EAS=0.7297;ExAC_FIN=0.6252;ExAC_NFE=0.6094;ExAC_OTH=0.6236;ExAC_SAS=0.6904;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:468,0,362 1 182571277 rs569790 C T 1598.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.366;DP=125;ExcessHet=3.0103;FS=4.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-2.253;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS16;Func=intronic;Gene=NM_002928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367558.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs569790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.4683;1000g2015aug_all=0.3127;esp6500siv2_all=0.3218;ExAC_ALL=0.3728;ExAC_AFR=0.1687;ExAC_AMR=0.4585;ExAC_EAS=0.2367;ExAC_FIN=0.3588;ExAC_NFE=0.3926;ExAC_OTH=0.3554;ExAC_SAS=0.4373;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,58:125:99:1627,0,1810 1 182573227 rs509476 T C 628.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS16;Func=intronic;Gene=NM_002928;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367558.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs509476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9781;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9885;1000g2015aug_all=0.992013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:657,57,0 1 182678213 rs670874 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001102450,NR_146548;GeneDetail=dist\x3e36146\x3bdist\x3e3784;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs670874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.3444;1000g2015aug_all=0.45607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 182778367 rs971040 G A 974.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.839;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPL;Func=intronic;Gene=NM_001200050,NM_001200051,NM_001200052,NM_001200056,NM_030769;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367555.5,ENST00000367553.5,ENST00000614468.1,ENST00000367552.6,ENST00000258317.6,ENST00000367554.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs971040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=0.9992;ExAC_AFR=0.9857;ExAC_AMR=0.9947;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1003,93,0 1 182784022 rs2275171 T C 1082.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=1.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNPL;Func=intronic;Gene=NM_001200050,NM_001200051,NM_001200052,NM_001200056,NM_030769;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367555.5,ENST00000367553.5,ENST00000614468.1,ENST00000367552.6,ENST00000258317.6,ENST00000367554.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275171;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.7557;1000g2015aug_amr=0.5058;1000g2015aug_all=0.584065;esp6500siv2_all=0.6326;ExAC_ALL=0.5916;ExAC_AFR=0.7290;ExAC_AMR=0.5715;ExAC_EAS=0.3871;ExAC_FIN=0.6022;ExAC_NFE=0.5910;ExAC_OTH=0.5756;ExAC_SAS=0.6237;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1111,108,0 1 182850727 rs6677840 T C 795.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDHX9;Func=exonic;Gene=NM_001357;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DHX9:NM_001357:exon24:c.T2859C:p.T953T;Gencode=Name\x3eENST00000367549.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.947;1000g2015aug_amr=0.9899;1000g2015aug_all=0.984625;esp6500siv2_all=0.9874;ExAC_ALL=0.9963;ExAC_AFR=0.9573;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9989;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:824,69,0 1 182928742 rs4567243 T C 614.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.378;DP=36;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.922;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001345928,NM_002293;GeneDetail=dist\x3e6082\x3bdist\x3e63853;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.903642\x3bName\x3echr3:12787332;Repeat=.;avsnp150=rs4567243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.16;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.3473;1000g2015aug_all=0.398762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:643,0,353 1 182929023 rs112645583 G A 640.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.707;DP=30;ExcessHet=3.0103;FS=1.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=-0.431;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001345928,NM_002293;GeneDetail=dist\x3e6363\x3bdist\x3e63572;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.903642\x3bName\x3echr3:12787332;Repeat=.;avsnp150=rs112645583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.2795;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,19:30:99:669,0,301 1 182929288 rs10911168 C T 93.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.533;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.091;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001345928,NM_002293;GeneDetail=dist\x3e6628\x3bdist\x3e63307;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.903642\x3bName\x3echr3:12787332;Repeat=.;avsnp150=rs10911168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.281;1000g2015aug_all=0.236022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:122,0,222 1 182929515 rs10911169 A G 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.949;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001345928,NM_002293;GeneDetail=dist\x3e6855\x3bdist\x3e63080;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=Score\x3e0.900361\x3bName\x3echrY:5573095;Repeat=.;avsnp150=rs10911169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.1725;1000g2015aug_amr=0.2795;1000g2015aug_all=0.236022;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 182993025 rs10911194 C T 5232.77 PASS AC=2;AF=1;AN=2;DP=156;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.3;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon1:c.C174T:p.A58A;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.611;1000g2015aug_all=0.519569;esp6500siv2_all=0.4805;ExAC_ALL=0.5580;ExAC_AFR=0.3539;ExAC_AMR=0.6823;ExAC_EAS=0.6314;ExAC_FIN=0.5913;ExAC_NFE=0.5309;ExAC_OTH=0.5851;ExAC_SAS=0.6478;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,156:156:99:5261,466,0 1 182993358 rs12030652 G T 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.017;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.078;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12030652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.2219;1000g2015aug_all=0.11861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,21:41:99:666,0,632 1 182993438 rs10911195 T C 440.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.611;1000g2015aug_all=0.519569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:469,36,0 1 183025303 rs10737238 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e387\x3bName\x3e"323660:MIRb(SINE)";avsnp150=rs10737238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.3328;1000g2015aug_amr=0.6081;1000g2015aug_all=0.523363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 183050610 rs10752894 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1549\x3bName\x3e"323711:AluSz(SINE)";avsnp150=rs10752894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.3359;1000g2015aug_amr=0.6081;1000g2015aug_all=0.523562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183072590 rs2296288 T C 3019.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon2:c.T546C:p.C182C;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6268;1000g2015aug_all=0.531949;esp6500siv2_all=0.5052;ExAC_ALL=0.5737;ExAC_AFR=0.3642;ExAC_AMR=0.6904;ExAC_EAS=0.6295;ExAC_FIN=0.5966;ExAC_NFE=0.5558;ExAC_OTH=0.6018;ExAC_SAS=0.6559;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:3048,279,0 1 183072701 rs2296289 C T 996.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.263;DP=74;ExcessHet=3.0103;FS=1.888;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.936;SOR=0.935;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon2:c.C657T:p.N219N;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.2219;1000g2015aug_all=0.11881;esp6500siv2_all=0.0958;ExAC_ALL=0.1389;ExAC_AFR=0.0381;ExAC_AMR=0.3010;ExAC_EAS=0.1257;ExAC_FIN=0.0959;ExAC_NFE=0.1173;ExAC_OTH=0.1205;ExAC_SAS=0.2054;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,36:74:99:1025,0,1123 1 183072908 rs10797835 T C 1408.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=1.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.53135;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1437,123,0 1 183077615 rs3765521 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.6138;1000g2015aug_all=0.505192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 183077618 rs3765522 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 183079412 rs2296290 C T 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 183079509 rs2296291 C T 397.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:426,39,0 1 183079853 rs6672093 T C 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.6138;1000g2015aug_all=0.504992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 183084607 rs3736888 A G 2291.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.77;SOR=2.97;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.6254;1000g2015aug_all=0.530351;esp6500siv2_all=0.0351;ExAC_ALL=0.5695;ExAC_AFR=0.3581;ExAC_AMR=0.6840;ExAC_EAS=0.6244;ExAC_FIN=0.5949;ExAC_NFE=0.5509;ExAC_OTH=0.5960;ExAC_SAS=0.6585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:2320,157,0 1 183084608 rs2027082 C A 2291.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=2.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2027082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.6254;1000g2015aug_all=0.530351;esp6500siv2_all=0.0484;ExAC_ALL=0.5695;ExAC_AFR=0.3582;ExAC_AMR=0.6839;ExAC_EAS=0.6241;ExAC_FIN=0.5949;ExAC_NFE=0.5508;ExAC_OTH=0.5973;ExAC_SAS=0.6590;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:2320,157,0 1 183085568 rs6424887 C T 571.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2501\x3bName\x3e"323760:AluSc(SINE)";avsnp150=rs6424887;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:600,48,0 1 183085696 rs6424888 A G 1742.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.6254;1000g2015aug_all=0.530152;esp6500siv2_all=0.5032;ExAC_ALL=0.5727;ExAC_AFR=0.3656;ExAC_AMR=0.6881;ExAC_EAS=0.6291;ExAC_FIN=0.5978;ExAC_NFE=0.5541;ExAC_OTH=0.5982;ExAC_SAS=0.6579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1771,165,0 1 183085755 rs20563 A G 1414.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAMC1:NM_002293:exon7:c.A1372G:p.I458V;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5035;ExAC_ALL=0.5725;ExAC_AFR=0.3640;ExAC_AMR=0.6881;ExAC_EAS=0.6295;ExAC_FIN=0.5977;ExAC_NFE=0.5535;ExAC_OTH=0.5969;ExAC_SAS=0.6584;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.010;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=0.15;FATHMM_pred=T;phyloP100way_vertebrate=-0.015;phyloP20way_mammalian=-0.837;SiPhy_29way_logOdds=6.730;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1443,144,0 1 183086190 rs10911253 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.1097;1000g2015aug_amr=0.366;1000g2015aug_all=0.336661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 183086238 rs10752900 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 183086757 rs2296292 A C 4125.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=0.795;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon10:c.A1776C:p.A592A;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5035;ExAC_ALL=0.5724;ExAC_AFR=0.3639;ExAC_AMR=0.6883;ExAC_EAS=0.6290;ExAC_FIN=0.5975;ExAC_NFE=0.5535;ExAC_OTH=0.5969;ExAC_SAS=0.6583;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:4154,366,0 1 183087393 rs554291069 A G 266.9 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.14;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.66;ReadPosRankSum=0.282;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs554291069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:15:295,0,15 1 183087485 rs10797846 A T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.86;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 183090751 rs2333621 A G 1012.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=2.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2333621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1041,87,0 1 183093875 rs20557 T C 4737.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=0.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon14:c.T2511C:p.N837N;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5035;ExAC_ALL=0.5724;ExAC_AFR=0.3640;ExAC_AMR=0.6881;ExAC_EAS=0.6278;ExAC_FIN=0.5980;ExAC_NFE=0.5535;ExAC_OTH=0.5969;ExAC_SAS=0.6583;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:4766,438,0 1 183094314 rs2093984 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1234\x3bName\x3e"323773:MER33(DNA)";avsnp150=rs2093984;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.634;1000g2015aug_all=0.561701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 183094322 rs2093985 C T 149.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1234\x3bName\x3e"323773:MER33(DNA)";avsnp150=rs2093985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.629;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.2481;1000g2015aug_amr=0.6138;1000g2015aug_all=0.507588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:177,12,0 1 183094547 rs20558 T C 4731.77 PASS AC=2;AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAMC1:NM_002293:exon15:c.T2663C:p.L888P;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5035;ExAC_ALL=0.5723;ExAC_AFR=0.3638;ExAC_AMR=0.6878;ExAC_EAS=0.6287;ExAC_FIN=0.5977;ExAC_NFE=0.5534;ExAC_OTH=0.5969;ExAC_SAS=0.6583;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.002;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;phyloP100way_vertebrate=4.469;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=14.475;gerp++gt2=5.64;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,143:143:99:4760,428,0 1 183094802 rs10797850 G A 694.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.741;DP=48;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.248;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.366;1000g2015aug_all=0.336462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,22:48:99:723,0,793 1 183095024 rs1886499 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 183095048 rs1886500 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.68;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 183095234 rs1886501 A G 2815.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=3.042;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1886501;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5034;ExAC_ALL=0.5748;ExAC_AFR=0.3676;ExAC_AMR=0.6891;ExAC_EAS=0.6279;ExAC_FIN=0.5984;ExAC_NFE=0.5555;ExAC_OTH=0.6011;ExAC_SAS=0.6637;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,80:80:99:2844,239,0 1 183095477 rs2296293 G A 3428.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e181\x3bName\x3e"323775:L3b(LINE)";avsnp150=rs2296293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3457,330,0 1 183095596 rs2296294 T C 581.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:610,45,0 1 183096634 rs1413390 G A 503.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e529\x3bName\x3e"323776:L2a(LINE)";avsnp150=rs1413390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:532,48,0 1 183096668 rs1413389 C T 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e529\x3bName\x3e"323776:L2a(LINE)";avsnp150=rs1413389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 183096694 rs1413388 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.78;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e529\x3bName\x3e"323776:L2a(LINE)";avsnp150=rs1413388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 183096774 rs1413387 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e529\x3bName\x3e"323776:L2a(LINE)";avsnp150=rs1413387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.634;1000g2015aug_all=0.563898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183097609 rs200840404 A T 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e811\x3bName\x3e"323778:L1PA4(LINE)";avsnp150=rs200840404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.2678;1000g2015aug_amr=0.6052;1000g2015aug_all=0.498203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 183098001 rs10797851 A G 878.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.03;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:907,75,0 1 183099701 rs2296300 G A 877.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.942;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5035;ExAC_ALL=0.5760;ExAC_AFR=0.3688;ExAC_AMR=0.6905;ExAC_EAS=0.6322;ExAC_FIN=0.5998;ExAC_NFE=0.5572;ExAC_OTH=0.6004;ExAC_SAS=0.6608;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:906,87,0 1 183099821 rs6691755 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 183100226 rs3820697 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2509\x3bName\x3e"323781:AluSp(SINE)";avsnp150=rs3820697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3344;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.1097;1000g2015aug_amr=0.3674;1000g2015aug_all=0.33746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183100555 rs2333620 T C 726.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2333620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.6239;1000g2015aug_all=0.53095;esp6500siv2_all=0.5033;ExAC_ALL=0.5690;ExAC_AFR=0.3630;ExAC_AMR=0.6830;ExAC_EAS=0.6222;ExAC_FIN=0.5935;ExAC_NFE=0.5498;ExAC_OTH=0.5951;ExAC_SAS=0.6575;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:755,54,0 1 183100596 rs2333619 A G 376.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2333619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3313;1000g2015aug_amr=0.6254;1000g2015aug_all=0.530751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:27:405,27,0 1 183100598 rs4047797 T G 331.78 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4047797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.591;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.6225;1000g2015aug_all=0.525759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:24:360,24,0 1 183101302 rs10797852 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2156\x3bName\x3e"323783:AluSx(SINE)";avsnp150=rs10797852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5656;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.6254;1000g2015aug_all=0.533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 183101444 rs12071514 A C 787.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.27;SOR=3.383;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"323784:(AAT)n(Simple_repeat)";avsnp150=rs12071514;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.3449;1000g2015aug_amr=0.6326;1000g2015aug_all=0.546925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:57:816,57,0 1 183101451 rs12066735 T G 457.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.09;ReadPosRankSum=0;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"323784:(AAT)n(Simple_repeat)";avsnp150=rs12066735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.3703;1000g2015aug_all=0.342652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,13:19:99:486,0,193 1 183101471 rs12061219 G A 1288.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=3.545;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12061219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1317,96,0 1 183101686 rs12095664 G A 2231.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12095664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=0.5032;ExAC_ALL=0.5725;ExAC_AFR=0.3644;ExAC_AMR=0.6882;ExAC_EAS=0.6276;ExAC_FIN=0.5977;ExAC_NFE=0.5536;ExAC_OTH=0.5969;ExAC_SAS=0.6585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2260,209,0 1 183102719 rs73036945 C T 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.472;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.019;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73036945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.2262;1000g2015aug_all=0.13099;esp6500siv2_all=0.1093;ExAC_ALL=0.1423;ExAC_AFR=0.0738;ExAC_AMR=0.3092;ExAC_EAS=0.1262;ExAC_FIN=0.0959;ExAC_NFE=0.1175;ExAC_OTH=0.1199;ExAC_SAS=0.2036;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,12:32:99:359,0,637 1 183102855 rs6666259 T C 85.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e899\x3bName\x3e"323787:FLAM_C(SINE)";avsnp150=rs6666259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.6254;1000g2015aug_all=0.531749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 183104013 rs2296299 G A 841.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.776;DP=62;ExcessHet=3.0103;FS=0.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.3729;1000g2015aug_amr=0.4063;1000g2015aug_all=0.429912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,32:62:99:870,0,1200 1 183104079 rs2296298 C G 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.746;DP=44;ExcessHet=3.0103;FS=1.177;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-1.538;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296298;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0242;1000g2015aug_amr=0.2219;1000g2015aug_all=0.119409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,22:44:99:740,0,783 1 183105324 rs2296297 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3631;1000g2015aug_amr=0.6225;1000g2015aug_all=0.535144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 183105399 rs2296296 C G 763.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.6268;1000g2015aug_all=0.552915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:792,66,0 1 183105534 rs20560 T C 2139.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon25:c.T4128C:p.R1376R;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.6354;1000g2015aug_all=0.560503;esp6500siv2_all=0.5399;ExAC_ALL=0.5808;ExAC_AFR=0.4768;ExAC_AMR=0.6928;ExAC_EAS=0.6276;ExAC_FIN=0.5986;ExAC_NFE=0.5530;ExAC_OTH=0.6004;ExAC_SAS=0.6473;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2168,192,0 1 183105705 rs20561 G A 767.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.172;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.96;MQRankSum=-0.84;QD=16;ReadPosRankSum=0.333;SOR=0.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=exonic;Gene=NM_002293;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC1:NM_002293:exon25:c.G4299A:p.A1433A;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs20561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.317;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.3833;1000g2015aug_all=0.351837;esp6500siv2_all=0.3588;ExAC_ALL=0.4498;ExAC_AFR=0.2455;ExAC_AMR=0.4319;ExAC_EAS=0.5292;ExAC_FIN=0.5475;ExAC_NFE=0.4718;ExAC_OTH=0.4917;ExAC_SAS=0.4157;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,27:48:99:796,0,596 1 183106739 rs10797854 G A 2112.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=intronic;Gene=NM_002293;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.589;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.6297;1000g2015aug_all=0.520168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2141,182,0 1 183112041 rs3359 G C 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.34;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC1;Func=UTR3;Gene=NM_002293;GeneDetail=NM_002293:c.*116G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258341.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.6455;1000g2015aug_all=0.576278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 183136196 rs4652781 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002293,NM_018891;GeneDetail=dist\x3e21469\x3bdist\x3e18978;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4652781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.32;1000g2015aug_eur=0.163;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.2853;1000g2015aug_all=0.239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 183136204 rs6673478 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002293,NM_018891;GeneDetail=dist\x3e21477\x3bdist\x3e18970;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.1196;1000g2015aug_all=0.081869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 183155399 rs2276542 A G 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.579;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.163;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=UTR5;Gene=NM_005562,NM_018891;GeneDetail=NM_005562:c.-89A>G\x3bNM_018891:c.-89A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2276542;cosmic70=.;CLNALLELEID=278681;CLNDN=Epidermolysis_bullosa,_junctional;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.1859;1000g2015aug_all=0.209065;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:326,0,307 1 183155717 rs61418038 C A 1080.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.18;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-1.142;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61418038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.6066;1000g2015aug_all=0.612021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,29:65:99:1109,0,1608 1 183155778 rs6703054 A C 273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.409;DP=23;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.055;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6703054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6037;1000g2015aug_all=0.611621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:302,0,458 1 183184428 rs2274982 C T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1409;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.1354;1000g2015aug_all=0.0872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 183184524 rs2274981 C T 700.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=2.636;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3184;1000g2015aug_all=0.313898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:729,63,0 1 183184616 rs2274980 C T 2485.77 PASS AC=2;AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.771;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=exonic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC2:NM_005562:exon3:c.C297T:p.S99S,LAMC2:NM_018891:exon3:c.C297T:p.S99S;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274980;cosmic70=.;CLNALLELEID=249574;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.317;1000g2015aug_all=0.313698;esp6500siv2_all=0.2461;ExAC_ALL=0.2460;ExAC_AFR=0.3784;ExAC_AMR=0.3961;ExAC_EAS=0.3482;ExAC_FIN=0.1787;ExAC_NFE=0.1753;ExAC_OTH=0.2093;ExAC_SAS=0.3185;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,75:75:99:2514,225,0 1 183184815 rs548051907 C T 731.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.065;DP=82;ExcessHet=3.0103;FS=3.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0.014;SOR=1.079;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e506\x3bName\x3e"323939:MIR(SINE)";avsnp150=rs548051907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,31:82:99:760,0,1402 1 183184848 rs875794 T G 2083.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=2.231;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e506\x3bName\x3e"323939:MIR(SINE)";avsnp150=rs875794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.159;1000g2015aug_afr=0.5567;1000g2015aug_amr=0.3329;1000g2015aug_all=0.357029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2112,192,0 1 183184960 rs875795 C T 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.62;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e506\x3bName\x3e"323939:MIR(SINE)";avsnp150=rs875795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3184;1000g2015aug_all=0.313898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 183187494 rs10911285 T C 1779.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.03;SOR=2.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3184;1000g2015aug_all=0.313898;esp6500siv2_all=0.2452;ExAC_ALL=0.2481;ExAC_AFR=0.3876;ExAC_AMR=0.3971;ExAC_EAS=0.3492;ExAC_FIN=0.1792;ExAC_NFE=0.1772;ExAC_OTH=0.2111;ExAC_SAS=0.3188;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1808,147,0 1 183187603 rs1129723 C T 3209.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.849;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=exonic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC2:NM_005562:exon4:c.C483T:p.V161V,LAMC2:NM_018891:exon4:c.C483T:p.V161V;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1129723;cosmic70=.;CLNALLELEID=249575;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.3184;1000g2015aug_all=0.313898;esp6500siv2_all=0.2461;ExAC_ALL=0.2566;ExAC_AFR=0.3864;ExAC_AMR=0.4094;ExAC_EAS=0.3584;ExAC_FIN=0.1900;ExAC_NFE=0.1846;ExAC_OTH=0.2203;ExAC_SAS=0.3273;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,108:108:99:3238,323,0 1 183191144 rs2296307 C T 1977.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.467;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.407;1000g2015aug_amr=0.3184;1000g2015aug_all=0.315695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2006,189,0 1 183192304 rs1047980 T G 4396.77 PASS AC=2;AF=1;AN=2;DP=143;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.203;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=exonic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC2:NM_005562:exon7:c.T798G:p.G266G,LAMC2:NM_018891:exon7:c.T798G:p.G266G;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1047980;cosmic70=.;CLNALLELEID=249576;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.159;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.3314;1000g2015aug_all=0.355032;esp6500siv2_all=0.2871;ExAC_ALL=0.2589;ExAC_AFR=0.5059;ExAC_AMR=0.4036;ExAC_EAS=0.3492;ExAC_FIN=0.1784;ExAC_NFE=0.1771;ExAC_OTH=0.2217;ExAC_SAS=0.3197;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,142:142:99:4425,426,0 1 183192496 rs3738824 A G 2419.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=2.704;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.1034;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.1427;1000g2015aug_all=0.113219;esp6500siv2_all=0.1224;ExAC_ALL=0.1280;ExAC_AFR=0.1078;ExAC_AMR=0.1695;ExAC_EAS=0.1829;ExAC_FIN=0.1530;ExAC_NFE=0.1237;ExAC_OTH=0.1427;ExAC_SAS=0.0899;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2448,207,0 1 183194619 rs2021956 A G 1011.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=2.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2021956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.3184;1000g2015aug_all=0.313898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1040,87,0 1 183197305 rs6658628 A G 684.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.159;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.3314;1000g2015aug_all=0.352835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:713,57,0 1 183201970 rs2296303 G C 2549.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=exonic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAMC2:NM_005562:exon14:c.G2198C:p.S733T,LAMC2:NM_018891:exon14:c.G2198C:p.S733T;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296303;cosmic70=.;CLNALLELEID=249578;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.1556;1000g2015aug_all=0.144968;esp6500siv2_all=0.1618;ExAC_ALL=0.1384;ExAC_AFR=0.2207;ExAC_AMR=0.1728;ExAC_EAS=0.1828;ExAC_FIN=0.1532;ExAC_NFE=0.1241;ExAC_OTH=0.1493;ExAC_SAS=0.0904;SIFT_score=0.051;SIFT_pred=T;Polyphen2_HDIV_score=0.104;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.081;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.937;MutationTaster_pred=P;MutationAssessor_score=2.505;MutationAssessor_pred=M;FATHMM_score=2.47;FATHMM_pred=T;phyloP100way_vertebrate=1.304;phyloP20way_mammalian=0.126;SiPhy_29way_logOdds=6.354;gerp++gt2=.;CADD=1.107;CADD_Phred=11.25;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2578,234,0 1 183204477 rs2296302 G A 590.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3353;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.562;1000g2015aug_amr=0.3343;1000g2015aug_all=0.358626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:619,60,0 1 183205480 rs3738823 C T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1170\x3bName\x3e"323969:AluJb(SINE)";avsnp150=rs3738823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.2186;1000g2015aug_amr=0.1556;1000g2015aug_all=0.144569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 183206573 rs1047981 G A 1565.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=exonic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMC2:NM_005562:exon18:c.G2688A:p.Q896Q,LAMC2:NM_018891:exon18:c.G2688A:p.Q896Q;Gencode=Name\x3eENST00000264144.4,ENST00000493293.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1047981;cosmic70=.;CLNALLELEID=249579;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.3314;1000g2015aug_all=0.352436;esp6500siv2_all=0.2864;ExAC_ALL=0.2579;ExAC_AFR=0.5014;ExAC_AMR=0.4013;ExAC_EAS=0.3469;ExAC_FIN=0.1786;ExAC_NFE=0.1766;ExAC_OTH=0.2203;ExAC_SAS=0.3196;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1594,155,0 1 183207603 rs1925043 T C 532.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.562;1000g2015aug_amr=0.3343;1000g2015aug_all=0.358826;esp6500siv2_all=0.2938;ExAC_ALL=0.2605;ExAC_AFR=0.5230;ExAC_AMR=0.4054;ExAC_EAS=0.3513;ExAC_FIN=0.1790;ExAC_NFE=0.1772;ExAC_OTH=0.2197;ExAC_SAS=0.3198;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:561,48,0 1 183208842 rs648809 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs648809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.1702;1000g2015aug_amr=0.1556;1000g2015aug_all=0.133387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 183209086 rs2477436 C A 1503.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=3.664;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562,NM_018891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000493293.5,ENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.5129;1000g2015aug_amr=0.3242;1000g2015aug_all=0.345647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1532,123,0 1 183212171 rs3768594 C A 999.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=2.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=intronic;Gene=NM_005562;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.3737;1000g2015aug_amr=0.3141;1000g2015aug_all=0.310503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1028,87,0 1 183212548 rs3768593 T G 3291.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=2.526;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMC2;Func=UTR3;Gene=NM_005562;GeneDetail=NM_005562:c.*13T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264144.4;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768593;cosmic70=.;CLNALLELEID=278762;CLNDN=Epidermolysis_bullosa,_junctional;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3681;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.3141;1000g2015aug_all=0.310903;esp6500siv2_all=0.2296;ExAC_ALL=0.2372;ExAC_AFR=0.3636;ExAC_AMR=0.3975;ExAC_EAS=0.3729;ExAC_FIN=0.1480;ExAC_NFE=0.1619;ExAC_OTH=0.2064;ExAC_SAS=0.3158;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3320,296,0 1 183222013 rs503243 G A 714.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT2;Func=intronic;Gene=NM_015039,NM_170706;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294868.8,ENST00000287713.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs503243;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3433;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.159;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.3184;1000g2015aug_all=0.34365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:743,54,0 1 183230519 rs76816476 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.28;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT2;Func=intronic;Gene=NM_015039,NM_170706;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294868.8,ENST00000287713.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76816476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3631;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.3847;1000g2015aug_all=0.282348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 183232704 rs12027380 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT2;Func=intronic;Gene=NM_015039,NM_170706;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294868.8,ENST00000287713.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2397\x3bName\x3e"324019:AluYc(SINE)";avsnp150=rs12027380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.025;1000g2015aug_amr=0.1354;1000g2015aug_all=0.0920527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 183241178 rs530186 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT2;Func=intronic;Gene=NM_015039,NM_170706;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294868.8,ENST00000287713.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2271\x3bName\x3e"324039:AluSq2(SINE)";avsnp150=rs530186;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.9914;1000g2015aug_all=0.965855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 183261710 rs944189 A G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNMNAT2;Func=intronic;Gene=NM_015039,NM_170706;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294868.8,ENST00000287713.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs944189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.456;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.413;1000g2015aug_amr=0.6225;1000g2015aug_all=0.521565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 183391524 rs2702191 T A 266.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_015039,NR_040063;GeneDetail=dist\x3e3890\x3bdist\x3e38487;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2391\x3bName\x3e"324363:MSTA(LTR)";avsnp150=rs2702191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.59;1000g2015aug_amr=0.7233;1000g2015aug_all=0.71885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:295,27,0 1 183441991 rs6671819 G A 370.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=intronic;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_001350222,NM_173156,NM_201568,NM_201569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508461.5,ENST00000367537.7,ENST00000507469.5,ENST00000515829.6,ENST00000347615.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.0828;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.295;1000g2015aug_amr=0.2233;1000g2015aug_all=0.165935;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:399,36,0 1 183471295 rs789193 G T 134.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=intronic;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_001350222,NM_173156,NM_201568,NM_201569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508461.5,ENST00000367537.7,ENST00000515829.6,ENST00000507469.5,ENST00000347615.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs789193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9121;1000g2015aug_all=0.941893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:163,15,0 1 183486859 rs789169 G A 1741.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=exonic;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_173156,NM_201568,NM_201569;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L;Gencode=Name\x3eENST00000507469.5,ENST00000515829.6,ENST00000347615.6,ENST00000508461.5,ENST00000367537.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs789169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.956;1000g2015aug_eur=0.8698;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.9135;1000g2015aug_all=0.941893;esp6500siv2_all=0.8967;ExAC_ALL=0.9037;ExAC_AFR=0.9510;ExAC_AMR=0.9365;ExAC_EAS=0.9992;ExAC_FIN=0.9100;ExAC_NFE=0.8689;ExAC_OTH=0.8822;ExAC_SAS=0.9399;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1770,170,0 1 183515428 rs2298083 G A 902.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=exonic;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_001350222,NM_173156,NM_201568,NM_201569;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SMG7:NM_001174061:exon16:c.G2572A:p.V858I,SMG7:NM_001350222:exon17:c.G1555A:p.V519I,SMG7:NM_173156:exon17:c.G2698A:p.V900I,SMG7:NM_201568:exon17:c.G2560A:p.V854I,SMG7:NM_201569:exon17:c.G2560A:p.V854I,SMG7:NM_001331007:exon18:c.G2647A:p.V883I,SMG7:NM_001350219:exon19:c.G2647A:p.V883I,SMG7:NM_001350220:exon19:c.G2785A:p.V929I,SMG7:NM_001350221:exon19:c.G2647A:p.V883I;Gencode=Name\x3eENST00000507469.5,ENST00000515829.6,ENST00000347615.6,ENST00000508461.5,ENST00000367537.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.0828;1000g2015aug_eur=0.0984;1000g2015aug_afr=0.2935;1000g2015aug_amr=0.2233;1000g2015aug_all=0.165535;esp6500siv2_all=0.1592;ExAC_ALL=0.1231;ExAC_AFR=0.2670;ExAC_AMR=0.1719;ExAC_EAS=0.1072;ExAC_FIN=0.1077;ExAC_NFE=0.1024;ExAC_OTH=0.1112;ExAC_SAS=0.0972;SIFT_score=0.067;SIFT_pred=T;Polyphen2_HDIV_score=0.255;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.071;Polyphen2_HVAR_pred=B;LRT_score=0.921;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.43;MutationAssessor_pred=L;FATHMM_score=0.82;FATHMM_pred=T;phyloP100way_vertebrate=5.614;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=19.897;gerp++gt2=5.72;CADD=2.154;CADD_Phred=17.21;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:931,84,0 1 183516100 rs699246 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=intronic;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_001350222,NM_173156,NM_201568,NM_201569;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000507469.5,ENST00000515829.6,ENST00000347615.6,ENST00000508461.5,ENST00000367537.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.6167;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 183521283 rs699245 C T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMG7;Func=UTR3;Gene=NM_001174061,NM_001331007,NM_001350219,NM_001350220,NM_001350221,NM_001350222,NM_173156,NM_201568;GeneDetail=NM_001174061:c.*217C>T\x3bNM_001331007:c.*217C>T\x3bNM_001350219:c.*217C>T\x3bNM_001350220:c.*217C>T\x3bNM_001350221:c.*217C>T\x3bNM_001350222:c.*217C>T\x3bNM_173156:c.*217C>T\x3bNM_201568:c.*217C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508461.5,ENST00000367537.7,ENST00000507469.5,ENST00000515829.6,ENST00000347615.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.5348;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.5416;1000g2015aug_amr=0.611;1000g2015aug_all=0.557708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 183525452 rs699244 T G 1342.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.206;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000367535.7,ENST00000413720.5,ENST00000418089.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.955;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.9063;1000g2015aug_all=0.927516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1371,123,0 1 183525620 rs789180 A T 219.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000367535.7,ENST00000413720.5,ENST00000418089.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs789180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.3464;1000g2015aug_amr=0.2277;1000g2015aug_all=0.180112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:248,18,0 1 183534935 rs2296164 C T 3742.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=0.946;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000418089.5,ENST00000413720.5,ENST00000367535.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.5965;1000g2015aug_all=0.477636;esp6500siv2_all=0.4291;ExAC_ALL=0.4832;ExAC_AFR=0.3582;ExAC_AMR=0.6577;ExAC_EAS=0.6146;ExAC_FIN=0.4785;ExAC_NFE=0.4598;ExAC_OTH=0.4733;ExAC_SAS=0.4681;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3771,338,0 1 183538725 rs3768583 T A 51.14 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.05;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000367535.7,ENST00000413720.5,ENST00000418089.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.598;1000g2015aug_all=0.484026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:87,9,0 1 183539449 rs3843293 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000367535.7,ENST00000413720.5,ENST00000418089.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3843293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.598;1000g2015aug_all=0.481829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183542387 rs2274064 T C 2206.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=exonic;Gene=NM_000433,NM_001127651,NM_001190794;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NCF2:NM_001190794:exon4:c.A407G:p.K136R,NCF2:NM_000433:exon5:c.A542G:p.K181R,NCF2:NM_001127651:exon6:c.A542G:p.K181R;Gencode=Name\x3eENST00000418089.5,ENST00000413720.5,ENST00000367535.7,ENST00000367536.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274064;cosmic70=.;CLNALLELEID=249583;CLNDN=Chronic_granulomatous_disease|not_specified;CLNDISDB=MedGen:C0018203,Orphanet:ORPHA379|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.598;1000g2015aug_all=0.491613;esp6500siv2_all=0.4300;ExAC_ALL=0.4895;ExAC_AFR=0.3626;ExAC_AMR=0.6573;ExAC_EAS=0.6286;ExAC_FIN=0.4749;ExAC_NFE=0.4582;ExAC_OTH=0.4758;ExAC_SAS=0.5122;SIFT_score=0.909;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.075;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-0.17;FATHMM_pred=T;phyloP100way_vertebrate=0.615;phyloP20way_mammalian=-0.374;SiPhy_29way_logOdds=9.926;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2235,201,0 1 183542747 rs3818364 G T 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000418089.5,ENST00000413720.5,ENST00000367535.7,ENST00000367536.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.5965;1000g2015aug_all=0.488818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 183543435 rs55900365 C A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367535.7,ENST00000418089.5,ENST00000413720.5,ENST00000367536.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55900365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 183546473 rs699242 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000367535.7,ENST00000418089.5,ENST00000413720.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7972;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.8242;1000g2015aug_all=0.771765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 183547032 rs10797888 T C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367535.7,ENST00000418089.5,ENST00000413720.5,ENST00000367536.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10797888;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.1787;1000g2015aug_all=0.08127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 183555757 rs789190 T C 370.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000418089.5,ENST00000413720.5,ENST00000367535.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs789190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9622;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.9813;1000g2015aug_all=0.980831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:399,27,0 1 183555779 rs11578964 C T 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.493;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.28;ReadPosRankSum=-0.493;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000413720.5,ENST00000418089.5,ENST00000367535.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.4683;1000g2015aug_all=0.295327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:53:311,0,53 1 183556291 rs789192 A G 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNCF2;Func=intronic;Gene=NM_000433,NM_001127651,NM_001190789,NM_001190794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367536.5,ENST00000418089.5,ENST00000413720.5,ENST00000367535.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs789192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1607;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.5331;1000g2015aug_all=0.441693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,262 1 183592416 rs2761573 G T 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.064;DP=46;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.022;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001127651,NM_005717;GeneDetail=dist\x3e32360\x3bdist\x3e2912;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359856.10,ENST00000367534.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2761573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.319;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4909;1000g2015aug_amr=0.3501;1000g2015aug_all=0.370008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,20:46:99:529,0,744 1 183592570 rs17488675 C T 1356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.317;DP=107;ExcessHet=3.0103;FS=0.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.009;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001127651,NM_005717;GeneDetail=dist\x3e32514\x3bdist\x3e2758;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367534.5,ENST00000359856.10;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17488675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.281;1000g2015aug_all=0.193291;esp6500siv2_all=.;ExAC_ALL=0.2825;ExAC_AFR=0.0982;ExAC_AMR=0.2534;ExAC_EAS=0.0885;ExAC_FIN=0.3340;ExAC_NFE=0.3578;ExAC_OTH=0.3010;ExAC_SAS=0.2538;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,55:107:99:1385,0,1271 1 183604905 rs2767305 A G 1926.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.544;DP=86;ExcessHet=3.0103;FS=8.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.4;ReadPosRankSum=-0.635;SOR=0.161;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARPC5;Func=UTR5;Gene=NM_001270439,NM_005717;GeneDetail=NM_001270439:c.-111T>C\x3bNM_005717:c.-111T>C;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2767305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2748;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.789;1000g2015aug_amr=0.5648;1000g2015aug_all=0.513578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,63:86:99:1955,0,614 1 183616926 rs1174657 T C 749.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.098;DP=54;ExcessHet=3.0103;FS=2.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.989;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOBEC4,RGL1;Func=exonic;Gene=NM_203454;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=APOBEC4:NM_203454:exon2:c.A991G:p.K331E;Gencode=Name\x3eENST00000304685.8,ENST00000308641.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1174657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.319;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.3473;1000g2015aug_all=0.370208;esp6500siv2_all=0.4205;ExAC_ALL=0.3679;ExAC_AFR=0.4668;ExAC_AMR=0.2980;ExAC_EAS=0.2213;ExAC_FIN=0.3673;ExAC_NFE=0.3944;ExAC_OTH=0.3789;ExAC_SAS=0.3241;SIFT_score=0.74;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.753;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.32;MutationAssessor_pred=L;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=0.037;phyloP20way_mammalian=-2.315;SiPhy_29way_logOdds=6.984;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,29:54:99:778,0,651 1 183617105 rs1174658 A G 1158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.232;DP=115;ExcessHet=3.0103;FS=1.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.188;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAPOBEC4,RGL1;Func=exonic;Gene=NM_203454;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=APOBEC4:NM_203454:exon2:c.T812C:p.F271S;Gencode=Name\x3eENST00000304685.8,ENST00000308641.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1174658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.319;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.3473;1000g2015aug_all=0.370208;esp6500siv2_all=0.4205;ExAC_ALL=0.3680;ExAC_AFR=0.4671;ExAC_AMR=0.2981;ExAC_EAS=0.2213;ExAC_FIN=0.3674;ExAC_NFE=0.3944;ExAC_OTH=0.3797;ExAC_SAS=0.3239;SIFT_score=0.762;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.035;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.175;MutationAssessor_pred=N;FATHMM_score=2.91;FATHMM_pred=T;phyloP100way_vertebrate=1.709;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=8.190;gerp++gt2=4.55;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,48:115:99:1187,0,1933 1 183617266 rs17436878 C G 1434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.876;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.913;SOR=0.651;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1,APOBEC4;Func=exonic;Gene=NM_203454;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=APOBEC4:NM_203454:exon2:c.G651C:p.G217G;Gencode=Name\x3eENST00000304685.8,ENST00000308641.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17436878;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.1527;1000g2015aug_all=0.139776;esp6500siv2_all=0.2095;ExAC_ALL=0.2269;ExAC_AFR=0.0529;ExAC_AMR=0.1170;ExAC_EAS=0.0144;ExAC_FIN=0.2887;ExAC_NFE=0.2844;ExAC_OTH=0.2610;ExAC_SAS=0.2661;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,51:101:99:1463,0,1506 1 183654325 rs1174685 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1174685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.3638;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.2997;1000g2015aug_all=0.234425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183674297 rs6689503 T C 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=1.196;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32226\x3bName\x3e"324894:HERVH48-int(LTR)";avsnp150=rs6689503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.504;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.428;1000g2015aug_all=0.497604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,247 1 183711483 rs3820689 C T 672.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.999;DP=78;ExcessHet=3.0103;FS=0.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=1.06;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.505;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.4179;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,26:78:99:701,0,1530 1 183779132 rs77712703 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77712703;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0645;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.27;1000g2015aug_amr=0.2219;1000g2015aug_all=0.179313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183793420 rs4652826 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2154\x3bName\x3e"325102:L3(LINE)";avsnp150=rs4652826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.6354;1000g2015aug_all=0.579473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183816683 rs10494570 G T 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.944;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.0815;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.121;1000g2015aug_all=0.0952476;esp6500siv2_all=0.0853;ExAC_ALL=0.0870;ExAC_AFR=0.1090;ExAC_AMR=0.0976;ExAC_EAS=0.0414;ExAC_FIN=0.0832;ExAC_NFE=0.0815;ExAC_OTH=0.0784;ExAC_SAS=0.1141;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,292 1 183853333 rs143100961 G A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143100961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 183857394 rs10911460 A G 107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.559;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.437;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.5346;1000g2015aug_all=0.577077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:136,0,140 1 183857958 rs140053819 G A 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.74;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=1.638;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360851.3,ENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs140053819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0159;1000g2015aug_amr=.;1000g2015aug_all=0.00479233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,12:16:99:417,0,119 1 183860872 rs937408307 T G 37.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e28\x3bName\x3e"325211:(T)n(Simple_repeat)";avsnp150=rs937408307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0 1 183867085 rs3814330 C T 772.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.073;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0.312;SOR=0.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3814330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3722;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.2795;1000g2015aug_all=0.367013;esp6500siv2_all=0.3029;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,27:48:99:801,0,597 1 183871637 rs4604659 G A 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.546;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.386;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360851.3,ENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4604659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.5173;1000g2015aug_all=0.552915;esp6500siv2_all=0.5574;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:361,0,383 1 183874116 rs146808525 C T 1108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.225;DP=60;ExcessHet=3.0103;FS=3.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-2.944;SOR=0.965;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs146808525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0257;1000g2015aug_amr=.;1000g2015aug_all=0.00738818;esp6500siv2_all=0.0078;ExAC_ALL=0.0031;ExAC_AFR=0.0209;ExAC_AMR=0.0026;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0018;ExAC_OTH=0.0066;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,36:60:99:1137,0,715 1 183874327 rs144225702 A T 237.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.531;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=-0.064;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=intronic;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360851.3,ENST00000304685.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e297\x3bName\x3e"325234:MIRb(SINE)";avsnp150=rs144225702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0234;1000g2015aug_amr=.;1000g2015aug_all=0.00678914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,9:14:99:266,0,167 1 183895435 rs4382680 A C 459.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.532;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.862;SOR=0.578;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGL1;Func=UTR3;Gene=NM_001297669,NM_001297670,NM_001297671,NM_001297672,NM_015149;GeneDetail=NM_001297669:c.*9A>C\x3bNM_001297670:c.*9A>C\x3bNM_001297671:c.*9A>C\x3bNM_001297672:c.*9A>C\x3bNM_015149:c.*9A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000304685.8,ENST00000360851.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4382680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.062;1000g2015aug_all=0.0385383;esp6500siv2_all=0.0670;ExAC_ALL=0.0693;ExAC_AFR=0.0172;ExAC_AMR=0.0587;ExAC_EAS=0.0002;ExAC_FIN=0.0588;ExAC_NFE=0.0964;ExAC_OTH=0.0853;ExAC_SAS=0.0375;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,17:40:99:488,0,670 1 183908222 rs3010040 C T 1491.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.553;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.026;SOR=0.672;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367521.5,ENST00000361927.8,ENST00000367520.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3010040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.226;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.245;1000g2015aug_all=0.174321;esp6500siv2_all=0.1562;ExAC_ALL=0.2002;ExAC_AFR=0.0955;ExAC_AMR=0.3222;ExAC_EAS=0.2221;ExAC_FIN=0.1548;ExAC_NFE=0.1876;ExAC_OTH=0.1954;ExAC_SAS=0.2484;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,56:104:99:1520,0,1386 1 183909623 rs139035282 C T 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.928;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367520.3,ENST00000367521.5,ENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139035282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00638978;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:441,0,274 1 183909717 rs2296713 G A 751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.045;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.772;SOR=0.785;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=exonic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COLGALT2:NM_001303420:exon11:c.C1602T:p.P534P,COLGALT2:NM_001303421:exon11:c.C1242T:p.P414P,COLGALT2:NM_015101:exon11:c.C1602T:p.P534P;Gencode=Name\x3eENST00000367521.5,ENST00000361927.8,ENST00000367520.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.245;1000g2015aug_all=0.172324;esp6500siv2_all=0.1576;ExAC_ALL=0.1984;ExAC_AFR=0.0928;ExAC_AMR=0.3176;ExAC_EAS=0.2205;ExAC_FIN=0.1507;ExAC_NFE=0.1863;ExAC_OTH=0.1927;ExAC_SAS=0.2384;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,29:65:99:780,0,1021 1 183909934 rs1887278 G A 554.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.155;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.07;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367520.3,ENST00000367521.5,ENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.245;1000g2015aug_all=0.172324;esp6500siv2_all=0.1572;ExAC_ALL=0.1984;ExAC_AFR=0.0926;ExAC_AMR=0.3175;ExAC_EAS=0.2203;ExAC_FIN=0.1507;ExAC_NFE=0.1862;ExAC_OTH=0.1927;ExAC_SAS=0.2388;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:583,0,501 1 183910160 rs1887279 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8,ENST00000367521.5,ENST00000367520.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1887279;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1776;1000g2015aug_sas=0.226;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.2478;1000g2015aug_all=0.179513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 183912849 . A C 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=48.99;MQRankSum=-1.645;QD=18.35;ReadPosRankSum=-0.524;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8,ENST00000367521.5,ENST00000367520.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,847 1 183932815 rs12127826 G A 434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.225;DP=23;ExcessHet=3.0103;FS=5.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=1.07;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8,ENST00000367520.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e257\x3bName\x3e"325327:L2c(LINE)";avsnp150=rs12127826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0174;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0684904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,16:23:99:463,0,223 1 183933498 rs12725649 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367520.3,ENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12725649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.087;1000g2015aug_amr=0.304;1000g2015aug_all=0.170927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183934680 rs2378793 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.46;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1124\x3bName\x3e"325328:HAL1(LINE)";avsnp150=rs2378793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.664;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.7565;1000g2015aug_all=0.76877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 183938202 rs7531114 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.3026;1000g2015aug_all=0.195288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 183938304 rs4651158 C A 1018.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=6.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4651158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.663;1000g2015aug_afr=0.848;1000g2015aug_amr=0.7579;1000g2015aug_all=0.769369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:75:1047,75,0 1 184006128 rs74767794 A G 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=intronic;Gene=NM_001303420,NM_001303421,NM_015101;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74767794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.2925;1000g2015aug_all=0.305312;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 184006549 rs114661926 C G 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.033;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.845;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOLGALT2;Func=UTR5;Gene=NM_001303420,NM_015101;GeneDetail=NM_001303420:c.-58G>C\x3bNM_015101:c.-58G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361927.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114661926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.3211;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.1203;1000g2015aug_amr=0.2824;1000g2015aug_all=0.283746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:280,0,295 1 184020945 rs2274432 G A 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.471;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-0.084;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSEN15;Func=exonic;Gene=NM_001127394,NM_001300764,NM_001300766,NM_052965;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TSEN15:NM_001127394:exon1:c.G56A:p.G19D,TSEN15:NM_001300764:exon1:c.G56A:p.G19D,TSEN15:NM_001300766:exon1:c.G56A:p.G19D,TSEN15:NM_052965:exon1:c.G56A:p.G19D;Gencode=Name\x3eENST00000361641.5,ENST00000423085.6,ENST00000533373.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHeight;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3732;1000g2015aug_eur=0.327;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.304;1000g2015aug_all=0.303914;esp6500siv2_all=0.2423;ExAC_ALL=0.3475;ExAC_AFR=0.1946;ExAC_AMR=0.425;ExAC_EAS=0.5823;ExAC_FIN=0.6579;ExAC_NFE=0.3632;ExAC_OTH=0.35;ExAC_SAS=0.3380;SIFT_score=0.108;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.618;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=1.53;FATHMM_pred=T;phyloP100way_vertebrate=-0.161;phyloP20way_mammalian=0.077;SiPhy_29way_logOdds=5.919;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:226,0,131 1 184023529 rs1046934 A C 982.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.316;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.75;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSEN15;Func=exonic;Gene=NM_001127394,NM_001300764,NM_001300766,NM_052965;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_001300764:exon2:c.A177C:p.Q59H,TSEN15:NM_001300766:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H;Gencode=Name\x3eENST00000361641.5,ENST00000423085.6,ENST00000533373.5;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eHeight;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.327;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3026;1000g2015aug_all=0.302915;esp6500siv2_all=0.2849;ExAC_ALL=0.3349;ExAC_AFR=0.1520;ExAC_AMR=0.3146;ExAC_EAS=0.4861;ExAC_FIN=0.4216;ExAC_NFE=0.3381;ExAC_OTH=0.3653;ExAC_SAS=0.3361;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.021;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.33;MutationAssessor_pred=M;FATHMM_score=0.79;FATHMM_pred=T;phyloP100way_vertebrate=1.782;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=5.549;gerp++gt2=.;CADD=2.789;CADD_Phred=21.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,44:104:99:1011,0,1454 1 184178899 rs2019376 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052965,NM_030806;GeneDetail=dist\x3e135555\x3bdist\x3e177251;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2187\x3bName\x3e"325781:AluSz(SINE)";avsnp150=rs2019376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.547;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.7017;1000g2015aug_all=0.672724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 184325887 rs4487995 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052965,NM_030806;GeneDetail=dist\x3e282543\x3bdist\x3e30263;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e434\x3bName\x3e"326054:L4_B_Mam(LINE)";avsnp150=rs4487995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.8631;1000g2015aug_all=0.884185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 184335888 rs6655949 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_052965,NM_030806;GeneDetail=dist\x3e292544\x3bdist\x3e20262;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6655949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.8701;1000g2015aug_eur=0.8062;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.8401;1000g2015aug_all=0.832668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 184476621 rs9633308 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.231;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf21;Func=intronic;Gene=NM_030806;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235307.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9633308;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.41;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.8427;1000g2015aug_amr=0.5706;1000g2015aug_all=0.577476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 184536171 rs749214 T C 209.88 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.08;ReadPosRankSum=-0.66;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf21;Func=intronic;Gene=NM_030806;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235307.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs749214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.4732;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.5908;1000g2015aug_all=0.63139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,9:11:16:238,0,16 1 184567463 rs10465489 G T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.741;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.702;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf21;Func=intronic;Gene=NM_030806;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235307.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10465489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.2305;1000g2015aug_all=0.409944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:149,0,142 1 184588710 rs16823344 A C 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=43;ExcessHet=3.0103;FS=1.149;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.416;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf21;Func=UTR3;Gene=NM_030806;GeneDetail=NM_030806:c.*20A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235307.6;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16823344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0724;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.0398;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0672923;esp6500siv2_all=0.0554;ExAC_ALL=0.0520;ExAC_AFR=0.0998;ExAC_AMR=0.0626;ExAC_EAS=0.0678;ExAC_FIN=0.1023;ExAC_NFE=0.0411;ExAC_OTH=0.0629;ExAC_SAS=0.0297;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,22:42:99:589,0,466 1 184619666 rs12144908 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030806,NM_025191;GeneDetail=dist\x3e21511\x3bdist\x3e39959;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e271\x3bName\x3e"326600:L2c(LINE)";avsnp150=rs12144908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.2406;1000g2015aug_all=0.207867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 184662659 rs6690603 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDEM3;Func=UTR3;Gene=NM_001319960,NM_025191;GeneDetail=NM_001319960:c.*538T>C\x3bNM_025191:c.*538T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318130.12,ENST00000367512.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.0692;1000g2015aug_all=0.13778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 184672179 rs7513276 A G 255.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-1.021;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDEM3;Func=intronic;Gene=NM_001319960,NM_025191;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367512.7,ENST00000318130.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.0692;1000g2015aug_all=0.13778;esp6500siv2_all=0.1172;ExAC_ALL=0.0673;ExAC_AFR=0.3371;ExAC_AMR=0.0509;ExAC_EAS=0.0858;ExAC_FIN=0.0655;ExAC_NFE=0.0295;ExAC_OTH=0.0719;ExAC_SAS=0.0263;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:284,0,247 1 184677464 rs3736757 G A 886.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.225;DP=60;ExcessHet=3.0103;FS=6.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-2.24;SOR=0.192;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDEM3;Func=exonic;Gene=NM_001319960,NM_025191;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EDEM3:NM_001319960:exon17:c.C1860T:p.I620I,EDEM3:NM_025191:exon17:c.C1860T:p.I620I;Gencode=Name\x3eENST00000318130.12,ENST00000367512.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eObesity-related_traits;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.5101;1000g2015aug_all=0.651957;esp6500siv2_all=0.5826;ExAC_ALL=0.5353;ExAC_AFR=0.8040;ExAC_AMR=0.4693;ExAC_EAS=0.6815;ExAC_FIN=0.5036;ExAC_NFE=0.4703;ExAC_OTH=0.5442;ExAC_SAS=0.6099;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,31:59:99:915,0,890 1 184681081 rs7525074 A G 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.77;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=-1.46;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDEM3;Func=intronic;Gene=NM_001319960,NM_025191;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367512.7,ENST00000318130.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2368\x3bName\x3e"326735:AluY(SINE)";avsnp150=rs7525074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.5115;1000g2015aug_all=0.652756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,12:21:99:418,0,338 1 184695571 rs10752941 C T 257.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=-1.031;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDEM3;Func=intronic;Gene=NM_001319960,NM_025191;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367512.7,ENST00000318130.12;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7004;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.5086;1000g2015aug_all=0.648562;esp6500siv2_all=0.5777;ExAC_ALL=0.5334;ExAC_AFR=0.7949;ExAC_AMR=0.4675;ExAC_EAS=0.6806;ExAC_FIN=0.5018;ExAC_NFE=0.4677;ExAC_OTH=0.5404;ExAC_SAS=0.6158;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:286,0,225 1 184760001 rs570441 T C 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.807;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.589;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs570441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.4582;1000g2015aug_all=0.572684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:239,0,308 1 184764410 rs35601690 C T 2028.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.243;DP=146;ExcessHet=3.0103;FS=0.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.067;SOR=0.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=exonic;Gene=NM_052966;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM129A:NM_052966:exon14:c.G2488A:p.G830S;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35601690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=0.084;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0251597;esp6500siv2_all=0.0264;ExAC_ALL=0.0093;ExAC_AFR=0.0743;ExAC_AMR=0.0105;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0034;ExAC_OTH=0.0066;ExAC_SAS=0.0004;SIFT_score=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.058;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=2.98;FATHMM_pred=T;phyloP100way_vertebrate=-0.163;phyloP20way_mammalian=0.845;SiPhy_29way_logOdds=4.880;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,74:146:99:2057,0,1965 1 184765072 rs28927681 A G 1748.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.352;DP=130;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.196;SOR=0.695;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=exonic;Gene=NM_052966;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM129A:NM_052966:exon14:c.T1826C:p.L609P;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28927681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0823;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.0825;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.0908;1000g2015aug_all=0.201877;esp6500siv2_all=0.2031;ExAC_ALL=0.1070;ExAC_AFR=0.4832;ExAC_AMR=0.0552;ExAC_EAS=0.0938;ExAC_FIN=0.0750;ExAC_NFE=0.0681;ExAC_OTH=0.0859;ExAC_SAS=0.0876;SIFT_score=0.463;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=2.93;FATHMM_pred=T;phyloP100way_vertebrate=-0.043;phyloP20way_mammalian=-2.861;SiPhy_29way_logOdds=14.208;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,64:130:99:1777,0,1888 1 184777467 rs338566 A T 320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.191;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-1.239;SOR=0.653;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=intronic;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs338566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.3775;1000g2015aug_all=0.46246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,13:42:99:349,0,949 1 184779915 rs556163 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=intronic;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2655\x3bName\x3e"326942:MER57A1(LTR)";avsnp150=rs556163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.834;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.7478;1000g2015aug_all=0.783147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 184780131 rs4011650 G C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=1.174;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=intronic;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4341\x3bName\x3e"326943:MER57-int(LTR)";avsnp150=rs4011650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.6115;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.3487;1000g2015aug_amr=0.6254;1000g2015aug_all=0.539736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:146,0,146 1 184801065 rs487675 T C 785.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.776;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=-1.546;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=exonic;Gene=NM_052966;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FAM129A:NM_052966:exon6:c.A633G:p.Q211Q;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs487675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.2363;1000g2015aug_all=0.283746;esp6500siv2_all=0.3493;ExAC_ALL=0.2969;ExAC_AFR=0.3712;ExAC_AMR=0.1719;ExAC_EAS=0.1674;ExAC_FIN=0.2954;ExAC_NFE=0.3244;ExAC_OTH=0.2974;ExAC_SAS=0.2949;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,28:39:99:814,0,308 1 184853639 rs111912113 A G 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.033;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=intronic;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2118\x3bName\x3e"327069:AluSx3(SINE)";avsnp150=rs111912113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.0504;1000g2015aug_all=0.053115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:310,0,477 1 184854724 rs112635500 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=intronic;Gene=NM_052966;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112635500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0427316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 184863330 rs78908040 G A 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.892;DP=38;ExcessHet=3.0103;FS=2.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.936;SOR=0.324;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM129A;Func=exonic;Gene=NM_052966;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM129A:NM_052966:exon3:c.C197T:p.A66V;Gencode=Name\x3eENST00000367511.3;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78908040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0129;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00519169;esp6500siv2_all=0.0114;ExAC_ALL=0.0120;ExAC_AFR=0.0032;ExAC_AMR=0.0075;ExAC_EAS=0;ExAC_FIN=0.0188;ExAC_NFE=0.0178;ExAC_OTH=0.0069;ExAC_SAS=0.0002;SIFT_score=0.081;SIFT_pred=T;Polyphen2_HDIV_score=0.104;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.064;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=2.89;FATHMM_pred=T;phyloP100way_vertebrate=2.458;phyloP20way_mammalian=-0.227;SiPhy_29way_logOdds=10.100;gerp++gt2=4.09;CADD=3.954;CADD_Phred=23.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:483,0,467 1 185119794 rs1544051 C T 338.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.23;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRMT1L;Func=intronic;Gene=NM_001202423,NM_030934;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367506.9;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1544051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.999002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:367,36,0 1 185159620 rs747857458 A C 241.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.603;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.799;SOR=1.038;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSWT1;Func=intronic;Gene=NM_001105518,NM_017673;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367501.7,ENST00000367500.8;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs747857458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:270,0,365 1 185245948 rs116096037 C T 62.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.489;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.48;ReadPosRankSum=0;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSWT1;Func=intronic;Gene=NM_001105518,NM_017673;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367500.8,ENST00000367501.7;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e314\x3bName\x3e"327844:L1ME3F(LINE)";avsnp150=rs116096037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.013;1000g2015aug_all=0.00479233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:91:91,0,347 1 185319333 rs12736396 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038424,NR_110793;GeneDetail=dist\x3e15162\x3bdist\x3e208179;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12736396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1728;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.146;1000g2015aug_amr=0.1729;1000g2015aug_all=0.121805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 185570693 rs6665025 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01350;Func=ncRNA_intronic;Gene=NR_110793;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q25.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2646\x3bName\x3e"328404:MLT2B3(LTR)";avsnp150=rs6665025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.3112;1000g2015aug_all=0.434704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 185833565 rs7556537 A C 416.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.4438;1000g2015aug_all=0.610024;esp6500siv2_all=0.5928;ExAC_ALL=0.4982;ExAC_AFR=0.8943;ExAC_AMR=0.3606;ExAC_EAS=0.5005;ExAC_FIN=0.4665;ExAC_NFE=0.4495;ExAC_OTH=0.5055;ExAC_SAS=0.5521;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:445,36,0 1 185984517 rs6665753 T C 1360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.406;DP=108;ExcessHet=3.0103;FS=3.749;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.029;SOR=1.084;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HMCN1:NM_031935:exon31:c.T4857C:p.H1619H;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665753;cosmic70=.;CLNALLELEID=277933;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.4781;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.4337;1000g2015aug_all=0.343051;esp6500siv2_all=0.3464;ExAC_ALL=0.4271;ExAC_AFR=0.0950;ExAC_AMR=0.4796;ExAC_EAS=0.3851;ExAC_FIN=0.4932;ExAC_NFE=0.4668;ExAC_OTH=0.4035;ExAC_SAS=0.4342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,50:108:99:1389,0,1521 1 185985931 rs980947 C G 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=0.414;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs980947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4206;1000g2015aug_sas=0.4213;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.174;1000g2015aug_amr=0.4467;1000g2015aug_all=0.367612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:181,0,101 1 185987211 rs940356494 G T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.484;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs940356494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:92:146,0,92 1 186022032 rs10911808 T G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.5409;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.9546;1000g2015aug_amr=0.6657;1000g2015aug_all=0.67472;esp6500siv2_all=0.6373;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 186026167 rs201168043 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e42\x3bName\x3e"329144:(CA)n(Simple_repeat)";avsnp150=rs201168043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 186026474 rs12129650 T C 980.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.65;DP=84;ExcessHet=3.0103;FS=5.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=1.893;SOR=1.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HMCN1:NM_031935:exon46:c.T7253C:p.I2418T;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129650;cosmic70=.;CLNALLELEID=277951;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.455;1000g2015aug_eur=0.496;1000g2015aug_afr=0.5393;1000g2015aug_amr=0.6124;1000g2015aug_all=0.529952;esp6500siv2_all=0.5254;ExAC_ALL=0.5389;ExAC_AFR=0.5490;ExAC_AMR=0.6826;ExAC_EAS=0.6098;ExAC_FIN=0.4932;ExAC_NFE=0.5164;ExAC_OTH=0.5419;ExAC_SAS=0.5047;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.918;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.446;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.595;MutationAssessor_pred=M;FATHMM_score=-0.64;FATHMM_pred=T;phyloP100way_vertebrate=5.826;phyloP20way_mammalian=0.144;SiPhy_29way_logOdds=11.765;gerp++gt2=4.67;CADD=3.144;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,37:84:99:1009,0,1243 1 186030902 rs10737266 G T 536.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.232;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.43;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.6441;1000g2015aug_all=0.629992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,19:42:99:565,0,698 1 186031041 rs7522627 C T 823.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.274;DP=89;ExcessHet=3.0103;FS=1.829;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.319;SOR=0.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HMCN1:NM_031935:exon47:c.C7371T:p.C2457C;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522627;cosmic70=.;CLNALLELEID=278860;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.647;1000g2015aug_all=0.654353;esp6500siv2_all=0.6284;ExAC_ALL=0.5980;ExAC_AFR=0.8111;ExAC_AMR=0.7037;ExAC_EAS=0.6340;ExAC_FIN=0.5278;ExAC_NFE=0.5416;ExAC_OTH=0.6173;ExAC_SAS=0.6257;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,35:89:99:852,0,1431 1 186039006 rs761905 C T 217.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-1.128;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs761905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.504;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.6585;1000g2015aug_all=0.651358;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:246,0,250 1 186040062 rs10911811 G C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.505;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.6585;1000g2015aug_all=0.652157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 186045615 rs199920138 G C 521.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.333;DP=41;ExcessHet=3.0103;FS=4.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.887;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HMCN1:NM_031935:exon54:c.G8346C:p.R2782S;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs199920138;cosmic70=.;CLNALLELEID=277969;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=7.7e-05;ExAC_ALL=0.0001;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.186;SIFT_pred=T;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.972;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.39;MutationAssessor_pred=N;FATHMM_score=-0.2;FATHMM_pred=T;phyloP100way_vertebrate=0.272;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=7.439;gerp++gt2=.;CADD=3.140;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,21:41:99:550,0,496 1 186050417 rs10798035 A G 684.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.273;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.096;SOR=0.789;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HMCN1:NM_031935:exon56:c.A8678G:p.E2893G;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10798035;cosmic70=.;CLNALLELEID=102102;CLNDN=Macular_degeneration|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.4959;1000g2015aug_eur=0.499;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.6311;1000g2015aug_all=0.582668;esp6500siv2_all=0.5550;ExAC_ALL=0.5453;ExAC_AFR=0.6683;ExAC_AMR=0.6735;ExAC_EAS=0.6124;ExAC_FIN=0.5227;ExAC_NFE=0.5048;ExAC_OTH=0.5232;ExAC_SAS=0.5167;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.02;MutationAssessor_pred=M;FATHMM_score=1.54;FATHMM_pred=T;phyloP100way_vertebrate=8.853;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=14.816;gerp++gt2=5.86;CADD=6.838;CADD_Phred=33;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,30:63:99:713,0,831 1 186055371 rs6425017 A G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.82;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.506;SOR=0.454;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425017;cosmic70=.;CLNALLELEID=278898;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.544;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.6599;1000g2015aug_all=0.661342;esp6500siv2_all=0.6281;ExAC_ALL=0.5783;ExAC_AFR=0.8656;ExAC_AMR=0.6883;ExAC_EAS=0.6201;ExAC_FIN=0.5375;ExAC_NFE=0.5191;ExAC_OTH=0.5727;ExAC_SAS=0.5546;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:331,0,366 1 186057181 rs10911816 T C 829.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.182;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.202;SOR=0.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.59;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.969;1000g2015aug_amr=0.6686;1000g2015aug_all=0.686502;esp6500siv2_all=0.6391;ExAC_ALL=0.5898;ExAC_AFR=0.9042;ExAC_AMR=0.6908;ExAC_EAS=0.6411;ExAC_FIN=0.5387;ExAC_NFE=0.5199;ExAC_OTH=0.5787;ExAC_SAS=0.5978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,39:92:99:858,0,1472 1 186064760 rs1022671 A T 62.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.511;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1022671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.6599;1000g2015aug_all=0.660743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:91:91,0,252 1 186064781 rs2180480 A T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-1.718;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2180480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.499;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.6513;1000g2015aug_all=0.653355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:95:95,0,134 1 186076291 rs6701244 C T 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.231;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1654\x3bName\x3e"329215:AluY(SINE)";avsnp150=rs6701244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.4781;1000g2015aug_afr=0.584;1000g2015aug_amr=0.6167;1000g2015aug_all=0.53774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 186077463 rs1555495 A G 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=-0.435;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.501;1000g2015aug_eur=0.497;1000g2015aug_afr=0.8737;1000g2015aug_amr=0.6441;1000g2015aug_all=0.633187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:370,0,202 1 186081918 rs7555520 C T 762.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.404;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.086;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.59;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.969;1000g2015aug_amr=0.6715;1000g2015aug_all=0.686102;esp6500siv2_all=0.6386;ExAC_ALL=0.5854;ExAC_AFR=0.9046;ExAC_AMR=0.6886;ExAC_EAS=0.6346;ExAC_FIN=0.5349;ExAC_NFE=0.5148;ExAC_OTH=0.5743;ExAC_SAS=0.5921;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,28:58:99:791,0,826 1 186086578 rs10157742 G A 696.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.218;DP=60;ExcessHet=3.0103;FS=2.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.164;SOR=1.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"329232:(TTG)n(Simple_repeat)";avsnp150=rs10157742;cosmic70=.;CLNALLELEID=279089;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.547;1000g2015aug_eur=0.503;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.67;1000g2015aug_all=0.675519;esp6500siv2_all=0.6326;ExAC_ALL=0.5757;ExAC_AFR=0.9009;ExAC_AMR=0.6848;ExAC_EAS=0.6389;ExAC_FIN=0.5384;ExAC_NFE=0.5085;ExAC_OTH=0.5664;ExAC_SAS=0.5487;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,26:60:99:725,0,1041 1 186089072 rs2891230 G A 785.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.332;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.946;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2891230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.4942;1000g2015aug_all=0.377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,26:57:99:814,0,807 1 186089112 rs2383434 T C 822.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.498;DP=73;ExcessHet=3.0103;FS=1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.545;SOR=0.979;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2383434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.5772;1000g2015aug_amr=0.513;1000g2015aug_all=0.472045;esp6500siv2_all=0.3749;ExAC_ALL=0.4068;ExAC_AFR=0.5412;ExAC_AMR=0.5962;ExAC_EAS=0.5523;ExAC_FIN=0.3867;ExAC_NFE=0.3351;ExAC_OTH=0.3980;ExAC_SAS=0.4142;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,38:73:99:860,0,972 1 186089363 rs10752962 C A 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.691;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.541;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10752962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5144;1000g2015aug_all=0.467851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:168,0,215 1 186092076 rs2057388 A C 1101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.097;DP=69;ExcessHet=3.0103;FS=1.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.975;SOR=0.478;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2057388;cosmic70=.;CLNALLELEID=278017;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.5153;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.885;1000g2015aug_amr=0.5663;1000g2015aug_all=0.599441;esp6500siv2_all=0.5091;ExAC_ALL=0.4716;ExAC_AFR=0.8132;ExAC_AMR=0.6265;ExAC_EAS=0.6131;ExAC_FIN=0.4101;ExAC_NFE=0.3677;ExAC_OTH=0.4570;ExAC_SAS=0.518;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,37:69:99:1130,0,959 1 186092540 rs6698064 A G 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.7723;1000g2015aug_amr=0.5519;1000g2015aug_all=0.55631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 186095070 rs12124204 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12124204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.5461;1000g2015aug_all=0.544728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 186101539 rs10911825 A G 134.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.954;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-0.936;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HMCN1:NM_031935:exon86:c.A13310G:p.Q4437R;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911825;cosmic70=.;CLNALLELEID=278022;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.6498;1000g2015aug_amr=0.4841;1000g2015aug_all=0.484425;esp6500siv2_all=0.3700;ExAC_ALL=0.4082;ExAC_AFR=0.6123;ExAC_AMR=0.6155;ExAC_EAS=0.6292;ExAC_FIN=0.3781;ExAC_NFE=0.3052;ExAC_OTH=0.3928;ExAC_SAS=0.4190;SIFT_score=0.352;SIFT_pred=T;Polyphen2_HDIV_score=0.735;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.46;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.65;MutationAssessor_pred=N;FATHMM_score=1.58;FATHMM_pred=T;phyloP100way_vertebrate=8.497;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=15.664;gerp++gt2=5.37;CADD=4.657;CADD_Phred=24.5;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:163,0,421 1 186113931 rs3737941 T G 902.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.439;DP=65;ExcessHet=3.0103;FS=2.293;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.041;SOR=0.416;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.3814;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.531;1000g2015aug_amr=0.4712;1000g2015aug_all=0.442292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,33:64:99:931,0,967 1 186114325 rs1322374 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e280\x3bName\x3e"329260:L2c(LINE)";avsnp150=rs1322374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.4611;1000g2015aug_all=0.439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 186114441 rs12133166 G T 788.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.416;DP=52;ExcessHet=3.0103;FS=3.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.284;SOR=0.261;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0953;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0888578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,27:52:99:817,0,817 1 186115213 rs538776249 A T 210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.515;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.513;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs538776249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:239,0,435 1 186135236 rs6425021 G A 525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.853;DP=42;ExcessHet=3.0103;FS=1.464;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.302;SOR=0.4;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6425021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.2046;1000g2015aug_all=0.302915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,20:42:99:554,0,657 1 186135989 rs142456335 C T 1104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.67;DP=85;ExcessHet=3.0103;FS=1.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.075;SOR=0.469;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=exonic;Gene=NM_031935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HMCN1:NM_031935:exon100:c.C15489T:p.D5163D;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142456335;cosmic70=.;CLNALLELEID=279157;CLNDN=Macular_degeneration;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.000599042;esp6500siv2_all=0.0015;ExAC_ALL=0.0009;ExAC_AFR=0.0006;ExAC_AMR=0.0014;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0013;ExAC_OTH=0.0033;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,46:85:99:1133,0,1136 1 186136195 rs545048421 G A 357.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.069;DP=46;ExcessHet=3.0103;FS=1.509;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=-0.879;SOR=0.349;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs545048421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,15:46:99:386,0,952 1 186136289 rs7549613 T C 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.483;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.141;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0972;1000g2015aug_sas=0.319;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.525;1000g2015aug_amr=0.2392;1000g2015aug_all=0.328674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:261,0,136 1 186140907 rs11582026 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11582026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.319;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.2363;1000g2015aug_all=0.315695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 186141301 rs4651302 G A 1297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.616;DP=107;ExcessHet=3.0103;FS=5.063;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.721;SOR=0.351;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4651302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.544;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.6196;1000g2015aug_all=0.655551;esp6500siv2_all=0.5899;ExAC_ALL=0.5409;ExAC_AFR=0.8821;ExAC_AMR=0.6685;ExAC_EAS=0.6255;ExAC_FIN=0.5021;ExAC_NFE=0.4531;ExAC_OTH=0.5419;ExAC_SAS=0.5630;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,50:107:99:1326,0,1609 1 186151493 rs16825040 C G 398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.962;DP=30;ExcessHet=3.0103;FS=1.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.645;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16825040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0923;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.1787;1000g2015aug_all=0.228435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:427,0,443 1 186157184 rs1008840 T G 826.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.063;DP=57;ExcessHet=3.0103;FS=1.241;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-2.054;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHMCN1;Func=intronic;Gene=NM_031935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271588.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1008840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0992;1000g2015aug_sas=0.0828;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.1499;1000g2015aug_all=0.128794;esp6500siv2_all=0.1149;ExAC_ALL=0.1077;ExAC_AFR=0.1862;ExAC_AMR=0.2531;ExAC_EAS=0.0998;ExAC_FIN=0.1030;ExAC_NFE=0.0771;ExAC_OTH=0.1002;ExAC_SAS=0.0868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,27:57:99:855,0,812 1 186265948 rs1293987 T A 199.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.834;DP=20;ExcessHet=3.0103;FS=4.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.969;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=intronic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367483.8,ENST00000445192.6,ENST00000367485.4;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1293987;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9315;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.5562;1000g2015aug_all=0.723243;esp6500siv2_all=0.5813;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:228,0,339 1 186270894 rs1547084 A G 723.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.15;DP=37;ExcessHet=3.0103;FS=1.52;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.56;ReadPosRankSum=0.39;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=intronic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445192.6,ENST00000367483.8,ENST00000367485.4;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1547084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.4063;1000g2015aug_all=0.232029;esp6500siv2_all=0.2987;ExAC_ALL=0.3051;ExAC_AFR=0.1779;ExAC_AMR=0.4383;ExAC_EAS=0.1401;ExAC_FIN=0.2947;ExAC_NFE=0.3432;ExAC_OTH=0.3062;ExAC_SAS=0.2286;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,28:37:99:752,0,163 1 186273994 rs2273779 C T 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.765;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.109;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=exonic;Gene=NM_001127708,NM_005807;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRG4:NM_001127708:exon5:c.C415T:p.R139W,PRG4:NM_005807:exon6:c.C538T:p.R180W;Gencode=Name\x3eENST00000445192.6,ENST00000367483.8,ENST00000367485.4;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273779;cosmic70=.;CLNALLELEID=508763;CLNDN=Camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome;CLNDISDB=MedGen:C1859690,OMIM:208250,Orphanet:ORPHA2848;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.33;1000g2015aug_afr=0.149;1000g2015aug_amr=0.4063;1000g2015aug_all=0.231629;esp6500siv2_all=0.2965;ExAC_ALL=0.3050;ExAC_AFR=0.1778;ExAC_AMR=0.4380;ExAC_EAS=0.1392;ExAC_FIN=0.2955;ExAC_NFE=0.3424;ExAC_OTH=0.3029;ExAC_SAS=0.2284;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.949;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.329;Polyphen2_HVAR_pred=B;LRT_score=0.033;LRT_pred=U;MutationTaster_score=0.973;MutationTaster_pred=P;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=0.74;FATHMM_pred=T;phyloP100way_vertebrate=1.582;phyloP20way_mammalian=0.852;SiPhy_29way_logOdds=9.740;gerp++gt2=4.26;CADD=5.123;CADD_Phred=25.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:203,0,184 1 186275564 rs12128607 C T 405.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.118;DP=40;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.566;SOR=1.035;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=exonic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRG4:NM_001127710:exon4:c.C311T:p.T104M,PRG4:NM_001127709:exon5:c.C434T:p.T145M,PRG4:NM_001127708:exon6:c.C590T:p.T197M,PRG4:NM_001303232:exon6:c.C584T:p.T195M,PRG4:NM_005807:exon7:c.C713T:p.T238M;Gencode=Name\x3eENST00000367485.4,ENST00000367483.8,ENST00000445192.6;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0429;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.013;1000g2015aug_all=0.0217652;esp6500siv2_all=0.0370;ExAC_ALL=0.0381;ExAC_AFR=0.0201;ExAC_AMR=0.0111;ExAC_EAS=0.0005;ExAC_FIN=0.0676;ExAC_NFE=0.0455;ExAC_OTH=0.0430;ExAC_SAS=0.0461;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=0.132;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.89;FATHMM_pred=T;phyloP100way_vertebrate=-4.048;phyloP20way_mammalian=-1.755;SiPhy_29way_logOdds=7.216;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:434,0,644 1 186276661 rs61831150 A G 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.612;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.618;SOR=1.075;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=exonic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRG4:NM_001127710:exon4:c.A1408G:p.T470A,PRG4:NM_001127709:exon5:c.A1531G:p.T511A,PRG4:NM_001127708:exon6:c.A1687G:p.T563A,PRG4:NM_001303232:exon6:c.A1681G:p.T561A,PRG4:NM_005807:exon7:c.A1810G:p.T604A;Gencode=Name\x3eENST00000367483.8,ENST00000445192.6,ENST00000367485.4;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61831150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.226;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.4078;1000g2015aug_all=0.229433;esp6500siv2_all=0.2970;ExAC_ALL=0.3053;ExAC_AFR=0.1747;ExAC_AMR=0.4411;ExAC_EAS=0.1369;ExAC_FIN=0.2947;ExAC_NFE=0.3436;ExAC_OTH=0.3027;ExAC_SAS=0.2298;SIFT_score=0.47;SIFT_pred=T;Polyphen2_HDIV_score=0.021;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.077;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.24;MutationAssessor_pred=L;FATHMM_score=3.46;FATHMM_pred=T;phyloP100way_vertebrate=-1.113;phyloP20way_mammalian=-0.022;SiPhy_29way_logOdds=2.033;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:310,0,321 1 186277989 rs3737940 A G 234.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.3;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.34;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRG4;Func=exonic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PRG4:NM_001127710:exon4:c.A2736G:p.P912P,PRG4:NM_001127709:exon5:c.A2859G:p.P953P,PRG4:NM_001127708:exon6:c.A3015G:p.P1005P,PRG4:NM_001303232:exon6:c.A3009G:p.P1003P,PRG4:NM_005807:exon7:c.A3138G:p.P1046P;Gencode=Name\x3eENST00000367483.8,ENST00000445192.6,ENST00000367485.4;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737940;cosmic70=.;CLNALLELEID=508765;CLNDN=Camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome;CLNDISDB=MedGen:C1859690,OMIM:208250,Orphanet:ORPHA2848;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.402;1000g2015aug_all=0.221246;esp6500siv2_all=0.2846;ExAC_ALL=0.3016;ExAC_AFR=0.1428;ExAC_AMR=0.4371;ExAC_EAS=0.1358;ExAC_FIN=0.2948;ExAC_NFE=0.3429;ExAC_OTH=0.3020;ExAC_SAS=0.2288;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:263,0,324 1 186281400 rs12134934 C T 1417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.667;DP=107;ExcessHet=3.0103;FS=0.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.349;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR,PRG4;Func=exonic;Gene=NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PRG4:NM_001127710:exon8:c.C3485T:p.T1162M,PRG4:NM_001127709:exon9:c.C3608T:p.T1203M,PRG4:NM_001127708:exon10:c.C3764T:p.T1255M,PRG4:NM_001303232:exon10:c.C3758T:p.T1253M,PRG4:NM_005807:exon11:c.C3887T:p.T1296M;Gencode=Name\x3eENST00000367478.8,ENST00000367485.4,ENST00000367483.8,ENST00000445192.6;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.013;1000g2015aug_all=0.0305511;esp6500siv2_all=0.0454;ExAC_ALL=0.0404;ExAC_AFR=0.0454;ExAC_AMR=0.0119;ExAC_EAS=0.0008;ExAC_FIN=0.0677;ExAC_NFE=0.0454;ExAC_OTH=0.0441;ExAC_SAS=0.0462;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.57;Polyphen2_HVAR_pred=P;LRT_score=0.248;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.25;MutationAssessor_pred=L;FATHMM_score=3.56;FATHMM_pred=T;phyloP100way_vertebrate=-0.670;phyloP20way_mammalian=-0.013;SiPhy_29way_logOdds=9.351;gerp++gt2=.;CADD=2.012;CADD_Phred=16.29;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,57:107:99:1446,0,1278 1 186281696 rs7756 T G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR,PRG4;Func=UTR3;Gene=NM_003292;GeneDetail=NM_003292:c.*1407A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8,ENST00000367485.4,ENST00000367483.8,ENST00000445192.6;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.6023;1000g2015aug_all=0.60623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 186291512 rs10911846 T C 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.586;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=0.683;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=exonic;Gene=NM_003292;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TPR:NM_003292:exon45:c.A6399G:p.T2133T;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10911846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.013;1000g2015aug_all=0.0301518;esp6500siv2_all=0.0446;ExAC_ALL=0.0411;ExAC_AFR=0.0459;ExAC_AMR=0.0121;ExAC_EAS=0.0005;ExAC_FIN=0.0683;ExAC_NFE=0.0464;ExAC_OTH=0.0449;ExAC_SAS=0.0471;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,9:34:99:240,0,635 1 186296926 rs11582844 T C 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2001\x3bName\x3e"329553:AluSq2(SINE)";avsnp150=rs11582844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.143;1000g2015aug_amr=0.3732;1000g2015aug_all=0.21865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:45:101,0,45 1 186300843 . A C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 186301447 rs7526540 T C 467.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.547;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.117;SOR=0.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=exonic;Gene=NM_003292;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TPR:NM_003292:exon38:c.A5484G:p.P1828P;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.044;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.013;1000g2015aug_all=0.0301518;esp6500siv2_all=0.0451;ExAC_ALL=0.0404;ExAC_AFR=0.0456;ExAC_AMR=0.0119;ExAC_EAS=0.0005;ExAC_FIN=0.0679;ExAC_NFE=0.0455;ExAC_OTH=0.0447;ExAC_SAS=0.0463;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,20:41:99:496,0,618 1 186305914 rs12085497 A C 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.547;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12085497;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.4006;1000g2015aug_all=0.221246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:244,0,173 1 186312913 rs3753567 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.4078;1000g2015aug_all=0.235823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 186313249 rs2950829 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2950829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9135;1000g2015aug_all=0.971246;esp6500siv2_all=0.9783;ExAC_ALL=0.9759;ExAC_AFR=0.9691;ExAC_AMR=0.9105;ExAC_EAS=0.9768;ExAC_FIN=0.9905;ExAC_NFE=0.9825;ExAC_OTH=0.9670;ExAC_SAS=0.9933;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 186316656 rs3753564 G C 160.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.573;DP=11;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=1.693;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.329;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.4063;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:189,0,103 1 186321242 rs61744267 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.803;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=exonic;Gene=NM_003292;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TPR:NM_003292:exon19:c.G2335A:p.V779I;Gencode=Name\x3eENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61744267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.121;1000g2015aug_all=0.0870607;esp6500siv2_all=0.1412;ExAC_ALL=0.1333;ExAC_AFR=0.0440;ExAC_AMR=0.0718;ExAC_EAS=0.0725;ExAC_FIN=0.1618;ExAC_NFE=0.1760;ExAC_OTH=0.1374;ExAC_SAS=0.0772;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.437;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.91;MutationAssessor_pred=L;FATHMM_score=1.83;FATHMM_pred=T;phyloP100way_vertebrate=5.214;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=19.544;gerp++gt2=5.75;CADD=3.412;CADD_Phred=23.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,243 1 186326867 rs3124812 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000613151.1,ENST00000367478.8;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3124812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.046;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.013;1000g2015aug_all=0.0305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 186329869 rs2026187 C G 94.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.431;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8,ENST00000613151.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2026187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.5879;1000g2015aug_all=0.56869;esp6500siv2_all=0.6001;ExAC_ALL=0.5828;ExAC_AFR=0.5690;ExAC_AMR=0.5710;ExAC_EAS=0.6607;ExAC_FIN=0.5992;ExAC_NFE=0.5969;ExAC_OTH=0.5824;ExAC_SAS=0.4950;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:123,0,24 1 186330643 rs10494586 T C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.732;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTPR;Func=intronic;Gene=NM_003292;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367478.8,ENST00000613151.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.528;1000g2015aug_amr=0.5836;1000g2015aug_all=0.561302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 186352347 rs4651309 A T 610.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.059;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=1.188;SOR=0.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf27;Func=intronic;Gene=NM_001164245,NM_001164246,NM_017847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419367.7,ENST00000287859.10,ENST00000367470.7,ENST00000432021.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e213\x3bName\x3e"329612:L2(LINE)";avsnp150=rs4651309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.4078;1000g2015aug_all=0.231829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,21:34:99:639,0,307 1 186357523 rs1290390 T C 517.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf27;Func=intronic;Gene=NM_001164245,NM_001164246,NM_017847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419367.7,ENST00000432021.3,ENST00000287859.10,ENST00000367470.7;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1290390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9135;1000g2015aug_all=0.977436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:546,45,0 1 186359750 rs3115752 G A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf27;Func=intronic;Gene=NM_001164245,NM_001164246,NM_017847;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419367.7,ENST00000367470.7,ENST00000287859.10,ENST00000432021.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3115752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.0696;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.0259;1000g2015aug_all=0.033147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 186363119 rs12084264 C G 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.618;DP=17;ExcessHet=3.0103;FS=1.957;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.47;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf27;Func=exonic;Gene=NM_001164246,NM_017847;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf27:NM_001164246:exon8:c.C656G:p.S219C,C1orf27:NM_017847:exon9:c.C752G:p.S251C;Gencode=Name\x3eENST00000432021.3,ENST00000287859.10,ENST00000367470.7,ENST00000419367.7;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12084264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.335;1000g2015aug_afr=0.149;1000g2015aug_amr=0.4078;1000g2015aug_all=0.232428;esp6500siv2_all=0.2733;ExAC_ALL=0.2864;ExAC_AFR=0.1825;ExAC_AMR=0.3937;ExAC_EAS=0.1078;ExAC_FIN=0.2925;ExAC_NFE=0.3561;ExAC_OTH=0.2863;ExAC_SAS=0.2384;SIFT_score=0.165;SIFT_pred=T;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.717;Polyphen2_HVAR_pred=P;LRT_score=0.145;LRT_pred=N;MutationTaster_score=0.961;MutationTaster_pred=P;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=0.87;FATHMM_pred=T;phyloP100way_vertebrate=0.095;phyloP20way_mammalian=-0.017;SiPhy_29way_logOdds=6.588;gerp++gt2=3.43;CADD=2.075;CADD_Phred=16.69;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:223,0,215 1 186648197 rs5277 C G 328.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.853;DP=28;ExcessHet=3.0103;FS=8.159;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.369;SOR=0.069;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGS2;Func=exonic;Gene=NM_000963;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PTGS2:NM_000963:exon3:c.G306C:p.V102V;Gencode=Name\x3eENST00000367468.9;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1095;1000g2015aug_all=0.0758786;esp6500siv2_all=0.1149;ExAC_ALL=0.1207;ExAC_AFR=0.0326;ExAC_AMR=0.0667;ExAC_EAS=0.0387;ExAC_FIN=0.1779;ExAC_NFE=0.1586;ExAC_OTH=0.1392;ExAC_SAS=0.0796;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,13:28:99:357,0,507 1 186649221 rs2745557 A G 1567.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTGS2;Func=intronic;Gene=NM_000963;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367468.9;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e352\x3bName\x3e"330153:MIRb(SINE)";avsnp150=rs2745557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.8862;1000g2015aug_all=0.854034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1596,144,0 1 186677387 rs12144220 G T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125801,NM_024420;GeneDetail=dist\x3e26809\x3bdist\x3e120645;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e742\x3bName\x3e"330209:L1M5(LINE)";avsnp150=rs12144220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0351438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 186733129 rs988905 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125801,NM_024420;GeneDetail=dist\x3e82551\x3bdist\x3e64903;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e984\x3bName\x3e"330299:L2a(LINE)";avsnp150=rs988905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.8691;1000g2015aug_amr=0.9798;1000g2015aug_all=0.9377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 186839861 rs7547993 G A 598.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.426;DP=59;ExcessHet=3.0103;FS=0.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.978;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0714;1000g2015aug_sas=0.137;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.2305;1000g2015aug_all=0.177516;esp6500siv2_all=.;ExAC_ALL=0.2496;ExAC_AFR=0.2570;ExAC_AMR=0.3406;ExAC_EAS=0.1199;ExAC_FIN=0.25;ExAC_NFE=0.2973;ExAC_OTH=0.2571;ExAC_SAS=0.1579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,26:58:99:627,0,844 1 186901664 rs2024656 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2351\x3bName\x3e"330608:AluSx1(SINE)";avsnp150=rs2024656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.6399;1000g2015aug_amr=0.2104;1000g2015aug_all=0.366014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 186908385 rs2307200 C T 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.485;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=-0.552;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2307200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.1769;1000g2015aug_afr=0.6392;1000g2015aug_amr=0.2104;1000g2015aug_all=0.365815;esp6500siv2_all=0.3145;ExAC_ALL=0.2410;ExAC_AFR=0.5825;ExAC_AMR=0.1375;ExAC_EAS=0.3824;ExAC_FIN=0.1486;ExAC_NFE=0.1884;ExAC_OTH=0.2694;ExAC_SAS=0.2711;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,10:15:96:304,0,96 1 186919732 rs4650709 A T 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.438;DP=33;ExcessHet=3.0103;FS=2.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.198;SOR=0.297;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4650709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,16:33:99:562,0,569 1 186919993 rs969357 G A 797.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.108;DP=42;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-0.881;SOR=0.286;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs969357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,26:42:99:826,0,508 1 186925168 rs5007825 A G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-1.834;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2412\x3bName\x3e"330647:AluSc(SINE)";avsnp150=rs5007825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 186925194 rs5007824 T C 184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.248;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.361;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5007824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.981629;esp6500siv2_all=0.9577;ExAC_ALL=0.9556;ExAC_AFR=0.9881;ExAC_AMR=0.9649;ExAC_EAS=0.9994;ExAC_FIN=0.9341;ExAC_NFE=0.9417;ExAC_OTH=0.9543;ExAC_SAS=0.9710;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:213,0,134 1 186925552 rs2307199 T C 715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.879;DP=43;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-1.15;SOR=1.375;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2307199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9826;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.981629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,24:43:99:744,0,528 1 186925636 rs7547623 T G 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-1.693;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2049\x3bName\x3e"330648:AluJb(SINE)";avsnp150=rs7547623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9683;1000g2015aug_all=0.973243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:215,0,136 1 186934871 rs6695108 G A 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=1.803;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=intronic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9775;1000g2015aug_eur=0.9384;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9755;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:56:227,0,56 1 186946912 rs2307198 G A 540.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.285;DP=45;ExcessHet=3.0103;FS=1.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.59;SOR=0.463;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLA2G4A;Func=exonic;Gene=NM_001311193,NM_024420;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLA2G4A:NM_001311193:exon14:c.G1772A:p.R591K,PLA2G4A:NM_024420:exon16:c.G1952A:p.R651K;Gencode=Name\x3eENST00000367466.3;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2307198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9816;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9841;1000g2015aug_all=0.988219;esp6500siv2_all=0.9856;ExAC_ALL=0.9804;ExAC_AFR=0.9956;ExAC_AMR=0.9759;ExAC_EAS=0.9997;ExAC_FIN=0.9808;ExAC_NFE=0.9764;ExAC_OTH=0.9813;ExAC_SAS=0.9796;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=-2.66;MutationAssessor_pred=N;FATHMM_score=2.94;FATHMM_pred=T;phyloP100way_vertebrate=7.038;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=11.512;gerp++gt2=5.98;CADD=1.772;CADD_Phred=14.82;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,22:45:99:569,0,683 1 187031071 rs71635405 A T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_024420,NR_126347;GeneDetail=dist\x3e72958\x3bdist\x3e30903;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71635405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0775;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 187186372 rs140652783 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC01036;Func=ncRNA_intronic;Gene=NR_126347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458683.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2520\x3bName\x3e"331057:AluY(SINE)";avsnp150=rs140652783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00139776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 187457746 rs10737280 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e11392\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2154\x3bName\x3e"331507:AluSx1(SINE)";avsnp150=rs10737280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.7791;1000g2015aug_amr=0.8674;1000g2015aug_all=0.858027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 187532391 rs1538477 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e86037\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=Score\x3e0.9045\x3bName\x3echr7:76968138;Repeat=.;avsnp150=rs1538477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9977;1000g2015aug_amr=1;1000g2015aug_all=0.999401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 187700856 . A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e254503\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 187756000 rs1548795 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e309647\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"332021:L2c(LINE)";avsnp150=rs1548795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.498;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.3501;1000g2015aug_all=0.46885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 187902212 rs668904 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e455859\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2201\x3bName\x3e"332232:AluSc(SINE)";avsnp150=rs668904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 187902218 rs668900 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NONE;GeneDetail=dist\x3e455865\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2201\x3bName\x3e"332232:AluSc(SINE)";avsnp150=rs668900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188231052 rs6425156 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e784699\x3bdist\x3e1835746;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24055\x3bName\x3e"332754:HERV9N-int(LTR)";avsnp150=rs6425156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.326;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.4524;1000g2015aug_all=0.4375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188302982 rs10912325 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e856629\x3bdist\x3e1763816;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15637\x3bName\x3e"332842:L1MA1(LINE)";avsnp150=rs10912325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.3833;1000g2015aug_all=0.395168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188302983 rs10912326 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e856630\x3bdist\x3e1763815;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15637\x3bName\x3e"332842:L1MA1(LINE)";avsnp150=rs10912326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.3833;1000g2015aug_all=0.395168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188307351 rs34694223 C T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e860998\x3bdist\x3e1759447;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e41116\x3bName\x3e"332844:HERVL-int(LTR)";avsnp150=rs34694223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.3833;1000g2015aug_all=0.394968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 188307404 rs35349623 T G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e861051\x3bdist\x3e1759394;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e41116\x3bName\x3e"332844:HERVL-int(LTR)";avsnp150=rs35349623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.3833;1000g2015aug_all=0.394968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 188324446 rs1489255 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e878093\x3bdist\x3e1742352;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1037\x3bName\x3e"332874:LTR1D(LTR)";avsnp150=rs1489255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.4784;1000g2015aug_all=0.47504;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188324694 rs1489257 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e878341\x3bdist\x3e1742104;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3171\x3bName\x3e"332875:MER52A(LTR)";avsnp150=rs1489257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.4784;1000g2015aug_all=0.47524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 188325031 rs12146004 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e878678\x3bdist\x3e1741767;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3171\x3bName\x3e"332875:MER52A(LTR)";avsnp150=rs12146004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.4784;1000g2015aug_all=0.475639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188325043 rs10912357 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e878690\x3bdist\x3e1741755;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3171\x3bName\x3e"332875:MER52A(LTR)";avsnp150=rs10912357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.8703;1000g2015aug_all=0.826078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188464693 rs7530915 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1018340\x3bdist\x3e1602105;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.4387;1000g2015aug_amr=0.4308;1000g2015aug_all=0.38139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188464694 rs7530916 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1018341\x3bdist\x3e1602104;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.166;1000g2015aug_afr=0.2821;1000g2015aug_amr=0.3127;1000g2015aug_all=0.241214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188464701 rs12026989 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1018348\x3bdist\x3e1602097;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12026989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.4395;1000g2015aug_amr=0.4308;1000g2015aug_all=0.381589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188515143 rs1586058 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1068790\x3bdist\x3e1551655;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2590\x3bName\x3e"333185:MER6A(DNA)";avsnp150=rs1586058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.2925;1000g2015aug_all=0.20008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188515145 rs1586059 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1068792\x3bdist\x3e1551653;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2590\x3bName\x3e"333185:MER6A(DNA)";avsnp150=rs1586059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.5427;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.6225;1000g2015aug_all=0.448682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188541861 rs2312508 A G 62.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1095508\x3bdist\x3e1524937;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4756\x3bName\x3e"333228:HSMAR1(DNA)";avsnp150=rs2312508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.9669;1000g2015aug_all=0.949081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:90,9,0 1 188543806 rs10753059 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1097453\x3bdist\x3e1522992;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e799\x3bName\x3e"333231:MER83A-int(LTR)";avsnp150=rs10753059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.9669;1000g2015aug_all=0.949081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188552608 rs28510578 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1106255\x3bdist\x3e1514190;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e654\x3bName\x3e"333244:MER3(DNA)";avsnp150=rs28510578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8964;1000g2015aug_amr=0.9726;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188552617 rs28582102 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1106264\x3bdist\x3e1514181;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e654\x3bName\x3e"333244:MER3(DNA)";avsnp150=rs28582102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8964;1000g2015aug_amr=0.9726;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 188552640 rs28515509 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1106287\x3bdist\x3e1514158;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e654\x3bName\x3e"333244:MER3(DNA)";avsnp150=rs28515509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8964;1000g2015aug_amr=0.9726;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188552657 rs1609768 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1106304\x3bdist\x3e1514141;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e654\x3bName\x3e"333244:MER3(DNA)";avsnp150=rs1609768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8964;1000g2015aug_amr=0.9726;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188576228 rs7414818 C G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1129875\x3bdist\x3e1490570;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2978\x3bName\x3e"333281:MLT2A1(LTR)";avsnp150=rs7414818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.9986;1000g2015aug_all=0.989217;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 188662582 rs11799684 A G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1216229\x3bdist\x3e1404216;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11799684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7874;1000g2015aug_amr=0.9755;1000g2015aug_all=0.940296;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 188763101 rs61832907 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1316748\x3bdist\x3e1303697;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61832907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.2968;1000g2015aug_all=0.277157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 188763223 rs12022572 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1316870\x3bdist\x3e1303575;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2441\x3bName\x3e"333551:AluSg(SINE)";avsnp150=rs12022572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.3184;1000g2015aug_all=0.287939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 189080040 rs10754041 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1633687\x3bdist\x3e986758;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1699\x3bName\x3e"334063:MER1B(DNA)";avsnp150=rs10754041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.634;1000g2015aug_all=0.616214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 189115837 rs1912909 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_132374,NM_001317188;GeneDetail=dist\x3e1669484\x3bdist\x3e950961;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4289\x3bName\x3e"334125:L1MA6(LINE)";avsnp150=rs1912909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.8238;1000g2015aug_amr=0.6542;1000g2015aug_all=0.626597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 189986499 rs4845159 T A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NM_001317188;GeneDetail=dist\x3eNONE\x3bdist\x3e80298;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2339\x3bName\x3e"335512:L1ME1(LINE)";avsnp150=rs4845159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.6455;1000g2015aug_all=0.702875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 190053878 rs10920476 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NM_001317188;GeneDetail=dist\x3eNONE\x3bdist\x3e12919;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4691\x3bName\x3e"335626:MER61-int(LTR)";avsnp150=rs10920476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.7035;1000g2015aug_amr=0.3559;1000g2015aug_all=0.515375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 190053879 rs10920477 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NONE,NM_001317188;GeneDetail=dist\x3eNONE\x3bdist\x3e12918;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4691\x3bName\x3e"335626:MER61-int(LTR)";avsnp150=rs10920477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.37;1000g2015aug_sas=0.5225;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.3545;1000g2015aug_all=0.513379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 190707580 rs79312575 A T 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.714;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.042;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440704;Func=ncRNA_exonic;Gene=NR_033922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413356.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e642\x3bName\x3e"336661:L2(LINE)";avsnp150=rs79312575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.003;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0207668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,11:18:99:325,0,170 1 190760498 rs500681 T C 511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.435;DP=34;ExcessHet=3.0103;FS=6.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.465;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440704;Func=ncRNA_intronic;Gene=NR_033922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413356.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1622\x3bName\x3e"336743:MER74C(LTR)";avsnp150=rs500681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6845;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.5;1000g2015aug_all=0.555112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:540,0,467 1 190760788 rs16832771 C T 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.805;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440704;Func=ncRNA_intronic;Gene=NR_033922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413356.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e379\x3bName\x3e"336744:LTR78B(LTR)";avsnp150=rs16832771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.2103;1000g2015aug_amr=0.0735;1000g2015aug_all=0.165735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:144,0,145 1 190769033 rs12119860 T C 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.273;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.241;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC440704;Func=ncRNA_exonic;Gene=NR_033922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413356.1;cytoBand=1q31.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1416\x3bName\x3e"336761:L1MC(LINE)";avsnp150=rs12119860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.062;1000g2015aug_all=0.142372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:252,0,240 1 191002845 rs959915 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033922,NR_146892;GeneDetail=dist\x3e232057\x3bdist\x3e187444;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2508\x3bName\x3e"337104:L1PA8A(LINE)";avsnp150=rs959915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.8569;1000g2015aug_eur=0.8082;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.8156;1000g2015aug_all=0.891374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 191115099 rs72740410 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033922,NR_146892;GeneDetail=dist\x3e344311\x3bdist\x3e75190;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=Score\x3e0.920061\x3bName\x3echr16:51645782;Repeat=.;avsnp150=rs72740410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.0676;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0742812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 191115638 rs10753974 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.92;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_033922,NR_146892;GeneDetail=dist\x3e344850\x3bdist\x3e74651;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=Score\x3e0.920061\x3bName\x3echr16:51645782;Repeat=.;avsnp150=rs10753974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.5112;1000g2015aug_eur=0.6292;1000g2015aug_afr=0.6498;1000g2015aug_amr=0.6354;1000g2015aug_all=0.615815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 191808870 rs9427788 A C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146892,NM_130782;GeneDetail=dist\x3e611242\x3bdist\x3e318722;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1098\x3bName\x3e"338361:L1ME2(LINE)";avsnp150=rs9427788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.5537;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.4856;1000g2015aug_all=0.460463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 191834163 rs9427534 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146892,NM_130782;GeneDetail=dist\x3e636535\x3bdist\x3e293429;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432083.1;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16756\x3bName\x3e"338404:L1M1(LINE)";avsnp150=rs9427534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.3026;1000g2015aug_all=0.29393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 192088044 rs7543417 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146892,NM_130782;GeneDetail=dist\x3e890416\x3bdist\x3e39548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.3638;1000g2015aug_amr=0.8285;1000g2015aug_all=0.710463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 192088047 rs12049117 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146892,NM_130782;GeneDetail=dist\x3e890419\x3bdist\x3e39545;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e345\x3bName\x3e"338795:MLT1I(LTR)";avsnp150=rs12049117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0605;1000g2015aug_all=0.142572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 192128183 rs4454527 G A 776.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.56;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS18;Func=intronic;Gene=NM_130782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367460.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4454527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.3888;1000g2015aug_amr=0.7118;1000g2015aug_all=0.647564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:805,66,0 1 192129370 rs4329489 G A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS18;Func=intronic;Gene=NM_130782;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367460.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4329489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.7104;1000g2015aug_all=0.64397;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 192216486 rs1175147 T C 518.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_130782,NM_001039152;GeneDetail=dist\x3e61541\x3bdist\x3e69636;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=Score\x3e0.940895\x3bName\x3echr7:23561989;Repeat=.;avsnp150=rs1175147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.761;1000g2015aug_amr=0.3775;1000g2015aug_all=0.471446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:547,54,0 1 192216818 rs1175145 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_130782,NM_001039152;GeneDetail=dist\x3e61873\x3bdist\x3e69304;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1175145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.761;1000g2015aug_amr=0.3775;1000g2015aug_all=0.471446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 192216848 rs1175144 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_130782,NM_001039152;GeneDetail=dist\x3e61903\x3bdist\x3e69274;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1175144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1627;1000g2015aug_sas=0.4888;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.761;1000g2015aug_amr=0.3775;1000g2015aug_all=0.471446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 192217230 rs1175143 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_130782,NM_001039152;GeneDetail=dist\x3e62285\x3bdist\x3e68892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5024\x3bName\x3e"339011:L1PA10(LINE)";avsnp150=rs1175143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.6702;1000g2015aug_amr=0.353;1000g2015aug_all=0.438299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 192544795 rs2984920 A G 524.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_002922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2984920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8181;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.7651;1000g2015aug_all=0.871206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:553,45,0 1 192545099 rs7535818 G A 275.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.508;DP=20;ExcessHet=3.0103;FS=3.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.19;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS1;Func=intronic;Gene=NM_002922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367459.7,ENST00000469578.2;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6419;1000g2015aug_sas=0.8793;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.6513;1000g2015aug_all=0.629792;esp6500siv2_all=0.6553;ExAC_ALL=0.7459;ExAC_AFR=0.3399;ExAC_AMR=0.5599;ExAC_EAS=0.6394;ExAC_FIN=0.8390;ExAC_NFE=0.8126;ExAC_OTH=0.7721;ExAC_SAS=0.8649;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:304,0,331 1 192547710 rs1923949 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS1;Func=intronic;Gene=NM_002922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469578.2,ENST00000367459.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1923949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.4352;1000g2015aug_all=0.547923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 192548229 rs2816307 G T 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.157;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-0.863;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS1;Func=intronic;Gene=NM_002922;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367459.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2816307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.0634;1000g2015aug_all=0.127596;esp6500siv2_all=0.1403;ExAC_ALL=0.0716;ExAC_AFR=0.3332;ExAC_AMR=0.0331;ExAC_EAS=0;ExAC_FIN=0.0645;ExAC_NFE=0.0507;ExAC_OTH=0.0576;ExAC_SAS=0.0619;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,9:26:99:231,0,500 1 192548543 rs1323291 T G 1250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.517;DP=58;ExcessHet=3.0103;FS=3.962;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-0.821;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS1;Func=UTR3;Gene=NM_002922;GeneDetail=NM_002922:c.*91T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367459.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1323291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.0836;1000g2015aug_all=0.151757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,34:58:99:1279,0,1410 1 192548559 rs2816308 G C 1183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.258;DP=53;ExcessHet=3.0103;FS=4.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=-0.849;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS1;Func=UTR3;Gene=NM_002922;GeneDetail=NM_002922:c.*107G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367459.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2816308;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.0954;1000g2015aug_afr=0.4032;1000g2015aug_amr=0.0836;1000g2015aug_all=0.151558;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,31:53:99:1212,0,1397 1 192779227 rs2746073 T A 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.902;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS2;Func=intronic;Gene=NM_002923;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235382.6;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2746073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.062;1000g2015aug_amr=0.196;1000g2015aug_all=0.250799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,139 1 192991920 rs36034206 T G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.34;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCHL5;Func=intronic;Gene=NM_001199261,NM_001199262,NM_001199263,NM_001350840,NM_001350841,NM_001350842,NM_001350843,NM_001350844,NM_001350845,NM_001350846,NM_001350847,NM_001350848,NM_001350849,NM_001350850,NM_001350851,NM_001350852,NM_015984;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367455.8,ENST00000367454.5,ENST00000367449.5,ENST00000367448.5,ENST00000367451.8;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e348\x3bName\x3e"340278:L1MC5(LINE)";avsnp150=rs36034206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 192991924 rs34849704 A C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCHL5;Func=intronic;Gene=NM_001199261,NM_001199262,NM_001199263,NM_001350840,NM_001350841,NM_001350842,NM_001350843,NM_001350844,NM_001350845,NM_001350846,NM_001350847,NM_001350848,NM_001350849,NM_001350850,NM_001350851,NM_001350852,NM_015984;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367448.5,ENST00000367449.5,ENST00000367454.5,ENST00000367455.8,ENST00000367451.8;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e348\x3bName\x3e"340278:L1MC5(LINE)";avsnp150=rs34849704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 193028121 rs4657842 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUCHL5;Func=intronic;Gene=NM_001199261,NM_001199262,NM_001199263,NM_001350840,NM_001350841,NM_001350842,NM_001350843,NM_001350844,NM_001350845,NM_001350846,NM_001350847,NM_001350848,NM_001350849,NM_001350850,NM_001350851,NM_001350852,NM_015984;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367455.8,ENST00000367454.5,ENST00000367449.5,ENST00000367448.5,ENST00000367451.8;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.7393;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.677;1000g2015aug_amr=0.7003;1000g2015aug_all=0.65595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 193029046 rs41265201 C A 712.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.196;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.3;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTROVE2,UCHL5;Func=exonic;Gene=NM_001350840,NM_001350844;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=UCHL5:NM_001350840:exon1:c.G83T:p.R28L,UCHL5:NM_001350844:exon1:c.G83T:p.R28L;Gencode=Name\x3eENST00000400968.6,ENST00000432079.5;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41265201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0178;ExAC_ALL=0.0182;ExAC_AFR=0.0042;ExAC_AMR=0.0088;ExAC_EAS=0;ExAC_FIN=0.0205;ExAC_NFE=0.0284;ExAC_OTH=0.0078;ExAC_SAS=0.0012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=0.044;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.784;phyloP20way_mammalian=-0.643;SiPhy_29way_logOdds=0.588;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,30:58:99:741,0,759 1 193051685 rs2275444 G A 1397.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTROVE2;Func=intronic;Gene=NM_001042369,NM_001042370,NM_001173524,NM_001173525,NM_001331020,NM_004600;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367443.5,ENST00000400968.6,ENST00000432079.5,ENST00000367446.7,ENST00000367441.1,ENST00000367445.7,ENST00000367444.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.6994;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.5242;1000g2015aug_amr=0.6614;1000g2015aug_all=0.59345;esp6500siv2_all=0.6685;ExAC_ALL=0.6761;ExAC_AFR=0.5266;ExAC_AMR=0.6503;ExAC_EAS=0.4445;ExAC_FIN=0.6511;ExAC_NFE=0.7244;ExAC_OTH=0.6733;ExAC_SAS=0.7184;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1426,120,0 1 193054088 rs72740218 C T 472.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.619;DP=29;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-2.113;SOR=0.707;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTROVE2;Func=UTR3;Gene=NM_001173524,NM_001331020,NM_004600;GeneDetail=NM_001173524:c.*227C>T\x3bNM_001331020:c.*227C>T\x3bNM_004600:c.*227C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367443.5,ENST00000432079.5,ENST00000367444.7,ENST00000367445.7,ENST00000367446.7;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72740218;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0905;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0692;1000g2015aug_all=0.0301518;esp6500siv2_all=.;ExAC_ALL=0.0450;ExAC_AFR=0.0171;ExAC_AMR=0.0876;ExAC_EAS=0.0021;ExAC_FIN=0.0381;ExAC_NFE=0.0800;ExAC_OTH=0.0441;ExAC_SAS=0.0238;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,19:29:99:501,0,236 1 193054154 rs10921309 G A 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.529;DP=31;ExcessHet=3.0103;FS=1.4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-1.088;SOR=0.645;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTROVE2;Func=UTR3;Gene=NM_001173524,NM_001173525,NM_001331020,NM_004600;GeneDetail=NM_001173524:c.*293G>A\x3bNM_001173525:c.*22G>A\x3bNM_001331020:c.*293G>A\x3bNM_004600:c.*293G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367444.7,ENST00000367446.7,ENST00000367445.7,ENST00000432079.5,ENST00000367443.5;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10921309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.3631;1000g2015aug_all=0.292532;esp6500siv2_all=.;ExAC_ALL=0.4162;ExAC_AFR=0.0889;ExAC_AMR=0.3946;ExAC_EAS=0.3820;ExAC_FIN=0.4136;ExAC_NFE=0.4123;ExAC_OTH=0.3786;ExAC_SAS=0.4634;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:351,0,458 1 193074371 rs10801175 A G 437.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLRX2;Func=intronic;Gene=NM_001243399,NM_001319291,NM_016066,NM_197962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367439.7,ENST00000367440.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.816;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.696;1000g2015aug_all=0.681709;esp6500siv2_all=0.7689;ExAC_ALL=0.7072;ExAC_AFR=0.7163;ExAC_AMR=0.6559;ExAC_EAS=0.4456;ExAC_FIN=0.6159;ExAC_NFE=0.7193;ExAC_OTH=0.7;ExAC_SAS=0.8111;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:466,36,0 1 193074651 rs10921310 T A 2042.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLRX2;Func=exonic;Gene=NM_016066;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GLRX2:NM_016066:exon1:c.A118T:p.R40W;Gencode=Name\x3eENST00000367440.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10921310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.8119;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.696;1000g2015aug_all=0.680711;esp6500siv2_all=0.7369;ExAC_ALL=0.7636;ExAC_AFR=0.7564;ExAC_AMR=0.7420;ExAC_EAS=0.5433;ExAC_FIN=0.7193;ExAC_NFE=0.7743;ExAC_OTH=0.7488;ExAC_SAS=0.8331;SIFT_score=0.316;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.38;FATHMM_pred=T;phyloP100way_vertebrate=-0.532;phyloP20way_mammalian=-0.716;SiPhy_29way_logOdds=1.314;gerp++gt2=.;CADD=1.066;CADD_Phred=11.03;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2071,179,0 1 193075108 rs912071 C T 183.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGLRX2;Func=UTR5;Gene=NM_001243399,NM_016066;GeneDetail=NM_001243399:c.-4775G>A\x3bNM_016066:c.-340G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367440.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs912071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.6888;1000g2015aug_all=0.666334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:212,15,0 1 193090865 rs10737621 C A 1881.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.772;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.6167;1000g2015aug_all=0.574681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:1910,183,0 1 193094375 rs4466634 T C 668.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC73;Func=intronic;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367435.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4466634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.5106;1000g2015aug_amr=0.6268;1000g2015aug_all=0.590256;esp6500siv2_all=0.6339;ExAC_ALL=0.6567;ExAC_AFR=0.5266;ExAC_AMR=0.6371;ExAC_EAS=0.4614;ExAC_FIN=0.6164;ExAC_NFE=0.6807;ExAC_OTH=0.6448;ExAC_SAS=0.7709;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:697,63,0 1 193098964 rs10754046 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC73;Func=intronic;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367435.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.6182;1000g2015aug_all=0.573882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 193104827 rs10921318 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC73;Func=intronic;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367435.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"340496:MIR3(SINE)";avsnp150=rs10921318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.773;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.6182;1000g2015aug_all=0.576078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 193161670 rs2182106 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC73;Func=intronic;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367435.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2182106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.818;1000g2015aug_eur=0.6958;1000g2015aug_afr=0.7413;1000g2015aug_amr=0.6945;1000g2015aug_all=0.68151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 193205272 rs3738244 T A 1688.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=2.004;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC73;Func=intronic;Gene=NM_024529;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367435.3;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.647;1000g2015aug_all=0.648363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1717,153,0 1 193648980 rs1410402 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e313897\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448412.2;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e580\x3bName\x3e"341429:L2a(LINE)";avsnp150=rs1410402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.6541;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.6585;1000g2015aug_all=0.60643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 193743606 rs1887189 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e408523\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e411\x3bName\x3e"341571:MLT1I(LTR)";avsnp150=rs1887189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.9481;1000g2015aug_all=0.891573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 193801876 rs1326858 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e466793\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2783\x3bName\x3e"341674:L1PA16(LINE)";avsnp150=rs1326858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 193888079 rs1221284 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e552996\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9377\x3bName\x3e"341797:LTR12C(LTR)";avsnp150=rs1221284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.9914;1000g2015aug_all=0.96885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 193888118 rs476905 T G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e553035\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9377\x3bName\x3e"341797:LTR12C(LTR)";avsnp150=rs476905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9914;1000g2015aug_all=0.970647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 193891320 rs569739 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NONE;GeneDetail=dist\x3e556237\x3bdist\x3eNONE;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2372\x3bName\x3e"341804:MSTA(LTR)";avsnp150=rs569739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7345;1000g2015aug_amr=0.9798;1000g2015aug_all=0.926917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 194158916 rs1982793 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e823833\x3bdist\x3e1855094;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454538.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.92617\x3bName\x3echr9:133019422;Repeat=.;avsnp150=rs1982793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.8818;1000g2015aug_all=0.86242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 194254715 rs7524415 C T 49.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e919632\x3bdist\x3e1759295;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7524415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8323;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.6888;1000g2015aug_all=0.720647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:77,6,0 1 194467812 rs2494147 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e1132729\x3bdist\x3e1546198;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.3701;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.5504;1000g2015aug_all=0.544928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 194488907 rs2494322 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e1153824\x3bdist\x3e1525103;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e509\x3bName\x3e"342730:LTR16A(LTR)";avsnp150=rs2494322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.362;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.5043;1000g2015aug_all=0.453674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 194881960 rs2479672 T G 57.14 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.05;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e1546877\x3bdist\x3e1132050;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e55\x3bName\x3e"343386:(TA)n(Simple_repeat)";avsnp150=rs2479672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 194997643 rs12057770 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e1662560\x3bdist\x3e1016367;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12057770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.5303;1000g2015aug_all=0.434105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 195051194 rs4657956 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125789,NR_146895;GeneDetail=dist\x3e1716111\x3bdist\x3e962816;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4657956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.5274;1000g2015aug_all=0.443091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 196227526 rs977157 A G 1142.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=exonic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNT2:NM_001287819:exon25:c.T2937C:p.D979D,KCNT2:NM_001287820:exon25:c.T2808C:p.D936D,KCNT2:NM_198503:exon26:c.T3009C:p.D1003D;Gencode=Name\x3eENST00000451324.6,ENST00000609185.5,ENST00000367433.9,ENST00000294725.13;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs977157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9561;1000g2015aug_amr=0.9914;1000g2015aug_all=0.98722;esp6500siv2_all=0.9865;ExAC_ALL=0.9961;ExAC_AFR=0.9583;ExAC_AMR=0.9977;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9967;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1171,111,0 1 196242764 rs558895 T G 426.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367433.9,ENST00000294725.13,ENST00000451324.6,ENST00000609185.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs558895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9732;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.8192;1000g2015aug_amr=0.9395;1000g2015aug_all=0.912939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:455,36,0 1 196251522 rs2477357 T C 638.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=1.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367433.9,ENST00000294725.13,ENST00000451324.6,ENST00000609185.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"345487:(AT)n(Simple_repeat)";avsnp150=rs2477357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.8329;1000g2015aug_all=0.715855;esp6500siv2_all=0.7039;ExAC_ALL=0.8495;ExAC_AFR=0.5034;ExAC_AMR=0.8643;ExAC_EAS=0.9617;ExAC_FIN=0.8642;ExAC_NFE=0.8638;ExAC_OTH=0.8610;ExAC_SAS=0.8693;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:65:667,65,0 1 196254970 rs2477360 C T 327.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000609185.5,ENST00000451324.6,ENST00000294725.13,ENST00000367433.9;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.9957;1000g2015aug_all=0.99381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:356,30,0 1 196311513 rs6658788 G A 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=1.47;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367433.9,ENST00000294725.13,ENST00000609185.5,ENST00000451324.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7054;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.4597;1000g2015aug_all=0.434505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:91:262,0,91 1 196398619 rs1538684 T C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=1.434;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367433.9,ENST00000294725.13,ENST00000451324.6,ENST00000609185.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1538684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,217 1 196398974 rs12121250 T A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451324.6,ENST00000609185.5,ENST00000294725.13,ENST00000367433.9;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.6033;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.5202;1000g2015aug_all=0.490615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 196510069 rs10801546 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000451324.6,ENST00000609185.5,ENST00000294725.13,ENST00000367433.9;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2470\x3bName\x3e"345915:AluY(SINE)";avsnp150=rs10801546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9395;1000g2015aug_amr=0.9928;1000g2015aug_all=0.983027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 196510250 rs6678139 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNT2;Func=intronic;Gene=NM_001287819,NM_001287820,NM_198503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367433.9,ENST00000294725.13,ENST00000451324.6,ENST00000609185.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6678139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9928;1000g2015aug_all=0.983227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 196620917 rs3753394 C T 487.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.198;DP=24;ExcessHet=3.0103;FS=4.416;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=0.951;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eComplement_C3_and_C4_levels;1000g2015aug_eas=0.5546;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.2709;1000g2015aug_all=0.26238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,16:24:99:516,0,160 1 196642072 rs551397 C T 507.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.038;DP=48;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.685;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630130.2,ENST00000367429.8,ENST00000359637.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs551397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4067;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.4193;1000g2015aug_all=0.468051;esp6500siv2_all=0.3777;ExAC_ALL=0.3350;ExAC_AFR=0.7199;ExAC_AMR=0.3914;ExAC_EAS=0.4369;ExAC_FIN=0.3091;ExAC_NFE=0.2544;ExAC_OTH=0.3214;ExAC_SAS=0.3309;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,19:48:99:536,0,886 1 196642233 rs800292 G A 1004.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.608;DP=118;ExcessHet=3.0103;FS=0.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.551;SOR=0.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=exonic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I;Gencode=Name\x3eENST00000367429.8,ENST00000630130.2,ENST00000359637.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs800292;cosmic70=.;CLNALLELEID=31589;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Age-related_macular_degeneration_4|Atypical_hemolytic_uremic_syndrome|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C1853147,OMIM:610698|MedGen:C2931788,Orphanet:ORPHA2134|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=Name\x3eCirculating_myeloperoxidase_levels_(serum);1000g2015aug_eas=0.4067;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.7912;1000g2015aug_amr=0.4193;1000g2015aug_all=0.468051;esp6500siv2_all=0.3866;ExAC_ALL=0.3210;ExAC_AFR=0.7168;ExAC_AMR=0.3777;ExAC_EAS=0.4190;ExAC_FIN=0.3030;ExAC_NFE=0.2391;ExAC_OTH=0.3142;ExAC_SAS=0.3185;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.885;MutationAssessor_pred=N;FATHMM_score=-0.09;FATHMM_pred=T;phyloP100way_vertebrate=1.604;phyloP20way_mammalian=0.168;SiPhy_29way_logOdds=7.815;gerp++gt2=5.12;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,42:118:99:1033,0,2083 1 196642980 rs35814900 G A 1127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.106;DP=91;ExcessHet=3.0103;FS=2.91;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-1.135;SOR=0.429;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8,ENST00000630130.2,ENST00000359637.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35814900;cosmic70=.;CLNALLELEID=279186;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0209;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0173;1000g2015aug_all=0.0081869;esp6500siv2_all=0.0144;ExAC_ALL=0.0148;ExAC_AFR=0.0054;ExAC_AMR=0.0133;ExAC_EAS=0.0006;ExAC_FIN=0.0106;ExAC_NFE=0.0199;ExAC_OTH=0.0209;ExAC_SAS=0.0101;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,45:91:99:1156,0,1293 1 196654324 rs1061147 A C 3450.77 PASS AC=2;AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.83;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=exonic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A;Gencode=Name\x3eENST00000359637.2,ENST00000367429.8,ENST00000630130.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061147;cosmic70=.;CLNALLELEID=279197;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=Name\x3eAge-related_macular_degeneration;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.7565;1000g2015aug_all=0.713059;esp6500siv2_all=0.6081;ExAC_ALL=0.6666;ExAC_AFR=0.5734;ExAC_AMR=0.8434;ExAC_EAS=0.9510;ExAC_FIN=0.5557;ExAC_NFE=0.6167;ExAC_OTH=0.6608;ExAC_SAS=0.7003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,107:107:99:3479,319,0 1 196658497 rs482934 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000630130.2,ENST00000367429.8,ENST00000359637.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs482934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.7752;1000g2015aug_all=0.78155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 196658905 rs12029785 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359637.2,ENST00000367429.8,ENST00000630130.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.914044\x3bName\x3echr1:196779148;Repeat=.;avsnp150=rs12029785;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.6377;1000g2015aug_amr=0.7666;1000g2015aug_all=0.733427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 196659237 rs1061170 C T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=exonic;Gene=NM_000186,NM_001014975;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y;Gencode=Name\x3eENST00000359637.2,ENST00000367429.8,ENST00000630130.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.914044\x3bName\x3echr1:196779148;Repeat=.;avsnp150=rs1061170;cosmic70=.;CLNALLELEID=278205;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=Name\x3eAge-related_macular_degeneration_(GA),Age-related_macular_degeneration_(CNV),Age-related_macular_degeneration;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.6377;1000g2015aug_amr=0.7666;1000g2015aug_all=0.733427;esp6500siv2_all=0.6243;ExAC_ALL=0.6721;ExAC_AFR=0.6307;ExAC_AMR=0.8458;ExAC_EAS=0.9506;ExAC_FIN=0.5582;ExAC_NFE=0.6169;ExAC_OTH=0.6589;ExAC_SAS=0.7008;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.03;FATHMM_pred=T;phyloP100way_vertebrate=-8.331;phyloP20way_mammalian=-5.376;SiPhy_29way_logOdds=2.071;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 196671981 rs368465 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e643\x3bName\x3e"346169:PABL_B-int(LTR)";avsnp150=rs368465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.7752;1000g2015aug_all=0.781949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 196671986 rs402056 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.05;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e643\x3bName\x3e"346169:PABL_B-int(LTR)";avsnp150=rs402056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.7117;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.7752;1000g2015aug_all=0.781749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 196682947 rs2274700 G A 1145.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=exonic;Gene=NM_000186;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFH:NM_000186:exon10:c.G1419A:p.A473A;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.915836\x3bName\x3echr1:196882768;Repeat=.;avsnp150=rs2274700;cosmic70=.;CLNALLELEID=279359;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.5389;1000g2015aug_all=0.479034;esp6500siv2_all=0.4262;ExAC_ALL=0.4431;ExAC_AFR=0.4594;ExAC_AMR=0.4518;ExAC_EAS=0.4359;ExAC_FIN=0.3974;ExAC_NFE=0.4182;ExAC_OTH=0.4569;ExAC_SAS=0.5481;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1174,99,0 1 196683366 rs203677 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.915836\x3bName\x3echr1:196882768;Repeat=.;avsnp150=rs203677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.7522;1000g2015aug_all=0.754593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 196684625 rs203674 G T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs203674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9514;1000g2015aug_sas=0.7065;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.7522;1000g2015aug_all=0.754593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 196705926 rs375046 C A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23\x3bName\x3e"346211:(TTAATT)n(Simple_repeat)";avsnp150=rs375046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.829;1000g2015aug_amr=0.7594;1000g2015aug_all=0.77476;esp6500siv2_all=.;ExAC_ALL=0.6753;ExAC_AFR=0.7790;ExAC_AMR=0.7797;ExAC_EAS=0.9545;ExAC_FIN=0.5411;ExAC_NFE=0.6241;ExAC_OTH=0.6548;ExAC_SAS=0.6967;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 196710916 rs16840522 T C 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.052;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.484;SOR=1.501;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16840522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.1729;1000g2015aug_all=0.23722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,13:28:99:447,0,530 1 196712577 rs513699 T C 394.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.805;DP=70;ExcessHet=3.0103;FS=9.721;MLEAC=1;MLEAF=0.5;MQ=58.02;MQRankSum=-8.249;QD=5.64;ReadPosRankSum=-1.302;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=intronic;Gene=NM_000186;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196827189;Repeat=.;avsnp150=rs513699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2585;ExAC_AFR=0.2335;ExAC_AMR=0.3236;ExAC_EAS=0.3530;ExAC_FIN=0.2551;ExAC_NFE=0.2478;ExAC_OTH=0.2636;ExAC_SAS=0.2241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,12:70:99:423,0,3783 1 196712586 rs61822181 C T 453.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.706;DP=90;ExcessHet=3.0103;FS=4.664;MLEAC=1;MLEAF=0.5;MQ=58.47;MQRankSum=-7.368;QD=5.04;ReadPosRankSum=-1.271;SOR=1.575;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFH;Func=exonic;Gene=NM_000186;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFH:NM_000186:exon20:c.C3138T:p.T1046T;Gencode=Name\x3eENST00000367429.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196827189;Repeat=.;avsnp150=rs61822181;cosmic70=.;CLNALLELEID=278224;CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.2657;ExAC_AFR=0.2436;ExAC_AMR=0.3299;ExAC_EAS=0.3597;ExAC_FIN=0.2600;ExAC_NFE=0.2554;ExAC_OTH=0.2672;ExAC_SAS=0.2292;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,18:90:99:482,0,4176 1 196794909 rs409549 G C 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=intronic;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000367424.4,ENST00000320493.9;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196911496;Repeat=.;avsnp150=rs409549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.364;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.5101;1000g2015aug_all=0.472644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 196795849 rs424722 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=intronic;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000320493.9,ENST00000367424.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196911496;Repeat=Score\x3e1631\x3bName\x3e"346329:AluSz(SINE)";avsnp150=rs424722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.5101;1000g2015aug_all=0.473642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 196796184 rs399507 G A 575.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=intronic;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367424.4,ENST00000320493.9,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196911496;Repeat=.;avsnp150=rs399507;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5023;1000g2015aug_amr=0.5101;1000g2015aug_all=0.473442;esp6500siv2_all=0.4595;ExAC_ALL=0.4460;ExAC_AFR=0.5791;ExAC_AMR=0.5014;ExAC_EAS=0.5453;ExAC_FIN=0.3827;ExAC_NFE=0.4158;ExAC_OTH=0.4501;ExAC_SAS=0.4293;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:604,54,0 1 196796240 rs438781 T A 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=intronic;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000320493.9,ENST00000367424.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196911496;Repeat=.;avsnp150=rs438781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.513;1000g2015aug_all=0.497005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 196797123 rs677961 C T 184.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.29;QD=30.81;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=intronic;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000367424.4,ENST00000320493.9;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs677961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3671;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.503;1000g2015aug_amr=0.5101;1000g2015aug_all=0.473842;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:213,18,0 1 196797238 rs425757 C T 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.92;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=exonic;Gene=NM_002113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFHR1:NM_002113:exon4:c.C469T:p.H157Y;Gencode=Name\x3eENST00000367424.4,ENST00000320493.9,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs425757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.3059;ExAC_ALL=0.2607;ExAC_AFR=0.3590;ExAC_AMR=0.3096;ExAC_EAS=0.3616;ExAC_FIN=0.2297;ExAC_NFE=0.2265;ExAC_OTH=0.2818;ExAC_SAS=0.2740;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.142;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.147;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.45;MutationAssessor_pred=N;FATHMM_score=-0.14;FATHMM_pred=T;phyloP100way_vertebrate=-2.314;phyloP20way_mammalian=-1.281;SiPhy_29way_logOdds=4.017;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 196797244 rs410232 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.6;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=exonic;Gene=NM_002113;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFHR1:NM_002113:exon4:c.C475G:p.L159V;Gencode=Name\x3eENST00000367424.4,ENST00000320493.9,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs410232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.2889;ExAC_ALL=0.2102;ExAC_AFR=0.2885;ExAC_AMR=0.2560;ExAC_EAS=0.3003;ExAC_FIN=0.1867;ExAC_NFE=0.1825;ExAC_OTH=0.2066;ExAC_SAS=0.2173;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=-0.05;FATHMM_pred=T;phyloP100way_vertebrate=-1.356;phyloP20way_mammalian=-1.008;SiPhy_29way_logOdds=3.924;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 196801042 rs4230 G T 1240.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.4;QD=30.26;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=exonic;Gene=NM_002113;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFHR1:NM_002113:exon6:c.G906T:p.R302R;Gencode=Name\x3eENST00000367424.4,ENST00000320493.9,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs4230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.4463;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.5187;1000g2015aug_all=0.507388;esp6500siv2_all=0.4818;ExAC_ALL=0.4557;ExAC_AFR=0.6674;ExAC_AMR=0.5073;ExAC_EAS=0.5462;ExAC_FIN=0.3871;ExAC_NFE=0.4187;ExAC_OTH=0.4599;ExAC_SAS=0.4297;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1269,123,0 1 196801078 rs414628 A T 1350.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.46;QD=32.16;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=exonic;Gene=NM_002113;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFHR1:NM_002113:exon6:c.A942T:p.R314R;Gencode=Name\x3eENST00000367424.4,ENST00000320493.9,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs414628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.326;1000g2015aug_amr=0.5072;1000g2015aug_all=0.423722;esp6500siv2_all=0.3970;ExAC_ALL=0.4303;ExAC_AFR=0.3850;ExAC_AMR=0.4983;ExAC_EAS=0.5255;ExAC_FIN=0.3859;ExAC_NFE=0.4158;ExAC_OTH=0.4469;ExAC_SAS=0.4280;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1379,126,0 1 196801190 rs390679 C A 517.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR1;Func=UTR3;Gene=NM_002113;GeneDetail=NM_002113:c.*61C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000320493.9,ENST00000367424.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs390679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.5072;1000g2015aug_all=0.423522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:546,45,0 1 196801321 rs401332 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_002113;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.977966\x3bName\x3echr1:196742574;Repeat=.;avsnp150=rs401332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.5086;1000g2015aug_all=0.472644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 196874356 rs10801578 G T 385.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR4;Func=exonic;Gene=NM_001201550,NM_001201551;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFHR4:NM_001201550:exon3:c.G375T:p.E125D,CFHR4:NM_001201551:exon3:c.G372T:p.E124D;Gencode=Name\x3eENST00000251424.8,ENST00000367418.2,ENST00000608469.5,ENST00000367416.6,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10801578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9796;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994409;esp6500siv2_all=.;ExAC_ALL=0.9980;ExAC_AFR=0.9786;ExAC_AMR=0.9988;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.84;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_pred=T;phyloP100way_vertebrate=-0.005;phyloP20way_mammalian=-0.072;SiPhy_29way_logOdds=5.113;gerp++gt2=2.28;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:414,42,0 1 196876458 rs7417769 A G 1121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.676;DP=76;ExcessHet=3.0103;FS=4.584;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.522;SOR=0.336;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR4;Func=exonic;Gene=NM_001201550,NM_001201551;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CFHR4:NM_001201550:exon5:c.A629G:p.N210S,CFHR4:NM_001201551:exon5:c.A626G:p.N209S;Gencode=Name\x3eENST00000251424.8,ENST00000367421.4,ENST00000367418.2,ENST00000608469.5,ENST00000367416.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7417769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.7305;1000g2015aug_all=0.589058;esp6500siv2_all=.;ExAC_ALL=0.6852;ExAC_AFR=0.2906;ExAC_AMR=0.8130;ExAC_EAS=0.8140;ExAC_FIN=0.8164;ExAC_NFE=0.6961;ExAC_OTH=0.7027;ExAC_SAS=0.6630;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.74;MutationAssessor_pred=N;FATHMM_score=1.49;FATHMM_pred=T;phyloP100way_vertebrate=0.845;phyloP20way_mammalian=0.920;SiPhy_29way_logOdds=3.166;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,41:75:99:1150,0,859 1 196882344 rs7522952 A G 191.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.405;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR4;Func=intronic;Gene=NM_001201550,NM_001201551,NM_006684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367418.2,ENST00000608469.5,ENST00000367416.6,ENST00000367421.4,ENST00000251424.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs7522952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.0821;1000g2015aug_all=0.0698882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:220,0,103 1 196882436 rs7525447 T C 573.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.983;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59;MQRankSum=-1.423;QD=16.39;ReadPosRankSum=-0.219;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR4;Func=intronic;Gene=NM_001201550,NM_001201551,NM_006684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251424.8,ENST00000367421.4,ENST00000367418.2,ENST00000367416.6,ENST00000608469.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs7525447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.1311;1000g2015aug_all=0.20028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,21:35:99:602,0,277 1 196882503 rs7533270 G A 585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.988;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.1;MQRankSum=-1.955;QD=16.27;ReadPosRankSum=1.121;SOR=0.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR4;Func=intronic;Gene=NM_001201550,NM_001201551,NM_006684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000251424.8,ENST00000367421.4,ENST00000608469.5,ENST00000367416.6,ENST00000367418.2;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs7533270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.1311;1000g2015aug_all=0.20028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,23:36:99:614,0,263 1 196920148 rs4085749 C T 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.616;DP=33;ExcessHet=3.0103;FS=1.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.674;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=exonic;Gene=NM_005666;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CFHR2:NM_005666:exon3:c.C420T:p.C140C;Gencode=Name\x3eENST00000367415.6,ENST00000476712.6,ENST00000367421.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs4085749;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.316;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.464;1000g2015aug_all=0.32488;esp6500siv2_all=0.1703;ExAC_ALL=0.2962;ExAC_AFR=0.0631;ExAC_AMR=0.5366;ExAC_EAS=0.7217;ExAC_FIN=0.3048;ExAC_NFE=0.2362;ExAC_OTH=0.3018;ExAC_SAS=0.2924;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:323,0,525 1 196920178 rs3828032 C T 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=26;ExcessHet=3.0103;FS=1.77;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.901;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=intronic;Gene=NM_001312672,NM_005666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000476712.6,ENST00000367415.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs3828032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.2392;1000g2015aug_all=0.320887;esp6500siv2_all=0.3453;ExAC_ALL=0.2912;ExAC_AFR=0.4293;ExAC_AMR=0.1761;ExAC_EAS=0.1864;ExAC_FIN=0.1936;ExAC_NFE=0.3011;ExAC_OTH=0.2797;ExAC_SAS=0.3382;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:392,0,287 1 196920299 rs3790414 T A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=intronic;Gene=NM_001312672,NM_005666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000476712.6,ENST00000367415.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=Score\x3e0.972591\x3bName\x3echr1:196786971;Repeat=.;avsnp150=rs3790414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.174;1000g2015aug_amr=0.4755;1000g2015aug_all=0.365815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 196926956 rs3748556 C T 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=intronic;Gene=NM_001312672,NM_005666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000476712.6,ENST00000367415.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.2507;1000g2015aug_all=0.371805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 196926973 rs3748555 C A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=intronic;Gene=NM_001312672,NM_005666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000367415.6,ENST00000476712.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1706;1000g2015aug_sas=0.3456;1000g2015aug_eur=0.3111;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.2392;1000g2015aug_all=0.320887;esp6500siv2_all=0.3443;ExAC_ALL=0.2903;ExAC_AFR=0.4310;ExAC_AMR=0.1746;ExAC_EAS=0.1856;ExAC_FIN=0.1936;ExAC_NFE=0.3002;ExAC_OTH=0.2851;ExAC_SAS=0.3419;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 196927428 rs1359594 T G 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR2;Func=intronic;Gene=NM_001312672,NM_005666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367421.4,ENST00000476712.6,ENST00000367415.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e414\x3bName\x3e"346513:L1MA9(LINE)";avsnp150=rs1359594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.732;1000g2015aug_all=0.756989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 196946775 rs9427662 T C 737.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.945;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.07;SOR=0.744;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR5;Func=UTR5;Gene=NM_030787;GeneDetail=NM_030787:c.-20T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256785.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427662;cosmic70=.;CLNALLELEID=278227;CLNDN=Mesangiocapillary_glomerulonephritis,_type_II;CLNDISDB=MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.0845;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.1081;1000g2015aug_all=0.176917;esp6500siv2_all=0.2052;ExAC_ALL=0.1108;ExAC_AFR=0.4285;ExAC_AMR=0.0509;ExAC_EAS=0.0003;ExAC_FIN=0.0647;ExAC_NFE=0.0938;ExAC_OTH=0.0980;ExAC_SAS=0.0988;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,33:79:99:766,0,1330 1 196967458 rs1332664 G T 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.876;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.481;SOR=0.497;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCFHR5;Func=intronic;Gene=NM_030787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000256785.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6667;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.175;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.4265;1000g2015aug_all=0.30611;esp6500siv2_all=0.1161;ExAC_ALL=0.2483;ExAC_AFR=0.0638;ExAC_AMR=0.4996;ExAC_EAS=0.6979;ExAC_FIN=0.2516;ExAC_NFE=0.1599;ExAC_OTH=0.2511;ExAC_SAS=0.2965;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,15:36:99:376,0,633 1 197008597 rs5990 A C 616.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.324;DP=62;ExcessHet=3.0103;FS=2.177;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.057;SOR=1.068;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=intronic;Gene=NM_001994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.501;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.6455;1000g2015aug_all=0.52496;esp6500siv2_all=0.3914;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,28:62:99:645,0,860 1 197009798 rs5998 A G 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.673;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=1.472;SOR=0.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=exonic;Gene=NM_001994;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=F13B:NM_001994:exon11:c.T1806C:p.N602N;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5998;cosmic70=.;CLNALLELEID=249586;CLNDN=Factor_XIII_subunit_B_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.501;1000g2015aug_afr=0.1921;1000g2015aug_amr=0.6455;1000g2015aug_all=0.52496;esp6500siv2_all=0.3886;ExAC_ALL=0.5270;ExAC_AFR=0.2372;ExAC_AMR=0.7499;ExAC_EAS=0.8177;ExAC_FIN=0.5593;ExAC_NFE=0.4749;ExAC_OTH=0.5610;ExAC_SAS=0.5941;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:96:96,0,270 1 197029345 rs1332661 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=intronic;Gene=NM_001994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.5;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.6441;1000g2015aug_all=0.524161;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 197030201 rs5997 T C 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.63;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.503;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=exonic;Gene=NM_001994;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=F13B:NM_001994:exon4:c.A456G:p.T152T;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5997;cosmic70=.;CLNALLELEID=249588;CLNDN=Factor_XIII_subunit_B_deficiency|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.382;1000g2015aug_amr=0.8804;1000g2015aug_all=0.783746;esp6500siv2_all=0.7562;ExAC_ALL=0.8805;ExAC_AFR=0.4630;ExAC_AMR=0.9438;ExAC_EAS=0.9996;ExAC_FIN=0.9355;ExAC_NFE=0.9064;ExAC_OTH=0.8991;ExAC_SAS=0.9018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:168,0,341 1 197030829 rs5993 A T 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.139;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.908;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=intronic;Gene=NM_001994;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.428;1000g2015aug_all=0.298722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,272 1 197031021 rs6003 C T 374.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.039;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.435;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eF13B;Func=exonic;Gene=NM_001994;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=F13B:NM_001994:exon3:c.G344A:p.R115H;Gencode=Name\x3eENST00000367412.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6003;cosmic70=.;CLNALLELEID=31559;CLNDN=Factor_XIII_subunit_B_deficiency|Venous_thrombosis,_susceptibility_to|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:CN068878|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.8988;1000g2015aug_eur=0.9115;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.879;1000g2015aug_all=0.761781;esp6500siv2_all=0.7385;ExAC_ALL=0.8720;ExAC_AFR=0.3995;ExAC_AMR=0.9412;ExAC_EAS=0.9837;ExAC_FIN=0.9353;ExAC_NFE=0.9058;ExAC_OTH=0.8947;ExAC_SAS=0.9;SIFT_score=0.38;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.781;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.79;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;phyloP100way_vertebrate=-0.438;phyloP20way_mammalian=-1.615;SiPhy_29way_logOdds=4.868;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:403,0,251 1 197053373 rs12677 G A 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.367;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0.458;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=UTR3;Gene=NM_001206846,NM_018136;GeneDetail=NM_001206846:c.*81C>T\x3bNM_018136:c.*81C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12677;cosmic70=.;CLNALLELEID=278274;CLNDN=Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:CN239428;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.8804;1000g2015aug_all=0.782348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:171,0,263 1 197055925 rs10754213 T C 127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.335;DP=20;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.165;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367409.8,ENST00000294732.11,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754213;cosmic70=.;CLNALLELEID=167622;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.379;1000g2015aug_amr=0.8804;1000g2015aug_all=0.782748;esp6500siv2_all=0.7551;ExAC_ALL=0.8786;ExAC_AFR=0.4519;ExAC_AMR=0.9429;ExAC_EAS=0.9997;ExAC_FIN=0.9350;ExAC_NFE=0.9059;ExAC_OTH=0.8998;ExAC_SAS=0.9006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,6:20:99:156,0,320 1 197059878 rs4915315 G A 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.241;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294732.11,ENST00000612785.1,ENST00000367409.8,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9135;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.8761;1000g2015aug_all=0.76897;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,223 1 197059892 rs10754214 A G 104.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.21;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367408.5,ENST00000367409.8,ENST00000612785.1,ENST00000294732.11;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754214;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.8746;1000g2015aug_all=0.757188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:133,0,209 1 197059928 rs4915316 A G 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.143;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.041;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367408.5,ENST00000612785.1,ENST00000367409.8,ENST00000294732.11;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915316;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.2958;1000g2015aug_amr=0.8746;1000g2015aug_all=0.75639;esp6500siv2_all=0.7453;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:251,0,292 1 197070521 rs12138336 C G 132.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=1.465;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_018136;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASPM:NM_018136:exon18:c.G7860C:p.Q2620H;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000612785.1,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138336;cosmic70=.;CLNALLELEID=34461;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0276;1000g2015aug_eur=0.0825;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0432;1000g2015aug_all=0.028754;esp6500siv2_all=0.0505;ExAC_ALL=0.0511;ExAC_AFR=0.0144;ExAC_AMR=0.0300;ExAC_EAS=0.0001;ExAC_FIN=0.0627;ExAC_NFE=0.0711;ExAC_OTH=0.0532;ExAC_SAS=0.0309;SIFT_score=0.135;SIFT_pred=T;Polyphen2_HDIV_score=0.04;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.152;Polyphen2_HVAR_pred=B;LRT_score=0.257;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.64;MutationAssessor_pred=L;FATHMM_score=-0.6;FATHMM_pred=T;phyloP100way_vertebrate=-0.907;phyloP20way_mammalian=-0.947;SiPhy_29way_logOdds=6.539;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:161,0,21 1 197070776 rs10922162 C T 348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.119;DP=30;ExcessHet=3.0103;FS=5.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.762;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_018136;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASPM:NM_018136:exon18:c.G7605A:p.V2535V;Gencode=Name\x3eENST00000367408.5,ENST00000294732.11,ENST00000367409.8,ENST00000612785.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10922162;cosmic70=.;CLNALLELEID=34455;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=Name\x3eEnd-stage_coagulation;1000g2015aug_eas=0.6696;1000g2015aug_sas=0.318;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.428;1000g2015aug_all=0.294928;esp6500siv2_all=0.1149;ExAC_ALL=0.2396;ExAC_AFR=0.0437;ExAC_AMR=0.4940;ExAC_EAS=0.7019;ExAC_FIN=0.2483;ExAC_NFE=0.1561;ExAC_OTH=0.2328;ExAC_SAS=0.2786;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,12:30:99:377,0,491 1 197070815 rs1412640 T C 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.804;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-2.551;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_018136;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASPM:NM_018136:exon18:c.A7566G:p.L2522L;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000612785.1,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1412640;cosmic70=.;CLNALLELEID=34454;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.497;1000g2015aug_amr=0.8934;1000g2015aug_all=0.815895;esp6500siv2_all=0.7869;ExAC_ALL=0.8876;ExAC_AFR=0.5494;ExAC_AMR=0.9477;ExAC_EAS=0.9995;ExAC_FIN=0.9352;ExAC_NFE=0.9068;ExAC_OTH=0.9015;ExAC_SAS=0.9012;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,14:28:99:330,0,455 1 197070901 rs964201 A G 1300.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_018136;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ASPM:NM_018136:exon18:c.T7480C:p.Y2494H;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000612785.1,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs964201;cosmic70=.;CLNALLELEID=34451;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.995;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.997404;esp6500siv2_all=0.9957;ExAC_ALL=0.9956;ExAC_AFR=0.9989;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=0.9986;ExAC_NFE=0.9930;ExAC_OTH=0.9989;ExAC_SAS=0.9978;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.065;MutationAssessor_pred=N;FATHMM_score=-0.74;FATHMM_pred=T;phyloP100way_vertebrate=3.069;phyloP20way_mammalian=0.074;SiPhy_29way_logOdds=13.631;gerp++gt2=4.83;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1329,120,0 1 197091537 rs4915337 A T 577.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.379;DP=39;ExcessHet=3.0103;FS=4.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.098;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASPM:NM_001206846:exon14:c.T3579A:p.S1193S,ASPM:NM_018136:exon14:c.T3579A:p.S1193S;Gencode=Name\x3eENST00000612785.1,ENST00000367409.8,ENST00000294732.11,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915337;cosmic70=.;CLNALLELEID=34430;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.379;1000g2015aug_amr=0.8804;1000g2015aug_all=0.782548;esp6500siv2_all=0.7547;ExAC_ALL=0.8779;ExAC_AFR=0.4504;ExAC_AMR=0.9430;ExAC_EAS=0.9997;ExAC_FIN=0.9352;ExAC_NFE=0.9058;ExAC_OTH=0.8998;ExAC_SAS=0.9008;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,19:39:99:606,0,651 1 197101621 rs3737111 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367408.5,ENST00000294732.11,ENST00000367409.8,ENST00000612785.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.6145;1000g2015aug_eur=0.5;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.647;1000g2015aug_all=0.541534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 197102745 rs4915344 A G 358.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.686;DP=30;ExcessHet=3.0103;FS=7.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.508;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612785.1,ENST00000367409.8,ENST00000294732.11,ENST00000367408.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915344;cosmic70=.;CLNALLELEID=101783;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.428;1000g2015aug_all=0.29972;esp6500siv2_all=0.1140;ExAC_ALL=0.2416;ExAC_AFR=0.0468;ExAC_AMR=0.4954;ExAC_EAS=0.7026;ExAC_FIN=0.2490;ExAC_NFE=0.1566;ExAC_OTH=0.2327;ExAC_SAS=0.2843;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:387,0,450 1 197102839 rs4915345 A C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367408.5,ENST00000294732.11,ENST00000612785.1,ENST00000367409.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9029;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.497;1000g2015aug_amr=0.8934;1000g2015aug_all=0.815895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 197108427 rs1332662 A G 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.712;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000612785.1,ENST00000367409.8,ENST00000294732.11;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.8761;1000g2015aug_all=0.771366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:28:120,0,28 1 197109042 rs1332663 C T 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.949;DP=15;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.001;SOR=0.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367409.8,ENST00000612785.1,ENST00000294732.11;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332663;cosmic70=.;CLNALLELEID=167635;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.379;1000g2015aug_amr=0.8804;1000g2015aug_all=0.782548;esp6500siv2_all=0.7555;ExAC_ALL=0.8779;ExAC_AFR=0.4486;ExAC_AMR=0.9423;ExAC_EAS=0.9996;ExAC_FIN=0.9343;ExAC_NFE=0.9041;ExAC_OTH=0.8982;ExAC_SAS=0.9007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:221,0,247 1 197112533 rs6677082 G A 1096.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.445;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.28;SOR=0.742;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=exonic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ASPM:NM_001206846:exon3:c.C849T:p.S283S,ASPM:NM_018136:exon3:c.C849T:p.S283S;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000612785.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677082;cosmic70=.;CLNALLELEID=101786;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.295;1000g2015aug_amr=0.8746;1000g2015aug_all=0.755591;esp6500siv2_all=0.7308;ExAC_ALL=0.8698;ExAC_AFR=0.3743;ExAC_AMR=0.9388;ExAC_EAS=0.9834;ExAC_FIN=0.9349;ExAC_NFE=0.9054;ExAC_OTH=0.8916;ExAC_SAS=0.9006;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,45:93:99:1125,0,1343 1 197113073 rs1571964 G A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eASPM;Func=intronic;Gene=NM_001206846,NM_018136;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294732.11,ENST00000367409.8,ENST00000612785.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1571964;cosmic70=.;CLNALLELEID=101784;CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.9095;1000g2015aug_afr=0.295;1000g2015aug_amr=0.8746;1000g2015aug_all=0.755591;esp6500siv2_all=0.7302;ExAC_ALL=0.8704;ExAC_AFR=0.3786;ExAC_AMR=0.9394;ExAC_EAS=0.9834;ExAC_FIN=0.9342;ExAC_NFE=0.9043;ExAC_OTH=0.8901;ExAC_SAS=0.9007;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,107 1 197128726 rs12128631 G A 2096.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.772;DP=202;ExcessHet=3.0103;FS=3.196;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.375;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBTB41;Func=exonic;Gene=NM_194314;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZBTB41:NM_194314:exon10:c.C2493T:p.L831L;Gencode=Name\x3eENST00000367405.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.32;1000g2015aug_eur=0.17;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.4251;1000g2015aug_all=0.297724;esp6500siv2_all=0.1151;ExAC_ALL=0.2392;ExAC_AFR=0.0458;ExAC_AMR=0.4942;ExAC_EAS=0.7040;ExAC_FIN=0.2483;ExAC_NFE=0.1544;ExAC_OTH=0.2357;ExAC_SAS=0.2789;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:113,89:202:99:2125,0,2948 1 197297540 rs12042179 A T 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-0.712;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367399.6,ENST00000367400.7,ENST00000535699.5,ENST00000538660.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042179;cosmic70=.;CLNALLELEID=102553;CLNDN=Leber_congenital_amaurosis|Pigmented_paravenous_chorioretinal_atrophy|not_specified|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED_CT:193413001|MedGen:C1868310,OMIM:172870,Orphanet:ORPHA251295|MedGen:CN169374|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.407;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.5461;1000g2015aug_all=0.403155;esp6500siv2_all=0.2866;ExAC_ALL=0.4457;ExAC_AFR=0.0913;ExAC_AMR=0.6027;ExAC_EAS=0.7926;ExAC_FIN=0.5182;ExAC_NFE=0.4216;ExAC_OTH=0.4269;ExAC_SAS=0.4233;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,154 1 197316239 rs1337168 C G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538660.5,ENST00000535699.5,ENST00000367400.7,ENST00000367399.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1337168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.7983;1000g2015aug_all=0.837859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 197316435 rs1337167 T C 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.948;DP=100;ExcessHet=3.0103;FS=0.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.142;SOR=0.808;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538660.5,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1337167;cosmic70=.;CLNALLELEID=249591;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.9008;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.7968;1000g2015aug_all=0.839257;esp6500siv2_all=0.8308;ExAC_ALL=0.8184;ExAC_AFR=0.9077;ExAC_AMR=0.8392;ExAC_EAS=0.7925;ExAC_FIN=0.8033;ExAC_NFE=0.7889;ExAC_OTH=0.8150;ExAC_SAS=0.8867;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,40:98:99:985,0,1682 1 197325908 rs2786098 T G 484.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.66;DP=44;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.609;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538660.5,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786098;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAsthma;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.9039;1000g2015aug_eur=0.7783;1000g2015aug_afr=0.9251;1000g2015aug_amr=0.8055;1000g2015aug_all=0.842652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,17:43:99:513,0,736 1 197390368 rs3902057 A G 2064.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=exonic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CRB1:NM_001193640:exon4:c.A1074G:p.L358L,CRB1:NM_001257966:exon6:c.A1410G:p.L470L,CRB1:NM_201253:exon6:c.A1410G:p.L470L,CRB1:NM_001257965:exon8:c.A1203G:p.L401L;Gencode=Name\x3eENST00000538660.5,ENST00000367397.1,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3902057;cosmic70=.;CLNALLELEID=177648;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.9813;1000g2015aug_all=0.919728;esp6500siv2_all=0.9210;ExAC_ALL=0.9781;ExAC_AFR=0.7639;ExAC_AMR=0.9878;ExAC_EAS=0.9995;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2093,183,0 1 197398086 rs7534863 A G 2410.77 PASS AC=2;AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535699.5,ENST00000367399.6,ENST00000367400.7,ENST00000538660.5,ENST00000367397.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.4452;1000g2015aug_all=0.358427;esp6500siv2_all=.;ExAC_ALL=0.4236;ExAC_AFR=0.2158;ExAC_AMR=0.3913;ExAC_EAS=0.3284;ExAC_FIN=.;ExAC_NFE=0.4863;ExAC_OTH=0.4914;ExAC_SAS=0.4074;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2439,236,0 1 197404954 rs927511 T C 172.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538660.5,ENST00000367397.1,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs927511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.9813;1000g2015aug_all=0.919728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:201,15,0 1 197407439 rs2146485 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535699.5,ENST00000422250.1,ENST00000367400.7,ENST00000367399.6,ENST00000367397.1,ENST00000538660.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2146485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.9813;1000g2015aug_all=0.919928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 197407942 rs980371 A G 615.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422250.1,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7,ENST00000538660.5,ENST00000367397.1;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs980371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7065;1000g2015aug_amr=0.9813;1000g2015aug_all=0.919728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:644,48,0 1 197408614 rs4382756 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367397.1,ENST00000538660.5,ENST00000535699.5,ENST00000422250.1,ENST00000367400.7,ENST00000367399.6;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4382756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9957;1000g2015aug_all=0.973642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 197446702 rs1135810 G T 770.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=4.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCRB1;Func=intronic;Gene=NM_001193640,NM_001257965,NM_001257966,NM_201253;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538660.5,ENST00000535699.5,ENST00000367399.6,ENST00000367400.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.3963;1000g2015aug_all=0.332069;esp6500siv2_all=.;ExAC_ALL=0.4800;ExAC_AFR=0.3301;ExAC_AMR=0.5093;ExAC_EAS=0.4376;ExAC_FIN=0.4345;ExAC_NFE=0.5251;ExAC_OTH=0.4717;ExAC_SAS=0.4321;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:799,63,0 1 197480927 rs12142127 C T 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.481;DP=53;ExcessHet=3.0103;FS=3.904;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.544;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=exonic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DENND1B:NM_001195215:exon22:c.G1746A:p.Q582Q;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12142127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.2622;1000g2015aug_all=0.229633;esp6500siv2_all=0.2798;ExAC_ALL=0.2739;ExAC_AFR=0.1562;ExAC_AMR=0.1840;ExAC_EAS=0.2106;ExAC_FIN=0.2220;ExAC_NFE=0.3239;ExAC_OTH=0.2837;ExAC_SAS=0.2618;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,25:53:99:613,0,727 1 197482167 rs2013617 C G 90.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.51;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2013617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9841;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:118,12,0 1 197508901 rs4915551 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=1.036;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.873;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.719;1000g2015aug_all=0.64377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 197510025 rs3902061 G T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3902061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9911;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8245;1000g2015aug_amr=0.9856;1000g2015aug_all=0.949681;esp6500siv2_all=0.9514;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 197510299 rs3850628 G A 377.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.07;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3850628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.997;1000g2015aug_amr=1;1000g2015aug_all=0.999201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:406,30,0 1 197515715 rs4303099 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.431;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4303099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.781;1000g2015aug_all=0.813698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 197515777 rs4316386 A T 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.352;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-0.295;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4316386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.7922;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.7752;1000g2015aug_all=0.807708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,269 1 197515981 rs10922249 T C 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.609;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.123;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10922249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2622;1000g2015aug_all=0.226837;esp6500siv2_all=0.2796;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:330,0,322 1 197552034 rs2884629 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215,NM_001300858,NM_144977;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367396.7,ENST00000620048.4,ENST00000235453.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2884629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.2637;1000g2015aug_all=0.227835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 197704717 rs17641524 C T 1396.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.622;DP=126;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.61;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=exonic;Gene=NM_001300858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DENND1B:NM_001300858:exon3:c.G51A:p.S17S;Gencode=Name\x3eENST00000620048.4,ENST00000367396.7,ENST00000235453.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17641524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1671;1000g2015aug_all=0.121605;esp6500siv2_all=0.1545;ExAC_ALL=0.1740;ExAC_AFR=0.0384;ExAC_AMR=0.1304;ExAC_EAS=0.0930;ExAC_FIN=0.1443;ExAC_NFE=0.2026;ExAC_OTH=0.1931;ExAC_SAS=0.2222;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,48:125:99:1425,0,2346 1 197741951 rs2477067 C A 516.73 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.61;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215,NM_001195216,NM_001300858,NM_144977;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235453.8,ENST00000367396.7,ENST00000620048.4;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1901\x3bName\x3e"347769:AluJb(SINE)";avsnp150=rs2477067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.995;1000g2015aug_afr=1;1000g2015aug_amr=0.9928;1000g2015aug_all=0.997204;esp6500siv2_all=0.9947;ExAC_ALL=0.9842;ExAC_AFR=0.9935;ExAC_AMR=0.9886;ExAC_EAS=0.9850;ExAC_FIN=0.9988;ExAC_NFE=0.9719;ExAC_OTH=0.9781;ExAC_SAS=0.9926;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:554,63,0 1 197742171 rs2488396 C T 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-1.242;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDENND1B;Func=intronic;Gene=NM_001195215,NM_001195216,NM_001300858,NM_144977;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235453.8,ENST00000620048.4,ENST00000367396.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2488396;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8589;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.9811;1000g2015aug_amr=0.7997;1000g2015aug_all=0.876597;esp6500siv2_all=.;ExAC_ALL=0.8454;ExAC_AFR=0.9472;ExAC_AMR=0.8155;ExAC_EAS=0.8753;ExAC_FIN=0.8367;ExAC_NFE=0.8014;ExAC_OTH=0.8522;ExAC_SAS=0.8668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,136 1 197747777 rs1775445 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001195215,NM_001024594;GeneDetail=dist\x3e3154\x3bdist\x3e123905;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1984\x3bName\x3e"347776:AluSz6(SINE)";avsnp150=rs1775445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.8589;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.7968;1000g2015aug_all=0.864018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 197876533 rs1546244 C A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001024594;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1546244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9942;1000g2015aug_all=0.973442;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 197880773 rs11588265 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001014434;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.3444;1000g2015aug_all=0.359824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 197882038 rs12139466 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.14;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX9;Func=intronic;Gene=NM_001014434;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367390.7,ENST00000367391.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.3444;1000g2015aug_all=0.360224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 197886245 rs58243706 T C 167.25 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=-1.465;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX9;Func=intronic;Gene=NM_001014434;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000561173.5,ENST00000367391.5,ENST00000367390.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"348014:(TG)n(Simple_repeat)";avsnp150=rs58243706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:204,0,21 1 197890422 rs12122995 C G 2075.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=2.794;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX9;Func=intronic;Gene=NM_001014434,NM_020204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367387.5,ENST00000367391.5,ENST00000561173.5,ENST00000367390.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.7829;1000g2015aug_amr=0.9741;1000g2015aug_all=0.929912;esp6500siv2_all=0.9183;ExAC_ALL=0.9625;ExAC_AFR=0.8080;ExAC_AMR=0.9849;ExAC_EAS=0.9995;ExAC_FIN=0.9899;ExAC_NFE=0.9696;ExAC_OTH=0.9695;ExAC_SAS=0.9868;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2104,171,0 1 197890802 rs13376365 T C 1843.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.548;DP=158;ExcessHet=3.0103;FS=2.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.357;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLHX9;Func=intronic;Gene=NM_001014434,NM_020204;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367391.5,ENST00000561173.5,ENST00000367387.5,ENST00000367390.7;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13376365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.2565;1000g2015aug_all=0.268371;esp6500siv2_all=0.2094;ExAC_ALL=0.2878;ExAC_AFR=0.2752;ExAC_AMR=0.3773;ExAC_EAS=0.3280;ExAC_FIN=0.2299;ExAC_NFE=0.2490;ExAC_OTH=0.3078;ExAC_SAS=0.4003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,68:156:99:1872,0,2507 1 198085864 rs59591884 G T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001014434,NM_133494;GeneDetail=dist\x3e186591\x3bdist\x3e40244;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2206\x3bName\x3e"348354:L1MA9(LINE)";avsnp150=rs59591884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.146;1000g2015aug_amr=0.1556;1000g2015aug_all=0.18151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 198085967 rs56945288 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001014434,NM_133494;GeneDetail=dist\x3e186694\x3bdist\x3e40141;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2206\x3bName\x3e"348354:L1MA9(LINE)";avsnp150=rs56945288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.1636;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.146;1000g2015aug_amr=0.1556;1000g2015aug_all=0.18151;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 198141656 rs78613258 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=intronic;Gene=NM_133494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538004.5,ENST00000367383.5,ENST00000367385.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78613258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.1021;1000g2015aug_amr=0.0793;1000g2015aug_all=0.102636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 198167287 rs12240144 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=intronic;Gene=NM_133494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367383.5,ENST00000367385.8,ENST00000538004.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12240144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.163;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.1556;1000g2015aug_all=0.196685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:75,0,37 1 198222457 rs3762381 A T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=intronic;Gene=NM_133494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367383.5,ENST00000367385.8,ENST00000538004.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.4576;1000g2015aug_amr=0.33;1000g2015aug_all=0.466653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 198225658 rs6688481 T C 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.545;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=intronic;Gene=NM_133494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367385.8,ENST00000367383.5,ENST00000538004.5;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.137;1000g2015aug_eur=0.16;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.1571;1000g2015aug_all=0.215056;esp6500siv2_all=0.1843;ExAC_ALL=0.2122;ExAC_AFR=0.3488;ExAC_AMR=0.2743;ExAC_EAS=0.2833;ExAC_FIN=0.2072;ExAC_NFE=0.1711;ExAC_OTH=0.1887;ExAC_SAS=0.2010;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 198246939 rs4915274 A C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.842;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=intronic;Gene=NM_133494;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000538004.5,ENST00000367385.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915274;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.6585;1000g2015aug_all=0.705471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 198288709 rs6679100 A G 528.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.828;DP=42;ExcessHet=3.0103;FS=8.338;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.064;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNEK7;Func=UTR3;Gene=NM_133494;GeneDetail=NM_133494:c.*57A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367385.8;cytoBand=1q31.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.764;1000g2015aug_amr=0.6599;1000g2015aug_all=0.694089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,18:42:99:557,0,669 1 198701289 rs1932433 T C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRC;Func=intronic;Gene=NM_002838,NM_080921;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348564.10,ENST00000442510.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1932433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3264;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.5764;1000g2015aug_all=0.535543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 198918502 rs4915331 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040073,NR_110525;GeneDetail=dist\x3e11944\x3bdist\x3e43216;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.7216;1000g2015aug_amr=0.8228;1000g2015aug_all=0.815096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 198918524 rs4915332 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040073,NR_110525;GeneDetail=dist\x3e11966\x3bdist\x3e43194;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.7663;1000g2015aug_amr=0.8228;1000g2015aug_all=0.827077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 198918616 rs4915333 C G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_040073,NR_110525;GeneDetail=dist\x3e12058\x3bdist\x3e43102;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915333;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 199139805 rs1994112 A T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126351,NM_003822;GeneDetail=dist\x3e93942\x3bdist\x3e856925;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452199.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1986\x3bName\x3e"349955:AluSz6(SINE)";avsnp150=rs1994112;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.7791;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.6844;1000g2015aug_all=0.73762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 199955762 rs4915401 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_126351,NM_003822;GeneDetail=dist\x3e909899\x3bdist\x3e40968;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.9337;1000g2015aug_all=0.91853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 199998304 rs60535681 G A 1604.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.917;DP=101;ExcessHet=3.0103;FS=2.813;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.306;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236914.7,ENST00000367362.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60535681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.357;1000g2015aug_amr=0.0893;1000g2015aug_all=0.134784;esp6500siv2_all=.;ExAC_ALL=0.0479;ExAC_AFR=0.2865;ExAC_AMR=0.0676;ExAC_EAS=0.0391;ExAC_FIN=.;ExAC_NFE=0.1124;ExAC_OTH=0.0417;ExAC_SAS=0.0180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,55:101:99:1633,0,1462 1 199998491 rs2816950 C G 90.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.56;ReadPosRankSum=0.651;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236914.7,ENST00000367362.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2816950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.09;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.6921;1000g2015aug_amr=0.183;1000g2015aug_all=0.28095;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:119,0,286 1 200013123 rs2737636 C A 1118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.201;DP=49;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.83;ReadPosRankSum=-0.691;SOR=0.381;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236914.7,ENST00000367362.7,ENST00000544748.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2737636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0347;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.0915;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,36:49:99:1147,0,362 1 200014762 rs2817008 A G 101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.443;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.061;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367362.7,ENST00000544748.5,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.329;1000g2015aug_afr=0.7738;1000g2015aug_amr=0.2752;1000g2015aug_all=0.36242;esp6500siv2_all=0.4647;ExAC_ALL=0.3216;ExAC_AFR=0.7356;ExAC_AMR=0.1871;ExAC_EAS=0.0681;ExAC_FIN=0.3054;ExAC_NFE=0.3385;ExAC_OTH=0.2923;ExAC_SAS=0.2167;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:130,0,327 1 200014790 rs2817009 A G 64.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=0.381;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544748.5,ENST00000367362.7,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2817009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.1686;1000g2015aug_all=0.228035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:93:93,0,269 1 200017586 rs2821368 C G 1352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.308;DP=125;ExcessHet=3.0103;FS=4.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.287;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=exonic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NR5A2:NM_001276464:exon4:c.C534G:p.P178P,NR5A2:NM_003822:exon4:c.C612G:p.P204P,NR5A2:NM_205860:exon5:c.C750G:p.P250P;Gencode=Name\x3eENST00000236914.7,ENST00000367362.7,ENST00000544748.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2821368;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0397;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.1799;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.17;1000g2015aug_all=0.230232;esp6500siv2_all=0.2803;ExAC_ALL=0.1886;ExAC_AFR=0.4946;ExAC_AMR=0.1209;ExAC_EAS=0.0379;ExAC_FIN=0.1996;ExAC_NFE=0.1848;ExAC_OTH=0.1773;ExAC_SAS=0.1339;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,53:125:99:1381,0,2045 1 200055867 rs2737662 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236914.7,ENST00000544748.5,ENST00000367362.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2737662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.5375;1000g2015aug_all=0.536941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 200080463 rs3828110 C T 237.96 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.68;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.099;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544748.5,ENST00000367362.7,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2937;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.6467;1000g2015aug_amr=0.5216;1000g2015aug_all=0.450679;esp6500siv2_all=.;ExAC_ALL=0.3150;ExAC_AFR=0.4682;ExAC_AMR=0.2975;ExAC_EAS=0.2131;ExAC_FIN=0.2194;ExAC_NFE=0.3117;ExAC_OTH=0.2951;ExAC_SAS=0.3419;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:2,11:13:5:265,5,0 1 200080614 rs2737672 T G 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367362.7,ENST00000544748.5,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2737672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.993;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 200089872 rs10494808 C T 1297.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=3.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236914.7,ENST00000367362.7,ENST00000544748.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10494808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.348;1000g2015aug_amr=0.4813;1000g2015aug_all=0.36861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1326,105,0 1 200090219 rs3762397 C T 258.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000544748.5,ENST00000367362.7,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3762397;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.3495;1000g2015aug_amr=0.4813;1000g2015aug_all=0.36901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:287,21,0 1 200117310 rs2816964 C T 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367362.7,ENST00000544748.5,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2816964;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9433;1000g2015aug_afr=0.9834;1000g2015aug_amr=0.9813;1000g2015aug_all=0.945887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 200117453 rs72740851 A T 617.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.74;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=intronic;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367362.7,ENST00000544748.5,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72740851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.0266;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.0865;1000g2015aug_all=0.0974441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:646,72,0 1 200143442 rs1060061 T C 748.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNR5A2;Func=UTR3;Gene=NM_001276464,NM_003822,NM_205860;GeneDetail=NM_001276464:c.*104T>C\x3bNM_003822:c.*104T>C\x3bNM_205860:c.*104T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367362.7,ENST00000544748.5,ENST00000236914.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1060061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.5144;1000g2015aug_all=0.463259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:777,60,0 1 200182654 rs6427805 T C 982.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e36104\x3bdist\x3e129018;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9107;1000g2015aug_all=0.930112;esp6500siv2_all=0.9345;ExAC_ALL=0.9079;ExAC_AFR=0.9738;ExAC_AMR=0.9428;ExAC_EAS=0.9618;ExAC_FIN=0.9212;ExAC_NFE=0.9041;ExAC_OTH=0.9181;ExAC_SAS=0.8814;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:75:1011,75,0 1 200182664 rs6427806 C T 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.676;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.238;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e36114\x3bdist\x3e129008;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.5965;1000g2015aug_all=0.664537;esp6500siv2_all=0.5380;ExAC_ALL=0.6131;ExAC_AFR=0.8298;ExAC_AMR=0.7688;ExAC_EAS=0.9124;ExAC_FIN=0.5772;ExAC_NFE=0.5038;ExAC_OTH=0.6457;ExAC_SAS=0.6365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,13:27:99:360,0,423 1 200182799 rs114847764 G A 1376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=78;ExcessHet=3.0103;FS=6.395;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.65;ReadPosRankSum=-0.884;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e36249\x3bdist\x3e128873;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.934046\x3bName\x3echr13:19382437;Repeat=.;avsnp150=rs114847764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.056;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0758786;esp6500siv2_all=0.0483;ExAC_ALL=0.0532;ExAC_AFR=0.0517;ExAC_AMR=0.0238;ExAC_EAS=0.1672;ExAC_FIN=0.0170;ExAC_NFE=0.0418;ExAC_OTH=0.0684;ExAC_SAS=0.0747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,48:78:99:1405,0,811 1 200182834 rs12028402 A G 1597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.142;DP=91;ExcessHet=3.0103;FS=5.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-1.165;SOR=1.345;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e36284\x3bdist\x3e128838;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.934046\x3bName\x3echr13:19382437;Repeat=.;avsnp150=rs12028402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8462;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.585;1000g2015aug_all=0.63778;esp6500siv2_all=0.4718;ExAC_ALL=0.5042;ExAC_AFR=0.6922;ExAC_AMR=0.7244;ExAC_EAS=0.8829;ExAC_FIN=0.3379;ExAC_NFE=0.3834;ExAC_OTH=0.4890;ExAC_SAS=0.5885;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,57:91:99:1626,0,943 1 200183398 rs10919847 C A 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.076;DP=32;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.701;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e36848\x3bdist\x3e128274;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.934046\x3bName\x3echr13:19382437;Repeat=.;avsnp150=rs10919847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.5992;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.8525;1000g2015aug_amr=0.5965;1000g2015aug_all=0.663938;esp6500siv2_all=0.5048;ExAC_ALL=0.5119;ExAC_AFR=0.7881;ExAC_AMR=0.7293;ExAC_EAS=0.8820;ExAC_FIN=0.3392;ExAC_NFE=0.3826;ExAC_OTH=0.4923;ExAC_SAS=0.5844;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,15:32:99:360,0,478 1 200184039 rs10919850 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e37489\x3bdist\x3e127633;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1372\x3bName\x3e"351920:AluSx(SINE)";avsnp150=rs10919850;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.0403;1000g2015aug_all=0.11222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200184271 rs17677047 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003822,NR_040064;GeneDetail=dist\x3e37721\x3bdist\x3e127401;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17677047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8452;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.585;1000g2015aug_all=0.63738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200311514 rs2790111 T G 56.74 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_040064;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1776\x3bName\x3e"352216:AluJb(SINE)";avsnp150=rs2790111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.7248;1000g2015aug_all=0.74401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200311868 rs2790109 C G 539.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00862;Func=ncRNA_exonic;Gene=NR_040064;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367355.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e815\x3bName\x3e"352217:MLT1D(LTR)";avsnp150=rs2790109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.7137;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.7248;1000g2015aug_all=0.744209;esp6500siv2_all=.;ExAC_ALL=0.7192;ExAC_AFR=0.7948;ExAC_AMR=0.6986;ExAC_EAS=0.6776;ExAC_FIN=0.8333;ExAC_NFE=0.7166;ExAC_OTH=0.7143;ExAC_SAS=0.7148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:568,48,0 1 200316961 rs6662709 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00862;Func=ncRNA_intronic;Gene=NR_040064;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367355.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2441\x3bName\x3e"352233:AluSp(SINE)";avsnp150=rs6662709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.7233;1000g2015aug_all=0.742412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200326810 rs2790133 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00862;Func=ncRNA_intronic;Gene=NR_040064;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367355.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1536\x3bName\x3e"352261:AluJr(SINE)";avsnp150=rs2790133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.649;1000g2015aug_amr=0.7104;1000g2015aug_all=0.698083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 200342046 rs6677545 A C 488.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00862;Func=ncRNA_intronic;Gene=NR_040064;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367355.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1647;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.4629;1000g2015aug_amr=0.2968;1000g2015aug_all=0.272564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:517,42,0 1 200522566 rs12120084 G C 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.045;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=0.573;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=exonic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KIF14:NM_001305792:exon28:c.C3424G:p.P1142A,KIF14:NM_014875:exon30:c.C4897G:p.P1633A;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12120084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.2017;1000g2015aug_all=0.219649;esp6500siv2_all=0.3058;ExAC_ALL=0.3203;ExAC_AFR=0.0887;ExAC_AMR=0.1753;ExAC_EAS=0.2305;ExAC_FIN=0.2640;ExAC_NFE=0.3999;ExAC_OTH=0.3223;ExAC_SAS=0.3156;SIFT_score=0.091;SIFT_pred=T;Polyphen2_HDIV_score=0.307;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.079;Polyphen2_HVAR_pred=B;LRT_score=0.577;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.195;MutationAssessor_pred=L;FATHMM_score=-0.77;FATHMM_pred=T;phyloP100way_vertebrate=-0.045;phyloP20way_mammalian=0.108;SiPhy_29way_logOdds=7.343;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,24:37:99:721,0,261 1 200534248 rs7543730 C T 1168.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=exonic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF14:NM_001305792:exon23:c.G2547A:p.E849E,KIF14:NM_014875:exon25:c.G4020A:p.E1340E;Gencode=Name\x3eENST00000614960.4,ENST00000367350.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.5461;1000g2015aug_all=0.563498;esp6500siv2_all=0.5359;ExAC_ALL=0.5717;ExAC_AFR=0.4187;ExAC_AMR=0.4951;ExAC_EAS=0.6811;ExAC_FIN=0.5206;ExAC_NFE=0.5836;ExAC_OTH=0.6123;ExAC_SAS=0.6349;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1197,108,0 1 200538885 rs10800711 C T 267.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"352768:MIR3(SINE)";avsnp150=rs10800711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.67;1000g2015aug_all=0.766573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:296,27,0 1 200545187 rs10800712 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614960.4,ENST00000367350.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.9017;1000g2015aug_amr=0.67;1000g2015aug_all=0.766374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200549590 rs10753877 T C 189.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.5755;1000g2015aug_afr=0.385;1000g2015aug_amr=0.5432;1000g2015aug_all=0.557109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:218,18,0 1 200555482 rs6691410 C T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.303;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e387\x3bName\x3e"352808:L1MA9(LINE)";avsnp150=rs6691410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.1988;1000g2015aug_all=0.213059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:131,0,145 1 200558363 rs6665951 T C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=exonic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KIF14:NM_001305792:exon16:c.A1623G:p.E541E,KIF14:NM_014875:exon18:c.A3096G:p.E1032E;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.67;1000g2015aug_all=0.766573;esp6500siv2_all=0.8067;ExAC_ALL=0.7515;ExAC_AFR=0.8819;ExAC_AMR=0.5923;ExAC_EAS=0.6804;ExAC_FIN=0.7442;ExAC_NFE=0.7675;ExAC_OTH=0.7671;ExAC_SAS=0.7556;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 200569392 rs2809357 C A 1017.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614960.4,ENST00000367350.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.91;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.913;1000g2015aug_amr=0.8963;1000g2015aug_all=0.91234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1046,93,0 1 200578093 rs2794409 G A 180.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.83;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614960.4,ENST00000367350.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.91;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.913;1000g2015aug_amr=0.8948;1000g2015aug_all=0.912141;esp6500siv2_all=0.9480;ExAC_ALL=0.9305;ExAC_AFR=0.9198;ExAC_AMR=0.8201;ExAC_EAS=0.8412;ExAC_FIN=0.9796;ExAC_NFE=0.9622;ExAC_OTH=0.9512;ExAC_SAS=0.9195;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:209,21,0 1 200578763 rs2808239 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2430\x3bName\x3e"352868:AluSx1(SINE)";avsnp150=rs2808239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.913;1000g2015aug_amr=0.8948;1000g2015aug_all=0.912141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 200578772 rs2794408 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF14;Func=intronic;Gene=NM_001305792,NM_014875;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367350.4,ENST00000614960.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2430\x3bName\x3e"352868:AluSx1(SINE)";avsnp150=rs2794408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.91;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.913;1000g2015aug_amr=0.8948;1000g2015aug_all=0.91234;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 200594240 rs2809350 G A 825.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=2.925;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014875,NM_001320181;GeneDetail=dist\x3e4378\x3bdist\x3e15695;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447706.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809350;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.9971;1000g2015aug_all=0.976038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:854,72,0 1 200597536 rs2809343 G C 63.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014875,NM_001320181;GeneDetail=dist\x3e7674\x3bdist\x3e12399;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447706.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9563;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9669;1000g2015aug_all=0.941693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 200618238 rs6665604 T C 780.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX59;Func=exonic;Gene=NM_001031725,NM_001320181,NM_001320182,NM_001349799,NM_001349800,NM_001349801,NM_001349802,NM_001349803;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DDX59:NM_001320182:exon3:c.A1089G:p.S363S,DDX59:NM_001349803:exon5:c.A1179G:p.S393S,DDX59:NM_001031725:exon6:c.A1431G:p.S477S,DDX59:NM_001320181:exon6:c.A1431G:p.S477S,DDX59:NM_001349799:exon6:c.A1431G:p.S477S,DDX59:NM_001349800:exon6:c.A1431G:p.S477S,DDX59:NM_001349801:exon6:c.A1431G:p.S477S,DDX59:NM_001349802:exon6:c.A1431G:p.S477S;Gencode=Name\x3eENST00000331314.10,ENST00000447706.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9765;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.9654;1000g2015aug_all=0.957468;esp6500siv2_all=0.9496;ExAC_ALL=0.9654;ExAC_AFR=0.9196;ExAC_AMR=0.9777;ExAC_EAS=1;ExAC_FIN=0.9864;ExAC_NFE=0.9605;ExAC_OTH=0.9780;ExAC_SAS=0.9778;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:809,81,0 1 200619478 rs2808230 C A 409.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX59;Func=intronic;Gene=NM_001031725,NM_001320181,NM_001320182,NM_001349799,NM_001349800,NM_001349801,NM_001349802,NM_001349803,NM_001349804;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331314.10,ENST00000447706.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2808230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9971;1000g2015aug_all=0.985024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:438,33,0 1 200619530 rs2809365 T C 1046.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=2.91;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDDX59;Func=intronic;Gene=NM_001031725,NM_001320181,NM_001320182,NM_001349799,NM_001349800,NM_001349801,NM_001349802,NM_001349803,NM_001349804;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447706.6,ENST00000331314.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2809365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.9971;1000g2015aug_all=0.975639;esp6500siv2_all=0.9774;ExAC_ALL=0.9936;ExAC_AFR=0.9271;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9988;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1075,87,0 1 200639156 rs6688581 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929224;Func=ncRNA_intronic;Gene=NR_110787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000568695.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.4755;1000g2015aug_all=0.47484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 200650034 rs6678702 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929224;Func=ncRNA_intronic;Gene=NR_110787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000568695.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e591\x3bName\x3e"353055:L2(LINE)";avsnp150=rs6678702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.8343;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200650063 rs6665979 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929224;Func=ncRNA_intronic;Gene=NR_110787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000568695.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e591\x3bName\x3e"353055:L2(LINE)";avsnp150=rs6665979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.8343;1000g2015aug_all=0.828674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200659855 rs7545177 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929224;Func=ncRNA_intronic;Gene=NR_110787;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000568695.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.2638;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.2233;1000g2015aug_all=0.257188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200801621 rs1874080 T A 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.697;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMSAP2;Func=intronic;Gene=NM_001297707,NM_001297708,NM_203459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358823.6,ENST00000236925.8,ENST00000413307.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1874080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.2752;1000g2015aug_all=0.227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:120,0,131 1 200816521 rs2172666 G T 453.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.348;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=0.195;SOR=1.123;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMSAP2;Func=intronic;Gene=NM_001297707,NM_001297708,NM_203459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413307.6,ENST00000236925.8,ENST00000358823.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e22\x3bName\x3e"353430:(TG)n(Simple_repeat)";avsnp150=rs2172666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.7767;1000g2015aug_all=0.728834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,15:21:99:482,0,150 1 200816658 rs2131834 T C 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMSAP2;Func=intronic;Gene=NM_001297707,NM_001297708,NM_203459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236925.8,ENST00000358823.6,ENST00000413307.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2131834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 200821536 rs10800743 C T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMSAP2;Func=intronic;Gene=NM_001297707,NM_001297708,NM_203459;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236925.8,ENST00000358823.6,ENST00000413307.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.781;1000g2015aug_all=0.732228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 200842005 rs61825263 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"353460:(CCTCC)n(Simple_repeat)";avsnp150=rs61825263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.2695;1000g2015aug_all=0.211262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 200842006 rs35650485 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_005298;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14\x3bName\x3e"353460:(CCTCC)n(Simple_repeat)";avsnp150=rs35650485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.2695;1000g2015aug_all=0.211262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 200842641 rs144298915 C T 391.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.953;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.792;SOR=0.612;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR25;Func=exonic;Gene=NM_005298;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GPR25:NM_005298:exon1:c.C476T:p.S159L;Gencode=Name\x3eENST00000304244.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144298915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0189;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0159;1000g2015aug_all=0.00838658;esp6500siv2_all=0.0136;ExAC_ALL=0.0283;ExAC_AFR=0.0051;ExAC_AMR=0.0173;ExAC_EAS=0.0009;ExAC_FIN=0.0176;ExAC_NFE=0.0442;ExAC_OTH=0.0246;ExAC_SAS=0.0132;SIFT_score=0.221;SIFT_pred=T;Polyphen2_HDIV_score=0.134;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.019;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.914;MutationTaster_pred=N;MutationAssessor_score=0.395;MutationAssessor_pred=N;FATHMM_score=1.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.146;phyloP20way_mammalian=-0.067;SiPhy_29way_logOdds=9.966;gerp++gt2=2.5;CADD=3.158;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:420,0,309 1 200843305 rs3738250 G T 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.271;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.031;SOR=0.73;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR25;Func=UTR3;Gene=NM_005298;GeneDetail=NM_005298:c.*54G>T;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.332;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.2392;1000g2015aug_all=0.19349;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,25:58:99:699,0,990 1 200861003 rs2271019 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.505;1000g2015aug_afr=0.5998;1000g2015aug_amr=0.5288;1000g2015aug_all=0.536142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200868450 rs776459569 C T 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.647;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.372;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs776459569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,19:27:99:510,0,151 1 200868862 rs296526 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367342.8,ENST00000413687.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.2334;1000g2015aug_all=0.186901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 200874327 rs374827 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs374827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.493;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.3732;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 200874331 rs442905 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs442905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5367;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.2133;1000g2015aug_all=0.322684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 200877850 rs41299637 T G 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.534;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.488;SOR=0.606;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41299637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.1585;1000g2015aug_all=0.136781;esp6500siv2_all=0.2379;ExAC_ALL=0.2115;ExAC_AFR=0.1675;ExAC_AMR=0.0962;ExAC_EAS=0.0027;ExAC_FIN=0.1969;ExAC_NFE=0.2745;ExAC_OTH=0.1811;ExAC_SAS=0.1755;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,32:66:99:900,0,924 1 200878727 rs12131796 G A 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.066;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.289;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367342.8,ENST00000413687.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12131796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.1599;1000g2015aug_all=0.137181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:261,0,397 1 200880978 rs296520 C T 187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.271;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.7;MQRankSum=-3.941;QD=10.43;ReadPosRankSum=-1.317;SOR=0.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=exonic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf106:NM_001142569:exon9:c.C1357T:p.R453C,C1orf106:NM_018265:exon9:c.C1654T:p.R552C;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.993548\x3bName\x3echr3:112183369;Repeat=.;avsnp150=rs296520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.6089;1000g2015aug_amr=0.8213;1000g2015aug_all=0.791933;esp6500siv2_all=0.6783;ExAC_ALL=0.7650;ExAC_AFR=0.6253;ExAC_AMR=0.8744;ExAC_EAS=0.9959;ExAC_FIN=0.7782;ExAC_NFE=0.7110;ExAC_OTH=0.7930;ExAC_SAS=0.8392;SIFT_score=0.285;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.812;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.5;MutationAssessor_pred=N;FATHMM_score=1.61;FATHMM_pred=T;phyloP100way_vertebrate=-0.650;phyloP20way_mammalian=0.091;SiPhy_29way_logOdds=3.796;gerp++gt2=.;CADD=1.724;CADD_Phred=14.54;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:216,0,337 1 200881172 rs296521 C A 873.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.481;DP=84;ExcessHet=3.0103;FS=0.846;MLEAC=1;MLEAF=0.5;MQ=51.44;MQRankSum=0.746;QD=10.4;ReadPosRankSum=-1.145;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=exonic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C1orf106:NM_001142569:exon9:c.C1551A:p.R517R,C1orf106:NM_018265:exon9:c.C1848A:p.R616R;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.993548\x3bName\x3echr3:112183369;Repeat=.;avsnp150=rs296521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2688;1000g2015aug_sas=0.3364;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.5432;1000g2015aug_all=0.325879;esp6500siv2_all=.;ExAC_ALL=0.4465;ExAC_AFR=0.2277;ExAC_AMR=0.5388;ExAC_EAS=0.3222;ExAC_FIN=0.5;ExAC_NFE=0.5457;ExAC_OTH=0.5423;ExAC_SAS=0.4111;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,37:84:99:902,0,1247 1 200881392 rs10800746 C T 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.245;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.095;SOR=0.52;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf106;Func=intronic;Gene=NM_001142569,NM_018265;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413687.2,ENST00000367342.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.993548\x3bName\x3echr3:112183369;Repeat=.;avsnp150=rs10800746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2341;1000g2015aug_sas=0.5;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.4047;1000g2015aug_amr=0.2032;1000g2015aug_all=0.338658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:487,0,613 1 200929375 rs296552 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_147176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.9568;1000g2015aug_all=0.922524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 200943550 rs296566 G C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360529.9,ENST00000422435.2,ENST00000332129.6,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.034;1000g2015aug_amr=0.1225;1000g2015aug_all=0.113818;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 200944057 rs296565 G A 999.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.02;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.6;SOR=0.774;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461742.6,ENST00000360529.9,ENST00000422435.2,ENST00000332129.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.034;1000g2015aug_amr=0.1225;1000g2015aug_all=0.113818;esp6500siv2_all=0.1315;ExAC_ALL=0.1475;ExAC_AFR=0.0490;ExAC_AMR=0.0748;ExAC_EAS=0.1181;ExAC_FIN=0.1446;ExAC_NFE=0.1794;ExAC_OTH=0.1592;ExAC_SAS=0.1462;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,34:77:99:1028,0,1360 1 200944164 rs296564 C T 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.191;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360529.9,ENST00000422435.2,ENST00000332129.6,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.1499;1000g2015aug_all=0.224241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,298 1 200944840 rs296563 T G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461742.6,ENST00000422435.2,ENST00000360529.9,ENST00000332129.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7877;1000g2015aug_sas=0.819;1000g2015aug_eur=0.6899;1000g2015aug_afr=0.7746;1000g2015aug_amr=0.7954;1000g2015aug_all=0.771765;esp6500siv2_all=0.7154;ExAC_ALL=0.7439;ExAC_AFR=0.7775;ExAC_AMR=0.8262;ExAC_EAS=0.7927;ExAC_FIN=0.7466;ExAC_NFE=0.7054;ExAC_OTH=0.7663;ExAC_SAS=0.8070;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,189 1 200945778 rs296561 G C 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.687;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.072;SOR=0.805;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422435.2,ENST00000360529.9,ENST00000332129.6,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e475\x3bName\x3e"353678:L1ME4c(LINE)";avsnp150=rs296561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.034;1000g2015aug_amr=0.1239;1000g2015aug_all=0.116813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:510,0,765 1 200952486 rs296559 T C 137.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332129.6,ENST00000360529.9,ENST00000422435.2,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs296559;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.9871;1000g2015aug_afr=0.9478;1000g2015aug_amr=0.9553;1000g2015aug_all=0.923922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:165,12,0 1 200956118 rs199872671 C T 1842.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.52;DP=170;ExcessHet=3.0103;FS=3.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.924;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461742.6,ENST00000422435.2,ENST00000360529.9,ENST00000332129.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs199872671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000599042;esp6500siv2_all=0.0011;ExAC_ALL=0.0018;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0015;ExAC_NFE=0.0021;ExAC_OTH=0;ExAC_SAS=0.0036;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:96,74:170:99:1871,0,2642 1 200960307 rs2297909 G A 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.962;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.066;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461742.6,ENST00000332129.6,ENST00000360529.9,ENST00000422435.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAutism_spectrum_disorder,_attention_deficit-hyperactivity_disorder,_bipolar_disorder,_major_depressive_disorder,_and_schizophrenia_(combined),Ankylosing_spondylitis;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.233;1000g2015aug_amr=0.2046;1000g2015aug_all=0.228435;esp6500siv2_all=0.2720;ExAC_ALL=0.3010;ExAC_AFR=0.2774;ExAC_AMR=0.2292;ExAC_EAS=0.2609;ExAC_FIN=0.3158;ExAC_NFE=0.3418;ExAC_OTH=0.2779;ExAC_SAS=0.2240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,13:36:99:401,0,729 1 200965601 rs10920088 G A 70.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.113;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.05;ReadPosRankSum=-2.034;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332129.6,ENST00000360529.9,ENST00000422435.2,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.8646;1000g2015aug_amr=0.4669;1000g2015aug_all=0.589457;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:99,0,266 1 200967490 rs10920089 A G 170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.707;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.453;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332129.6,ENST00000360529.9,ENST00000422435.2,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.4669;1000g2015aug_all=0.591454;esp6500siv2_all=0.5878;ExAC_ALL=0.5203;ExAC_AFR=0.8278;ExAC_AMR=0.4829;ExAC_EAS=0.6362;ExAC_FIN=0.5216;ExAC_NFE=0.4910;ExAC_OTH=0.4765;ExAC_SAS=0.4015;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:199,0,340 1 200975040 rs6657915 T C 297.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000461742.6,ENST00000332129.6,ENST00000422435.2,ENST00000360529.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.9215;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9467;1000g2015aug_all=0.966653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:326,24,0 1 200975064 rs10920091 G A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332129.6,ENST00000422435.2,ENST00000360529.9,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.1369;1000g2015aug_amr=0.2133;1000g2015aug_all=0.213458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 200975115 rs11589573 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360529.9,ENST00000422435.2,ENST00000332129.6,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.056;1000g2015aug_amr=0.1455;1000g2015aug_all=0.109026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 200983489 rs11580823 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIF21B;Func=intronic;Gene=NM_001252100,NM_001252102,NM_001252103,NM_017596;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332129.6,ENST00000422435.2,ENST00000360529.9,ENST00000461742.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.1455;1000g2015aug_all=0.113019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 201009556 rs1546416 A G 950.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.566;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-1.706;SOR=0.683;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415359.1,ENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1546416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.416;1000g2015aug_amr=0.2882;1000g2015aug_all=0.332468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,37:64:99:979,0,750 1 201009897 rs6427875 T C 437.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.36;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000415359.1,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.994;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.997005;esp6500siv2_all=0.9901;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:466,48,0 1 201010862 rs6675915 T C 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.64;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.495;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000415359.1,ENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6675915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.3847;1000g2015aug_all=0.509984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,12:22:99:360,0,317 1 201012597 rs41267497 G A 1484.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.111;DP=123;ExcessHet=3.0103;FS=2.371;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.105;SOR=0.974;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon40:c.C4860T:p.P1620P;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41267497;cosmic70=.;CLNALLELEID=249602;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0461262;esp6500siv2_all=0.1186;ExAC_ALL=0.1065;ExAC_AFR=0.0287;ExAC_AMR=0.0594;ExAC_EAS=0.0015;ExAC_FIN=0.1228;ExAC_NFE=0.1588;ExAC_OTH=0.0872;ExAC_SAS=0.0271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,57:122:99:1513,0,1693 1 201013336 rs2297906 T C 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=0.141;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.829;1000g2015aug_amr=0.3818;1000g2015aug_all=0.508187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 201020360 rs12138260 G A 1128.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.407;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-1.167;SOR=0.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12138260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0459265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,44:72:99:1157,0,749 1 201037962 rs1272740 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2203\x3bName\x3e"353824:AluSc8(SINE)";avsnp150=rs1272740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.6052;1000g2015aug_all=0.727236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 201038687 rs7415038 A G 4129.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.187;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon18:c.T2403C:p.F801F;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7415038;cosmic70=.;CLNALLELEID=249625;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified|not_provided;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.5182;1000g2015aug_amr=0.3012;1000g2015aug_all=0.294129;esp6500siv2_all=0.4717;ExAC_ALL=0.4034;ExAC_AFR=0.5478;ExAC_AMR=0.2963;ExAC_EAS=0.0181;ExAC_FIN=0.4183;ExAC_NFE=0.4924;ExAC_OTH=0.3448;ExAC_SAS=0.1984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,131:131:99:4158,393,0 1 201044748 rs1998721 A G 5771.77 PASS AC=2;AF=1;AN=2;DP=189;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=0.887;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1998721;cosmic70=.;CLNALLELEID=249634;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified|not_provided;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.909;1000g2015aug_eur=0.7604;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.7536;1000g2015aug_all=0.759585;esp6500siv2_all=0.7033;ExAC_ALL=0.7814;ExAC_AFR=0.5465;ExAC_AMR=0.7180;ExAC_EAS=0.9570;ExAC_FIN=0.7842;ExAC_NFE=0.7783;ExAC_OTH=0.7815;ExAC_SAS=0.8930;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,189:189:99:5800,567,0 1 201046379 rs925060 T G 320.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs925060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.5219;1000g2015aug_amr=0.6772;1000g2015aug_all=0.719649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:349,24,0 1 201046388 rs6672094 A G 283.8 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6672094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9182;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.7839;1000g2015aug_all=0.842452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:21:312,21,0 1 201047075 rs4915477 A G 4380.77 PASS AC=2;AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=1.119;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon11:c.T1551C:p.G517G;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915477;cosmic70=.;CLNALLELEID=249638;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified|not_provided;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.6484;1000g2015aug_all=0.571086;esp6500siv2_all=0.7360;ExAC_ALL=0.5839;ExAC_AFR=0.8970;ExAC_AMR=0.5714;ExAC_EAS=0.2245;ExAC_FIN=0.5327;ExAC_NFE=0.6553;ExAC_OTH=0.5573;ExAC_SAS=0.3168;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,132:132:99:4409,396,0 1 201047111 rs9427714 A G 5289.77 PASS AC=2;AF=1;AN=2;DP=165;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.905;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon11:c.T1515C:p.C505C;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9427714;cosmic70=.;CLNALLELEID=249640;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.34;1000g2015aug_afr=0.028;1000g2015aug_amr=0.2032;1000g2015aug_all=0.126997;esp6500siv2_all=0.2766;ExAC_ALL=0.2449;ExAC_AFR=0.0718;ExAC_AMR=0.1196;ExAC_EAS=0.0010;ExAC_FIN=0.2033;ExAC_NFE=0.3544;ExAC_OTH=0.2225;ExAC_SAS=0.1449;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,164:164:99:5318,492,0 1 201050284 rs734881 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1041\x3bName\x3e"353846:L1MEd(LINE)";avsnp150=rs734881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.3228;1000g2015aug_all=0.214856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201050292 rs734880 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1041\x3bName\x3e"353846:L1MEd(LINE)";avsnp150=rs734880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.4036;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.3213;1000g2015aug_all=0.214058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201050297 rs35303915 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1041\x3bName\x3e"353846:L1MEd(LINE)";avsnp150=rs35303915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.338;1000g2015aug_afr=0.025;1000g2015aug_amr=0.2017;1000g2015aug_all=0.126398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201050364 rs7516825 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1041\x3bName\x3e"353846:L1MEd(LINE)";avsnp150=rs7516825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.3228;1000g2015aug_all=0.214856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201050843 rs11577079 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2465\x3bName\x3e"353848:MSTB(LTR)";avsnp150=rs11577079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.339;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.126997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201052310 rs12742169 A T 6480.77 PASS AC=2;AF=1;AN=2;DP=143;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.93;SOR=1.139;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CACNA1S:NM_000069:exon10:c.T1373A:p.L458H;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12742169;cosmic70=.;CLNALLELEID=249648;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.127196;esp6500siv2_all=0.2746;ExAC_ALL=0.2428;ExAC_AFR=0.0700;ExAC_AMR=0.1187;ExAC_EAS=0.0027;ExAC_FIN=0.2055;ExAC_NFE=0.3508;ExAC_OTH=0.2223;ExAC_SAS=0.1446;SIFT_score=0.222;SIFT_pred=T;Polyphen2_HDIV_score=0.835;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.466;Polyphen2_HVAR_pred=P;LRT_score=0.631;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.38;MutationAssessor_pred=L;FATHMM_score=-4.47;FATHMM_pred=D;phyloP100way_vertebrate=3.188;phyloP20way_mammalian=1.187;SiPhy_29way_logOdds=4.02;gerp++gt2=3.39;CADD=2.492;CADD_Phred=19.42;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,143:143:99:6509,439,0 1 201052312 rs12742170 A C 6480.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34;SOR=1.073;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon10:c.T1371G:p.P457P;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12742170;cosmic70=.;CLNALLELEID=249649;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.127196;esp6500siv2_all=0.2746;ExAC_ALL=0.2428;ExAC_AFR=0.0700;ExAC_AMR=0.1188;ExAC_EAS=0.0027;ExAC_FIN=0.2053;ExAC_NFE=0.3509;ExAC_OTH=0.2228;ExAC_SAS=0.1446;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:6509,439,0 1 201052474 rs12724643 T C 4340.77 PASS AC=2;AF=1;AN=2;DP=133;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.266;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12724643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.127196;esp6500siv2_all=0.2747;ExAC_ALL=0.2443;ExAC_AFR=0.0701;ExAC_AMR=0.1194;ExAC_EAS=0.0016;ExAC_FIN=0.2067;ExAC_NFE=0.3532;ExAC_OTH=0.2214;ExAC_SAS=0.1448;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,133:133:99:4369,398,0 1 201052562 rs12743065 G T 2222.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=3.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12743065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.127196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2251,189,0 1 201052743 rs12743376 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e267\x3bName\x3e"353853:L1ME3G(LINE)";avsnp150=rs12743376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2032;1000g2015aug_all=0.127196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201058692 rs2296384 T C 544.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.6024;1000g2015aug_afr=0.5938;1000g2015aug_amr=0.5216;1000g2015aug_all=0.521765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:573,42,0 1 201060525 rs7532130 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.999;1000g2015aug_eur=0.997;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9971;1000g2015aug_all=0.997404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201060865 rs2296383 G A 2529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.39;DP=207;ExcessHet=3.0103;FS=1.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.438;SOR=0.78;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CACNA1S:NM_000069:exon5:c.C597T:p.I199I;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296383;cosmic70=.;CLNALLELEID=249654;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified|not_provided;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3929;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.3963;1000g2015aug_all=0.305112;esp6500siv2_all=0.3298;ExAC_ALL=0.3887;ExAC_AFR=0.1029;ExAC_AMR=0.3542;ExAC_EAS=0.3588;ExAC_FIN=0.3679;ExAC_NFE=0.4304;ExAC_OTH=0.3825;ExAC_SAS=0.4481;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,99:206:99:2558,0,2770 1 201066265 . C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"353875:L2(LINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201066284 rs6704355 A G 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"353875:L2(LINE)";avsnp150=rs6704355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.6483;1000g2015aug_eur=0.9503;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.8602;1000g2015aug_all=0.765575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 201079088 rs1325311 G A 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.79;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1325311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.5519;1000g2015aug_all=0.5623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,253 1 201079235 rs1325310 C T 1059.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.069;DP=92;ExcessHet=3.0103;FS=0.848;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.327;SOR=0.814;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362061.3,ENST00000367338.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1325310;cosmic70=.;CLNALLELEID=32667;CLNDN=Thyrotoxic_periodic_paralysis;CLNDISDB=MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED_CT:30967002;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=.;1000g2015aug_eas=0.6399;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.2664;1000g2015aug_afr=0.3056;1000g2015aug_amr=0.4179;1000g2015aug_all=0.403754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,41:91:99:1088,0,1406 1 201079344 rs12406479 G C 1531.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.844;DP=153;ExcessHet=3.0103;FS=0.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=1.064;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=exonic;Gene=NM_000069;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CACNA1S:NM_000069:exon2:c.C206G:p.A69G;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12406479;cosmic70=.;CLNALLELEID=249660;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0389;1000g2015aug_eur=0.0527;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0225639;esp6500siv2_all=0.0392;ExAC_ALL=0.0372;ExAC_AFR=0.0088;ExAC_AMR=0.0176;ExAC_EAS=0.0002;ExAC_FIN=0.0487;ExAC_NFE=0.0473;ExAC_OTH=0.0386;ExAC_SAS=0.0425;SIFT_score=0.166;SIFT_pred=T;Polyphen2_HDIV_score=0.874;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.817;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_pred=M;FATHMM_score=-0.87;FATHMM_pred=T;phyloP100way_vertebrate=7.652;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=17.950;gerp++gt2=4.86;CADD=4.727;CADD_Phred=24.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,64:151:99:1560,0,2400 1 201079458 rs1325309 T A 526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.07;DP=74;ExcessHet=3.0103;FS=2.173;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=-1.383;SOR=0.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1325309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.545;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.5562;1000g2015aug_all=0.571486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,28:74:99:555,0,1313 1 201079590 rs7513829 C A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCACNA1S;Func=intronic;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367338.7,ENST00000362061.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8264;1000g2015aug_sas=0.545;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.4743;1000g2015aug_amr=0.5476;1000g2015aug_all=0.553115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,99 1 201081698 rs4506487 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000069;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4506487;cosmic70=.;CLNALLELEID=353071;CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis;CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.3775;1000g2015aug_all=0.368211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 201112981 rs8158 A G 2361.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=exonic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMEM9:NM_001288565:exon4:c.T366C:p.Y122Y,TMEM9:NM_001288564:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288566:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288567:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288568:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288569:exon5:c.T366C:p.Y122Y,TMEM9:NM_001288570:exon5:c.T375C:p.Y125Y,TMEM9:NM_001288571:exon5:c.T441C:p.Y147Y,TMEM9:NM_016456:exon5:c.T366C:p.Y122Y;Gencode=Name\x3eENST00000367333.6,ENST00000485839.6,ENST00000367332.5,ENST00000367330.5,ENST00000367334.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.6362;1000g2015aug_amr=0.7133;1000g2015aug_all=0.693091;esp6500siv2_all=0.7320;ExAC_ALL=0.7481;ExAC_AFR=0.6552;ExAC_AMR=0.7542;ExAC_EAS=0.6292;ExAC_FIN=0.7885;ExAC_NFE=0.7737;ExAC_OTH=0.7212;ExAC_SAS=0.7465;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2390,213,0 1 201113118 rs3738266 A G 3143.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.037;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=intronic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367330.5,ENST00000367334.9,ENST00000367333.6,ENST00000367332.5,ENST00000485839.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.9625;1000g2015aug_all=0.938698;esp6500siv2_all=0.9479;ExAC_ALL=0.9420;ExAC_AFR=0.9385;ExAC_AMR=0.9370;ExAC_EAS=0.8590;ExAC_FIN=0.9307;ExAC_NFE=0.9501;ExAC_OTH=0.9304;ExAC_SAS=0.9638;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3172,297,0 1 201113318 rs10920130 G A 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=intronic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367333.6,ENST00000367332.5,ENST00000485839.6,ENST00000367330.5,ENST00000367334.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3171;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.2622;1000g2015aug_all=0.307708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 201115822 rs3752978 A G 4329.77 PASS AC=2;AF=1;AN=2;DP=126;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=intronic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367333.6,ENST00000367332.5,ENST00000485839.6,ENST00000367330.5,ENST00000367334.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3752978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.317;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.2853;1000g2015aug_all=0.357228;esp6500siv2_all=0.3537;ExAC_ALL=0.3247;ExAC_AFR=0.4184;ExAC_AMR=0.2147;ExAC_EAS=0.3973;ExAC_FIN=0.3066;ExAC_NFE=0.3263;ExAC_OTH=0.3124;ExAC_SAS=0.3066;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,124:124:99:4358,373,0 1 201116018 rs3752979 C G 2246.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=intronic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367330.5,ENST00000367334.9,ENST00000367333.6,ENST00000367332.5,ENST00000485839.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3752979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.874;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9433;1000g2015aug_amr=0.9625;1000g2015aug_all=0.938698;esp6500siv2_all=0.9479;ExAC_ALL=0.9423;ExAC_AFR=0.9386;ExAC_AMR=0.9359;ExAC_EAS=0.8612;ExAC_FIN=0.9322;ExAC_NFE=0.9502;ExAC_OTH=0.9273;ExAC_SAS=0.9638;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2275,207,0 1 201122784 rs6684980 C T 1559.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=2.208;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=intronic;Gene=NM_001288564,NM_001288565,NM_001288566,NM_001288567,NM_001288568,NM_001288569,NM_001288570,NM_001288571,NM_016456;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367334.9,ENST00000367330.5,ENST00000485839.6,ENST00000367332.5,ENST00000367333.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6684980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.7644;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.7133;1000g2015aug_all=0.685903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1588,144,0 1 201122947 rs1925361 T G 3339.77 PASS AC=2;AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM9;Func=exonic;Gene=NM_001288571;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMEM9:NM_001288571:exon2:c.A105C:p.T35T;Gencode=Name\x3eENST00000367333.6,ENST00000367332.5,ENST00000485839.6,ENST00000367330.5,ENST00000367334.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1925361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.9663;1000g2015aug_eur=0.9543;1000g2015aug_afr=0.9455;1000g2015aug_amr=0.9625;1000g2015aug_all=0.939497;esp6500siv2_all=0.9476;ExAC_ALL=0.9443;ExAC_AFR=0.9419;ExAC_AMR=0.9394;ExAC_EAS=0.8703;ExAC_FIN=0.9328;ExAC_NFE=0.9509;ExAC_OTH=0.9340;ExAC_SAS=0.9659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3368,318,0 1 201163191 rs1107128 G T 552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.663;DP=52;ExcessHet=3.0103;FS=12.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.605;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1107128;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.5764;1000g2015aug_all=0.73742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,21:52:99:581,0,993 1 201163584 rs1568809 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1568809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.5487;1000g2015aug_afr=0.8147;1000g2015aug_amr=0.5692;1000g2015aug_all=0.731629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 201166124 rs12045948 T C 547.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.279;DP=37;ExcessHet=3.0103;FS=3.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.61;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e659\x3bName\x3e"354065:MIR(SINE)";avsnp150=rs12045948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.5;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.2839;1000g2015aug_all=0.410343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,20:37:99:576,0,462 1 201166281 rs7533096 C T 1974.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.236;DP=151;ExcessHet=3.0103;FS=3.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.425;SOR=0.456;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e414\x3bName\x3e"354066:L2c(LINE)";avsnp150=rs7533096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5347;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.4145;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.3213;1000g2015aug_all=0.503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,70:151:99:2003,0,2417 1 201166383 rs4915221 G A 2301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.15;DP=206;ExcessHet=3.0103;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.242;SOR=0.837;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon5:c.G305A:p.R102H;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8562;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.5547;1000g2015aug_afr=0.8101;1000g2015aug_amr=0.5735;1000g2015aug_all=0.732628;esp6500siv2_all=0.6301;ExAC_ALL=0.6733;ExAC_AFR=0.7762;ExAC_AMR=0.6;ExAC_EAS=0.8441;ExAC_FIN=0.6413;ExAC_NFE=0.5779;ExAC_OTH=0.7246;ExAC_SAS=0.7448;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.671;MutationTaster_pred=P;MutationAssessor_score=2.35;MutationAssessor_pred=M;FATHMM_score=0.93;FATHMM_pred=T;phyloP100way_vertebrate=0.894;phyloP20way_mammalian=-0.747;SiPhy_29way_logOdds=7.974;gerp++gt2=3.18;CADD=1.501;CADD_Phred=13.32;ALLELE_END GT:AD:DP:GQ:PL 0/1:113,92:205:99:2330,0,2981 1 201166435 rs11589317 T C 1916.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.136;DP=159;ExcessHet=3.0103;FS=0.601;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.995;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IGFN1:NM_001164586:exon5:c.T357C:p.T119T;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11589317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8552;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.9364;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.7939;1000g2015aug_all=0.867612;esp6500siv2_all=0.9054;ExAC_ALL=0.8957;ExAC_AFR=0.8564;ExAC_AMR=0.8488;ExAC_EAS=0.8413;ExAC_FIN=0.9462;ExAC_NFE=0.9181;ExAC_OTH=0.9138;ExAC_SAS=0.8795;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,71:158:99:1945,0,2440 1 201168195 rs12564101 C A 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e488\x3bName\x3e"354074:MER102a(DNA)";avsnp150=rs12564101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.256;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.2046;1000g2015aug_all=0.204872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 201170772 rs10157730 A G 1095.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.34;SOR=2.376;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10157730;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.956;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.8487;1000g2015aug_all=0.929513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1124,93,0 1 201170824 rs10158976 C G 1652.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.956;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.8487;1000g2015aug_all=0.929712;esp6500siv2_all=0.9179;ExAC_ALL=0.9385;ExAC_AFR=0.8825;ExAC_AMR=0.8853;ExAC_EAS=0.9984;ExAC_FIN=0.9618;ExAC_NFE=0.9348;ExAC_OTH=0.9549;ExAC_SAS=0.9523;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1681,150,0 1 201171007 rs10800762 T G 752.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.519;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7684;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.585;1000g2015aug_all=0.701478;esp6500siv2_all=0.6899;ExAC_ALL=0.7036;ExAC_AFR=0.5652;ExAC_AMR=0.6616;ExAC_EAS=0.9446;ExAC_FIN=0.8;ExAC_NFE=0.7192;ExAC_OTH=0.7393;ExAC_SAS=0.6860;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:781,72,0 1 201173104 rs832160 C T 3921.77 PASS AC=2;AF=1;AN=2;DP=126;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs832160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6587;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.5937;1000g2015aug_all=0.532548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,125:125:99:3950,373,0 1 201175274 rs9651057 A G 3808.77 PASS AC=2;AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=1.069;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.A1253G:p.Q418R;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9651057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.1467;1000g2015aug_amr=0.4063;1000g2015aug_all=0.375799;esp6500siv2_all=0.3844;ExAC_ALL=0.4033;ExAC_AFR=0.2019;ExAC_AMR=0.4387;ExAC_EAS=0.5788;ExAC_FIN=0.5641;ExAC_NFE=0.4572;ExAC_OTH=0.4826;ExAC_SAS=0.3518;SIFT_score=0.914;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.66;FATHMM_pred=T;phyloP100way_vertebrate=0.047;phyloP20way_mammalian=-0.912;SiPhy_29way_logOdds=1.399;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,110:110:99:3837,330,0 1 201176018 rs10753895 A G 1253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.483;DP=91;ExcessHet=3.0103;FS=0.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.259;SOR=0.604;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.A1997G:p.D666G;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753895;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.7464;1000g2015aug_all=0.763778;esp6500siv2_all=0.7510;ExAC_ALL=0.7515;ExAC_AFR=0.8416;ExAC_AMR=0.7368;ExAC_EAS=0.6988;ExAC_FIN=0.75;ExAC_NFE=0.7261;ExAC_OTH=0.7118;ExAC_SAS=0.7570;SIFT_score=0.594;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.77;FATHMM_pred=T;phyloP100way_vertebrate=-0.133;phyloP20way_mammalian=-0.637;SiPhy_29way_logOdds=3.508;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,42:91:99:1282,0,1534 1 201176711 rs12568690 G T 877.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.411;DP=78;ExcessHet=3.0103;FS=1.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.268;SOR=0.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.G2690T:p.G897V;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0922;1000g2015aug_all=0.0642971;esp6500siv2_all=0.0808;ExAC_ALL=0.0705;ExAC_AFR=0.0161;ExAC_AMR=0.0948;ExAC_EAS=0.0727;ExAC_FIN=0;ExAC_NFE=0.0989;ExAC_OTH=0.1118;ExAC_SAS=0.0558;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.86;FATHMM_pred=T;phyloP100way_vertebrate=-0.912;phyloP20way_mammalian=0.135;SiPhy_29way_logOdds=7.468;gerp++gt2=2.31;CADD=3.539;CADD_Phred=23.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,33:78:99:906,0,1298 1 201179050 rs1722732 A G 1821.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.836;DP=281;ExcessHet=3.0103;FS=25.991;MLEAC=1;MLEAF=0.5;MQ=55.09;MQRankSum=-12.523;QD=6.53;ReadPosRankSum=-1.101;SOR=1.949;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.A5029G:p.N1677D;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.914835\x3bName\x3echr1:201210660;Repeat=.;avsnp150=rs1722732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0984;ExAC_AFR=0.1542;ExAC_AMR=0.2714;ExAC_EAS=0.2523;ExAC_FIN=.;ExAC_NFE=0.1678;ExAC_OTH=0.1176;ExAC_SAS=0.0237;SIFT_score=0.412;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.33;FATHMM_pred=D;phyloP100way_vertebrate=-0.888;phyloP20way_mammalian=-4.522;SiPhy_29way_logOdds=4.650;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:215,64:279:99:1850,0,12300 1 201179068 rs199816935 G A 1552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.699;DP=269;ExcessHet=3.0103;FS=32.315;MLEAC=1;MLEAF=0.5;MQ=54.8;MQRankSum=-10.034;QD=5.82;ReadPosRankSum=-3.243;SOR=2.37;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.G5047A:p.G1683R;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.914835\x3bName\x3echr1:201210660;Repeat=.;avsnp150=rs199816935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=0.0784;ExAC_AFR=0.1103;ExAC_AMR=0.1818;ExAC_EAS=0.2177;ExAC_FIN=0;ExAC_NFE=0.1412;ExAC_OTH=0.0846;ExAC_SAS=0.0188;SIFT_score=0.391;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.65;FATHMM_pred=D;phyloP100way_vertebrate=-0.549;phyloP20way_mammalian=-0.912;SiPhy_29way_logOdds=4.761;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:214,53:267:99:1581,0,12815 1 201180269 rs61818163 G A 3011.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.574;DP=262;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.61;MQRankSum=0.891;QD=11.54;ReadPosRankSum=-0.094;SOR=0.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.G6248A:p.G2083E;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.914835\x3bName\x3echr1:201209472;Repeat=.;avsnp150=rs61818163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.0552;1000g2015aug_eur=0.1143;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0893;1000g2015aug_all=0.0638978;esp6500siv2_all=.;ExAC_ALL=0.0692;ExAC_AFR=0.0153;ExAC_AMR=0.0987;ExAC_EAS=0.0719;ExAC_FIN=0;ExAC_NFE=0.0968;ExAC_OTH=0.1131;ExAC_SAS=0.0546;SIFT_score=0.009;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-3.12;FATHMM_pred=D;phyloP100way_vertebrate=-1.531;phyloP20way_mammalian=-0.934;SiPhy_29way_logOdds=7.374;gerp++gt2=.;CADD=1.601;CADD_Phred=13.86;ALLELE_END GT:AD:DP:GQ:PL 0/1:137,124:261:99:3040,0,3699 1 201181223 rs12070919 A G 5810.77 PASS AC=2;AF=1;AN=2;DP=172;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=0.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon12:c.A7202G:p.N2401S;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12070919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9971;1000g2015aug_all=0.998003;esp6500siv2_all=0.9947;ExAC_ALL=0.9968;ExAC_AFR=0.9874;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9955;ExAC_OTH=0.9940;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.63;FATHMM_pred=T;phyloP100way_vertebrate=-0.196;phyloP20way_mammalian=0.035;SiPhy_29way_logOdds=8.825;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,171:171:99:5839,513,0 1 201184097 rs4915496 G A 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.316;DP=101;ExcessHet=3.0103;FS=0.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.297;SOR=0.686;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.2363;1000g2015aug_all=0.22504;esp6500siv2_all=0.2307;ExAC_ALL=0.2623;ExAC_AFR=0.1469;ExAC_AMR=0.2445;ExAC_EAS=0.2816;ExAC_FIN=0.3303;ExAC_NFE=0.2755;ExAC_OTH=0.2562;ExAC_SAS=0.2561;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,39:101:99:985,0,1605 1 201187764 rs10920144 T C 2612.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IGFN1:NM_001164586:exon18:c.T9876C:p.A3292A;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.8501;1000g2015aug_all=0.929712;esp6500siv2_all=0.9013;ExAC_ALL=0.8916;ExAC_AFR=0.9538;ExAC_AMR=0.8148;ExAC_EAS=0.9993;ExAC_FIN=0.9397;ExAC_NFE=0.8801;ExAC_OTH=0.8811;ExAC_SAS=0.8778;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2641,252,0 1 201187828 rs3738268 T C 2401.77 PASS AC=2;AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.8501;1000g2015aug_all=0.929513;esp6500siv2_all=0.9003;ExAC_ALL=0.8908;ExAC_AFR=0.9522;ExAC_AMR=0.8133;ExAC_EAS=0.9979;ExAC_FIN=0.9399;ExAC_NFE=0.8798;ExAC_OTH=0.8847;ExAC_SAS=0.8708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,77:77:99:2430,231,0 1 201187954 rs6667020 C T 419.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9121;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.9486;1000g2015aug_amr=0.8501;1000g2015aug_all=0.926917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:448,42,0 1 201190732 rs3738269 G A 2504.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.056;DP=196;ExcessHet=3.0103;FS=1.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.169;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IGFN1:NM_001164586:exon19:c.G10059A:p.V3353V;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.255;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.2694;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.2464;1000g2015aug_all=0.220647;esp6500siv2_all=0.2334;ExAC_ALL=0.2617;ExAC_AFR=0.1440;ExAC_AMR=0.2618;ExAC_EAS=0.2397;ExAC_FIN=0.3345;ExAC_NFE=0.2763;ExAC_OTH=0.2539;ExAC_SAS=0.2603;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:94,102:196:99:2533,0,2506 1 201191657 rs6427886 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000453155.1,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8986;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.853;1000g2015aug_all=0.923722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201193499 rs6687300 G T 135.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.6037;1000g2015aug_all=0.582468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:163,12,0 1 201193668 rs6687494 G T 901.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6687494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:930,75,0 1 201194174 rs12134361 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.8588;1000g2015aug_all=0.93111;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201195119 rs3738270 C T 1526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.25;DP=109;ExcessHet=3.0103;FS=3.521;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.929;SOR=0.689;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=exonic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IGFN1:NM_001164586:exon22:c.C10654T:p.H3552Y;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.6391;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.5893;1000g2015aug_all=0.567692;esp6500siv2_all=0.5407;ExAC_ALL=0.6315;ExAC_AFR=0.2792;ExAC_AMR=0.5636;ExAC_EAS=0.8222;ExAC_FIN=0.6606;ExAC_NFE=0.6722;ExAC_OTH=0.6609;ExAC_SAS=0.6219;SIFT_score=0.04;SIFT_pred=D;Polyphen2_HDIV_score=0.076;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.11;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0.5;MutationAssessor_pred=N;FATHMM_score=0.4;FATHMM_pred=T;phyloP100way_vertebrate=2.888;phyloP20way_mammalian=0.013;SiPhy_29way_logOdds=6.551;gerp++gt2=3.09;CADD=2.138;CADD_Phred=17.10;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,58:109:99:1555,0,1360 1 201195296 rs3738271 G A 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.252;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.17;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738271;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.1599;1000g2015aug_all=0.188898;esp6500siv2_all=0.1613;ExAC_ALL=0.1740;ExAC_AFR=0.2660;ExAC_AMR=0.1925;ExAC_EAS=0.1597;ExAC_FIN=0.1889;ExAC_NFE=0.1441;ExAC_OTH=0.1546;ExAC_SAS=0.2634;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,13:36:99:401,0,713 1 201195437 rs4915498 T A 142.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.96;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4915498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.908;1000g2015aug_eur=0.8917;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.8588;1000g2015aug_all=0.931909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:170,12,0 1 201197299 rs3753970 G A 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.105;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.79;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.182;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.2608;1000g2015aug_all=0.223243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:219,0,211 1 201197331 rs3753971 G A 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.794;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.669;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6657;1000g2015aug_sas=0.727;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.9274;1000g2015aug_amr=0.598;1000g2015aug_all=0.709265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:355,0,350 1 201197358 rs3753972 G C 346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.928;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e206\x3bName\x3e"354117:MIRb(SINE)";avsnp150=rs3753972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.2594;1000g2015aug_all=0.221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:375,0,437 1 201197471 rs3753973 T C 1001.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.389;DP=81;ExcessHet=3.0103;FS=1.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.128;SOR=0.984;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=intronic;Gene=NM_001164586;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000335211.8,ENST00000295591.12;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.2594;1000g2015aug_all=0.221246;esp6500siv2_all=0.2616;ExAC_ALL=0.2937;ExAC_AFR=0.0810;ExAC_AMR=0.2371;ExAC_EAS=0.2927;ExAC_FIN=0.3581;ExAC_NFE=0.3529;ExAC_OTH=0.3124;ExAC_SAS=0.2017;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,37:81:99:1030,0,1094 1 201197781 rs14061 C T 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.566;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIGFN1;Func=UTR3;Gene=NM_001164586;GeneDetail=NM_001164586:c.*254C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295591.12,ENST00000335211.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs14061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.18;1000g2015aug_eur=0.3668;1000g2015aug_afr=0.0371;1000g2015aug_amr=0.2579;1000g2015aug_all=0.221446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,104 1 201221577 rs9988601 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001164586,NM_000299;GeneDetail=dist\x3e23497\x3bdist\x3e31003;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9988601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3012;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.3516;1000g2015aug_all=0.428514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201221742 rs9988537 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001164586,NM_000299;GeneDetail=dist\x3e23662\x3bdist\x3e30838;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e388\x3bName\x3e"354149:MIRb(SINE)";avsnp150=rs9988537;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.7663;1000g2015aug_amr=0.3501;1000g2015aug_all=0.426717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201252701 rs861275 A T 102.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.484;SOR=0.269;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=UTR5;Gene=NM_000299,NM_001005337;GeneDetail=NM_000299:c.-130A>T\x3bNM_001005337:c.-130A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs861275;cosmic70=.;CLNALLELEID=279712;CLNDN=Ectodermal_dysplasia_skin_fragility_syndrome;CLNDISDB=MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9127;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.7378;1000g2015aug_all=0.613618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:131,0,286 1 201252866 rs2268147 C T 1515.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.13;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.372;SOR=0.731;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=exonic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKP1:NM_000299:exon1:c.C36T:p.Y12Y,PKP1:NM_001005337:exon1:c.C36T:p.Y12Y;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000367324.7,ENST00000352845.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2268147;cosmic70=.;CLNALLELEID=249662;CLNDN=Ectodermal_dysplasia_skin_fragility_syndrome|not_specified;CLNDISDB=MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.3828;1000g2015aug_amr=0.1052;1000g2015aug_all=0.180312;esp6500siv2_all=0.1736;ExAC_ALL=0.1217;ExAC_AFR=0.3493;ExAC_AMR=0.0890;ExAC_EAS=0.0730;ExAC_FIN=0.1339;ExAC_NFE=0.0890;ExAC_OTH=0.1107;ExAC_SAS=0.1552;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,58:107:99:1544,0,1248 1 201253281 rs854715 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs854715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9519;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.8896;1000g2015aug_amr=0.9467;1000g2015aug_all=0.94369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201261802 rs864402 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs864402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9939;1000g2015aug_amr=1;1000g2015aug_all=0.998403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 201285712 rs7514146 C T 1389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.108;DP=117;ExcessHet=3.0103;FS=2.399;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.373;SOR=0.999;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=exonic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PKP1:NM_000299:exon4:c.C733T:p.L245L,PKP1:NM_001005337:exon4:c.C733T:p.L245L;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7514146;cosmic70=.;CLNALLELEID=279742;CLNDN=Ectodermal_dysplasia_skin_fragility_syndrome;CLNDISDB=MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.0821;1000g2015aug_all=0.150958;esp6500siv2_all=0.1522;ExAC_ALL=0.1392;ExAC_AFR=0.3155;ExAC_AMR=0.0783;ExAC_EAS=0.0114;ExAC_FIN=0.1510;ExAC_NFE=0.1192;ExAC_OTH=0.1425;ExAC_SAS=0.1999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,58:116:99:1418,0,1471 1 201285909 rs1534051 A G 1078.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.3;SOR=3.841;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1534051;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.8012;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.7968;1000g2015aug_all=0.811502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1107,87,0 1 201286628 rs1772823 C G 336.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.673;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.305;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.9049;1000g2015aug_all=0.79353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,10:25:99:365,0,830 1 201288007 rs1794868 G A 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.736;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-0.596;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1794868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.4932;1000g2015aug_amr=0.9063;1000g2015aug_all=0.79373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:99:128,0,303 1 201288032 rs2002519 C T 170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=0.549;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000367324.7,ENST00000352845.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2002519;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.0807;1000g2015aug_all=0.144569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:57:199,0,57 1 201288898 rs1722759 A C 2953.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.66;SOR=1.845;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1722759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989417;esp6500siv2_all=0.9875;ExAC_ALL=0.9962;ExAC_AFR=0.9650;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2982,252,0 1 201289545 rs6427898 G A 982.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.005;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.022;SOR=0.606;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.0865;1000g2015aug_all=0.151558;esp6500siv2_all=0.1521;ExAC_ALL=0.1193;ExAC_AFR=0.2917;ExAC_AMR=0.0656;ExAC_EAS=0.0100;ExAC_FIN=0.1125;ExAC_NFE=0.1011;ExAC_OTH=0.1306;ExAC_SAS=0.1766;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,40:85:99:1011,0,1177 1 201289646 rs1628711 T C 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.451;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.656;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1628711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8088;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.9006;1000g2015aug_all=0.793131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:311,0,397 1 201289691 rs6427899 C A 261.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=-1.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e459\x3bName\x3e"354255:MIR(SINE)";avsnp150=rs6427899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.0865;1000g2015aug_all=0.145567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:290,0,170 1 201290968 rs1779292 T G 904.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:933,72,0 1 201290985 rs12122545 C T 390.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.229;DP=30;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.272;SOR=1.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.0807;1000g2015aug_all=0.131589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:419,0,517 1 201291066 rs2071960 C T 811.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.779;DP=77;ExcessHet=3.0103;FS=3.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.58;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000367324.7,ENST00000352845.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7599;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.3759;1000g2015aug_amr=0.7118;1000g2015aug_all=0.628594;esp6500siv2_all=0.6049;ExAC_ALL=0.6768;ExAC_AFR=0.4197;ExAC_AMR=0.6991;ExAC_EAS=0.7610;ExAC_FIN=0.7123;ExAC_NFE=0.6910;ExAC_OTH=0.6857;ExAC_SAS=0.7068;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,33:77:99:840,0,1266 1 201292017 rs115188989 G A 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=0.071;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115188989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.0821;1000g2015aug_all=0.13758;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 201292092 rs74525695 C T 465.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.155;DP=43;ExcessHet=3.0103;FS=1.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-1.04;SOR=0.434;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74525695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.0893;1000g2015aug_all=0.157548;esp6500siv2_all=0.1557;ExAC_ALL=0.1134;ExAC_AFR=0.2925;ExAC_AMR=0.0609;ExAC_EAS=0.0085;ExAC_FIN=0.1079;ExAC_NFE=0.0950;ExAC_OTH=0.1247;ExAC_SAS=0.1753;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,19:43:99:494,0,669 1 201292110 rs1779288 T C 1978.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=1.938;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622031.4,ENST00000263946.7,ENST00000367324.7,ENST00000352845.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989417;esp6500siv2_all=0.9879;ExAC_ALL=0.9963;ExAC_AFR=0.9660;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9989;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:2007,159,0 1 201292488 rs2239845 C T 50.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2239845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.7014;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.3767;1000g2015aug_amr=0.7133;1000g2015aug_all=0.628794;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:18:79,0,18 1 201293970 rs1620046 C T 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367324.7,ENST00000352845.3,ENST00000263946.7,ENST00000622031.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1620046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.987;1000g2015aug_all=0.944489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 201293985 rs854505 G A 803.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs854505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.7349;1000g2015aug_all=0.686701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:832,66,0 1 201294418 rs16848325 C T 101.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.876;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.888;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622031.4,ENST00000263946.7,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16848325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.0994;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.0893;1000g2015aug_all=0.157548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:130,0,218 1 201294592 rs1722740 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622031.4,ENST00000263946.7,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1722740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9957;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 201295107 rs16848334 C T 843.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.296;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=0.904;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622031.4,ENST00000263946.7,ENST00000367324.7,ENST00000352845.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16848334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.1004;1000g2015aug_afr=0.329;1000g2015aug_amr=0.0893;1000g2015aug_all=0.158147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,27:45:99:872,0,568 1 201295501 rs1722741 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352845.3,ENST00000367324.7,ENST00000622031.4,ENST00000263946.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1722741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.8977;1000g2015aug_all=0.786741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201297667 rs1023487 C A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=-1.282;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePKP1;Func=intronic;Gene=NM_000299,NM_001005337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000263946.7,ENST00000622031.4,ENST00000352845.3,ENST00000367324.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1023487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1944;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.2205;1000g2015aug_all=0.266573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 201328824 rs2275863 G A 1643.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.664;DP=133;ExcessHet=3.0103;FS=7.826;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.434;SOR=0.485;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421663.6,ENST00000367320.6,ENST00000236918.11,ENST00000367315.6,ENST00000367317.8,ENST00000458432.6,ENST00000509001.5,ENST00000367322.5,ENST00000360372.8,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275863;cosmic70=.;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.5439;1000g2015aug_amr=0.1023;1000g2015aug_all=0.277157;esp6500siv2_all=0.2247;ExAC_ALL=0.2084;ExAC_AFR=0.5048;ExAC_AMR=0.1369;ExAC_EAS=0.3233;ExAC_FIN=0.2040;ExAC_NFE=0.1326;ExAC_OTH=0.1676;ExAC_SAS=0.2180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,67:133:99:1672,0,1800 1 201328913 rs45509695 G C 1014.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.713;DP=65;ExcessHet=3.0103;FS=1.183;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.047;SOR=0.422;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360372.8,ENST00000367322.5,ENST00000367318.9,ENST00000367317.8,ENST00000367315.6,ENST00000509001.5,ENST00000458432.6,ENST00000367320.6,ENST00000421663.6,ENST00000236918.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"354315:GA-rich(Low_complexity)";avsnp150=rs45509695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.1023;1000g2015aug_all=0.277955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,37:65:99:1043,0,836 1 201330226 rs12564577 G A 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000458432.6,ENST00000509001.5,ENST00000367315.6,ENST00000367317.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12564577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.1778;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0984425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 201330429 rs3730238 T C 484.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.98;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.222;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=exonic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TNNT2:NM_001001432:exon12:c.A740G:p.K247R,TNNT2:NM_001001431:exon13:c.A749G:p.K250R,TNNT2:NM_001276346:exon13:c.A659G:p.K220R,TNNT2:NM_000364:exon14:c.A779G:p.K260R,TNNT2:NM_001001430:exon14:c.A758G:p.K253R,TNNT2:NM_001276347:exon14:c.A758G:p.K253R,TNNT2:NM_001276345:exon15:c.A788G:p.K263R;Gencode=Name\x3eENST00000367315.6,ENST00000367317.8,ENST00000509001.5,ENST00000458432.6,ENST00000367320.6,ENST00000421663.6,ENST00000236918.11,ENST00000360372.8,ENST00000367322.5,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3730238;cosmic70=.;CLNALLELEID=52838;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.174;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0974441;esp6500siv2_all=0.0602;ExAC_ALL=0.0507;ExAC_AFR=0.1527;ExAC_AMR=0.0232;ExAC_EAS=0.0476;ExAC_FIN=0.0517;ExAC_NFE=0.0162;ExAC_OTH=0.0540;ExAC_SAS=0.1464;SIFT_score=0.123;SIFT_pred=T;Polyphen2_HDIV_score=0.196;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.118;Polyphen2_HVAR_pred=B;LRT_score=0.087;LRT_pred=N;MutationTaster_score=0.053;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_pred=L;FATHMM_score=-2.27;FATHMM_pred=D;phyloP100way_vertebrate=4.039;phyloP20way_mammalian=1.058;SiPhy_29way_logOdds=5.509;gerp++gt2=2.57;CADD=2.213;CADD_Phred=17.60;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:513,0,778 1 201330583 rs2275861 A G 260.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.232;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=0.111;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000458432.6,ENST00000509001.5,ENST00000367315.6,ENST00000367317.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2976;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.0879;1000g2015aug_all=0.170927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,179 1 201330729 rs3730240 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367320.6,ENST00000421663.6,ENST00000236918.11,ENST00000367315.6,ENST00000367317.8,ENST00000509001.5,ENST00000458432.6,ENST00000360372.8,ENST00000367322.5,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3730240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.0219;1000g2015aug_afr=0.174;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0974441;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 201331335 rs11807637 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=8.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.652;SOR=2.788;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000360372.8,ENST00000367322.5,ENST00000236918.11,ENST00000367320.6,ENST00000421663.6,ENST00000509001.5,ENST00000458432.6,ENST00000367317.8,ENST00000367315.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11807637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.0879;1000g2015aug_all=0.165535;esp6500siv2_all=0.1450;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 201331379 rs11806184 T C 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=8.921;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=1.074;SOR=3.841;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000458432.6,ENST00000509001.5,ENST00000367317.8,ENST00000367315.6,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11806184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.0865;1000g2015aug_all=0.165335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 201331554 rs1104859 T G 822.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.469;DP=78;ExcessHet=3.0103;FS=1.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.195;SOR=0.917;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367317.8,ENST00000367315.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"354320:(AGAGAC)n(Simple_repeat)";avsnp150=rs1104859;cosmic70=.;CLNALLELEID=249665;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.7983;1000g2015aug_all=0.742212;esp6500siv2_all=0.7341;ExAC_ALL=0.7335;ExAC_AFR=0.7719;ExAC_AMR=0.7735;ExAC_EAS=0.5510;ExAC_FIN=0.7966;ExAC_NFE=0.7142;ExAC_OTH=0.7810;ExAC_SAS=0.8266;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,34:77:99:851,0,1093 1 201332886 rs1892026 G T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367315.6,ENST00000367317.8,ENST00000509001.5,ENST00000458432.6,ENST00000367320.6,ENST00000421663.6,ENST00000236918.11,ENST00000360372.8,ENST00000367322.5,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.7997;1000g2015aug_all=0.698083;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 201333308 rs2001410 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.18;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000236918.11,ENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367317.8,ENST00000367315.6,ENST00000367318.9,ENST00000367322.5,ENST00000360372.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2356\x3bName\x3e"354325:AluSp(SINE)";avsnp150=rs2001410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0685;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.0865;1000g2015aug_all=0.166534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,223 1 201333703 rs2275860 C T 501.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.757;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.725;SOR=0.576;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000360372.8,ENST00000367322.5,ENST00000509001.5,ENST00000458432.6,ENST00000367315.6,ENST00000367317.8,ENST00000236918.11,ENST00000367320.6,ENST00000421663.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.0706;1000g2015aug_all=0.063099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:530,0,581 1 201334382 rs3729547 G A 576.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.053;DP=51;ExcessHet=3.0103;FS=4.108;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.156;SOR=0.281;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=exonic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276347;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000458432.6,ENST00000509001.5,ENST00000367317.8,ENST00000367315.6,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3729547;cosmic70=.;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.7997;1000g2015aug_all=0.695088;esp6500siv2_all=0.6828;ExAC_ALL=0.7194;ExAC_AFR=0.6243;ExAC_AMR=0.7690;ExAC_EAS=0.5480;ExAC_FIN=0.7971;ExAC_NFE=0.7147;ExAC_OTH=0.7775;ExAC_SAS=0.8187;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,23:50:99:605,0,807 1 201335899 rs1573230 C T 772.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367317.8,ENST00000367315.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1573230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9971;1000g2015aug_all=0.98143;esp6500siv2_all=0.9761;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:801,63,0 1 201337170 rs3729842 A G 576.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000509001.5,ENST00000458432.6,ENST00000367315.6,ENST00000367317.8,ENST00000236918.11,ENST00000367320.6,ENST00000421663.6,ENST00000367318.9,ENST00000360372.8,ENST00000367322.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3729842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8284;1000g2015aug_sas=0.907;1000g2015aug_eur=0.829;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.8862;1000g2015aug_all=0.86222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:605,54,0 1 201338553 rs10800776 T C 579.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.765;DP=33;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=1.011;SOR=0.327;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367317.8,ENST00000367315.6,ENST00000509001.5,ENST00000458432.6,ENST00000367320.6,ENST00000421663.6,ENST00000236918.11,ENST00000360372.8,ENST00000367322.5,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.7799;1000g2015aug_amr=0.8012;1000g2015aug_all=0.734625;esp6500siv2_all=0.7269;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,21:33:99:608,0,332 1 201339044 rs45584633 G A 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.68;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-1.043;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367315.6,ENST00000367317.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45584633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.0545;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0678914;esp6500siv2_all=0.0905;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,15:46:99:408,0,782 1 201341341 rs868407 C T 864.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.028;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.497;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367318.9,ENST00000367322.5,ENST00000360372.8,ENST00000236918.11,ENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367315.6,ENST00000367317.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"354335:(CA)n(Simple_repeat)";avsnp150=rs868407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.7465;1000g2015aug_afr=0.7421;1000g2015aug_amr=0.8127;1000g2015aug_all=0.771765;esp6500siv2_all=0.7208;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,34:57:99:893,0,551 1 201342560 rs12567382 T C 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-0.632;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000458432.6,ENST00000509001.5,ENST00000421663.6,ENST00000367320.6,ENST00000367322.5,ENST00000367318.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e220\x3bName\x3e"354336:MIRb(SINE)";avsnp150=rs12567382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.0239;1000g2015aug_afr=0.2292;1000g2015aug_amr=0.0331;1000g2015aug_all=0.11242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:292,0,208 1 201342656 rs12568262 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNT2;Func=intronic;Gene=NM_000364,NM_001001430,NM_001001431,NM_001001432,NM_001276345,NM_001276346,NM_001276347;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000421663.6,ENST00000367320.6,ENST00000458432.6,ENST00000509001.5,ENST00000367318.9,ENST00000367322.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.0239;1000g2015aug_afr=0.2284;1000g2015aug_amr=0.0331;1000g2015aug_all=0.112021;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201351421 rs2275866 T A 945.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.909;DP=81;ExcessHet=3.0103;FS=0.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=1.065;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAD1;Func=exonic;Gene=NM_005558;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAD1:NM_005558:exon9:c.A1507T:p.T503S;Gencode=Name\x3eENST00000367313.4,ENST00000391967.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0605;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.0716;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0457268;esp6500siv2_all=0.0618;ExAC_ALL=0.0720;ExAC_AFR=0.0184;ExAC_AMR=0.0726;ExAC_EAS=0.0651;ExAC_FIN=0.0493;ExAC_NFE=0.0863;ExAC_OTH=0.0519;ExAC_SAS=0.0614;SIFT_score=0.399;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.124;Polyphen2_HVAR_pred=B;LRT_score=0.209;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=2.52;MutationAssessor_pred=M;FATHMM_score=0.96;FATHMM_pred=T;phyloP100way_vertebrate=0.064;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=3.250;gerp++gt2=.;CADD=1.117;CADD_Phred=11.31;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,38:81:99:974,0,1065 1 201355522 rs4128458 T C 662.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAD1;Func=exonic;Gene=NM_005558;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAD1:NM_005558:exon3:c.A967G:p.K323E;Gencode=Name\x3eENST00000391967.6,ENST00000367313.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4128458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.364;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.3847;1000g2015aug_all=0.553115;esp6500siv2_all=0.5953;ExAC_ALL=0.5229;ExAC_AFR=0.8224;ExAC_AMR=0.3619;ExAC_EAS=0.5384;ExAC_FIN=0.5098;ExAC_NFE=0.5149;ExAC_OTH=0.5120;ExAC_SAS=0.4093;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.902;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.75;MutationAssessor_pred=N;FATHMM_score=2.88;FATHMM_pred=T;phyloP100way_vertebrate=1.159;phyloP20way_mammalian=0.027;SiPhy_29way_logOdds=6.814;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:691,57,0 1 201355943 rs2799677 C T 1127.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAD1;Func=exonic;Gene=NM_005558;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAD1:NM_005558:exon3:c.G546A:p.K182K;Gencode=Name\x3eENST00000391967.6,ENST00000367313.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.363;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.7474;1000g2015aug_amr=0.3775;1000g2015aug_all=0.517572;esp6500siv2_all=0.5567;ExAC_ALL=0.4814;ExAC_AFR=0.7095;ExAC_AMR=0.3261;ExAC_EAS=0.5141;ExAC_FIN=0.4855;ExAC_NFE=0.4932;ExAC_OTH=0.4692;ExAC_SAS=0.3814;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1156,101,0 1 201358304 rs3738281 C A 2079.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.75;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAD1;Func=exonic;Gene=NM_005558;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAD1:NM_005558:exon2:c.G166T:p.A56S;Gencode=Name\x3eENST00000367313.4,ENST00000391967.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.0944;1000g2015aug_afr=0.357;1000g2015aug_amr=0.0735;1000g2015aug_all=0.177716;esp6500siv2_all=0.1751;ExAC_ALL=0.1338;ExAC_AFR=0.3180;ExAC_AMR=0.0988;ExAC_EAS=0.1163;ExAC_FIN=0.1246;ExAC_NFE=0.1082;ExAC_OTH=0.1197;ExAC_SAS=0.1591;SIFT_score=0.943;SIFT_pred=T;Polyphen2_HDIV_score=0.038;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_pred=B;LRT_score=0.369;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=2.77;FATHMM_pred=T;phyloP100way_vertebrate=-1.189;phyloP20way_mammalian=-1.660;SiPhy_29way_logOdds=5.229;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2108,210,0 1 201360379 rs60465361 T C 404.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAD1;Func=intronic;Gene=NM_005558;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367313.4,ENST00000391967.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60465361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.1902;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.1138;1000g2015aug_all=0.276957;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:433,36,0 1 201374677 rs2799680 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI1;Func=UTR3;Gene=NM_003281;GeneDetail=NM_003281:c.*3704T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622580.4,ENST00000361379.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.6952;1000g2015aug_amr=0.3631;1000g2015aug_all=0.475839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201381603 rs1022972 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI1;Func=intronic;Gene=NM_003281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000555948.5,ENST00000622580.4,ENST00000361379.8,ENST00000367312.5,ENST00000336092.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1022972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.8797;1000g2015aug_afr=0.7383;1000g2015aug_amr=0.8718;1000g2015aug_all=0.805711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201383616 rs2026593 A G 446.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.28;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI1;Func=intronic;Gene=NM_003281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361379.8,ENST00000367312.5,ENST00000336092.8,ENST00000555948.5,ENST00000622580.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"354411:(CCACC)n(Simple_repeat)";avsnp150=rs2026593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.853;1000g2015aug_all=0.777756;esp6500siv2_all=0.8375;ExAC_ALL=0.8728;ExAC_AFR=0.7921;ExAC_AMR=0.9220;ExAC_EAS=0.7965;ExAC_FIN=0.8903;ExAC_NFE=0.8967;ExAC_OTH=0.8624;ExAC_SAS=0.8377;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:50:475,50,0 1 201383643 rs2026594 A C 613.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTNNI1;Func=intronic;Gene=NM_003281;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361379.8,ENST00000367312.5,ENST00000336092.8,ENST00000555948.5,ENST00000622580.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2026594;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.7648;1000g2015aug_eur=0.8618;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.853;1000g2015aug_all=0.778155;esp6500siv2_all=0.8209;ExAC_ALL=0.8501;ExAC_AFR=0.7683;ExAC_AMR=0.9004;ExAC_EAS=0.7647;ExAC_FIN=0.8534;ExAC_NFE=0.8731;ExAC_OTH=0.8436;ExAC_SAS=0.8155;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:62:642,62,0 1 201397373 rs12088123 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003281,NM_012396;GeneDetail=dist\x3e6499\x3bdist\x3e36039;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336092.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12088123;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.2663;1000g2015aug_amr=0.5086;1000g2015aug_all=0.36861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201422201 rs10920205 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003281,NM_012396;GeneDetail=dist\x3e31327\x3bdist\x3e11211;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.5;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201429085 rs6427908 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003281,NM_012396;GeneDetail=dist\x3e38211\x3bdist\x3e4327;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8458;1000g2015aug_all=0.871805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 201434740 rs1053592 G A 301.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.008;DP=37;ExcessHet=3.0103;FS=5.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.031;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePHLDA3;Func=UTR3;Gene=NM_012396;GeneDetail=NM_012396:c.*629C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367311.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1053592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.32;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.4236;1000g2015aug_amr=0.464;1000g2015aug_all=0.38119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,14:37:99:330,0,714 1 201453289 rs576697 T C 1141.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=5.353;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSRP1;Func=UTR3;Gene=NM_001193570,NM_001193571,NM_001193572,NM_004078;GeneDetail=NM_001193570:c.*552A>G\x3bNM_001193571:c.*552A>G\x3bNM_001193572:c.*552A>G\x3bNM_004078:c.*552A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340006.6,ENST00000531916.5,ENST00000367306.5,ENST00000532460.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs576697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.9251;1000g2015aug_all=0.864617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1170,87,0 1 201459621 rs927901 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSRP1;Func=intronic;Gene=NM_001193570,NM_001193571,NM_001193572,NM_004078;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367306.5,ENST00000526256.5,ENST00000526723.5,ENST00000533432.5,ENST00000532460.5,ENST00000340006.6,ENST00000531916.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs927901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.1762;1000g2015aug_amr=0.3761;1000g2015aug_all=0.32488;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 201473993 rs12076215 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSRP1;Func=intronic;Gene=NM_001193570,NM_001193571,NM_004078;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000531916.5,ENST00000340006.6,ENST00000533432.5,ENST00000526256.5,ENST00000526723.5,ENST00000367306.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2271\x3bName\x3e"354620:AluSx1(SINE)";avsnp150=rs12076215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0952;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.6441;1000g2015aug_afr=0.4705;1000g2015aug_amr=0.3919;1000g2015aug_all=0.365016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 201474682 rs2210732 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSRP1;Func=intronic;Gene=NM_001193570,NM_001193571,NM_004078;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340006.6,ENST00000531916.5,ENST00000526723.5,ENST00000526256.5,ENST00000367306.5,ENST00000533432.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2210732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.4207;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201474690 rs3767526 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCSRP1;Func=intronic;Gene=NM_001193570,NM_001193571,NM_004078;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000533432.5,ENST00000367306.5,ENST00000526256.5,ENST00000526723.5,ENST00000531916.5,ENST00000340006.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.4207;1000g2015aug_all=0.394768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201478276 rs3767525 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001193570,NR_026667;GeneDetail=dist\x3e1889\x3bdist\x3e10756;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367306.5,ENST00000454651.1,ENST00000531916.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e361\x3bName\x3e"354625:MER94(DNA)";avsnp150=rs3767525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.137;1000g2015aug_eur=0.328;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.183;1000g2015aug_all=0.146366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201478285 rs3767524 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001193570,NR_026667;GeneDetail=dist\x3e1898\x3bdist\x3e10747;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454651.1,ENST00000367306.5,ENST00000531916.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e361\x3bName\x3e"354625:MER94(DNA)";avsnp150=rs3767524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.4418;1000g2015aug_amr=0.415;1000g2015aug_all=0.382987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201489286 rs4310467 C G 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.394;DP=41;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.781;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS10P7;Func=ncRNA_exonic;Gene=NR_026667;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441932.1,ENST00000454651.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4310467;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.1391;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.034;1000g2015aug_amr=0.1916;1000g2015aug_all=0.14976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,17:41:99:405,0,647 1 201489565 rs4345829 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.674;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS10P7;Func=ncRNA_exonic;Gene=NR_026667;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454651.1,ENST00000441932.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4345829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.183;1000g2015aug_eur=0.5775;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.3329;1000g2015aug_all=0.252396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:81,0,30 1 201490441 rs113780383 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_026667;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441932.1,ENST00000454651.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"354661:(TTATAT)n(Simple_repeat)";avsnp150=rs113780383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0298;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0161741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201497056 rs58909817 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026667,NM_020443;GeneDetail=dist\x3e7336\x3bdist\x3e120394;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441932.1,ENST00000454651.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2292\x3bName\x3e"354689:AluSq4(SINE)";avsnp150=rs58909817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0883;1000g2015aug_sas=0.184;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.3199;1000g2015aug_all=0.279153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201566875 rs74675471 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.674;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026667,NM_020443;GeneDetail=dist\x3e77155\x3bdist\x3e50575;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74675471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0164;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0317492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 201573591 rs1267139 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026667,NM_020443;GeneDetail=dist\x3e83871\x3bdist\x3e43859;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2149\x3bName\x3e"354866:AluSz(SINE)";avsnp150=rs1267139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.3372;1000g2015aug_all=0.327476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 201615519 rs659470 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026667,NM_020443;GeneDetail=dist\x3e125799\x3bdist\x3e1931;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.8215;1000g2015aug_amr=0.8184;1000g2015aug_all=0.702276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 201618264 rs1267119 C T 3131.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.192;DP=273;ExcessHet=3.0103;FS=4.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.829;SOR=0.817;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1;Func=exonic;Gene=NM_020443;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NAV1:NM_020443:exon1:c.C468T:p.G156G;Gencode=Name\x3eENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1267119;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0409;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.0346;1000g2015aug_all=0.052516;esp6500siv2_all=0.0877;ExAC_ALL=0.0674;ExAC_AFR=0.1236;ExAC_AMR=0.0268;ExAC_EAS=0.0007;ExAC_FIN=0.0421;ExAC_NFE=0.0819;ExAC_OTH=0.0599;ExAC_SAS=0.0526;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:161,112:273:99:3160,0,4551 1 201652769 rs624041 C G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1;Func=intronic;Gene=NM_020443;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1793\x3bName\x3e"355015:MER1B(DNA)";avsnp150=rs624041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9177;1000g2015aug_sas=0.9233;1000g2015aug_eur=0.836;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.915;1000g2015aug_all=0.875799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 201687406 rs11588142 G A 611.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.071;DP=35;ExcessHet=3.0103;FS=6.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=-0.433;SOR=1.949;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.092;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.2939;1000g2015aug_all=0.158546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:640,0,418 1 201687451 rs11576721 A G 897.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.102;DP=57;ExcessHet=3.0103;FS=2.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.169;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367296.8,ENST00000367302.5,ENST00000413035.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5952;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.5174;1000g2015aug_amr=0.7133;1000g2015aug_all=0.572085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,32:57:99:926,0,691 1 201688515 rs9662744 T A 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-1.036;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,NAV1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9662744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.092;1000g2015aug_eur=0.325;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.3127;1000g2015aug_all=0.195887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:73:73,0,107 1 201688832 rs67974334 T C 89.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=10;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.198;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67974334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2361;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.329;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.3458;1000g2015aug_all=0.234026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:118,0,103 1 201688897 rs11811659 T C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11811659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.7205;1000g2015aug_all=0.588458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 201749520 rs529581 G C 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.757;DP=43;ExcessHet=3.0103;FS=2.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.675;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367295.5,ENST00000413035.5,ENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs529581;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3075;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.428;1000g2015aug_all=0.290335;esp6500siv2_all=0.3196;ExAC_ALL=0.3588;ExAC_AFR=0.1658;ExAC_AMR=0.4939;ExAC_EAS=0.3117;ExAC_FIN=0.3880;ExAC_NFE=0.3971;ExAC_OTH=0.3642;ExAC_SAS=0.2436;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,15:43:99:395,0,790 1 201750492 rs536373284 C T 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=1.072;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367296.8,ENST00000367302.5,ENST00000413035.5,ENST00000367295.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs536373284;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,217 1 201752164 rs552840 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367295.5,ENST00000413035.5,ENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs552840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.6498;1000g2015aug_amr=0.5043;1000g2015aug_all=0.454673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 201752429 rs527725 A C 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-1.025;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367295.5,ENST00000413035.5,ENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.146;1000g2015aug_amr=0.428;1000g2015aug_all=0.285543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 201754720 rs903676 G A 579.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=2.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,NAV1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367296.8,ENST00000367302.5,ENST00000413035.5,ENST00000367295.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903676;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.5477;1000g2015aug_amr=0.2349;1000g2015aug_all=0.276158;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:608,51,0 1 201773731 rs1400874 T A 148.77 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.75;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNAV1,IPO9-AS1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367295.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1400874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:147,15,0 1 201780458 rs1878610 G A 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,NAV1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367295.5,ENST00000413035.5,ENST00000367302.5,ENST00000367296.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1878610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.9942;1000g2015aug_all=0.965256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 201783489 rs2176481 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,NAV1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367295.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1746\x3bName\x3e"355239:AluJb(SINE)";avsnp150=rs2176481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.944;1000g2015aug_amr=0.9971;1000g2015aug_all=0.984824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201788804 rs11803449 G A 292.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.71;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,NAV1;Func=ncRNA_intronic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413035.5,ENST00000367295.5,ENST00000367296.8,ENST00000367302.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1434\x3bName\x3e"355257:AluJr(SINE)";avsnp150=rs11803449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.27;1000g2015aug_amr=0.1931;1000g2015aug_all=0.27496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:321,24,0 1 201798650 rs11585549 T A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9-AS1,IPO9;Func=ncRNA_exonic;Gene=NR_046696;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361565.8,ENST00000413035.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0194;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.036;1000g2015aug_all=0.0307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 201824390 rs11576508 G A 1932.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9;Func=intronic;Gene=NM_018085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361565.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.3919;1000g2015aug_all=0.297324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1961,180,0 1 201832451 rs2678206 T G 480.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.1;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9;Func=intronic;Gene=NM_018085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361565.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2277\x3bName\x3e"355326:AluSx1(SINE)";avsnp150=rs2678206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8933;1000g2015aug_amr=0.9957;1000g2015aug_all=0.971246;esp6500siv2_all=.;ExAC_ALL=0.9906;ExAC_AFR=0.9010;ExAC_AMR=0.9962;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9958;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:509,39,0 1 201840464 rs2644124 T C 1275.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=2.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9;Func=intronic;Gene=NM_018085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361565.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.972;1000g2015aug_amr=0.9986;1000g2015aug_all=0.992412;esp6500siv2_all=0.9934;ExAC_ALL=0.9980;ExAC_AFR=0.9775;ExAC_AMR=0.9991;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1304,111,0 1 201844128 rs2678203 G A 1635.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIPO9;Func=intronic;Gene=NM_018085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361565.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2678203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8918;1000g2015aug_amr=0.9957;1000g2015aug_all=0.970847;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1664,144,0 1 201860626 rs2250377 A G 1741.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.287;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHISA4;Func=exonic;Gene=NM_198149;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SHISA4:NM_198149:exon4:c.A477G:p.I159M;Gencode=Name\x3eENST00000362011.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2250377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.8041;1000g2015aug_amr=0.7767;1000g2015aug_all=0.784345;esp6500siv2_all=0.7184;ExAC_ALL=0.7233;ExAC_AFR=0.7872;ExAC_AMR=0.7401;ExAC_EAS=0.8979;ExAC_FIN=0.6999;ExAC_NFE=0.6903;ExAC_OTH=0.7401;ExAC_SAS=0.7220;SIFT_score=0.489;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.009;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=1.500;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=12.278;gerp++gt2=5.46;CADD=2.415;CADD_Phred=18.92;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1770,159,0 1 201861016 rs2279681 C G 370.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSHISA4;Func=UTR3;Gene=NM_198149;GeneDetail=NM_198149:c.*42C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000362011.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2279681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.2262;1000g2015aug_all=0.298522;esp6500siv2_all=0.3298;ExAC_ALL=0.3225;ExAC_AFR=0.2900;ExAC_AMR=0.2162;ExAC_EAS=0.3650;ExAC_FIN=0.3314;ExAC_NFE=0.3534;ExAC_OTH=0.3128;ExAC_SAS=0.2675;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:399,36,0 1 201865763 rs8028 A G 2969.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMOD1;Func=UTR3;Gene=NM_012134;GeneDetail=NM_012134:c.*1737T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367288.4,ENST00000616739.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.7362;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.7738;1000g2015aug_all=0.784145;esp6500siv2_all=.;ExAC_ALL=0.7281;ExAC_AFR=0.7818;ExAC_AMR=0.6862;ExAC_EAS=0.915;ExAC_FIN=0.6977;ExAC_NFE=0.7550;ExAC_OTH=0.7663;ExAC_SAS=0.7118;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:2998,281,0 1 201915658 rs2819371 A C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLMOD1;Func=UTR5;Gene=NM_012134;GeneDetail=NM_012134:c.-190T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616739.1,ENST00000367288.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.705;1000g2015aug_amr=0.9841;1000g2015aug_all=0.919728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 201923805 rs2820306 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_006335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.2046;1000g2015aug_all=0.346046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201926169 rs2819374 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIMM17A;Func=intronic;Gene=NM_006335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367287.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.9798;1000g2015aug_all=0.914337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 201933008 rs2790899 C T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-0.536;SOR=0.035;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTIMM17A;Func=intronic;Gene=NM_006335;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367287.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1153\x3bName\x3e"355546:AluJo(SINE)";avsnp150=rs2790899;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3373;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.4662;1000g2015aug_afr=0.208;1000g2015aug_amr=0.2608;1000g2015aug_all=0.351238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,258 1 201947787 rs61821526 G A 545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.558;DP=39;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.52;SOR=0.458;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_145769;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61821526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.2233;1000g2015aug_all=0.300919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,19:39:99:574,0,582 1 201947896 rs11577550 C T 360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.253;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.52;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.636;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_145769;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2103;1000g2015aug_sas=0.047;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.143;1000g2015aug_amr=0.2334;1000g2015aug_all=0.157548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:389,0,481 1 201948006 rs61821527 G T 71.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.191;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=0.456;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_145769;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61821527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2966;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.3746;1000g2015aug_all=0.376597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:100,0,191 1 201952294 rs73074403 C G 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.707;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.509;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367286.7,ENST00000295640.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73074403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.451;1000g2015aug_all=0.513179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:219,0,730 1 201952310 rs112370844 T G 190.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.707;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.358;SOR=2.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367286.7,ENST00000295640.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112370844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5169;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.451;1000g2015aug_all=0.513379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,6:17:99:219,0,730 1 201952574 rs4950806 T C 406.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.849;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.073;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=UTR5;Gene=NM_001319182;GeneDetail=NM_001319182:c.-17T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295640.8,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eButyrylcholinesterase_levels;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.4654;1000g2015aug_all=0.564097;esp6500siv2_all=.;ExAC_ALL=0.5896;ExAC_AFR=0.6196;ExAC_AMR=0.5034;ExAC_EAS=0.5;ExAC_FIN=0.6077;ExAC_NFE=0.5829;ExAC_OTH=0.5485;ExAC_SAS=0.5969;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,17:31:99:435,0,371 1 201952598 rs56768485 G A 425.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=40;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=1.816;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=exonic;Gene=NM_001319182;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNPEP:NM_001319182:exon1:c.G8A:p.C3Y;Gencode=Name\x3eENST00000367286.7,ENST00000295640.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56768485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.2205;1000g2015aug_all=0.346046;esp6500siv2_all=.;ExAC_ALL=0.3594;ExAC_AFR=0.4586;ExAC_AMR=0.2945;ExAC_EAS=0.2234;ExAC_FIN=0.3329;ExAC_NFE=0.2758;ExAC_OTH=0.3350;ExAC_SAS=0.4233;SIFT_score=0.029;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.79;FATHMM_pred=T;phyloP100way_vertebrate=-1.746;phyloP20way_mammalian=-2.497;SiPhy_29way_logOdds=7.455;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:454,0,556 1 201952755 rs4950807 T A 413.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.01;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.604;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367286.7,ENST00000295640.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5159;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.4115;1000g2015aug_amr=0.4496;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:442,0,284 1 201952938 rs7548375 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295640.8,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7853;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.8314;1000g2015aug_all=0.790735;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 201958312 rs35164608 C G 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.893;DP=32;ExcessHet=3.0103;FS=1.44;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.418;SOR=0.392;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295640.8,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35164608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.1412;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0793;1000g2015aug_all=0.0447284;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,14:32:99:476,0,608 1 201966774 rs10920300 T C 494.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.01;DP=48;ExcessHet=3.0103;FS=1.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.128;SOR=0.355;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=intronic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295640.8,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.0603;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.2896;1000g2015aug_all=0.141973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,18:48:99:523,0,904 1 201970562 rs4332408 T C 4505.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=exonic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V;Gencode=Name\x3eENST00000367286.7,ENST00000419190.1,ENST00000295640.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4332408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978634;esp6500siv2_all=0.9792;ExAC_ALL=0.9938;ExAC_AFR=0.9325;ExAC_AMR=0.9965;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9978;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:4534,438,0 1 201972889 rs4630172 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=ncRNA_intronic;Gene=NR_146472;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367286.7,ENST00000295640.8,ENST00000419190.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e325\x3bName\x3e"355654:MIR(SINE)";avsnp150=rs4630172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.205;1000g2015aug_amr=0.2406;1000g2015aug_all=0.326078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,109 1 201973565 rs3820439 G A 742.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.203;DP=63;ExcessHet=3.0103;FS=1.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.021;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=exonic;Gene=NM_001319182,NM_001319183,NM_001319184,NM_020216;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RNPEP:NM_001319183:exon9:c.G865A:p.V289I,RNPEP:NM_001319184:exon9:c.G865A:p.V289I,RNPEP:NM_001319182:exon10:c.G1342A:p.V448I,RNPEP:NM_020216:exon10:c.G1735A:p.V579I;Gencode=Name\x3eENST00000295640.8,ENST00000419190.1,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.2435;1000g2015aug_all=0.33107;esp6500siv2_all=0.2745;ExAC_ALL=0.3259;ExAC_AFR=0.2526;ExAC_AMR=0.3358;ExAC_EAS=0.3778;ExAC_FIN=0.3950;ExAC_NFE=0.2795;ExAC_OTH=0.3425;ExAC_SAS=0.4962;SIFT_score=0.392;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_pred=B;LRT_score=0.008;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.42;MutationAssessor_pred=L;FATHMM_score=0.94;FATHMM_pred=T;phyloP100way_vertebrate=1.213;phyloP20way_mammalian=-0.205;SiPhy_29way_logOdds=6.141;gerp++gt2=2.54;CADD=1.603;CADD_Phred=13.87;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,29:63:99:771,0,857 1 201974503 rs10737577 C T 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNPEP;Func=ncRNA_intronic;Gene=NR_146472;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419190.1,ENST00000295640.8,ENST00000367286.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10737577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 201980119 rs2819361 C G 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELF3;Func=intronic;Gene=NM_001114309,NM_004433;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359651.7,ENST00000367283.7,ENST00000367284.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9117;1000g2015aug_sas=0.7413;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.67;1000g2015aug_all=0.757788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 201981862 rs2819362 T C 1252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.505;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=-1.309;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELF3;Func=exonic;Gene=NM_001114309,NM_004433;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ELF3:NM_001114309:exon5:c.T573C:p.P191P,ELF3:NM_004433:exon5:c.T573C:p.P191P;Gencode=Name\x3eENST00000367283.7,ENST00000359651.7,ENST00000367284.9,ENST00000504773.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.6009;1000g2015aug_all=0.704273;esp6500siv2_all=0.6059;ExAC_ALL=0.6047;ExAC_AFR=0.7958;ExAC_AMR=0.6332;ExAC_EAS=0.7806;ExAC_FIN=0.5847;ExAC_NFE=0.5296;ExAC_OTH=0.6058;ExAC_SAS=0.6978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,41:64:99:1281,0,608 1 201983242 rs2819365 C T 729.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.104;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=1.077;SOR=0.984;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eELF3;Func=intronic;Gene=NM_001114309,NM_004433;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367284.9,ENST00000504773.1,ENST00000367283.7,ENST00000359651.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2819365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.3151;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.3184;1000g2015aug_all=0.182109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,24:43:99:758,0,597 1 201986418 rs12756809 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001114309,NM_004433;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.2565;1000g2015aug_all=0.356829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201986424 rs12756811 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001114309,NM_004433;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5367;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.2012;1000g2015aug_amr=0.2565;1000g2015aug_all=0.356829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 201997663 rs13375024 G C 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001114309,NM_004767;GeneDetail=dist\x3e11348\x3bdist\x3e94366;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13375024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.3646;1000g2015aug_all=0.375799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 202091849 rs3922998 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_004767;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e361\x3bName\x3e"356034:MIR3(SINE)";avsnp150=rs3922998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.7975;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.388;1000g2015aug_amr=0.5692;1000g2015aug_all=0.605831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202092046 rs3795593 C T 267.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR37L1;Func=UTR5;Gene=NM_004767;GeneDetail=NM_004767:c.-46C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367282.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.773;1000g2015aug_eur=0.8449;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.5634;1000g2015aug_all=0.599641;esp6500siv2_all=0.7191;ExAC_ALL=0.7399;ExAC_AFR=0.4483;ExAC_AMR=0.5107;ExAC_EAS=0.4780;ExAC_FIN=0.8781;ExAC_NFE=0.8336;ExAC_OTH=0.7768;ExAC_SAS=0.7755;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:296,27,0 1 202092360 rs3795595 G A 3670.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR37L1;Func=exonic;Gene=NM_004767;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=GPR37L1:NM_004767:exon1:c.G269A:p.G90D;Gencode=Name\x3eENST00000367282.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.83;1000g2015aug_all=0.850439;esp6500siv2_all=0.8658;ExAC_ALL=0.8861;ExAC_AFR=0.7940;ExAC_AMR=0.8303;ExAC_EAS=0.8242;ExAC_FIN=0.9472;ExAC_NFE=0.9033;ExAC_OTH=0.9056;ExAC_SAS=0.9200;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.059;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.995;MutationAssessor_pred=N;FATHMM_score=-1.25;FATHMM_pred=T;phyloP100way_vertebrate=-0.480;phyloP20way_mammalian=0.168;SiPhy_29way_logOdds=5.969;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,118:118:99:3699,354,0 1 202092415 rs3795596 A G 4396.77 PASS AC=2;AF=1;AN=2;DP=136;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR37L1;Func=exonic;Gene=NM_004767;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPR37L1:NM_004767:exon1:c.A324G:p.G108G;Gencode=Name\x3eENST00000367282.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.7814;1000g2015aug_amr=0.8285;1000g2015aug_all=0.851637;esp6500siv2_all=0.8678;ExAC_ALL=0.8870;ExAC_AFR=0.8008;ExAC_AMR=0.8315;ExAC_EAS=0.8274;ExAC_FIN=0.9470;ExAC_NFE=0.9033;ExAC_OTH=0.9051;ExAC_SAS=0.9204;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,135:135:99:4425,405,0 1 202092580 rs7516762 T C 5596.77 PASS AC=2;AF=1;AN=2;DP=170;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR37L1;Func=exonic;Gene=NM_004767;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GPR37L1:NM_004767:exon1:c.T489C:p.S163S;Gencode=Name\x3eENST00000367282.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7516762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.8228;1000g2015aug_all=0.83147;esp6500siv2_all=0.8495;ExAC_ALL=0.8819;ExAC_AFR=0.7423;ExAC_AMR=0.8287;ExAC_EAS=0.8298;ExAC_FIN=0.9474;ExAC_NFE=0.9033;ExAC_OTH=0.9051;ExAC_SAS=0.9204;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,170:170:99:5625,510,0 1 202096815 rs3820380 G A 1429.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=1.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR37L1;Func=intronic;Gene=NM_004767;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367282.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.177;1000g2015aug_amr=0.536;1000g2015aug_all=0.518171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1458,135,0 1 202103802 rs4342901 G A 1246.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=2.964;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARL8A;Func=intronic;Gene=NM_001256129,NM_138795;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272217.6,ENST00000614750.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1009\x3bName\x3e"356053:AluJr(SINE)";avsnp150=rs4342901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.3748;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.2939;1000g2015aug_all=0.246206;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1275,105,0 1 202106797 rs16849710 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARL8A;Func=intronic;Gene=NM_001256129,NM_138795;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272217.6,ENST00000614750.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e352\x3bName\x3e"356063:L1ME3F(LINE)";avsnp150=rs16849710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.413;1000g2015aug_amr=0.5072;1000g2015aug_all=0.446885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202113835 rs4989100 T G 1554.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=5.031;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARL8A;Func=UTR5;Gene=NM_001256129,NM_138795;GeneDetail=NM_001256129:c.-135A>C\x3bNM_138795:c.-135A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272217.6,ENST00000614750.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4989100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.7334;1000g2015aug_all=0.710463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1583,114,0 1 202119205 rs55813259 C A 507.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN7;Func=intronic;Gene=NM_001199797,NM_002832,NM_080588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309017.7,ENST00000367279.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2160\x3bName\x3e"356090:AluSx1(SINE)";avsnp150=rs55813259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0784;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.1324;1000g2015aug_amr=0.2752;1000g2015aug_all=0.230431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:536,39,0 1 202122613 rs10920338 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN7;Func=intronic;Gene=NM_001199797,NM_002832,NM_080588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309017.7,ENST00000367279.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.6342;1000g2015aug_afr=0.6422;1000g2015aug_amr=0.6441;1000g2015aug_all=0.647564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202122783 rs11590076 C A 913.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN7;Func=intronic;Gene=NM_001199797,NM_002832,NM_080588;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367279.8,ENST00000309017.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.2695;1000g2015aug_all=0.215256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:942,75,0 1 202130754 rs3934648 T C 495.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001199797,NM_002832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3934648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7748;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.8012;1000g2015aug_all=0.795527;esp6500siv2_all=.;ExAC_ALL=0.7871;ExAC_AFR=0.8551;ExAC_AMR=0.8158;ExAC_EAS=0.7647;ExAC_FIN=0.7414;ExAC_NFE=0.7787;ExAC_OTH=0.8333;ExAC_SAS=0.7622;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:524,45,0 1 202131712 rs68052262 T C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001199797,NM_002832;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs68052262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1012;1000g2015aug_sas=0.0675;1000g2015aug_eur=0.166;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.1369;1000g2015aug_all=0.161941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 202140240 . G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_intronic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 202143474 rs12410520 T C 31.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_intronic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12410520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.6441;1000g2015aug_all=0.609026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:60,0,37 1 202143512 rs12401678 A G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.645;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_intronic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12401678;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.236;1000g2015aug_amr=0.5086;1000g2015aug_all=0.434105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 202155543 rs2993432 A C 1754.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_exonic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs2993432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.8718;1000g2015aug_all=0.845248;esp6500siv2_all=.;ExAC_ALL=0.8963;ExAC_AFR=0.7596;ExAC_AMR=0.8723;ExAC_EAS=0.8939;ExAC_FIN=0.75;ExAC_NFE=0.8331;ExAC_OTH=0.9015;ExAC_SAS=0.9374;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1783,168,0 1 202156482 rs3010088 G A 1020.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.03;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_exonic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs3010088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.83;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.8069;1000g2015aug_all=0.682508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1049,90,0 1 202156628 rs3010089 A C 1287.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPRVP;Func=ncRNA_exonic;Gene=NR_002930;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs3010089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.8689;1000g2015aug_all=0.841853;esp6500siv2_all=.;ExAC_ALL=0.8954;ExAC_AFR=0.7474;ExAC_AMR=0.8670;ExAC_EAS=0.895;ExAC_FIN=0.875;ExAC_NFE=0.8320;ExAC_OTH=0.9015;ExAC_SAS=0.9374;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1316,114,0 1 202163063 rs2361431 T C 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001017403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs2361431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.9274;1000g2015aug_eur=0.831;1000g2015aug_afr=0.2897;1000g2015aug_amr=0.8055;1000g2015aug_all=0.680911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 202163364 rs2077598 C G 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs2077598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6677;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.7654;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.6412;1000g2015aug_all=0.621206;esp6500siv2_all=0.6634;ExAC_ALL=0.7486;ExAC_AFR=0.3843;ExAC_AMR=0.6388;ExAC_EAS=0.6814;ExAC_FIN=0.7307;ExAC_NFE=0.7882;ExAC_OTH=0.7818;ExAC_SAS=0.8998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 202163516 rs1812761 C A 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs1812761;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7183;1000g2015aug_sas=0.908;1000g2015aug_eur=0.831;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.8112;1000g2015aug_all=0.672923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 202163621 rs3120747 G A 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.602;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.47;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.948643\x3bName\x3echr9:92127445;Repeat=.;avsnp150=rs3120747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.202;1000g2015aug_amr=0.3156;1000g2015aug_all=0.285343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:214,0,176 1 202172769 rs12122827 T G 100.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.654;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122827;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.028;1000g2015aug_amr=0.2478;1000g2015aug_all=0.227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:129,0,286 1 202194441 rs3010067 G C 1190.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.52;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403,NM_001017404,NM_021636;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367278.7,ENST00000255432.11,ENST00000439764.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3010067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.6503;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.4582;1000g2015aug_all=0.467652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1219,90,0 1 202196931 rs1452070 G A 519.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGR6;Func=intronic;Gene=NM_001017403,NM_001017404,NM_021636;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255432.11,ENST00000367278.7,ENST00000439764.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e656\x3bName\x3e"356232:MIRb(SINE)";avsnp150=rs1452070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.7248;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:548,42,0 1 202303815 rs788788 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2T;Func=intronic;Gene=NM_001310326,NM_014176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367274.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1370\x3bName\x3e"356430:L1MB3(LINE)";avsnp150=rs788788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.1167;1000g2015aug_all=0.158946;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 202304868 rs14451 T C 3010.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=0.999;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUBE2T;Func=exonic;Gene=NM_014176;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=UBE2T:NM_014176:exon2:c.A15G:p.S5S;Gencode=Name\x3eENST00000367274.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs14451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.495;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.3573;1000g2015aug_all=0.390575;esp6500siv2_all=0.4882;ExAC_ALL=0.4584;ExAC_AFR=0.4423;ExAC_AMR=0.2796;ExAC_EAS=0.3121;ExAC_FIN=0.5371;ExAC_NFE=0.5205;ExAC_OTH=0.4978;ExAC_SAS=0.3855;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:3039,285,0 1 202386075 rs2843413 T C 1394.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=1.666;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP1R12B;Func=intronic;Gene=NM_001167857,NM_001167858,NM_001331029,NM_002481;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608999.5,ENST00000356764.6,ENST00000480184.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.971305\x3bName\x3echrY:26332459;Repeat=.;avsnp150=rs2843413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8926;1000g2015aug_amr=0.9899;1000g2015aug_all=0.969449;esp6500siv2_all=0.9676;ExAC_ALL=0.9897;ExAC_AFR=0.9143;ExAC_AMR=0.9937;ExAC_EAS=1;ExAC_FIN=0.9983;ExAC_NFE=0.9964;ExAC_OTH=0.9989;ExAC_SAS=0.9984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1423,123,0 1 202565948 rs504261 G A 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.802;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-1.513;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT2;Func=exonic;Gene=NM_001136504,NM_177402;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYT2:NM_001136504:exon9:c.C1197T:p.I399I,SYT2:NM_177402:exon9:c.C1197T:p.I399I;Gencode=Name\x3eENST00000367267.5,ENST00000367268.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs504261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.32;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.3033;1000g2015aug_amr=0.2594;1000g2015aug_all=0.307907;esp6500siv2_all=0.3613;ExAC_ALL=0.3477;ExAC_AFR=0.3176;ExAC_AMR=0.2182;ExAC_EAS=0.3132;ExAC_FIN=0.3888;ExAC_NFE=0.3819;ExAC_OTH=0.3540;ExAC_SAS=0.3205;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,17:42:99:430,0,748 1 202568735 rs907697 T C 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT2;Func=intronic;Gene=NM_001136504,NM_177402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367268.4,ENST00000367267.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e328\x3bName\x3e"356970:MER117(DNA)";avsnp150=rs907697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.454;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.4597;1000g2015aug_all=0.365016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 202574784 rs1968583 G A 1164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.302;DP=92;ExcessHet=3.0103;FS=0.807;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.215;SOR=0.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT2;Func=exonic;Gene=NM_001136504,NM_177402;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SYT2:NM_001136504:exon2:c.C117T:p.S39S,SYT2:NM_177402:exon2:c.C117T:p.S39S;Gencode=Name\x3eENST00000367267.5,ENST00000367268.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.95524\x3bName\x3echr15:32343874;Repeat=.;avsnp150=rs1968583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.4397;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.4597;1000g2015aug_all=0.358826;esp6500siv2_all=0.4030;ExAC_ALL=0.4699;ExAC_AFR=0.1429;ExAC_AMR=0.4794;ExAC_EAS=0.3438;ExAC_FIN=0.5183;ExAC_NFE=0.5334;ExAC_OTH=0.4978;ExAC_SAS=0.4574;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,45:92:99:1193,0,1279 1 202605569 rs566782 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT2;Func=intronic;Gene=NM_001136504,NM_177402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367268.4,ENST00000367267.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.95524\x3bName\x3echr15:32343874;Repeat=Score\x3e278\x3bName\x3e"357042:MIRc(SINE)";avsnp150=rs566782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202619045 rs12042789 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT2;Func=intronic;Gene=NM_177402;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367268.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e184\x3bName\x3e"357073:MIR3(SINE)";avsnp150=rs12042789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.1268;1000g2015aug_all=0.185104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202702353 rs4950791 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.831;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.8631;1000g2015aug_all=0.712061;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 202703053 rs4310498 G A 1622.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=1.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4310498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.831;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.8631;1000g2015aug_all=0.710663;esp6500siv2_all=0.7363;ExAC_ALL=0.8126;ExAC_AFR=0.4863;ExAC_AMR=0.8822;ExAC_EAS=0.8095;ExAC_FIN=0.8492;ExAC_NFE=0.8549;ExAC_OTH=0.8213;ExAC_SAS=0.7496;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1651,153,0 1 202704860 rs4325196 G A 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4325196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.831;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.8689;1000g2015aug_all=0.73762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 202705455 rs1141109 G C 1902.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=exonic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KDM5B:NM_001347591:exon20:c.C3015G:p.P1005P,KDM5B:NM_006618:exon21:c.C3150G:p.P1050P,KDM5B:NM_001314042:exon22:c.C3258G:p.P1086P;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1141109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.323;1000g2015aug_amr=0.8343;1000g2015aug_all=0.639577;esp6500siv2_all=0.6416;ExAC_ALL=0.7394;ExAC_AFR=0.3645;ExAC_AMR=0.8558;ExAC_EAS=0.7737;ExAC_FIN=0.8102;ExAC_NFE=0.7784;ExAC_OTH=0.7770;ExAC_SAS=0.6878;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:1931,195,0 1 202711350 rs6658451 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9425;1000g2015aug_amr=0.9957;1000g2015aug_all=0.984026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 202715284 rs1141108 G A 1790.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=exonic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KDM5B:NM_001347591:exon14:c.C2049T:p.Y683Y,KDM5B:NM_006618:exon15:c.C2184T:p.Y728Y,KDM5B:NM_001314042:exon16:c.C2292T:p.Y764Y;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1141108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.8343;1000g2015aug_all=0.639177;esp6500siv2_all=0.6416;ExAC_ALL=0.7400;ExAC_AFR=0.3646;ExAC_AMR=0.8561;ExAC_EAS=0.7735;ExAC_FIN=0.8100;ExAC_NFE=0.7789;ExAC_OTH=0.7765;ExAC_SAS=0.6903;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1819,162,0 1 202718028 rs1892163 A G 732.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.236;1000g2015aug_amr=0.6715;1000g2015aug_all=0.520367;esp6500siv2_all=0.5988;ExAC_ALL=0.6700;ExAC_AFR=0.3000;ExAC_AMR=0.6376;ExAC_EAS=0.5322;ExAC_FIN=0.7882;ExAC_NFE=0.7468;ExAC_OTH=0.7329;ExAC_SAS=0.6259;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:761,57,0 1 202718202 rs1892164 G A 2179.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=exonic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KDM5B:NM_001347591:exon13:c.C1752T:p.H584H,KDM5B:NM_006618:exon14:c.C1887T:p.H629H,KDM5B:NM_001314042:exon15:c.C1995T:p.H665H;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1892164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.6715;1000g2015aug_all=0.520168;esp6500siv2_all=0.5984;ExAC_ALL=0.6691;ExAC_AFR=0.2987;ExAC_AMR=0.6368;ExAC_EAS=0.5314;ExAC_FIN=0.7878;ExAC_NFE=0.7472;ExAC_OTH=0.7318;ExAC_SAS=0.6305;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2208,210,0 1 202721848 rs12133311 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.323;1000g2015aug_amr=0.8343;1000g2015aug_all=0.639377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 202722277 rs4950742 G A 387.78 PASS AC=2;AF=1;AN=2;BaseQRankSum=2.288;DP=12;ExcessHet=3.0103;FS=7.782;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.31;ReadPosRankSum=1.593;SOR=3.418;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.6715;1000g2015aug_all=0.520168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,11:12:26:416,26,0 1 202722348 rs4950793 A G 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2188\x3bName\x3e"357244:AluSq2(SINE)";avsnp150=rs4950793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.831;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.8689;1000g2015aug_all=0.742212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 202725286 rs3820153 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e190\x3bName\x3e"357250:MIR3(SINE)";avsnp150=rs3820153;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.3238;1000g2015aug_amr=0.8343;1000g2015aug_all=0.639577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 202725318 rs536051588 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e190\x3bName\x3e"357250:MIR3(SINE)";avsnp150=rs536051588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 202728396 rs12142312 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2090\x3bName\x3e"357255:AluJb(SINE)";avsnp150=rs12142312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.6715;1000g2015aug_all=0.520168;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 202729906 rs7367771 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7367771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5208;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.6715;1000g2015aug_all=0.520367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202729932 rs10732290 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10732290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.831;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.8689;1000g2015aug_all=0.73742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 202733238 rs3196669 C T 1354.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=exonic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KDM5B:NM_001347591:exon5:c.G612A:p.T204T,KDM5B:NM_006618:exon6:c.G747A:p.T249T,KDM5B:NM_001314042:exon7:c.G855A:p.T285T;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3196669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.323;1000g2015aug_amr=0.8343;1000g2015aug_all=0.635383;esp6500siv2_all=0.6421;ExAC_ALL=0.7371;ExAC_AFR=0.3644;ExAC_AMR=0.8533;ExAC_EAS=0.7551;ExAC_FIN=0.8088;ExAC_NFE=0.7781;ExAC_OTH=0.7742;ExAC_SAS=0.6840;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1383,132,0 1 202735751 rs12140729 T C 2532.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.6715;1000g2015aug_all=0.516773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2561,258,0 1 202743634 rs12410981 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367265.7,ENST00000367264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1723\x3bName\x3e"357280:AluJr(SINE)";avsnp150=rs12410981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.2147;1000g2015aug_all=0.148962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 202743892 rs17497253 T C 146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17497253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1974;1000g2015aug_all=0.172125;esp6500siv2_all=0.2079;ExAC_ALL=0.2471;ExAC_AFR=0.0547;ExAC_AMR=0.1815;ExAC_EAS=0.1604;ExAC_FIN=0.3269;ExAC_NFE=0.2878;ExAC_OTH=0.2584;ExAC_SAS=0.2607;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:99:175,0,99 1 202765242 rs6427966 G A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7178;1000g2015aug_eur=0.832;1000g2015aug_afr=0.4841;1000g2015aug_amr=0.8674;1000g2015aug_all=0.71905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 202765279 rs6427967 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.06;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKDM5B;Func=intronic;Gene=NM_001314042,NM_001347591,NM_006618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367264.6,ENST00000367265.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6427967;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.8042;1000g2015aug_afr=0.3964;1000g2015aug_amr=0.7046;1000g2015aug_all=0.60024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 202794787 rs12139944 T C 1033.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.553;DP=65;ExcessHet=3.0103;FS=2.146;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.385;SOR=0.462;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMGAT4EP;Func=ncRNA_exonic;Gene=NR_038135;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.18;1000g2015aug_eur=0.2515;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.2277;1000g2015aug_all=0.179513;esp6500siv2_all=.;ExAC_ALL=0.2350;ExAC_AFR=0.0881;ExAC_AMR=0.2553;ExAC_EAS=0.2222;ExAC_FIN=0.2546;ExAC_NFE=0.2908;ExAC_OTH=0.2903;ExAC_SAS=0.2097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,41:64:99:1062,0,589 1 202827088 rs6687143 A G 486.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.18;QD=25.63;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038135,NR_002929;GeneDetail=dist\x3e30747\x3bdist\x3e3794;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1120\x3bName\x3e"357492:AluSp(SINE)";avsnp150=rs6687143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.817;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.8343;1000g2015aug_all=0.805312;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:515,39,0 1 202827191 rs6663182 G A 417.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.434;DP=33;ExcessHet=3.0103;FS=1.453;MLEAC=1;MLEAF=0.5;MQ=59.29;MQRankSum=0.95;QD=12.66;ReadPosRankSum=-2.169;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038135,NR_002929;GeneDetail=dist\x3e30850\x3bdist\x3e3691;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1120\x3bName\x3e"357492:AluSp(SINE)";avsnp150=rs6663182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.2958;1000g2015aug_amr=0.2695;1000g2015aug_all=0.286142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:446,0,418 1 202827398 rs6687459 A G 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.244;DP=41;ExcessHet=3.0103;FS=1.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.928;SOR=0.336;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038135,NR_002929;GeneDetail=dist\x3e31057\x3bdist\x3e3484;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"357493:(A)n(Simple_repeat)";avsnp150=rs6687459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.2965;1000g2015aug_amr=0.2695;1000g2015aug_all=0.286342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,16:39:99:408,0,661 1 202842935 rs3795590 C T 65.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=13;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=-0.002;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC148709;Func=ncRNA_exonic;Gene=NR_002929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456105.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2956;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.3169;1000g2015aug_amr=0.3963;1000g2015aug_all=0.338858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,4:13:94:94,0,269 1 202843127 rs11590469 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC148709;Func=ncRNA_exonic;Gene=NR_002929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456105.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.4254;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.5779;1000g2015aug_amr=0.4265;1000g2015aug_all=0.462859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 202861566 rs1042990 A G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.703;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=UTR3;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=NM_001303051:c.*95T>C\x3bNM_001303109:c.*95T>C\x3bNM_021633:c.*95T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367259.1,ENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.961806\x3bName\x3echr22:20451509;Repeat=.;avsnp150=rs1042990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3155;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.5259;1000g2015aug_all=0.45008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 202878454 rs1539357 T A 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.345;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.135;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1539357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.5259;1000g2015aug_all=0.45028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:139,0,101 1 202878492 rs3820152 T A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.5259;1000g2015aug_all=0.448682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 202881302 rs6692075 C T 74.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.501;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.242;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.939071\x3bName\x3echr19:11665741;Repeat=.;avsnp150=rs6692075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3155;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.5259;1000g2015aug_all=0.447883;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:103,0,221 1 202881609 rs10753927 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=12;ExcessHet=3.0103;FS=2.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0;SOR=1.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.939071\x3bName\x3echr19:11665741;Repeat=Score\x3e13\x3bName\x3e"357620:(GTG)n(Simple_repeat)";avsnp150=rs10753927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.8746;1000g2015aug_all=0.8127;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:188,0,139 1 202887295 rs2275734 G A 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.795;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-2.15;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.3949;1000g2015aug_amr=0.5058;1000g2015aug_all=0.438299;esp6500siv2_all=0.5451;ExAC_ALL=0.5435;ExAC_AFR=0.4016;ExAC_AMR=0.5129;ExAC_EAS=0.3246;ExAC_FIN=0.6538;ExAC_NFE=0.6167;ExAC_OTH=0.5854;ExAC_SAS=0.4249;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:195,0,333 1 202889207 rs7520522 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2292\x3bName\x3e"357634:AluSx(SINE)";avsnp150=rs7520522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.9841;1000g2015aug_all=0.940895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 202893919 rs6667300 C T 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=-0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHL12;Func=intronic;Gene=NM_001303051,NM_001303109,NM_021633;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367261.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e385\x3bName\x3e"357648:MIR(SINE)";avsnp150=rs6667300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.8732;1000g2015aug_all=0.816094;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 202914356 rs1342387 T C 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.819;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADIPOR1;Func=intronic;Gene=NM_001290553,NM_001290557,NM_001290629,NM_015999;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367254.7,ENST00000340990.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1342387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.4798;1000g2015aug_all=0.535942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:177,0,165 1 202920300 rs2275737 A C 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.557;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADIPOR1;Func=intronic;Gene=NM_001290553,NM_001290557,NM_001290629,NM_015999;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340990.9,ENST00000367254.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8274;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.5598;1000g2015aug_amr=0.67;1000g2015aug_all=0.636182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:273,0,484 1 202920304 rs2275738 T C 244.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.83;ReadPosRankSum=0.137;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADIPOR1;Func=intronic;Gene=NM_001290553,NM_001290557,NM_001290629,NM_015999;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340990.9,ENST00000367254.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8274;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.5507;1000g2015aug_afr=0.5825;1000g2015aug_amr=0.6729;1000g2015aug_all=0.642572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:273,0,484 1 202927501 rs7529354 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADIPOR1;Func=UTR5;Gene=NM_001290557,NM_015999;GeneDetail=NM_001290557:c.-7303A>G\x3bNM_015999:c.-7303A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340990.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7529354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9058;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8094;1000g2015aug_amr=0.8689;1000g2015aug_all=0.854233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 202927507 rs7517286 C T 52.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADIPOR1;Func=UTR5;Gene=NM_001290557,NM_015999;GeneDetail=NM_001290557:c.-7309G>A\x3bNM_015999:c.-7309G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340990.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.5121;1000g2015aug_amr=0.4251;1000g2015aug_all=0.468251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:26:81,0,26 1 202931839 rs2232854 G A 1258.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.456;DP=86;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.518;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.3963;1000g2015aug_all=0.313698;esp6500siv2_all=0.3055;ExAC_ALL=0.3279;ExAC_AFR=0.2133;ExAC_AMR=0.3667;ExAC_EAS=0.4044;ExAC_FIN=0.3308;ExAC_NFE=0.3474;ExAC_OTH=0.3419;ExAC_SAS=0.2533;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,43:86:99:1287,0,1379 1 202931958 rs2232853 G A 462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.889;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.899;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.1787;1000g2015aug_all=0.137181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:491,0,462 1 202931998 rs2232852 C A 292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=33;ExcessHet=3.0103;FS=3.567;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.017;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.4265;1000g2015aug_all=0.472444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,10:32:99:321,0,822 1 202933657 rs2232847 T A 381.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.045;SOR=0.498;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.331;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.2017;1000g2015aug_all=0.219848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:410,0,625 1 202933992 rs1418445 G C 348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.258;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.236;SOR=0.472;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.625;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.5136;1000g2015aug_amr=0.4251;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:377,0,636 1 202934765 . C * 652.77 PASS AC=1;AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.61;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1068\x3bName\x3e"357721:AluSq(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,8:14:99:681,207,148 1 202934765 rs12125832 C T 652.77 PASS AC=1;AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.61;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCYB5R1;Func=intronic;Gene=NM_016243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367249.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1068\x3bName\x3e"357721:AluSq(SINE)";avsnp150=rs12125832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.8516;1000g2015aug_all=0.822484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,6:14:99:681,259,220 1 202956340 rs705754 T G 1802.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.178;DP=105;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.012;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100506747;Func=ncRNA_exonic;Gene=NR_036557;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs705754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.329;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.1844;1000g2015aug_all=0.210064;esp6500siv2_all=.;ExAC_ALL=0.2993;ExAC_AFR=0.2448;ExAC_AMR=0.1848;ExAC_EAS=0.0682;ExAC_FIN=.;ExAC_NFE=0.3833;ExAC_OTH=0.2458;ExAC_SAS=0.2764;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,66:105:99:1831,0,924 1 202978032 rs1418444 C G 312.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.74;DP=33;ExcessHet=3.0103;FS=3.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.899;SOR=1.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM183A;Func=intronic;Gene=NM_001322955,NM_001322956,NM_001322957,NM_001322958,NM_001322959,NM_001349859,NM_001349862,NM_138391;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367242.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.4942;1000g2015aug_all=0.459864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,12:33:99:341,0,574 1 202991745 rs12727457 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM183A;Func=intronic;Gene=NM_001322955,NM_001322956,NM_001322957,NM_001322958,NM_001322959,NM_001349859,NM_001349862,NM_138391;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367242.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2373\x3bName\x3e"357852:AluSz6(SINE)";avsnp150=rs12727457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.3507;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.281;1000g2015aug_all=0.315695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 203003870 rs782800 G A 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.256;DP=61;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.14;SOR=0.89;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs782800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.5511;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.3472;1000g2015aug_amr=0.4726;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=0.5831;ExAC_AFR=0.462;ExAC_AMR=0.5581;ExAC_EAS=0.5158;ExAC_FIN=0.6667;ExAC_NFE=0.6226;ExAC_OTH=0.5379;ExAC_SAS=0.5757;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,31:61:99:837,0,798 1 203006243 rs782805 A G 708.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs782805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9891;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.5832;1000g2015aug_amr=0.9683;1000g2015aug_all=0.882987;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:737,66,0 1 203008174 rs61821060 G C 7327.77 PASS AC=2;AF=1;AN=2;DP=228;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=exonic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PPFIA4:NM_001304331:exon2:c.G38C:p.R13P,PPFIA4:NM_001304332:exon2:c.G38C:p.R13P;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61821060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=0.387;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-0.76;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;phyloP100way_vertebrate=3.748;phyloP20way_mammalian=0.060;SiPhy_29way_logOdds=16.228;gerp++gt2=5.32;CADD=2.438;CADD_Phred=19.06;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,226:226:99:7356,678,0 1 203008286 rs10920553 C G 5073.77 PASS AC=2;AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.186;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=exonic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PPFIA4:NM_001304331:exon2:c.C150G:p.T50T,PPFIA4:NM_001304332:exon2:c.C150G:p.T50T;Gencode=Name\x3eENST00000447715.6,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5863;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.5115;1000g2015aug_all=0.503994;esp6500siv2_all=0.5176;ExAC_ALL=0.5829;ExAC_AFR=0.3784;ExAC_AMR=0.5136;ExAC_EAS=0.5936;ExAC_FIN=0.6585;ExAC_NFE=0.6134;ExAC_OTH=0.6051;ExAC_SAS=0.5701;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,146:146:99:5102,439,0 1 203012705 rs7547566 C G 6063.77 PASS AC=2;AF=1;AN=2;DP=201;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=1.373;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000295706.8,ENST00000367240.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7547566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3274;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.3429;1000g2015aug_all=0.360024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,199:199:99:6092,593,0 1 203012906 rs4950908 G A 685.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.66;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367240.6,ENST00000295706.8,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e257\x3bName\x3e"357880:MamRep38(DNA)";avsnp150=rs4950908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.696;1000g2015aug_all=0.672724;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:714,54,0 1 203014196 rs4472812 T C 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4472812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.453;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.3588;1000g2015aug_all=0.374002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 203017087 rs754894 C T 137.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs754894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.6421;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.593;1000g2015aug_amr=0.5807;1000g2015aug_all=0.638179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:165,12,0 1 203023122 rs2291691 A C 1718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.382;DP=120;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.394;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000272198.10,ENST00000367240.6,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"357896:G-rich(Low_complexity)";avsnp150=rs2291691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.1772;1000g2015aug_all=0.220248;esp6500siv2_all=0.2297;ExAC_ALL=0.2923;ExAC_AFR=0.3325;ExAC_AMR=0.2830;ExAC_EAS=0.1521;ExAC_FIN=0.4148;ExAC_NFE=0.3022;ExAC_OTH=0.2549;ExAC_SAS=0.2761;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,60:120:99:1747,0,1622 1 203024421 rs12742983 A T 420.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=31;ExcessHet=3.0103;FS=3.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.282;SOR=0.111;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000272198.10,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12742983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1628;1000g2015aug_all=0.144768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:449,0,659 1 203024767 rs3736314 C T 1237.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.141;DP=69;ExcessHet=3.0103;FS=2.46;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.324;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=exonic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PPFIA4:NM_001304331:exon16:c.C2037T:p.A679A,PPFIA4:NM_001304332:exon16:c.C2037T:p.A679A;Gencode=Name\x3eENST00000295706.8,ENST00000272198.10,ENST00000367240.6,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.1207;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.2216;1000g2015aug_amr=0.1138;1000g2015aug_all=0.154553;esp6500siv2_all=0.1794;ExAC_ALL=0.1522;ExAC_AFR=0.2349;ExAC_AMR=0.0678;ExAC_EAS=0.1243;ExAC_FIN=0.2025;ExAC_NFE=0.1636;ExAC_OTH=0.1763;ExAC_SAS=0.1095;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,41:69:99:1266,0,785 1 203025209 rs11590950 G C 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.964;DP=90;ExcessHet=3.0103;FS=0.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=0.185;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272198.10,ENST00000367240.6,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11590950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.174;1000g2015aug_amr=0.1643;1000g2015aug_all=0.18151;esp6500siv2_all=0.1907;ExAC_ALL=0.2098;ExAC_AFR=0.1736;ExAC_AMR=0.1865;ExAC_EAS=0.0920;ExAC_FIN=0.2597;ExAC_NFE=0.2153;ExAC_OTH=0.2374;ExAC_SAS=0.2657;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,30:88:99:691,0,1584 1 203025428 rs12097602 G A 963.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.769;DP=65;ExcessHet=3.0103;FS=6.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=1.271;SOR=0.504;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000272198.10,ENST00000367240.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.128;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.111;1000g2015aug_all=0.147364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,30:65:99:992,0,1163 1 203025583 rs61748818 G A 1548.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.481;DP=132;ExcessHet=3.0103;FS=0.642;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=1.182;SOR=0.762;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=exonic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PPFIA4:NM_001304331:exon18:c.G2187A:p.T729T,PPFIA4:NM_001304332:exon18:c.G2187A:p.T729T;Gencode=Name\x3eENST00000272198.10,ENST00000367240.6,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61748818;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.1002;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0569089;esp6500siv2_all=0.0378;ExAC_ALL=0.0557;ExAC_AFR=0.0107;ExAC_AMR=0.0199;ExAC_EAS=0.0916;ExAC_FIN=0.0676;ExAC_NFE=0.0558;ExAC_OTH=0.0730;ExAC_SAS=0.0820;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,65:132:99:1577,0,1791 1 203026203 rs903362 T G 1774.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=5.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000367240.6,ENST00000272198.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"357904:L3(LINE)";avsnp150=rs903362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.998802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1803,132,0 1 203026214 rs10753933 T G 1331.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272198.10,ENST00000367240.6,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e479\x3bName\x3e"357904:L3(LINE)";avsnp150=rs10753933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.3948;1000g2015aug_all=0.423922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1360,102,0 1 203028607 rs12353975 G T 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.471;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.335;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000367240.6,ENST00000272198.10,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12353975;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.111;1000g2015aug_all=0.154153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,4:12:99:127,0,240 1 203028711 rs4590732 C G 1311.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=4.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000272198.10,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4590732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.5368;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.4049;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1340,99,0 1 203029017 rs2270546 A C 679.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.689;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.555;SOR=0.701;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000272198.10,ENST00000367240.6,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.331;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.2305;1000g2015aug_all=0.279952;esp6500siv2_all=0.3053;ExAC_ALL=0.3393;ExAC_AFR=0.2647;ExAC_AMR=0.2663;ExAC_EAS=0.3187;ExAC_FIN=0.4254;ExAC_NFE=0.3627;ExAC_OTH=0.3377;ExAC_SAS=0.3064;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,23:50:99:708,0,749 1 203030071 rs2270545 C T 480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.415;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.292;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000272198.10,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.1124;1000g2015aug_all=0.155351;esp6500siv2_all=0.1814;ExAC_ALL=0.1523;ExAC_AFR=0.2270;ExAC_AMR=0.0679;ExAC_EAS=0.1200;ExAC_FIN=0.2035;ExAC_NFE=0.1654;ExAC_OTH=0.1767;ExAC_SAS=0.1094;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:509,0,672 1 203030685 rs2270543 T C 989.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367240.6,ENST00000272198.10,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.4841;1000g2015aug_all=0.492812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1018,78,0 1 203032922 rs1416262 C T 1410.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000367240.6,ENST00000272198.10,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1416262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.2451;1000g2015aug_amr=0.2752;1000g2015aug_all=0.289736;esp6500siv2_all=0.3423;ExAC_ALL=0.3503;ExAC_AFR=0.2764;ExAC_AMR=0.2547;ExAC_EAS=0.2018;ExAC_FIN=0.4537;ExAC_NFE=0.3803;ExAC_OTH=0.4082;ExAC_SAS=0.3718;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1439,138,0 1 203036614 rs1389792 G A 656.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=4.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367240.6,ENST00000272198.10,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1389792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.2752;1000g2015aug_all=0.286542;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:685,51,0 1 203036757 rs2275354 T C 3817.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=1.63;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000367240.6,ENST00000272198.10,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.4856;1000g2015aug_all=0.485623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,113:113:99:3846,339,0 1 203037197 rs6676973 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000367240.6,ENST00000272198.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6676973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.407;1000g2015aug_amr=0.3127;1000g2015aug_all=0.36861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203040673 rs9803710 A G 639.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000272198.10,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9803710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:668,48,0 1 203040740 rs11583155 T C 1665.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.95;SOR=4.664;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000272198.10,ENST00000367240.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11583155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.593;1000g2015aug_amr=0.5274;1000g2015aug_all=0.567891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1694,129,0 1 203040816 rs2270540 G C 3826.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.207;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272198.10,ENST00000367240.6,ENST00000295706.8,ENST00000447715.6,ENST00000599966.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.525;1000g2015aug_amr=0.5216;1000g2015aug_all=0.549121;esp6500siv2_all=0.6037;ExAC_ALL=0.6180;ExAC_AFR=0.5727;ExAC_AMR=0.5743;ExAC_EAS=0.4565;ExAC_FIN=0.7177;ExAC_NFE=0.6318;ExAC_OTH=0.6325;ExAC_SAS=0.6595;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:3855,366,0 1 203040922 rs2270541 G T 1545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.119;DP=137;ExcessHet=3.0103;FS=1.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.802;SOR=0.529;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000272198.10,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3135;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.333;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.2406;1000g2015aug_all=0.342851;esp6500siv2_all=0.3642;ExAC_ALL=0.3495;ExAC_AFR=0.4655;ExAC_AMR=0.2515;ExAC_EAS=0.3088;ExAC_FIN=0.4225;ExAC_NFE=0.3542;ExAC_OTH=0.3432;ExAC_SAS=0.3107;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,62:137:99:1574,0,2023 1 203041133 rs2270542 G A 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000447715.6,ENST00000599966.5,ENST00000272198.10,ENST00000367240.6,ENST00000295706.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.1053;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:147,0,65 1 203045042 rs903365 T C 468.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.33;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000367240.6,ENST00000272198.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4653;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.5432;1000g2015aug_all=0.583666;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:497,36,0 1 203045054 rs11585814 C T 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.611;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000272198.10,ENST00000367240.6,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.1124;1000g2015aug_all=0.152756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,186 1 203045188 rs903366 A T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=10;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.036;SOR=2.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000272198.10,ENST00000367240.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.3343;1000g2015aug_all=0.342252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 203045413 rs11578206 G T 511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.819;DP=52;ExcessHet=3.0103;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.312;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=intronic;Gene=NM_001304331,NM_001304332;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295706.8,ENST00000367240.6,ENST00000272198.10,ENST00000599966.5,ENST00000447715.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.3593;1000g2015aug_amr=0.3343;1000g2015aug_all=0.341454;esp6500siv2_all=0.3605;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:540,0,775 1 203045583 rs6682652 T C 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.078;DP=34;ExcessHet=3.0103;FS=1.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.92;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPFIA4;Func=UTR3;Gene=NM_001304331,NM_001304332;GeneDetail=NM_001304331:c.*65T>C\x3bNM_001304332:c.*65T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000599966.5,ENST00000447715.6,ENST00000295706.8,ENST00000272198.10,ENST00000367240.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.3386;1000g2015aug_all=0.367212;esp6500siv2_all=0.3859;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:376,0,497 1 203053768 rs903356 T C 3778.77 PASS AC=2;AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOG;Func=intronic;Gene=NM_002479;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241651.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs903356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9827;1000g2015aug_all=0.95607;esp6500siv2_all=0.9731;ExAC_ALL=0.9644;ExAC_AFR=0.9932;ExAC_AMR=0.9845;ExAC_EAS=0.9031;ExAC_FIN=0.9711;ExAC_NFE=0.9665;ExAC_OTH=0.9622;ExAC_SAS=0.9531;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,114:114:99:3807,342,0 1 203054523 rs923950 A T 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYOG;Func=intronic;Gene=NM_002479;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000241651.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs923950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.88;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9755;1000g2015aug_all=0.954073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 203098275 rs2228079 T G 4254.77 PASS AC=2;AF=1;AN=2;DP=135;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=0.867;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA1;Func=exonic;Gene=NM_000674,NM_001048230;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ADORA1:NM_001048230:exon2:c.T306G:p.A102A,ADORA1:NM_000674:exon3:c.T306G:p.A102A;Gencode=Name\x3eENST00000337894.8,ENST00000367235.1,ENST00000309502.7,ENST00000367236.8,ENST00000618295.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.338;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.2565;1000g2015aug_all=0.233626;esp6500siv2_all=0.2635;ExAC_ALL=0.3068;ExAC_AFR=0.1226;ExAC_AMR=0.3037;ExAC_EAS=0.1520;ExAC_FIN=0.3288;ExAC_NFE=0.3292;ExAC_OTH=0.3;ExAC_SAS=0.4102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,135:135:99:4283,405,0 1 203098455 rs10920569 T C 863.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=2.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA1;Func=intronic;Gene=NM_000674,NM_001048230;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000337894.8,ENST00000367235.1,ENST00000367236.8,ENST00000618295.1,ENST00000309502.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.338;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.2536;1000g2015aug_all=0.229233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:892,72,0 1 203123696 rs6688884 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA1;Func=intronic;Gene=NM_000674,NM_001048230;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000309502.7,ENST00000618295.1,ENST00000367236.8,ENST00000337894.8,ENST00000367235.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1399\x3bName\x3e"358089:LTR33A_(LTR)";avsnp150=rs6688884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.546;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.6888;1000g2015aug_all=0.579872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203134241 rs41264023 G A 1621.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.162;DP=106;ExcessHet=3.0103;FS=11.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.023;SOR=1.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADORA1;Func=intronic;Gene=NM_000674,NM_001048230;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367235.1,ENST00000337894.8,ENST00000367236.8,ENST00000618295.1,ENST00000309502.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0089;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=0.0054;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0257;ExAC_NFE=0.0088;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,60:105:99:1650,0,1171 1 203141424 rs2791718 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPH;Func=intronic;Gene=NM_004997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255416.8,ENST00000621380.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1121;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1213;1000g2015aug_afr=0.3933;1000g2015aug_amr=0.2291;1000g2015aug_all=0.203874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203143725 rs2642531 G C 1567.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPH;Func=exonic;Gene=NM_004997;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MYBPH:NM_004997:exon3:c.C341G:p.A114G;Gencode=Name\x3eENST00000621380.1,ENST00000255416.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2642531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.1166;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.528;1000g2015aug_amr=0.2522;1000g2015aug_all=0.253794;esp6500siv2_all=0.2512;ExAC_ALL=0.1900;ExAC_AFR=0.5051;ExAC_AMR=0.2533;ExAC_EAS=0.1657;ExAC_FIN=0.1416;ExAC_NFE=0.1436;ExAC_OTH=0.1888;ExAC_SAS=0.1539;SIFT_score=0.082;SIFT_pred=T;Polyphen2_HDIV_score=0.048;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.062;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.227;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.55;FATHMM_pred=T;phyloP100way_vertebrate=1.310;phyloP20way_mammalian=-0.236;SiPhy_29way_logOdds=12.592;gerp++gt2=4.62;CADD=1.163;CADD_Phred=11.55;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1596,144,0 1 203144198 rs2791720 T C 217.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMYBPH;Func=intronic;Gene=NM_004997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255416.8,ENST00000621380.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2791720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.5953;1000g2015aug_amr=0.5043;1000g2015aug_all=0.45607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 203148633 rs4950927 A G 4328.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=0.856;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=exonic;Gene=NM_001276;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CHI3L1:NM_001276:exon10:c.T1092C:p.C364C;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950927;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=0.9982;ExAC_ALL=0.9988;ExAC_AFR=0.9998;ExAC_AMR=0.9998;ExAC_EAS=0.9998;ExAC_FIN=1;ExAC_NFE=0.9982;ExAC_OTH=0.9989;ExAC_SAS=0.9984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4357,390,0 1 203150073 rs2275351 C T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.465;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.5605;1000g2015aug_amr=0.3429;1000g2015aug_all=0.350639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 203150179 rs2275352 G A 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.122;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e319\x3bName\x3e"358126:MIRb(SINE)";avsnp150=rs2275352;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.5499;1000g2015aug_amr=0.3458;1000g2015aug_all=0.348243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:99:164,0,373 1 203150208 rs2275353 G A 486.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.256;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.028;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e319\x3bName\x3e"358126:MIRb(SINE)";avsnp150=rs2275353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.5386;1000g2015aug_amr=0.3458;1000g2015aug_all=0.345248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,16:37:99:515,0,725 1 203152177 rs946259 C T 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.23;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs946259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.3343;1000g2015aug_all=0.366613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,214 1 203152801 rs880633 T C 1578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.436;DP=124;ExcessHet=3.0103;FS=1.494;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.342;SOR=0.915;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=exonic;Gene=NM_001276;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CHI3L1:NM_001276:exon5:c.A433G:p.R145G;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs880633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.3343;1000g2015aug_all=0.373003;esp6500siv2_all=0.4144;ExAC_ALL=0.4553;ExAC_AFR=0.2141;ExAC_AMR=0.2513;ExAC_EAS=0.3700;ExAC_FIN=0.5475;ExAC_NFE=0.5274;ExAC_OTH=0.5044;ExAC_SAS=0.4635;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.849;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.219;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.173;MutationTaster_pred=P;MutationAssessor_score=1.705;MutationAssessor_pred=L;FATHMM_score=3.44;FATHMM_pred=T;phyloP100way_vertebrate=2.100;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=13.900;gerp++gt2=5.69;CADD=4.224;CADD_Phred=23.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,62:124:99:1607,0,1662 1 203153555 rs12128727 C T 196.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.6;ReadPosRankSum=-0.921;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.5408;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.3285;1000g2015aug_all=0.357628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:225,0,59 1 203153634 rs2071579 C G 728.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.649;DP=43;ExcessHet=3.0103;FS=1.38;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.46;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2071579;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.5437;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.3357;1000g2015aug_all=0.371406;esp6500siv2_all=0.4345;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,26:43:99:757,0,433 1 203154532 rs1538372 A G 2138.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.95;SOR=2.194;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1538372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.7141;1000g2015aug_amr=0.6484;1000g2015aug_all=0.676318;esp6500siv2_all=0.6785;ExAC_ALL=0.6556;ExAC_AFR=0.7105;ExAC_AMR=0.6224;ExAC_EAS=0.6466;ExAC_FIN=0.6321;ExAC_NFE=0.6630;ExAC_OTH=0.6854;ExAC_SAS=0.6270;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2167,188,0 1 203155055 rs4950881 G A 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9464;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.7475;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8761;1000g2015aug_all=0.88139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 203155412 rs111768615 G A 1715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.627;DP=125;ExcessHet=3.0103;FS=2.287;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.895;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111768615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0151757;esp6500siv2_all=0.0204;ExAC_ALL=0.0384;ExAC_AFR=0.0066;ExAC_AMR=0.0314;ExAC_EAS=0;ExAC_FIN=0.0021;ExAC_NFE=0.0487;ExAC_OTH=0.0629;ExAC_SAS=0.0422;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,72:125:99:1744,0,1323 1 203155703 rs7515776 A T 764.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.228;DP=92;ExcessHet=3.0103;FS=0.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.865;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=intronic;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255409.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.1372;1000g2015aug_afr=0.4811;1000g2015aug_amr=0.2896;1000g2015aug_all=0.286142;esp6500siv2_all=0.2385;ExAC_ALL=0.1910;ExAC_AFR=0.4395;ExAC_AMR=0.3563;ExAC_EAS=0.2981;ExAC_FIN=0.0738;ExAC_NFE=0.1292;ExAC_OTH=0.1766;ExAC_SAS=0.1601;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,35:92:99:793,0,1487 1 203155882 rs4950928 G C 1336.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHI3L1;Func=UTR5;Gene=NM_001276;GeneDetail=NM_001276:c.-131C>G;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950928;cosmic70=.;CLNALLELEID=23151;CLNDN=Asthma-related_traits,_susceptibility_to,_7;CLNDISDB=MedGen:C2677770,OMIM:611960;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=risk_factor;gwasCatalog=Name\x3eYKL-40_levels;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.82;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.8271;1000g2015aug_all=0.785543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1365,111,0 1 203155998 rs10399805 G A 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.431;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001276;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10399805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.1332;1000g2015aug_afr=0.441;1000g2015aug_amr=0.3012;1000g2015aug_all=0.27516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 203174864 rs4950932 T C 1707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.029;DP=99;ExcessHet=3.0103;FS=1.95;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.373;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001276,NM_003465;GeneDetail=dist\x3e18942\x3bdist\x3e10343;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5317;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.2983;1000g2015aug_all=0.282748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,55:99:99:1736,0,1075 1 203174921 rs2486951 A G 2471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.528;DP=167;ExcessHet=3.0103;FS=1.236;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.041;SOR=0.576;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001276,NM_003465;GeneDetail=dist\x3e18999\x3bdist\x3e10286;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5744;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.1899;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.2997;1000g2015aug_all=0.292332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:78,89:167:99:2500,0,2074 1 203175107 rs2494296 A C 1052.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.533;DP=70;ExcessHet=3.0103;FS=1.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-1.017;SOR=0.37;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001276,NM_003465;GeneDetail=dist\x3e19185\x3bdist\x3e10100;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2494296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.4781;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.6974;1000g2015aug_all=0.713858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,35:70:99:1081,0,1105 1 203186666 rs41308417 C G 1235.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.035;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.357;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367229.5,ENST00000255427.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41308417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0091853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,46:89:99:1264,0,1387 1 203188692 rs2486958 A C 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.38;DP=28;ExcessHet=3.0103;FS=3.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.56;ReadPosRankSum=0.616;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255427.7,ENST00000367229.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.504;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.7061;1000g2015aug_all=0.67512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,19:28:99:604,0,192 1 203192137 rs3820145 T C 625.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.048;DP=57;ExcessHet=3.0103;FS=4.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.277;SOR=1.436;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255427.7,ENST00000367229.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.2406;1000g2015aug_all=0.241414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,23:57:99:654,0,876 1 203192567 rs2297949 G T 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=56;ExcessHet=3.0103;FS=1.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.327;SOR=0.465;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255427.7,ENST00000367229.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.239;1000g2015aug_amr=0.2248;1000g2015aug_all=0.23762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:762,0,1020 1 203192820 rs10920586 C T 2676.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.287;DP=207;ExcessHet=3.0103;FS=0.538;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.598;SOR=0.626;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367229.5,ENST00000255427.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10920586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.3761;1000g2015aug_all=0.3125;esp6500siv2_all=0.2824;ExAC_ALL=0.3167;ExAC_AFR=0.2789;ExAC_AMR=0.4898;ExAC_EAS=0.3504;ExAC_FIN=0.3203;ExAC_NFE=0.2999;ExAC_OTH=0.2797;ExAC_SAS=0.2702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:103,104:207:99:2705,0,2714 1 203193049 rs3766541 C T 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367229.5,ENST00000255427.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.3761;1000g2015aug_all=0.309904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 203194008 rs2486963 A G 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=intronic;Gene=NM_001256125,NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367229.5,ENST00000255427.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2486963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.494;1000g2015aug_afr=0.5386;1000g2015aug_amr=0.7003;1000g2015aug_all=0.671326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 203194186 rs2297950 C T 1036.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.704;DP=97;ExcessHet=3.0103;FS=0.807;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.17;SOR=0.809;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHIT1;Func=exonic;Gene=NM_001270509,NM_003465;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CHIT1:NM_001270509:exon4:c.G304A:p.G102S,CHIT1:NM_003465:exon4:c.G304A:p.G102S;Gencode=Name\x3eENST00000255427.7,ENST00000367229.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297950;cosmic70=.;CLNALLELEID=24565;CLNDN=Chitotriosidase_deficiency;CLNDISDB=MedGen:C3279902,OMIM:614122;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3231;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.3271;1000g2015aug_all=0.290935;esp6500siv2_all=0.2853;ExAC_ALL=0.3023;ExAC_AFR=0.2674;ExAC_AMR=0.3741;ExAC_EAS=0.2806;ExAC_FIN=0.3187;ExAC_NFE=0.3056;ExAC_OTH=0.2753;ExAC_SAS=0.2673;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=1.815;MutationAssessor_pred=L;FATHMM_score=3.81;FATHMM_pred=T;phyloP100way_vertebrate=6.673;phyloP20way_mammalian=0.855;SiPhy_29way_logOdds=7.755;gerp++gt2=2.59;CADD=6.553;CADD_Phred=31;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,39:97:99:1065,0,1654 1 203274536 rs6682221 C A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_006763,NR_034150,NR_034151;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.877;1000g2015aug_sas=0.8732;1000g2015aug_eur=0.8887;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.9164;1000g2015aug_all=0.85024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 203294803 rs10800911 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_006763,NM_002023;GeneDetail=dist\x3e16074\x3bdist\x3e14946;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10800911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.9986;1000g2015aug_all=0.989018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203311736 rs1891180 T C 774.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.882;DP=51;ExcessHet=3.0103;FS=8.985;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.312;SOR=2.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMOD;Func=intronic;Gene=NM_002023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354955.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.3646;1000g2015aug_all=0.496406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,27:50:99:803,0,608 1 203317162 rs7543148 C T 5858.77 PASS AC=2;AF=1;AN=2;DP=176;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=0.904;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMOD;Func=exonic;Gene=NM_002023;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMOD:NM_002023:exon2:c.G237A:p.E79E;Gencode=Name\x3eENST00000354955.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.68;1000g2015aug_eur=0.8608;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.7925;1000g2015aug_all=0.618411;esp6500siv2_all=0.6686;ExAC_ALL=0.7595;ExAC_AFR=0.3333;ExAC_AMR=0.7511;ExAC_EAS=0.6391;ExAC_FIN=0.8699;ExAC_NFE=0.8380;ExAC_OTH=0.7973;ExAC_SAS=0.7315;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,175:175:99:5887,522,0 1 203318731 rs10753939 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMOD;Func=intronic;Gene=NM_002023;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354955.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8154;1000g2015aug_amr=0.987;1000g2015aug_all=0.949281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203322368 rs6682996 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002023,NM_002725;GeneDetail=dist\x3e1811\x3bdist\x3e122515;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6682996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.8646;1000g2015aug_all=0.798522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 203322440 rs6658726 C A 398.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002023,NM_002725;GeneDetail=dist\x3e1883\x3bdist\x3e122443;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.9414;1000g2015aug_afr=0.7428;1000g2015aug_amr=0.866;1000g2015aug_all=0.798123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:427,33,0 1 203322477 rs6671650 T C 593.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.88;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002023,NM_002725;GeneDetail=dist\x3e1920\x3bdist\x3e122406;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6022;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.866;1000g2015aug_all=0.800519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:622,48,0 1 203322521 rs6658996 G C 776.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002023,NM_002725;GeneDetail=dist\x3e1964\x3bdist\x3e122362;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=1;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.9928;1000g2015aug_all=0.96905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:805,66,0 1 203390195 rs10753944 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002023,NM_002725;GeneDetail=dist\x3e69638\x3bdist\x3e54688;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e556\x3bName\x3e"358582:MLT1J(LTR)";avsnp150=rs10753944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.966;1000g2015aug_amr=1;1000g2015aug_all=0.991014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203452217 rs143162147 G T 845.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.825;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.016;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRELP;Func=intronic;Gene=NM_002725,NM_201348;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343110.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143162147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,33:76:99:874,0,1132 1 203467674 rs144388825 C T 325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.049;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.55;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPTC;Func=intronic;Gene=NM_014359;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367222.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144388825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:354,0,376 1 203626364 rs7544854 C G 544.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=intronic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367218.7,ENST00000357681.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7544854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.987;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:573,42,0 1 203643268 rs7418913 G A 78.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.51;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=intronic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367218.7,ENST00000357681.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7418913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.3674;1000g2015aug_all=0.363219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:106,12,0 1 203650784 rs10751449 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=intronic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357681.9,ENST00000367218.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10751449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.6339;1000g2015aug_amr=0.9366;1000g2015aug_all=0.849641;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 203650786 rs10736845 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=intronic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367218.7,ENST00000357681.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10736845;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.6831;1000g2015aug_amr=0.9395;1000g2015aug_all=0.863019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 203652444 rs1419114 A G 1464.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.302;DP=112;ExcessHet=3.0103;FS=1.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.366;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=exonic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP2B4:NM_001001396:exon2:c.A111G:p.S37S,ATP2B4:NM_001684:exon2:c.A111G:p.S37S;Gencode=Name\x3eENST00000367218.7,ENST00000341360.6,ENST00000357681.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1419114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8763;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.6354;1000g2015aug_amr=0.9366;1000g2015aug_all=0.85004;esp6500siv2_all=0.8289;ExAC_ALL=0.8756;ExAC_AFR=0.6773;ExAC_AMR=0.9451;ExAC_EAS=0.9995;ExAC_FIN=0.8281;ExAC_NFE=0.8862;ExAC_OTH=0.8744;ExAC_SAS=0.8632;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,58:112:99:1493,0,1396 1 203667141 rs12030160 T G 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=0.48;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=intronic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367218.7,ENST00000341360.6,ENST00000357681.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e522\x3bName\x3e"359217:AluJb(SINE)";avsnp150=rs12030160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.593;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.7911;1000g2015aug_all=0.635583;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 203667409 rs2228445 T C 1585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.091;DP=106;ExcessHet=3.0103;FS=7.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.578;SOR=0.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eATP2B4;Func=exonic;Gene=NM_001001396,NM_001684;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ATP2B4:NM_001001396:exon3:c.T318C:p.L106L,ATP2B4:NM_001684:exon3:c.T318C:p.L106L;Gencode=Name\x3eENST00000357681.9,ENST00000341360.6,ENST00000367218.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.6725;1000g2015aug_amr=0.9395;1000g2015aug_all=0.859824;esp6500siv2_all=0.8448;ExAC_ALL=0.8801;ExAC_AFR=0.7269;ExAC_AMR=0.9471;ExAC_EAS=0.9995;ExAC_FIN=0.8281;ExAC_NFE=0.8862;ExAC_OTH=0.8786;ExAC_SAS=0.8635;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,58:106:99:1614,0,1277 1 203740615 rs3737976 T C 705.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.121;DP=44;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.543;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAX1;Func=intronic;Gene=NM_001136190,NM_001282878,NM_017773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367217.5,ENST00000442561.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1042;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.4582;1000g2015aug_all=0.370208;esp6500siv2_all=0.4733;ExAC_ALL=0.4990;ExAC_AFR=0.3682;ExAC_AMR=0.3454;ExAC_EAS=0.0895;ExAC_FIN=0.5575;ExAC_NFE=0.6068;ExAC_OTH=0.5165;ExAC_SAS=0.4436;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:734,0,522 1 203741368 rs3737973 C A 420.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.394;DP=35;ExcessHet=3.0103;FS=3.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.934;SOR=1.325;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAX1;Func=intronic;Gene=NM_001136190,NM_001282878,NM_017773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442561.6,ENST00000367217.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737973;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.4192;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.4539;1000g2015aug_all=0.372005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:449,0,556 1 203743122 rs3820194 G A 1713.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.13;DP=144;ExcessHet=3.0103;FS=0.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.126;SOR=0.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAX1;Func=exonic;Gene=NM_001136190,NM_001282878,NM_017773;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAX1:NM_001136190:exon5:c.G462A:p.S154S,LAX1:NM_001282878:exon5:c.G282A:p.S94S,LAX1:NM_017773:exon5:c.G510A:p.S170S;Gencode=Name\x3eENST00000442561.6,ENST00000367217.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.331;1000g2015aug_afr=0.3222;1000g2015aug_amr=0.1657;1000g2015aug_all=0.294329;esp6500siv2_all=0.3225;ExAC_ALL=0.3066;ExAC_AFR=0.3148;ExAC_AMR=0.1444;ExAC_EAS=0.2572;ExAC_FIN=0.3568;ExAC_NFE=0.3223;ExAC_OTH=0.3337;ExAC_SAS=0.3561;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,67:144:99:1742,0,2099 1 203743653 rs3766748 C T 1963.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.32;DP=144;ExcessHet=3.0103;FS=3.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.907;SOR=0.986;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAX1;Func=exonic;Gene=NM_001136190,NM_001282878,NM_017773;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAX1:NM_001136190:exon5:c.C993T:p.D331D,LAX1:NM_001282878:exon5:c.C813T:p.D271D,LAX1:NM_017773:exon5:c.C1041T:p.D347D;Gencode=Name\x3eENST00000367217.5,ENST00000442561.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766748;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.331;1000g2015aug_afr=0.289;1000g2015aug_amr=0.1628;1000g2015aug_all=0.285144;esp6500siv2_all=0.3148;ExAC_ALL=0.3044;ExAC_AFR=0.2904;ExAC_AMR=0.1431;ExAC_EAS=0.2568;ExAC_FIN=0.3567;ExAC_NFE=0.3223;ExAC_OTH=0.3304;ExAC_SAS=0.3564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,68:144:99:1992,0,2250 1 203767822 rs6697388 T G 1559.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.018;DP=111;ExcessHet=3.0103;FS=1.534;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.133;SOR=0.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBED6,ZC3H11A;Func=exonic;Gene=NM_001174108;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZBED6:NM_001174108:exon1:c.T1172G:p.L391R;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000367212.7,ENST00000550078.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.1248;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0910543;esp6500siv2_all=.;ExAC_ALL=0.1003;ExAC_AFR=0.1354;ExAC_AMR=0.1183;ExAC_EAS=0.0455;ExAC_FIN=0.5;ExAC_NFE=0.1186;ExAC_OTH=0.0606;ExAC_SAS=0.0907;SIFT_score=0.268;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.59;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.500;phyloP20way_mammalian=0.079;SiPhy_29way_logOdds=5.944;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,58:111:99:1588,0,1508 1 203768328 rs7552670 T C 341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.78;DP=40;ExcessHet=3.0103;FS=1.278;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.377;SOR=0.645;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A,ZBED6;Func=exonic;Gene=NM_001174108;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZBED6:NM_001174108:exon1:c.T1678C:p.F560L;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000367212.7,ENST00000550078.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1171\x3bName\x3e"359473:OldhAT1(DNA)";avsnp150=rs7552670;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.229;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.3213;1000g2015aug_all=0.183706;esp6500siv2_all=.;ExAC_ALL=0.1637;ExAC_AFR=0.0511;ExAC_AMR=0.1630;ExAC_EAS=0.2828;ExAC_FIN=0;ExAC_NFE=0.1168;ExAC_OTH=0.0985;ExAC_SAS=0.1920;SIFT_score=0.084;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.935;MutationAssessor_pred=L;FATHMM_score=2.02;FATHMM_pred=T;phyloP100way_vertebrate=1.655;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=13.661;gerp++gt2=5.17;CADD=1.853;CADD_Phred=15.30;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:370,0,743 1 203769392 rs766339473 A G 471.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.438;DP=41;ExcessHet=3.0103;FS=2.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.065;SOR=0.362;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBED6,ZC3H11A;Func=exonic;Gene=NM_001174108;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZBED6:NM_001174108:exon1:c.A2742G:p.Q914Q;Gencode=Name\x3eENST00000550078.1,ENST00000545588.5,ENST00000367212.7,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e284\x3bName\x3e"359474:OldhAT1(DNA)";avsnp150=rs766339473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,19:41:99:500,0,621 1 203769532 rs7540041 G A 208.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.631;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.616;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZBED6,ZC3H11A;Func=exonic;Gene=NM_001174108;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ZBED6:NM_001174108:exon1:c.G2882A:p.S961N;Gencode=Name\x3eENST00000367214.5,ENST00000332127.8,ENST00000545588.5,ENST00000550078.1,ENST00000367212.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e284\x3bName\x3e"359474:OldhAT1(DNA)";avsnp150=rs7540041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.0499;1000g2015aug_amr=0.3199;1000g2015aug_all=0.183706;esp6500siv2_all=.;ExAC_ALL=0.1786;ExAC_AFR=0.0509;ExAC_AMR=0.1667;ExAC_EAS=0.2857;ExAC_FIN=0;ExAC_NFE=0.1303;ExAC_OTH=0.1207;ExAC_SAS=0.2099;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=1.565;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=7.635;gerp++gt2=3.99;CADD=3.020;CADD_Phred=22.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:237,0,344 1 203787700 rs4951260 T C 904.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=exonic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ZC3H11A:NM_001350264:exon4:c.T57C:p.G19G,ZC3H11A:NM_001350263:exon5:c.T57C:p.G19G,ZC3H11A:NM_001350265:exon5:c.T57C:p.G19G,ZC3H11A:NM_001319238:exon6:c.T57C:p.G19G,ZC3H11A:NM_001319239:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350261:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350262:exon6:c.T57C:p.G19G,ZC3H11A:NM_001350266:exon6:c.T57C:p.G19G,ZC3H11A:NM_014827:exon6:c.T57C:p.G19G;Gencode=Name\x3eENST00000367212.7,ENST00000545588.5,ENST00000367210.1,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978834;esp6500siv2_all=0.9757;ExAC_ALL=0.9936;ExAC_AFR=0.9307;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:933,78,0 1 203797335 rs35073773 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000367212.7,ENST00000367210.1,ENST00000545588.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35073773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0547125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 203797384 rs36111209 A G 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.127;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.281;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367214.5,ENST00000332127.8,ENST00000545588.5,ENST00000367210.1,ENST00000367212.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs36111209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0547125;esp6500siv2_all=0.1050;ExAC_ALL=0.1070;ExAC_AFR=0.0447;ExAC_AMR=0.0377;ExAC_EAS=0.0005;ExAC_FIN=0.1867;ExAC_NFE=0.1405;ExAC_OTH=0.1301;ExAC_SAS=0.0837;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:279,0,249 1 203798347 rs6665955 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367210.1,ENST00000545588.5,ENST00000367212.7,ENST00000367214.5,ENST00000332127.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 203799343 rs12239438 C T 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.091;DP=32;ExcessHet=3.0103;FS=5.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.631;SOR=1.506;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367214.5,ENST00000332127.8,ENST00000367212.7,ENST00000545588.5,ENST00000367210.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12239438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.1243;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0563099;esp6500siv2_all=0.1061;ExAC_ALL=0.1064;ExAC_AFR=0.0504;ExAC_AMR=0.0374;ExAC_EAS=0.0005;ExAC_FIN=0.1852;ExAC_NFE=0.1381;ExAC_OTH=0.1312;ExAC_SAS=0.0831;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,10:32:99:222,0,607 1 203800715 rs2275324 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-0.405;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545588.5,ENST00000367210.1,ENST00000367212.7,ENST00000367214.5,ENST00000332127.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1272;1000g2015aug_afr=0.1225;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0898562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 203800735 rs2275325 G C 551.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545588.5,ENST00000367210.1,ENST00000367212.7,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.319;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.1694;1000g2015aug_amr=0.3761;1000g2015aug_all=0.273562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:580,45,0 1 203803016 rs6694647 A G 955.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367214.5,ENST00000332127.8,ENST00000545588.5,ENST00000367210.1,ENST00000367212.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978834;esp6500siv2_all=0.9759;ExAC_ALL=0.9936;ExAC_AFR=0.9309;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9997;ExAC_OTH=0.9923;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:984,96,0 1 203807233 rs12078328 T C 560.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.554;DP=28;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.03;ReadPosRankSum=-0.353;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545588.5,ENST00000367210.1,ENST00000367212.7,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12078328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.1112;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0870607;esp6500siv2_all=0.1332;ExAC_ALL=0.1209;ExAC_AFR=0.1272;ExAC_AMR=0.0479;ExAC_EAS=0.0409;ExAC_FIN=0.1860;ExAC_NFE=0.1431;ExAC_OTH=0.1415;ExAC_SAS=0.0896;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,17:28:99:589,0,307 1 203807273 rs34947847 A G 380.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.389;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=0.167;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367212.7,ENST00000545588.5,ENST00000367210.1,ENST00000367214.5,ENST00000332127.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34947847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0565096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:409,0,276 1 203817549 rs12086293 T C 201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.471;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=2.287;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367212.7,ENST00000367210.1,ENST00000545588.5,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12086293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0872604;esp6500siv2_all=0.1330;ExAC_ALL=0.1179;ExAC_AFR=0.1254;ExAC_AMR=0.0461;ExAC_EAS=0.0396;ExAC_FIN=0.1853;ExAC_NFE=0.1396;ExAC_OTH=0.1372;ExAC_SAS=0.0884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:230,0,131 1 203817608 rs12085020 A G 171.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=0.157;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000367212.7,ENST00000545588.5,ENST00000367210.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12085020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:200,0,18 1 203817620 rs12078932 G C 160.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.8;ReadPosRankSum=0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367212.7,ENST00000367210.1,ENST00000545588.5,ENST00000332127.8,ENST00000367214.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12078932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0694888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:189,0,24 1 203818654 rs11240603 A C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000545588.5,ENST00000367210.1,ENST00000367212.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0872604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 203819203 rs11240605 A G 643.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.361;DP=45;ExcessHet=3.0103;FS=1.857;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.398;SOR=0.325;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000332127.8,ENST00000367214.5,ENST00000367212.7,ENST00000367210.1,ENST00000545588.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.980167\x3bName\x3echr6:65304142;Repeat=.;avsnp150=rs11240605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0357;1000g2015aug_sas=0.0869;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0872604;esp6500siv2_all=0.1217;ExAC_ALL=0.1179;ExAC_AFR=0.1268;ExAC_AMR=0.0458;ExAC_EAS=0.0399;ExAC_FIN=0.1855;ExAC_NFE=0.1402;ExAC_OTH=0.1400;ExAC_SAS=0.0894;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,21:45:99:672,0,774 1 203821200 rs7512877 G A 905.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZC3H11A;Func=intronic;Gene=NM_001319238,NM_001319239,NM_001350261,NM_001350262,NM_001350263,NM_001350264,NM_001350265,NM_001350266,NM_014827;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367214.5,ENST00000332127.8,ENST00000367212.7,ENST00000367210.1,ENST00000545588.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.980167\x3bName\x3echr6:65304142;Repeat=.;avsnp150=rs7512877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:934,72,0 1 203831261 rs11240609 G A 592.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.188;DP=47;ExcessHet=3.0103;FS=2.509;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.512;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRPE;Func=intronic;Gene=NM_001304464,NM_001328637,NM_001328638,NM_003094;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414487.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.0533;1000g2015aug_all=0.0870607;esp6500siv2_all=0.1172;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:621,0,581 1 203832964 rs71631773 A G 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=21;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.599;SOR=0.162;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRPE;Func=intronic;Gene=NM_001304464,NM_001328637,NM_001328638,NM_003094;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367208.1,ENST00000414487.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71631773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.049;1000g2015aug_all=0.0704872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:240,0,316 1 203833111 rs6697629 T C 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNRPE;Func=intronic;Gene=NM_001304464,NM_001328637,NM_001328638,NM_003094;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414487.6,ENST00000367208.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1903\x3bName\x3e"359633:AluJb(SINE)";avsnp150=rs6697629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.771;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.7867;1000g2015aug_all=0.765575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 203841944 rs4354590 G T 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e1664\x3bdist\x3e159631;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4354590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 203842524 rs4604758 C T 180.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.83;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e2244\x3bdist\x3e159051;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4604758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.771;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.7867;1000g2015aug_all=0.765575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:209,21,0 1 203842542 rs12066198 T A 144.53 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.593;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e2262\x3bdist\x3e159033;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12066198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0387;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0204;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0567093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,8:9:3:171,0,3 1 203842596 rs4291557 A G 286.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e2316\x3bdist\x3e158979;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4291557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.771;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.7042;1000g2015aug_amr=0.7867;1000g2015aug_all=0.765575;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:315,30,0 1 203901528 rs34035759 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e61248\x3bdist\x3e100047;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e538\x3bName\x3e"359838:MLT1N2(LTR)";avsnp150=rs34035759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0221645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 203911988 rs11591139 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e71708\x3bdist\x3e89587;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2590\x3bName\x3e"359865:AluY(SINE)";avsnp150=rs11591139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0216;1000g2015aug_all=0.0219649;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 203993172 rs4951287 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003094,NR_027902;GeneDetail=dist\x3e152892\x3bdist\x3e8403;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1796\x3bName\x3e"360109:AluJr4(SINE)";avsnp150=rs4951287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.3185;1000g2015aug_amr=0.6052;1000g2015aug_all=0.58107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 204005917 rs4951289 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.18;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00303;Func=ncRNA_intronic;Gene=NR_027902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367207.7,ENST00000427799.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2411\x3bName\x3e"360144:AluSg(SINE)";avsnp150=rs4951289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.951;1000g2015aug_all=0.895966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 204006538 rs4951291 T C 778.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.657;DP=40;ExcessHet=3.0103;FS=7.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.47;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00303;Func=ncRNA_intronic;Gene=NR_027902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367207.7,ENST00000427799.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.951;1000g2015aug_all=0.895567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,24:40:99:807,0,479 1 204006597 rs4951039 G A 1060.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.6;DP=63;ExcessHet=3.0103;FS=2.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=0.076;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00303;Func=ncRNA_exonic;Gene=NR_027902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427799.1,ENST00000367207.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.82;1000g2015aug_eur=0.8688;1000g2015aug_afr=0.9372;1000g2015aug_amr=0.9409;1000g2015aug_all=0.864417;esp6500siv2_all=0.8949;ExAC_ALL=0.8688;ExAC_AFR=0.9324;ExAC_AMR=0.9521;ExAC_EAS=0.7423;ExAC_FIN=0.8451;ExAC_NFE=0.8743;ExAC_OTH=0.8656;ExAC_SAS=0.8258;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,35:63:99:1089,0,740 1 204010389 rs10437107 G T 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.128;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.175;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00303;Func=ncRNA_exonic;Gene=NR_027902;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427799.1,ENST00000367207.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10437107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.818;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8804;1000g2015aug_all=0.877995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:395,0,433 1 204044566 rs4951300 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOX13;Func=intronic;Gene=NM_005686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367204.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7183;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.913;1000g2015aug_amr=0.9135;1000g2015aug_all=0.836861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 204081892 rs2250538 C T 1296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.566;DP=93;ExcessHet=3.0103;FS=3.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.439;SOR=0.783;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOX13;Func=intronic;Gene=NM_005686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367204.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2250538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.3026;1000g2015aug_all=0.346246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,49:93:99:1325,0,1364 1 204085609 rs7551756 A G 2153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.382;DP=126;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.235;SOR=0.738;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOX13;Func=intronic;Gene=NM_005686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367204.5,ENST00000618875.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7551756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.3184;1000g2015aug_all=0.395567;esp6500siv2_all=0.3251;ExAC_ALL=0.3782;ExAC_AFR=0.2780;ExAC_AMR=0.3417;ExAC_EAS=0.7341;ExAC_FIN=0.4116;ExAC_NFE=0.3640;ExAC_OTH=0.3705;ExAC_SAS=0.3216;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,73:126:99:2182,0,1501 1 204094902 rs2692010 T C 1181.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=3.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSOX13;Func=intronic;Gene=NM_005686;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000618875.4,ENST00000367204.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2692010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9775;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9467;1000g2015aug_all=0.920128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1210,93,0 1 204101681 rs1917540 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367197.5,ENST00000367201.7,ENST00000367202.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2064\x3bName\x3e"360396:AluJb(SINE)";avsnp150=rs1917540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.591;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.67;1000g2015aug_all=0.479233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204103440 rs11240675 A G 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367197.5,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240675;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9871;1000g2015aug_afr=0.7806;1000g2015aug_amr=0.9524;1000g2015aug_all=0.93131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 204103618 rs2293335 G A 3404.77 PASS AC=2;AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367201.7,ENST00000367197.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3ePeriodontitis_(CDC/AAP);1000g2015aug_eas=0.5298;1000g2015aug_sas=0.589;1000g2015aug_eur=0.6889;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.6715;1000g2015aug_all=0.49361;esp6500siv2_all=0.5434;ExAC_ALL=0.6372;ExAC_AFR=0.2436;ExAC_AMR=0.7355;ExAC_EAS=0.5303;ExAC_FIN=0.7095;ExAC_NFE=0.6943;ExAC_OTH=0.6547;ExAC_SAS=0.5975;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,102:102:99:3433,305,0 1 204110334 rs10793755 A G 1969.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367197.5,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10793755;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.9861;1000g2015aug_afr=0.8457;1000g2015aug_amr=0.9611;1000g2015aug_all=0.948682;esp6500siv2_all=.;ExAC_ALL=0.9691;ExAC_AFR=0.8784;ExAC_AMR=0.9812;ExAC_EAS=0.9983;ExAC_FIN=0.9437;ExAC_NFE=0.9740;ExAC_OTH=0.9667;ExAC_SAS=0.9906;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1998,174,0 1 204115548 rs1106778 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e365\x3bName\x3e"360425:MIRc(SINE)";avsnp150=rs1106778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3562;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.337;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.5086;1000g2015aug_all=0.416334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 204115586 rs940651 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs940651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.9438;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.8703;1000g2015aug_all=0.884585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 204115652 rs564069866 C T 396.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.774;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.45;ReadPosRankSum=-2.125;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs564069866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,13:15:38:425,0,38 1 204115934 rs2293337 C T 2276.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.937;DP=163;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.682;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367202.8,ENST00000367201.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2293337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.2219;1000g2015aug_all=0.20028;esp6500siv2_all=0.2793;ExAC_ALL=0.2751;ExAC_AFR=0.1890;ExAC_AMR=0.2705;ExAC_EAS=0.1608;ExAC_FIN=0.3334;ExAC_NFE=0.3145;ExAC_OTH=0.2952;ExAC_SAS=0.2088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,82:163:99:2305,0,2178 1 204118644 rs188773529 C T 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.411;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.228;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eETNK2;Func=intronic;Gene=NM_001297760,NM_001297761,NM_001297762,NM_018208;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367201.7,ENST00000367202.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs188773529;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00159744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:297,0,171 1 204124560 rs11571090 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11571090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0109;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0058;1000g2015aug_all=0.00319489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204124865 rs2368564 C T 634.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.153;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.416;SOR=0.663;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2368564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.7405;1000g2015aug_amr=0.3012;1000g2015aug_all=0.370407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,25:58:99:663,0,917 1 204125272 rs3795574 C A 1010.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.164;DP=68;ExcessHet=3.0103;FS=5.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.46;SOR=1.521;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.1066;1000g2015aug_all=0.216054;esp6500siv2_all=0.2188;ExAC_ALL=0.1529;ExAC_AFR=0.4030;ExAC_AMR=0.0874;ExAC_EAS=0.1206;ExAC_FIN=0.1232;ExAC_NFE=0.1306;ExAC_OTH=0.1608;ExAC_SAS=0.1596;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,35:68:99:1039,0,833 1 204125987 rs3730103 T C 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.197;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.298;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3730103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0348;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.0533;1000g2015aug_all=0.114816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:255,0,471 1 204126417 rs3730101 G T 792.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.819;DP=69;ExcessHet=3.0103;FS=6.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.652;SOR=1.513;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3730101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00179712;esp6500siv2_all=0.0061;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,31:69:99:821,0,1003 1 204128273 rs11571085 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e608\x3bName\x3e"360444:MER3(DNA)";avsnp150=rs11571085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0311502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 204130376 rs2272237 G C 1312.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.163;DP=146;ExcessHet=3.0103;FS=1.458;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.015;SOR=0.53;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eREN;Func=intronic;Gene=NM_000537;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272190.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.3618;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.1931;1000g2015aug_all=0.195487;esp6500siv2_all=0.2588;ExAC_ALL=0.2897;ExAC_AFR=0.0576;ExAC_AMR=0.1513;ExAC_EAS=0.1654;ExAC_FIN=0.3234;ExAC_NFE=0.3635;ExAC_OTH=0.2689;ExAC_SAS=0.2925;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:92,52:144:99:1341,0,2548 1 204159922 rs35431622 T C 312.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.862;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=1.394;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKISS1;Func=exonic;Gene=NM_002256;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KISS1:NM_002256:exon3:c.A107G:p.Q36R;Gencode=Name\x3eENST00000625357.1,ENST00000367194.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35431622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0204;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0750799;esp6500siv2_all=0.0775;ExAC_ALL=0.0544;ExAC_AFR=0.2226;ExAC_AMR=0.0336;ExAC_EAS=0.0004;ExAC_FIN=0.0511;ExAC_NFE=0.0502;ExAC_OTH=0.0526;ExAC_SAS=0.0353;SIFT_score=0.595;SIFT_pred=T;Polyphen2_HDIV_score=0.1;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.206;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.975;MutationAssessor_pred=L;FATHMM_score=-0.52;FATHMM_pred=T;phyloP100way_vertebrate=-0.293;phyloP20way_mammalian=0.113;SiPhy_29way_logOdds=1.306;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:341,0,544 1 204182765 rs12098036 G A 90.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGOLT1A;Func=intronic;Gene=NM_198447;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308302.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12098036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2093;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.2262;1000g2015aug_all=0.308307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:118,9,0 1 204197657 rs4076530 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.44;SOR=2.8;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4076530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.5389;1000g2015aug_all=0.510982;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 204198209 rs3795571 A G 162.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.616;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.831;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=exonic;Gene=NM_014935;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLEKHA6:NM_014935:exon19:c.T2607C:p.H869H;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.5389;1000g2015aug_all=0.51238;esp6500siv2_all=0.5267;ExAC_ALL=0.4885;ExAC_AFR=0.6721;ExAC_AMR=0.5582;ExAC_EAS=0.5020;ExAC_FIN=0.4358;ExAC_NFE=0.4728;ExAC_OTH=0.4302;ExAC_SAS=0.4050;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:191,0,134 1 204199614 rs10900562 C T 791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.901;DP=47;ExcessHet=3.0103;FS=2.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=1.106;SOR=1.296;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=exonic;Gene=NM_014935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLEKHA6:NM_014935:exon18:c.G2510A:p.R837K;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10900562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.5375;1000g2015aug_all=0.510583;esp6500siv2_all=0.5241;ExAC_ALL=0.5382;ExAC_AFR=0.6849;ExAC_AMR=0.6266;ExAC_EAS=0.5426;ExAC_FIN=0.5560;ExAC_NFE=0.5363;ExAC_OTH=0.4899;ExAC_SAS=0.4258;SIFT_score=0.604;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.125;MutationAssessor_pred=N;FATHMM_score=1.94;FATHMM_pred=T;phyloP100way_vertebrate=3.203;phyloP20way_mammalian=-0.307;SiPhy_29way_logOdds=9.009;gerp++gt2=2.91;CADD=1.319;CADD_Phred=12.37;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,29:47:99:820,0,399 1 204210750 rs4412655 C A 782.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.356;DP=51;ExcessHet=3.0103;FS=2.556;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.876;SOR=0.38;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4412655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.4467;1000g2015aug_all=0.327676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:811,0,826 1 204210791 rs4951325 G A 789.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.8;ReadPosRankSum=0.534;SOR=0.648;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1853;1000g2015aug_amr=0.4467;1000g2015aug_all=0.327875;esp6500siv2_all=0.3235;ExAC_ALL=0.3831;ExAC_AFR=0.2305;ExAC_AMR=0.4923;ExAC_EAS=0.4984;ExAC_FIN=0.3937;ExAC_NFE=0.3785;ExAC_OTH=0.3464;ExAC_SAS=0.3429;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:818,0,567 1 204213714 rs12031222 G C 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.863;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-1.092;SOR=2.215;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12031222;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.5328;1000g2015aug_afr=0.2988;1000g2015aug_amr=0.4409;1000g2015aug_all=0.446086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:328,0,198 1 204216410 rs4951329 C T 1146.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.947;DP=95;ExcessHet=3.0103;FS=7.338;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.255;SOR=1.489;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951329;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.547;1000g2015aug_eur=0.6213;1000g2015aug_afr=0.767;1000g2015aug_amr=0.7752;1000g2015aug_all=0.704273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,42:95:99:1175,0,1472 1 204216468 rs4512713 C T 1599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.865;DP=132;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.077;SOR=0.647;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4512713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5256;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.7608;1000g2015aug_all=0.66893;esp6500siv2_all=0.6498;ExAC_ALL=0.6703;ExAC_AFR=0.6778;ExAC_AMR=0.8040;ExAC_EAS=0.8156;ExAC_FIN=0.6885;ExAC_NFE=0.6490;ExAC_OTH=0.6387;ExAC_SAS=0.5766;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:66,64:130:99:1628,0,1786 1 204216601 rs4288652 G A 1714.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.242;DP=122;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.77;SOR=0.692;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4288652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.7608;1000g2015aug_all=0.667732;esp6500siv2_all=0.6499;ExAC_ALL=0.6695;ExAC_AFR=0.6778;ExAC_AMR=0.8021;ExAC_EAS=0.8163;ExAC_FIN=0.6896;ExAC_NFE=0.6488;ExAC_OTH=0.64;ExAC_SAS=0.5718;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,65:122:99:1743,0,1504 1 204216762 rs4245724 C T 375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.987;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.683;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4245724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.7608;1000g2015aug_all=0.667732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,14:22:99:404,0,234 1 204217562 rs10900566 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2293\x3bName\x3e"360617:AluSp(SINE)";avsnp150=rs10900566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.7594;1000g2015aug_all=0.654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204218633 rs10900567 G C 645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.098;DP=66;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=1.018;SOR=1.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10900567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.767;1000g2015aug_amr=0.7752;1000g2015aug_all=0.705471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,26:65:99:674,0,1024 1 204218714 rs12041137 T C 1046.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12041137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9942;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1075,96,0 1 204219559 rs3795570 T G 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.271;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.6193;1000g2015aug_afr=0.7466;1000g2015aug_amr=0.7709;1000g2015aug_all=0.69389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:241,0,367 1 204219850 rs4951331 G A 761.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.834;DP=61;ExcessHet=3.0103;FS=3.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.448;SOR=0.364;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5542;1000g2015aug_eur=0.6183;1000g2015aug_afr=0.767;1000g2015aug_amr=0.7752;1000g2015aug_all=0.705072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:790,0,947 1 204221032 rs4951332 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.282;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951332;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.7507;1000g2015aug_all=0.652556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 204230581 rs3795569 G A 165.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.537;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-1.716;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.696;1000g2015aug_all=0.597644;esp6500siv2_all=0.5569;ExAC_ALL=0.6058;ExAC_AFR=0.5605;ExAC_AMR=0.7580;ExAC_EAS=0.8158;ExAC_FIN=0.7007;ExAC_NFE=0.5648;ExAC_OTH=0.5792;ExAC_SAS=0.5386;SIFT_score=0.169;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.42;FATHMM_pred=T;phyloP100way_vertebrate=4.630;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=9.986;gerp++gt2=4.64;CADD=1.868;CADD_Phred=15.39;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,8:24:99:194,0,489 1 204234222 rs4076020 T C 1272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.054;DP=76;ExcessHet=3.0103;FS=2.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.35;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"360637:(GT)n(Simple_repeat)";avsnp150=rs4076020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8036;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.664;1000g2015aug_afr=0.7625;1000g2015aug_amr=0.7061;1000g2015aug_all=0.702077;esp6500siv2_all=0.6925;ExAC_ALL=0.6948;ExAC_AFR=0.7592;ExAC_AMR=0.7191;ExAC_EAS=0.8113;ExAC_FIN=0.7506;ExAC_NFE=0.6845;ExAC_OTH=0.6652;ExAC_SAS=0.5968;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,34:76:99:1301,0,2486 1 204234225 rs4073136 G A 1272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.334;DP=75;ExcessHet=3.0103;FS=2.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.287;SOR=0.455;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"360637:(GT)n(Simple_repeat)";avsnp150=rs4073136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.5288;1000g2015aug_all=0.464257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,34:75:99:1301,0,2486 1 204236360 rs4951339 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414478.1,ENST00000272203.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.545;1000g2015aug_eur=0.66;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.7622;1000g2015aug_all=0.634784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 204236377 rs4951340 A G 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=-0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8363;1000g2015aug_sas=0.546;1000g2015aug_eur=0.663;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.7824;1000g2015aug_all=0.703874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 204237416 rs10900571 C T 2931.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.333;DP=247;ExcessHet=3.0103;FS=2.819;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.787;SOR=0.522;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=exonic;Gene=NM_014935;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLEKHA6:NM_014935:exon4:c.G127A:p.V43I;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10900571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.546;1000g2015aug_eur=0.661;1000g2015aug_afr=0.475;1000g2015aug_amr=0.7637;1000g2015aug_all=0.632588;esp6500siv2_all=0.6163;ExAC_ALL=0.6810;ExAC_AFR=0.4996;ExAC_AMR=0.8202;ExAC_EAS=0.8165;ExAC_FIN=0.7545;ExAC_NFE=0.6828;ExAC_OTH=0.6711;ExAC_SAS=0.5901;SIFT_score=0.483;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.038;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.445;MutationAssessor_pred=N;FATHMM_score=2.77;FATHMM_pred=T;phyloP100way_vertebrate=1.445;phyloP20way_mammalian=-0.720;SiPhy_29way_logOdds=10.037;gerp++gt2=.;CADD=1.676;CADD_Phred=14.27;ALLELE_END GT:AD:DP:GQ:PL 0/1:132,115:247:99:2960,0,3558 1 204301484 rs4077065 G A 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLEKHA6;Func=intronic;Gene=NM_014935;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272203.7,ENST00000414478.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4077065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9205;1000g2015aug_afr=0.7375;1000g2015aug_amr=0.9452;1000g2015aug_all=0.886182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 204365993 rs2942144 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027022,NM_032833;GeneDetail=dist\x3e27146\x3bdist\x3e6499;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443515.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1572\x3bName\x3e"360890:L1MA8(LINE)";avsnp150=rs2942144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.9056;1000g2015aug_afr=0.73;1000g2015aug_amr=0.8674;1000g2015aug_all=0.71865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 204365997 rs2942145 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027022,NM_032833;GeneDetail=dist\x3e27150\x3bdist\x3e6495;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000443515.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1572\x3bName\x3e"360890:L1MA8(LINE)";avsnp150=rs2942145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.1778;1000g2015aug_amr=0.6974;1000g2015aug_all=0.477037;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 204379133 rs141538150 T A 1194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.216;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.091;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP1R15B;Func=exonic;Gene=NM_032833;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PPP1R15B:NM_032833:exon1:c.A1407T:p.E469D;Gencode=Name\x3eENST00000367188.4,ENST00000443515.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141538150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=0.0012;ExAC_ALL=0.0008;ExAC_AFR=0.0006;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0013;ExAC_OTH=0.0011;ExAC_SAS=0;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.896;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.753;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.725;MutationAssessor_pred=M;FATHMM_score=1.07;FATHMM_pred=T;phyloP100way_vertebrate=-1.649;phyloP20way_mammalian=-0.218;SiPhy_29way_logOdds=8.171;gerp++gt2=.;CADD=2.932;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,44:78:99:1223,0,881 1 204409281 rs3014631 C G 3440.77 PASS AC=2;AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.742;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.6732;1000g2015aug_amr=0.9899;1000g2015aug_all=0.912141;esp6500siv2_all=0.9136;ExAC_ALL=0.9755;ExAC_AFR=0.7354;ExAC_AMR=0.9904;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9990;ExAC_OTH=0.9911;ExAC_SAS=0.9995;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3469,297,0 1 204410447 rs2999496 A G 585.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e818\x3bName\x3e"360972:L3(LINE)";avsnp150=rs2999496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.6732;1000g2015aug_amr=0.9899;1000g2015aug_all=0.912141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:614,45,0 1 204410861 rs2942125 T C 343.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.05;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2942125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.6528;1000g2015aug_amr=0.9899;1000g2015aug_all=0.906749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:372,27,0 1 204411357 rs2271425 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9236;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.994;1000g2015aug_afr=0.5772;1000g2015aug_amr=0.938;1000g2015aug_all=0.861821;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 204412105 rs2942126 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e273\x3bName\x3e"360974:Charlie8(DNA)";avsnp150=rs2942126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.9798;1000g2015aug_all=0.896965;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 204413297 rs2292459 C T 4234.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.896;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.494;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.4236;1000g2015aug_amr=0.7723;1000g2015aug_all=0.610823;esp6500siv2_all=0.7105;ExAC_ALL=0.7286;ExAC_AFR=0.4971;ExAC_AMR=0.7488;ExAC_EAS=0.4810;ExAC_FIN=0.7196;ExAC_NFE=0.8016;ExAC_OTH=0.7080;ExAC_SAS=0.7003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:4263,286,0 1 204413299 rs2292460 G A 4234.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.45;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2292460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.7594;1000g2015aug_all=0.561502;esp6500siv2_all=0.6927;ExAC_ALL=0.7081;ExAC_AFR=0.4464;ExAC_AMR=0.7411;ExAC_EAS=0.3514;ExAC_FIN=0.7192;ExAC_NFE=0.7992;ExAC_OTH=0.7002;ExAC_SAS=0.6650;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:4263,286,0 1 204413740 rs3014632 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.81;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8929;1000g2015aug_sas=0.953;1000g2015aug_eur=0.997;1000g2015aug_afr=0.5938;1000g2015aug_amr=0.9697;1000g2015aug_all=0.857228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 204413748 rs3014633 C T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.354;1000g2015aug_amr=0.7594;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 204418198 rs2271427 T C 746.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.8357;1000g2015aug_all=0.672923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:775,63,0 1 204418645 rs3014636 C T 215.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e295\x3bName\x3e"360985:L3(LINE)";avsnp150=rs3014636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.993;1000g2015aug_afr=0.6029;1000g2015aug_amr=0.9308;1000g2015aug_all=0.865216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:244,18,0 1 204418889 rs2999492 C T 768.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2999492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.7744;1000g2015aug_afr=0.4614;1000g2015aug_amr=0.7738;1000g2015aug_all=0.61861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:797,63,0 1 204418939 rs3014637 C T 1325.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6534;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.7579;1000g2015aug_all=0.557907;esp6500siv2_all=0.6878;ExAC_ALL=0.7174;ExAC_AFR=0.4461;ExAC_AMR=0.7509;ExAC_EAS=0.3653;ExAC_FIN=0.7344;ExAC_NFE=0.8016;ExAC_OTH=0.7086;ExAC_SAS=0.6864;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1354,114,0 1 204425431 rs2942143 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e780\x3bName\x3e"360997:Charlie18a(DNA)";avsnp150=rs2942143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.2897;1000g2015aug_amr=0.817;1000g2015aug_all=0.561302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204425461 rs3014599 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e780\x3bName\x3e"360997:Charlie18a(DNA)";avsnp150=rs3014599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.7823;1000g2015aug_afr=0.289;1000g2015aug_amr=0.817;1000g2015aug_all=0.561302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204426052 rs2999490 A C 966.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e56\x3bName\x3e"360999:(AC)n(Simple_repeat)";avsnp150=rs2999490;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.3502;1000g2015aug_amr=0.8184;1000g2015aug_all=0.577077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:995,69,0 1 204429212 rs5013460 A T 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5013460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.954;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.9813;1000g2015aug_all=0.887181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 204429213 rs5013459 T G 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5013459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.954;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.9813;1000g2015aug_all=0.887181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 204429215 rs5013458 T A 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5013458;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.954;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.9813;1000g2015aug_all=0.887181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 204429216 rs5013457 A G 601.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.04;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5013457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8968;1000g2015aug_sas=0.954;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6974;1000g2015aug_amr=0.9813;1000g2015aug_all=0.887181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:630,42,0 1 204429285 rs2999485 A G 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2999485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7277;1000g2015aug_amr=0.9856;1000g2015aug_all=0.925519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 204429838 rs2271414 C G 3880.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=0.812;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8224;1000g2015aug_sas=0.9387;1000g2015aug_eur=0.9901;1000g2015aug_afr=0.3487;1000g2015aug_amr=0.8991;1000g2015aug_all=0.764377;esp6500siv2_all=0.8202;ExAC_ALL=0.9138;ExAC_AFR=0.4589;ExAC_AMR=0.8640;ExAC_EAS=0.7964;ExAC_FIN=0.9847;ExAC_NFE=0.9914;ExAC_OTH=0.9395;ExAC_SAS=0.9429;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:3909,369,0 1 204430194 rs2942139 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2942139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8978;1000g2015aug_sas=0.954;1000g2015aug_eur=0.996;1000g2015aug_afr=0.5666;1000g2015aug_amr=0.964;1000g2015aug_all=0.85024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204433093 rs2271415 A C 1691.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.47;SOR=3.033;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.7813;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.8098;1000g2015aug_all=0.548922;esp6500siv2_all=0.6620;ExAC_ALL=0.7149;ExAC_AFR=0.3409;ExAC_AMR=0.7972;ExAC_EAS=0.3890;ExAC_FIN=0.7807;ExAC_NFE=0.8059;ExAC_OTH=0.7124;ExAC_SAS=0.6673;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1720,141,0 1 204434277 rs2942149 T C 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2942149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9918;1000g2015aug_eur=0.997;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.9827;1000g2015aug_all=0.915535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 204436520 rs2942150 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2942150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8185;1000g2015aug_sas=0.9417;1000g2015aug_eur=0.9901;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.9438;1000g2015aug_all=0.88119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204437759 rs2942151 C G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424712.6,ENST00000367187.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2942151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.9192;1000g2015aug_eur=0.9901;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.9438;1000g2015aug_all=0.896565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 204438334 rs1124777 C T 3178.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=0.734;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=exonic;Gene=NM_002646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIK3C2B:NM_002646:exon3:c.G597A:p.P199P;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1124777;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.91;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.8948;1000g2015aug_all=0.728035;esp6500siv2_all=0.7767;ExAC_ALL=0.8916;ExAC_AFR=0.3455;ExAC_AMR=0.8556;ExAC_EAS=0.7845;ExAC_FIN=0.9645;ExAC_NFE=0.9825;ExAC_OTH=0.9224;ExAC_SAS=0.9182;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3207,293,0 1 204438643 rs1553921 G T 4602.77 PASS AC=2;AF=1;AN=2;DP=143;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=exonic;Gene=NM_002646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIK3C2B:NM_002646:exon3:c.C288A:p.L96L;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1553921;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.911;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.2368;1000g2015aug_amr=0.8963;1000g2015aug_all=0.727236;esp6500siv2_all=0.7763;ExAC_ALL=0.8903;ExAC_AFR=0.3432;ExAC_AMR=0.8552;ExAC_EAS=0.7835;ExAC_FIN=0.9645;ExAC_NFE=0.9825;ExAC_OTH=0.9226;ExAC_SAS=0.9148;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,143:143:99:4631,427,0 1 204449952 rs7519417 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIK3C2B;Func=intronic;Gene=NM_002646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367187.7,ENST00000424712.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7519417;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7331;1000g2015aug_sas=0.6564;1000g2015aug_eur=0.7316;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.647;1000g2015aug_all=0.603035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204461622 rs6594015 C T 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002646,NM_001278517;GeneDetail=dist\x3e2148\x3bdist\x3e23885;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6594015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.6484;1000g2015aug_all=0.605032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 204494283 rs3789052 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614459.4,ENST00000612738.4,ENST00000367182.7,ENST00000391947.6,ENST00000454264.6,ENST00000616250.4,ENST00000621032.4,ENST00000367183.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.5072;1000g2015aug_all=0.307308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 204495253 rs4252677 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367182.7,ENST00000391947.6,ENST00000612738.4,ENST00000614459.4,ENST00000367180.5,ENST00000621032.4,ENST00000616250.4,ENST00000367183.7,ENST00000507825.3,ENST00000454264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1928\x3bName\x3e"361174:AluJb(SINE)";avsnp150=rs4252677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.6095;1000g2015aug_all=0.534744;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 204497913 rs2169137 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367180.5,ENST00000612738.4,ENST00000614459.4,ENST00000391947.6,ENST00000367182.7,ENST00000454264.6,ENST00000367183.7,ENST00000507825.3,ENST00000616250.4,ENST00000621032.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2169137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.7965;1000g2015aug_amr=0.7161;1000g2015aug_all=0.79353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204506107 rs4245738 C T 610.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391947.6,ENST00000367182.7,ENST00000367180.5,ENST00000614459.4,ENST00000612738.4,ENST00000367183.7,ENST00000507825.3,ENST00000616250.4,ENST00000621032.4,ENST00000454264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4245738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.6022;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.6167;1000g2015aug_all=0.551518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:639,63,0 1 204512100 rs4252717 T C 1481.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=2.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391947.6,ENST00000367182.7,ENST00000612738.4,ENST00000614459.4,ENST00000367183.7,ENST00000507825.3,ENST00000616250.4,ENST00000621032.4,ENST00000454264.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4252717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5961;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.6095;1000g2015aug_all=0.535144;esp6500siv2_all=0.5415;ExAC_ALL=0.6420;ExAC_AFR=0.2769;ExAC_AMR=0.6242;ExAC_EAS=0.6838;ExAC_FIN=0.7902;ExAC_NFE=0.6907;ExAC_OTH=0.6726;ExAC_SAS=0.6016;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1510,131,0 1 204512195 rs4252718 A T 346.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.47;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000454264.6,ENST00000621032.4,ENST00000616250.4,ENST00000367183.7,ENST00000507825.3,ENST00000612738.4,ENST00000614459.4,ENST00000367182.7,ENST00000391947.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e417\x3bName\x3e"361201:L2b(LINE)";avsnp150=rs4252718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.205;1000g2015aug_amr=0.6023;1000g2015aug_all=0.53155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:375,27,0 1 204515863 rs2290855 C T 271.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000621032.4,ENST00000616250.4,ENST00000367183.7,ENST00000507825.3,ENST00000454264.6,ENST00000367182.7,ENST00000391947.6,ENST00000612738.4,ENST00000614459.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2290855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.6095;1000g2015aug_all=0.536741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:300,24,0 1 204516025 rs2290854 A G 1270.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=intronic;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000616250.4,ENST00000621032.4,ENST00000367183.7,ENST00000454264.6,ENST00000367182.7,ENST00000391947.6,ENST00000612738.4,ENST00000614459.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2290854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBreast_Cancer_in_BRCA1_mutation_carriers;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.6012;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.2156;1000g2015aug_amr=0.611;1000g2015aug_all=0.539337;esp6500siv2_all=0.5536;ExAC_ALL=0.6451;ExAC_AFR=0.2813;ExAC_AMR=0.6279;ExAC_EAS=0.6842;ExAC_FIN=0.7914;ExAC_NFE=0.6961;ExAC_OTH=0.6718;ExAC_SAS=0.6003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1299,126,0 1 204518842 rs4245739 C A 978.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=2.226;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMDM4;Func=UTR3;Gene=NM_001204171,NM_001204172,NM_001278516,NM_001278517,NM_001278518,NM_001278519,NM_002393;GeneDetail=NM_001204171:c.*32C>A\x3bNM_001204172:c.*32C>A\x3bNM_001278516:c.*1014C>A\x3bNM_001278517:c.*32C>A\x3bNM_001278518:c.*675C>A\x3bNM_001278519:c.*32C>A\x3bNM_002393:c.*32C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367183.7,ENST00000621032.4,ENST00000616250.4,ENST00000454264.6,ENST00000391947.6,ENST00000367182.7,ENST00000612738.4,ENST00000614459.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4245739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBreast_cancer,Breast_cancer_(estrogen-receptor_negative,_progesterone-receptor_negative,_and_human_epidermal_growth_factor-receptor_negative),Prostate_cancer;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.7685;1000g2015aug_amr=0.7147;1000g2015aug_all=0.785942;esp6500siv2_all=0.7678;ExAC_ALL=0.7694;ExAC_AFR=0.7750;ExAC_AMR=0.7656;ExAC_EAS=0.9673;ExAC_FIN=0.8468;ExAC_NFE=0.7378;ExAC_OTH=0.7708;ExAC_SAS=0.7415;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:1007,87,0 1 204547268 rs11240760 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001278517,NM_006338;GeneDetail=dist\x3e20020\x3bdist\x3e39033;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e418\x3bName\x3e"361291:MIRb(SINE)";avsnp150=rs11240760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.6918;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.6095;1000g2015aug_all=0.538538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204556958 rs12566957 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001278517,NM_006338;GeneDetail=dist\x3e29710\x3bdist\x3e29343;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e464\x3bName\x3e"361318:L2b(LINE)";avsnp150=rs12566957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.1392;1000g2015aug_amr=0.5793;1000g2015aug_all=0.499401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 204586805 rs3789046 G A 522.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRN2;Func=UTR3;Gene=NM_006338,NM_201630;GeneDetail=NM_006338:c.*174C>T\x3bNM_201630:c.*174C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367176.7,ENST00000367175.1,ENST00000367177.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3789046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3373;1000g2015aug_sas=0.316;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.5029;1000g2015aug_all=0.298522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:551,42,0 1 204587240 rs3747632 G A 3500.77 PASS AC=2;AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=0.712;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRN2;Func=exonic;Gene=NM_006338,NM_201630;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LRRN2:NM_201630:exon2:c.C1881T:p.D627D,LRRN2:NM_006338:exon3:c.C1881T:p.D627D;Gencode=Name\x3eENST00000367176.7,ENST00000367177.3,ENST00000367175.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3747632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.317;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.5014;1000g2015aug_all=0.294129;esp6500siv2_all=0.3314;ExAC_ALL=0.4092;ExAC_AFR=0.0886;ExAC_AMR=0.5315;ExAC_EAS=0.3044;ExAC_FIN=0.5336;ExAC_NFE=0.4585;ExAC_OTH=0.4231;ExAC_SAS=0.3329;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,107:107:99:3529,321,0 1 204602874 rs2887430 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRN2;Func=intronic;Gene=NM_006338,NM_201630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367177.3,ENST00000367176.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2887430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.8086;1000g2015aug_amr=0.7334;1000g2015aug_all=0.807907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204633500 rs1610401 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLRRN2;Func=intronic;Gene=NM_006338,NM_201630;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367177.3,ENST00000435021.1,ENST00000367176.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1610401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.9597;1000g2015aug_all=0.902556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 204913652 rs2595961 A G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.645;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000403080.5,ENST00000360049.8,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2595961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.682;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8048;1000g2015aug_amr=0.5994;1000g2015aug_all=0.685703;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:76,0,68 1 204915393 rs2595960 A G 967.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.235;DP=90;ExcessHet=3.0103;FS=2.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.588;SOR=1.078;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000403080.5,ENST00000513543.5,ENST00000401399.5,ENST00000404076.5,ENST00000539706.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e246\x3bName\x3e"362156:MIRb(SINE)";avsnp150=rs2595960;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.5937;1000g2015aug_all=0.665136;esp6500siv2_all=0.8210;ExAC_ALL=0.7522;ExAC_AFR=0.7462;ExAC_AMR=0.5288;ExAC_EAS=0.3945;ExAC_FIN=0.8220;ExAC_NFE=0.8453;ExAC_OTH=0.8246;ExAC_SAS=0.7029;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,40:90:99:996,0,1445 1 204915904 rs2449484 A G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.7;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000403080.5,ENST00000360049.8,ENST00000401399.5,ENST00000513543.5,ENST00000539706.5,ENST00000404076.5,ENST00000404907.5,ENST00000339876.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2449484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.733;1000g2015aug_amr=0.5951;1000g2015aug_all=0.665335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,136 1 204915920 rs2490418 T C 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-0.108;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000403080.5,ENST00000513543.5,ENST00000401399.5,ENST00000404907.5,ENST00000339876.10,ENST00000404076.5,ENST00000539706.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2490418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.8598;1000g2015aug_afr=0.8033;1000g2015aug_amr=0.6009;1000g2015aug_all=0.684704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,103 1 204921258 rs12141283 A G 1825.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.236;DP=156;ExcessHet=3.0103;FS=0.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.7;SOR=0.757;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339876.10,ENST00000404907.5,ENST00000539706.5,ENST00000404076.5,ENST00000401399.5,ENST00000513543.5,ENST00000403080.5,ENST00000360049.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0794;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.4493;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.2983;1000g2015aug_all=0.242412;esp6500siv2_all=0.3199;ExAC_ALL=0.3890;ExAC_AFR=0.1369;ExAC_AMR=0.3424;ExAC_EAS=0.0892;ExAC_FIN=0.4322;ExAC_NFE=0.4577;ExAC_OTH=0.4282;ExAC_SAS=0.4278;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,70:155:99:1854,0,2220 1 204943121 rs2802807 C T 107.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000360049.8,ENST00000403080.5,ENST00000404907.5,ENST00000339876.10,ENST00000404076.5,ENST00000539706.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.993;1000g2015aug_afr=0.708;1000g2015aug_amr=0.9755;1000g2015aug_all=0.915136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:135,12,0 1 204943285 rs2595945 A T 2575.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539706.5,ENST00000404076.5,ENST00000404907.5,ENST00000339876.10,ENST00000403080.5,ENST00000360049.8,ENST00000401399.5,ENST00000513543.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2595945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.993;1000g2015aug_afr=0.708;1000g2015aug_amr=0.9755;1000g2015aug_all=0.915136;esp6500siv2_all=0.9147;ExAC_ALL=0.9724;ExAC_AFR=0.7581;ExAC_AMR=0.9882;ExAC_EAS=0.9944;ExAC_FIN=0.9768;ExAC_NFE=0.9936;ExAC_OTH=0.9787;ExAC_SAS=0.9903;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2604,247,0 1 204943947 rs2246662 C A 1854.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.019;DP=142;ExcessHet=3.0103;FS=1.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.073;SOR=0.879;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=exonic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NFASC:NM_001160331:exon12:c.C1587A:p.V529V,NFASC:NM_001160333:exon13:c.C1536A:p.V512V,NFASC:NM_001005388:exon14:c.C1554A:p.V518V,NFASC:NM_001005389:exon14:c.C1554A:p.V518V,NFASC:NM_001160332:exon14:c.C1587A:p.V529V,NFASC:NM_015090:exon14:c.C1587A:p.V529V;Gencode=Name\x3eENST00000404076.5,ENST00000539706.5,ENST00000339876.10,ENST00000404907.5,ENST00000360049.8,ENST00000403080.5,ENST00000513543.5,ENST00000401399.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2246662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.4125;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.5403;1000g2015aug_all=0.467652;esp6500siv2_all=0.3303;ExAC_ALL=0.4538;ExAC_AFR=0.2109;ExAC_AMR=0.6170;ExAC_EAS=0.6795;ExAC_FIN=0.5089;ExAC_NFE=0.3974;ExAC_OTH=0.4868;ExAC_SAS=0.5787;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,73:141:99:1883,0,1853 1 204943991 rs2246661 C T 1482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.238;DP=106;ExcessHet=3.0103;FS=1.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.569;SOR=0.898;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401399.5,ENST00000513543.5,ENST00000360049.8,ENST00000403080.5,ENST00000404076.5,ENST00000539706.5,ENST00000404907.5,ENST00000339876.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2246661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6875;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.3374;1000g2015aug_amr=0.5605;1000g2015aug_all=0.511981;esp6500siv2_all=0.3072;ExAC_ALL=0.4675;ExAC_AFR=0.3351;ExAC_AMR=0.6264;ExAC_EAS=0.6946;ExAC_FIN=0.5094;ExAC_NFE=0.3990;ExAC_OTH=0.5;ExAC_SAS=0.5793;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:49,56:105:99:1511,0,1390 1 204943992 rs2794861 A G 4177.77 PASS AC=2;AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.36;SOR=1.848;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000403080.5,ENST00000360049.8,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.993;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.9813;1000g2015aug_all=0.927915;esp6500siv2_all=0.9266;ExAC_ALL=0.9746;ExAC_AFR=0.7911;ExAC_AMR=0.9904;ExAC_EAS=0.9948;ExAC_FIN=0.9776;ExAC_NFE=0.9936;ExAC_OTH=0.9790;ExAC_SAS=0.9905;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:4206,313,0 1 204945618 rs12124296 G A 1669.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.03;DP=120;ExcessHet=3.0103;FS=6.988;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.383;SOR=0.991;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401399.5,ENST00000513543.5,ENST00000360049.8,ENST00000403080.5,ENST00000339876.10,ENST00000404907.5,ENST00000404076.5,ENST00000539706.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12124296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2649;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.0424;1000g2015aug_amr=0.2219;1000g2015aug_all=0.213259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,63:120:99:1698,0,1510 1 204949767 rs2278798 T C 221.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-0.763;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404907.5,ENST00000339876.10,ENST00000539706.5,ENST00000404076.5,ENST00000513543.5,ENST00000401399.5,ENST00000360049.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2278798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.2997;1000g2015aug_all=0.358027;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:250,0,209 1 204950709 rs2841631 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404907.5,ENST00000339876.10,ENST00000404076.5,ENST00000539706.5,ENST00000513543.5,ENST00000401399.5,ENST00000360049.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2841631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 204951209 rs2278796 C T 1869.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.24;DP=146;ExcessHet=3.0103;FS=2.275;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.286;SOR=0.511;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2278796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2798;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.3042;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2205;1000g2015aug_all=0.215256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,71:146:99:1898,0,2172 1 204952849 rs4951150 C A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.431;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404076.5,ENST00000539706.5,ENST00000339876.10,ENST00000404907.5,ENST00000360049.8,ENST00000513543.5,ENST00000401399.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1085\x3bName\x3e"362199:LTR33(LTR)";avsnp150=rs4951150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3608;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.2608;1000g2015aug_all=0.295727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 204954993 rs2278795 A G 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.623;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.49;ReadPosRankSum=-0.26;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000339876.10,ENST00000404907.5,ENST00000539706.5,ENST00000404076.5,ENST00000360049.8,ENST00000401399.5,ENST00000513543.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2278795;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2996;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.3837;1000g2015aug_afr=0.4637;1000g2015aug_amr=0.2983;1000g2015aug_all=0.374201;esp6500siv2_all=0.4279;ExAC_ALL=0.4179;ExAC_AFR=0.4873;ExAC_AMR=0.3258;ExAC_EAS=0.3277;ExAC_FIN=0.3484;ExAC_NFE=0.4381;ExAC_OTH=0.4033;ExAC_SAS=0.4044;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,19:26:99:613,0,214 1 204955319 rs11240324 G A 858.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.762;DP=48;ExcessHet=3.0103;FS=1.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.114;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401399.5,ENST00000513543.5,ENST00000360049.8,ENST00000339876.10,ENST00000404907.5,ENST00000539706.5,ENST00000404076.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3405;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2493;1000g2015aug_all=0.246805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,23:48:99:887,0,1401 1 204955329 rs11240325 A G 838.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.13;DP=41;ExcessHet=3.0103;FS=1.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=-2.224;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000360049.8,ENST00000404076.5,ENST00000539706.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240325;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.3221;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2493;1000g2015aug_all=0.247204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,22:41:99:867,0,1225 1 204955416 rs11240326 G A 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.663;DP=16;ExcessHet=3.0103;FS=5.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.42;ReadPosRankSum=0.057;SOR=0.042;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000360049.8,ENST00000404076.5,ENST00000539706.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.2493;1000g2015aug_all=0.246605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:115,0,409 1 204956325 rs2290138 G C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000401399.5,ENST00000513543.5,ENST00000404076.5,ENST00000539706.5,ENST00000404907.5,ENST00000339876.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2290138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2827;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.2493;1000g2015aug_all=0.24401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 204962662 rs2841629 A G 119.79 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.96;ReadPosRankSum=0.253;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000404907.5,ENST00000339876.10,ENST00000539706.5,ENST00000404076.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2841629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.4164;1000g2015aug_all=0.45647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:22:148,0,22 1 204962718 rs2841628 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000404076.5,ENST00000539706.5,ENST00000404907.5,ENST00000339876.10,ENST00000360049.8,ENST00000401399.5,ENST00000513543.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2841628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9932;1000g2015aug_amr=1;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 204966170 rs16854920 T C 138.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.819;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16854920;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.353;1000g2015aug_all=0.284345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,334 1 204966428 rs2802808 C G 751.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.173;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.265;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=exonic;Gene=NM_001005388;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NFASC:NM_001005388:exon25:c.C2913G:p.I971M;Gencode=Name\x3eENST00000401399.5,ENST00000513543.5,ENST00000360049.8,ENST00000539706.5,ENST00000404076.5,ENST00000404907.5,ENST00000339876.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e29\x3bName\x3e"362211:(CAC)n(Simple_repeat)";avsnp150=rs2802808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.208;1000g2015aug_amr=0.2867;1000g2015aug_all=0.310503;esp6500siv2_all=0.2630;ExAC_ALL=0.3431;ExAC_AFR=0.2480;ExAC_AMR=0.3547;ExAC_EAS=0.4864;ExAC_FIN=0.3463;ExAC_NFE=0.3360;ExAC_OTH=0.3134;ExAC_SAS=0.3476;SIFT_score=0.232;SIFT_pred=T;Polyphen2_HDIV_score=0.223;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.027;Polyphen2_HVAR_pred=B;LRT_score=0.265;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=-0.09;FATHMM_pred=T;phyloP100way_vertebrate=-0.189;phyloP20way_mammalian=-0.431;SiPhy_29way_logOdds=5.086;gerp++gt2=.;CADD=1.870;CADD_Phred=15.40;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,29:66:99:780,0,957 1 204966690 rs2794858 G A 1703.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000404907.5,ENST00000339876.10,ENST00000539706.5,ENST00000404076.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.9726;1000g2015aug_all=0.901158;esp6500siv2_all=.;ExAC_ALL=0.9502;ExAC_AFR=0.7289;ExAC_AMR=0.9638;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9716;ExAC_OTH=0.9625;ExAC_SAS=0.9923;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1732,144,0 1 204966749 rs2595944 A G 904.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000404907.5,ENST00000339876.10,ENST00000539706.5,ENST00000404076.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2595944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9345;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.8617;1000g2015aug_all=0.860823;esp6500siv2_all=.;ExAC_ALL=0.8364;ExAC_AFR=0.8263;ExAC_AMR=0.8454;ExAC_EAS=0.9145;ExAC_FIN=0.9;ExAC_NFE=0.8106;ExAC_OTH=0.95;ExAC_SAS=0.9430;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:933,78,0 1 204970243 rs4950976 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.094;DP=26;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=-1.167;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5,ENST00000513543.5,ENST00000401399.5,ENST00000360049.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.1293;1000g2015aug_amr=0.183;1000g2015aug_all=0.225839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,8:26:99:188,0,525 1 204970302 rs4951151 T C 399.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.025;DP=46;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.068;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=exonic;Gene=NM_001005388;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NFASC:NM_001005388:exon26:c.T3024C:p.P1008P;Gencode=Name\x3eENST00000513543.5,ENST00000401399.5,ENST00000360049.8,ENST00000404907.5,ENST00000339876.10,ENST00000539706.5,ENST00000404076.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951151;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2575;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.1787;1000g2015aug_all=0.230631;esp6500siv2_all=0.2262;ExAC_ALL=0.3078;ExAC_AFR=0.2297;ExAC_AMR=0.2831;ExAC_EAS=0.2989;ExAC_FIN=0.3140;ExAC_NFE=0.3115;ExAC_OTH=0.2914;ExAC_SAS=0.3490;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,18:46:99:428,0,746 1 204970495 rs4951152 C A 496.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.231;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-0.7;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951152;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.183;1000g2015aug_all=0.216454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,18:30:99:525,0,365 1 204971553 rs6661381 A G 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.304;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.489;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000401399.5,ENST00000513543.5,ENST00000539706.5,ENST00000404076.5,ENST00000404907.5,ENST00000339876.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.2744;1000g2015aug_afr=0.1392;1000g2015aug_amr=0.183;1000g2015aug_all=0.237819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:161,0,254 1 204978533 rs1530745 A G 1084.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000401399.5,ENST00000513543.5,ENST00000339876.10,ENST00000404907.5,ENST00000404076.5,ENST00000539706.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1530745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.7883;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.549;1000g2015aug_all=0.647564;esp6500siv2_all=0.7250;ExAC_ALL=0.6972;ExAC_AFR=0.7067;ExAC_AMR=0.5268;ExAC_EAS=0.4710;ExAC_FIN=0.7890;ExAC_NFE=0.7248;ExAC_OTH=0.7109;ExAC_SAS=0.7687;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1113,102,0 1 204978643 rs1530744 C A 721.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.739;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.098;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401399.5,ENST00000513543.5,ENST00000360049.8,ENST00000339876.10,ENST00000404907.5,ENST00000404076.5,ENST00000539706.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1530744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.2666;1000g2015aug_all=0.228435;esp6500siv2_all=0.3468;ExAC_ALL=0.3582;ExAC_AFR=0.0813;ExAC_AMR=0.1842;ExAC_EAS=0.1690;ExAC_FIN=0.4424;ExAC_NFE=0.4621;ExAC_OTH=0.3617;ExAC_SAS=0.3003;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,36:71:99:750,0,835 1 204985226 rs868449 A C 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.366;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=intronic;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360049.8,ENST00000513543.5,ENST00000401399.5,ENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e341\x3bName\x3e"362230:MIR3(SINE)";avsnp150=rs868449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.256;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.5;1000g2015aug_afr=0.0537;1000g2015aug_amr=0.3141;1000g2015aug_all=0.264377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:66:66,0,224 1 204986586 rs2595966 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNFASC;Func=UTR3;Gene=NM_001005388,NM_001160331,NM_001160332,NM_015090;GeneDetail=NM_001005388:c.*919T>C\x3bNM_001160331:c.*919T>C\x3bNM_001160332:c.*919T>C\x3bNM_015090:c.*919T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539706.5,ENST00000404076.5,ENST00000339876.10,ENST00000404907.5,ENST00000360049.8,ENST00000401399.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2595966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9732;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9726;1000g2015aug_all=0.967252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 205028581 rs2305278 C G 402.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.041;DP=40;ExcessHet=3.0103;FS=4.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.287;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.093;1000g2015aug_amr=0.2637;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,17:40:99:431,0,806 1 205028915 rs10793725 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e187\x3bName\x3e"362320:L2a(LINE)";avsnp150=rs10793725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0526;1000g2015aug_sas=0.1656;1000g2015aug_eur=0.505;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.2954;1000g2015aug_all=0.216653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 205030862 rs41264869 C T 225.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.835;DP=22;ExcessHet=3.0103;FS=6.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.704;SOR=2.655;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.2622;1000g2015aug_all=0.23123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:254,0,375 1 205031116 rs2229866 C T 829.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.926;DP=71;ExcessHet=3.0103;FS=4.611;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.121;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=exonic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CNTN2:NM_001346083:exon9:c.C1097T:p.P366L,CNTN2:NM_005076:exon9:c.C1097T:p.P366L;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.339;1000g2015aug_afr=0.323;1000g2015aug_amr=0.5591;1000g2015aug_all=0.551118;esp6500siv2_all=0.3411;ExAC_ALL=0.4754;ExAC_AFR=0.3442;ExAC_AMR=0.6292;ExAC_EAS=0.8797;ExAC_FIN=0.3891;ExAC_NFE=0.3622;ExAC_OTH=0.4527;ExAC_SAS=0.6963;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.023;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;phyloP100way_vertebrate=4.731;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=17.744;gerp++gt2=4.94;CADD=3.961;CADD_Phred=23.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,33:71:99:858,0,1089 1 205031449 rs7545698 A G 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000515887.1,ENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 205031744 rs2242001 G A 1838.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.586;DP=132;ExcessHet=3.0103;FS=0.638;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.851;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242001;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.2651;1000g2015aug_all=0.232029;esp6500siv2_all=0.1526;ExAC_ALL=0.2071;ExAC_AFR=0.1089;ExAC_AMR=0.2846;ExAC_EAS=0.4034;ExAC_FIN=0.1692;ExAC_NFE=0.1706;ExAC_OTH=0.1851;ExAC_SAS=0.2834;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,70:132:99:1867,0,1564 1 205031769 rs2242000 G A 1781.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.248;DP=124;ExcessHet=3.0103;FS=0.669;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.287;SOR=0.775;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2242000;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3958;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0946;1000g2015aug_amr=0.2651;1000g2015aug_all=0.232029;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:55,69:124:99:1810,0,1339 1 205033283 rs1470637 G A 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.998;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.26;SOR=0.055;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e644\x3bName\x3e"362330:L2a(LINE)";avsnp150=rs1470637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9454;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.3519;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.5865;1000g2015aug_all=0.60623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,203 1 205033374 rs2305277 T C 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.258;DP=47;ExcessHet=3.0103;FS=2.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.28;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.339;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.5591;1000g2015aug_all=0.557109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,20:47:99:524,0,736 1 205034488 rs4460698 A G 842.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.654;DP=51;ExcessHet=3.0103;FS=3.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.866;SOR=1.372;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4460698;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.5144;1000g2015aug_all=0.444688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,29:51:99:871,0,589 1 205034723 rs11588412 C T 193.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=0.241;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11588412;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.5375;1000g2015aug_all=0.488618;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:222,0,98 1 205035455 rs16937 A G 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.609;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.53;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.6196;1000g2015aug_all=0.582867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:326,0,314 1 205038731 rs2305275 C T 1332.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2305275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.6063;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.6167;1000g2015aug_all=0.579473;esp6500siv2_all=0.6445;ExAC_ALL=0.6556;ExAC_AFR=0.5379;ExAC_AMR=0.6006;ExAC_EAS=0.4979;ExAC_FIN=0.7541;ExAC_NFE=0.7056;ExAC_OTH=0.6256;ExAC_SAS=0.6099;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1361,132,0 1 205039288 rs12134724 T C 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.089;DP=43;ExcessHet=3.0103;FS=3.405;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.231;SOR=1.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1442;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.2464;1000g2015aug_all=0.158546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,21:43:99:634,0,849 1 205039295 rs56283998 A C 545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.51;DP=36;ExcessHet=3.0103;FS=6.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.872;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56283998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3829;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.2781;1000g2015aug_all=0.252196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,19:36:99:574,0,756 1 205040835 rs3820338 A G 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.55;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.8818;1000g2015aug_all=0.804313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 205040943 rs12117194 C G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.029;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.993;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12117194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.3343;1000g2015aug_amr=0.3386;1000g2015aug_all=0.329673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:331,0,396 1 205041015 rs11240349 G A 665.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.478;DP=46;ExcessHet=3.0103;FS=2.678;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.233;SOR=0.327;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.2738;1000g2015aug_all=0.186901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,26:46:99:694,0,580 1 205041465 rs6662930 T C 111.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.253;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.524;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6662930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.1104;1000g2015aug_amr=0.2795;1000g2015aug_all=0.198682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:140,0,27 1 205041542 rs3903399 T C 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.308;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.25;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3903399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4335;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.146;1000g2015aug_amr=0.3055;1000g2015aug_all=0.269369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,8:26:99:223,0,479 1 205041952 rs6696846 C T 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-0.511;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.126;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.3098;1000g2015aug_all=0.244209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 205042115 rs56338794 C T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.803;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.627;SOR=1.071;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56338794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0445288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,9:24:99:249,0,555 1 205042583 rs1002926 C T 398.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.268;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.29;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=intronic;Gene=NM_001346083,NM_005076;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"362343:G-rich(Low_complexity)";avsnp150=rs1002926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.2767;1000g2015aug_all=0.238019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:427,0,388 1 205042939 rs17416088 C T 597.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.122;DP=36;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.667;SOR=0.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNTN2;Func=UTR3;Gene=NM_001346083,NM_005076;GeneDetail=NM_001346083:c.*46C>T\x3bNM_005076:c.*46C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000331830.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17416088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.166;1000g2015aug_afr=0.2837;1000g2015aug_amr=0.0994;1000g2015aug_all=0.165136;esp6500siv2_all=0.1878;ExAC_ALL=0.1642;ExAC_AFR=0.2697;ExAC_AMR=0.0738;ExAC_EAS=0.0055;ExAC_FIN=0.2306;ExAC_NFE=0.1656;ExAC_OTH=0.1571;ExAC_SAS=0.2024;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,20:35:99:626,0,486 1 205052939 rs4950979 G A 1862.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.094;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM81;Func=exonic;Gene=NM_203376;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMEM81:NM_203376:exon1:c.C510T:p.L170L;Gencode=Name\x3eENST00000367167.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950979;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.84;1000g2015aug_afr=0.5008;1000g2015aug_amr=0.8718;1000g2015aug_all=0.798722;esp6500siv2_all=0.7573;ExAC_ALL=0.8548;ExAC_AFR=0.5549;ExAC_AMR=0.9220;ExAC_EAS=0.9711;ExAC_FIN=0.8857;ExAC_NFE=0.8593;ExAC_OTH=0.8315;ExAC_SAS=0.9062;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1891,153,0 1 205053219 rs4951168 C T 3463.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM81;Func=exonic;Gene=NM_203376;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TMEM81:NM_203376:exon1:c.G230A:p.R77Q;Gencode=Name\x3eENST00000367167.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951168;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.5545;1000g2015aug_amr=0.889;1000g2015aug_all=0.817292;esp6500siv2_all=0.7751;ExAC_ALL=0.8644;ExAC_AFR=0.5934;ExAC_AMR=0.9304;ExAC_EAS=0.9711;ExAC_FIN=0.8923;ExAC_NFE=0.8674;ExAC_OTH=0.8458;ExAC_SAS=0.9104;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.87;MutationAssessor_pred=N;FATHMM_score=1.45;FATHMM_pred=T;phyloP100way_vertebrate=0.254;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=6.989;gerp++gt2=5.5;CADD=2.606;CADD_Phred=20.2;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3492,297,0 1 205063949 rs3738154 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.191;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=1.261;SOR=0.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738154;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.228;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.2752;1000g2015aug_all=0.285543;esp6500siv2_all=0.4118;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:143,0,219 1 205065733 rs11577406 G T 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.191;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.451;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.1097;1000g2015aug_amr=0.2594;1000g2015aug_all=0.182308;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:315,0,593 1 205066611 rs151016156 C A 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.409;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.374;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264515.10,ENST00000367164.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs151016156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,14:30:99:392,0,442 1 205070573 rs11240358 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264515.10,ENST00000367164.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9107;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.5893;1000g2015aug_all=0.515176;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 205074018 rs6683762 T C 482.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6683762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.5605;1000g2015aug_amr=0.889;1000g2015aug_all=0.819289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:511,36,0 1 205074019 rs6692170 G A 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=1.96;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6692170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.3026;1000g2015aug_all=0.309704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,340 1 205074424 rs3738155 C T 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.52;ReadPosRankSum=1.144;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264515.10,ENST00000367164.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.0673;1000g2015aug_amr=0.2579;1000g2015aug_all=0.167332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:295,0,170 1 205083865 rs11240360 T C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.66;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.008;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264515.10,ENST00000367164.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2565;1000g2015aug_all=0.166933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,267 1 205084120 rs7515178 G A 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.052;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.544;SOR=1.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515178;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.2997;1000g2015aug_all=0.304113;esp6500siv2_all=0.4347;ExAC_ALL=0.4175;ExAC_AFR=0.4365;ExAC_AMR=0.3200;ExAC_EAS=0.0782;ExAC_FIN=0.5850;ExAC_NFE=0.5070;ExAC_OTH=0.3852;ExAC_SAS=0.2848;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,7:18:99:193,0,323 1 205085358 rs12025836 T C 366.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=25;ExcessHet=3.0103;FS=1.697;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.986;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1639\x3bName\x3e"362428:Charlie1b(DNA)";avsnp150=rs12025836;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.2802;1000g2015aug_eur=0.1948;1000g2015aug_afr=0.118;1000g2015aug_amr=0.2767;1000g2015aug_all=0.242612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:395,0,292 1 205090885 rs61822619 C G 546.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.264;DP=66;ExcessHet=3.0103;FS=2.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.76;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBBP5;Func=intronic;Gene=NM_001193272,NM_001193273,NM_005057;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367164.1,ENST00000264515.10;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61822619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.0666;1000g2015aug_amr=0.2565;1000g2015aug_all=0.166933;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,23:66:99:575,0,1223 1 205129319 rs1062715 G A 508.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.972;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.887;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDSTYK;Func=exonic;Gene=NM_015375,NM_199462;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DSTYK:NM_015375:exon8:c.C2028T:p.F676F,DSTYK:NM_199462:exon8:c.C2028T:p.F676F;Gencode=Name\x3eENST00000367161.7,ENST00000367162.7,ENST00000615388.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1062715;cosmic70=.;CLNALLELEID=249674;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.2565;1000g2015aug_afr=0.4175;1000g2015aug_amr=0.3184;1000g2015aug_all=0.371406;esp6500siv2_all=0.2856;ExAC_ALL=0.3010;ExAC_AFR=0.3810;ExAC_AMR=0.3472;ExAC_EAS=0.4131;ExAC_FIN=0.3119;ExAC_NFE=0.2374;ExAC_OTH=0.2841;ExAC_SAS=0.4132;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,21:34:99:537,0,339 1 205130413 rs3851294 A G 1556.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=0.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDSTYK;Func=exonic;Gene=NM_015375,NM_199462;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DSTYK:NM_015375:exon7:c.T1921C:p.C641R,DSTYK:NM_199462:exon7:c.T1921C:p.C641R;Gencode=Name\x3eENST00000367161.7,ENST00000615388.1,ENST00000367162.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3851294;cosmic70=.;CLNALLELEID=249675;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9424;1000g2015aug_all=0.961062;esp6500siv2_all=0.9302;ExAC_ALL=0.9317;ExAC_AFR=0.9850;ExAC_AMR=0.9681;ExAC_EAS=1;ExAC_FIN=0.9253;ExAC_NFE=0.9050;ExAC_OTH=0.9042;ExAC_SAS=0.9485;SIFT_score=0.569;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.138;MutationTaster_pred=P;MutationAssessor_score=-1.39;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_pred=T;phyloP100way_vertebrate=4.273;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=7.453;gerp++gt2=5.27;CADD=2.397;CADD_Phred=18.80;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1585,153,0 1 205133169 rs61822658 T C 695.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.01;DP=55;ExcessHet=3.0103;FS=1.146;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.884;SOR=0.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDSTYK;Func=intronic;Gene=NM_015375,NM_199462;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367161.7,ENST00000367162.7,ENST00000615388.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61822658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0445288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,27:55:99:724,0,750 1 205157100 rs10900464 T C 115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.113;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDSTYK;Func=intronic;Gene=NM_015375,NM_199462;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367161.7,ENST00000367162.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10900464;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4891;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.5317;1000g2015aug_all=0.389776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:144,0,179 1 205157108 rs6593929 A G 360.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDSTYK;Func=intronic;Gene=NM_015375,NM_199462;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367162.7,ENST00000367161.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6593929;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9762;1000g2015aug_sas=0.9254;1000g2015aug_eur=0.8678;1000g2015aug_afr=0.534;1000g2015aug_amr=0.8804;1000g2015aug_all=0.814497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:389,27,0 1 205216110 rs17417252 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17417252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4097;1000g2015aug_sas=0.454;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.2421;1000g2015aug_amr=0.3256;1000g2015aug_all=0.336861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 205225457 rs1172147 G A 814.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.166;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.187;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=UTR5;Gene=NM_001297613;GeneDetail=NM_001297613:c.-61G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000329800.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1172147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.2176;1000g2015aug_all=0.161741;esp6500siv2_all=.;ExAC_ALL=0.2482;ExAC_AFR=0.1624;ExAC_AMR=0.1824;ExAC_EAS=0.0473;ExAC_FIN=0.4213;ExAC_NFE=0.3855;ExAC_OTH=0.2810;ExAC_SAS=0.1320;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.115;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.163;phyloP20way_mammalian=-0.201;SiPhy_29way_logOdds=2.704;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,29:66:99:843,0,1142 1 205225893 rs61823978 C T 89.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-0.524;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000329800.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61823978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.1879;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0994;1000g2015aug_all=0.0794728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:118,0,27 1 205238275 rs1768586 A G 1820.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.079;DP=163;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.101;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=exonic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMCC2:NM_001297611:exon2:c.A270G:p.A90A,TMCC2:NM_001297613:exon2:c.A225G:p.A75A,TMCC2:NM_001331034:exon2:c.A360G:p.A120A,TMCC2:NM_001242925:exon3:c.A711G:p.A237A,TMCC2:NM_014858:exon3:c.A945G:p.A315A;Gencode=Name\x3eENST00000329800.7,ENST00000545499.5,ENST00000330675.11,ENST00000358024.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.1902;1000g2015aug_all=0.14976;esp6500siv2_all=0.2849;ExAC_ALL=0.2718;ExAC_AFR=0.1358;ExAC_AMR=0.1737;ExAC_EAS=0.0463;ExAC_FIN=0.4137;ExAC_NFE=0.3666;ExAC_OTH=0.2629;ExAC_SAS=0.1057;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:89,73:162:99:1849,0,2491 1 205238530 rs1779411 C T 1000.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.114;DP=74;ExcessHet=3.0103;FS=2.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.076;SOR=1.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=exonic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMCC2:NM_001297611:exon2:c.C525T:p.G175G,TMCC2:NM_001297613:exon2:c.C480T:p.G160G,TMCC2:NM_001331034:exon2:c.C615T:p.G205G,TMCC2:NM_001242925:exon3:c.C966T:p.G322G,TMCC2:NM_014858:exon3:c.C1200T:p.G400G;Gencode=Name\x3eENST00000330675.11,ENST00000329800.7,ENST00000545499.5,ENST00000358024.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1779411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.1816;1000g2015aug_all=0.125799;esp6500siv2_all=0.2586;ExAC_ALL=0.2671;ExAC_AFR=0.0673;ExAC_AMR=0.1717;ExAC_EAS=0.0418;ExAC_FIN=0.4151;ExAC_NFE=0.3691;ExAC_OTH=0.2744;ExAC_SAS=0.1042;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,33:74:99:1029,0,1248 1 205239031 rs1668870 C G 869.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=60;ExcessHet=3.0103;FS=2.71;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.562;SOR=0.343;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000329800.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1668870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.031;1000g2015aug_amr=0.183;1000g2015aug_all=0.126398;esp6500siv2_all=0.2557;ExAC_ALL=0.2712;ExAC_AFR=0.0681;ExAC_AMR=0.1725;ExAC_EAS=0.0418;ExAC_FIN=0.4141;ExAC_NFE=0.3707;ExAC_OTH=0.2794;ExAC_SAS=0.1113;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,31:60:99:898,0,850 1 205239121 rs1768585 C G 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.611;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000329800.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.792;1000g2015aug_amr=0.5865;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,289 1 205240141 rs1668868 G T 621.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.43;DP=67;ExcessHet=3.0103;FS=2.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.264;SOR=1.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000330675.11,ENST00000545499.5,ENST00000329800.7,ENST00000358024.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1668868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.556;1000g2015aug_amr=0.2507;1000g2015aug_all=0.326877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,19:67:99:650,0,3037 1 205240145 rs1768584 A G 618.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.107;DP=69;ExcessHet=3.0103;FS=3.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.605;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545499.5,ENST00000329800.7,ENST00000330675.11,ENST00000358024.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768584;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.2176;1000g2015aug_all=0.184505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,19:69:99:647,0,3059 1 205240251 rs1668867 C T 1248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.616;DP=102;ExcessHet=3.0103;FS=7.863;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.013;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=exonic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TMCC2:NM_001297611:exon3:c.C1011T:p.Y337Y,TMCC2:NM_001297613:exon3:c.C966T:p.Y322Y,TMCC2:NM_001331034:exon3:c.C1101T:p.Y367Y,TMCC2:NM_001242925:exon4:c.C1452T:p.Y484Y,TMCC2:NM_014858:exon4:c.C1686T:p.Y562Y;Gencode=Name\x3eENST00000358024.7,ENST00000329800.7,ENST00000545499.5,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1668867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.1931;1000g2015aug_all=0.161941;esp6500siv2_all=0.2976;ExAC_ALL=0.2759;ExAC_AFR=0.1770;ExAC_AMR=0.1765;ExAC_EAS=0.0463;ExAC_FIN=0.4143;ExAC_NFE=0.3669;ExAC_OTH=0.2673;ExAC_SAS=0.1060;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,48:102:99:1277,0,1618 1 205240913 rs9659978 A G 658.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMCC2;Func=intronic;Gene=NM_001242925,NM_001297611,NM_001297613,NM_001331034,NM_014858;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358024.7,ENST00000545499.5,ENST00000329800.7,ENST00000330675.11;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9659978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.9947;1000g2015aug_amr=0.9424;1000g2015aug_all=0.961661;esp6500siv2_all=0.9312;ExAC_ALL=0.9327;ExAC_AFR=0.9858;ExAC_AMR=0.9689;ExAC_EAS=1;ExAC_FIN=0.9263;ExAC_NFE=0.9061;ExAC_OTH=0.9083;ExAC_SAS=0.9494;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:687,60,0 1 205268229 rs2032041 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014858,NM_030952;GeneDetail=dist\x3e25758\x3bdist\x3e2962;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2032041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9742;1000g2015aug_sas=0.998;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9856;1000g2015aug_all=0.949481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 205272347 rs41264875 C T 44.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=UTR3;Gene=NM_030952;GeneDetail=NM_030952:c.*231G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0327;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0425319;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:73,0,30 1 205272926 rs1106201 C T 792.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.402;DP=76;ExcessHet=3.0103;FS=0.863;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.51;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=exonic;Gene=NM_030952;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NUAK2:NM_030952:exon7:c.G1671A:p.L557L;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1106201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.415;1000g2015aug_all=0.323083;esp6500siv2_all=0.2502;ExAC_ALL=0.3383;ExAC_AFR=0.1581;ExAC_AMR=0.4631;ExAC_EAS=0.4829;ExAC_FIN=0.3328;ExAC_NFE=0.3075;ExAC_OTH=0.3293;ExAC_SAS=0.4333;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,32:76:99:821,0,1257 1 205272983 rs1106202 C G 875.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.609;DP=95;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.97;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=exonic;Gene=NM_030952;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NUAK2:NM_030952:exon7:c.G1614C:p.L538L;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1106202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.2952;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.4135;1000g2015aug_all=0.322484;esp6500siv2_all=0.2490;ExAC_ALL=0.3353;ExAC_AFR=0.1558;ExAC_AMR=0.4617;ExAC_EAS=0.4816;ExAC_FIN=0.3336;ExAC_NFE=0.3039;ExAC_OTH=0.3164;ExAC_SAS=0.4134;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,37:95:99:904,0,1519 1 205274174 rs10793728 A G 810.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=intronic;Gene=NM_030952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10793728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.592;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.781;1000g2015aug_all=0.644968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:839,66,0 1 205275206 rs4951195 A T 2748.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.647;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=intronic;Gene=NM_030952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e252\x3bName\x3e"362850:MIRc(SINE)";avsnp150=rs4951195;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2777,187,0 1 205275207 rs4951196 G T 2748.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.4;SOR=1.647;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=intronic;Gene=NM_030952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e252\x3bName\x3e"362850:MIRc(SINE)";avsnp150=rs4951196;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.9942;1000g2015aug_all=0.984625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2777,187,0 1 205275421 rs4951197 A G 2562.77 PASS AC=2;AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=exonic;Gene=NM_030952;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NUAK2:NM_030952:exon5:c.T717C:p.G239G;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951197;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.9928;1000g2015aug_all=0.979233;esp6500siv2_all=0.9795;ExAC_ALL=0.9938;ExAC_AFR=0.9410;ExAC_AMR=0.9946;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9991;ExAC_OTH=0.9901;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,82:82:99:2591,246,0 1 205290794 rs3738746 G A 949.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.581;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=0.258;SOR=0.596;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUAK2;Func=exonic;Gene=NM_030952;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NUAK2:NM_030952:exon1:c.C95T:p.T32I;Gencode=Name\x3eENST00000367157.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0913;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.2972;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.1974;1000g2015aug_all=0.289936;esp6500siv2_all=0.3625;ExAC_ALL=0.3255;ExAC_AFR=0.4888;ExAC_AMR=0.2226;ExAC_EAS=0.0888;ExAC_FIN=0.3551;ExAC_NFE=0.3510;ExAC_OTH=0.2949;ExAC_SAS=0.3128;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,37:48:99:978,0,214 1 205290965 rs35321028 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.068;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_030952;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35321028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.1354;1000g2015aug_all=0.184704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 205295161 rs11240419 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030952,NM_018203;GeneDetail=dist\x3e4242\x3bdist\x3e10032;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e319\x3bName\x3e"362893:MIR3(SINE)";avsnp150=rs11240419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.295;1000g2015aug_amr=0.1354;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 205295165 rs11240420 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_030952,NM_018203;GeneDetail=dist\x3e4246\x3bdist\x3e10028;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e319\x3bName\x3e"362893:MIR3(SINE)";avsnp150=rs11240420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.2753;1000g2015aug_afr=0.295;1000g2015aug_amr=0.1354;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 205307789 rs11240441 G A 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.274;DP=49;ExcessHet=3.0103;FS=2.579;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.05;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000460687.5,ENST00000367156.7,ENST00000367155.7,ENST00000539253.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.138;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.202;1000g2015aug_amr=0.1095;1000g2015aug_all=0.155152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,26:49:99:634,0,688 1 205308335 rs1105385 G A 1353.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.75;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=1.202;SOR=0.844;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=exonic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLHDC8A:NM_018203:exon4:c.C744T:p.F248F,KLHDC8A:NM_001271864:exon5:c.C744T:p.F248F,KLHDC8A:NM_001271865:exon6:c.C744T:p.F248F,KLHDC8A:NM_001271863:exon7:c.C744T:p.F248F;Gencode=Name\x3eENST00000460687.5,ENST00000367156.7,ENST00000367155.7,ENST00000539253.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1105385;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.1354;1000g2015aug_all=0.183307;esp6500siv2_all=0.2768;ExAC_ALL=0.2516;ExAC_AFR=0.2236;ExAC_AMR=0.1136;ExAC_EAS=0.0302;ExAC_FIN=0.3056;ExAC_NFE=0.3070;ExAC_OTH=0.2376;ExAC_SAS=0.2373;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,45:85:99:1382,0,1136 1 205308368 rs1105387 C T 2181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.699;DP=147;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.73;SOR=0.486;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=exonic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KLHDC8A:NM_018203:exon4:c.G711A:p.R237R,KLHDC8A:NM_001271864:exon5:c.G711A:p.R237R,KLHDC8A:NM_001271865:exon6:c.G711A:p.R237R,KLHDC8A:NM_001271863:exon7:c.G711A:p.R237R;Gencode=Name\x3eENST00000367156.7,ENST00000460687.5,ENST00000539253.5,ENST00000367155.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1105387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.134;1000g2015aug_all=0.180112;esp6500siv2_all=0.2723;ExAC_ALL=0.2448;ExAC_AFR=0.2197;ExAC_AMR=0.1107;ExAC_EAS=0.0297;ExAC_FIN=0.2866;ExAC_NFE=0.2985;ExAC_OTH=0.2305;ExAC_SAS=0.2340;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,80:145:99:2210,0,1775 1 205308591 rs1105388 C T 2149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.182;DP=135;ExcessHet=3.0103;FS=5.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.529;SOR=0.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539253.5,ENST00000367155.7,ENST00000367156.7,ENST00000460687.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1105388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2843;1000g2015aug_afr=0.236;1000g2015aug_amr=0.1354;1000g2015aug_all=0.183906;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,75:135:99:2178,0,1730 1 205312280 rs7549293 C G 1029.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.11;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367155.7,ENST00000539253.5,ENST00000460687.5,ENST00000367156.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.562;1000g2015aug_all=0.624002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:1058,81,0 1 205312848 rs7526701 G A 278.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=UTR5;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=NM_001271863:c.-116C>T\x3bNM_001271864:c.-116C>T\x3bNM_001271865:c.-116C>T\x3bNM_018203:c.-116C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367155.7,ENST00000539253.5,ENST00000460687.5,ENST00000367156.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.4611;1000g2015aug_all=0.39996;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:307,27,0 1 205319462 rs4950992 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367155.7,ENST00000539253.5,ENST00000367156.7,ENST00000460687.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950992;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6905;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.572;1000g2015aug_all=0.592851;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 205320238 rs4950993 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539253.5,ENST00000367155.7,ENST00000367156.7,ENST00000460687.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4950993;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9221;1000g2015aug_amr=0.9942;1000g2015aug_all=0.978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 205325458 rs2298251 G A 935.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.309;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=1.805;SOR=0.664;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367155.7,ENST00000539253.5,ENST00000460687.5,ENST00000367156.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.1829;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.3573;1000g2015aug_all=0.277157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,32:56:99:964,0,698 1 205325609 rs2298250 C A 1188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.31;DP=107;ExcessHet=3.0103;FS=3.633;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.086;SOR=0.995;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKLHDC8A;Func=intronic;Gene=NM_001271863,NM_001271864,NM_001271865,NM_018203;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367155.7,ENST00000539253.5,ENST00000367156.7,ENST00000460687.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.4323;1000g2015aug_all=0.459665;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,45:107:99:1217,0,1653 1 205327417 rs4950994 C A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271863,NR_038425;GeneDetail=dist\x3e1199\x3bdist\x3e14963;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1885\x3bName\x3e"362959:AluJb(SINE)";avsnp150=rs4950994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.9827;1000g2015aug_all=0.959465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 205385498 rs6688045 C T 3164.77 PASS AC=2;AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.969;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEMD1;Func=intronic;Gene=NM_001001552,NM_001199050,NM_001199051,NM_001199052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367149.6,ENST00000391936.6,ENST00000367154.5,ENST00000367151.4,ENST00000495594.2,ENST00000367153.8,ENST00000367152.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6688045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.833;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.8746;1000g2015aug_all=0.810104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,96:96:99:3193,288,0 1 205388687 rs913727 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEMD1;Func=intronic;Gene=NM_001001552,NM_001199050,NM_001199051,NM_001199052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391936.6,ENST00000367149.6,ENST00000495594.2,ENST00000367151.4,ENST00000367154.5,ENST00000367152.5,ENST00000367153.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1889\x3bName\x3e"363110:AluSz(SINE)";avsnp150=rs913727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9489;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.902;1000g2015aug_all=0.885184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 205409138 rs7538715 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLACAT1;Func=ncRNA_intronic;Gene=NR_103783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495594.2,ENST00000367154.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7538715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.68;1000g2015aug_amr=0.9582;1000g2015aug_all=0.891573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 205409156 rs7552574 T C 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLACAT1;Func=ncRNA_intronic;Gene=NR_103783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495594.2,ENST00000367154.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.9568;1000g2015aug_all=0.888578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 205409171 rs7552585 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLACAT1;Func=ncRNA_intronic;Gene=NR_103783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367154.5,ENST00000495594.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552585;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.9582;1000g2015aug_all=0.891773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 205412961 rs7548935 C A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLACAT1;Func=ncRNA_intronic;Gene=NR_103783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367154.5,ENST00000495594.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.5885;1000g2015aug_amr=0.8718;1000g2015aug_all=0.819888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 205417231 rs913724 T C 68.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=0.732;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBLACAT1;Func=ncRNA_intronic;Gene=NR_103783;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367154.5,ENST00000495594.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e303\x3bName\x3e"363152:MIR3(SINE)";avsnp150=rs913724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.3767;1000g2015aug_amr=0.2839;1000g2015aug_all=0.31849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:97:97,0,224 1 205473772 rs77694338 T C 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.524;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=UTR5;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=NM_002596:c.-18524T>C\x3bNM_212502:c.-18524T>C\x3bNM_212503:c.-18524T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360066.6,ENST00000506784.5,ENST00000429964.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77694338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.2607;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.0484;1000g2015aug_amr=0.1643;1000g2015aug_all=0.263578;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:61:69,0,61 1 205492756 rs7529442 A G 2292.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=exonic;Gene=NM_212503;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDK18:NM_212503:exon3:c.A276G:p.V92V;Gencode=Name\x3eENST00000360066.6,ENST00000429964.6,ENST00000506784.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7529442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7659;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9642;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.9352;1000g2015aug_all=0.921326;esp6500siv2_all=0.9594;ExAC_ALL=0.9521;ExAC_AFR=0.9427;ExAC_AMR=0.9148;ExAC_EAS=0.7608;ExAC_FIN=0.9622;ExAC_NFE=0.9651;ExAC_OTH=0.9438;ExAC_SAS=0.9849;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2321,201,0 1 205493545 rs41264889 C T 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.701;DP=35;ExcessHet=3.0103;FS=1.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-0.958;SOR=1.189;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360066.6,ENST00000506784.5,ENST00000429964.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41264889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.0417;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.1138;1000g2015aug_all=0.0878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,18:35:99:613,0,503 1 205494508 rs12126276 G A 171.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.54;ReadPosRankSum=-0.366;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360066.6,ENST00000429964.6,ENST00000506784.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12126276;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.1604;1000g2015aug_amr=0.1772;1000g2015aug_all=0.175719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:99:200,0,146 1 205494512 rs12122797 A G 172.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.68;ReadPosRankSum=-0.366;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429964.6,ENST00000506784.5,ENST00000360066.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12122797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1746;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.2594;1000g2015aug_all=0.252596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:99:201,0,146 1 205495392 rs2297837 A G 3954.77 PASS AC=2;AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.711;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429964.6,ENST00000506784.5,ENST00000360066.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.928;1000g2015aug_all=0.896765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,109:109:99:3983,327,0 1 205497940 rs12408209 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000506784.5,ENST00000429964.6,ENST00000360066.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.3088;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.3271;1000g2015aug_all=0.260383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205498021 rs7531230 T C 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=intronic;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429964.6,ENST00000506784.5,ENST00000360066.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7531230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.7546;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.6271;1000g2015aug_amr=0.7406;1000g2015aug_all=0.636182;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:227,0,59 1 205501843 rs8027 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDK18;Func=UTR3;Gene=NM_002596,NM_212502,NM_212503;GeneDetail=NM_002596:c.*1337A>G\x3bNM_212502:c.*1337A>G\x3bNM_212503:c.*1337A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360066.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8027;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.5634;1000g2015aug_eur=0.331;1000g2015aug_afr=0.233;1000g2015aug_amr=0.438;1000g2015aug_all=0.377196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205508580 rs12079844 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002596,NR_027086;GeneDetail=dist\x3e6659\x3bdist\x3e14821;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12079844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9673;1000g2015aug_sas=0.8415;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.696;1000g2015aug_all=0.769169;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 205548619 rs75541573 G A 465.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.997;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-0.225;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000489709.5,ENST00000367147.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75541573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.1431;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.2853;1000g2015aug_all=0.167133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,20:64:99:494,0,1224 1 205548956 rs112374673 G A 1069.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.187;DP=98;ExcessHet=3.0103;FS=2.639;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.498;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=exonic;Gene=NM_181644;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MFSD4A:NM_181644:exon2:c.G308A:p.R103H;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs112374673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0457;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0155751;esp6500siv2_all=0.0393;ExAC_ALL=0.0365;ExAC_AFR=0.0087;ExAC_AMR=0.0189;ExAC_EAS=0.0002;ExAC_FIN=0.0222;ExAC_NFE=0.0563;ExAC_OTH=0.0254;ExAC_SAS=0.0117;SIFT_score=0.813;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.270;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=0.48;FATHMM_pred=T;phyloP100way_vertebrate=0.710;phyloP20way_mammalian=-1.616;SiPhy_29way_logOdds=10.505;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,43:97:99:1098,0,1473 1 205549122 rs77822322 T A 704.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.68;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=1.733;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000489709.5,ENST00000367147.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77822322;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.2363;1000g2015aug_all=0.156949;esp6500siv2_all=0.1697;ExAC_ALL=0.1892;ExAC_AFR=0.1524;ExAC_AMR=0.3046;ExAC_EAS=0.0291;ExAC_FIN=0.1787;ExAC_NFE=0.1836;ExAC_OTH=0.1942;ExAC_SAS=0.2377;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:733,0,552 1 205549274 rs12133326 C T 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e223\x3bName\x3e"363465:MIRc(SINE)";avsnp150=rs12133326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0575;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.2363;1000g2015aug_all=0.156949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:59,0,72 1 205549559 rs4523578 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000489709.5,ENST00000367147.8,ENST00000536357.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4523578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.9742;1000g2015aug_afr=0.857;1000g2015aug_amr=0.9755;1000g2015aug_all=0.953275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205553460 rs112605889 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2335\x3bName\x3e"363468:AluSq2(SINE)";avsnp150=rs112605889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.2363;1000g2015aug_all=0.159944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205554085 rs7526132 G C 2883.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.775;DP=140;ExcessHet=3.0103;FS=1.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=-0.077;SOR=0.555;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=exonic;Gene=NM_181644;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MFSD4A:NM_181644:exon5:c.G941C:p.G314A;Gencode=Name\x3eENST00000367147.8,ENST00000489709.5,ENST00000536357.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0813;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.4503;1000g2015aug_afr=0.708;1000g2015aug_amr=0.4942;1000g2015aug_all=0.425919;esp6500siv2_all=0.5382;ExAC_ALL=0.4449;ExAC_AFR=0.6609;ExAC_AMR=0.4711;ExAC_EAS=0.0592;ExAC_FIN=0.5210;ExAC_NFE=0.4716;ExAC_OTH=0.4449;ExAC_SAS=0.3539;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=0.075;MutationAssessor_pred=N;FATHMM_score=-1.35;FATHMM_pred=T;phyloP100way_vertebrate=4.262;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=15.565;gerp++gt2=4.8;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,75:140:99:2912,0,3874 1 205554095 rs7515820 A C 2718.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.567;DP=133;ExcessHet=3.0103;FS=1.388;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=0.234;SOR=0.534;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=exonic;Gene=NM_181644;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MFSD4A:NM_181644:exon5:c.A951C:p.V317V;Gencode=Name\x3eENST00000367147.8,ENST00000489709.5,ENST00000536357.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.4483;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.4006;1000g2015aug_all=0.359824;esp6500siv2_all=0.4929;ExAC_ALL=0.4204;ExAC_AFR=0.5235;ExAC_AMR=0.4009;ExAC_EAS=0.0344;ExAC_FIN=0.5210;ExAC_NFE=0.4702;ExAC_OTH=0.4305;ExAC_SAS=0.3291;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,70:133:99:2747,0,3851 1 205561511 rs6593956 T A 589.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.061;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.04;ReadPosRankSum=2.051;SOR=0.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000489709.5,ENST00000367147.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6593956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.7882;1000g2015aug_all=0.797524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,15:19:99:618,0,232 1 205568213 rs2282449 C T 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.305;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.247;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6399;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.1849;1000g2015aug_afr=0.143;1000g2015aug_amr=0.3919;1000g2015aug_all=0.353235;esp6500siv2_all=0.1974;ExAC_ALL=0.2864;ExAC_AFR=0.1460;ExAC_AMR=0.4706;ExAC_EAS=0.6229;ExAC_FIN=0.2232;ExAC_NFE=0.2053;ExAC_OTH=0.2489;ExAC_SAS=0.4269;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:95:283,0,95 1 205568390 rs2282450 T A 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.316;DP=23;ExcessHet=3.0103;FS=3.796;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.024;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.5082;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.4251;1000g2015aug_all=0.44389;esp6500siv2_all=0.2965;ExAC_ALL=0.3333;ExAC_AFR=0.4098;ExAC_AMR=0.4932;ExAC_EAS=0.6277;ExAC_FIN=0.2818;ExAC_NFE=0.2299;ExAC_OTH=0.2925;ExAC_SAS=0.4589;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:281,0,362 1 205568438 rs2282451 G T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.221;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.298;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMFSD4;Func=intronic;Gene=NM_181644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536357.2,ENST00000367147.8,ENST00000489709.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6399;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.3948;1000g2015aug_all=0.351438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:140,0,174 1 205615791 rs6673283 A G 502.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.779;DP=36;ExcessHet=3.0103;FS=1.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.193;SOR=0.407;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001973,NM_033102;GeneDetail=dist\x3e13791\x3bdist\x3e11190;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.254;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.341;1000g2015aug_afr=0.407;1000g2015aug_amr=0.4006;1000g2015aug_all=0.331669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,21:36:99:531,0,382 1 205615947 rs4951250 C A 185.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.384;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.204;SOR=0.346;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001973,NM_033102;GeneDetail=dist\x3e13947\x3bdist\x3e11034;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e350\x3bName\x3e"363586:L1MD3(LINE)";avsnp150=rs4951250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.911;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.9207;1000g2015aug_all=0.897364;esp6500siv2_all=.;ExAC_ALL=0.5469;ExAC_AFR=0.4941;ExAC_AMR=0.5256;ExAC_EAS=0.5339;ExAC_FIN=.;ExAC_NFE=0.5514;ExAC_OTH=0.5741;ExAC_SAS=0.5467;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:214,0,260 1 205630893 rs3761916 A G 461.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.038;DP=49;ExcessHet=3.0103;FS=1.413;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.778;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A3;Func=intronic;Gene=NM_033102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367145.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3761916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.4438;1000g2015aug_all=0.347444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,18:48:99:490,0,831 1 205631767 rs16856110 A G 128.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.21;SOR=0.707;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A3;Func=intronic;Gene=NM_033102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367145.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16856110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.3804;1000g2015aug_all=0.229832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:157,0,24 1 205632932 rs11240547 A G 188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.965;DP=25;ExcessHet=3.0103;FS=3.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-0.939;SOR=0.141;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A3;Func=intronic;Gene=NM_033102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367145.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e460\x3bName\x3e"363633:MIR(SINE)";avsnp150=rs11240547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.66;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.353;1000g2015aug_all=0.341853;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,7:25:99:217,0,643 1 205646458 rs1418652 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A3;Func=intronic;Gene=NM_033102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367145.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1647;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.4308;1000g2015aug_all=0.384385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205648805 rs1772138 G A 80.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC45A3;Func=intronic;Gene=NM_033102;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367145.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.2073;1000g2015aug_amr=0.6311;1000g2015aug_all=0.429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:108,9,0 1 205689807 rs823094 T G 403.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.701;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.147;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUCKS1;Func=intronic;Gene=NM_022731;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367142.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3ePubertal_anthropometrics;1000g2015aug_eas=0.004;1000g2015aug_sas=0.1237;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1959;1000g2015aug_amr=0.2594;1000g2015aug_all=0.194888;esp6500siv2_all=0.3584;ExAC_ALL=0.3258;ExAC_AFR=0.2417;ExAC_AMR=0.1805;ExAC_EAS=0.0010;ExAC_FIN=0.4427;ExAC_NFE=0.4299;ExAC_OTH=0.3658;ExAC_SAS=0.1659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,14:24:99:432,0,315 1 205696521 rs1772146 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUCKS1;Func=intronic;Gene=NM_022731;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367142.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.6415;1000g2015aug_amr=0.8444;1000g2015aug_all=0.823482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205696671 rs1772147 G A 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUCKS1;Func=intronic;Gene=NM_022731;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367142.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1772147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8522;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.6384;1000g2015aug_amr=0.8444;1000g2015aug_all=0.822684;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 205718858 rs7536483 A T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUCKS1;Func=intronic;Gene=NM_022731;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367142.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1237;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.1331;1000g2015aug_amr=0.2522;1000g2015aug_all=0.176917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,131 1 205719191 rs111265946 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNUCKS1;Func=UTR5;Gene=NM_022731;GeneDetail=NM_022731:c.-90G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367142.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111265946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0596;1000g2015aug_afr=0.0076;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0223642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205739192 rs823138 T C 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=UTR3;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=NM_001135662:c.*278A>G\x3bNM_001135663:c.*278A>G\x3bNM_001135664:c.*278A>G\x3bNM_003929:c.*278A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446390.6,ENST00000437324.6,ENST00000367139.7,ENST00000235932.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8552;1000g2015aug_sas=0.8834;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.6263;1000g2015aug_amr=0.8444;1000g2015aug_all=0.821086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 205739266 rs708723 C T 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.771;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.817;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=UTR3;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=NM_001135662:c.*204G>A\x3bNM_001135663:c.*204G>A\x3bNM_001135664:c.*204G>A\x3bNM_003929:c.*204G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367139.7,ENST00000235932.8,ENST00000446390.6,ENST00000437324.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708723;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.5583;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.379;1000g2015aug_all=0.414736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:400,0,392 1 205739396 rs823139 T G 3347.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=UTR3;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=NM_001135662:c.*74A>C\x3bNM_001135663:c.*74A>C\x3bNM_001135664:c.*74A>C\x3bNM_003929:c.*74A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437324.6,ENST00000446390.6,ENST00000235932.8,ENST00000367139.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8462;1000g2015aug_sas=0.7904;1000g2015aug_eur=0.8579;1000g2015aug_afr=0.441;1000g2015aug_amr=0.7767;1000g2015aug_all=0.721046;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3376,294,0 1 205740403 rs823140 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=intronic;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235932.8,ENST00000367139.7,ENST00000437324.6,ENST00000446390.6,ENST00000414729.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2527\x3bName\x3e"363856:AluY(SINE)";avsnp150=rs823140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.9473;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.8343;1000g2015aug_all=0.811901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 205741426 rs823141 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=intronic;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446390.6,ENST00000414729.1,ENST00000437324.6,ENST00000367139.7,ENST00000235932.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.2522;1000g2015aug_all=0.178115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 205741816 rs823142 A T 418.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.28;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=intronic;Gene=NM_001135662,NM_001135663,NM_001135664,NM_003929;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000235932.8,ENST00000367139.7,ENST00000437324.6,ENST00000446390.6,ENST00000414729.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823142;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.8824;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.8458;1000g2015aug_all=0.823882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:447,33,0 1 205744138 rs708725 G T 619.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.271;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.498;SOR=0.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB29;Func=UTR5;Gene=NM_001135662,NM_001135663,NM_003929;GeneDetail=NM_001135662:c.-54C>A\x3bNM_001135663:c.-54C>A\x3bNM_003929:c.-54C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437324.6,ENST00000414729.1,ENST00000446390.6,ENST00000235932.8,ENST00000367139.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708725;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.2565;1000g2015aug_all=0.178914;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:648,0,575 1 205764640 rs823156 G A 1629.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.35;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.216;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC41A1;Func=intronic;Gene=NM_173854;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367137.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eParkinson's_disease;1000g2015aug_eas=0.755;1000g2015aug_sas=0.726;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.3381;1000g2015aug_amr=0.7464;1000g2015aug_all=0.649161;esp6500siv2_all=0.6841;ExAC_ALL=0.7681;ExAC_AFR=0.4144;ExAC_AMR=0.7339;ExAC_EAS=0.7961;ExAC_FIN=0.8314;ExAC_NFE=0.8252;ExAC_OTH=0.7933;ExAC_SAS=0.7409;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,59:109:99:1658,0,1335 1 205765795 rs823157 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC41A1;Func=intronic;Gene=NM_173854;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367137.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1358\x3bName\x3e"363908:MSTB2(LTR)";avsnp150=rs823157;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.755;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.4992;1000g2015aug_amr=0.8012;1000g2015aug_all=0.717452;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 205767885 rs708727 G A 1392.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.553;DP=147;ExcessHet=3.0103;FS=2.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-1.601;SOR=0.656;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC41A1;Func=exonic;Gene=NM_173854;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC41A1:NM_173854:exon6:c.C756T:p.N252N;Gencode=Name\x3eENST00000367137.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.003;1000g2015aug_sas=0.1196;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.0227;1000g2015aug_amr=0.2291;1000g2015aug_all=0.141374;esp6500siv2_all=0.2968;ExAC_ALL=0.2953;ExAC_AFR=0.0700;ExAC_AMR=0.1666;ExAC_EAS=0.0006;ExAC_FIN=0.4399;ExAC_NFE=0.4122;ExAC_OTH=0.3396;ExAC_SAS=0.1494;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,62:147:99:1421,0,2326 1 205768309 rs4396169 C T 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.375;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC41A1;Func=intronic;Gene=NM_173854;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367137.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4396169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.0711;1000g2015aug_amr=0.1931;1000g2015aug_all=0.28774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:283,0,325 1 205779231 rs11240569 G A 827.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.397;DP=53;ExcessHet=3.0103;FS=5.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.347;SOR=1.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC41A1;Func=exonic;Gene=NM_173854;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC41A1:NM_173854:exon2:c.C339T:p.T113T;Gencode=Name\x3eENST00000367137.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.0174;1000g2015aug_amr=0.1873;1000g2015aug_all=0.276558;esp6500siv2_all=0.2111;ExAC_ALL=0.2949;ExAC_AFR=0.0535;ExAC_AMR=0.1891;ExAC_EAS=0.5700;ExAC_FIN=0.2945;ExAC_NFE=0.2945;ExAC_OTH=0.3060;ExAC_SAS=0.3779;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,30:53:99:856,0,587 1 205798033 rs823085 G A 804.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs823085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.9294;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.8271;1000g2015aug_all=0.783347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:833,60,0 1 205801872 rs1361754 A G 1284.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=98;ExcessHet=3.0103;FS=0.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.484;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=exonic;Gene=NM_152491;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PM20D1:NM_152491:exon11:c.T1139C:p.I380T;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1361754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.5219;1000g2015aug_afr=0.3487;1000g2015aug_amr=0.3112;1000g2015aug_all=0.281749;esp6500siv2_all=0.4819;ExAC_ALL=0.4147;ExAC_AFR=0.3998;ExAC_AMR=0.2269;ExAC_EAS=0.0023;ExAC_FIN=0.5502;ExAC_NFE=0.5257;ExAC_OTH=0.4473;ExAC_SAS=0.2491;SIFT_score=0.596;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.93;MutationAssessor_pred=L;FATHMM_score=0.27;FATHMM_pred=T;phyloP100way_vertebrate=0.693;phyloP20way_mammalian=-0.203;SiPhy_29way_logOdds=7.487;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,49:97:99:1313,0,1183 1 205809642 rs10900525 G C 1004.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.708;DP=80;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.081;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10900525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.6153;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.6182;1000g2015aug_all=0.481829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,37:80:99:1033,0,1173 1 205812614 rs960603 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs960603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0863;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.4553;1000g2015aug_all=0.229832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 205813672 rs11240574 T C 1138.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.48;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11240574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0565;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.0855;1000g2015aug_amr=0.402;1000g2015aug_all=0.220847;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:78:1167,78,0 1 205813677 rs4369285 T C 1138.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.75;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4369285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.7975;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.8329;1000g2015aug_all=0.819489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1167,78,0 1 205814497 rs1891460 T C 4179.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=exonic;Gene=NM_152491;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PM20D1:NM_152491:exon3:c.A445G:p.I149V;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.9344;1000g2015aug_afr=0.8744;1000g2015aug_amr=0.8386;1000g2015aug_all=0.838458;esp6500siv2_all=0.9250;ExAC_ALL=0.8833;ExAC_AFR=0.8812;ExAC_AMR=0.7191;ExAC_EAS=0.7406;ExAC_FIN=0.9181;ExAC_NFE=0.9446;ExAC_OTH=0.9020;ExAC_SAS=0.8114;SIFT_score=0.244;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.77;MutationAssessor_pred=N;FATHMM_score=3.21;FATHMM_pred=T;phyloP100way_vertebrate=4.724;phyloP20way_mammalian=-0.148;SiPhy_29way_logOdds=9.016;gerp++gt2=3.65;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4208,389,0 1 205816923 rs11240576 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.93;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePM20D1;Func=intronic;Gene=NM_152491;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367136.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.975197\x3bName\x3echr1:205853609;Repeat=.;avsnp150=rs11240576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.6916;1000g2015aug_all=0.559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 205886813 rs6421774 C A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC26A9;Func=intronic;Gene=NM_052934,NM_134325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367134.2,ENST00000367135.7,ENST00000340781.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e251\x3bName\x3e"364117:MIRc(SINE)";avsnp150=rs6421774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.8429;1000g2015aug_all=0.814497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 205888272 rs7366689 T C 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC26A9;Func=intronic;Gene=NM_052934,NM_134325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367135.7,ENST00000340781.8,ENST00000367134.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7366689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.9059;1000g2015aug_eur=0.8956;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.9409;1000g2015aug_all=0.904153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 205890679 rs12759719 T C 868.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC26A9;Func=intronic;Gene=NM_052934,NM_134325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340781.8,ENST00000367135.7,ENST00000367134.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12759719;cosmic70=.;CLNALLELEID=389371;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.9395;1000g2015aug_all=0.914137;esp6500siv2_all=0.9043;ExAC_ALL=0.9150;ExAC_AFR=0.9192;ExAC_AMR=0.9519;ExAC_EAS=0.9235;ExAC_FIN=0.9096;ExAC_NFE=0.9019;ExAC_OTH=0.8993;ExAC_SAS=0.9375;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:897,84,0 1 205896475 rs7366204 C T 2586.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC26A9;Func=intronic;Gene=NM_052934,NM_134325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367134.2,ENST00000340781.8,ENST00000367135.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7366204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.909;1000g2015aug_eur=0.8897;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.9236;1000g2015aug_all=0.870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2615,210,0 1 205896948 rs3811424 A G 1652.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.38;SOR=3.417;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC26A9;Func=intronic;Gene=NM_052934,NM_134325;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367134.2,ENST00000340781.8,ENST00000367135.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.6657;1000g2015aug_all=0.523562;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1681,129,0 1 205909276 rs6593975 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC103021296,SLC26A9;Func=ncRNA_intronic;Gene=NR_110983,NR_110984;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367134.2,ENST00000367135.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6593975;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.7176;1000g2015aug_all=0.666334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,87 1 205909285 rs6593976 A C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC103021296,SLC26A9;Func=ncRNA_intronic;Gene=NR_110983,NR_110984;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367135.7,ENST00000367134.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6593976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9306;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.5417;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.7176;1000g2015aug_all=0.672125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,87 1 206941864 rs3024496 A G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.015;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=UTR3;Gene=NM_000572;GeneDetail=NM_000572:c.*117T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3024496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2342;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.304;1000g2015aug_all=0.28774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 206943351 rs3024494 T C 627.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3024494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.916;1000g2015aug_amr=0.9957;1000g2015aug_all=0.976837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:656,57,0 1 206943968 rs3024493 C A 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.07;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.17;ReadPosRankSum=0.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3024493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eUlcerative_colitis;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.1401;1000g2015aug_eur=0.166;1000g2015aug_afr=0.0151;1000g2015aug_amr=0.0807;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,12:16:85:351,0,85 1 206944233 rs1554286 A G 1894.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.083;DP=143;ExcessHet=3.0103;FS=0.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.628;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1554286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.5818;1000g2015aug_eur=0.8151;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.6931;1000g2015aug_all=0.591853;esp6500siv2_all=0.7509;ExAC_ALL=0.7169;ExAC_AFR=0.6064;ExAC_AMR=0.6162;ExAC_EAS=0.3233;ExAC_FIN=0.8130;ExAC_NFE=0.8090;ExAC_OTH=0.75;ExAC_SAS=0.6507;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:72,71:143:99:1923,0,1925 1 206944645 rs1518111 T C 323.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.021;DP=22;ExcessHet=3.0103;FS=2.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.297;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1518111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eBehcet's_disease;1000g2015aug_eas=0.3244;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.7793;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.6715;1000g2015aug_all=0.573083;esp6500siv2_all=0.7326;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:352,0,367 1 206944861 rs1518110 A C 769.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.88;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.341;SOR=0.776;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1518110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.5658;1000g2015aug_amr=0.6715;1000g2015aug_all=0.574281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,32:65:99:798,0,956 1 206945046 rs3024491 C A 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3024491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.2925;1000g2015aug_all=0.250599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 206945381 rs2222202 G A 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.068;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL10;Func=intronic;Gene=NM_000572;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423557.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2222202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.4523;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.2925;1000g2015aug_all=0.250599;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 206972072 rs4845141 C T 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=7.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.425;SOR=0.039;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_153758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4845141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.4683;1000g2015aug_all=0.470248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,376 1 207009910 rs2243170 T C 246.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL19;Func=intronic;Gene=NM_013371,NM_153758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340758.6,ENST00000270218.10,ENST00000620365.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243170;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAlzheimer's_disease_(survival_time);1000g2015aug_eas=0.7976;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9185;1000g2015aug_afr=0.6762;1000g2015aug_amr=0.8617;1000g2015aug_all=0.823882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:275,21,0 1 207014472 rs2243188 A C 3171.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL19;Func=intronic;Gene=NM_013371,NM_153758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340758.6,ENST00000270218.10,ENST00000620365.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4058;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.7594;1000g2015aug_afr=0.5582;1000g2015aug_amr=0.6455;1000g2015aug_all=0.613818;esp6500siv2_all=0.7135;ExAC_ALL=0.6920;ExAC_AFR=0.5916;ExAC_AMR=0.5974;ExAC_EAS=0.3755;ExAC_FIN=0.7208;ExAC_NFE=0.7595;ExAC_OTH=0.6959;ExAC_SAS=0.7002;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3200,294,0 1 207014776 rs960326 C T 183.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL19;Func=intronic;Gene=NM_013371,NM_153758;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620365.1,ENST00000270218.10,ENST00000340758.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs960326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7946;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.6702;1000g2015aug_amr=0.8588;1000g2015aug_all=0.820887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:212,21,0 1 207015957 rs2243191 T C 2627.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=0.897;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL19;Func=exonic;Gene=NM_013371,NM_153758;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL19:NM_153758:exon6:c.T638C:p.F213S,IL19:NM_013371:exon7:c.T524C:p.F175S;Gencode=Name\x3eENST00000270218.10,ENST00000340758.6,ENST00000620365.1;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.6729;1000g2015aug_all=0.672923;esp6500siv2_all=0.7963;ExAC_ALL=0.7479;ExAC_AFR=0.8325;ExAC_AMR=0.6740;ExAC_EAS=0.4357;ExAC_FIN=0.7581;ExAC_NFE=0.7953;ExAC_OTH=0.7098;ExAC_SAS=0.6896;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.288;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;phyloP100way_vertebrate=0.155;phyloP20way_mammalian=-0.328;SiPhy_29way_logOdds=9.247;gerp++gt2=4.71;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2656,252,0 1 207016225 rs2243193 A G 335.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL19;Func=UTR3;Gene=NM_013371,NM_153758;GeneDetail=NM_013371:c.*258A>G\x3bNM_153758:c.*258A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000620365.1,ENST00000340758.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.7575;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.6441;1000g2015aug_all=0.588658;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:364,27,0 1 207040577 rs2981573 G A 472.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.86;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL20;Func=intronic;Gene=NM_018724;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367098.5,ENST00000367096.7,ENST00000391930.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2981573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3403;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.8132;1000g2015aug_amr=0.6715;1000g2015aug_all=0.673922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 207040614 rs2232359 A G 819.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.765;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.27;ReadPosRankSum=0.953;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL20;Func=intronic;Gene=NM_018724;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391930.3,ENST00000367096.7,ENST00000367098.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0836;1000g2015aug_all=0.0359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,24:29:99:848,0,121 1 207040659 rs2232360 G A 2064.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL20;Func=intronic;Gene=NM_018724;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391930.3,ENST00000367096.7,ENST00000367098.5;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2232360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.8124;1000g2015aug_amr=0.6715;1000g2015aug_all=0.673323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2093,183,0 1 207071595 rs1150253 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL24;Func=intronic;Gene=NM_001185156,NM_001185157,NM_001185158,NM_006850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391929.7,ENST00000294984.6,ENST00000611909.4,ENST00000367093.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.229;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.438;1000g2015aug_all=0.308307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 207072959 rs1150255 C T 1030.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.689;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.03;SOR=0.523;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL24;Func=intronic;Gene=NM_001185156,NM_001185157,NM_001185158,NM_006850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367093.3,ENST00000391929.7,ENST00000611909.4,ENST00000294984.6;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e338\x3bName\x3e"365992:MIRc(SINE)";avsnp150=rs1150255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.228;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.438;1000g2015aug_all=0.309904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,34:50:99:1059,0,482 1 207073491 rs1150257 T C 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=-0.542;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL24;Func=intronic;Gene=NM_001185156,NM_001185157,NM_001185158,NM_006850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294984.6,ENST00000611909.4,ENST00000391929.7,ENST00000367093.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.4957;1000g2015aug_all=0.480831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:253,0,134 1 207074905 rs1150258 T C 430.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.166;DP=32;ExcessHet=3.0103;FS=1.47;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.096;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL24;Func=exonic;Gene=NM_001185156,NM_006850;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IL24:NM_001185156:exon5:c.T373C:p.Y125H,IL24:NM_006850:exon5:c.T370C:p.Y124H;Gencode=Name\x3eENST00000611909.4,ENST00000294984.6,ENST00000391929.7,ENST00000367093.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.228;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.438;1000g2015aug_all=0.315695;esp6500siv2_all=0.4120;ExAC_ALL=0.3976;ExAC_AFR=0.2920;ExAC_AMR=0.4600;ExAC_EAS=0.2157;ExAC_FIN=0.3781;ExAC_NFE=0.4650;ExAC_OTH=0.4249;ExAC_SAS=0.2498;SIFT_score=0.098;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.726;MutationTaster_pred=P;MutationAssessor_score=2.19;MutationAssessor_pred=M;FATHMM_score=2.25;FATHMM_pred=T;phyloP100way_vertebrate=1.074;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=3.697;gerp++gt2=2.38;CADD=4.227;CADD_Phred=23.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:459,0,413 1 207075171 rs291107 T C 184.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.852;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.179;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIL24;Func=intronic;Gene=NM_001185156,NM_001185157,NM_001185158,NM_006850;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391929.7,ENST00000611909.4,ENST00000294984.6,ENST00000367093.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e686\x3bName\x3e"365994:MIRb(SINE)";avsnp150=rs291107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2431;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.4751;1000g2015aug_afr=0.8366;1000g2015aug_amr=0.4957;1000g2015aug_all=0.48103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:88:213,0,88 1 207081654 rs1713231 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=intronic;Gene=NM_001142473,NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628511.2,ENST00000442471.4,ENST00000367091.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=Score\x3e0.911738\x3bName\x3echr14:55766157;Repeat=.;avsnp150=rs1713231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.4533;1000g2015aug_afr=0.2065;1000g2015aug_amr=0.3098;1000g2015aug_all=0.253994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 207086845 rs94872 T C 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=intronic;Gene=NM_001142473,NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367091.7,ENST00000442471.4,ENST00000628511.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs94872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.493;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.5216;1000g2015aug_all=0.552716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 207086969 rs291083 A G 659.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.277;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0.295;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=intronic;Gene=NM_001142473,NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367091.7,ENST00000442471.4,ENST00000628511.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs291083;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.3069;1000g2015aug_all=0.244209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,22:45:99:688,0,665 1 207087053 rs72758947 A G 1195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.004;DP=93;ExcessHet=3.0103;FS=1.778;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.785;SOR=1;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=intronic;Gene=NM_001142473,NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628511.2,ENST00000442471.4,ENST00000367091.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72758947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.1133;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1239;1000g2015aug_all=0.109625;esp6500siv2_all=0.0967;ExAC_ALL=0.1200;ExAC_AFR=0.0638;ExAC_AMR=0.0976;ExAC_EAS=0.1797;ExAC_FIN=0.1327;ExAC_NFE=0.1206;ExAC_OTH=0.1414;ExAC_SAS=0.1304;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,46:92:99:1224,0,1224 1 207087435 rs167082 C T 786.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.183;DP=61;ExcessHet=3.0103;FS=3.011;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.469;SOR=1.431;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=exonic;Gene=NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCMR:NM_001193338:exon2:c.G42A:p.S14S,FCMR:NM_005449:exon2:c.G42A:p.S14S;Gencode=Name\x3eENST00000442471.4,ENST00000367091.7,ENST00000628511.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs167082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.3069;1000g2015aug_all=0.244209;esp6500siv2_all=0.3764;ExAC_ALL=0.3624;ExAC_AFR=0.1967;ExAC_AMR=0.2820;ExAC_EAS=0.1456;ExAC_FIN=0.3813;ExAC_NFE=0.4608;ExAC_OTH=0.4053;ExAC_SAS=0.2276;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,25:61:99:815,0,1093 1 207089268 rs840270 C T 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCMR;Func=intronic;Gene=NM_001142473,NM_001193338,NM_005449;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000628511.2,ENST00000367091.7,ENST00000442471.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs840270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4216;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.5216;1000g2015aug_all=0.551917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 207109116 rs2275531 C T 791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.101;DP=66;ExcessHet=3.0103;FS=2.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-1.398;SOR=1.121;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=exonic;Gene=NM_002644;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PIGR:NM_002644:exon5:c.G1093A:p.G365S;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.3271;1000g2015aug_all=0.296326;esp6500siv2_all=0.3769;ExAC_ALL=0.3833;ExAC_AFR=0.2253;ExAC_AMR=0.2946;ExAC_EAS=0.3190;ExAC_FIN=0.4060;ExAC_NFE=0.4590;ExAC_OTH=0.4268;ExAC_SAS=0.2547;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.357;MutationTaster_pred=P;MutationAssessor_score=1.725;MutationAssessor_pred=L;FATHMM_score=3.66;FATHMM_pred=T;phyloP100way_vertebrate=0.462;phyloP20way_mammalian=0.065;SiPhy_29way_logOdds=8.687;gerp++gt2=4.64;CADD=4.002;CADD_Phred=23.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,33:66:99:820,0,843 1 207109167 rs6695632 G A 329.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.698;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.133;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=intronic;Gene=NM_002644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695632;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.3242;1000g2015aug_all=0.286741;esp6500siv2_all=0.3610;ExAC_ALL=0.3860;ExAC_AFR=0.1919;ExAC_AMR=0.2924;ExAC_EAS=0.3176;ExAC_FIN=0.4061;ExAC_NFE=0.4586;ExAC_OTH=0.4331;ExAC_SAS=0.2762;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:358,0,628 1 207110363 rs748140 A G 320.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.409;DP=24;ExcessHet=3.0103;FS=6.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.474;SOR=0.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=intronic;Gene=NM_002644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs748140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1929;1000g2015aug_amr=0.3199;1000g2015aug_all=0.291534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:349,0,429 1 207110936 rs291096 T C 1029.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.429;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=exonic;Gene=NM_002644;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PIGR:NM_002644:exon4:c.A549G:p.V183V;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs291096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.5115;1000g2015aug_all=0.550919;esp6500siv2_all=0.5967;ExAC_ALL=0.4770;ExAC_AFR=0.8625;ExAC_AMR=0.5099;ExAC_EAS=0.4369;ExAC_FIN=0.3878;ExAC_NFE=0.4712;ExAC_OTH=0.4710;ExAC_SAS=0.2895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,36:65:99:1058,0,779 1 207111257 rs291095 G T 935.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=1.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=intronic;Gene=NM_002644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e322\x3bName\x3e"366063:L2c(LINE)";avsnp150=rs291095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5556;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.6302;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.6282;1000g2015aug_all=0.711462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:964,96,0 1 207113679 rs291091 T C 288.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.226;DP=22;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.55;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=intronic;Gene=NM_002644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs291091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.5115;1000g2015aug_all=0.550919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:317,0,389 1 207113755 rs2007272 G C 339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.744;DP=33;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.337;SOR=0.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePIGR;Func=intronic;Gene=NM_002644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356495.4;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2007272;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.1861;1000g2015aug_amr=0.3199;1000g2015aug_all=0.289736;esp6500siv2_all=0.3754;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,12:33:99:368,0,539 1 207132345 rs7556372 A G 170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.17;DP=25;ExcessHet=3.0103;FS=1.603;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=-0.085;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450945.2,ENST00000400962.7,ENST00000324852.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7556372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.513;1000g2015aug_all=0.551118;esp6500siv2_all=.;ExAC_ALL=0.4366;ExAC_AFR=0.8575;ExAC_AMR=0.5414;ExAC_EAS=0.4456;ExAC_FIN=0.3788;ExAC_NFE=0.5128;ExAC_OTH=0.4333;ExAC_SAS=0.3183;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,9:25:99:199,0,423 1 207139046 rs11576146 A G 599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.869;DP=30;ExcessHet=3.0103;FS=2.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=2.71;SOR=1.949;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450945.2,ENST00000400962.7,ENST00000324852.8;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11576146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.162;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.1513;1000g2015aug_all=0.189497;esp6500siv2_all=0.1862;ExAC_ALL=0.1904;ExAC_AFR=0.1845;ExAC_AMR=0.1605;ExAC_EAS=0.3175;ExAC_FIN=0.1974;ExAC_NFE=0.1885;ExAC_OTH=0.1929;ExAC_SAS=0.1328;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,18:30:99:628,0,331 1 207139362 rs12569037 C G 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.162;DP=38;ExcessHet=3.0103;FS=4.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.219;SOR=0.107;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400962.7,ENST00000324852.8,ENST00000450945.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e799\x3bName\x3e"366112:LTR78(LTR)";avsnp150=rs12569037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.162;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.1513;1000g2015aug_all=0.190096;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,19:38:99:541,0,640 1 207140440 rs11119933 C T 646.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.114;DP=60;ExcessHet=3.0103;FS=1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.78;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=exonic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FCAMR:NM_001170631:exon3:c.G126A:p.A42A,FCAMR:NM_032029:exon3:c.G126A:p.A42A,FCAMR:NM_001122979:exon4:c.G126A:p.A42A;Gencode=Name\x3eENST00000450945.2,ENST00000324852.8,ENST00000400962.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11119933;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.165;1000g2015aug_afr=0.3797;1000g2015aug_amr=0.1715;1000g2015aug_all=0.236621;esp6500siv2_all=0.23;ExAC_ALL=0.1990;ExAC_AFR=0.3396;ExAC_AMR=0.1692;ExAC_EAS=0.3176;ExAC_FIN=0.2025;ExAC_NFE=0.1874;ExAC_OTH=0.1927;ExAC_SAS=0.1195;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,27:60:99:675,0,857 1 207141234 rs2000056 A G 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450945.2,ENST00000324852.8,ENST00000400962.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e186\x3bName\x3e"366116:L2b(LINE)";avsnp150=rs2000056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.162;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.1513;1000g2015aug_all=0.189497;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 207142507 rs17018488 T C 512.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.89;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.395;SOR=0.76;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000324852.8,ENST00000400962.7,ENST00000450945.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17018488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.161;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.1499;1000g2015aug_all=0.189097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:541,0,475 1 207143296 rs1890864 C T 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450945.2,ENST00000324852.8,ENST00000400962.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1890864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.0777;1000g2015aug_eur=0.161;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.1499;1000g2015aug_all=0.188698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 207143422 rs1856746 A G 410.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.123;DP=31;ExcessHet=3.0103;FS=9.454;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.475;SOR=0.069;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=intronic;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000324852.8,ENST00000400962.7,ENST00000450945.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1856746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.2556;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.9319;1000g2015aug_amr=0.5101;1000g2015aug_all=0.55012;esp6500siv2_all=0.5855;ExAC_ALL=0.4725;ExAC_AFR=0.8643;ExAC_AMR=0.5034;ExAC_EAS=0.4322;ExAC_FIN=0.3846;ExAC_NFE=0.4680;ExAC_OTH=0.4656;ExAC_SAS=0.2938;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:439,0,499 1 207143550 rs1340232 C T 1089.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.548;DP=82;ExcessHet=3.0103;FS=0.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.704;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFCAMR;Func=UTR5;Gene=NM_001122979,NM_001170631,NM_032029;GeneDetail=NM_001122979:c.-80G>A\x3bNM_001170631:c.-80G>A\x3bNM_032029:c.-80G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000324852.8,ENST00000400962.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.1499;1000g2015aug_all=0.172923;esp6500siv2_all=0.1837;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,45:82:99:1118,0,897 1 207175499 . C A 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=31.02;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31529\x3bdist\x3e16367;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207175500 . A C 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=32.62;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31530\x3bdist\x3e16366;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207175511 . C G 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=23.72;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31541\x3bdist\x3e16355;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207175512 . A G 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=27.79;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31542\x3bdist\x3e16354;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207175516 . G T 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=29.64;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31546\x3bdist\x3e16350;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207175521 . G T 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.58;QD=29.16;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001122979,NM_001083924;GeneDetail=dist\x3e31551\x3bdist\x3e16345;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 207195779 rs2842726 A G 4954.77 PASS AC=2;AF=1;AN=2;DP=149;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf116;Func=exonic;Gene=NM_001083924,NM_023938;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C1orf116:NM_001083924:exon3:c.T592C:p.S198P,C1orf116:NM_023938:exon4:c.T1330C:p.S444P;Gencode=Name\x3eENST00000359470.5,ENST00000461135.2;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2842726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9891;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9914;1000g2015aug_all=0.995208;esp6500siv2_all=0.9887;ExAC_ALL=0.9883;ExAC_AFR=0.9979;ExAC_AMR=0.9942;ExAC_EAS=1;ExAC_FIN=0.9680;ExAC_NFE=0.9847;ExAC_OTH=0.9813;ExAC_SAS=0.9947;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.066;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.28;MutationAssessor_pred=N;FATHMM_score=3.33;FATHMM_pred=T;phyloP100way_vertebrate=-0.083;phyloP20way_mammalian=-0.232;SiPhy_29way_logOdds=1.457;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,149:149:99:4983,447,0 1 207235954 rs2075863 G A 1424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.975;DP=125;ExcessHet=3.0103;FS=3.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.649;SOR=0.72;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePFKFB2;Func=intronic;Gene=NM_001018053,NM_006212;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367079.3,ENST00000367080.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2075863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.2522;1000g2015aug_all=0.256989;esp6500siv2_all=0.3633;ExAC_ALL=0.3513;ExAC_AFR=0.2260;ExAC_AMR=0.1933;ExAC_EAS=0.1677;ExAC_FIN=0.4187;ExAC_NFE=0.4255;ExAC_OTH=0.3883;ExAC_SAS=0.3081;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,58:125:99:1453,0,1559 1 207243851 rs923109 A G 579.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePFKFB2;Func=intronic;Gene=NM_001018053,NM_006212;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367080.7,ENST00000367079.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs923109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.9584;1000g2015aug_amr=0.8271;1000g2015aug_all=0.877196;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:608,51,0 1 207252647 rs17258746 T A 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePFKFB2;Func=UTR3;Gene=NM_001018053;GeneDetail=NM_001018053:c.*283T>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367079.3;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17258746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0833;1000g2015aug_sas=0.0961;1000g2015aug_eur=0.1511;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.1499;1000g2015aug_all=0.096845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 207262980 rs12711513 T G 746.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.533;DP=53;ExcessHet=3.0103;FS=3.844;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.348;SOR=1.273;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPB;Func=intronic;Gene=NM_000716,NM_001017364,NM_001017365,NM_001017366,NM_001017367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391923.1,ENST00000367078.7,ENST00000367076.7,ENST00000243611.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12711513;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.6207;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.6398;1000g2015aug_all=0.61242;esp6500siv2_all=0.5003;ExAC_ALL=0.5639;ExAC_AFR=0.5161;ExAC_AMR=0.7401;ExAC_EAS=0.8531;ExAC_FIN=0.5372;ExAC_NFE=0.4950;ExAC_OTH=0.5365;ExAC_SAS=0.6094;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,28:53:99:775,0,634 1 207263829 rs6690037 A G 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.515;DP=27;ExcessHet=3.0103;FS=1.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.691;SOR=1.115;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPB;Func=intronic;Gene=NM_000716,NM_001017364,NM_001017365,NM_001017366,NM_001017367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000243611.9,ENST00000391923.1,ENST00000367076.7,ENST00000367078.7;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690037;cosmic70=.;CLNALLELEID=389372;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.536;1000g2015aug_all=0.44349;esp6500siv2_all=0.3708;ExAC_ALL=0.5017;ExAC_AFR=0.1262;ExAC_AMR=0.6355;ExAC_EAS=0.7736;ExAC_FIN=0.5162;ExAC_NFE=0.4896;ExAC_OTH=0.4933;ExAC_SAS=0.5470;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,11:27:99:310,0,405 1 207268779 rs7542292 A G 367.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.388;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPB;Func=intronic;Gene=NM_000716,NM_001017364,NM_001017365,NM_001017366,NM_001017367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391923.1,ENST00000367076.7,ENST00000367078.7,ENST00000243611.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2215\x3bName\x3e"366348:AluSx(SINE)";avsnp150=rs7542292;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.5476;1000g2015aug_all=0.509185;esp6500siv2_all=.;ExAC_ALL=0.5229;ExAC_AFR=0.4015;ExAC_AMR=0.5182;ExAC_EAS=0.8013;ExAC_FIN=.;ExAC_NFE=0.4613;ExAC_OTH=0.4918;ExAC_SAS=0.5461;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:396,0,352 1 207268860 rs7529011 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPB;Func=intronic;Gene=NM_000716,NM_001017364,NM_001017365,NM_001017366,NM_001017367;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391923.1,ENST00000367078.7,ENST00000367076.7,ENST00000243611.9;cytoBand=1q32.1;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2215\x3bName\x3e"366348:AluSx(SINE)";avsnp150=rs7529011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.5389;1000g2015aug_all=0.482827;esp6500siv2_all=.;ExAC_ALL=0.5840;ExAC_AFR=0.3871;ExAC_AMR=0.6154;ExAC_EAS=0.7963;ExAC_FIN=.;ExAC_NFE=0.5464;ExAC_OTH=0.5;ExAC_SAS=0.5971;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:95:107,0,95 1 207288897 rs12031629 T C 383.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.711;DP=32;ExcessHet=3.0103;FS=7.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.002;SOR=0.08;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPA;Func=intronic;Gene=NM_000715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367070.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1702\x3bName\x3e"366390:L1ME4b(LINE)";avsnp150=rs12031629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.2398;1000g2015aug_amr=0.5187;1000g2015aug_all=0.455671;esp6500siv2_all=0.4838;ExAC_ALL=0.5673;ExAC_AFR=0.3286;ExAC_AMR=0.5845;ExAC_EAS=0.6324;ExAC_FIN=0.5833;ExAC_NFE=0.6019;ExAC_OTH=0.5667;ExAC_SAS=0.5104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:412,0,485 1 207297680 rs1126618 T C 2437.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPA;Func=exonic;Gene=NM_000715;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=C4BPA:NM_000715:exon6:c.T675C:p.G225G;Gencode=Name\x3eENST00000367070.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1126618;cosmic70=.;CLNALLELEID=389358;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.829;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8646;1000g2015aug_all=0.857827;esp6500siv2_all=0.8610;ExAC_ALL=0.8545;ExAC_AFR=0.9090;ExAC_AMR=0.9076;ExAC_EAS=0.8103;ExAC_FIN=0.8800;ExAC_NFE=0.8344;ExAC_OTH=0.8425;ExAC_SAS=0.8777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2466,233,0 1 207300259 rs2491393 A G 1485.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.057;DP=111;ExcessHet=3.0103;FS=9.507;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.867;SOR=0.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPA;Func=intronic;Gene=NM_000715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367070.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2491393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.4308;1000g2015aug_all=0.422125;esp6500siv2_all=0.4163;ExAC_ALL=0.3773;ExAC_AFR=0.5584;ExAC_AMR=0.4178;ExAC_EAS=0.2986;ExAC_FIN=0.4652;ExAC_NFE=0.3481;ExAC_OTH=0.3971;ExAC_SAS=0.3568;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,55:111:99:1514,0,1562 1 207300381 rs2491394 T A 521.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.196;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=2.159;SOR=0.321;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPA;Func=intronic;Gene=NM_000715;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367070.7,ENST00000619568.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2491394;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.2983;1000g2015aug_all=0.353834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:550,0,406 1 207304900 rs4844573 T C 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.632;DP=23;ExcessHet=3.0103;FS=1.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=1.733;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC4BPA;Func=exonic;Gene=NM_000715;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=C4BPA:NM_000715:exon8:c.T899C:p.I300T;Gencode=Name\x3eENST00000367070.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844573;cosmic70=.;CLNALLELEID=389345;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.4625;1000g2015aug_all=0.489816;esp6500siv2_all=0.4841;ExAC_ALL=0.4014;ExAC_AFR=0.7658;ExAC_AMR=0.4312;ExAC_EAS=0.3002;ExAC_FIN=0.4686;ExAC_NFE=0.3546;ExAC_OTH=0.4096;ExAC_SAS=0.3613;SIFT_score=0.924;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.104;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.735;MutationAssessor_pred=N;FATHMM_score=0.02;FATHMM_pred=T;phyloP100way_vertebrate=-2.575;phyloP20way_mammalian=-0.318;SiPhy_29way_logOdds=16.213;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:430,0,273 1 207495427 rs7533852 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000314754.12,ENST00000367067.8,ENST00000367063.6,ENST00000391921.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3512;1000g2015aug_sas=0.3834;1000g2015aug_eur=0.4722;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.5058;1000g2015aug_all=0.388179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 207496129 rs4844590 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000391921.8,ENST00000314754.12,ENST00000367067.8,ENST00000367063.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.1671;1000g2015aug_all=0.160942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 207500293 rs4844591 C T 696.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000367063.6,ENST00000367067.8,ENST00000314754.12,ENST00000391921.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.7032;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:725,57,0 1 207504669 rs2184476 G A 1217.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=1.949;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000391921.8,ENST00000367063.6,ENST00000367067.8,ENST00000314754.12;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2184476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.7032;1000g2015aug_all=0.621406;esp6500siv2_all=0.7035;ExAC_ALL=0.6672;ExAC_AFR=0.6857;ExAC_AMR=0.6518;ExAC_EAS=0.4141;ExAC_FIN=0.7568;ExAC_NFE=0.7105;ExAC_OTH=0.6938;ExAC_SAS=0.5867;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1246,108,0 1 207504748 rs1507757 C A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000314754.12,ENST00000367067.8,ENST00000367063.6,ENST00000391921.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e298\x3bName\x3e"366736:Charlie4z(DNA)";avsnp150=rs1507757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.7032;1000g2015aug_all=0.621406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 207510289 rs2490257 T C 131.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314754.12,ENST00000367067.8,ENST00000367063.6,ENST00000391921.8,ENST00000367064.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2490257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9781;1000g2015aug_amr=0.9986;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.996;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.909;phyloP20way_mammalian=-1.061;SiPhy_29way_logOdds=2.167;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:160,15,0 1 207510548 rs10746462 A G 384.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000314754.12,ENST00000367067.8,ENST00000367063.6,ENST00000391921.8,ENST00000367064.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.7032;1000g2015aug_all=0.621605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.063;phyloP20way_mammalian=-0.804;SiPhy_29way_logOdds=5.270;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:413,33,0 1 207510596 rs10746463 G A 1001.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.71;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300902,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000367063.6,ENST00000367067.8,ENST00000314754.12,ENST00000391921.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4107;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.7032;1000g2015aug_all=0.621605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-2.507;phyloP20way_mammalian=-1.356;SiPhy_29way_logOdds=6.054;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1030,84,0 1 207520376 rs2404781 T C 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.392;DP=18;ExcessHet=3.0103;FS=2.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.47;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367064.7,ENST00000391921.8,ENST00000367067.8,ENST00000314754.12;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e14043\x3bName\x3e"366749:L1MA4A(LINE)";avsnp150=rs2404781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.1671;1000g2015aug_all=0.160942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:281,0,163 1 207527285 rs11120753 G A 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.082;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.503;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD55;Func=intronic;Gene=NM_000574,NM_001114752,NM_001300903,NM_001300904;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391921.8,ENST00000314754.12,ENST00000367067.8,ENST00000367064.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0595;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.2704;1000g2015aug_afr=0.3608;1000g2015aug_amr=0.1888;1000g2015aug_all=0.220647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:259,0,405 1 207627693 rs3813946 T C 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-1.44;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=UTR5;Gene=NM_001006658,NM_001877;GeneDetail=NM_001006658:c.-71T>C\x3bNM_001877:c.-71T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367057.7,ENST00000367059.3,ENST00000367058.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3813946;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.2008;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.1311;1000g2015aug_all=0.130791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:64:185,0,64 1 207639695 rs311311 C G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs311311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8909;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.7867;1000g2015aug_all=0.709864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 207640345 rs1032980 G T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.96;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1032980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8909;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.5371;1000g2015aug_amr=0.7954;1000g2015aug_all=0.729832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 207641840 rs2063143 C T 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=-1.803;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367057.7,ENST00000367059.3,ENST00000367058.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2063143;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.0794;1000g2015aug_amr=0.1354;1000g2015aug_all=0.131989;esp6500siv2_all=0.1694;ExAC_ALL=0.1728;ExAC_AFR=0.0892;ExAC_AMR=0.1166;ExAC_EAS=0.1152;ExAC_FIN=0.1663;ExAC_NFE=0.2047;ExAC_OTH=0.2002;ExAC_SAS=0.1647;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:223,0,98 1 207642295 rs1507764 G A 566.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.901;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=0.972;SOR=0.678;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1507764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1062;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.18;1000g2015aug_amr=0.1513;1000g2015aug_all=0.161342;esp6500siv2_all=0.1944;ExAC_ALL=0.1781;ExAC_AFR=0.1630;ExAC_AMR=0.1191;ExAC_EAS=0.1139;ExAC_FIN=0.1653;ExAC_NFE=0.2034;ExAC_OTH=0.2022;ExAC_SAS=0.1629;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,19:34:99:595,0,456 1 207643673 rs568515 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.253;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367059.3,ENST00000367057.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs568515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.4244;1000g2015aug_amr=0.2017;1000g2015aug_all=0.258387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 207644262 rs372838534 G A 953.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.019;DP=56;ExcessHet=3.0103;FS=1.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=1.275;SOR=1.018;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=splicing;Gene=NM_001006658,NM_001877;GeneDetail=NM_001006658:exon7:c.1402+1G>A\x3bNM_001877:exon7:c.1402+1G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs372838534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=7.7e-05;ExAC_ALL=2.479e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.507e-05;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=3.547;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=13.601;gerp++gt2=4.57;CADD=4.907;CADD_Phred=24.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,34:56:99:982,0,566 1 207646322 rs1048971 G A 960.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.116;DP=88;ExcessHet=3.0103;FS=1.766;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.064;SOR=0.924;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=exonic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CR2:NM_001006658:exon10:c.G1776A:p.L592L,CR2:NM_001877:exon10:c.G1776A:p.L592L;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048971;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.2666;1000g2015aug_all=0.400359;esp6500siv2_all=0.4684;ExAC_ALL=0.3505;ExAC_AFR=0.6981;ExAC_AMR=0.2233;ExAC_EAS=0.2167;ExAC_FIN=0.3060;ExAC_NFE=0.3561;ExAC_OTH=0.3717;ExAC_SAS=0.2836;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,37:87:99:989,0,1336 1 207646462 rs17615 G A 940.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.234;DP=60;ExcessHet=3.0103;FS=0.989;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.379;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=exonic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR2:NM_001006658:exon10:c.G1916A:p.S639N,CR2:NM_001877:exon10:c.G1916A:p.S639N;Gencode=Name\x3eENST00000367058.7,ENST00000367059.3,ENST00000367057.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17615;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.4251;1000g2015aug_amr=0.2017;1000g2015aug_all=0.258387;esp6500siv2_all=0.3374;ExAC_ALL=0.2704;ExAC_AFR=0.3814;ExAC_AMR=0.1613;ExAC_EAS=0.1121;ExAC_FIN=0.2333;ExAC_NFE=0.3091;ExAC_OTH=0.2775;ExAC_SAS=0.2176;SIFT_score=0.251;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.246;MutationTaster_pred=P;MutationAssessor_score=1.975;MutationAssessor_pred=M;FATHMM_score=-0.22;FATHMM_pred=T;phyloP100way_vertebrate=0.364;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=11.288;gerp++gt2=4.8;CADD=4.590;CADD_Phred=24.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,33:60:99:969,0,777 1 207646898 rs4308977 T C 466.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.643;DP=40;ExcessHet=3.0103;FS=1.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.483;SOR=1.015;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=exonic;Gene=NM_001006658;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR2:NM_001006658:exon11:c.T1987C:p.S663P;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4308977;cosmic70=.;CLNALLELEID=389349;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1984;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.5356;1000g2015aug_amr=0.2089;1000g2015aug_all=0.289537;esp6500siv2_all=0.3771;ExAC_ALL=0.2810;ExAC_AFR=0.4946;ExAC_AMR=0.1676;ExAC_EAS=0.1124;ExAC_FIN=0.2306;ExAC_NFE=0.3072;ExAC_OTH=0.2819;ExAC_SAS=0.2278;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.02;FATHMM_pred=T;phyloP100way_vertebrate=-1.334;phyloP20way_mammalian=-0.082;SiPhy_29way_logOdds=7.633;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,18:40:99:495,0,594 1 207646923 rs17616 G A 448.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.031;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.673;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=exonic;Gene=NM_001006658;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR2:NM_001006658:exon11:c.G2012A:p.R671H;Gencode=Name\x3eENST00000367058.7,ENST00000367057.7,ENST00000367059.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17616;cosmic70=.;CLNALLELEID=389373;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.2017;1000g2015aug_all=0.257588;esp6500siv2_all=0.3367;ExAC_ALL=0.2686;ExAC_AFR=0.3809;ExAC_AMR=0.1614;ExAC_EAS=0.1122;ExAC_FIN=0.2306;ExAC_NFE=0.3061;ExAC_OTH=0.2764;ExAC_SAS=0.2176;SIFT_score=0.191;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.674;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;phyloP100way_vertebrate=-2.147;phyloP20way_mammalian=-2.196;SiPhy_29way_logOdds=9.186;gerp++gt2=.;CADD=2.590;CADD_Phred=20.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,19:43:99:477,0,703 1 207653106 rs2182909 A C 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367058.7,ENST00000367059.3,ENST00000367057.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2182909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.1816;1000g2015aug_all=0.200479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 207653178 rs12032512 C G 157.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.976;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367059.3,ENST00000367057.7,ENST00000367058.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12032512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.4877;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.4078;1000g2015aug_all=0.383786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:186,0,142 1 207653395 rs17617 C A 670.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=exonic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR2:NM_001877:exon17:c.C3008A:p.A1003E,CR2:NM_001006658:exon18:c.C3185A:p.A1062E;Gencode=Name\x3eENST00000367059.3,ENST00000367057.7,ENST00000367058.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17617;cosmic70=.;CLNALLELEID=389350;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.837;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9121;1000g2015aug_all=0.942891;esp6500siv2_all=0.8788;ExAC_ALL=0.8835;ExAC_AFR=0.9768;ExAC_AMR=0.9190;ExAC_EAS=0.9999;ExAC_FIN=0.8589;ExAC_NFE=0.8401;ExAC_OTH=0.8816;ExAC_SAS=0.9243;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=1.59;FATHMM_pred=T;phyloP100way_vertebrate=-0.173;phyloP20way_mammalian=-0.161;SiPhy_29way_logOdds=0.278;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:699,69,0 1 207653444 rs17258996 T A 99.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.057;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=-0.422;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR2;Func=intronic;Gene=NM_001006658,NM_001877;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367057.7,ENST00000367059.3,ENST00000367058.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17258996;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1081;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.1311;1000g2015aug_all=0.125399;esp6500siv2_all=0.1648;ExAC_ALL=0.1687;ExAC_AFR=0.0740;ExAC_AMR=0.1132;ExAC_EAS=0.1138;ExAC_FIN=0.1658;ExAC_NFE=0.2020;ExAC_OTH=0.1998;ExAC_SAS=0.1614;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,6:18:99:128,0,311 1 207676768 rs9429945 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400960.6,ENST00000367053.5,ENST00000367051.5,ENST00000367049.8,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2122\x3bName\x3e"367043:MLT1D(LTR)";avsnp150=rs9429945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7252;1000g2015aug_sas=0.8344;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.889;1000g2015aug_all=0.835264;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 207679307 rs4844600 A G 3124.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CR1:NM_000573:exon2:c.A180G:p.E60E,CR1:NM_000651:exon2:c.A180G:p.E60E;Gencode=Name\x3eENST00000367051.5,ENST00000367049.8,ENST00000367053.5,ENST00000400960.6,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207676113;Repeat=.;avsnp150=rs4844600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6488;1000g2015aug_sas=0.9202;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.9078;1000g2015aug_all=0.850439;esp6500siv2_all=0.8493;ExAC_ALL=0.8217;ExAC_AFR=0.9368;ExAC_AMR=0.9096;ExAC_EAS=0.6336;ExAC_FIN=0.8010;ExAC_NFE=0.7984;ExAC_OTH=0.8073;ExAC_SAS=0.8931;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,99:99:99:3153,297,0 1 207680070 rs11587944 C T 801.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.569;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.687;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1:NM_000573:exon3:c.C313T:p.R105C,CR1:NM_000651:exon3:c.C313T:p.R105C;Gencode=Name\x3eENST00000367051.5,ENST00000367049.8,ENST00000367053.5,ENST00000400960.6,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207676113;Repeat=.;avsnp150=rs11587944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00399361;esp6500siv2_all=0.0081;ExAC_ALL=0.0076;ExAC_AFR=0.0015;ExAC_AMR=0.0029;ExAC_EAS=0.0001;ExAC_FIN=0.0123;ExAC_NFE=0.0109;ExAC_OTH=0.0100;ExAC_SAS=0.0031;SIFT_score=0.043;SIFT_pred=D;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.889;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=1.83;MutationAssessor_pred=L;FATHMM_score=-0.18;FATHMM_pred=T;phyloP100way_vertebrate=-2.314;phyloP20way_mammalian=-0.254;SiPhy_29way_logOdds=6.726;gerp++gt2=.;CADD=2.628;CADD_Phred=20.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,32:54:99:830,0,552 1 207751143 rs114610598 T G 1052.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.217;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.9;MQRankSum=-1.024;QD=12.24;ReadPosRankSum=-0.082;SOR=0.642;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000623503.1,ENST00000367052.5,ENST00000367053.5,ENST00000400960.6,ENST00000367049.8,ENST00000367051.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.914832\x3bName\x3echr1:207694348;Repeat=.;avsnp150=rs114610598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0133786;esp6500siv2_all=0.0197;ExAC_ALL=0.0256;ExAC_AFR=0.0050;ExAC_AMR=0.0508;ExAC_EAS=0.0006;ExAC_FIN=0.0550;ExAC_NFE=0.0289;ExAC_OTH=0.0236;ExAC_SAS=0.0078;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,41:86:99:1081,0,1234 1 207753275 rs614709 T C 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-0.366;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5,ENST00000367052.5,ENST00000623503.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.914832\x3bName\x3echr1:207694348;Repeat=.;avsnp150=rs614709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.498;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.857;1000g2015aug_amr=0.3617;1000g2015aug_all=0.485024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 207753345 rs2274566 C T 200.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.514;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.635;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000623503.1,ENST00000400960.6,ENST00000367053.5,ENST00000367049.8,ENST00000367051.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.914832\x3bName\x3echr1:207694348;Repeat=.;avsnp150=rs2274566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3542;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.5591;1000g2015aug_all=0.382788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:229,0,332 1 207757936 rs646817 A G 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.537;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.323;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000623503.1,ENST00000400960.6,ENST00000367053.5,ENST00000367049.8,ENST00000367051.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs646817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.3573;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,14:32:99:476,0,585 1 207758232 rs1752688 A G 2447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.545;DP=160;ExcessHet=3.0103;FS=7.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.703;SOR=0.332;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000623503.1,ENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1752688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.2247;1000g2015aug_afr=0.8608;1000g2015aug_amr=0.3573;1000g2015aug_all=0.484824;esp6500siv2_all=0.3818;ExAC_ALL=0.3256;ExAC_AFR=0.7790;ExAC_AMR=0.4036;ExAC_EAS=0.2812;ExAC_FIN=0.2428;ExAC_NFE=0.2326;ExAC_OTH=0.2779;ExAC_SAS=0.4362;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:68,92:160:99:2476,0,1846 1 207782769 rs41274768 G A 1294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.847;DP=82;ExcessHet=3.0103;FS=1.826;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-1.266;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1:NM_000573:exon29:c.G4681A:p.V1561M,CR1:NM_000651:exon37:c.G6031A:p.V2011M;Gencode=Name\x3eENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41274768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.036;1000g2015aug_all=0.0131789;esp6500siv2_all=0.0192;ExAC_ALL=0.0249;ExAC_AFR=0.0049;ExAC_AMR=0.0496;ExAC_EAS=0.0007;ExAC_FIN=0.0549;ExAC_NFE=0.0279;ExAC_OTH=0.0234;ExAC_SAS=0.0077;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.768;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.318;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.54;MutationAssessor_pred=M;FATHMM_score=-0.15;FATHMM_pred=T;phyloP100way_vertebrate=0.033;phyloP20way_mammalian=-0.310;SiPhy_29way_logOdds=4.813;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,46:82:99:1323,0,851 1 207782916 rs4844609 A T 2191.77 PASS AC=2;AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=1.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1:NM_000573:exon29:c.A4828T:p.T1610S,CR1:NM_000651:exon37:c.A6178T:p.T2060S;Gencode=Name\x3eENST00000367052.5,ENST00000400960.6,ENST00000367053.5,ENST00000367051.5,ENST00000367049.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844609;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9801;1000g2015aug_afr=1;1000g2015aug_amr=0.9942;1000g2015aug_all=0.995008;esp6500siv2_all=0.9815;ExAC_ALL=0.9853;ExAC_AFR=0.9958;ExAC_AMR=0.9945;ExAC_EAS=1;ExAC_FIN=0.9855;ExAC_NFE=0.9777;ExAC_OTH=0.9832;ExAC_SAS=0.9960;SIFT_score=0.804;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.01;FATHMM_pred=T;phyloP100way_vertebrate=-0.871;phyloP20way_mammalian=0.102;SiPhy_29way_logOdds=4.924;gerp++gt2=2.54;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,65:65:99:2220,195,0 1 207782931 rs6691117 A G 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.112;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-0.234;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1:NM_000573:exon29:c.A4843G:p.I1615V,CR1:NM_000651:exon37:c.A6193G:p.I2065V;Gencode=Name\x3eENST00000367052.5,ENST00000400960.6,ENST00000367053.5,ENST00000367051.5,ENST00000367049.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6691117;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3433;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.3761;1000g2015aug_all=0.493411;esp6500siv2_all=0.3843;ExAC_ALL=0.3341;ExAC_AFR=0.7892;ExAC_AMR=0.4232;ExAC_EAS=0.3014;ExAC_FIN=0.2533;ExAC_NFE=0.2362;ExAC_OTH=0.2920;ExAC_SAS=0.4441;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.975;MutationAssessor_pred=N;FATHMM_score=0.17;FATHMM_pred=T;phyloP100way_vertebrate=1.964;phyloP20way_mammalian=0.089;SiPhy_29way_logOdds=5.531;gerp++gt2=2.54;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,37:57:99:985,0,513 1 207784968 rs3818361 A G 673.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207712460;Repeat=.;avsnp150=rs3818361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAlzheimer's_disease;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.8161;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.8919;1000g2015aug_all=0.751398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:702,66,0 1 207791140 rs56216545 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367052.5,ENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207712460;Repeat=.;avsnp150=rs56216545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.036;1000g2015aug_all=0.0127796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 207795320 rs2296160 A G 653.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=exonic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1:NM_000573:exon36:c.A5905G:p.T1969A,CR1:NM_000651:exon44:c.A7255G:p.T2419A;Gencode=Name\x3eENST00000367051.5,ENST00000367049.8,ENST00000367053.5,ENST00000400960.6,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917733\x3bName\x3echr1:207722645;Repeat=.;avsnp150=rs2296160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.9284;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.8162;1000g2015aug_amr=0.9207;1000g2015aug_all=0.828075;esp6500siv2_all=0.8170;ExAC_ALL=0.8159;ExAC_AFR=0.8092;ExAC_AMR=0.9082;ExAC_EAS=0.6571;ExAC_FIN=0.8056;ExAC_NFE=0.8016;ExAC_OTH=0.8242;ExAC_SAS=0.9039;SIFT_score=0.987;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=1.61;FATHMM_pred=T;phyloP100way_vertebrate=-3.998;phyloP20way_mammalian=-3.670;SiPhy_29way_logOdds=0.423;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:682,66,0 1 207803821 rs114995634 A G 592.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.48;DP=49;ExcessHet=3.0103;FS=1.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.304;SOR=0.504;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367052.5,ENST00000367051.5,ENST00000367049.8,ENST00000367053.5,ENST00000400960.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114995634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.036;1000g2015aug_all=0.0131789;esp6500siv2_all=0.0196;ExAC_ALL=0.0323;ExAC_AFR=0.0065;ExAC_AMR=0.0845;ExAC_EAS=0.0011;ExAC_FIN=0.0631;ExAC_NFE=0.0370;ExAC_OTH=0.0333;ExAC_SAS=0.0097;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,22:48:99:621,0,725 1 207804030 rs80343690 G A 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.237;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.462;SOR=0.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367052.5,ENST00000367049.8,ENST00000367051.5,ENST00000400960.6,ENST00000367053.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80343690;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0338;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.036;1000g2015aug_all=0.0131789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:721,0,717 1 207804141 rs1408077 A C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.75;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1;Func=intronic;Gene=NM_000573,NM_000651;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367053.5,ENST00000400960.6,ENST00000367049.8,ENST00000367051.5,ENST00000367052.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1408077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8211;1000g2015aug_afr=0.9266;1000g2015aug_amr=0.9222;1000g2015aug_all=0.858826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 207818719 rs11118237 G A 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.331;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.42;ReadPosRankSum=0.623;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11118237;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.2896;1000g2015aug_all=0.292532;esp6500siv2_all=0.3386;ExAC_ALL=0.3580;ExAC_AFR=0.2035;ExAC_AMR=0.3532;ExAC_EAS=0.3115;ExAC_FIN=0.3655;ExAC_NFE=0.3962;ExAC_OTH=0.3692;ExAC_SAS=0.3221;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,11:35:99:218,0,624 1 207850539 rs11118328 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=Score\x3e2098\x3bName\x3e"367350:AluSx1(SINE)";avsnp150=rs11118328;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9683;1000g2015aug_sas=0.9407;1000g2015aug_eur=0.8082;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.8905;1000g2015aug_all=0.924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 207850560 rs67422482 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=Score\x3e2098\x3bName\x3e"367350:AluSx1(SINE)";avsnp150=rs67422482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.3109;1000g2015aug_amr=0.304;1000g2015aug_all=0.331669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 207850589 rs34451130 A C 146.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.03;QD=31.83;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=Score\x3e2098\x3bName\x3e"367350:AluSx1(SINE)";avsnp150=rs34451130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.304;1000g2015aug_all=0.33147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 1 207851361 rs12125256 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.48;MQRankSum=-1.068;QD=16.82;ReadPosRankSum=0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs12125256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.304;1000g2015aug_all=0.331869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 207851554 rs72468037 C T 823.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.316;DP=60;ExcessHet=3.0103;FS=1.022;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=0;QD=13.96;ReadPosRankSum=0;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon3:c.C289T:p.R97C;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs72468037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1288;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.013;1000g2015aug_all=0.0397364;esp6500siv2_all=0.0388;ExAC_ALL=0.0513;ExAC_AFR=0.0087;ExAC_AMR=0.0103;ExAC_EAS=0.0138;ExAC_FIN=0.0714;ExAC_NFE=0.0523;ExAC_OTH=0.0590;ExAC_SAS=0.1122;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.849;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=2.16;MutationAssessor_pred=M;FATHMM_score=-0.18;FATHMM_pred=T;phyloP100way_vertebrate=-3.153;phyloP20way_mammalian=-0.778;SiPhy_29way_logOdds=6.016;gerp++gt2=.;CADD=2.437;CADD_Phred=19.06;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,32:59:99:852,0,768 1 207851611 rs2296158 A G 2393.77 PASS AC=2;AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.92;QD=30.3;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon3:c.A346G:p.R116G;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs2296158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.492;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.379;1000g2015aug_all=0.526558;esp6500siv2_all=0.5087;ExAC_ALL=0.5171;ExAC_AFR=0.455;ExAC_AMR=0.4139;ExAC_EAS=0.6917;ExAC_FIN=0.4763;ExAC_NFE=0.5146;ExAC_OTH=0.5156;ExAC_SAS=0.5614;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-3.12;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_pred=T;phyloP100way_vertebrate=2.068;phyloP20way_mammalian=-0.080;SiPhy_29way_logOdds=5.862;gerp++gt2=2.73;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,79:79:99:2422,236,0 1 207851760 rs2296159 G A 545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.636;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.29;ReadPosRankSum=1.466;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs2296159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.304;1000g2015aug_all=0.33147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,16:20:99:574,0,106 1 207857158 rs12411037 T C 331.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.711;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.43;ReadPosRankSum=1.201;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs12411037;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.3787;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.2925;1000g2015aug_all=0.297923;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:360,0,240 1 207857254 rs3085 A G 339.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.152;DP=46;ExcessHet=3.0103;FS=2.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.649;SOR=1.019;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon4:c.A415G:p.I139V;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs3085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.271;1000g2015aug_eur=0.1083;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0648;1000g2015aug_all=0.161142;esp6500siv2_all=0.0882;ExAC_ALL=0.1390;ExAC_AFR=0.0320;ExAC_AMR=0.0520;ExAC_EAS=0.3797;ExAC_FIN=0.1109;ExAC_NFE=0.1168;ExAC_OTH=0.1425;ExAC_SAS=0.2385;SIFT_score=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.066;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.86;MutationAssessor_pred=L;FATHMM_score=1.9;FATHMM_pred=T;phyloP100way_vertebrate=-3.647;phyloP20way_mammalian=-1.467;SiPhy_29way_logOdds=5.644;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,17:46:99:368,0,806 1 207867646 rs75657969 G A 836.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.392;DP=68;ExcessHet=3.0103;FS=1.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.687;SOR=0.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs75657969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.013;1000g2015aug_all=0.0395367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,33:68:99:865,0,1053 1 207867854 rs41303261 G A 1355.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.391;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1;QD=13.04;ReadPosRankSum=0.384;SOR=0.706;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon5:c.G620A:p.C207Y;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs41303261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0393371;esp6500siv2_all=0.0386;ExAC_ALL=0.0512;ExAC_AFR=0.0087;ExAC_AMR=0.0103;ExAC_EAS=0.0134;ExAC_FIN=0.0712;ExAC_NFE=0.0523;ExAC_OTH=0.0590;ExAC_SAS=0.1120;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=N;MutationAssessor_score=4.715;MutationAssessor_pred=H;FATHMM_score=-3.51;FATHMM_pred=D;phyloP100way_vertebrate=4.669;phyloP20way_mammalian=0.733;SiPhy_29way_logOdds=8.284;gerp++gt2=2.38;CADD=3.256;CADD_Phred=22.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,51:104:99:1384,0,1492 1 207868022 rs72468038 G T 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.189;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.37;MQRankSum=-2.318;QD=14.19;ReadPosRankSum=0.165;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon5:c.G788T:p.G263V;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs72468038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.013;1000g2015aug_all=0.0395367;esp6500siv2_all=0.0384;ExAC_ALL=0.0512;ExAC_AFR=0.0087;ExAC_AMR=0.0103;ExAC_EAS=0.0135;ExAC_FIN=0.0712;ExAC_NFE=0.0523;ExAC_OTH=0.0592;ExAC_SAS=0.1119;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=N;MutationAssessor_score=-1.765;MutationAssessor_pred=N;FATHMM_score=0.07;FATHMM_pred=T;phyloP100way_vertebrate=-0.416;phyloP20way_mammalian=-0.058;SiPhy_29way_logOdds=2.546;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:681,0,618 1 207868205 rs41308427 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs41308427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.013;1000g2015aug_all=0.0395367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 207872507 rs41313728 G A 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.74;MQRankSum=-2.659;QD=8.76;ReadPosRankSum=-0.111;SOR=0.202;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs41313728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.273;1000g2015aug_eur=0.1113;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.0821;1000g2015aug_all=0.211661;esp6500siv2_all=0.1362;ExAC_ALL=0.1532;ExAC_AFR=0.1841;ExAC_AMR=0.0589;ExAC_EAS=0.3831;ExAC_FIN=0.1109;ExAC_NFE=0.1185;ExAC_OTH=0.1491;ExAC_SAS=0.2381;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,8:26:99:256,0,674 1 207874739 rs34828104 C G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.49;MQRankSum=0;QD=20.18;ReadPosRankSum=0.687;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs34828104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.2262;1000g2015aug_all=0.323283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:331,0,205 1 207881489 rs35438924 T G 556.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.105;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.193;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs35438924;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.4755;1000g2015aug_all=0.705671;esp6500siv2_all=.;ExAC_ALL=0.6073;ExAC_AFR=0.7412;ExAC_AMR=0.4751;ExAC_EAS=0.8779;ExAC_FIN=0.4962;ExAC_NFE=0.5609;ExAC_OTH=0.6303;ExAC_SAS=0.7100;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,16:51:99:585,0,1970 1 207881491 rs34277355 C A 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.105;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.203;SOR=0.544;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs34277355;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.7769;1000g2015aug_amr=0.4755;1000g2015aug_all=0.705671;esp6500siv2_all=0.58;ExAC_ALL=0.6074;ExAC_AFR=0.7413;ExAC_AMR=0.4754;ExAC_EAS=0.8778;ExAC_FIN=0.4964;ExAC_NFE=0.5610;ExAC_OTH=0.6303;ExAC_SAS=0.7100;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,16:51:99:566,0,1936 1 207881557 rs6683902 A G 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.052;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.628;SOR=0.556;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon10:c.A1363G:p.I455V;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs6683902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.4755;1000g2015aug_all=0.705272;esp6500siv2_all=0.6173;ExAC_ALL=0.6086;ExAC_AFR=0.7405;ExAC_AMR=0.4772;ExAC_EAS=0.8791;ExAC_FIN=0.4974;ExAC_NFE=0.5624;ExAC_OTH=0.6303;ExAC_SAS=0.7115;SIFT_score=0.956;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.5;MutationAssessor_pred=N;FATHMM_score=1.91;FATHMM_pred=T;phyloP100way_vertebrate=-1.243;phyloP20way_mammalian=-2.380;SiPhy_29way_logOdds=3.512;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:376,0,641 1 207882401 rs6540439 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs6540439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9931;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.9448;1000g2015aug_amr=0.6974;1000g2015aug_all=0.860623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 207883907 rs3927459 T G 601.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.862;DP=46;ExcessHet=3.0103;FS=2.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.717;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs3927459;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8829;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.4841;1000g2015aug_all=0.737819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,21:46:99:630,0,667 1 207884105 rs10779386 C A 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-1.981;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs10779386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.5807;1000g2015aug_all=0.728035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:198,0,239 1 207884107 rs10779387 G A 169.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.241;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-2.26;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.917055\x3bName\x3echr1:207504628;Repeat=.;avsnp150=rs10779387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.7526;1000g2015aug_amr=0.5807;1000g2015aug_all=0.728035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:198,0,239 1 207886150 rs1359147 C T 1067.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.492;DP=126;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.401;SOR=0.503;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.914832\x3bName\x3echr1:207560734;Repeat=.;avsnp150=rs1359147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.4741;1000g2015aug_all=0.695887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,47:126:99:1096,0,2153 1 207886424 rs144864106 A G 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.605;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.525;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207611610;Repeat=.;avsnp150=rs144864106;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.046;1000g2015aug_eur=0.0417;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0223642;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:183,0,222 1 207886487 rs1998538 A G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207611610;Repeat=.;avsnp150=rs1998538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.7372;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.4741;1000g2015aug_all=0.696086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,81 1 207888760 rs2796261 C T 232.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.642;DP=28;ExcessHet=3.0103;FS=3.771;MLEAC=1;MLEAF=0.5;MQ=58.65;MQRankSum=-2.498;QD=8.62;ReadPosRankSum=0.026;SOR=1.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=intronic;Gene=NM_175710;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207611610;Repeat=.;avsnp150=rs2796261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.4394;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.5259;1000g2015aug_all=0.303514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,9:27:99:261,0,500 1 207890866 rs2796257 T C 2072.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.418;DP=176;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.28;MQRankSum=2.256;QD=11.78;ReadPosRankSum=0.363;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon11:c.T1472C:p.L491P;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207611610;Repeat=.;avsnp150=rs2796257;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.1362;1000g2015aug_amr=0.5115;1000g2015aug_all=0.26897;esp6500siv2_all=0.3516;ExAC_ALL=0.3834;ExAC_AFR=0.1752;ExAC_AMR=0.5213;ExAC_EAS=0.1215;ExAC_FIN=0.4888;ExAC_NFE=0.4371;ExAC_OTH=0.3630;ExAC_SAS=0.2888;SIFT_score=0.285;SIFT_pred=T;Polyphen2_HDIV_score=0.907;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.808;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.185;MutationAssessor_pred=M;FATHMM_score=1.89;FATHMM_pred=T;phyloP100way_vertebrate=0.611;phyloP20way_mammalian=-0.735;SiPhy_29way_logOdds=2.840;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:97,79:176:99:2101,0,2581 1 207890892 rs116455739 G A 2819.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.569;DP=202;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.09;MQRankSum=-3.303;QD=14.03;ReadPosRankSum=0.343;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCR1L;Func=exonic;Gene=NM_175710;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CR1L:NM_175710:exon11:c.G1498A:p.V500I;Gencode=Name\x3eENST00000508064.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.910833\x3bName\x3echr1:207611610;Repeat=.;avsnp150=rs116455739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.0547;1000g2015aug_afr=0.003;1000g2015aug_amr=0.0317;1000g2015aug_all=0.0297524;esp6500siv2_all=0.0459;ExAC_ALL=0.0489;ExAC_AFR=0.0104;ExAC_AMR=0.0243;ExAC_EAS=0.0067;ExAC_FIN=0.0553;ExAC_NFE=0.0607;ExAC_OTH=0.0468;ExAC_SAS=0.0608;SIFT_score=0.297;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.048;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=-0.32;FATHMM_pred=T;phyloP100way_vertebrate=-2.426;phyloP20way_mammalian=-2.481;SiPhy_29way_logOdds=8.581;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,108:201:99:2848,0,2592 1 207931175 rs2466573 T G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD46;Func=intronic;Gene=NM_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172359,NM_172361;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357714.5,ENST00000367041.5,ENST00000358170.6,ENST00000322875.8,ENST00000322918.9,ENST00000480003.5,ENST00000367042.5,ENST00000367047.5,ENST00000360212.6,ENST00000354848.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.911553\x3bName\x3echr1:207652063;Repeat=.;avsnp150=rs2466573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9971;1000g2015aug_all=0.992412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 207934553 rs41258244 A T 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.18;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD46;Func=intronic;Gene=NM_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172359,NM_172361;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000322918.9,ENST00000357714.5,ENST00000367041.5,ENST00000358170.6,ENST00000322875.8,ENST00000360212.6,ENST00000354848.5,ENST00000480003.5,ENST00000367042.5,ENST00000367047.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.911553\x3bName\x3echr1:207652063;Repeat=Score\x3e11\x3bName\x3e"367490:(TCTTTT)n(Simple_repeat)";avsnp150=rs41258244;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0616;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.036;1000g2015aug_all=0.028754;esp6500siv2_all=0.0462;ExAC_ALL=0.0598;ExAC_AFR=0.0150;ExAC_AMR=0.0441;ExAC_EAS=0.0080;ExAC_FIN=0.0624;ExAC_NFE=0.0794;ExAC_OTH=0.0483;ExAC_SAS=0.0550;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 207941191 rs2724374 G T 267.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD46;Func=intronic;Gene=NM_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172359,NM_172361;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000480003.5,ENST00000367042.5,ENST00000367047.5,ENST00000360212.6,ENST00000354848.5,ENST00000358170.6,ENST00000322875.8,ENST00000357714.5,ENST00000367041.5,ENST00000322918.9;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2724374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9901;1000g2015aug_sas=0.8579;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.7844;1000g2015aug_amr=0.719;1000g2015aug_all=0.833067;esp6500siv2_all=0.7891;ExAC_ALL=0.8005;ExAC_AFR=0.7930;ExAC_AMR=0.6910;ExAC_EAS=0.9953;ExAC_FIN=0.7790;ExAC_NFE=0.7877;ExAC_OTH=0.8190;ExAC_SAS=0.8395;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:296,24,0 1 207956559 rs1962149 G A 938.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD46;Func=intronic;Gene=NM_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172359,NM_172361;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367042.5,ENST00000480003.5,ENST00000367047.5,ENST00000360212.6,ENST00000354848.5,ENST00000358170.6,ENST00000322875.8,ENST00000357714.5,ENST00000367041.5,ENST00000322918.9;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1962149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.5043;1000g2015aug_all=0.292732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:967,81,0 1 207958446 rs35366573 C T 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.344;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD46;Func=exonic;Gene=NM_002389,NM_153826,NM_172350,NM_172351,NM_172352,NM_172353,NM_172359,NM_172361;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CD46:NM_172361:exon8:c.C926T:p.A309V,CD46:NM_172350:exon9:c.C968T:p.A323V,CD46:NM_172352:exon9:c.C968T:p.A323V,CD46:NM_172353:exon9:c.C968T:p.A323V,CD46:NM_153826:exon10:c.C1013T:p.A338V,CD46:NM_172351:exon10:c.C1013T:p.A338V,CD46:NM_002389:exon11:c.C1058T:p.A353V,CD46:NM_172359:exon11:c.C1058T:p.A353V;Gencode=Name\x3eENST00000322918.9,ENST00000367041.5,ENST00000357714.5,ENST00000322875.8,ENST00000358170.6,ENST00000354848.5,ENST00000360212.6,ENST00000367047.5,ENST00000480003.5,ENST00000367042.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35366573;cosmic70=ID\x3eCOSM33621\x3bOCCURENCE\x3e1(large_intestine);CLNALLELEID=278736;CLNDN=Atypical_hemolytic_uremic_syndrome;CLNDISDB=MedGen:C2931788,Orphanet:ORPHA2134;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0179;1000g2015aug_afr=0.0015;1000g2015aug_amr=.;1000g2015aug_all=0.00399361;esp6500siv2_all=0.0125;ExAC_ALL=0.0153;ExAC_AFR=0.0026;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0602;ExAC_NFE=0.0206;ExAC_OTH=0.0171;ExAC_SAS=0.0016;SIFT_score=0.469;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.784;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.77;MutationAssessor_pred=N;FATHMM_score=0.54;FATHMM_pred=T;phyloP100way_vertebrate=-4.385;phyloP20way_mammalian=-1.090;SiPhy_29way_logOdds=8.064;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:164,0,223 1 207992546 rs12123251 G A 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.314;DP=23;ExcessHet=3.0103;FS=4.33;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.291;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC148696;Func=ncRNA_exonic;Gene=NR_026817;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608023.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12123251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.33;1000g2015aug_afr=0.1967;1000g2015aug_amr=0.4582;1000g2015aug_all=0.242812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:231,0,421 1 208062471 rs2073070 A C 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.036;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.957;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD34;Func=intronic;Gene=NM_001025109,NM_001773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367036.7,ENST00000356522.4,ENST00000310833.11;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2073070;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.3501;1000g2015aug_all=0.278954;esp6500siv2_all=0.2467;ExAC_ALL=0.2924;ExAC_AFR=0.1784;ExAC_AMR=0.3798;ExAC_EAS=0.3587;ExAC_FIN=0.3103;ExAC_NFE=0.2767;ExAC_OTH=0.2974;ExAC_SAS=0.3241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,12:22:99:295,0,238 1 208071105 rs3738460 A G 85.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.057;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.687;SOR=0.069;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD34;Func=intronic;Gene=NM_001025109,NM_001773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310833.11,ENST00000356522.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738460;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.09;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0830671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:114,0,140 1 208072738 rs2724369 A C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCD34;Func=intronic;Gene=NM_001025109,NM_001773;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310833.11,ENST00000356522.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2724369;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.8896;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.7595;1000g2015aug_amr=0.9597;1000g2015aug_all=0.898363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 208201070 rs657778 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs657778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.987;1000g2015aug_all=0.950679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 208206946 rs6702082 C G 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.743;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.489;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.2176;1000g2015aug_all=0.148163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:233,0,164 1 208207045 rs1193090 T C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1193090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.9885;1000g2015aug_all=0.953674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 208207839 rs3736963 G A 1325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.961;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=0.666;SOR=0.601;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=exonic;Gene=NM_025179;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLXNA2:NM_025179:exon27:c.C4863T:p.Y1621Y;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2579;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.5401;1000g2015aug_amr=0.4539;1000g2015aug_all=0.442692;esp6500siv2_all=0.5667;ExAC_ALL=0.5120;ExAC_AFR=0.5523;ExAC_AMR=0.4250;ExAC_EAS=0.2590;ExAC_FIN=0.5898;ExAC_NFE=0.5870;ExAC_OTH=0.5265;ExAC_SAS=0.3446;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,51:80:99:1354,0,774 1 208208034 rs12128144 G C 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.492;DP=51;ExcessHet=3.0103;FS=2.665;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.537;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12128144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.1104;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.0386;1000g2015aug_amr=0.2176;1000g2015aug_all=0.147764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,25:51:99:721,0,779 1 208208124 rs6540448 C A 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.816;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1025\x3bName\x3e"367948:MER33(DNA)";avsnp150=rs6540448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2569;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.5197;1000g2015aug_amr=0.4496;1000g2015aug_all=0.436701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 208211887 rs905100 T C 725.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs905100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8859;1000g2015aug_sas=0.9632;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.7337;1000g2015aug_amr=0.8646;1000g2015aug_all=0.876597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:754,69,0 1 208212397 rs2767566 A G 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.521;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.56;SOR=0.706;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2767566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7401;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.5259;1000g2015aug_all=0.483826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,28:52:99:809,0,642 1 208212776 rs6686756 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5119;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.7496;1000g2015aug_amr=0.7248;1000g2015aug_all=0.679712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 208213125 rs1751580 A G 2324.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1751580;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8336;1000g2015aug_amr=0.9885;1000g2015aug_all=0.954273;esp6500siv2_all=0.9549;ExAC_ALL=0.9871;ExAC_AFR=0.8601;ExAC_AMR=0.9932;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2353,228,0 1 208213653 rs12734403 G A 125.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e474\x3bName\x3e"367957:MIR3(SINE)";avsnp150=rs12734403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.8221;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.6859;1000g2015aug_all=0.626997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:153,12,0 1 208216117 rs2281913 T A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e243\x3bName\x3e"367962:L4_A_Mam(LINE)";avsnp150=rs2281913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.5521;1000g2015aug_eur=0.8231;1000g2015aug_afr=0.6044;1000g2015aug_amr=0.6844;1000g2015aug_all=0.621605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 208219164 rs1536471 A C 1756.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=4.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.836;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.8487;1000g2015aug_all=0.755192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1785,138,0 1 208224955 rs1555948 G C 623.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.477;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.82;ReadPosRankSum=-1.955;SOR=0.272;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1555948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.5915;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.3473;1000g2015aug_all=0.353235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,19:35:99:652,0,551 1 208224957 rs681429 C T 1489.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs681429;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8502;1000g2015aug_amr=0.9899;1000g2015aug_all=0.958866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1518,105,0 1 208234388 rs4844634 G T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-0.854;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.2526;1000g2015aug_amr=0.3934;1000g2015aug_all=0.312899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 208252456 rs2274446 C T 313.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.344;DP=33;ExcessHet=3.0103;FS=3.715;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.037;SOR=0.178;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.2126;1000g2015aug_amr=0.3761;1000g2015aug_all=0.267572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,13:33:99:342,0,655 1 208252489 rs2274445 T C 660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.952;DP=36;ExcessHet=3.0103;FS=3.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=-1.541;SOR=1.596;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.3444;1000g2015aug_all=0.38738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,21:36:99:689,0,382 1 208252504 rs2274444 C A 440.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.915;DP=40;ExcessHet=3.0103;FS=5.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.596;SOR=0.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.3108;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.2133;1000g2015aug_amr=0.3761;1000g2015aug_all=0.267772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:469,0,630 1 208255877 rs6540453 T C 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.985;DP=64;ExcessHet=3.0103;FS=5.227;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.73;SOR=0.29;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540453;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.4611;1000g2015aug_all=0.563898;esp6500siv2_all=0.6265;ExAC_ALL=0.6435;ExAC_AFR=0.4901;ExAC_AMR=0.4133;ExAC_EAS=0.6871;ExAC_FIN=0.7419;ExAC_NFE=0.7055;ExAC_OTH=0.6492;ExAC_SAS=0.5811;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,25:64:99:579,0,1094 1 208258102 rs10159299 T C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10159299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3224;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.4622;1000g2015aug_afr=0.4297;1000g2015aug_amr=0.2997;1000g2015aug_all=0.366613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 208258308 rs12096904 T C 132.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12096904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.274;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.3905;1000g2015aug_all=0.242812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:160,12,0 1 208258328 rs12059440 G T 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.55;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2302;1000g2015aug_sas=0.274;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.3905;1000g2015aug_all=0.242812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 208266469 rs2478805 G T 293.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2478805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.9798;1000g2015aug_all=0.952875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:322,24,0 1 208269831 rs2274443 T C 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.598;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.4354;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.2997;1000g2015aug_all=0.367212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 208270244 rs3818517 A C 794.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.304;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.577;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3818517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.3487;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.2315;1000g2015aug_amr=0.4265;1000g2015aug_all=0.301318;esp6500siv2_all=0.3141;ExAC_ALL=0.3685;ExAC_AFR=0.2599;ExAC_AMR=0.4376;ExAC_EAS=0.2088;ExAC_FIN=0.3304;ExAC_NFE=0.3827;ExAC_OTH=0.3622;ExAC_SAS=0.4208;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,29:66:99:823,0,1069 1 208274130 rs4844640 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1806;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.1218;1000g2015aug_amr=0.3631;1000g2015aug_all=0.222244;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 208341050 rs1249876 C T 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=intronic;Gene=NM_025179;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1249876;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.9899;1000g2015aug_all=0.934904;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 208390155 rs4844657 C T 3416.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.436;DP=180;ExcessHet=3.0103;FS=0.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-0.549;SOR=0.785;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=exonic;Gene=NM_025179;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLXNA2:NM_025179:exon2:c.G1113A:p.L371L;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.2046;1000g2015aug_all=0.127596;esp6500siv2_all=0.1464;ExAC_ALL=0.1729;ExAC_AFR=0.0562;ExAC_AMR=0.2149;ExAC_EAS=0.1380;ExAC_FIN=0.2914;ExAC_NFE=0.1918;ExAC_OTH=0.2091;ExAC_SAS=0.1091;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,90:180:99:3445,0,5274 1 208390162 rs4844658 T C 3434.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.145;DP=176;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-1.118;SOR=0.825;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=exonic;Gene=NM_025179;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLXNA2:NM_025179:exon2:c.A1106G:p.E369G;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844658;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.2032;1000g2015aug_all=0.11861;esp6500siv2_all=0.1379;ExAC_ALL=0.1706;ExAC_AFR=0.0307;ExAC_AMR=0.2142;ExAC_EAS=0.1382;ExAC_FIN=0.2916;ExAC_NFE=0.1917;ExAC_OTH=0.2075;ExAC_SAS=0.1092;SIFT_score=0.002;SIFT_pred=D;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.8;MutationAssessor_pred=M;FATHMM_score=2.72;FATHMM_pred=T;phyloP100way_vertebrate=5.858;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=11.314;gerp++gt2=5.84;CADD=3.576;CADD_Phred=23.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,90:176:99:3463,0,5192 1 208391098 rs11119014 T C 2585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.68;DP=268;ExcessHet=3.0103;FS=0.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.045;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLXNA2;Func=exonic;Gene=NM_025179;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PLXNA2:NM_025179:exon2:c.A170G:p.Q57R;Gencode=Name\x3eENST00000367033.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11119014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.1483;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.098;1000g2015aug_all=0.086262;esp6500siv2_all=0.0532;ExAC_ALL=0.0834;ExAC_AFR=0.0256;ExAC_AMR=0.1454;ExAC_EAS=0.1520;ExAC_FIN=0.0587;ExAC_NFE=0.0652;ExAC_OTH=0.0651;ExAC_SAS=0.1246;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.42;MutationAssessor_pred=N;FATHMM_score=3.74;FATHMM_pred=T;phyloP100way_vertebrate=0.611;phyloP20way_mammalian=-1.568;SiPhy_29way_logOdds=10.096;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:161,104:265:99:2614,0,4576 1 208706115 rs10746415 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025179,NR_146914;GeneDetail=dist\x3e288450\x3bdist\x3e195918;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e566\x3bName\x3e"368833:MER5A1(DNA)";avsnp150=rs10746415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9879;1000g2015aug_amr=1;1000g2015aug_all=0.996805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 208716745 rs1341682 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025179,NR_146914;GeneDetail=dist\x3e299080\x3bdist\x3e185288;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e59\x3bName\x3e"368843:(AGGTGG)n(Simple_repeat)";avsnp150=rs1341682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9191;1000g2015aug_amr=0.9928;1000g2015aug_all=0.977636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 208778884 rs1340109 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_025179,NR_146914;GeneDetail=dist\x3e361219\x3bdist\x3e123149;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1340109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9939;1000g2015aug_amr=1;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 209233764 rs7526754 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e85112\x3bdist\x3e265037;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7526754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.5432;1000g2015aug_all=0.635184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 209298724 rs1174562 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e150072\x3bdist\x3e200077;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1174562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.9971;1000g2015aug_all=0.992013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 209346731 rs10863758 G A 960.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e198079\x3bdist\x3e152070;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.951881\x3bName\x3echr17:19020655;Repeat=.;avsnp150=rs10863758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.5266;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.5447;1000g2015aug_all=0.56889;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:989,84,0 1 209346993 rs12077139 G A 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.96;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e198341\x3bdist\x3e151808;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.951881\x3bName\x3echr17:19020655;Repeat=.;avsnp150=rs12077139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.326;1000g2015aug_amr=0.5403;1000g2015aug_all=0.549521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 209405753 rs2800919 G A 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.476;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.937;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e257101\x3bdist\x3e93048;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.901599\x3bName\x3echr15:79556562;Repeat=.;avsnp150=rs2800919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0615;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.1816;1000g2015aug_all=0.115615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:307,0,208 1 209406009 rs2788155 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e257357\x3bdist\x3e92792;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.901599\x3bName\x3echr15:79556562;Repeat=.;avsnp150=rs2788155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9957;1000g2015aug_all=0.98123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 209406904 rs4844466 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_146915,NR_135085;GeneDetail=dist\x3e258252\x3bdist\x3e91897;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.924847\x3bName\x3echr13:113640116;Repeat=.;avsnp150=rs4844466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.7207;1000g2015aug_afr=0.3525;1000g2015aug_amr=0.7061;1000g2015aug_all=0.654153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 209603996 rs2294938 A G 526.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.6;DP=29;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.155;SOR=0.299;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR205HG;Func=ncRNA_intronic;Gene=NR_145433,NR_145434,NR_145435,NR_145436,NR_145437;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429156.5,ENST00000458250.5,ENST00000431096.5,ENST00000603283.5,ENST00000366437.7,ENST00000440276.2;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294938;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.6738;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.1286;1000g2015aug_amr=0.7075;1000g2015aug_all=0.551518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:555,0,346 1 209611172 rs10863770 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_145433,NM_020439;GeneDetail=dist\x3e5280\x3bdist\x3e145873;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10863770;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.6789;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.7133;1000g2015aug_all=0.554912;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 209782343 rs11119314 A G 2730.77 PASS AC=2;AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=exonic;Gene=NM_020439;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAMK1G:NM_020439:exon8:c.A654G:p.P218P;Gencode=Name\x3eENST00000009105.5,ENST00000361322.2;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11119314;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.3867;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.5476;1000g2015aug_all=0.545527;esp6500siv2_all=0.4809;ExAC_ALL=0.4533;ExAC_AFR=0.6695;ExAC_AMR=0.6317;ExAC_EAS=0.5801;ExAC_FIN=0.3160;ExAC_NFE=0.3824;ExAC_OTH=0.4471;ExAC_SAS=0.4674;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.08;FATHMM_pred=T;phyloP100way_vertebrate=-2.499;phyloP20way_mammalian=-0.708;SiPhy_29way_logOdds=0.807;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,78:78:99:2759,234,0 1 209782684 rs76001087 G C 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361322.2,ENST00000009105.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76001087;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2143;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.328;1000g2015aug_afr=0.0635;1000g2015aug_amr=0.3055;1000g2015aug_all=0.218251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 209784663 rs10746421 A C 1465.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=5.031;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361322.2,ENST00000009105.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7882;1000g2015aug_all=0.777556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1494,114,0 1 209784927 rs2076230 G T 1197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.019;DP=73;ExcessHet=3.0103;FS=2.08;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.224;SOR=0.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000009105.5,ENST00000361322.2;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.2867;1000g2015aug_all=0.319489;esp6500siv2_all=0.3674;ExAC_ALL=0.3392;ExAC_AFR=0.4525;ExAC_AMR=0.2905;ExAC_EAS=0.1571;ExAC_FIN=0.3866;ExAC_NFE=0.3546;ExAC_OTH=0.3633;ExAC_SAS=0.3074;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,43:73:99:1226,0,794 1 209785011 rs2076226 G C 782.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.296;DP=40;ExcessHet=3.0103;FS=7.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=0;SOR=1.622;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361322.2,ENST00000009105.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076226;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,26:40:99:811,0,427 1 209785957 rs2272879 T G 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361322.2,ENST00000009105.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272879;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.9675;1000g2015aug_amr=0.7824;1000g2015aug_all=0.775759;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 209786078 rs2272880 G A 2233.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=1.032;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAMK1G;Func=intronic;Gene=NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000361322.2,ENST00000009105.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2272880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7431;1000g2015aug_sas=0.6789;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.7767;1000g2015aug_all=0.758387;esp6500siv2_all=0.6931;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2262,218,0 1 209788213 rs926387 T C 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_000228,NM_001017402,NM_001127641,NM_020439;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs926387;cosmic70=.;CLNALLELEID=353088;CLNDN=Epidermolysis_bullosa,_junctional;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.7853;1000g2015aug_all=0.77476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 209788514 rs2566 G A 1292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=141;ExcessHet=3.0103;FS=0.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.299;SOR=0.623;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=UTR3;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=NM_000228:c.*102C>T\x3bNM_001017402:c.*102C>T\x3bNM_001127641:c.*102C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367030.7,ENST00000391911.5,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2566;cosmic70=.;CLNALLELEID=280031;CLNDN=Epidermolysis_bullosa,_junctional;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.4121;1000g2015aug_all=0.295128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:87,54:141:99:1321,0,2358 1 209788703 rs1049607 T C 1646.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.076;DP=111;ExcessHet=3.0103;FS=3.698;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.447;SOR=0.404;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon22:c.A3432G:p.S1144S,LAMB3:NM_000228:exon23:c.A3432G:p.S1144S,LAMB3:NM_001127641:exon23:c.A3432G:p.S1144S;Gencode=Name\x3eENST00000356082.8,ENST00000367030.7,ENST00000391911.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1049607;cosmic70=.;CLNALLELEID=249679;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.6694;1000g2015aug_amr=0.3689;1000g2015aug_all=0.463259;esp6500siv2_all=0.4409;ExAC_ALL=0.4019;ExAC_AFR=0.6193;ExAC_AMR=0.3891;ExAC_EAS=0.4160;ExAC_FIN=0.3931;ExAC_NFE=0.3682;ExAC_OTH=0.4082;ExAC_SAS=0.4057;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,63:111:99:1675,0,1283 1 209795909 rs3179860 T C 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.179;DP=15;ExcessHet=3.0103;FS=10.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.98;ReadPosRankSum=-0.245;SOR=4.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon17:c.A2673G:p.L891L,LAMB3:NM_000228:exon18:c.A2673G:p.L891L,LAMB3:NM_001127641:exon18:c.A2673G:p.L891L;Gencode=Name\x3eENST00000356082.8,ENST00000391911.5,ENST00000367030.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3179860;cosmic70=.;CLNALLELEID=249682;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.16;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.0865;1000g2015aug_all=0.102835;esp6500siv2_all=0.1209;ExAC_ALL=0.1326;ExAC_AFR=0.0549;ExAC_AMR=0.0730;ExAC_EAS=0.0006;ExAC_FIN=0.1183;ExAC_NFE=0.1553;ExAC_OTH=0.1476;ExAC_SAS=0.2053;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,10:15:99:373,0,126 1 209796267 rs3737913 G A 293.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.187;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.129;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391911.5,ENST00000367030.7,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3661;1000g2015aug_sas=0.2444;1000g2015aug_eur=0.2724;1000g2015aug_afr=0.2405;1000g2015aug_amr=0.4121;1000g2015aug_all=0.296725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:322,0,288 1 209796329 rs12748250 T A 411.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=1.569;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LAMB3:NM_001017402:exon16:c.A2554T:p.M852L,LAMB3:NM_000228:exon17:c.A2554T:p.M852L,LAMB3:NM_001127641:exon17:c.A2554T:p.M852L;Gencode=Name\x3eENST00000391911.5,ENST00000367030.7,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12748250;cosmic70=.;CLNALLELEID=249683;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.159;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.0865;1000g2015aug_all=0.102436;esp6500siv2_all=0.1192;ExAC_ALL=0.1338;ExAC_AFR=0.0567;ExAC_AMR=0.0731;ExAC_EAS=0.0006;ExAC_FIN=0.1183;ExAC_NFE=0.1567;ExAC_OTH=0.1502;ExAC_SAS=0.2051;SIFT_score=0.546;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.477;MutationTaster_pred=P;MutationAssessor_score=2.305;MutationAssessor_pred=M;FATHMM_score=2.15;FATHMM_pred=T;phyloP100way_vertebrate=2.291;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=11.669;gerp++gt2=5.21;CADD=2.030;CADD_Phred=16.41;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,15:28:99:440,0,401 1 209798824 rs4844860 A G 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.697;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=0.227;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367030.7,ENST00000391911.5,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e619\x3bName\x3e"370816:MIRc(SINE)";avsnp150=rs4844860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.323;1000g2015aug_amr=0.2464;1000g2015aug_all=0.266174;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,14:36:99:294,0,637 1 209799253 rs2179402 A G 1667.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.864;DP=116;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=1.157;SOR=0.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon13:c.T1716C:p.C572C,LAMB3:NM_000228:exon14:c.T1716C:p.C572C,LAMB3:NM_001127641:exon14:c.T1716C:p.C572C;Gencode=Name\x3eENST00000367030.7,ENST00000391911.5,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2179402;cosmic70=.;CLNALLELEID=249684;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8304;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.7837;1000g2015aug_amr=0.7075;1000g2015aug_all=0.764976;esp6500siv2_all=0.7460;ExAC_ALL=0.7565;ExAC_AFR=0.7736;ExAC_AMR=0.7755;ExAC_EAS=0.8259;ExAC_FIN=0.7369;ExAC_NFE=0.7469;ExAC_OTH=0.7528;ExAC_SAS=0.7425;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,62:116:99:1696,0,1588 1 209801707 rs2076353 T C 167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.754;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356082.8,ENST00000391911.5,ENST00000367030.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e727\x3bName\x3e"370819:MIR(SINE)";avsnp150=rs2076353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.0706;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.0836;1000g2015aug_all=0.107827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:196,0,292 1 209804095 rs4844863 G A 1042.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356082.8,ENST00000391911.5,ENST00000367030.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844863;cosmic70=.;CLNALLELEID=249689;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.7752;1000g2015aug_all=0.823283;esp6500siv2_all=0.8406;ExAC_ALL=0.8472;ExAC_AFR=0.8299;ExAC_AMR=0.8283;ExAC_EAS=0.8278;ExAC_FIN=0.8787;ExAC_NFE=0.8616;ExAC_OTH=0.8496;ExAC_SAS=0.8108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1071,99,0 1 209807972 rs1130667 G A 713.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.422;DP=49;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.432;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon5:c.C384T:p.P128P,LAMB3:NM_000228:exon6:c.C384T:p.P128P,LAMB3:NM_001127641:exon6:c.C384T:p.P128P;Gencode=Name\x3eENST00000356082.8,ENST00000367030.7,ENST00000391911.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1130667;cosmic70=.;CLNALLELEID=249691;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.317;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.2421;1000g2015aug_all=0.245407;esp6500siv2_all=0.3137;ExAC_ALL=0.3625;ExAC_AFR=0.1504;ExAC_AMR=0.2141;ExAC_EAS=0.2551;ExAC_FIN=0.4770;ExAC_NFE=0.4234;ExAC_OTH=0.3674;ExAC_SAS=0.3520;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,27:49:99:742,0,562 1 209811595 rs2072941 T C 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.489;DP=8;ExcessHet=3.0103;FS=7.068;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-1.15;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356082.8,ENST00000391911.5,ENST00000367030.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2072941;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1835;1000g2015aug_sas=0.364;1000g2015aug_eur=0.4682;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.2839;1000g2015aug_all=0.266773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:147,0,102 1 209811829 rs2076355 A T 771.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.281;DP=76;ExcessHet=3.0103;FS=4.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.979;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391911.5,ENST00000367030.7,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076355;cosmic70=.;CLNALLELEID=249693;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7153;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.4611;1000g2015aug_all=0.455072;esp6500siv2_all=0.2604;ExAC_ALL=0.3396;ExAC_AFR=0.3235;ExAC_AMR=0.5201;ExAC_EAS=0.7079;ExAC_FIN=0.2474;ExAC_NFE=0.2396;ExAC_OTH=0.3289;ExAC_SAS=0.4736;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,31:75:99:800,0,1094 1 209811886 rs2076356 T G 1388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.014;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.386;SOR=0.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon3:c.A291C:p.S97S,LAMB3:NM_000228:exon4:c.A291C:p.S97S,LAMB3:NM_001127641:exon4:c.A291C:p.S97S;Gencode=Name\x3eENST00000367030.7,ENST00000391911.5,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076356;cosmic70=.;CLNALLELEID=249694;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.4582;1000g2015aug_all=0.432508;esp6500siv2_all=0.5746;ExAC_ALL=0.5709;ExAC_AFR=0.4142;ExAC_AMR=0.4398;ExAC_EAS=0.2927;ExAC_FIN=0.7056;ExAC_NFE=0.6594;ExAC_OTH=0.5980;ExAC_SAS=0.4938;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:50,52:102:99:1417,0,1271 1 209812063 rs2076357 T C 1659.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356082.8,ENST00000367030.7,ENST00000391911.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3419;1000g2015aug_amr=0.5951;1000g2015aug_all=0.578874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1688,138,0 1 209823354 rs2228339 G A 923.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.12;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=2.311;SOR=0.773;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=exonic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LAMB3:NM_001017402:exon2:c.C138T:p.T46T,LAMB3:NM_000228:exon3:c.C138T:p.T46T,LAMB3:NM_001127641:exon3:c.C138T:p.T46T;Gencode=Name\x3eENST00000356082.8,ENST00000391911.5,ENST00000367030.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2228339;cosmic70=.;CLNALLELEID=249695;CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3393;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.2088;1000g2015aug_amr=0.4078;1000g2015aug_all=0.297923;esp6500siv2_all=0.2423;ExAC_ALL=0.2779;ExAC_AFR=0.2267;ExAC_AMR=0.4493;ExAC_EAS=0.3319;ExAC_FIN=0.2358;ExAC_NFE=0.2447;ExAC_OTH=0.2726;ExAC_SAS=0.3130;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,38:79:99:952,0,1136 1 209824099 rs2076360 G C 348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.888;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=0.455;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLAMB3;Func=intronic;Gene=NM_000228,NM_001017402,NM_001127641;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391911.5,ENST00000367030.7,ENST00000356082.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.4092;1000g2015aug_all=0.305911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:99:377,0,161 1 209848600 rs1815548 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_134509,NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441672.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1815548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0843;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2127;1000g2015aug_afr=0.1823;1000g2015aug_amr=0.2378;1000g2015aug_all=0.17492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 209848696 rs932375 G C 133.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eG0S2;Func=ncRNA_intronic;Gene=NR_134509,NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441672.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9483;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.8804;1000g2015aug_all=0.878594;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:161,12,0 1 209849406 rs1473683 T G 962.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.25;SOR=3.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eG0S2;Func=ncRNA_intronic;Gene=NR_134509,NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367029.4,ENST00000441672.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9871;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.8948;1000g2015aug_all=0.919329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:991,81,0 1 209867397 rs10082169 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD11B1;Func=ncRNA_intronic;Gene=NR_134509,NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000441672.1,ENST00000367028.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e303\x3bName\x3e"370944:L2(LINE)";avsnp150=rs10082169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.682;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.7968;1000g2015aug_all=0.728634;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 209880259 rs12086634 T G 591.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.196;DP=62;ExcessHet=3.0103;FS=2.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.129;SOR=1.139;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD11B1;Func=ncRNA_intronic;Gene=NR_134509,NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367028.6,ENST00000367027.4,ENST00000441672.1;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12086634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2371;1000g2015aug_sas=0.1626;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.2046;1000g2015aug_all=0.197085;esp6500siv2_all=0.1908;ExAC_ALL=0.2066;ExAC_AFR=0.1806;ExAC_AMR=0.2108;ExAC_EAS=0.2197;ExAC_FIN=0.2690;ExAC_NFE=0.2107;ExAC_OTH=0.2115;ExAC_SAS=0.1717;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,25:62:99:620,0,1121 1 209905372 rs9430014 A C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD11B1;Func=ncRNA_intronic;Gene=NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367027.4,ENST00000367028.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9430014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.1697;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.2147;1000g2015aug_all=0.211262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 209905734 rs932335 G C 480.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.287;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.399;SOR=0.459;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHSD11B1;Func=ncRNA_intronic;Gene=NR_134510;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367027.4,ENST00000367028.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs932335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2212;1000g2015aug_sas=0.1697;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.2118;1000g2015aug_all=0.210863;esp6500siv2_all=0.2054;ExAC_ALL=0.2124;ExAC_AFR=0.2132;ExAC_AMR=0.2109;ExAC_EAS=0.2046;ExAC_FIN=0.2783;ExAC_NFE=0.2163;ExAC_OTH=0.2151;ExAC_SAS=0.1748;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,17:29:99:509,0,346 1 209918090 rs7532324 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.44;SOR=0.991;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_134510,NM_001320144;GeneDetail=dist\x3e2183\x3bdist\x3e11287;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4881;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.236;1000g2015aug_amr=0.3963;1000g2015aug_all=0.310903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 209918151 rs3765240 G A 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.191;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.081;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_134510,NM_001320144;GeneDetail=dist\x3e2244\x3bdist\x3e11226;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765240;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2187;1000g2015aug_afr=0.5862;1000g2015aug_amr=0.2478;1000g2015aug_all=0.319888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,183 1 209933331 rs6685077 A G 726.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.237;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.398;SOR=0.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=UTR5;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=NM_001320143:c.-54A>G\x3bNM_001320144:c.-54A>G\x3bNM_025228:c.-54A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367026.7,ENST00000367024.5,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685077;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.7443;1000g2015aug_amr=0.2795;1000g2015aug_all=0.373203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,23:51:99:755,0,970 1 209933540 rs2076150 A G 2578.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.022;DP=184;ExcessHet=3.0103;FS=0.537;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.137;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=exonic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TRAF3IP3:NM_001320143:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_001320144:exon3:c.A156G:p.Q52Q,TRAF3IP3:NM_025228:exon3:c.A156G:p.Q52Q;Gencode=Name\x3eENST00000367025.7,ENST00000400959.7,ENST00000367026.7,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2076150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.2795;1000g2015aug_all=0.373003;esp6500siv2_all=0.3778;ExAC_ALL=0.2810;ExAC_AFR=0.6945;ExAC_AMR=0.2492;ExAC_EAS=0.2195;ExAC_FIN=0.2809;ExAC_NFE=0.2387;ExAC_OTH=0.2533;ExAC_SAS=0.2476;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,96:184:99:2607,0,2332 1 209933757 rs6696463 G C 1342.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.267;DP=108;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.136;SOR=0.655;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367024.5,ENST00000367026.7,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.2795;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=0.3456;ExAC_AFR=0.7045;ExAC_AMR=0.3309;ExAC_EAS=0.2945;ExAC_FIN=0.3474;ExAC_NFE=0.2966;ExAC_OTH=0.3207;ExAC_SAS=0.3057;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,48:108:99:1371,0,1766 1 209934841 rs643118 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367025.7,ENST00000400959.7,ENST00000367024.5,ENST00000367026.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs643118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7867;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.7205;1000g2015aug_all=0.626997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 209935282 rs61820582 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367024.5,ENST00000367026.7,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61820582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 209935778 rs10489342 A G 1062.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.316;DP=76;ExcessHet=3.0103;FS=6.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.361;SOR=1.411;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400959.7,ENST00000367025.7,ENST00000367026.7,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10489342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.2795;1000g2015aug_all=0.373003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,41:76:99:1091,0,879 1 209936466 rs7548219 A G 267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.75;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-0.863;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400959.7,ENST00000367025.7,ENST00000367026.7,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.2795;1000g2015aug_all=0.365016;esp6500siv2_all=0.3749;ExAC_ALL=0.2796;ExAC_AFR=0.6813;ExAC_AMR=0.25;ExAC_EAS=0.2107;ExAC_FIN=0.2806;ExAC_NFE=0.2407;ExAC_OTH=0.2556;ExAC_SAS=0.2508;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,16:51:99:296,0,1003 1 209936571 rs6540555 A G 295.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.47;DP=44;ExcessHet=3.0103;FS=3.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=-0.644;SOR=0.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400959.7,ENST00000367025.7,ENST00000367026.7,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540555;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.281;1000g2015aug_all=0.366214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,15:44:99:324,0,863 1 209936631 rs6540556 G A 164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.55;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.746;SOR=0.313;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367024.5,ENST00000367026.7,ENST00000400959.7,ENST00000367025.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.2781;1000g2015aug_all=0.361422;esp6500siv2_all=0.3590;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,6:19:99:193,0,418 1 209936673 rs7536882 C G 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.755;DP=16;ExcessHet=3.0103;FS=5.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-2.338;SOR=0.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367025.7,ENST00000400959.7,ENST00000367026.7,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.7179;1000g2015aug_amr=0.281;1000g2015aug_all=0.363618;esp6500siv2_all=0.3734;ExAC_ALL=0.2803;ExAC_AFR=0.6774;ExAC_AMR=0.2498;ExAC_EAS=0.2109;ExAC_FIN=0.2804;ExAC_NFE=0.2400;ExAC_OTH=0.2544;ExAC_SAS=0.2508;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:231,0,294 1 209936914 rs17015169 C T 951.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.443;DP=72;ExcessHet=3.0103;FS=0.901;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.75;SOR=0.902;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=exonic;Gene=NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TRAF3IP3:NM_001320143:exon8:c.C684T:p.A228A,TRAF3IP3:NM_001320144:exon8:c.C624T:p.A208A,TRAF3IP3:NM_025228:exon8:c.C684T:p.A228A;Gencode=Name\x3eENST00000367024.5,ENST00000367026.7,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17015169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3075;1000g2015aug_sas=0.2658;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.2752;1000g2015aug_all=0.380591;esp6500siv2_all=0.3625;ExAC_ALL=0.2878;ExAC_AFR=0.6471;ExAC_AMR=0.2430;ExAC_EAS=0.3316;ExAC_FIN=0.2892;ExAC_NFE=0.2385;ExAC_OTH=0.2583;ExAC_SAS=0.2699;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,38:72:99:980,0,830 1 209950486 rs648349 A G 135.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001287754,NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000477431.1,ENST00000367026.7,ENST00000367023.5,ENST00000367024.5,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs648349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.2493;1000g2015aug_all=0.28115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:163,12,0 1 209950681 rs649275 T C 1657.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=intronic;Gene=NM_001287754,NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400959.7,ENST00000367025.7,ENST00000367023.5,ENST00000367026.7,ENST00000477431.1,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs649275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6329;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.5923;1000g2015aug_amr=0.6729;1000g2015aug_all=0.613818;esp6500siv2_all=0.6113;ExAC_ALL=0.6226;ExAC_AFR=0.5814;ExAC_AMR=0.7041;ExAC_EAS=0.6438;ExAC_FIN=0.6284;ExAC_NFE=0.6255;ExAC_OTH=0.6220;ExAC_SAS=0.5657;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1686,150,0 1 209950760 rs669694 C G 2402.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=0.898;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF3IP3;Func=exonic;Gene=NM_001287754,NM_001320143,NM_001320144,NM_025228;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TRAF3IP3:NM_001287754:exon5:c.C325G:p.Q109E,TRAF3IP3:NM_001320143:exon12:c.C1117G:p.Q373E,TRAF3IP3:NM_001320144:exon12:c.C1057G:p.Q353E,TRAF3IP3:NM_025228:exon12:c.C1117G:p.Q373E;Gencode=Name\x3eENST00000367025.7,ENST00000400959.7,ENST00000477431.1,ENST00000367026.7,ENST00000367023.5,ENST00000367024.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs669694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7674;1000g2015aug_afr=0.8828;1000g2015aug_amr=0.7781;1000g2015aug_all=0.8123;esp6500siv2_all=0.8187;ExAC_ALL=0.7901;ExAC_AFR=0.8662;ExAC_AMR=0.7842;ExAC_EAS=0.8086;ExAC_FIN=0.7425;ExAC_NFE=0.7833;ExAC_OTH=0.7792;ExAC_SAS=0.7836;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.3;MutationAssessor_pred=N;FATHMM_score=-1.1;FATHMM_pred=T;phyloP100way_vertebrate=3.948;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=15.398;gerp++gt2=5.56;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2431,219,0 1 209952865 rs623360 C G 419.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf74,TRAF3IP3;Func=UTR3;Gene=NM_001287754,NM_152485;GeneDetail=NM_001287754:c.*117C>G\x3bNM_152485:c.*3305G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294811.2,ENST00000477431.1,ENST00000367026.7,ENST00000367023.5,ENST00000367024.5,ENST00000367025.7,ENST00000400959.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs623360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.3528;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.2478;1000g2015aug_all=0.28115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:448,42,0 1 209955848 rs651141 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf74;Func=UTR3;Gene=NM_152485;GeneDetail=NM_152485:c.*322T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294811.2;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs651141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.3558;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.2579;1000g2015aug_all=0.287939;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 209968319 rs6685182 A C 639.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.05;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIRF6;Func=intronic;Gene=NM_001206696,NM_006147;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542854.5,ENST00000367021.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.6392;1000g2015aug_afr=0.7572;1000g2015aug_amr=0.5231;1000g2015aug_all=0.596446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:668,48,0 1 209970355 rs7555285 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIRF6;Func=intronic;Gene=NM_001206696,NM_006147;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542854.5,ENST00000367021.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8105;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7833;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.7853;1000g2015aug_all=0.804113;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 210001233 rs661849 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=1.282;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs661849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.7594;1000g2015aug_all=0.817692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 210001586 rs616227 A G 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.025;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.183;SOR=0.85;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs616227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.3429;1000g2015aug_all=0.466653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,30:57:99:809,0,650 1 210001713 rs674346 C A 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs674346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3046;1000g2015aug_sas=0.546;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.3429;1000g2015aug_all=0.466653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 210003388 rs599663 A C 41.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.988;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=-0.679;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e341\x3bName\x3e"371183:L1ME4c(LINE)";avsnp150=rs599663;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.3384;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.3033;1000g2015aug_amr=0.2421;1000g2015aug_all=0.303514;esp6500siv2_all=0.3763;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,4:17:70:70,0,310 1 210003402 rs599649 T C 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.657;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=-0.1;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e341\x3bName\x3e"371183:L1ME4c(LINE)";avsnp150=rs599649;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6097;1000g2015aug_amr=0.5403;1000g2015aug_all=0.590455;esp6500siv2_all=0.7066;ExAC_ALL=0.6745;ExAC_AFR=0.6034;ExAC_AMR=0.4843;ExAC_EAS=0.3957;ExAC_FIN=0.7356;ExAC_NFE=0.7476;ExAC_OTH=0.6904;ExAC_SAS=0.6776;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:76:76,0,399 1 210004199 rs585627 C G 679.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.35;DP=43;ExcessHet=3.0103;FS=1.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.382;SOR=0.95;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=exonic;Gene=NM_014388;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DIEXF:NM_014388:exon3:c.C199G:p.Q67E;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs585627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590056;esp6500siv2_all=0.7031;ExAC_ALL=0.6730;ExAC_AFR=0.5952;ExAC_AMR=0.4837;ExAC_EAS=0.3918;ExAC_FIN=0.7349;ExAC_NFE=0.7469;ExAC_OTH=0.6894;ExAC_SAS=0.6778;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.42;MutationAssessor_pred=N;FATHMM_score=1.17;FATHMM_pred=T;phyloP100way_vertebrate=5.267;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=15.931;gerp++gt2=5.02;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:708,0,524 1 210006267 rs4844903 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e533\x3bName\x3e"371192:MLT2B4(LTR)";avsnp150=rs4844903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 210006437 rs655712 G A 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.027;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs655712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:417,0,1068 1 210006438 rs655713 C T 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.113;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.285;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs655713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590056;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:417,0,1068 1 210006603 rs656566 C T 1814.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.344;DP=161;ExcessHet=3.0103;FS=0.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.807;SOR=0.768;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=exonic;Gene=NM_014388;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DIEXF:NM_014388:exon4:c.C462T:p.P154P;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs656566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590256;esp6500siv2_all=0.7064;ExAC_ALL=0.6741;ExAC_AFR=0.6020;ExAC_AMR=0.4844;ExAC_EAS=0.3937;ExAC_FIN=0.7352;ExAC_NFE=0.7472;ExAC_OTH=0.6909;ExAC_SAS=0.6782;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:88,73:161:99:1843,0,2270 1 210006873 rs657844 T G 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.566;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.672;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs657844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.6697;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5418;1000g2015aug_all=0.589856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,273 1 210006884 rs657861 C G 188.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=0.349;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs657861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7276;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.5403;1000g2015aug_all=0.589657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:217,0,176 1 210008367 rs685248 C G 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.123;DP=27;ExcessHet=3.0103;FS=1.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=1.689;SOR=0.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs685248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.5418;1000g2015aug_all=0.590256;esp6500siv2_all=0.7100;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,7:27:99:177,0,720 1 210008673 rs686582 T G 140.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.536;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.631;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs686582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.7286;1000g2015aug_afr=0.6082;1000g2015aug_amr=0.5432;1000g2015aug_all=0.590455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:169,0,224 1 210012102 rs1962735 A G 654.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.441;DP=61;ExcessHet=3.0103;FS=7.169;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.295;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1962735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6225;1000g2015aug_amr=0.7233;1000g2015aug_all=0.724641;esp6500siv2_all=.;ExAC_ALL=0.7538;ExAC_AFR=0.6195;ExAC_AMR=0.7550;ExAC_EAS=0.8021;ExAC_FIN=0.7514;ExAC_NFE=0.7643;ExAC_OTH=0.7629;ExAC_SAS=0.7687;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,24:61:99:683,0,1024 1 210014093 rs654470 A T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs654470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8016;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.7579;1000g2015aug_all=0.817692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 210014603 rs674804 C G 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-1.111;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDIEXF;Func=intronic;Gene=NM_014388;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000491415.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs674804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.7579;1000g2015aug_all=0.823283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:95:95,0,228 1 210111733 rs12025114 G A 414.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.372;DP=31;ExcessHet=3.0103;FS=4.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.574;SOR=2.232;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT14;Func=intronic;Gene=NM_001146261,NM_001146262,NM_001146264,NM_001256006,NM_153262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000629778.2,ENST00000537238.5,ENST00000472886.5,ENST00000367019.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12025114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.1029;1000g2015aug_amr=0.4294;1000g2015aug_all=0.39357;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:443,0,507 1 210332577 rs12408541 C A 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.253;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSYT14;Func=intronic;Gene=NM_001146261,NM_001146262,NM_001146264,NM_001256006,NM_153262;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367019.5,ENST00000537238.5,ENST00000629778.2,ENST00000472886.5,ENST00000367015.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0389;1000g2015aug_all=0.0189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 210341413 rs114339023 G A 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e3780\x3bdist\x3e63391;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e29\x3bName\x3e"371762:(GGT)n(Simple_repeat)";avsnp150=rs114339023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.7045;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.8283;1000g2015aug_amr=0.7824;1000g2015aug_all=0.782548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:79:81,0,79 1 210361388 rs4844958 A G 152.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.296;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.977;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e23755\x3bdist\x3e43416;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1039\x3bName\x3e"371800:HERVH-int(LTR)";avsnp150=rs4844958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6984;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.5159;1000g2015aug_afr=0.0703;1000g2015aug_amr=0.6225;1000g2015aug_all=0.460663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:181,0,143 1 210361461 rs4844959 G A 158.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.417;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.563;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e23828\x3bdist\x3e43343;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1039\x3bName\x3e"371800:HERVH-int(LTR)";avsnp150=rs4844959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.7032;1000g2015aug_all=0.546925;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:187,0,145 1 210362988 rs72743440 G A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.712;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e25355\x3bdist\x3e41816;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11103\x3bName\x3e"371801:HERVH-int(LTR)";avsnp150=rs72743440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.4499;1000g2015aug_eur=0.498;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.3516;1000g2015aug_all=0.359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,328 1 210362989 rs72743441 C A 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.712;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e25356\x3bdist\x3e41815;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11103\x3bName\x3e"371801:HERVH-int(LTR)";avsnp150=rs72743441;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.4489;1000g2015aug_eur=0.498;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.3516;1000g2015aug_all=0.359225;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:69:69,0,328 1 210363254 rs11588695 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146264,NR_024337;GeneDetail=dist\x3e25621\x3bdist\x3e41550;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11103\x3bName\x3e"371801:HERVH-int(LTR)";avsnp150=rs11588695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6974;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.506;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.6282;1000g2015aug_all=0.491214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 210406940 rs624270 T C 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.817;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.412;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSERTAD4,SERTAD4-AS1;Func=ncRNA_intronic;Gene=NR_024337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437764.5,ENST00000367012.3;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs624270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7768;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.7186;1000g2015aug_amr=0.6816;1000g2015aug_all=0.632788;esp6500siv2_all=.;ExAC_ALL=0.4879;ExAC_AFR=0.6635;ExAC_AMR=0.6340;ExAC_EAS=0.7197;ExAC_FIN=0.6923;ExAC_NFE=0.4444;ExAC_OTH=0.55;ExAC_SAS=0.4828;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:260,0,244 1 210407031 rs624706 G T 473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.124;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.046;SOR=1.119;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSERTAD4-AS1,SERTAD4;Func=ncRNA_exonic;Gene=NR_024337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367012.3,ENST00000437764.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs624706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7768;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.7118;1000g2015aug_amr=0.6801;1000g2015aug_all=0.63099;esp6500siv2_all=.;ExAC_ALL=0.4943;ExAC_AFR=0.6817;ExAC_AMR=0.6644;ExAC_EAS=0.7531;ExAC_FIN=0.4773;ExAC_NFE=0.4431;ExAC_OTH=0.5513;ExAC_SAS=0.4824;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:502,0,545 1 210407339 rs34824193 T A 424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.891;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-1.117;SOR=0.597;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSERTAD4,SERTAD4-AS1;Func=ncRNA_exonic;Gene=NR_024337;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367012.3,ENST00000437764.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34824193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:453,0,459 1 210465486 rs74487756 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_019605,NM_001122834;GeneDetail=dist\x3e49046\x3bdist\x3e36111;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74487756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.028;1000g2015aug_amr=0.1772;1000g2015aug_all=0.138778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 210536078 rs2294848 C G 1489.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541565.5,ENST00000261458.7,ENST00000537898.5,ENST00000545154.5,ENST00000367010.5,ENST00000413764.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.7761;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.8573;1000g2015aug_all=0.800519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1518,126,0 1 210536278 rs11119469 C A 363.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.226;DP=40;ExcessHet=3.0103;FS=3.403;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.489;SOR=0.242;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367010.5,ENST00000413764.6,ENST00000541565.5,ENST00000537898.5,ENST00000545154.5,ENST00000261458.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11119469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.0908;1000g2015aug_all=0.0712859;esp6500siv2_all=0.1144;ExAC_ALL=0.1144;ExAC_AFR=0.0378;ExAC_AMR=0.0656;ExAC_EAS=0.0015;ExAC_FIN=0.1428;ExAC_NFE=0.1475;ExAC_OTH=0.1211;ExAC_SAS=0.1108;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,15:40:99:392,0,754 1 210536387 rs11119470 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.936;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367010.5,ENST00000413764.6,ENST00000541565.5,ENST00000545154.5,ENST00000537898.5,ENST00000261458.7;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11119470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1217;1000g2015aug_eur=0.1402;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.0908;1000g2015aug_all=0.0732827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,172 1 210536457 rs2294847 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413764.6,ENST00000367010.5,ENST00000545154.5,ENST00000537898.5,ENST00000261458.7,ENST00000541565.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2294847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5893;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.7495;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.8559;1000g2015aug_all=0.801118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 210574267 rs4844526 G T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367010.5,ENST00000413764.6,ENST00000545781.2,ENST00000541565.5,ENST00000261458.7,ENST00000545154.5,ENST00000537898.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4844526;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.6113;1000g2015aug_afr=0.7103;1000g2015aug_amr=0.6513;1000g2015aug_all=0.591653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 210577831 rs34772809 C T 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.392;DP=18;ExcessHet=3.0103;FS=2.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=0.489;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=exonic;Gene=NM_001122834,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HHAT:NM_001170587:exon5:c.C495T:p.N165N,HHAT:NM_001170588:exon5:c.C297T:p.N99N,HHAT:NM_001122834:exon6:c.C492T:p.N164N,HHAT:NM_001170580:exon6:c.C492T:p.N164N,HHAT:NM_018194:exon6:c.C492T:p.N164N;Gencode=Name\x3eENST00000261458.7,ENST00000545154.5,ENST00000537898.5,ENST00000545781.2,ENST00000541565.5,ENST00000413764.6,ENST00000367010.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34772809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.111;1000g2015aug_all=0.0810703;esp6500siv2_all=0.1414;ExAC_ALL=0.1362;ExAC_AFR=0.0476;ExAC_AMR=0.0817;ExAC_EAS=0.0015;ExAC_FIN=0.1589;ExAC_NFE=0.1835;ExAC_OTH=0.1482;ExAC_SAS=0.1001;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:178,0,295 1 210577873 rs2066721 G C 644.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=exonic;Gene=NM_001122834,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HHAT:NM_001170587:exon5:c.G537C:p.L179L,HHAT:NM_001170588:exon5:c.G339C:p.L113L,HHAT:NM_001122834:exon6:c.G534C:p.L178L,HHAT:NM_001170580:exon6:c.G534C:p.L178L,HHAT:NM_018194:exon6:c.G534C:p.L178L;Gencode=Name\x3eENST00000541565.5,ENST00000545781.2,ENST00000537898.5,ENST00000545154.5,ENST00000261458.7,ENST00000367010.5,ENST00000413764.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2066721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.628;1000g2015aug_sas=0.7086;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.8444;1000g2015aug_all=0.759984;esp6500siv2_all=0.7789;ExAC_ALL=0.7706;ExAC_AFR=0.8245;ExAC_AMR=0.8677;ExAC_EAS=0.6207;ExAC_FIN=0.8014;ExAC_NFE=0.7732;ExAC_OTH=0.7676;ExAC_SAS=0.7239;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:673,63,0 1 210577901 rs34228541 T C 259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.618;DP=23;ExcessHet=3.0103;FS=1.648;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.062;SOR=0.654;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=exonic;Gene=NM_001122834,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HHAT:NM_001170587:exon5:c.T565C:p.C189R,HHAT:NM_001170588:exon5:c.T367C:p.C123R,HHAT:NM_001122834:exon6:c.T562C:p.C188R,HHAT:NM_001170580:exon6:c.T562C:p.C188R,HHAT:NM_018194:exon6:c.T562C:p.C188R;Gencode=Name\x3eENST00000413764.6,ENST00000367010.5,ENST00000261458.7,ENST00000537898.5,ENST00000545154.5,ENST00000545781.2,ENST00000541565.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34228541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.034;1000g2015aug_amr=0.111;1000g2015aug_all=0.0808706;esp6500siv2_all=0.1416;ExAC_ALL=0.1361;ExAC_AFR=0.0470;ExAC_AMR=0.0815;ExAC_EAS=0.0015;ExAC_FIN=0.1589;ExAC_NFE=0.1835;ExAC_OTH=0.1509;ExAC_SAS=0.0997;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.63;MutationAssessor_pred=M;FATHMM_score=2.01;FATHMM_pred=T;phyloP100way_vertebrate=7.195;phyloP20way_mammalian=1.011;SiPhy_29way_logOdds=15.372;gerp++gt2=5.54;CADD=5.999;CADD_Phred=27.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,11:23:99:288,0,296 1 210637550 rs7554508 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000541565.5,ENST00000545781.2,ENST00000545154.5,ENST00000537898.5,ENST00000261458.7,ENST00000367010.5,ENST00000367009.2,ENST00000413764.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7554508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.4654;1000g2015aug_all=0.527955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 210761462 rs4297293 G C 2478.77 PASS AC=2;AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.85;SOR=3.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000413764.6,ENST00000367009.2,ENST00000367010.5,ENST00000261458.7,ENST00000545154.5,ENST00000537898.5,ENST00000545781.2,ENST00000541565.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4297293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.9841;1000g2015aug_all=0.94988;esp6500siv2_all=0.9499;ExAC_ALL=0.9847;ExAC_AFR=0.8561;ExAC_AMR=0.9907;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9987;ExAC_OTH=0.9857;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-2.762;phyloP20way_mammalian=-0.823;SiPhy_29way_logOdds=2.782;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,69:69:99:2507,207,0 1 210804430 rs4951682 G A 503.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.747;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-2.009;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHAT;Func=intronic;Gene=NM_001122834,NM_001170564,NM_001170580,NM_001170587,NM_001170588,NM_018194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367010.5,ENST00000413764.6,ENST00000367009.2,ENST00000541565.5,ENST00000261458.7,ENST00000545154.5,ENST00000537898.5;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e515\x3bName\x3e"372641:LTR40a(LTR)";avsnp150=rs4951682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.1421;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.2005;1000g2015aug_amr=0.1974;1000g2015aug_all=0.203474;esp6500siv2_all=.;ExAC_ALL=0.1752;ExAC_AFR=0.1989;ExAC_AMR=0.2128;ExAC_EAS=0.2475;ExAC_FIN=0.2430;ExAC_NFE=0.1896;ExAC_OTH=0.2216;ExAC_SAS=0.1496;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,20:33:99:532,0,342 1 210856585 rs3135473 G T 1468.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=UTR3;Gene=NM_002238,NM_172362;GeneDetail=NM_002238:c.*38C>A\x3bNM_172362:c.*38C>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3135473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.8149;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.8744;1000g2015aug_amr=0.6844;1000g2015aug_all=0.756789;esp6500siv2_all=0.7582;ExAC_ALL=0.7090;ExAC_AFR=0.8580;ExAC_AMR=0.6339;ExAC_EAS=0.6476;ExAC_FIN=0.5747;ExAC_NFE=0.7002;ExAC_OTH=0.7269;ExAC_SAS=0.8112;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1497,138,0 1 210857457 rs1135317 A G 934.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=exonic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNH1:NM_002238:exon11:c.T2055C:p.D685D,KCNH1:NM_172362:exon11:c.T2136C:p.D712D;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1135317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6528;1000g2015aug_sas=0.8016;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.8071;1000g2015aug_amr=0.6888;1000g2015aug_all=0.739417;esp6500siv2_all=0.7414;ExAC_ALL=0.7114;ExAC_AFR=0.7972;ExAC_AMR=0.6484;ExAC_EAS=0.6478;ExAC_FIN=0.6333;ExAC_NFE=0.7125;ExAC_OTH=0.7430;ExAC_SAS=0.8019;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:963,90,0 1 210948383 rs1114880 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1114880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2768;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.6054;1000g2015aug_afr=0.6853;1000g2015aug_amr=0.5548;1000g2015aug_all=0.521366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 210977822 rs1343146 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1343146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.592;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.7973;1000g2015aug_amr=0.6326;1000g2015aug_all=0.676318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 211032696 rs4951669 C G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.8472;1000g2015aug_amr=0.5965;1000g2015aug_all=0.601038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 211033368 rs4951671 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951671;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 211033413 rs4951672 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 211033442 rs4951485 A C 104.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951485;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 1 211033446 rs4951673 G T 104.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:132,9,0 1 211034143 rs4951674 T G 385.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.923469\x3bName\x3echr13:24121032;Repeat=.;avsnp150=rs4951674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8393;1000g2015aug_sas=0.771;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.8782;1000g2015aug_amr=0.7104;1000g2015aug_all=0.819888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:414,42,0 1 211093590 rs1501569 C T 310.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.03;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.958;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1501569;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.3701;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.3064;1000g2015aug_amr=0.3847;1000g2015aug_all=0.324081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,10:22:99:339,0,385 1 211107736 rs34618120 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2199\x3bName\x3e"373157:AluSx4(SINE)";avsnp150=rs34618120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.7035;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.5877;1000g2015aug_amr=0.719;1000g2015aug_all=0.680511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 211107756 rs10779546 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2199\x3bName\x3e"373157:AluSx4(SINE)";avsnp150=rs10779546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.659;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.8401;1000g2015aug_all=0.840256;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 211263836 rs17188860 T A 222.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.192;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-1.962;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17188860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0481;1000g2015aug_eur=0.0726;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0305511;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:251,0,286 1 211264140 rs79802694 A G 682.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.617;DP=38;ExcessHet=3.0103;FS=1.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.03;SOR=0.379;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271751.8,ENST00000367007.4;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79802694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.1383;1000g2015aug_all=0.0996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,23:38:99:711,0,381 1 211280783 rs17017216 G A 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.312;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNH1;Func=intronic;Gene=NM_002238,NM_172362;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367007.4,ENST00000271751.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17017216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0109824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 211380444 rs7532911 G T 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.874;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.851;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002238,NM_001136223;GeneDetail=dist\x3e72987\x3bdist\x3e52175;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.924544\x3bName\x3echr15:35121041;Repeat=.;avsnp150=rs7532911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.0821;1000g2015aug_all=0.123403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:99:123,0,893 1 211380445 rs7556054 C T 94.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.711;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.853;SOR=1.675;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002238,NM_001136223;GeneDetail=dist\x3e72988\x3bdist\x3e52174;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.924544\x3bName\x3echr15:35121041;Repeat=.;avsnp150=rs7556054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0129;1000g2015aug_sas=0.2086;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.0821;1000g2015aug_all=0.123403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,4:19:99:123,0,893 1 211380770 rs7525401 T C 4381.77 PASS AC=2;AF=1;AN=2;DP=135;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=1.256;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002238,NM_001136223;GeneDetail=dist\x3e73313\x3bdist\x3e51849;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.2;wgRna=.;genomicSuperDups=Score\x3e0.924544\x3bName\x3echr15:35121041;Repeat=.;avsnp150=rs7525401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.4225;1000g2015aug_afr=0.8411;1000g2015aug_amr=0.4294;1000g2015aug_all=0.544129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,135:135:99:4410,405,0 1 211433672 rs6679980 C T 177.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.125;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367006.8,ENST00000452621.6,ENST00000419091.6,ENST00000367005.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2249;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.0922;1000g2015aug_all=0.157548;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:206,0,289 1 211433737 rs4951734 G T 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367006.8,ENST00000452621.6,ENST00000367005.8,ENST00000419091.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951734;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.885;1000g2015aug_amr=0.9741;1000g2015aug_all=0.958866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 211433753 rs4951735 G A 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367006.8,ENST00000367005.8,ENST00000419091.6,ENST00000452621.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.885;1000g2015aug_amr=0.9741;1000g2015aug_all=0.958866;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 211444382 rs36104032 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000419091.6,ENST00000367005.8,ENST00000452621.6,ENST00000367006.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2414\x3bName\x3e"373832:AluYf1(SINE)";avsnp150=rs36104032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1071;1000g2015aug_sas=0.362;1000g2015aug_eur=0.2982;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.2378;1000g2015aug_all=0.28155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:59:72,0,59 1 211447625 rs11580084 G A 603.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.229;DP=68;ExcessHet=3.0103;FS=2.068;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=2.294;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367005.8,ENST00000419091.6,ENST00000452621.6,ENST00000367006.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11580084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.5764;1000g2015aug_all=0.45607;esp6500siv2_all=0.4729;ExAC_ALL=0.5690;ExAC_AFR=0.2021;ExAC_AMR=0.6292;ExAC_EAS=0.6235;ExAC_FIN=0.6717;ExAC_NFE=0.6151;ExAC_OTH=0.5861;ExAC_SAS=0.4991;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,28:68:99:632,0,1024 1 211449451 rs10732682 A G 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.21;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367006.8,ENST00000419091.6,ENST00000367005.8,ENST00000452621.6;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10732682;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9806;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8843;1000g2015aug_amr=0.9741;1000g2015aug_all=0.954872;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 211452678 rs3767377 G A 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.74;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=1.161;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367005.8,ENST00000419091.6,ENST00000452621.6,ENST00000367006.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.5764;1000g2015aug_all=0.456669;esp6500siv2_all=0.4730;ExAC_ALL=0.5673;ExAC_AFR=0.1985;ExAC_AMR=0.6291;ExAC_EAS=0.6288;ExAC_FIN=0.6708;ExAC_NFE=0.6133;ExAC_OTH=0.5804;ExAC_SAS=0.4961;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,8:22:99:202,0,315 1 211452728 rs3767378 G A 212.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.531;DP=17;ExcessHet=3.0103;FS=9.874;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.073;SOR=3.516;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRCOR3;Func=intronic;Gene=NM_001136223,NM_001136224,NM_001136225,NM_001350069,NM_001350070,NM_018254;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452621.6,ENST00000419091.6,ENST00000367005.8,ENST00000367006.8;cytoBand=1q32.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.4744;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.5764;1000g2015aug_all=0.456669;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:241,0,264 1 211527481 rs4951522 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261464.9,ENST00000336184.6,ENST00000367004.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e207\x3bName\x3e"374013:L2c(LINE)";avsnp150=rs4951522;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.6484;1000g2015aug_all=0.582668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 211527609 rs7530570 C A 362.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336184.6,ENST00000367004.3,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e207\x3bName\x3e"374013:L2c(LINE)";avsnp150=rs7530570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9962;1000g2015aug_amr=1;1000g2015aug_all=0.999002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:391,33,0 1 211529569 rs7550702 T C 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=2.125;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336184.6,ENST00000367004.3,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.5793;1000g2015aug_all=0.472444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:202,0,215 1 211530044 rs4951523 T G 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.18;ReadPosRankSum=-1.687;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336184.6,ENST00000367004.3,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.4918;1000g2015aug_eur=0.5974;1000g2015aug_afr=0.1974;1000g2015aug_amr=0.5793;1000g2015aug_all=0.472444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:83:260,0,83 1 211530090 rs4951744 G A 147.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367004.3,ENST00000336184.6,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6627;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7515;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.6484;1000g2015aug_all=0.582668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:176,15,0 1 211533990 rs67772854 A G 161.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.027;DP=20;ExcessHet=3.0103;FS=7.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-1.741;SOR=0.728;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336184.6,ENST00000367004.3,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67772854;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0466;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.112;1000g2015aug_amr=0.0692;1000g2015aug_all=0.119808;esp6500siv2_all=0.1413;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,10:20:99:190,0,323 1 211545344 rs3738199 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRAF5;Func=intronic;Gene=NM_001033910,NM_001319207,NM_004619,NM_145759;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000336184.6,ENST00000367004.3,ENST00000261464.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738199;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.38;1000g2015aug_sas=0.4755;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.5946;1000g2015aug_amr=0.3862;1000g2015aug_all=0.455671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 211590892 rs1877476 A G 1034.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00467;Func=ncRNA_intronic;Gene=NR_026761;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423222.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1877476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9682;1000g2015aug_afr=0.6989;1000g2015aug_amr=0.9582;1000g2015aug_all=0.905751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1063,84,0 1 211591122 . C T 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.362;DP=48;ExcessHet=3.0103;FS=2.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.114;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00467;Func=ncRNA_intronic;Gene=NR_026761;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423222.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,26:48:99:740,0,536 1 211591135 rs1707247 T C 1454.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.64;QD=31.63;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00467;Func=ncRNA_intronic;Gene=NR_026761;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423222.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1707247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.9654;1000g2015aug_all=0.941494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1483,138,0 1 211607846 rs2995848 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026761,NM_001164688;GeneDetail=dist\x3e1969\x3bdist\x3e42018;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423222.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1602\x3bName\x3e"374181:AluJr(SINE)";avsnp150=rs2995848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9836;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.9597;1000g2015aug_all=0.917133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 211607847 rs2920910 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026761,NM_001164688;GeneDetail=dist\x3e1970\x3bdist\x3e42017;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000423222.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1602\x3bName\x3e"374181:AluJr(SINE)";avsnp150=rs2920910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.9597;1000g2015aug_all=0.917532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 211615935 rs1707267 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_026761,NM_001164688;GeneDetail=dist\x3e10058\x3bdist\x3e33929;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1707267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9692;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.9769;1000g2015aug_all=0.970647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 211749734 rs3738198 G C 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A1;Func=intronic;Gene=NM_021194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000367001.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1915;1000g2015aug_sas=0.226;1000g2015aug_eur=0.1233;1000g2015aug_afr=0.2413;1000g2015aug_amr=0.1095;1000g2015aug_all=0.186302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 211752148 rs11810058 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.453;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_021194;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11\x3bName\x3e"374522:(CGCCGCG)n(Simple_repeat)";avsnp150=rs11810058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1845;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.1124;1000g2015aug_all=0.182907;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 211951288 rs72746524 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLPGAT1;Func=intronic;Gene=NM_001320808,NM_014873;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366997.8,ENST00000366996.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4120\x3bName\x3e"374966:MER41A(LTR)";avsnp150=rs72746524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.0363;1000g2015aug_amr=0.1772;1000g2015aug_all=0.140775;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212029672 rs150903009 G A 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.328;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135820,NM_001199809;GeneDetail=dist\x3e2627\x3bdist\x3e84069;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9743\x3bName\x3e"375155:HERV17-int(LTR)";avsnp150=rs150903009;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0203674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:112,0,104 1 212030216 rs28778433 C G 611.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135820,NM_001199809;GeneDetail=dist\x3e3171\x3bdist\x3e83525;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e9743\x3bName\x3e"375155:HERV17-int(LTR)";avsnp150=rs28778433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.9864;1000g2015aug_amr=0.9928;1000g2015aug_all=0.980232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:640,63,0 1 212052233 rs4442424 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135820,NM_001199809;GeneDetail=dist\x3e25188\x3bdist\x3e61508;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4442424;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9524;1000g2015aug_sas=0.865;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.9955;1000g2015aug_amr=0.9827;1000g2015aug_all=0.945487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212109825 rs2993541 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135820,NM_001199809;GeneDetail=dist\x3e82780\x3bdist\x3e3916;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2993541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.667;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.5173;1000g2015aug_all=0.564297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212209034 rs17018373 G A 897.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.878;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.7;ReadPosRankSum=0.072;SOR=0.883;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=UTR5;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=NM_001286229:c.-31190G>A\x3bNM_001286230:c.-199G>A\x3bNM_016448:c.-199G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366991.4,ENST00000542077.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17018373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0228;1000g2015aug_sas=0.0337;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.034;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0395367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,26:48:99:926,0,774 1 212225343 rs2993547 T C 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPL21P28,DTL;Func=ncRNA_exonic;Gene=NR_026911;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542077.5,ENST00000366991.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2993547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 212236157 rs4951436 G T 1369.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=2.191;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=intronic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542077.5,ENST00000366991.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.955;1000g2015aug_eur=0.9374;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.987;1000g2015aug_all=0.938898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1398,120,0 1 212240063 rs3738449 G A 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.375;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=intronic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542077.5,ENST00000366991.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5754;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.331;1000g2015aug_afr=0.4955;1000g2015aug_amr=0.4669;1000g2015aug_all=0.451478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,292 1 212251103 rs6658972 A G 96.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=intronic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366991.4,ENST00000542077.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658972;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9228;1000g2015aug_amr=0.9957;1000g2015aug_all=0.96246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:124,9,0 1 212269042 rs6540717 T A 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=intronic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542077.5,ENST00000366991.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18313\x3bName\x3e"375620:L1PB1(LINE)";avsnp150=rs6540717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9957;1000g2015aug_all=0.959465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 212273639 rs3135474 C T 951.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=exonic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DTL:NM_001286229:exon12:c.C494T:p.A165V,DTL:NM_001286230:exon13:c.C1181T:p.A394V,DTL:NM_016448:exon14:c.C1307T:p.A436V;Gencode=Name\x3eENST00000366991.4,ENST00000542077.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3135474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9571;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.9957;1000g2015aug_all=0.959465;esp6500siv2_all=0.9493;ExAC_ALL=0.9627;ExAC_AFR=0.9216;ExAC_AMR=0.9827;ExAC_EAS=0.9994;ExAC_FIN=0.9723;ExAC_NFE=0.9630;ExAC_OTH=0.9557;ExAC_SAS=0.9495;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.103;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.69;MutationAssessor_pred=N;FATHMM_score=-0.52;FATHMM_pred=T;phyloP100way_vertebrate=0.081;phyloP20way_mammalian=-0.208;SiPhy_29way_logOdds=11.762;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:980,90,0 1 212274413 rs6540718 A C 1435.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=1.662;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDTL;Func=exonic;Gene=NM_001286229,NM_001286230,NM_016448;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DTL:NM_001286229:exon12:c.A1268C:p.K423T,DTL:NM_001286230:exon13:c.A1955C:p.K652T,DTL:NM_016448:exon14:c.A2081C:p.K694T;Gencode=Name\x3eENST00000366991.4,ENST00000542077.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6540718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9891;1000g2015aug_afr=1;1000g2015aug_amr=0.9971;1000g2015aug_all=0.996605;esp6500siv2_all=0.9906;ExAC_ALL=0.9887;ExAC_AFR=0.9979;ExAC_AMR=0.9933;ExAC_EAS=1;ExAC_FIN=0.9853;ExAC_NFE=0.9840;ExAC_OTH=0.9877;ExAC_SAS=0.9952;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.525;MutationAssessor_pred=N;FATHMM_score=-0.46;FATHMM_pred=T;phyloP100way_vertebrate=-0.676;phyloP20way_mammalian=0.067;SiPhy_29way_logOdds=5.714;gerp++gt2=2.71;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1464,131,0 1 212459015 rs17042034 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=UTR5;Gene=NM_006243;GeneDetail=NM_006243:c.-438G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17042034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.3231;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.3516;1000g2015aug_all=0.279153;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212482476 rs79503849 G T 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-2.2;QD=3.86;ReadPosRankSum=-0.549;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000442146.1,ENST00000537030.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79503849;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,1067 1 212482489 . G C 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-2.2;QD=3.86;ReadPosRankSum=-0.282;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000537030.3,ENST00000442146.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,1067 1 212482496 . G A 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-2.2;QD=3.86;ReadPosRankSum=-0.549;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000442146.1,ENST00000537030.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,1067 1 212482503 . T C 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-2.2;QD=3.86;ReadPosRankSum=-0.549;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442146.1,ENST00000537030.3,ENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,1067 1 212482504 . G A 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.51;MQRankSum=-2.2;QD=3.86;ReadPosRankSum=-0.549;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537030.3,ENST00000442146.1,ENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,2:9:63:63,0,1067 1 212482852 rs351380 C T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442146.1,ENST00000537030.3,ENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs351380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.316;1000g2015aug_eur=0.3678;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.3516;1000g2015aug_all=0.282149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 212503220 rs1774253 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000537030.3,ENST00000442146.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2393\x3bName\x3e"376187:AluSg7(SINE)";avsnp150=rs1774253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.817;1000g2015aug_all=0.822484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 212503222 rs1774252 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000442146.1,ENST00000537030.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2393\x3bName\x3e"376187:AluSg7(SINE)";avsnp150=rs1774252;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.817;1000g2015aug_all=0.822484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 212503228 rs792434 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000442146.1,ENST00000537030.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2393\x3bName\x3e"376187:AluSg7(SINE)";avsnp150=rs792434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.6902;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.9773;1000g2015aug_amr=0.817;1000g2015aug_all=0.822484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 212515613 rs1774249 C T 1233.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=exonic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PPP2R5A:NM_001199756:exon4:c.C393T:p.F131F,PPP2R5A:NM_006243:exon4:c.C564T:p.F188F;Gencode=Name\x3eENST00000537030.3,ENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1774249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2837;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.34;1000g2015aug_afr=0.1853;1000g2015aug_amr=0.33;1000g2015aug_all=0.28155;esp6500siv2_all=0.3061;ExAC_ALL=0.3279;ExAC_AFR=0.2090;ExAC_AMR=0.3601;ExAC_EAS=0.2972;ExAC_FIN=0.2399;ExAC_NFE=0.3520;ExAC_OTH=0.2892;ExAC_SAS=0.3364;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1262,120,0 1 212521639 rs701908 T G 529.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000537030.3,ENST00000261461.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs701908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.8141;1000g2015aug_all=0.8125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:558,45,0 1 212526288 rs792442 C T 2076.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=1.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A,SNORA16B;Func=ncRNA_exonic;Gene=NR_004389;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000364674.1,ENST00000537030.3;cytoBand=1q32.3;wgRna=Name\x3eU98b;genomicSuperDups=.;Repeat=.;avsnp150=rs792442;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7768;1000g2015aug_sas=0.683;1000g2015aug_eur=0.7535;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.7997;1000g2015aug_all=0.802915;esp6500siv2_all=0.8268;ExAC_ALL=0.7790;ExAC_AFR=0.9369;ExAC_AMR=0.7991;ExAC_EAS=0.7822;ExAC_FIN=0.7517;ExAC_NFE=0.7814;ExAC_OTH=0.7304;ExAC_SAS=0.6886;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:2105,183,0 1 212530192 rs792439 T C 1784.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=2.256;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePPP2R5A;Func=intronic;Gene=NM_001199756,NM_006243;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261461.6,ENST00000537030.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs792439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9791;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9899;1000g2015aug_all=0.993411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1813,147,0 1 212553111 rs701905 G C 981.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=5.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM206;Func=intronic;Gene=NM_001198862,NM_018252;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000261455.8,ENST00000535273.2;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs701905;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1151;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.336;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.2608;1000g2015aug_all=0.194688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1010,75,0 1 212588206 rs518793 C G 2976.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.45;SOR=2.276;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM206;Func=UTR5;Gene=NM_001198862,NM_018252;GeneDetail=NM_001198862:c.-107G>C\x3bNM_018252:c.-107G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535273.2,ENST00000261455.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs518793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.1554;1000g2015aug_eur=0.335;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.2406;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:3005,267,0 1 212615875 rs521469 T C 371.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.497;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=2.034;SOR=0.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNENF;Func=intronic;Gene=NM_013349;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366988.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs521469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.562;1000g2015aug_all=0.473043;esp6500siv2_all=0.4266;ExAC_ALL=0.4270;ExAC_AFR=0.5007;ExAC_AMR=0.6459;ExAC_EAS=0.6808;ExAC_FIN=0.2748;ExAC_NFE=0.3965;ExAC_OTH=0.3822;ExAC_SAS=0.2809;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:400,0,419 1 212617520 rs66912346 G T 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.765;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.464;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNENF;Func=intronic;Gene=NM_013349;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366988.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66912346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.1873;1000g2015aug_all=0.199081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,128 1 212617829 rs2275712 C G 979.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.469;DP=74;ExcessHet=3.0103;FS=3.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.195;SOR=1.234;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNENF;Func=intronic;Gene=NM_013349;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366988.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"376413:(TCCTTT)n(Simple_repeat)";avsnp150=rs2275712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.272;1000g2015aug_eur=0.2873;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.2925;1000g2015aug_all=0.277356;esp6500siv2_all=0.2931;ExAC_ALL=0.2898;ExAC_AFR=0.2905;ExAC_AMR=0.3354;ExAC_EAS=0.2695;ExAC_FIN=0.1373;ExAC_NFE=0.3009;ExAC_OTH=0.2854;ExAC_SAS=0.2849;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,38:74:99:1008,0,911 1 212619009 rs2282435 C A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.431;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNENF;Func=intronic;Gene=NM_013349;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366988.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.1452;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.1873;1000g2015aug_all=0.19988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,126 1 212619339 rs4804 T C 1460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.177;DP=112;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.477;SOR=0.624;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNENF;Func=exonic;Gene=NM_013349;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NENF:NM_013349:exon4:c.T510C:p.D170D;Gencode=Name\x3eENST00000366988.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.3016;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.4939;1000g2015aug_amr=0.5605;1000g2015aug_all=0.479233;esp6500siv2_all=0.4323;ExAC_ALL=0.4287;ExAC_AFR=0.5011;ExAC_AMR=0.6479;ExAC_EAS=0.6804;ExAC_FIN=0.2747;ExAC_NFE=0.3948;ExAC_OTH=0.3852;ExAC_SAS=0.2985;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,56:112:99:1489,0,1467 1 212659654 rs12141407 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e39933\x3bdist\x3e59382;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1667;1000g2015aug_sas=0.1994;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.304;1000g2015aug_all=0.271565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212692029 rs35437356 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e72308\x3bdist\x3e27007;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35437356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.1421;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.0965;1000g2015aug_all=0.133786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 212692030 rs647731 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e72309\x3bdist\x3e27006;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs647731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.772;1000g2015aug_eur=0.7873;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.8213;1000g2015aug_all=0.841653;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 212694370 rs580961 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e74649\x3bdist\x3e24666;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1933\x3bName\x3e"376593:AluJb(SINE)";avsnp150=rs580961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.7695;1000g2015aug_all=0.783746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 212703287 rs6702959 T C 46.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e83566\x3bdist\x3e15749;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6702959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.7651;1000g2015aug_all=0.783147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:74,9,0 1 212712891 rs66883774 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_013349,NR_125985;GeneDetail=dist\x3e93170\x3bdist\x3e6145;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e788\x3bName\x3e"376631:L2a(LINE)";avsnp150=rs66883774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.1815;1000g2015aug_amr=0.1412;1000g2015aug_all=0.145767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 212797890 rs7533306 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM71A;Func=UTR5;Gene=NM_153606;GeneDetail=NM_153606:c.-330A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000294829.4,ENST00000427949.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7533306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.6513;1000g2015aug_eur=0.7266;1000g2015aug_afr=0.7231;1000g2015aug_amr=0.6758;1000g2015aug_all=0.646366;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212798977 rs3122712 A G 1515.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.785;DP=87;ExcessHet=3.0103;FS=6.965;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=0.809;SOR=0.366;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM71A;Func=exonic;Gene=NM_153606;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM71A:NM_153606:exon1:c.A758G:p.N253S;Gencode=Name\x3eENST00000294829.4,ENST00000427949.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0804;1000g2015aug_sas=0.1871;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.4554;1000g2015aug_amr=0.196;1000g2015aug_all=0.252995;esp6500siv2_all=0.3404;ExAC_ALL=0.2566;ExAC_AFR=0.4426;ExAC_AMR=0.1965;ExAC_EAS=0.0829;ExAC_FIN=0.1733;ExAC_NFE=0.2756;ExAC_OTH=0.25;ExAC_SAS=0.2300;SIFT_score=0.743;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.24;MutationAssessor_pred=N;FATHMM_score=3.99;FATHMM_pred=T;phyloP100way_vertebrate=-0.240;phyloP20way_mammalian=-1.335;SiPhy_29way_logOdds=1.768;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,49:87:99:1544,0,1059 1 212799870 rs3122713 A G 2127.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.341;DP=177;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.457;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM71A;Func=exonic;Gene=NM_153606;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM71A:NM_153606:exon1:c.A1651G:p.N551D;Gencode=Name\x3eENST00000294829.4,ENST00000427949.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.841;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.755;1000g2015aug_all=0.784145;esp6500siv2_all=0.8408;ExAC_ALL=0.8335;ExAC_AFR=0.7890;ExAC_AMR=0.7930;ExAC_EAS=0.6499;ExAC_FIN=0.8813;ExAC_NFE=0.8584;ExAC_OTH=0.8381;ExAC_SAS=0.8656;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.24;MutationAssessor_pred=N;FATHMM_score=4.7;FATHMM_pred=T;phyloP100way_vertebrate=0.015;phyloP20way_mammalian=-0.221;SiPhy_29way_logOdds=6.564;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:97,80:177:99:2156,0,2695 1 212804130 rs3122715 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_153606,NM_018664;GeneDetail=dist\x3e4010\x3bdist\x3e55629;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3122715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.9885;1000g2015aug_all=0.955671;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 212870103 rs2456815 C G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=3.126;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBATF3;Func=intronic;Gene=NM_018664;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000243440.1;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e209\x3bName\x3e"376939:L2(LINE)";avsnp150=rs2456815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.913;1000g2015aug_amr=0.9986;1000g2015aug_all=0.976637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 212900463 rs41315583 G A 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=UTR3;Gene=NM_001042549,NM_001297736,NM_001297737,NM_001297739,NM_015471;GeneDetail=NM_001042549:c.*11576C>T\x3bNM_001297736:c.*11287C>T\x3bNM_001297737:c.*11546C>T\x3bNM_001297739:c.*21C>T\x3bNM_015471:c.*11287C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366978.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41315583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.0726;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.036;1000g2015aug_all=0.0658946;esp6500siv2_all=0.0957;ExAC_ALL=0.0976;ExAC_AFR=0.2322;ExAC_AMR=0.1033;ExAC_EAS=0;ExAC_FIN=0.0643;ExAC_NFE=0.1228;ExAC_OTH=0.0788;ExAC_SAS=0.0220;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 212900487 rs2244935 A G 328.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=exonic;Gene=NM_001297739;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NSL1:NM_001297739:exon5:c.T534C:p.V178V;Gencode=Name\x3eENST00000366978.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8938;1000g2015aug_sas=0.8885;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9611;1000g2015aug_all=0.909944;esp6500siv2_all=0.9143;ExAC_ALL=0.9154;ExAC_AFR=0.9194;ExAC_AMR=0.9671;ExAC_EAS=0.9022;ExAC_FIN=0.9214;ExAC_NFE=0.9136;ExAC_OTH=0.9092;ExAC_SAS=0.8932;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:357,33,0 1 212911836 rs15702 T C 1508.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.03;SOR=1.9;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=exonic;Gene=NM_001297736,NM_015471;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NSL1:NM_001297736:exon4:c.A637G:p.M213V,NSL1:NM_015471:exon6:c.A760G:p.M254V;Gencode=Name\x3eENST00000366978.5,ENST00000366976.3,ENST00000366977.7;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.4438;1000g2015aug_all=0.607428;esp6500siv2_all=0.6785;ExAC_ALL=0.6402;ExAC_AFR=0.6723;ExAC_AMR=0.3624;ExAC_EAS=0.5234;ExAC_FIN=0.7456;ExAC_NFE=0.6921;ExAC_OTH=0.6256;ExAC_SAS=0.6245;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.186;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.59;MutationAssessor_pred=N;FATHMM_score=1.85;FATHMM_pred=T;phyloP100way_vertebrate=-3.803;phyloP20way_mammalian=-2.388;SiPhy_29way_logOdds=1.497;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1537,126,0 1 212947520 rs10863997 G A 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=intronic;Gene=NM_001042549,NM_001297736,NM_001297737,NM_001297739,NM_015471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366976.3,ENST00000366978.5,ENST00000626725.1,ENST00000366977.7;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e10198\x3bName\x3e"377108:L1MA3(LINE)";avsnp150=rs10863997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1419;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.2958;1000g2015aug_amr=0.1081;1000g2015aug_all=0.1877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 212955454 rs11120026 G A 759.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.468;DP=74;ExcessHet=3.0103;FS=6.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.312;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=intronic;Gene=NM_001042549,NM_001297736,NM_001297737,NM_001297739,NM_015471;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000626725.1,ENST00000366978.5,ENST00000366976.3,ENST00000366977.7;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.1916;1000g2015aug_all=0.27476;esp6500siv2_all=0.3094;ExAC_ALL=0.3549;ExAC_AFR=0.1167;ExAC_AMR=0.1977;ExAC_EAS=0.3575;ExAC_FIN=0.5330;ExAC_NFE=0.4013;ExAC_OTH=0.3768;ExAC_SAS=0.3341;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,31:74:99:788,0,1217 1 212965095 rs17856201 G A 1021.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.773;DP=73;ExcessHet=3.0103;FS=0.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.532;SOR=0.559;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNSL1;Func=exonic;Gene=NM_001042549,NM_001297736,NM_001297737,NM_001297739,NM_015471;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NSL1:NM_001042549:exon1:c.C11T:p.S4F,NSL1:NM_001297736:exon1:c.C11T:p.S4F,NSL1:NM_001297737:exon1:c.C11T:p.S4F,NSL1:NM_001297739:exon1:c.C11T:p.S4F,NSL1:NM_015471:exon1:c.C11T:p.S4F;Gencode=Name\x3eENST00000366977.7,ENST00000626725.1,ENST00000366976.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17856201;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.1081;1000g2015aug_all=0.1873;esp6500siv2_all=0.1798;ExAC_ALL=0.1558;ExAC_AFR=0.2971;ExAC_AMR=0.0988;ExAC_EAS=0.1498;ExAC_FIN=0.1057;ExAC_NFE=0.1502;ExAC_OTH=0.1318;ExAC_SAS=0.1547;SIFT_score=0.143;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.918;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=1.44;FATHMM_pred=T;phyloP100way_vertebrate=-1.214;phyloP20way_mammalian=-0.267;SiPhy_29way_logOdds=4.216;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,40:73:99:1050,0,1077 1 212965284 rs61736926 C G 622.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.024;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.243;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=exonic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TATDN3:NM_001042552:exon1:c.C21G:p.G7G,TATDN3:NM_001042553:exon1:c.C21G:p.G7G,TATDN3:NM_001146169:exon1:c.C21G:p.G7G,TATDN3:NM_001146170:exon1:c.C21G:p.G7G,TATDN3:NM_001146171:exon1:c.C21G:p.G7G;Gencode=Name\x3eENST00000532324.5,ENST00000526997.5,ENST00000526641.5,ENST00000530441.5,ENST00000366973.8,ENST00000531963.5,ENST00000366974.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61736926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.226;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.1196;1000g2015aug_all=0.227835;esp6500siv2_all=0.2242;ExAC_ALL=0.1751;ExAC_AFR=0.3813;ExAC_AMR=0.0959;ExAC_EAS=0.1597;ExAC_FIN=0.1108;ExAC_NFE=0.1617;ExAC_OTH=0.1568;ExAC_SAS=0.1920;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,27:63:99:651,0,939 1 212965469 rs3738798 C T 151.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.818;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=1.682;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=intronic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000532324.5,ENST00000526997.5,ENST00000531963.5,ENST00000366974.8,ENST00000366973.8,ENST00000530441.5,ENST00000526641.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.227;1000g2015aug_eur=0.1809;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.1326;1000g2015aug_all=0.235423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:180,0,479 1 212967871 rs1813705 G T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=intronic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526997.5,ENST00000532324.5,ENST00000366974.8,ENST00000531963.5,ENST00000366973.8,ENST00000530441.5,ENST00000526641.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2180\x3bName\x3e"377155:AluSq2(SINE)";avsnp150=rs1813705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.5469;1000g2015aug_amr=0.4337;1000g2015aug_all=0.601438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 212970375 rs1284800 A G 587.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=intronic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526997.5,ENST00000532324.5,ENST00000526641.5,ENST00000530441.5,ENST00000366973.8,ENST00000366974.8,ENST00000531963.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1999\x3bName\x3e"377163:AluSz6(SINE)";avsnp150=rs1284800;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.9986;1000g2015aug_all=0.978035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:616,54,0 1 212975778 rs4951639 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=intronic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366973.8,ENST00000366974.8,ENST00000531963.5,ENST00000526641.5,ENST00000530441.5,ENST00000526997.5,ENST00000532324.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4951639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.4438;1000g2015aug_all=0.631789;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 212978197 rs1532951 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.431;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTATDN3;Func=intronic;Gene=NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000532324.5,ENST00000526997.5,ENST00000526641.5,ENST00000531963.5,ENST00000366974.8,ENST00000366973.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1532951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.2004;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.0922;1000g2015aug_all=0.195487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 212997385 rs10864002 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001146169,NM_001024601;GeneDetail=dist\x3e7218\x3bdist\x3e6100;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864002;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6389;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.6869;1000g2015aug_afr=0.6437;1000g2015aug_amr=0.4409;1000g2015aug_all=0.628994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 213003372 rs12133194 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001024601;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.6616;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.643;1000g2015aug_amr=0.4352;1000g2015aug_all=0.623003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 213009469 rs10864004 A G 1082.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=1.547;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA45;Func=exonic;Gene=NM_001024601;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA45:NM_001024601:exon2:c.T23C:p.I8T;Gencode=Name\x3eENST00000332912.3;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5407;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.7943;1000g2015aug_amr=0.464;1000g2015aug_all=0.660543;esp6500siv2_all=0.7376;ExAC_ALL=0.6720;ExAC_AFR=0.7936;ExAC_AMR=0.3790;ExAC_EAS=0.5389;ExAC_FIN=0.7998;ExAC_NFE=0.7228;ExAC_OTH=0.6520;ExAC_SAS=0.6145;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.041;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.97;FATHMM_pred=T;phyloP100way_vertebrate=-4.616;phyloP20way_mammalian=-2.318;SiPhy_29way_logOdds=3.346;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1111,108,0 1 213031158 rs1047881 C T 1337.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1-AS1;Func=ncRNA_exonic;Gene=NR_027285,NR_027286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000426161.5,ENST00000356684.7;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1047881;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.44389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1366,131,0 1 213031350 rs2220949 C T 1305.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=1.04;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1-AS1;Func=ncRNA_exonic;Gene=NR_027285,NR_027286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000356684.7,ENST00000426161.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e950\x3bName\x3e"377350:MER41D(LTR)";avsnp150=rs2220949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.444688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1334,114,0 1 213031448 rs2201601 G C 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.364;DP=41;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.51;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1-AS1;Func=ncRNA_exonic;Gene=NR_027285,NR_027286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2201601;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.4642;1000g2015aug_afr=0.0923;1000g2015aug_amr=0.2507;1000g2015aug_all=0.344449;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,22:41:99:524,0,451 1 213031473 rs2201602 A C 1303.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=1.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1-AS1;Func=ncRNA_exonic;Gene=NR_027285,NR_027286;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2201602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.444688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1332,108,0 1 213031709 rs2201603 C T 530.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=UTR5;Gene=NM_014053;GeneDetail=NM_014053:c.-86C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2201603;cosmic70=.;CLNALLELEID=278979;CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3084;1000g2015aug_all=0.444089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:559,48,0 1 213031948 rs11120047 G C 1412.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=0.829;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=exonic;Gene=NM_014053;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FLVCR1:NM_014053:exon1:c.G154C:p.A52P;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120047;cosmic70=.;CLNALLELEID=134548;CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa|not_specified;CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.444489;esp6500siv2_all=0.3946;ExAC_ALL=0.5741;ExAC_AFR=0.3407;ExAC_AMR=0.4388;ExAC_EAS=0.6319;ExAC_FIN=0.75;ExAC_NFE=0.5842;ExAC_OTH=0.6667;ExAC_SAS=0.6108;SIFT_score=0.299;SIFT_pred=T;Polyphen2_HDIV_score=0.072;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.043;Polyphen2_HVAR_pred=B;LRT_score=0.617;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-1.7;FATHMM_pred=D;phyloP100way_vertebrate=4.962;phyloP20way_mammalian=-0.264;SiPhy_29way_logOdds=10.146;gerp++gt2=3.17;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1441,135,0 1 213032568 rs12023052 T A 4572.77 PASS AC=2;AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12023052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.2156;1000g2015aug_amr=0.2896;1000g2015aug_all=0.421126;esp6500siv2_all=0.4237;ExAC_ALL=0.4764;ExAC_AFR=0.2674;ExAC_AMR=0.2879;ExAC_EAS=0.5295;ExAC_FIN=0.6169;ExAC_NFE=0.5188;ExAC_OTH=0.4834;ExAC_SAS=0.4800;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,144:144:99:4601,431,0 1 213032826 rs3768551 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2094\x3bName\x3e"377353:AluSx1(SINE)";avsnp150=rs3768551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5456;1000g2015aug_sas=0.6053;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3112;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 213036987 rs6677411 C T 173.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.016;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.121;1000g2015aug_amr=0.036;1000g2015aug_all=0.0764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:202,0,214 1 213056819 rs2644547 A G 1731.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644547;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9856;1000g2015aug_amr=1;1000g2015aug_all=0.996206;esp6500siv2_all=0.9958;ExAC_ALL=0.9988;ExAC_AFR=0.9872;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,58:58:99:1760,174,0 1 213056892 rs12125982 A G 1441.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.067;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12125982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.5268;1000g2015aug_afr=0.2262;1000g2015aug_amr=0.2896;1000g2015aug_all=0.42512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1470,144,0 1 213058852 rs7536716 T A 757.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3112;1000g2015aug_all=0.445887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:786,54,0 1 213058871 rs7522693 C G 595.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3112;1000g2015aug_all=0.445687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:42:624,42,0 1 213060011 rs11120059 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2014\x3bName\x3e"377420:AluSx1(SINE)";avsnp150=rs11120059;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5536;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3112;1000g2015aug_all=0.445887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 213062067 rs10864022 T C 259.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1750\x3bName\x3e"377423:AluJo(SINE)";avsnp150=rs10864022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5486;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.3084;1000g2015aug_all=0.444489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:288,21,0 1 213062158 rs10779595 T C 104.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1750\x3bName\x3e"377423:AluJo(SINE)";avsnp150=rs10779595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.445088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 1 213062180 rs11120060 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1750\x3bName\x3e"377423:AluJo(SINE)";avsnp150=rs11120060;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3084;1000g2015aug_all=0.445088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 213062930 rs2047290 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2063\x3bName\x3e"377424:AluSz(SINE)";avsnp150=rs2047290;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.5666;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.4409;1000g2015aug_all=0.486222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 213068192 rs2792558 T C 131.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2792558;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.8957;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.9024;1000g2015aug_amr=0.9611;1000g2015aug_all=0.930911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:160,15,0 1 213068233 rs12408694 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.803;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=intronic;Gene=NM_014053;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12408694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.3011;1000g2015aug_amr=0.7695;1000g2015aug_all=0.663538;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,224 1 213068595 rs3207090 C T 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.693;DP=64;ExcessHet=3.0103;FS=5.147;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.564;SOR=1.38;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=exonic;Gene=NM_014053;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FLVCR1:NM_014053:exon10:c.C1631T:p.T544M;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3207090;cosmic70=.;CLNALLELEID=134549;CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa|not_specified;CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.5;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2781;1000g2015aug_all=0.379393;esp6500siv2_all=0.3849;ExAC_ALL=0.4492;ExAC_AFR=0.1944;ExAC_AMR=0.2673;ExAC_EAS=0.4787;ExAC_FIN=0.5869;ExAC_NFE=0.4896;ExAC_OTH=0.4681;ExAC_SAS=0.5024;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.863;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.198;Polyphen2_HVAR_pred=B;LRT_score=0.159;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.95;MutationAssessor_pred=M;FATHMM_score=-1.63;FATHMM_pred=D;phyloP100way_vertebrate=-0.572;phyloP20way_mammalian=-0.538;SiPhy_29way_logOdds=3.348;gerp++gt2=.;CADD=0.892;CADD_Phred=10.03;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,31:64:99:837,0,795 1 213068971 rs12074192 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFLVCR1;Func=UTR3;Gene=NM_014053;GeneDetail=NM_014053:c.*339T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366971.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12074192;cosmic70=.;CLNALLELEID=279016;CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9038;1000g2015aug_sas=0.8057;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.3018;1000g2015aug_amr=0.7695;1000g2015aug_all=0.663738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 213124871 rs3123305 G A 729.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.508;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=UTR5;Gene=NM_001301056,NM_024749;GeneDetail=NM_001301056:c.-14G>A\x3bNM_024749:c.-14G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366965.6,ENST00000366967.6,ENST00000366966.6,ENST00000366964.7,ENST00000366968.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3123305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.2378;1000g2015aug_all=0.304113;esp6500siv2_all=0.3003;ExAC_ALL=0.5847;ExAC_AFR=0.25;ExAC_AMR=0.5294;ExAC_EAS=0.5857;ExAC_FIN=0.75;ExAC_NFE=0.6041;ExAC_OTH=0.7143;ExAC_SAS=0.6179;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:758,63,0 1 213139502 rs115058884 G A 315.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.279;DP=25;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.904;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000517399.2,ENST00000366965.6,ENST00000366968.8,ENST00000366966.6,ENST00000366964.7,ENST00000366967.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115058884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0245607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:344,0,248 1 213139748 rs3738805 T G 1253.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000517399.2,ENST00000366965.6,ENST00000366966.6,ENST00000366964.7,ENST00000366968.8,ENST00000366967.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738805;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.635;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.6536;1000g2015aug_amr=0.5058;1000g2015aug_all=0.609225;esp6500siv2_all=0.6001;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1282,114,0 1 213140362 rs10779597 G A 770.77 PASS AC=1;AF=0.5;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000517399.2,ENST00000366965.6,ENST00000366968.8,ENST00000366966.6,ENST00000366964.7,ENST00000366967.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1551\x3bName\x3e"377591:AluSz(SINE)";avsnp150=rs10779597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0726;1000g2015aug_amr=0.2622;1000g2015aug_all=0.332468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/0:0,14:25:99:799,324,282 1 213140362 rs10779597 G C 770.77 PASS AC=1;AF=0.5;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366967.6,ENST00000366964.7,ENST00000366966.6,ENST00000366968.8,ENST00000366965.6,ENST00000517399.2;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1551\x3bName\x3e"377591:AluSz(SINE)";avsnp150=rs10779597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0613;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0245607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:0,11:25:99:799,475,441 1 213140398 rs10779598 A C 1183.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000517399.2,ENST00000366965.6,ENST00000366966.6,ENST00000366964.7,ENST00000366968.8,ENST00000366967.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.545;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.205;1000g2015aug_amr=0.3545;1000g2015aug_all=0.420927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1212,114,0 1 213140669 rs6689669 C T 65.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366964.7,ENST00000366966.6,ENST00000366968.8,ENST00000366967.6,ENST00000517399.2,ENST00000366965.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6689669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6687;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.5388;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.5922;1000g2015aug_all=0.637181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 213146944 rs7511930 A G 868.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.697;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366965.6,ENST00000517399.2,ENST00000366967.6,ENST00000366966.6,ENST00000366968.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7511930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.789;1000g2015aug_amr=0.6585;1000g2015aug_all=0.675919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:897,78,0 1 213147400 rs35976699 G A 661.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.69;DP=30;ExcessHet=3.0103;FS=6.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=0.141;SOR=1.492;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=exonic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=VASH2:NM_024749:exon5:c.G851A:p.R284Q,VASH2:NM_001136475:exon6:c.G671A:p.R224Q,VASH2:NM_001301056:exon7:c.G983A:p.R328Q,VASH2:NM_001136474:exon8:c.G788A:p.R263Q;Gencode=Name\x3eENST00000366966.6,ENST00000366968.8,ENST00000366967.6,ENST00000517399.2,ENST00000366965.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35976699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0303;1000g2015aug_all=0.0231629;esp6500siv2_all=0.0216;ExAC_ALL=0.0272;ExAC_AFR=0.0066;ExAC_AMR=0.0223;ExAC_EAS=0.0001;ExAC_FIN=0.0043;ExAC_NFE=0.0290;ExAC_OTH=0.0283;ExAC_SAS=0.0612;SIFT_score=0.059;SIFT_pred=T;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.980;MutationTaster_pred=D;MutationAssessor_score=1.87;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=3.107;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=11.569;gerp++gt2=3.96;CADD=4.339;CADD_Phred=24.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,22:30:99:690,0,176 1 213161831 rs61832445 A G 474.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.399;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.503;SOR=0.53;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eVASH2;Func=intronic;Gene=NM_001136474,NM_001136475,NM_001301056,NM_024749;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366968.8,ENST00000366966.6,ENST00000366967.6,ENST00000517399.2,ENST00000366965.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61832445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0278;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0517;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0245607;esp6500siv2_all=0.0403;ExAC_ALL=0.0358;ExAC_AFR=0.0094;ExAC_AMR=0.0287;ExAC_EAS=0.0221;ExAC_FIN=0.0180;ExAC_NFE=0.0495;ExAC_OTH=0.03;ExAC_SAS=0.0165;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,21:42:99:503,0,532 1 213173457 rs3738806 C T 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.174;DP=25;ExcessHet=3.0103;FS=5.055;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.312;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANGEL2;Func=intronic;Gene=NM_001300753,NM_001300755,NM_001300757,NM_001300758,NM_144567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535388.2,ENST00000366962.7,ENST00000360506.6;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e652\x3bName\x3e"377638:MIRb(SINE)";avsnp150=rs3738806;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5268;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.3732;1000g2015aug_all=0.413938;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,9:25:99:244,0,513 1 213178340 rs11120076 G A 535.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.757;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.048;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANGEL2;Func=intronic;Gene=NM_001300753,NM_001300755,NM_001300757,NM_001300758,NM_144567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360506.6,ENST00000366962.7,ENST00000535388.2;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.589;1000g2015aug_eur=0.6461;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.3732;1000g2015aug_all=0.413938;esp6500siv2_all=0.4567;ExAC_ALL=0.5451;ExAC_AFR=0.1059;ExAC_AMR=0.3375;ExAC_EAS=0.5237;ExAC_FIN=0.6494;ExAC_NFE=0.6311;ExAC_OTH=0.5910;ExAC_SAS=0.5941;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,21:46:99:564,0,758 1 213181381 rs3124666 G T 53.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eANGEL2;Func=intronic;Gene=NM_001300753,NM_001300755,NM_001300757,NM_001300758,NM_144567;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360506.6,ENST00000366962.7,ENST00000621746.1,ENST00000535388.2;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2412\x3bName\x3e"377649:AluSp(SINE)";avsnp150=rs3124666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:81,6,0 1 213199980 rs61834071 A G 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.189;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.566;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001300757,NM_012424;GeneDetail=dist\x3e10763\x3bdist\x3e24595;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e43986\x3bName\x3e"377690:HERVK9-int(LTR)";avsnp150=rs61834071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0457;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0403;1000g2015aug_all=0.0227636;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:78:104,0,78 1 213224719 rs4951476 T C 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.655;DP=51;ExcessHet=3.0103;FS=1.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.423;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KC1;Func=UTR5;Gene=NM_001136138,NM_001287218,NM_001287219,NM_001287220,NM_001287221,NM_001349646,NM_001349647,NM_001349648,NM_001349649,NM_001349650,NM_001349651,NM_001349652,NM_001349653,NM_001349654,NM_001349657,NM_001349658,NM_001349659,NM_001349660,NM_001349661,NM_001349662,NM_001349663,NM_001349664,NM_001349665,NM_001349666,NM_001349667,NM_001349668,NM_001349669,NM_001349670,NM_001349671,NM_001349672,NM_012424;GeneDetail=NM_001136138:c.-28T>C\x3bNM_001287218:c.-78221T>C\x3bNM_001287219:c.-78221T>C\x3bNM_001287220:c.-189495T>C\x3bNM_001287221:c.-78221T>C\x3bNM_001349646:c.-28T>C\x3bNM_001349647:c.-28T>C\x3bNM_001349648:c.-78221T>C\x3bNM_001349649:c.-78221T>C\x3bNM_001349650:c.-78221T>C\x3bNM_001349651:c.-78221T>C\x3bNM_001349652:c.-78221T>C\x3bNM_001349653:c.-78221T>C\x3bNM_001349654:c.-78221T>C\x3bNM_001349657:c.-116537T>C\x3bNM_001349658:c.-116537T>C\x3bNM_001349659:c.-179132T>C\x3bNM_001349660:c.-179132T>C\x3bNM_001349661:c.-179132T>C\x3bNM_001349662:c.-179132T>C\x3bNM_001349663:c.-189495T>C\x3bNM_001349664:c.-189495T>C\x3bNM_001349665:c.-189495T>C\x3bNM_001349666:c.-189495T>C\x3bNM_001349667:c.-189495T>C\x3bNM_001349668:c.-189495T>C\x3bNM_001349669:c.-189495T>C\x3bNM_001349670:c.-189495T>C\x3bNM_001349671:c.-189495T>C\x3bNM_001349672:c.-189495T>C\x3bNM_012424:c.-28T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614059.4,ENST00000366960.7,ENST00000543354.5,ENST00000615329.4,ENST00000366959.4,ENST00000543470.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"377751:(GGC)n(Simple_repeat)";avsnp150=rs4951476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.9002;1000g2015aug_amr=0.5735;1000g2015aug_all=0.721845;esp6500siv2_all=0.7509;ExAC_ALL=0.6884;ExAC_AFR=0.8613;ExAC_AMR=0.5121;ExAC_EAS=0.6236;ExAC_FIN=0.6730;ExAC_NFE=0.7065;ExAC_OTH=0.6995;ExAC_SAS=0.6939;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,26:51:99:762,0,757 1 213234535 rs113496408 A T 66.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KC1;Func=intronic;Gene=NM_001136138,NM_001287218,NM_001287219,NM_001287220,NM_001287221,NM_001349646,NM_001349647,NM_001349648,NM_001349649,NM_001349650,NM_001349651,NM_001349652,NM_001349653,NM_001349654,NM_001349657,NM_001349658,NM_001349659,NM_001349660,NM_001349661,NM_001349662,NM_001349663,NM_001349664,NM_001349665,NM_001349666,NM_001349667,NM_001349668,NM_001349669,NM_001349670,NM_001349671,NM_001349672,NM_012424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543470.5,ENST00000615329.4,ENST00000366959.4,ENST00000366960.7,ENST00000614059.4,ENST00000543354.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1439\x3bName\x3e"377774:MLT1A(LTR)";avsnp150=rs113496408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0298;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0233626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:95:95,0,101 1 213416197 rs4411110 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRPS6KC1;Func=intronic;Gene=NM_001136138,NM_001287218,NM_001287219,NM_001287220,NM_001287221,NM_001349646,NM_001349647,NM_001349648,NM_001349649,NM_001349650,NM_001349651,NM_001349652,NM_001349653,NM_001349654,NM_001349657,NM_001349658,NM_001349659,NM_001349660,NM_001349661,NM_001349662,NM_001349663,NM_001349664,NM_001349665,NM_001349666,NM_001349667,NM_001349668,NM_001349669,NM_001349670,NM_001349671,NM_001349672,NM_012424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543470.5,ENST00000543354.5,ENST00000614059.4,ENST00000366960.7,ENST00000366959.4,ENST00000615329.4;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4411110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.9928;1000g2015aug_all=0.978235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 213586276 rs320462 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012424,NR_037850;GeneDetail=dist\x3e138159\x3bdist\x3e406708;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs320462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.4734;1000g2015aug_eur=0.7445;1000g2015aug_afr=0.6823;1000g2015aug_amr=0.7781;1000g2015aug_all=0.659944;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 213840987 rs1509865 C G 88.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012424,NR_037850;GeneDetail=dist\x3e392870\x3bdist\x3e151997;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15789\x3bName\x3e"378898:Tigger1(DNA)";avsnp150=rs1509865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.9509;1000g2015aug_eur=0.9254;1000g2015aug_afr=0.6997;1000g2015aug_amr=0.9467;1000g2015aug_all=0.88139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:116,12,0 1 214162573 rs340838 A T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePROX1;Func=intronic;Gene=NM_001270616,NM_002763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435016.2,ENST00000498508.6,ENST00000261454.8,ENST00000366958.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs340838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.2179;1000g2015aug_amr=0.5274;1000g2015aug_all=0.476038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 214188173 rs378414 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePROX1;Func=intronic;Gene=NM_001270616,NM_002763;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000435016.2,ENST00000498508.6,ENST00000366958.8,ENST00000261454.8;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs378414;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.8306;1000g2015aug_amr=0.7911;1000g2015aug_all=0.872404;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 214313105 rs1816732 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001270616,NM_020197;GeneDetail=dist\x3e98258\x3bdist\x3e141460;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e222\x3bName\x3e"379647:L2c(LINE)";avsnp150=rs1816732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.1891;1000g2015aug_amr=0.4063;1000g2015aug_all=0.292133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 214492286 rs1134647 G A 432.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.702;DP=51;ExcessHet=3.0103;FS=1.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.19;SOR=0.644;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=exonic;Gene=NM_020197;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SMYD2:NM_020197:exon5:c.G494A:p.G165E;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1134647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.623;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.9076;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.755;1000g2015aug_all=0.830671;esp6500siv2_all=0.9383;ExAC_ALL=0.8580;ExAC_AFR=0.9814;ExAC_AMR=0.7025;ExAC_EAS=0.6172;ExAC_FIN=0.8654;ExAC_NFE=0.9091;ExAC_OTH=0.8502;ExAC_SAS=0.8062;SIFT_score=0.834;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.445;MutationAssessor_pred=N;FATHMM_score=2.57;FATHMM_pred=T;phyloP100way_vertebrate=4.948;phyloP20way_mammalian=0.244;SiPhy_29way_logOdds=11.467;gerp++gt2=5.48;CADD=1.413;CADD_Phred=12.86;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,19:50:99:461,0,804 1 214503489 rs2291830 T G 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.317;DP=53;ExcessHet=3.0103;FS=3.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.508;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=intronic;Gene=NM_020197;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.5895;1000g2015aug_afr=0.5189;1000g2015aug_amr=0.4553;1000g2015aug_all=0.561901;esp6500siv2_all=0.5562;ExAC_ALL=0.5696;ExAC_AFR=0.5502;ExAC_AMR=0.3976;ExAC_EAS=0.6314;ExAC_FIN=0.5356;ExAC_NFE=0.5814;ExAC_OTH=0.5764;ExAC_SAS=0.6424;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,23:53:99:586,0,789 1 214504604 rs2270704 T C 1676.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.404;DP=137;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.36;SOR=0.649;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=intronic;Gene=NM_020197;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270704;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.622;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.8857;1000g2015aug_afr=0.9629;1000g2015aug_amr=0.7435;1000g2015aug_all=0.813099;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,61:137:99:1705,0,1999 1 214505282 rs56403982 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=intronic;Gene=NM_020197;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56403982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0133;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0359425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 214505689 rs870118 G C 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.583;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=1.186;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=intronic;Gene=NM_020197;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs870118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0634;1000g2015aug_eur=0.1173;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0461;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,19:26:99:579,0,180 1 214505716 rs6419474 T C 389.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.74;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=1.455;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSMYD2;Func=intronic;Gene=NM_020197;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366957.9;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6419474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9496;1000g2015aug_all=0.957668;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,12:16:99:418,0,119 1 214566845 rs7355212 A G 259.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.958;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.086;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q32.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7355212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9568;1000g2015aug_all=0.964856;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:288,0,310 1 214576482 rs4636427 C T 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.26;ReadPosRankSum=0.562;SOR=1.493;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4636427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.127;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.2684;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.1945;1000g2015aug_all=0.194688;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:447,0,194 1 214637882 rs7528315 A G 861.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.553;DP=41;ExcessHet=3.0103;FS=2.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=-1.043;SOR=0.24;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7528315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.8141;1000g2015aug_all=0.826078;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,26:41:99:890,0,494 1 214638172 rs10864100 C T 2862.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.908;DP=235;ExcessHet=3.0103;FS=6.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.207;SOR=1.08;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=UTR5;Gene=NM_005401;GeneDetail=NM_005401:c.-26G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.8141;1000g2015aug_all=0.826078;esp6500siv2_all=0.8344;ExAC_ALL=0.8081;ExAC_AFR=0.8969;ExAC_AMR=0.8555;ExAC_EAS=0.7764;ExAC_FIN=0.7778;ExAC_NFE=0.8006;ExAC_OTH=0.7930;ExAC_SAS=0.7785;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:125,110:235:99:2891,0,2994 1 214638319 rs10864101 T C 402.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.388;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.899;SOR=0.195;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.8141;1000g2015aug_all=0.826278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:431,0,462 1 214638347 rs10864102 A G 302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=0.228;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.8002;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.8141;1000g2015aug_all=0.826478;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,9:15:99:331,0,205 1 214638419 rs5020617 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5020617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8075;1000g2015aug_sas=0.7935;1000g2015aug_eur=0.83;1000g2015aug_afr=0.941;1000g2015aug_amr=0.8343;1000g2015aug_all=0.848243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 214656464 rs75275552 G T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.47;MQRankSum=-0.524;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs75275552;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 214656466 rs61745824 C G 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.47;QD=29.76;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs61745824;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3095;1000g2015aug_sas=0.3599;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.3689;1000g2015aug_all=0.351837;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 214656476 rs61745825 G A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.21;MQRankSum=0.366;QD=4.82;ReadPosRankSum=0.431;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs61745825;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 214656500 rs76083445 T C 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.9;MQRankSum=-0.21;QD=27.13;ReadPosRankSum=0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs76083445;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 214656526 rs80102871 T C 178.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.9;MQRankSum=-0.21;QD=29.8;ReadPosRankSum=0.674;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs80102871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.5;1000g2015aug_eur=0.499;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4957;1000g2015aug_all=0.496605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:27:207,0,27 1 214656527 rs75133125 G A 178.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.9;MQRankSum=-0.21;QD=29.8;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs75133125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4871;1000g2015aug_sas=0.5;1000g2015aug_eur=0.499;1000g2015aug_afr=0.5;1000g2015aug_amr=0.4957;1000g2015aug_all=0.496605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:27:207,0,27 1 214656575 rs74142715 C T 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.793;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.17;MQRankSum=-0.348;QD=18.98;ReadPosRankSum=0.469;SOR=0.591;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs74142715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,11:14:83:294,0,83 1 214656668 rs55783822 G C 871.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.26;QD=24.23;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366956.9,ENST00000543945.5;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs55783822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:900,60,0 1 214656669 rs59683713 C T 871.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.26;QD=29.87;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918787\x3bName\x3echr12:12451198;Repeat=.;avsnp150=rs59683713;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:900,60,0 1 214705676 rs6665957 A C 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.619;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.319;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePTPN14;Func=intronic;Gene=NM_005401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543945.5,ENST00000366956.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.767;1000g2015aug_amr=0.2536;1000g2015aug_all=0.478834;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,192 1 214787130 rs2070064 G A 794.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.449;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.654;SOR=0.821;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CENPF:NM_016343:exon2:c.G33A:p.G11G;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2070064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.499;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.3156;1000g2015aug_all=0.236222;esp6500siv2_all=0.3825;ExAC_ALL=0.3957;ExAC_AFR=0.1009;ExAC_AMR=0.2497;ExAC_EAS=0.1152;ExAC_FIN=0.4505;ExAC_NFE=0.5145;ExAC_OTH=0.4324;ExAC_SAS=0.3251;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,31:55:99:823,0,624 1 214814571 rs3795521 C T 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.219;DP=31;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-2.334;SOR=0.26;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CENPF:NM_016343:exon12:c.C2890T:p.L964L;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.499;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.317;1000g2015aug_all=0.239018;esp6500siv2_all=0.3805;ExAC_ALL=0.3971;ExAC_AFR=0.1013;ExAC_AMR=0.2497;ExAC_EAS=0.1168;ExAC_FIN=0.4499;ExAC_NFE=0.5156;ExAC_OTH=0.4265;ExAC_SAS=0.3210;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:458,0,483 1 214820099 rs3748697 A G 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.917;DP=17;ExcessHet=3.0103;FS=2.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.391;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CENPF:NM_016343:exon13:c.A7186G:p.N2396D;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.122;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.3127;1000g2015aug_all=0.235024;esp6500siv2_all=0.3766;ExAC_ALL=0.3926;ExAC_AFR=0.1019;ExAC_AMR=0.2490;ExAC_EAS=0.1172;ExAC_FIN=0.4398;ExAC_NFE=0.5087;ExAC_OTH=0.4187;ExAC_SAS=0.3225;SIFT_score=0.552;SIFT_pred=T;Polyphen2_HDIV_score=0.013;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_pred=N;MutationTaster_score=0.914;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=0.96;FATHMM_pred=T;phyloP100way_vertebrate=0.224;phyloP20way_mammalian=1.176;SiPhy_29way_logOdds=5.149;gerp++gt2=3.97;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:209,0,295 1 214826196 rs335524 G A 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.293;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-1.537;SOR=1.17;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CENPF:NM_016343:exon16:c.G8186A:p.R2729Q;Gencode=Name\x3eENST00000614578.1,ENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs335524;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.6973;1000g2015aug_eur=0.4443;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.5893;1000g2015aug_all=0.561102;esp6500siv2_all=0.3914;ExAC_ALL=0.5174;ExAC_AFR=0.3195;ExAC_AMR=0.6967;ExAC_EAS=0.8872;ExAC_FIN=0.4938;ExAC_NFE=0.4386;ExAC_OTH=0.5144;ExAC_SAS=0.6516;SIFT_score=0.688;SIFT_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.28;MutationAssessor_pred=N;FATHMM_score=4.11;FATHMM_pred=T;phyloP100way_vertebrate=-0.027;phyloP20way_mammalian=-1.158;SiPhy_29way_logOdds=14.173;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,258 1 214828812 rs435043 A G 716.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.398;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.368;SOR=0.743;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=intronic;Gene=NM_016343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs435043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.6657;1000g2015aug_all=0.736422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,29:45:99:745,0,368 1 214830617 rs438034 A G 1205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.653;DP=107;ExcessHet=3.0103;FS=1.568;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.265;SOR=0.919;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CENPF:NM_016343:exon18:c.A8827G:p.R2943G;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs438034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eResponse_to_antineoplastic_agents;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.354;1000g2015aug_amr=0.6383;1000g2015aug_all=0.618411;esp6500siv2_all=0.4920;ExAC_ALL=0.5987;ExAC_AFR=0.3949;ExAC_AMR=0.7356;ExAC_EAS=0.8838;ExAC_FIN=0.5753;ExAC_NFE=0.5448;ExAC_OTH=0.5894;ExAC_SAS=0.7086;SIFT_score=0.663;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.879;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.63;MutationAssessor_pred=N;FATHMM_score=4.17;FATHMM_pred=T;phyloP100way_vertebrate=0.952;phyloP20way_mammalian=-0.196;SiPhy_29way_logOdds=7.878;gerp++gt2=2.52;CADD=1.002;CADD_Phred=10.67;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,47:107:99:1234,0,1568 1 214830908 rs417844 A G 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-1.465;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=intronic;Gene=NM_016343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs417844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8879;1000g2015aug_sas=0.7444;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.6398;1000g2015aug_all=0.626797;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 214837110 rs7289 C G 1219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.844;DP=97;ExcessHet=3.0103;FS=5.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.057;SOR=1.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=exonic;Gene=NM_016343;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CENPF:NM_016343:exon20:c.C9318G:p.N3106K;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8889;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.5606;1000g2015aug_afr=0.3775;1000g2015aug_amr=0.6772;1000g2015aug_all=0.63099;esp6500siv2_all=0.5039;ExAC_ALL=0.6080;ExAC_AFR=0.4211;ExAC_AMR=0.7583;ExAC_EAS=0.8807;ExAC_FIN=0.5760;ExAC_NFE=0.5518;ExAC_OTH=0.6102;ExAC_SAS=0.7157;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.073;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.975;MutationAssessor_pred=N;FATHMM_score=4.04;FATHMM_pred=T;phyloP100way_vertebrate=0.576;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=4.434;gerp++gt2=3.74;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,45:97:99:1248,0,1418 1 214837210 rs11537814 T C 326.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.299;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=0.853;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCENPF;Func=UTR3;Gene=NM_016343;GeneDetail=NM_016343:c.*73T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366955.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11537814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0331;1000g2015aug_all=0.0191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,11:16:99:355,0,146 1 215009993 rs11120428 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016343,NM_001017424;GeneDetail=dist\x3e172079\x3bdist\x3e168892;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e240\x3bName\x3e"380865:LTR78B(LTR)";avsnp150=rs11120428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2272;1000g2015aug_sas=0.2781;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.1475;1000g2015aug_amr=0.4294;1000g2015aug_all=0.308307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 215139887 rs1452628 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_016343,NM_001017424;GeneDetail=dist\x3e301973\x3bdist\x3e38998;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1452628;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4296;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.438;1000g2015aug_all=0.456869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 215239896 rs1545505 T C 210.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK2;Func=intronic;Gene=NM_001017424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391895.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1545505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9899;1000g2015aug_all=0.955871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:239,18,0 1 215255977 rs28545309 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK2;Func=intronic;Gene=NM_001017424;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391895.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28545309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1052;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.171;1000g2015aug_amr=0.1009;1000g2015aug_all=0.141573;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 215342573 rs17024342 C T 1236.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.861;DP=133;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.27;SOR=0.655;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK2;Func=exonic;Gene=NM_001017424,NM_001017425,NM_014217;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=KCNK2:NM_001017424:exon4:c.C495T:p.G165G,KCNK2:NM_001017425:exon4:c.C507T:p.G169G,KCNK2:NM_014217:exon4:c.C462T:p.G154G;Gencode=Name\x3eENST00000391894.6,ENST00000391895.6,ENST00000444842.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17024342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.0583;1000g2015aug_eur=0.0467;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.0504;1000g2015aug_all=0.136981;esp6500siv2_all=0.1372;ExAC_ALL=0.0675;ExAC_AFR=0.3303;ExAC_AMR=0.0295;ExAC_EAS=0.0043;ExAC_FIN=0.0699;ExAC_NFE=0.0429;ExAC_OTH=0.0573;ExAC_SAS=0.0606;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,48:133:99:1265,0,2286 1 215368514 rs1556907 A G 1601.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.71;SOR=5.186;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK2;Func=intronic;Gene=NM_001017424,NM_001017425,NM_014217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444842.6,ENST00000391895.6,ENST00000391894.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1556907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.2534;1000g2015aug_amr=0.33;1000g2015aug_all=0.384784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1630,123,0 1 215408057 rs11120527 G T 378.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.112;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.347;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK2;Func=intronic;Gene=NM_001017424,NM_001017425,NM_014217;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444842.6,ENST00000391895.6,ENST00000391894.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.4816;1000g2015aug_eur=0.2356;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.2277;1000g2015aug_all=0.302716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,12:20:99:407,0,273 1 215741053 rs2275768 T G 291.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.917;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=1.806;SOR=0.184;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCTD3;Func=exonic;Gene=NM_001319294,NM_016121;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=KCTD3:NM_001319294:exon1:c.T25G:p.F9V,KCTD3:NM_016121:exon1:c.T25G:p.F9V;Gencode=Name\x3eENST00000259154.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.2291;1000g2015aug_all=0.291334;esp6500siv2_all=0.1547;ExAC_ALL=0.3080;ExAC_AFR=0.1071;ExAC_AMR=0.2857;ExAC_EAS=0.4;ExAC_FIN=0.3333;ExAC_NFE=0.3536;ExAC_OTH=0.3571;ExAC_SAS=0.4831;SIFT_score=0.228;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.330;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=1.25;FATHMM_pred=T;phyloP100way_vertebrate=2.464;phyloP20way_mammalian=0.809;SiPhy_29way_logOdds=6.711;gerp++gt2=.;CADD=1.078;CADD_Phred=11.10;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,12:15:80:320,0,80 1 215753355 rs11803705 T G 780.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.176;DP=44;ExcessHet=3.0103;FS=5.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=-0.913;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCTD3;Func=intronic;Gene=NM_001319294,NM_001319295,NM_016121;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000259154.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11803705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.2363;1000g2015aug_all=0.295727;esp6500siv2_all=0.2130;ExAC_ALL=0.3007;ExAC_AFR=0.0774;ExAC_AMR=0.2251;ExAC_EAS=0.4404;ExAC_FIN=0.2497;ExAC_NFE=0.2814;ExAC_OTH=0.3315;ExAC_SAS=0.5175;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,25:44:99:809,0,479 1 215781574 rs3767255 A G 614.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.947;DP=39;ExcessHet=3.0103;FS=1.461;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.909;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCTD3;Func=intronic;Gene=NM_001319294,NM_001319295,NM_016121;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000259154.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.5164;1000g2015aug_eur=0.3062;1000g2015aug_afr=0.0681;1000g2015aug_amr=0.2421;1000g2015aug_all=0.302716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,25:38:99:643,0,361 1 215799406 rs75244763 T A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.431;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75244763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1796;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.0507;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0937;1000g2015aug_all=0.0764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,147 1 215807744 rs79341918 A G 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.341;DP=25;ExcessHet=3.0103;FS=5.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.088;SOR=2.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79341918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0109;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00239617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,8:25:99:259,0,489 1 215848641 rs2797235 T C 707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.232;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.637;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USH2A:NM_206933:exon63:c.A12612G:p.T4204T;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2797235;cosmic70=.;CLNALLELEID=172380;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6429;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.8091;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.7954;1000g2015aug_all=0.689696;esp6500siv2_all=0.7544;ExAC_ALL=0.7662;ExAC_AFR=0.6324;ExAC_AMR=0.8208;ExAC_EAS=0.6468;ExAC_FIN=0.7380;ExAC_NFE=0.8137;ExAC_OTH=0.7804;ExAC_SAS=0.6925;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,24:44:99:736,0,589 1 215849044 rs4443864 C G 253.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.034;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.304;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4443864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.369;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.1931;1000g2015aug_all=0.245008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:282,0,209 1 215853357 rs10864183 G A 593.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.263;DP=56;ExcessHet=3.0103;FS=2.396;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.25;SOR=0.365;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4167;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.2767;1000g2015aug_all=0.298123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,23:56:99:622,0,869 1 215853835 rs12140451 A G 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.722;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-2.153;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12140451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2986;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0968;1000g2015aug_amr=0.1671;1000g2015aug_all=0.254992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:325,0,251 1 215932661 rs59556650 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59556650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.1455;1000g2015aug_all=0.131989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 215932957 rs17025373 G A 544.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.387;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=1.323;SOR=0.638;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17025373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0626;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.1455;1000g2015aug_all=0.132188;esp6500siv2_all=0.0458;ExAC_ALL=0.1004;ExAC_AFR=0.0124;ExAC_AMR=0.2206;ExAC_EAS=0.3706;ExAC_FIN=0.0815;ExAC_NFE=0.0648;ExAC_OTH=0.0763;ExAC_SAS=0.0844;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:573,0,581 1 215956304 rs7518466 A G 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.222;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.957;SOR=0.502;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518466;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.4957;1000g2015aug_all=0.601637;esp6500siv2_all=0.584;ExAC_ALL=0.5770;ExAC_AFR=0.7367;ExAC_AMR=0.6017;ExAC_EAS=0.6536;ExAC_FIN=0.5795;ExAC_NFE=0.5531;ExAC_OTH=0.5825;ExAC_SAS=0.5127;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,16:30:99:476,0,414 1 215960167 rs10864198 T G 972.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.502;DP=46;ExcessHet=3.0103;FS=4.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=0.183;SOR=1.289;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon52:c.A10232C:p.E3411A;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864198;cosmic70=.;CLNALLELEID=57506;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4898;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.4899;1000g2015aug_all=0.588658;esp6500siv2_all=0.5706;ExAC_ALL=0.5469;ExAC_AFR=0.6816;ExAC_AMR=0.5730;ExAC_EAS=0.6404;ExAC_FIN=0.5615;ExAC_NFE=0.5209;ExAC_OTH=0.5684;ExAC_SAS=0.4927;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.955;MutationAssessor_pred=N;FATHMM_score=3.21;FATHMM_pred=T;phyloP100way_vertebrate=2.959;phyloP20way_mammalian=0.136;SiPhy_29way_logOdds=13.071;gerp++gt2=4.88;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,33:46:99:1001,0,322 1 215972121 rs12129576 T C 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.796;DP=23;ExcessHet=3.0103;FS=4.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.554;SOR=0.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12129576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.0454;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0233626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:318,0,356 1 215972180 rs12132110 G A 668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.232;DP=51;ExcessHet=3.0103;FS=7.399;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.076;SOR=0.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12132110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0235623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,27:51:99:697,0,741 1 215990479 rs11120645 C T 483.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.384;DP=53;ExcessHet=3.0103;FS=2.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.145;SOR=1.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon48:c.G9430A:p.D3144N;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120645;cosmic70=.;CLNALLELEID=57789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.0469;1000g2015aug_amr=0.0202;1000g2015aug_all=0.023762;esp6500siv2_all=0.0376;ExAC_ALL=0.0265;ExAC_AFR=0.0483;ExAC_AMR=0.0241;ExAC_EAS=0;ExAC_FIN=0.0283;ExAC_NFE=0.0320;ExAC_OTH=0.0364;ExAC_SAS=0.0048;SIFT_score=0.016;SIFT_pred=D;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_pred=B;LRT_score=0.053;LRT_pred=N;MutationTaster_score=0.593;MutationTaster_pred=D;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=0.65;FATHMM_pred=T;phyloP100way_vertebrate=2.341;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=15.326;gerp++gt2=4.35;CADD=4.768;CADD_Phred=24.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,22:53:99:512,0,828 1 216011408 rs41277194 T C 349.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.284;DP=40;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.078;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon47:c.A9296G:p.N3099S;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41277194;cosmic70=.;CLNALLELEID=57782;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0408;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0299521;esp6500siv2_all=0.0437;ExAC_ALL=0.0283;ExAC_AFR=0.0651;ExAC_AMR=0.0251;ExAC_EAS=0;ExAC_FIN=0.0283;ExAC_NFE=0.0324;ExAC_OTH=0.0374;ExAC_SAS=0.0051;SIFT_score=0.05;SIFT_pred=D;Polyphen2_HDIV_score=0.18;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_pred=B;LRT_score=0.189;LRT_pred=N;MutationTaster_score=0.652;MutationTaster_pred=D;MutationAssessor_score=1.275;MutationAssessor_pred=L;FATHMM_score=0.65;FATHMM_pred=T;phyloP100way_vertebrate=4.104;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=9.064;gerp++gt2=2.62;CADD=2.607;CADD_Phred=20.2;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:378,0,609 1 216039967 rs2147912 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2147912;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4623;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.4155;1000g2015aug_afr=0.5015;1000g2015aug_amr=0.6009;1000g2015aug_all=0.45008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 216051157 rs12118814 C T 1187.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.594;DP=101;ExcessHet=3.0103;FS=4.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.488;SOR=1.162;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon43:c.G8624A:p.R2875Q;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12118814;cosmic70=.;CLNALLELEID=57768;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0348;1000g2015aug_afr=0.0189;1000g2015aug_amr=0.0202;1000g2015aug_all=0.014976;esp6500siv2_all=0.0302;ExAC_ALL=0.0297;ExAC_AFR=0.0199;ExAC_AMR=0.0190;ExAC_EAS=0.0001;ExAC_FIN=0.0596;ExAC_NFE=0.0402;ExAC_OTH=0.0330;ExAC_SAS=0.0041;SIFT_score=0.038;SIFT_pred=D;Polyphen2_HDIV_score=0.028;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.223;LRT_pred=N;MutationTaster_score=0.977;MutationTaster_pred=N;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.5;FATHMM_pred=T;phyloP100way_vertebrate=2.720;phyloP20way_mammalian=0.182;SiPhy_29way_logOdds=9.073;gerp++gt2=3.53;CADD=3.571;CADD_Phred=23.1;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,42:100:99:1216,0,1612 1 216107915 rs41277206 G A 575.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.861;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.014;SOR=0.752;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41277206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0516;1000g2015aug_sas=0.0297;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.0477;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0373403;esp6500siv2_all=0.0401;ExAC_ALL=0.0358;ExAC_AFR=0.0576;ExAC_AMR=0.0170;ExAC_EAS=0.0431;ExAC_FIN=0.0392;ExAC_NFE=0.0353;ExAC_OTH=0.0447;ExAC_SAS=0.0319;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,20:39:99:604,0,608 1 216172380 rs10864219 A G 427.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon34:c.T6506C:p.I2169T;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864219;cosmic70=.;CLNALLELEID=57724;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.637;1000g2015aug_eur=0.497;1000g2015aug_afr=0.4206;1000g2015aug_amr=0.6513;1000g2015aug_all=0.59345;esp6500siv2_all=0.4809;ExAC_ALL=0.5567;ExAC_AFR=0.4328;ExAC_AMR=0.6918;ExAC_EAS=0.8351;ExAC_FIN=0.5782;ExAC_NFE=0.5039;ExAC_OTH=0.5308;ExAC_SAS=0.6011;SIFT_score=0.239;SIFT_pred=T;Polyphen2_HDIV_score=0.094;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.589;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=0.66;FATHMM_pred=T;phyloP100way_vertebrate=2.365;phyloP20way_mammalian=1.088;SiPhy_29way_logOdds=11.547;gerp++gt2=5.77;CADD=2.011;CADD_Phred=16.28;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:456,45,0 1 216187482 rs4537521 C T 73.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4537521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9276;1000g2015aug_sas=0.8671;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.9909;1000g2015aug_amr=0.889;1000g2015aug_all=0.91274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:101,12,0 1 216187578 rs28658221 G A 100.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.01;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28658221;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6835;1000g2015aug_sas=0.4141;1000g2015aug_eur=0.4592;1000g2015aug_afr=0.3812;1000g2015aug_amr=0.6412;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:128,12,0 1 216187642 rs28505495 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28505495;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7222;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.6352;1000g2015aug_afr=0.5575;1000g2015aug_amr=0.7161;1000g2015aug_all=0.622604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 216219781 rs6657250 A G 1742.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_206933:exon32:c.T6317C:p.I2106T;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657250;cosmic70=.;CLNALLELEID=172908;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5;1000g2015aug_eur=0.6551;1000g2015aug_afr=0.7965;1000g2015aug_amr=0.4669;1000g2015aug_all=0.595647;esp6500siv2_all=0.7004;ExAC_ALL=0.6069;ExAC_AFR=0.7653;ExAC_AMR=0.3286;ExAC_EAS=0.4430;ExAC_FIN=0.6476;ExAC_NFE=0.6715;ExAC_OTH=0.6211;ExAC_SAS=0.5092;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.162;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.85;MutationAssessor_pred=N;FATHMM_score=0.78;FATHMM_pred=T;phyloP100way_vertebrate=1.260;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=5.369;gerp++gt2=5.42;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1771,170,0 1 216221721 rs10864227 C T 375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.33;DP=36;ExcessHet=3.0103;FS=2.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-2.647;SOR=1.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4573;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.2781;1000g2015aug_all=0.345447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,13:35:99:404,0,677 1 216258194 rs56110889 G T 254.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.113;DP=17;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.802;SOR=3.312;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC102723833,USH2A;Func=exonic;Gene=NM_206933;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USH2A:NM_206933:exon25:c.C5013A:p.G1671G;Gencode=Name\x3eENST00000446411.5,ENST00000430890.5,ENST00000307340.7,ENST00000442606.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56110889;cosmic70=.;CLNALLELEID=57689;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.163;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.0951;1000g2015aug_all=0.105831;esp6500siv2_all=0.1788;ExAC_ALL=0.1353;ExAC_AFR=0.1929;ExAC_AMR=0.0778;ExAC_EAS=0.0001;ExAC_FIN=0.1110;ExAC_NFE=0.1711;ExAC_OTH=0.1178;ExAC_SAS=0.0754;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:283,0,211 1 216348764 rs1805049 C T 682.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.878;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.323;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_007123:exon21:c.G4457A:p.R1486K,USH2A:NM_206933:exon21:c.G4457A:p.R1486K;Gencode=Name\x3eENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805049;cosmic70=.;CLNALLELEID=172529;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7106;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.5537;1000g2015aug_amr=0.7017;1000g2015aug_all=0.66234;esp6500siv2_all=0.6064;ExAC_ALL=0.6580;ExAC_AFR=0.5770;ExAC_AMR=0.7430;ExAC_EAS=0.7839;ExAC_FIN=0.7092;ExAC_NFE=0.6247;ExAC_OTH=0.6788;ExAC_SAS=0.6972;SIFT_score=0.416;SIFT_pred=T;Polyphen2_HDIV_score=0.118;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.031;Polyphen2_HVAR_pred=B;LRT_score=0.332;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.61;FATHMM_pred=T;phyloP100way_vertebrate=-1.524;phyloP20way_mammalian=0.029;SiPhy_29way_logOdds=1.701;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,32:72:99:711,0,1085 1 216370108 rs447102 C T 708.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.64;DP=49;ExcessHet=3.0103;FS=3.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.503;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420867.1,ENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs447102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.1873;1000g2015aug_all=0.164537;esp6500siv2_all=0.1771;ExAC_ALL=0.2195;ExAC_AFR=0.0779;ExAC_AMR=0.1885;ExAC_EAS=0.2321;ExAC_FIN=0.1624;ExAC_NFE=0.2471;ExAC_OTH=0.1832;ExAC_SAS=0.2401;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,22:49:99:737,0,786 1 216370130 rs386851 T G 1536.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=2.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420867.1,ENST00000307340.7,ENST00000366942.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs386851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9861;1000g2015aug_sas=0.9356;1000g2015aug_eur=0.832;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.915;1000g2015aug_all=0.938698;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1565,120,0 1 216371934 rs646094 A C 273.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.081;DP=25;ExcessHet=3.0103;FS=2.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.36;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420867.1,ENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs646094;cosmic70=.;CLNALLELEID=57670;CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.2083;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.1988;1000g2015aug_all=0.197684;esp6500siv2_all=0.2092;ExAC_ALL=0.2217;ExAC_AFR=0.1720;ExAC_AMR=0.1790;ExAC_EAS=0.2144;ExAC_FIN=0.1586;ExAC_NFE=0.2418;ExAC_OTH=0.1821;ExAC_SAS=0.2347;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,9:25:99:302,0,466 1 216374283 rs11120740 T C 67.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420867.1,ENST00000307340.7,ENST00000366942.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11120740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.6933;1000g2015aug_eur=0.6093;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.6844;1000g2015aug_all=0.591054;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:95,9,0 1 216390475 rs419767 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7,ENST00000366942.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e351\x3bName\x3e"383018:MER81(DNA)";avsnp150=rs419767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9959;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9827;1000g2015aug_all=0.98722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 216390694 rs1324330 C T 680.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.726;DP=49;ExcessHet=3.0103;FS=1.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.37;SOR=0.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e226\x3bName\x3e"383019:L3b(LINE)";avsnp150=rs1324330;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.7004;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.295;1000g2015aug_amr=0.6844;1000g2015aug_all=0.58746;esp6500siv2_all=0.5229;ExAC_ALL=0.6337;ExAC_AFR=0.3419;ExAC_AMR=0.7320;ExAC_EAS=0.7811;ExAC_FIN=0.7076;ExAC_NFE=0.6228;ExAC_OTH=0.6663;ExAC_SAS=0.6838;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,25:49:99:709,0,639 1 216495191 rs7515253 T G 994.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.653;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.164;SOR=0.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000307340.7,ENST00000366942.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7515253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.3918;1000g2015aug_amr=0.2824;1000g2015aug_all=0.263578;esp6500siv2_all=0.2823;ExAC_ALL=0.2545;ExAC_AFR=0.3862;ExAC_AMR=0.2591;ExAC_EAS=0.1361;ExAC_FIN=0.1843;ExAC_NFE=0.2522;ExAC_OTH=0.2273;ExAC_SAS=0.2682;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,37:67:99:1023,0,732 1 216495400 rs2089947 A G 820.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.362;DP=53;ExcessHet=3.0103;FS=1.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=2.181;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=intronic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2089947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.2406;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.2795;1000g2015aug_all=0.256589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,29:53:99:849,0,657 1 216496947 rs1805050 G A 3050.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.186;DP=238;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.27;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USH2A:NM_007123:exon8:c.C1419T:p.T473T,USH2A:NM_206933:exon8:c.C1419T:p.T473T;Gencode=Name\x3eENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805050;cosmic70=.;CLNALLELEID=57593;CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.129;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.2386;1000g2015aug_afr=0.3911;1000g2015aug_amr=0.2824;1000g2015aug_all=0.262979;esp6500siv2_all=0.2955;ExAC_ALL=0.2521;ExAC_AFR=0.3847;ExAC_AMR=0.2569;ExAC_EAS=0.1350;ExAC_FIN=0.1805;ExAC_NFE=0.2491;ExAC_OTH=0.2247;ExAC_SAS=0.2681;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:119,119:238:99:3079,0,3090 1 216592003 rs4253963 T C 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.249;DP=21;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.075;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=USH2A:NM_007123:exon3:c.A504G:p.T168T,USH2A:NM_206933:exon3:c.A504G:p.T168T;Gencode=Name\x3eENST00000307340.7,ENST00000366942.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4253963;cosmic70=.;CLNALLELEID=57690;CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8175;1000g2015aug_sas=0.6329;1000g2015aug_eur=0.664;1000g2015aug_afr=0.4531;1000g2015aug_amr=0.6614;1000g2015aug_all=0.632788;esp6500siv2_all=0.5963;ExAC_ALL=0.6485;ExAC_AFR=0.4936;ExAC_AMR=0.6990;ExAC_EAS=0.8390;ExAC_FIN=0.6892;ExAC_NFE=0.6462;ExAC_OTH=0.6542;ExAC_SAS=0.6039;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,7:21:99:195,0,385 1 216595306 rs10779261 C T 776.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.696;DP=61;ExcessHet=3.0103;FS=0.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.898;SOR=0.889;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eUSH2A;Func=exonic;Gene=NM_007123,NM_206933;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=USH2A:NM_007123:exon2:c.G373A:p.A125T,USH2A:NM_206933:exon2:c.G373A:p.A125T;Gencode=Name\x3eENST00000366942.3,ENST00000307340.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779261;cosmic70=.;CLNALLELEID=57669;CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.771;1000g2015aug_eur=0.7326;1000g2015aug_afr=0.764;1000g2015aug_amr=0.7089;1000g2015aug_all=0.761182;esp6500siv2_all=0.7190;ExAC_ALL=0.7293;ExAC_AFR=0.7527;ExAC_AMR=0.7321;ExAC_EAS=0.8348;ExAC_FIN=0.7712;ExAC_NFE=0.7059;ExAC_OTH=0.7368;ExAC_SAS=0.7349;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.681;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.935;MutationAssessor_pred=N;FATHMM_score=-0.1;FATHMM_pred=T;phyloP100way_vertebrate=0.358;phyloP20way_mammalian=-0.254;SiPhy_29way_logOdds=0.874;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,31:61:99:805,0,729 1 216737861 rs11117622 G T 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.921;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESRRG;Func=intronic;Gene=NM_001134285,NM_001243505,NM_001243506,NM_001243507,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243513,NM_001243514,NM_001243515,NM_001243518,NM_001243519,NM_001350122,NM_001350123,NM_001350124,NM_001350125,NM_001438,NM_206594,NM_206595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000463665.5,ENST00000366938.6,ENST00000366940.6,ENST00000487276.5,ENST00000408911.7,ENST00000360012.7,ENST00000361395.6,ENST00000359162.6,ENST00000616180.4,ENST00000493603.5,ENST00000493748.5,ENST00000361525.7,ENST00000366937.5,ENST00000391890.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11117622;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.136;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.183;1000g2015aug_all=0.133387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:294,0,232 1 216896444 rs2813709 A G 251.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESRRG;Func=intronic;Gene=NM_001134285,NM_001243505,NM_001243506,NM_001243507,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243513,NM_001243514,NM_001243515,NM_001243518,NM_001243519,NM_001350122,NM_001350123,NM_001350124,NM_001350125,NM_001438,NM_206594,NM_206595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366938.6,ENST00000463665.5,ENST00000487276.5,ENST00000366940.6,ENST00000408911.7,ENST00000360012.7,ENST00000361395.6,ENST00000359162.6,ENST00000493603.5,ENST00000391890.7,ENST00000361525.7,ENST00000493748.5,ENST00000366937.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2813709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9444;1000g2015aug_sas=0.9939;1000g2015aug_eur=1;1000g2015aug_afr=0.9418;1000g2015aug_amr=0.9928;1000g2015aug_all=0.971246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:280,21,0 1 216908503 rs2813706 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESRRG;Func=intronic;Gene=NM_001134285,NM_001243505,NM_001243506,NM_001243507,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243513,NM_001243514,NM_001350122,NM_001350123,NM_001350124,NM_001350125,NM_206594,NM_206595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366938.6,ENST00000463665.5,ENST00000487276.5,ENST00000366940.6,ENST00000360012.7,ENST00000361395.6,ENST00000359162.6,ENST00000493603.5,ENST00000361525.7,ENST00000493748.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2389\x3bName\x3e"383753:AluSx1(SINE)";avsnp150=rs2813706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.506;1000g2015aug_sas=0.2198;1000g2015aug_eur=0.3728;1000g2015aug_afr=0.1301;1000g2015aug_amr=0.4539;1000g2015aug_all=0.316893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 217131057 rs3098286 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESRRG;Func=intronic;Gene=NM_001134285,NM_001243505,NM_001243506,NM_001243507,NM_001243509,NM_001243510,NM_001243511,NM_001350122,NM_001350123,NM_001350124,NM_001350125,NM_206594,NM_206595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366940.6,ENST00000463665.5,ENST00000361525.7,ENST00000493748.5,ENST00000493603.5,ENST00000359162.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1860\x3bName\x3e"384094:L2b(LINE)";avsnp150=rs3098286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.5951;1000g2015aug_eur=0.837;1000g2015aug_afr=0.3026;1000g2015aug_amr=0.621;1000g2015aug_all=0.547524;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 217176438 . G C 286.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=28.67;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eESRRG;Func=intronic;Gene=NM_001134285,NM_001243505,NM_001243506,NM_001243507,NM_001243509,NM_001243510,NM_001243511,NM_001350122,NM_001350123,NM_001350124,NM_001350125,NM_206594,NM_206595;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359162.6,ENST00000493603.5,ENST00000493748.5,ENST00000361525.7,ENST00000463665.5,ENST00000366940.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:315,21,0 1 217346786 rs12094553 C T 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e35689\x3bdist\x3e253549;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e860\x3bName\x3e"384450:L2a(LINE)";avsnp150=rs12094553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.8112;1000g2015aug_all=0.799121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 217346796 rs12094589 C G 58.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e35699\x3bdist\x3e253539;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e860\x3bName\x3e"384450:L2a(LINE)";avsnp150=rs12094589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.8112;1000g2015aug_all=0.799121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:86,6,0 1 217346952 rs71521176 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e35855\x3bdist\x3e253383;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71521176;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8125;1000g2015aug_sas=0.7945;1000g2015aug_eur=0.8787;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.8156;1000g2015aug_all=0.810903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 217349324 rs2377476 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e38227\x3bdist\x3e251011;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e681\x3bName\x3e"384459:L1MC1(LINE)";avsnp150=rs2377476;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8651;1000g2015aug_sas=0.7955;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.7156;1000g2015aug_amr=0.8401;1000g2015aug_all=0.812101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 217492657 rs2646859 T A 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e181560\x3bdist\x3e107678;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2646859;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.497;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.4078;1000g2015aug_all=0.501997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 217492666 rs2646860 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001243510,NM_018040;GeneDetail=dist\x3e181569\x3bdist\x3e107669;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2646860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.7505;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.5663;1000g2015aug_all=0.622604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 217604124 rs166449 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH2;Func=UTR3;Gene=NM_018040;GeneDetail=NM_018040:c.*363A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366935.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs166449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0893;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.6573;1000g2015aug_amr=0.3242;1000g2015aug_all=0.389177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:53:149,0,53 1 217604777 rs7520483 G A 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.349;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=1.027;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH2;Func=intronic;Gene=NM_018040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366935.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0863;1000g2015aug_sas=0.273;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.3442;1000g2015aug_amr=0.2277;1000g2015aug_all=0.255791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,222 1 217671771 rs724803 C G 1071.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.033;DP=88;ExcessHet=3.0103;FS=0.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.021;SOR=0.54;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH2;Func=intronic;Gene=NM_018040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366935.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs724803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.2689;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.1422;1000g2015aug_amr=0.3084;1000g2015aug_all=0.226038;esp6500siv2_all=0.2692;ExAC_ALL=0.2867;ExAC_AFR=0.1655;ExAC_AMR=0.3238;ExAC_EAS=0.1493;ExAC_FIN=0.2138;ExAC_NFE=0.3225;ExAC_OTH=0.3296;ExAC_SAS=0.2917;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,42:88:99:1100,0,1237 1 217688408 rs17046538 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPATCH2;Func=intronic;Gene=NM_018040;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366935.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17046538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8512;1000g2015aug_sas=0.6329;1000g2015aug_eur=0.6203;1000g2015aug_afr=0.3381;1000g2015aug_amr=0.6744;1000g2015aug_all=0.602236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 217856622 rs12035909 A G 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.378;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=0.627;SOR=0.344;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA17;Func=exonic;Gene=NM_138796;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPATA17:NM_138796:exon5:c.A314G:p.Y105C;Gencode=Name\x3eENST00000366933.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12035909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0675;1000g2015aug_sas=0.0511;1000g2015aug_eur=0.005;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.0257588;esp6500siv2_all=0.0064;ExAC_ALL=0.0164;ExAC_AFR=0.0012;ExAC_AMR=0.0037;ExAC_EAS=0.0836;ExAC_FIN=0.0092;ExAC_NFE=0.0088;ExAC_OTH=0.0188;ExAC_SAS=0.0326;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.802;MutationTaster_pred=N;MutationAssessor_score=2.79;MutationAssessor_pred=M;FATHMM_score=1.32;FATHMM_pred=T;phyloP100way_vertebrate=2.672;phyloP20way_mammalian=0.083;SiPhy_29way_logOdds=10.390;gerp++gt2=2.73;CADD=4.874;CADD_Phred=24.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,6:22:99:184,0,534 1 217947495 rs6604560 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA17;Func=intronic;Gene=NM_138796;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366933.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e239\x3bName\x3e"385490:MER5B(DNA)";avsnp150=rs6604560;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.6936;1000g2015aug_amr=0.683;1000g2015aug_all=0.731829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 217947738 rs6604561 G A 1783.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=1.22;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA17;Func=exonic;Gene=NM_138796;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SPATA17:NM_138796:exon7:c.G582A:p.Q194Q;Gencode=Name\x3eENST00000366933.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6604561;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7292;1000g2015aug_sas=0.727;1000g2015aug_eur=0.8101;1000g2015aug_afr=0.6861;1000g2015aug_amr=0.6801;1000g2015aug_all=0.726837;esp6500siv2_all=0.7692;ExAC_ALL=0.7737;ExAC_AFR=0.6969;ExAC_AMR=0.6469;ExAC_EAS=0.7615;ExAC_FIN=0.9043;ExAC_NFE=0.8073;ExAC_OTH=0.7841;ExAC_SAS=0.7285;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1812,162,0 1 218024114 rs80214498 T G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPATA17;Func=intronic;Gene=NM_138796;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366933.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"385638:(ATATTT)n(Simple_repeat)";avsnp150=rs80214498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0903;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.0199;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0483227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 218098315 . T G 466.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=25.25;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_048550,NR_110794;GeneDetail=dist\x3e4169\x3bdist\x3e118532;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:495,33,0 1 218141358 rs12732582 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_048550,NR_110794;GeneDetail=dist\x3e47212\x3bdist\x3e75489;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15016\x3bName\x3e"385831:L1PREC2(LINE)";avsnp150=rs12732582;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.1196;1000g2015aug_all=0.0996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 218141366 rs12732732 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_048550,NR_110794;GeneDetail=dist\x3e47220\x3bdist\x3e75481;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15016\x3bName\x3e"385831:L1PREC2(LINE)";avsnp150=rs12732732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0951;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.1196;1000g2015aug_all=0.0996406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 218169541 rs6604573 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_048550,NR_110794;GeneDetail=dist\x3e75395\x3bdist\x3e47306;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e20\x3bName\x3e"385871:(TATATA)n(Simple_repeat)";avsnp150=rs6604573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.992;1000g2015aug_afr=0.8374;1000g2015aug_amr=0.9827;1000g2015aug_all=0.953075;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 218219042 rs10158914 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929631;Func=ncRNA_intronic;Gene=NR_110794;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000456026.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9894;1000g2015aug_amr=1;1000g2015aug_all=0.997204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 218303651 rs493046 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110794,NM_016052;GeneDetail=dist\x3e71169\x3bdist\x3e154978;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2229\x3bName\x3e"386108:AluSp(SINE)";avsnp150=rs493046;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8234;1000g2015aug_sas=0.545;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.9039;1000g2015aug_amr=0.5865;1000g2015aug_all=0.689696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 218303703 rs482636 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110794,NM_016052;GeneDetail=dist\x3e71221\x3bdist\x3e154926;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2229\x3bName\x3e"386108:AluSp(SINE)";avsnp150=rs482636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.585;1000g2015aug_all=0.683706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 218303755 rs635140 G A 45.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110794,NM_016052;GeneDetail=dist\x3e71273\x3bdist\x3e154874;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2229\x3bName\x3e"386108:AluSp(SINE)";avsnp150=rs635140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8254;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.4851;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.585;1000g2015aug_all=0.683706;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:74,0,33 1 218377112 rs10863380 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110794,NM_016052;GeneDetail=dist\x3e144630\x3bdist\x3e81517;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2142\x3bName\x3e"386232:THE1B(LTR)";avsnp150=rs10863380;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.9607;1000g2015aug_amr=0.889;1000g2015aug_all=0.897564;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 218725609 . G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548F3;Func=ncRNA_intronic;Gene=NR_031644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2410\x3bName\x3e"386919:AluY(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 218725610 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548F3;Func=ncRNA_intronic;Gene=NR_031644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2410\x3bName\x3e"386919:AluY(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 219055281 rs676416 C A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548F3;Func=ncRNA_intronic;Gene=NR_031644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs676416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6319;1000g2015aug_sas=0.6258;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.7349;1000g2015aug_all=0.696286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 219075321 rs35028439 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548F3;Func=ncRNA_intronic;Gene=NR_031644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e987\x3bName\x3e"387473:LTR81A(LTR)";avsnp150=rs35028439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.196;1000g2015aug_all=0.15615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 219075465 rs961520 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR548F3;Func=ncRNA_intronic;Gene=NR_031644;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e987\x3bName\x3e"387473:LTR81A(LTR)";avsnp150=rs961520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.1988;1000g2015aug_all=0.163139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 219383867 rs940571 T C 1091.77 PASS AC=2;AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=1.371;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYPLAL1;Func=exonic;Gene=NM_001300769;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LYPLAL1:NM_001300769:exon3:c.T202C:p.F68L;Gencode=Name\x3eENST00000366928.9,ENST00000366927.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs940571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8517;1000g2015aug_amr=0.9957;1000g2015aug_all=0.960264;esp6500siv2_all=0.9597;ExAC_ALL=0.9886;ExAC_AFR=0.8739;ExAC_AMR=0.9934;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9967;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,36:36:99:1120,107,0 1 219383905 rs940570 A G 1381.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYPLAL1;Func=exonic;Gene=NM_001300769,NM_001300770,NM_001300771,NM_001300772,NM_001350628,NM_001350629,NM_138794;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LYPLAL1:NM_001300769:exon3:c.A240G:p.I80M,LYPLAL1:NM_001300770:exon4:c.A345G:p.I115M,LYPLAL1:NM_001300771:exon4:c.A279G:p.I93M,LYPLAL1:NM_001300772:exon4:c.A279G:p.I93M,LYPLAL1:NM_138794:exon4:c.A393G:p.I131M,LYPLAL1:NM_001350628:exon5:c.A420G:p.I140M,LYPLAL1:NM_001350629:exon5:c.A372G:p.I124M;Gencode=Name\x3eENST00000366928.9,ENST00000366927.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs940570;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8631;1000g2015aug_amr=0.9957;1000g2015aug_all=0.963259;esp6500siv2_all=0.9645;ExAC_ALL=0.9895;ExAC_AFR=0.8864;ExAC_AMR=0.9937;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9967;ExAC_SAS=0.9999;SIFT_score=0.598;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.95;MutationAssessor_pred=N;FATHMM_score=1.9;FATHMM_pred=T;phyloP100way_vertebrate=2.211;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=11.965;gerp++gt2=4.09;CADD=1.779;CADD_Phred=14.86;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1410,138,0 1 219436122 rs61836088 T C 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-0.319;SOR=2.788;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_138794,NR_135822;GeneDetail=dist\x3e49915\x3bdist\x3e172378;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15796\x3bName\x3e"388044:L1PBa(LINE)";avsnp150=rs61836088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.138;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.2205;1000g2015aug_all=0.185503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:101,0,30 1 219706327 rs2785986 A G 478.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.408;DP=31;ExcessHet=3.0103;FS=2.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.119;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_135822;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2785986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.226;1000g2015aug_eur=0.327;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.4841;1000g2015aug_all=0.236621;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:507,0,487 1 219706428 rs10746385 T C 1090.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.045;DP=96;ExcessHet=3.0103;FS=0.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.539;SOR=0.607;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=ncRNA_intronic;Gene=NR_135822;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746385;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.3427;1000g2015aug_amr=0.4121;1000g2015aug_all=0.536542;esp6500siv2_all=0.5375;ExAC_ALL=0.5622;ExAC_AFR=0.3827;ExAC_AMR=0.3813;ExAC_EAS=0.7423;ExAC_FIN=0.5158;ExAC_NFE=0.5909;ExAC_OTH=0.5345;ExAC_SAS=0.5996;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,50:96:99:1119,0,1156 1 219783279 rs2653989 T A 2736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.374;DP=277;ExcessHet=3.0103;FS=17.229;MLEAC=1;MLEAF=0.5;MQ=49.72;MQRankSum=-12.178;QD=9.88;ReadPosRankSum=1.778;SOR=1.472;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135822,NM_018713;GeneDetail=dist\x3e52613\x3bdist\x3e304327;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.988928\x3bName\x3echr6:65301132;Repeat=.;avsnp150=rs2653989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:163,114:277:99:2765,0,4523 1 220070518 rs9787289 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_135822,NM_018713;GeneDetail=dist\x3e339852\x3bdist\x3e17088;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9787289;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.911;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.5961;1000g2015aug_amr=0.7536;1000g2015aug_all=0.783546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 220091318 rs4846606 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A10;Func=intronic;Gene=NM_018713;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366926.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2384\x3bName\x3e"389161:AluSx(SINE)";avsnp150=rs4846606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2035;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.17;1000g2015aug_all=0.129792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 220101008 rs79951865 A C 264.76 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC30A10;Func=intronic;Gene=NM_018713;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366926.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e44\x3bName\x3e"389182:(A)n(Simple_repeat)";avsnp150=rs79951865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:22:302,22,0 1 220142023 rs1061248 C T 546.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.051;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=0.271;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=UTR3;Gene=NM_004446;GeneDetail=NM_004446:c.*125G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.547;1000g2015aug_eur=0.496;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.3674;1000g2015aug_all=0.476438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:575,0,462 1 220142070 rs1061242 C T 927.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.137;DP=66;ExcessHet=3.0103;FS=7.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.032;SOR=1.75;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=UTR3;Gene=NM_004446;GeneDetail=NM_004446:c.*78G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061242;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.547;1000g2015aug_eur=0.496;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.3674;1000g2015aug_all=0.476238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,32:66:99:956,0,864 1 220145371 rs2795315 T G 245.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2795315;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.8121;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8256;1000g2015aug_all=0.890176;esp6500siv2_all=0.8692;ExAC_ALL=0.8425;ExAC_AFR=0.9685;ExAC_AMR=0.8058;ExAC_EAS=0.9133;ExAC_FIN=0.8410;ExAC_NFE=0.8222;ExAC_OTH=0.8195;ExAC_SAS=0.8364;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:274,27,0 1 220145584 rs1982986 C T 37.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-1.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1982986;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.547;1000g2015aug_eur=0.496;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.3674;1000g2015aug_all=0.476438;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:66:66,0,115 1 220145637 rs1982985 A G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.431;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1982985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2887;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.3963;1000g2015aug_all=0.291334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:31:115,0,31 1 220154306 rs11118480 A C 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1997\x3bName\x3e"389283:AluJb(SINE)";avsnp150=rs11118480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.547;1000g2015aug_eur=0.501;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.3732;1000g2015aug_all=0.480232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 220154487 rs1694600 G C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1997\x3bName\x3e"389283:AluJb(SINE)";avsnp150=rs1694600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.8026;1000g2015aug_all=0.836062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 220154602 rs1694599 T C 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.27;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1694599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.8003;1000g2015aug_amr=0.8026;1000g2015aug_all=0.836462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 220154768 rs1061160 C T 768.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.675;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.037;SOR=0.651;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=exonic;Gene=NM_004446;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPRS:NM_004446:exon24:c.G3405A:p.Q1135Q;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1061160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.4294;1000g2015aug_all=0.354034;esp6500siv2_all=0.3527;ExAC_ALL=0.3461;ExAC_AFR=0.3762;ExAC_AMR=0.4081;ExAC_EAS=0.3908;ExAC_FIN=0.3101;ExAC_NFE=0.3390;ExAC_OTH=0.3319;ExAC_SAS=0.3040;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:45,38:83:99:797,0,1042 1 220155920 rs2133194 G A 321.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.224;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.81;ReadPosRankSum=-0.215;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2133194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.496;1000g2015aug_afr=0.4002;1000g2015aug_amr=0.3732;1000g2015aug_all=0.48103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,10:12:48:350,0,48 1 220156090 rs2647462 T C 1723.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=0.884;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9216;1000g2015aug_sas=0.8476;1000g2015aug_eur=0.8111;1000g2015aug_afr=0.7995;1000g2015aug_amr=0.804;1000g2015aug_all=0.836462;esp6500siv2_all=0.8124;ExAC_ALL=0.8259;ExAC_AFR=0.7998;ExAC_AMR=0.7972;ExAC_EAS=0.9129;ExAC_FIN=0.8410;ExAC_NFE=0.8201;ExAC_OTH=0.8161;ExAC_SAS=0.8345;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1752,165,0 1 220156427 rs1391566 T C 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.549;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=-0.549;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1391566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.5501;1000g2015aug_eur=0.495;1000g2015aug_afr=0.3994;1000g2015aug_amr=0.3732;1000g2015aug_all=0.48103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:56:231,0,56 1 220160360 rs2647435 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.592;1000g2015aug_eur=0.666;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.6427;1000g2015aug_all=0.560104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 220160433 rs2647434 A G 285.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.8354;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8732;1000g2015aug_all=0.895966;esp6500siv2_all=0.8592;ExAC_ALL=0.8430;ExAC_AFR=0.9690;ExAC_AMR=0.9225;ExAC_EAS=0.9435;ExAC_FIN=0.8125;ExAC_NFE=0.8049;ExAC_OTH=0.8193;ExAC_SAS=0.8187;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:314,27,0 1 220161751 rs2795310 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e310\x3bName\x3e"389297:L2c(LINE)";avsnp150=rs2795310;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9454;1000g2015aug_sas=0.8241;1000g2015aug_eur=0.7913;1000g2015aug_afr=0.7716;1000g2015aug_amr=0.8415;1000g2015aug_all=0.830471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 220162195 rs2254494 T C 448.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.593;1000g2015aug_eur=0.666;1000g2015aug_afr=0.3971;1000g2015aug_amr=0.6427;1000g2015aug_all=0.560304;esp6500siv2_all=0.6150;ExAC_ALL=0.6502;ExAC_AFR=0.4311;ExAC_AMR=0.6802;ExAC_EAS=0.5965;ExAC_FIN=0.6594;ExAC_NFE=0.6953;ExAC_OTH=0.6372;ExAC_SAS=0.5984;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:477,39,0 1 220174732 rs1694575 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1682\x3bName\x3e"389328:AluSz(SINE)";avsnp150=rs1694575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.6744;1000g2015aug_all=0.553315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220174740 rs4379680 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1682\x3bName\x3e"389328:AluSz(SINE)";avsnp150=rs4379680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.5388;1000g2015aug_afr=0.1384;1000g2015aug_amr=0.3156;1000g2015aug_all=0.320288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220179322 rs2647420 A T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9375;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8444;1000g2015aug_all=0.828275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 220184164 rs11118484 A G 492.73 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.4;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2335\x3bName\x3e"389345:AluSc(SINE)";avsnp150=rs11118484;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9077;1000g2015aug_sas=0.8978;1000g2015aug_eur=0.8529;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.889;1000g2015aug_all=0.861222;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:40:530,40,0 1 220192495 rs2245457 C G 1097.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2245457;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8732;1000g2015aug_all=0.898962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1126,93,0 1 220197545 rs2577159 C T 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2577159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9375;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.8444;1000g2015aug_all=0.828474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 220197625 rs2230301 G T 387.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=exonic;Gene=NM_004446;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EPRS:NM_004446:exon8:c.C924A:p.D308E;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230301;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8732;1000g2015aug_all=0.898962;esp6500siv2_all=0.8591;ExAC_ALL=0.8450;ExAC_AFR=0.9683;ExAC_AMR=0.9226;ExAC_EAS=0.9329;ExAC_FIN=0.8120;ExAC_NFE=0.8041;ExAC_OTH=0.8211;ExAC_SAS=0.8458;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.695;MutationAssessor_pred=N;FATHMM_score=2.05;FATHMM_pred=T;phyloP100way_vertebrate=0.344;phyloP20way_mammalian=0.114;SiPhy_29way_logOdds=7.245;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:416,42,0 1 220203596 rs2270711 T C 208.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.157;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.1;ReadPosRankSum=-1.534;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.12;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.162;1000g2015aug_afr=0.0212;1000g2015aug_amr=0.2824;1000g2015aug_all=0.127596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:237,0,18 1 220205943 rs2789816 G A 818.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789816;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9375;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8444;1000g2015aug_all=0.828275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:847,66,0 1 220205980 rs2577138 A C 301.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2577138;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8444;1000g2015aug_all=0.828474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:330,24,0 1 220206690 rs2577137 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2577137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.7435;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.6744;1000g2015aug_all=0.552915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 220207017 rs2647456 C T 594.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.8732;1000g2015aug_all=0.899161;esp6500siv2_all=0.8591;ExAC_ALL=0.8438;ExAC_AFR=0.9682;ExAC_AMR=0.9225;ExAC_EAS=0.9331;ExAC_FIN=0.8130;ExAC_NFE=0.8036;ExAC_OTH=0.8201;ExAC_SAS=0.8414;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:623,48,0 1 220208049 rs2577136 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2577136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.8497;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8444;1000g2015aug_all=0.828474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 220208154 rs2789817 C A 567.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.28;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9385;1000g2015aug_sas=0.8466;1000g2015aug_eur=0.7893;1000g2015aug_afr=0.7504;1000g2015aug_amr=0.8444;1000g2015aug_all=0.827875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:596,48,0 1 220208492 rs2647454 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPRS;Func=intronic;Gene=NM_004446;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366923.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2647454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8609;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.9682;1000g2015aug_amr=0.8718;1000g2015aug_all=0.893171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 220239448 rs1146773 T C 1436.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBPNT1;Func=intronic;Gene=NM_001286149,NM_001286150,NM_001286151,NM_006085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354807.7,ENST00000469520.6,ENST00000322067.11,ENST00000414869.6,ENST00000544404.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.6687;1000g2015aug_eur=0.8559;1000g2015aug_afr=0.559;1000g2015aug_amr=0.7363;1000g2015aug_all=0.657748;esp6500siv2_all=.;ExAC_ALL=0.7640;ExAC_AFR=0.6264;ExAC_AMR=0.7312;ExAC_EAS=0.495;ExAC_FIN=1;ExAC_NFE=0.8682;ExAC_OTH=0.8485;ExAC_SAS=0.7311;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1465,141,0 1 220239640 rs1146774 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBPNT1;Func=intronic;Gene=NM_001286149,NM_001286150,NM_001286151,NM_006085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000322067.11,ENST00000414869.6,ENST00000544404.5,ENST00000354807.7,ENST00000469520.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1146774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.6967;1000g2015aug_amr=0.7579;1000g2015aug_all=0.724241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 220240862 rs17563262 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBPNT1;Func=intronic;Gene=NM_001286149,NM_001286150,NM_001286151,NM_006085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414869.6,ENST00000544404.5,ENST00000322067.11,ENST00000469520.6,ENST00000354807.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17563262;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.034;1000g2015aug_amr=0.2464;1000g2015aug_all=0.121605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 220243002 rs1612813 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBPNT1;Func=intronic;Gene=NM_001286149,NM_001286150,NM_001286151,NM_006085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354807.7,ENST00000469520.6,ENST00000322067.11,ENST00000414869.6,ENST00000544404.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2535\x3bName\x3e"389492:AluSq2(SINE)";avsnp150=rs1612813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 220247096 rs2053250 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBPNT1;Func=intronic;Gene=NM_001286149,NM_001286150,NM_001286151,NM_006085;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414869.6,ENST00000544404.5,ENST00000322067.11,ENST00000469520.6,ENST00000354807.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2053250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.1247;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.2464;1000g2015aug_all=0.116813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 220275378 rs2789788 G A 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIARS2;Func=intronic;Gene=NM_018060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366922.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6101;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.4654;1000g2015aug_all=0.514776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 220313715 rs141385141 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIARS2;Func=intronic;Gene=NM_018060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366922.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1874\x3bName\x3e"389676:AluSz6(SINE)";avsnp150=rs141385141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0685;1000g2015aug_eur=0.0974;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0432;1000g2015aug_all=0.0403355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 220314945 rs10442693 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIARS2;Func=intronic;Gene=NM_018060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366922.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10442693;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.3262;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.3314;1000g2015aug_all=0.308506;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 220319110 rs3738336 A G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-1.981;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIARS2;Func=intronic;Gene=NM_018060;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366922.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.1551;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.2478;1000g2015aug_all=0.123203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,140 1 220321023 rs11095 A G 738.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.453;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.178;SOR=0.785;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIARS2;Func=UTR3;Gene=NM_018060;GeneDetail=NM_018060:c.*46A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366922.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.1524;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0182;1000g2015aug_amr=0.2493;1000g2015aug_all=0.126797;esp6500siv2_all=0.1371;ExAC_ALL=0.1836;ExAC_AFR=0.0430;ExAC_AMR=0.3357;ExAC_EAS=0.1335;ExAC_FIN=0.2178;ExAC_NFE=0.1836;ExAC_OTH=0.1938;ExAC_SAS=0.1783;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,32:60:99:767,0,566 1 220331319 rs3767654 T G 613.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.031;DP=50;ExcessHet=3.0103;FS=4.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.694;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.245;1000g2015aug_all=0.122804;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,22:49:99:642,0,669 1 220332552 rs2789792 C T 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2789792;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.4223;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.7458;1000g2015aug_amr=0.5231;1000g2015aug_all=0.552716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:188,0,62 1 220335430 rs2164790 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2164790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.2014;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.3228;1000g2015aug_all=0.298123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 220379362 rs374690916 A T 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.655;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=2.176;SOR=0.799;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs374690916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0002;ExAC_ALL=0.0017;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0003;ExAC_NFE=0.0028;ExAC_OTH=0.0036;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:170,0,239 1 220379503 rs4142940 G C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4142940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4425;1000g2015aug_sas=0.3712;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.7564;1000g2015aug_amr=0.4899;1000g2015aug_all=0.492212;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 220406291 rs10863538 A G 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.652;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10863538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4395;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.789;1000g2015aug_amr=0.4856;1000g2015aug_all=0.500799;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:92:112,0,92 1 220427957 rs2814494 A G 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.01;MQRankSum=-2.515;QD=21.75;ReadPosRankSum=0.241;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRAB3GAP2;Func=intronic;Gene=NM_012414;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358951.6;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.964136\x3bName\x3echr4:173615263;Repeat=.;avsnp150=rs2814494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.2992;1000g2015aug_afr=0.7821;1000g2015aug_amr=0.464;1000g2015aug_all=0.494808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 220487657 rs10863543 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e41814\x3bdist\x3e213868;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10863543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.496;1000g2015aug_afr=0.3298;1000g2015aug_amr=0.4006;1000g2015aug_all=0.415136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 220490812 rs4846623 G A 975.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.532;DP=75;ExcessHet=3.0103;FS=4.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.737;SOR=1.385;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e44969\x3bdist\x3e210713;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.906496\x3bName\x3echr2:38481829;Repeat=.;avsnp150=rs4846623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.495;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.4049;1000g2015aug_all=0.426518;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,33:75:99:1004,0,1388 1 220491151 rs6541130 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.282;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e45308\x3bdist\x3e210374;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8026;1000g2015aug_amr=0.7421;1000g2015aug_all=0.816294;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 220519630 rs11118532 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e73787\x3bdist\x3e181895;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2302\x3bName\x3e"390041:AluSx4(SINE)";avsnp150=rs11118532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.63;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.3744;1000g2015aug_amr=0.6513;1000g2015aug_all=0.557708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 220607388 rs73092269 A T 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.221;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.1;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e161545\x3bdist\x3e94137;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73092269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0893;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,145 1 220607523 rs74139667 C T 954.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.131;DP=62;ExcessHet=3.0103;FS=3.54;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.835;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e161680\x3bdist\x3e94002;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3219\x3bName\x3e"390203:MLT1J2-int(LTR)";avsnp150=rs74139667;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0893;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,26:62:99:983,0,1858 1 220607524 rs74139668 A G 954.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.074;DP=62;ExcessHet=3.0103;FS=3.54;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.863;SOR=0.354;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e161681\x3bdist\x3e94001;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3219\x3bName\x3e"390203:MLT1J2-int(LTR)";avsnp150=rs74139668;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0893;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,26:62:99:983,0,1858 1 220607572 rs74139669 G T 707.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.007;DP=70;ExcessHet=3.0103;FS=0.898;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.297;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e161729\x3bdist\x3e93953;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3219\x3bName\x3e"390203:MLT1J2-int(LTR)";avsnp150=rs74139669;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0893;1000g2015aug_sas=0.047;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0814696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,30:70:99:736,0,1052 1 220607685 rs1361256 G A 810.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.159;DP=48;ExcessHet=3.0103;FS=4.201;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.314;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e161842\x3bdist\x3e93840;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3219\x3bName\x3e"390203:MLT1J2-int(LTR)";avsnp150=rs1361256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.9533;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.9337;1000g2015aug_all=0.810104;esp6500siv2_all=.;ExAC_ALL=0.8733;ExAC_AFR=0.6129;ExAC_AMR=0.9130;ExAC_EAS=0.8788;ExAC_FIN=.;ExAC_NFE=0.9057;ExAC_OTH=0.9322;ExAC_SAS=0.8666;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,28:48:99:839,0,555 1 220607891 rs1338767 A G 1954.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=0.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e162048\x3bdist\x3e93634;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3219\x3bName\x3e"390203:MLT1J2-int(LTR)";avsnp150=rs1338767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.7247;1000g2015aug_amr=0.9798;1000g2015aug_all=0.923922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1983,159,0 1 220658789 rs75779395 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e212946\x3bdist\x3e42736;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446169.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75779395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0873;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.0249;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0521166;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 220662428 rs12562686 A C 82.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-1.282;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_012414,NM_001286129;GeneDetail=dist\x3e216585\x3bdist\x3e39097;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12562686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1111;1000g2015aug_sas=0.1524;1000g2015aug_eur=0.0537;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.0476;1000g2015aug_all=0.135383;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:111,0,27 1 220772897 rs2589592 A G 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366918.8,ENST00000402574.5,ENST00000366917.5,ENST00000611084.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2589592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.995;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.998;1000g2015aug_afr=0.4652;1000g2015aug_amr=0.9553;1000g2015aug_all=0.849241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 220800870 rs3767323 C A 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.087;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366917.5,ENST00000611084.4,ENST00000402574.5,ENST00000366918.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3767323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5298;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.3215;1000g2015aug_amr=0.5187;1000g2015aug_all=0.516374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:183,0,176 1 220808921 rs10746403 T C 692.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.064;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.596;SOR=0.633;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000402574.5,ENST00000366917.5,ENST00000611084.4,ENST00000366918.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5377;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.5836;1000g2015aug_all=0.705272;esp6500siv2_all=0.7681;ExAC_ALL=0.6799;ExAC_AFR=0.9073;ExAC_AMR=0.5172;ExAC_EAS=0.5352;ExAC_FIN=0.6898;ExAC_NFE=0.6927;ExAC_OTH=0.6588;ExAC_SAS=0.6705;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,27:62:99:721,0,981 1 220824115 rs12123306 G C 1181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.875;DP=84;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.549;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366918.8,ENST00000402574.5,ENST00000366917.5,ENST00000611084.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12123306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0169;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.4563;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.2695;1000g2015aug_all=0.191693;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,48:83:99:1210,0,872 1 220825523 rs3737296 A G 1476.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366918.8,ENST00000366917.5,ENST00000611084.4,ENST00000402574.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737296;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.7812;1000g2015aug_eur=0.7704;1000g2015aug_afr=0.9841;1000g2015aug_amr=0.6988;1000g2015aug_all=0.795128;esp6500siv2_all=0.8318;ExAC_ALL=0.7643;ExAC_AFR=0.9551;ExAC_AMR=0.6174;ExAC_EAS=0.6587;ExAC_FIN=0.7644;ExAC_NFE=0.7643;ExAC_OTH=0.7461;ExAC_SAS=0.8038;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1505,135,0 1 220825543 rs3737297 T C 426.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.474;DP=39;ExcessHet=3.0103;FS=2.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.113;SOR=1.222;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARK1;Func=intronic;Gene=NM_001286124,NM_001286126,NM_001286128,NM_018650;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366917.5,ENST00000611084.4,ENST00000402574.5,ENST00000366918.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737297;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.053;1000g2015aug_amr=0.0476;1000g2015aug_all=0.0848642;esp6500siv2_all=0.0730;ExAC_ALL=0.0864;ExAC_AFR=0.0529;ExAC_AMR=0.0338;ExAC_EAS=0.1192;ExAC_FIN=0.0742;ExAC_NFE=0.0847;ExAC_OTH=0.0883;ExAC_SAS=0.1459;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,17:39:99:455,0,597 1 220921945 rs337188 G C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.987;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.462;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC2;Func=exonic;Gene=NM_001317338,NM_001331042,NM_017898;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MARC2:NM_001317338:exon1:c.G72C:p.G24G,MARC2:NM_001331042:exon1:c.G72C:p.G24G,MARC2:NM_017898:exon1:c.G72C:p.G24G;Gencode=Name\x3eENST00000366913.7,ENST00000359316.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23\x3bName\x3e"390765:(CGCCTGG)n(Simple_repeat)";avsnp150=rs337188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.253;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.1501;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.3285;1000g2015aug_all=0.206869;esp6500siv2_all=0.0765;ExAC_ALL=0.2272;ExAC_AFR=0.2320;ExAC_AMR=0.4314;ExAC_EAS=0.3305;ExAC_FIN=0.4583;ExAC_NFE=0.2389;ExAC_OTH=0.2778;ExAC_SAS=0.2105;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:146,0,180 1 220927771 rs41314538 C T 1164.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.674;DP=66;ExcessHet=3.0103;FS=4.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.65;ReadPosRankSum=1.344;SOR=0.316;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC2;Func=intronic;Gene=NM_001317338,NM_001331042,NM_017898;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359316.6,ENST00000366913.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41314538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2381;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1471;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.3343;1000g2015aug_all=0.183107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,39:66:99:1193,0,659 1 220935081 rs2275575 G A 622.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.319;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.918;SOR=0.713;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC2;Func=exonic;Gene=NM_001317338,NM_001331042,NM_017898;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MARC2:NM_001317338:exon3:c.G528A:p.A176A,MARC2:NM_001331042:exon3:c.G528A:p.A176A,MARC2:NM_017898:exon3:c.G528A:p.A176A;Gencode=Name\x3eENST00000366913.7,ENST00000359316.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.1441;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.3271;1000g2015aug_all=0.208067;esp6500siv2_all=0.1460;ExAC_ALL=0.1928;ExAC_AFR=0.1694;ExAC_AMR=0.4183;ExAC_EAS=0.2652;ExAC_FIN=0.1807;ExAC_NFE=0.1418;ExAC_OTH=0.1943;ExAC_SAS=0.2227;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,26:54:99:651,0,689 1 220961795 rs2642423 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2642423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.969;1000g2015aug_amr=0.9986;1000g2015aug_all=0.991613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 220962398 rs78477874 T A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78477874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.2546;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.1808;1000g2015aug_amr=0.3372;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220970028 rs2642438 A G 2292.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=exonic;Gene=NM_022746;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MARC1:NM_022746:exon3:c.A493G:p.T165A;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2642438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7679;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.7217;1000g2015aug_afr=0.9508;1000g2015aug_amr=0.7767;1000g2015aug_all=0.809505;esp6500siv2_all=0.7766;ExAC_ALL=0.7542;ExAC_AFR=0.9231;ExAC_AMR=0.8378;ExAC_EAS=0.7948;ExAC_FIN=0.7153;ExAC_NFE=0.7076;ExAC_OTH=0.7334;ExAC_SAS=0.7731;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.575;MutationAssessor_pred=N;FATHMM_score=1.97;FATHMM_pred=T;phyloP100way_vertebrate=3.907;phyloP20way_mammalian=0.138;SiPhy_29way_logOdds=10.917;gerp++gt2=3.91;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2321,201,0 1 220971048 rs2807835 G T 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.373;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.131;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2807835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.2922;1000g2015aug_afr=0.4546;1000g2015aug_amr=0.1527;1000g2015aug_all=0.271765;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,11:24:99:285,0,335 1 220974202 rs2807837 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e930\x3bName\x3e"390858:L2a(LINE)";avsnp150=rs2807837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8552;1000g2015aug_sas=0.9509;1000g2015aug_eur=0.9026;1000g2015aug_afr=0.9705;1000g2015aug_amr=0.9251;1000g2015aug_all=0.923522;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220974218 rs2642444 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e930\x3bName\x3e"390858:L2a(LINE)";avsnp150=rs2642444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.3824;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.4357;1000g2015aug_amr=0.2867;1000g2015aug_all=0.368211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220986516 rs12144830 C G 907.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMARC1;Func=intronic;Gene=NM_022746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e219\x3bName\x3e"390878:MER91C(DNA)";avsnp150=rs12144830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.4294;1000g2015aug_all=0.350839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:936,72,0 1 220991170 . C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022746,NR_110797;GeneDetail=dist\x3e3429\x3bdist\x3e11427;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1323\x3bName\x3e"390883:AluSx(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 220991171 rs7514450 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022746,NR_110797;GeneDetail=dist\x3e3430\x3bdist\x3e11426;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366910.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1323\x3bName\x3e"390883:AluSx(SINE)";avsnp150=rs7514450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.4438;1000g2015aug_eur=0.3986;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.4236;1000g2015aug_all=0.327077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 221365849 rs6541181 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021958,NR_024236;GeneDetail=dist\x3e307449\x3bdist\x3e137421;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e208\x3bName\x3e"391502:L2b(LINE)";avsnp150=rs6541181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.5877;1000g2015aug_amr=0.5144;1000g2015aug_all=0.56869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 221365900 rs6669288 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021958,NR_024236;GeneDetail=dist\x3e307500\x3bdist\x3e137370;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e706\x3bName\x3e"391503:MER5A1(DNA)";avsnp150=rs6669288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5804;1000g2015aug_sas=0.4959;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.59;1000g2015aug_amr=0.5144;1000g2015aug_all=0.569888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 221400506 rs751250 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021958,NR_024236;GeneDetail=dist\x3e342106\x3bdist\x3e102764;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2093\x3bName\x3e"391550:MLT2A2(LTR)";avsnp150=rs751250;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.6262;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.4207;1000g2015aug_all=0.407348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 221436633 rs6686637 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021958,NR_024236;GeneDetail=dist\x3e378233\x3bdist\x3e66637;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24380\x3bName\x3e"391616:L1PA5(LINE)";avsnp150=rs6686637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.589;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.5893;1000g2015aug_all=0.665136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 221441418 rs6670227 C T 48.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021958,NR_024236;GeneDetail=dist\x3e383018\x3bdist\x3e61852;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2232\x3bName\x3e"391625:MSTA(LTR)";avsnp150=rs6670227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.268;1000g2015aug_all=0.320487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:76,9,0 1 221507141 rs7555947 C T 676.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.07;SOR=1.358;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf140;Func=ncRNA_exonic;Gene=NR_024236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439004.1,ENST00000434398.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555947;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9644;1000g2015aug_amr=1;1000g2015aug_all=0.990615;esp6500siv2_all=0.9928;ExAC_ALL=0.9960;ExAC_AFR=0.9766;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:705,75,0 1 221507564 rs6679291 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf140;Func=ncRNA_intronic;Gene=NR_024236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439004.1,ENST00000434398.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.2378;1000g2015aug_all=0.203275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 221509161 rs6685717 G C 290.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-2.708;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf140;Func=ncRNA_intronic;Gene=NR_024236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000434398.1,ENST00000439004.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6685717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3869;1000g2015aug_sas=0.4847;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.5418;1000g2015aug_all=0.504593;esp6500siv2_all=0.6084;ExAC_ALL=0.5807;ExAC_AFR=0.5598;ExAC_AMR=0.5714;ExAC_EAS=0.3674;ExAC_FIN=0.5;ExAC_NFE=0.6432;ExAC_OTH=0.6364;ExAC_SAS=0.5406;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,9:19:99:319,0,361 1 221690855 rs9308395 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_024236,NM_007207;GeneDetail=dist\x3e181217\x3bdist\x3e183907;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e237\x3bName\x3e"392046:MamRTE1(LINE)";avsnp150=rs9308395;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.3804;1000g2015aug_all=0.409145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 221876126 rs2280340 A G 379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.339;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.139;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP10;Func=intronic;Gene=NM_007207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366899.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0367;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.3091;1000g2015aug_afr=0.41;1000g2015aug_amr=0.2248;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:408,0,537 1 221876222 rs2280339 C T 202.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.21;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.28;ReadPosRankSum=-0.755;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDUSP10;Func=intronic;Gene=NM_007207;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366899.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280339;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3718;1000g2015aug_afr=0.1573;1000g2015aug_amr=0.3573;1000g2015aug_all=0.310903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:83:231,0,83 1 222012950 rs4579763 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101929771;Func=ncRNA_intronic;Gene=NR_125989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000431729.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4579763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7738;1000g2015aug_sas=0.8661;1000g2015aug_eur=0.8777;1000g2015aug_afr=0.8873;1000g2015aug_amr=0.8055;1000g2015aug_all=0.847045;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 222015930 rs3010858 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e1922\x3bdist\x3e679672;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3010858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7728;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.8055;1000g2015aug_all=0.848043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 222077394 rs4846358 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e63386\x3bdist\x3e618208;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433576.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6422\x3bName\x3e"392765:MER52D(LTR)";avsnp150=rs4846358;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.6142;1000g2015aug_amr=0.8473;1000g2015aug_all=0.735623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 222077643 rs2889913 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e63635\x3bdist\x3e617959;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433576.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6422\x3bName\x3e"392765:MER52D(LTR)";avsnp150=rs2889913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.59;1000g2015aug_amr=0.8401;1000g2015aug_all=0.728235;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 222077686 rs2889914 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e63678\x3bdist\x3e617916;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433576.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e6422\x3bName\x3e"392765:MER52D(LTR)";avsnp150=rs2889914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.8473;1000g2015aug_all=0.735224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 222183415 rs7552736 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e169407\x3bdist\x3e512187;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 222218798 rs11118930 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e204790\x3bdist\x3e476804;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438158.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e285\x3bName\x3e"393023:LTR78(LTR)";avsnp150=rs11118930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.4056;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.3285;1000g2015aug_all=0.278754;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 222637518 rs9442039 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e623510\x3bdist\x3e58084;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2203\x3bName\x3e"393740:AluSc(SINE)";avsnp150=rs9442039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.9986;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 222647806 rs35583094 T C 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e633798\x3bdist\x3e47796;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.978126\x3bName\x3echr1:227965598;Repeat=.;avsnp150=rs35583094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.834;1000g2015aug_afr=0.7806;1000g2015aug_amr=0.9063;1000g2015aug_all=0.874601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 222649341 rs34431997 A C 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.35;QD=26.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e635333\x3bdist\x3e46261;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.978126\x3bName\x3echr1:227965598;Repeat=.;avsnp150=rs34431997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=1;1000g2015aug_all=0.997005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 222649491 rs71642766 C G 163.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.361;DP=18;ExcessHet=3.0103;FS=2.162;MLEAC=1;MLEAF=0.5;MQ=46.71;MQRankSum=-1.009;QD=9.1;ReadPosRankSum=-0.445;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e635483\x3bdist\x3e46111;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.978126\x3bName\x3echr1:227965598;Repeat=.;avsnp150=rs71642766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.3843;1000g2015aug_amr=0.2291;1000g2015aug_all=0.314097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,295 1 222650534 rs71642767 T C 395.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.292;DP=20;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=56.73;MQRankSum=-0.186;QD=19.79;ReadPosRankSum=1.421;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125989,NM_024746;GeneDetail=dist\x3e636526\x3bdist\x3e45068;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.981289\x3bName\x3echr1:223951888;Repeat=Score\x3e2446\x3bName\x3e"393748:MER1A(DNA)";avsnp150=rs71642767;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.3742;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.3242;1000g2015aug_all=0.421126;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,16:20:99:424,0,107 1 222697088 rs3748662 G A 1346.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.226;DP=84;ExcessHet=3.0103;FS=1.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-1.623;SOR=1.048;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.2413;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.2565;1000g2015aug_all=0.264976;esp6500siv2_all=0.2713;ExAC_ALL=0.2802;ExAC_AFR=0.2382;ExAC_AMR=0.2927;ExAC_EAS=0.3419;ExAC_FIN=0.3701;ExAC_NFE=0.2817;ExAC_OTH=0.2677;ExAC_SAS=0.2248;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,48:84:99:1375,0,865 1 222700416 rs1487523 C T 971.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.212;DP=78;ExcessHet=3.0103;FS=2.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.855;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1487523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.2666;1000g2015aug_all=0.319089;esp6500siv2_all=0.3289;ExAC_ALL=0.3133;ExAC_AFR=0.4266;ExAC_AMR=0.3183;ExAC_EAS=0.3646;ExAC_FIN=0.3818;ExAC_NFE=0.2997;ExAC_OTH=0.2941;ExAC_SAS=0.2370;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,38:78:99:1000,0,1050 1 222705111 rs4846372 G A 75.1 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.77;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e304\x3bName\x3e"393880:MIR(SINE)";avsnp150=rs4846372;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9894;1000g2015aug_amr=1;1000g2015aug_all=0.997204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:11:103,11,0 1 222705270 rs4846373 T C 362.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.206;DP=35;ExcessHet=3.0103;FS=3.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.3;SOR=0.243;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.5951;1000g2015aug_all=0.550519;esp6500siv2_all=0.4842;ExAC_ALL=0.4443;ExAC_AFR=0.6989;ExAC_AMR=0.6440;ExAC_EAS=0.6847;ExAC_FIN=0.4447;ExAC_NFE=0.3683;ExAC_OTH=0.3946;ExAC_SAS=0.3217;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:391,0,560 1 222705546 rs17163175 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17163175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.5908;1000g2015aug_all=0.517173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 222711586 rs67978793 G A 204.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.2;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=-0.549;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e63\x3bName\x3e"393895:(GT)n(Simple_repeat)";avsnp150=rs67978793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,7:9:99:233,0,267 1 222712354 rs4846764 C T 250.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.475;DP=20;ExcessHet=3.0103;FS=4.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.494;SOR=2.187;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5079;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.5058;1000g2015aug_all=0.375399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:279,0,297 1 222713208 rs35746652 G A 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.525;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35746652;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2594;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.5058;1000g2015aug_all=0.375399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 222713503 rs3748664 C G 1133.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.346;DP=114;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.386;SOR=0.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=exonic;Gene=NM_024746;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HHIPL2:NM_024746:exon4:c.G1299C:p.T433T;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748664;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.5058;1000g2015aug_all=0.375599;esp6500siv2_all=0.3038;ExAC_ALL=0.3413;ExAC_AFR=0.3263;ExAC_AMR=0.6002;ExAC_EAS=0.5406;ExAC_FIN=0.3847;ExAC_NFE=0.2847;ExAC_OTH=0.3271;ExAC_SAS=0.2777;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,47:114:99:1162,0,1845 1 222713631 rs3748666 G C 1327.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.754;DP=126;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.508;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=exonic;Gene=NM_024746;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HHIPL2:NM_024746:exon4:c.C1171G:p.H391D;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2604;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.5058;1000g2015aug_all=0.375599;esp6500siv2_all=0.3039;ExAC_ALL=0.3418;ExAC_AFR=0.3266;ExAC_AMR=0.5999;ExAC_EAS=0.5406;ExAC_FIN=0.3843;ExAC_NFE=0.2850;ExAC_OTH=0.3282;ExAC_SAS=0.2794;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.305;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.11;MutationAssessor_pred=N;FATHMM_score=2.8;FATHMM_pred=T;phyloP100way_vertebrate=0.390;phyloP20way_mammalian=0.038;SiPhy_29way_logOdds=3.668;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:77,48:125:99:1356,0,2193 1 222713750 rs3828079 G A 713.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.572;DP=65;ExcessHet=3.0103;FS=10.597;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=2.436;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828079;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.3549;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.5965;1000g2015aug_all=0.54992;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,29:65:99:742,0,1159 1 222715247 rs11487812 A G 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.501;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=1.693;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11487812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.3466;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.7451;1000g2015aug_amr=0.5965;1000g2015aug_all=0.550519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,102 1 222717698 rs17163185 T C 105.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.908;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=intronic;Gene=NM_024746;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17163185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5069;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.2584;1000g2015aug_afr=0.3457;1000g2015aug_amr=0.5058;1000g2015aug_all=0.374601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:134,0,259 1 222721288 rs4846382 C T 3602.77 PASS AC=2;AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHHIPL2;Func=exonic;Gene=NM_024746;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HHIPL2:NM_024746:exon1:c.G99A:p.L33L;Gencode=Name\x3eENST00000343410.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6379;1000g2015aug_sas=0.7669;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.7205;1000g2015aug_all=0.581869;esp6500siv2_all=0.5420;ExAC_ALL=0.6369;ExAC_AFR=0.3578;ExAC_AMR=0.8062;ExAC_EAS=0.6436;ExAC_FIN=0.6432;ExAC_NFE=0.6170;ExAC_OTH=0.6527;ExAC_SAS=0.7537;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,106:106:99:3631,318,0 1 222734803 rs1134898 G C 2064.77 PASS AC=2;AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.092;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=exonic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAF1A:NM_139352:exon9:c.C801G:p.G267G,TAF1A:NM_001201536:exon10:c.C1143G:p.G381G,TAF1A:NM_005681:exon10:c.C1143G:p.G381G;Gencode=Name\x3eENST00000366890.5,ENST00000352967.8,ENST00000350027.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1134898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.5119;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.353;1000g2015aug_all=0.3125;esp6500siv2_all=0.3558;ExAC_ALL=0.4328;ExAC_AFR=0.0875;ExAC_AMR=0.3392;ExAC_EAS=0.3596;ExAC_FIN=0.5392;ExAC_NFE=0.4920;ExAC_OTH=0.4681;ExAC_SAS=0.4693;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,63:63:99:2093,189,0 1 222735113 rs34478208 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350027.8,ENST00000352967.8,ENST00000366890.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e866\x3bName\x3e"393947:MIR(SINE)";avsnp150=rs34478208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.0234;1000g2015aug_amr=0.3559;1000g2015aug_all=0.313299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 222737265 rs35877231 G T 925.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352967.8,ENST00000350027.8,ENST00000366890.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1026\x3bName\x3e"393950:MER58A(DNA)";avsnp150=rs35877231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9871;1000g2015aug_amr=1;1000g2015aug_all=0.996605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:954,93,0 1 222737568 rs3008640 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000350027.8,ENST00000352967.8,ENST00000366890.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008640;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 222742434 rs3008642 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366890.5,ENST00000350027.8,ENST00000352967.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3164\x3bName\x3e"393958:L1ME1(LINE)";avsnp150=rs3008642;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.8996;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.6167;1000g2015aug_all=0.712859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 222742676 rs4846766 T C 818.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366890.5,ENST00000352967.8,ENST00000350027.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7391;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.6382;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.7349;1000g2015aug_all=0.595847;esp6500siv2_all=.;ExAC_ALL=0.6144;ExAC_AFR=0.3779;ExAC_AMR=0.7381;ExAC_EAS=0.7601;ExAC_FIN=0.6243;ExAC_NFE=0.5996;ExAC_OTH=0.6734;ExAC_SAS=0.6558;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:847,78,0 1 222751034 rs2936033 T C 814.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352967.8,ENST00000350027.8,ENST00000366890.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2936033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.5624;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.5101;1000g2015aug_all=0.545927;esp6500siv2_all=0.6104;ExAC_ALL=0.6452;ExAC_AFR=0.4125;ExAC_AMR=0.4522;ExAC_EAS=0.5730;ExAC_FIN=0.7767;ExAC_NFE=0.7151;ExAC_OTH=0.6804;ExAC_SAS=0.6206;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:843,81,0 1 222761649 rs4525045 C A 489.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF1A;Func=intronic;Gene=NM_001201536,NM_005681,NM_139352;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366890.5,ENST00000352967.8,ENST00000350027.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4525045;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.7247;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.8156;1000g2015aug_all=0.689097;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:518,39,0 1 222798106 rs3008617 G A 818.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001324062,NM_001324063,NM_001324064,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000344922.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9939;1000g2015aug_amr=1;1000g2015aug_all=0.998403;esp6500siv2_all=0.9961;ExAC_ALL=0.9992;ExAC_AFR=0.9910;ExAC_AMR=0.9998;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:847,84,0 1 222802006 rs2936053 A G 2265.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=0.822;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=exonic;Gene=NM_001324062,NM_001324063,NM_001324064,NM_198551;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E;Gencode=Name\x3eENST00000344507.1,ENST00000344922.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2936053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9834;1000g2015aug_amr=1;1000g2015aug_all=0.995607;esp6500siv2_all=0.9927;ExAC_ALL=0.9983;ExAC_AFR=0.9800;ExAC_AMR=0.9996;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.33;MutationAssessor_pred=N;FATHMM_score=1.03;FATHMM_pred=T;phyloP100way_vertebrate=1.277;phyloP20way_mammalian=0.104;SiPhy_29way_logOdds=6.831;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2294,192,0 1 222802803 rs3748626 T G 2007.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.32;SOR=0.877;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=exonic;Gene=NM_001324062,NM_001324063,NM_001324064,NM_198551;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MIA3:NM_001324062:exon4:c.T2241G:p.P747P,MIA3:NM_001324063:exon4:c.T2241G:p.P747P,MIA3:NM_198551:exon4:c.T2241G:p.P747P,MIA3:NM_001324064:exon5:c.T1749G:p.P583P;Gencode=Name\x3eENST00000344922.9,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.7296;1000g2015aug_afr=0.2504;1000g2015aug_amr=0.5072;1000g2015aug_all=0.507388;esp6500siv2_all=0.5852;ExAC_ALL=0.6337;ExAC_AFR=0.2961;ExAC_AMR=0.4635;ExAC_EAS=0.5816;ExAC_FIN=0.7461;ExAC_NFE=0.7142;ExAC_OTH=0.6804;ExAC_SAS=0.6059;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2036,171,0 1 222802926 rs3008620 C T 1877.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=0.96;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=exonic;Gene=NM_001324062,NM_001324063,NM_001324064,NM_198551;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S;Gencode=Name\x3eENST00000344922.9,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3008620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.8456;1000g2015aug_eur=0.8976;1000g2015aug_afr=0.5711;1000g2015aug_amr=0.9035;1000g2015aug_all=0.800519;esp6500siv2_all=0.7999;ExAC_ALL=0.8685;ExAC_AFR=0.5962;ExAC_AMR=0.9432;ExAC_EAS=0.8872;ExAC_FIN=0.9253;ExAC_NFE=0.8912;ExAC_OTH=0.9118;ExAC_SAS=0.8503;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1906,171,0 1 222821211 rs61824282 C T 391.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344922.9,ENST00000340535.11,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61824282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.5378;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.3761;1000g2015aug_all=0.35643;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:420,33,0 1 222823743 rs67180937 T G 146.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340535.11,ENST00000344922.9,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e15\x3bName\x3e"394101:(T)n(Simple_repeat)";avsnp150=rs67180937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.5144;1000g2015aug_all=0.493011;esp6500siv2_all=0.5922;ExAC_ALL=0.6309;ExAC_AFR=0.2654;ExAC_AMR=0.4797;ExAC_EAS=0.5786;ExAC_FIN=0.7438;ExAC_NFE=0.7190;ExAC_OTH=0.6813;ExAC_SAS=0.5901;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:175,21,0 1 222825403 rs3002150 G A 251.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000344922.9,ENST00000340535.11;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3002150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9813;1000g2015aug_all=0.932508;esp6500siv2_all=0.9578;ExAC_ALL=0.9529;ExAC_AFR=0.9419;ExAC_AMR=0.9847;ExAC_EAS=0.8792;ExAC_FIN=0.9714;ExAC_NFE=0.9715;ExAC_OTH=0.9542;ExAC_SAS=0.8929;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:280,27,0 1 222825717 rs10495198 T C 949.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000340535.11,ENST00000344922.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.5144;1000g2015aug_all=0.503794;esp6500siv2_all=0.5799;ExAC_ALL=0.6405;ExAC_AFR=0.2518;ExAC_AMR=0.4720;ExAC_EAS=0.5975;ExAC_FIN=0.7498;ExAC_NFE=0.7247;ExAC_OTH=0.6876;ExAC_SAS=0.6215;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:978,93,0 1 222825761 rs2936019 G A 645.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344922.9,ENST00000340535.11,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2936019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.8753;1000g2015aug_eur=0.9771;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9813;1000g2015aug_all=0.932508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:674,66,0 1 222826481 rs2291832 G A 636.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000344922.9,ENST00000340535.11;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291832;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.5086;1000g2015aug_all=0.484824;esp6500siv2_all=0.5742;ExAC_ALL=0.6335;ExAC_AFR=0.2308;ExAC_AMR=0.4687;ExAC_EAS=0.5790;ExAC_FIN=0.7498;ExAC_NFE=0.7234;ExAC_OTH=0.6871;ExAC_SAS=0.6042;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:665,60,0 1 222826847 rs2291833 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000340535.11,ENST00000344922.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8819;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.8946;1000g2015aug_afr=0.503;1000g2015aug_amr=0.9006;1000g2015aug_all=0.779752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 222832295 rs2291834 T C 853.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340535.11,ENST00000344922.9,ENST00000344507.1,ENST00000608771.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291834;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5813;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7386;1000g2015aug_afr=0.1868;1000g2015aug_amr=0.5144;1000g2015aug_all=0.493011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:80:882,80,0 1 222836996 rs17465940 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344507.1,ENST00000344922.9,ENST00000340535.11;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17465940;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6042;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.1846;1000g2015aug_amr=0.5144;1000g2015aug_all=0.502596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 222837594 rs2270707 G A 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIA3;Func=intronic;Gene=NM_001300867,NM_001324062,NM_001324063,NM_001324064,NM_001324065,NM_198551;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340535.11,ENST00000344922.9,ENST00000344507.1;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6091;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.8201;1000g2015aug_afr=0.6233;1000g2015aug_amr=0.5937;1000g2015aug_all=0.652955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 222886119 rs3811465 A G 6562.77 PASS AC=2;AF=1;AN=2;DP=212;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=0.967;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBROX;Func=UTR5;Gene=NM_001288579,NM_144695;GeneDetail=NM_001288579:c.-2923A>G\x3bNM_144695:c.-2923A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000340934.9,ENST00000612948.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.8109;1000g2015aug_amr=0.6268;1000g2015aug_all=0.757188;esp6500siv2_all=.;ExAC_ALL=0.7819;ExAC_AFR=0.8136;ExAC_AMR=0.7872;ExAC_EAS=0.7714;ExAC_FIN=1;ExAC_NFE=0.8209;ExAC_OTH=0.8390;ExAC_SAS=0.7655;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,212:212:99:6591,636,0 1 222919748 rs2378606 G A 50.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM177B;Func=intronic;Gene=NM_001324080,NM_207468;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360827.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2378606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.7566;1000g2015aug_eur=0.826;1000g2015aug_afr=0.7307;1000g2015aug_amr=0.8473;1000g2015aug_all=0.785144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:78,6,0 1 222919895 rs2378607 T G 1068.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=2.165;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM177B;Func=exonic;Gene=NM_001324080,NM_207468;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM177B:NM_001324080:exon2:c.T8G:p.I3S,FAM177B:NM_207468:exon3:c.T8G:p.I3S;Gencode=Name\x3eENST00000360827.6,ENST00000445590.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2378607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.6585;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.7378;1000g2015aug_all=0.589257;esp6500siv2_all=0.5479;ExAC_ALL=0.6738;ExAC_AFR=0.2887;ExAC_AMR=0.7992;ExAC_EAS=0.7725;ExAC_FIN=0.7365;ExAC_NFE=0.6882;ExAC_OTH=0.7162;ExAC_SAS=0.6903;SIFT_score=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.036;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.89;FATHMM_pred=T;phyloP100way_vertebrate=1.356;phyloP20way_mammalian=0.075;SiPhy_29way_logOdds=3.742;gerp++gt2=2.3;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1097,96,0 1 222923001 rs2068814 A G 1390.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM177B;Func=intronic;Gene=NM_001324080,NM_207468;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360827.6,ENST00000445590.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2068814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7708;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.7378;1000g2015aug_all=0.588259;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1419,120,0 1 222923351 rs6683071 A G 1463.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.562;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM177B;Func=exonic;Gene=NM_001324080,NM_207468;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FAM177B:NM_001324080:exon5:c.A428G:p.Q143R,FAM177B:NM_207468:exon6:c.A428G:p.Q143R;Gencode=Name\x3eENST00000360827.6,ENST00000445590.3;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6683071;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eCognitive_performance;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.7607;1000g2015aug_eur=0.826;1000g2015aug_afr=0.7481;1000g2015aug_amr=0.8545;1000g2015aug_all=0.791534;esp6500siv2_all=0.7963;ExAC_ALL=0.8032;ExAC_AFR=0.7654;ExAC_AMR=0.8574;ExAC_EAS=0.7926;ExAC_FIN=0.8039;ExAC_NFE=0.8078;ExAC_OTH=0.7895;ExAC_SAS=0.7752;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.66;MutationAssessor_pred=N;FATHMM_score=1.53;FATHMM_pred=T;phyloP100way_vertebrate=-2.368;phyloP20way_mammalian=-1.982;SiPhy_29way_logOdds=2.280;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1492,144,0 1 222965408 rs36007997 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001324080,NM_032890;GeneDetail=dist\x3e41261\x3bdist\x3e23015;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e827\x3bName\x3e"394367:MIR(SINE)";avsnp150=rs36007997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.4294;1000g2015aug_all=0.402556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223152694 rs946505 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=intronic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495684.2,ENST00000284476.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1826\x3bName\x3e"394725:AluJr(SINE)";avsnp150=rs946505;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.9928;1000g2015aug_all=0.974042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223152868 rs1815607 G A 1082.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.93;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=intronic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284476.7,ENST00000495684.2;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e576\x3bName\x3e"394726:L1MB8(LINE)";avsnp150=rs1815607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.9928;1000g2015aug_all=0.974042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1111,93,0 1 223156382 rs2926159 C T 407.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=intronic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495684.2,ENST00000284476.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2926159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=0.9998;ExAC_ALL=0.9999;ExAC_AFR=0.9989;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:436,42,0 1 223168213 rs2609359 T C 493.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.664;DP=32;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.019;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=intronic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000495684.2,ENST00000284476.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2609359;cosmic70=.;CLNALLELEID=249735;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3115;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.2903;1000g2015aug_afr=0.441;1000g2015aug_amr=0.3646;1000g2015aug_all=0.379593;esp6500siv2_all=0.3309;ExAC_ALL=0.3473;ExAC_AFR=0.4347;ExAC_AMR=0.3834;ExAC_EAS=0.3025;ExAC_FIN=0.3659;ExAC_NFE=0.3038;ExAC_OTH=0.3289;ExAC_SAS=0.4597;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,18:32:99:522,0,421 1 223177574 rs2609355 A G 1574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.116;DP=116;ExcessHet=3.0103;FS=0.693;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.43;SOR=0.577;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=exonic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DISP1:NM_001350630:exon9:c.A2106G:p.K702K,DISP1:NM_032890:exon10:c.A2835G:p.K945K;Gencode=Name\x3eENST00000284476.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2609355;cosmic70=.;CLNALLELEID=249736;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.3084;1000g2015aug_all=0.241414;esp6500siv2_all=0.2618;ExAC_ALL=0.2884;ExAC_AFR=0.1815;ExAC_AMR=0.3040;ExAC_EAS=0.2188;ExAC_FIN=0.3148;ExAC_NFE=0.3036;ExAC_OTH=0.2960;ExAC_SAS=0.3089;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,55:116:99:1603,0,1813 1 223178561 rs9441941 A C 2337.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.679;DP=157;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.543;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISP1;Func=exonic;Gene=NM_001350630,NM_032890;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DISP1:NM_001350630:exon9:c.A3093C:p.P1031P,DISP1:NM_032890:exon10:c.A3822C:p.P1274P;Gencode=Name\x3eENST00000284476.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9441941;cosmic70=.;CLNALLELEID=249737;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.6163;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.5346;1000g2015aug_all=0.498003;esp6500siv2_all=0.5349;ExAC_ALL=0.5453;ExAC_AFR=0.4482;ExAC_AMR=0.5308;ExAC_EAS=0.5169;ExAC_FIN=0.5942;ExAC_NFE=0.5783;ExAC_OTH=0.5628;ExAC_SAS=0.4775;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,86:156:99:2366,0,1914 1 223190638 rs61838469 T C 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.282;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e11301\x3bdist\x3e92110;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61838469;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.5616;1000g2015aug_afr=0.5461;1000g2015aug_amr=0.572;1000g2015aug_all=0.543331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 223226953 rs12756914 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e47616\x3bdist\x3e55795;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12756914;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8078;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.8473;1000g2015aug_all=0.882788;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223262433 rs6665238 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e83096\x3bdist\x3e20315;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1438;1000g2015aug_sas=0.2791;1000g2015aug_eur=0.335;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.3127;1000g2015aug_all=0.226637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223280899 rs28594689 C T 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e101562\x3bdist\x3e1849;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28594689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.4591;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.3646;1000g2015aug_all=0.290335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 223280948 rs10443637 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e101611\x3bdist\x3e1800;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10443637;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.0961;1000g2015aug_amr=0.366;1000g2015aug_all=0.292532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223280990 rs28575203 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032890,NM_003268;GeneDetail=dist\x3e101653\x3bdist\x3e1758;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28575203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1617;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.3588;1000g2015aug_afr=0.0401;1000g2015aug_amr=0.3285;1000g2015aug_all=0.230032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223282816 rs45508499 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTLR5;Func=UTR3;Gene=NM_003268;GeneDetail=NM_003268:c.*981C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540964.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs45508499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1726;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.2983;1000g2015aug_all=0.237819;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 223284528 rs5744174 A G 2231.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTLR5;Func=exonic;Gene=NM_003268;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TLR5:NM_003268:exon6:c.T1846C:p.F616L;Gencode=Name\x3eENST00000366881.5,ENST00000540964.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs5744174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.3487;1000g2015aug_all=0.290335;esp6500siv2_all=0.3346;ExAC_ALL=0.3901;ExAC_AFR=0.1542;ExAC_AMR=0.3067;ExAC_EAS=0.2163;ExAC_FIN=0.4994;ExAC_NFE=0.4409;ExAC_OTH=0.4181;ExAC_SAS=0.4369;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.365;MutationAssessor_pred=N;FATHMM_score=2.29;FATHMM_pred=T;phyloP100way_vertebrate=-0.844;phyloP20way_mammalian=-1.464;SiPhy_29way_logOdds=12.701;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2260,204,0 1 223286551 rs1773727 A C 1076.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=6.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTLR5;Func=intronic;Gene=NM_003268;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366881.5,ENST00000540964.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2065\x3bName\x3e"394983:AluJb(SINE)";avsnp150=rs1773727;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.3487;1000g2015aug_all=0.289337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1105,75,0 1 223286561 rs1773729 T G 868.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTLR5;Func=intronic;Gene=NM_003268;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540964.5,ENST00000366881.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2065\x3bName\x3e"394983:AluJb(SINE)";avsnp150=rs1773729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.4611;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.3487;1000g2015aug_all=0.289337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:60:897,60,0 1 223286643 rs1640843 G A 231.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTLR5;Func=intronic;Gene=NM_003268;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000540964.5,ENST00000366881.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2065\x3bName\x3e"394983:AluJb(SINE)";avsnp150=rs1640843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.3055;1000g2015aug_all=0.195887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:260,21,0 1 223371274 rs4661283 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003268,NM_017982;GeneDetail=dist\x3e54650\x3bdist\x3e22887;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"395192:L1M3(LINE)";avsnp150=rs4661283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9028;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.9891;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.9769;1000g2015aug_all=0.903554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 223432758 . A G 40.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUSD4;Func=intronic;Gene=NM_001037175,NM_017982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344029.6,ENST00000484758.6,ENST00000366878.8,ENST00000494793.6,ENST00000343846.7;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:68,6,0 1 223432761 rs61837626 T G 40.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUSD4;Func=intronic;Gene=NM_001037175,NM_017982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366878.8,ENST00000344029.6,ENST00000484758.6,ENST00000343846.7,ENST00000494793.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61837626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.3213;1000g2015aug_all=0.236422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:68,6,0 1 223438384 rs141129232 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUSD4;Func=intronic;Gene=NM_001037175,NM_017982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494793.6,ENST00000343846.7,ENST00000366878.8,ENST00000344029.6,ENST00000484758.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs141129232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.006;1000g2015aug_afr=.;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 223441672 rs3820596 A G 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.433;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.8;ReadPosRankSum=-1.64;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUSD4;Func=intronic;Gene=NM_001037175,NM_017982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494793.6,ENST00000343846.7,ENST00000484758.6,ENST00000344029.6,ENST00000366878.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.381;1000g2015aug_sas=0.3272;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.3127;1000g2015aug_all=0.382588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,12:16:99:441,0,119 1 223532570 rs1547788 T C 868.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.392;DP=52;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-0.833;SOR=0.915;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSUSD4;Func=intronic;Gene=NM_001037175,NM_017982;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000494793.6,ENST00000343846.7,ENST00000484758.6,ENST00000344029.6,ENST00000366878.8;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1547788;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3284;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.2824;1000g2015aug_all=0.317692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,36:52:99:897,0,376 1 223567803 rs10907376 G A 963.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.183;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.616;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCCDC185;Func=exonic;Gene=NM_152610;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CCDC185:NM_152610:exon1:c.G986A:p.G329D;Gencode=Name\x3eENST00000366875.4;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10907376;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.2734;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.1916;1000g2015aug_all=0.175919;esp6500siv2_all=0.2383;ExAC_ALL=0.2947;ExAC_AFR=0.2735;ExAC_AMR=0.2742;ExAC_EAS=0.2254;ExAC_FIN=0.4339;ExAC_NFE=0.3733;ExAC_OTH=0.2759;ExAC_SAS=0.1483;SIFT_score=0.702;SIFT_pred=T;Polyphen2_HDIV_score=0.244;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.056;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.15;MutationAssessor_pred=L;FATHMM_score=1.92;FATHMM_pred=T;phyloP100way_vertebrate=0.649;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=1.510;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,35:71:99:992,0,1047 1 223598148 rs825141 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152610,NM_001143962;GeneDetail=dist\x3e29336\x3bdist\x3e116803;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e289\x3bName\x3e"395530:L2(LINE)";avsnp150=rs825141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8373;1000g2015aug_sas=0.9213;1000g2015aug_eur=0.9592;1000g2015aug_afr=0.6747;1000g2015aug_amr=0.9179;1000g2015aug_all=0.846446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223632876 rs4233516 T G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152610,NM_001143962;GeneDetail=dist\x3e64064\x3bdist\x3e82075;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2292\x3bName\x3e"395590:L1ME3(LINE)";avsnp150=rs4233516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.6301;1000g2015aug_amr=0.879;1000g2015aug_all=0.810104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 223633451 rs6690384 A G 302.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.23;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152610,NM_001143962;GeneDetail=dist\x3e64639\x3bdist\x3e81500;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33\x3bName\x3e"395592:A-rich(Low_complexity)";avsnp150=rs6690384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9887;1000g2015aug_amr=1;1000g2015aug_all=0.997005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:331,36,0 1 223643306 rs4661265 C A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152610,NM_001143962;GeneDetail=dist\x3e74494\x3bdist\x3e71645;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4661265;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.5308;1000g2015aug_afr=0.326;1000g2015aug_amr=0.562;1000g2015aug_all=0.488019;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:59,0,34 1 223666704 rs7531954 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152610,NM_001143962;GeneDetail=dist\x3e97892\x3bdist\x3e48247;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2582\x3bName\x3e"395656:AluY(SINE)";avsnp150=rs7531954;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9881;1000g2015aug_sas=0.9468;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.9366;1000g2015aug_all=0.861422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223718651 rs61823553 G A 667.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.151;DP=53;ExcessHet=3.0103;FS=1.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.596;SOR=0.507;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=exonic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN8:NM_001143962:exon17:c.C1775T:p.T592M;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61823553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.2042;1000g2015aug_amr=0.5692;1000g2015aug_all=0.441094;esp6500siv2_all=0.4560;ExAC_ALL=0.5019;ExAC_AFR=0.2416;ExAC_AMR=0.5634;ExAC_EAS=0.5402;ExAC_FIN=0.5519;ExAC_NFE=0.5637;ExAC_OTH=0.5785;ExAC_SAS=0.4853;SIFT_score=0.011;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.828;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=3.05;MutationAssessor_pred=M;FATHMM_score=-1.19;FATHMM_pred=T;phyloP100way_vertebrate=1.265;phyloP20way_mammalian=1.036;SiPhy_29way_logOdds=9.010;gerp++gt2=3.45;CADD=3.997;CADD_Phred=23.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,26:53:99:696,0,730 1 223718764 rs35808016 C T 386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.542;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-1.071;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35808016;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.046;1000g2015aug_eur=0.2018;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1182;1000g2015aug_all=0.0742812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,13:20:99:415,0,232 1 223718793 rs72747903 G C 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.056;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72747903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0497;1000g2015aug_afr=0.0219;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0189696;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,289 1 223722780 rs34606532 G A 997.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.823;DP=81;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.326;SOR=1.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34606532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5496;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.5692;1000g2015aug_all=0.44349;esp6500siv2_all=0.4564;ExAC_ALL=0.5061;ExAC_AFR=0.2513;ExAC_AMR=0.5634;ExAC_EAS=0.5543;ExAC_FIN=0.5549;ExAC_NFE=0.5684;ExAC_OTH=0.5906;ExAC_SAS=0.4852;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,34:81:99:1026,0,1447 1 223799857 rs34786756 C T 1737.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34786756;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6994;1000g2015aug_sas=0.7669;1000g2015aug_eur=0.6531;1000g2015aug_afr=0.947;1000g2015aug_amr=0.7003;1000g2015aug_all=0.76877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1766,159,0 1 223799871 rs35116708 C T 1829.77 PASS AC=2;AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35116708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.6044;1000g2015aug_afr=0.5696;1000g2015aug_amr=0.611;1000g2015aug_all=0.545128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1858,171,0 1 223805804 rs34893034 C T 648.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.976;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.109;SOR=0.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34893034;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.047;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.1988;1000g2015aug_all=0.142772;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,26:70:99:677,0,1215 1 223806157 rs35164209 T C 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.755;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=1.31;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35164209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.047;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1596;1000g2015aug_amr=0.1974;1000g2015aug_all=0.142572;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:294,0,226 1 223806211 rs34079465 T A 298.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34079465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7798;1000g2015aug_sas=0.9151;1000g2015aug_eur=0.998;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9006;1000g2015aug_all=0.924521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:327,27,0 1 223807239 rs34693465 C G 1715.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.209;DP=121;ExcessHet=3.0103;FS=2.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.361;SOR=0.954;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34693465;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.1176;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.2176;1000g2015aug_all=0.19389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,61:121:99:1744,0,1761 1 223807262 rs34900680 G A 1508.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.776;DP=105;ExcessHet=3.0103;FS=3.794;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.064;SOR=1.076;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34900680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1141;1000g2015aug_sas=0.0532;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.1988;1000g2015aug_all=0.144968;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,54:105:99:1537,0,1526 1 223810318 rs61825177 G A 789.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.189;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.424;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61825177;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.3956;1000g2015aug_amr=0.4063;1000g2015aug_all=0.395966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,28:49:99:818,0,662 1 223811436 rs61825180 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2498\x3bName\x3e"395818:AluSc5(SINE)";avsnp150=rs61825180;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.544;1000g2015aug_eur=0.4453;1000g2015aug_afr=0.5204;1000g2015aug_amr=0.4712;1000g2015aug_all=0.482827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223813299 rs34993691 G A 93.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.908;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.82;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34993691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.674;1000g2015aug_amr=0.5432;1000g2015aug_all=0.604633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,4:11:99:122,0,259 1 223813586 rs35539373 G T 375.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.21;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.91;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=exonic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN8:NM_001143962:exon6:c.C734A:p.S245Y;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35539373;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.674;1000g2015aug_amr=0.5432;1000g2015aug_all=0.604233;esp6500siv2_all=0.5797;ExAC_ALL=0.5895;ExAC_AFR=0.6544;ExAC_AMR=0.5780;ExAC_EAS=0.5370;ExAC_FIN=0.4099;ExAC_NFE=0.5603;ExAC_OTH=0.5636;ExAC_SAS=0.6454;SIFT_score=0.027;SIFT_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.939;Polyphen2_HVAR_pred=D;LRT_score=0.013;LRT_pred=U;MutationTaster_score=0.100;MutationTaster_pred=P;MutationAssessor_score=2.98;MutationAssessor_pred=M;FATHMM_score=2.41;FATHMM_pred=T;phyloP100way_vertebrate=7.996;phyloP20way_mammalian=0.953;SiPhy_29way_logOdds=15.249;gerp++gt2=4.44;CADD=5.325;CADD_Phred=25.8;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:404,0,430 1 223814671 rs61825208 A T 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.253;DP=32;ExcessHet=3.0103;FS=1.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=-0.02;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61825208;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.6769;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.671;1000g2015aug_amr=0.5432;1000g2015aug_all=0.604034;esp6500siv2_all=0.5797;ExAC_ALL=0.5998;ExAC_AFR=0.6641;ExAC_AMR=0.6059;ExAC_EAS=0.5423;ExAC_FIN=0.4435;ExAC_NFE=0.5691;ExAC_OTH=0.5739;ExAC_SAS=0.6470;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,10:32:99:253,0,583 1 223814682 rs67990281 A T 485.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.302;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.365;SOR=0.49;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67990281;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.047;1000g2015aug_eur=0.2058;1000g2015aug_afr=0.1611;1000g2015aug_amr=0.1988;1000g2015aug_all=0.143371;esp6500siv2_all=0.1921;ExAC_ALL=0.1486;ExAC_AFR=0.1762;ExAC_AMR=0.1676;ExAC_EAS=0.1263;ExAC_FIN=0.2661;ExAC_NFE=0.1917;ExAC_OTH=0.1681;ExAC_SAS=0.0711;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,20:34:99:514,0,347 1 223815575 rs34187970 G A 731.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e223\x3bName\x3e"395825:MIR3(SINE)";avsnp150=rs34187970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.7336;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.7622;1000g2015aug_all=0.796526;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:760,57,0 1 223816322 rs66602040 A G 2787.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=0.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e595\x3bName\x3e"395827:MER5A(DNA)";avsnp150=rs66602040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.9523;1000g2015aug_amr=0.755;1000g2015aug_all=0.796126;esp6500siv2_all=0.8055;ExAC_ALL=0.7697;ExAC_AFR=0.9315;ExAC_AMR=0.755;ExAC_EAS=0.6634;ExAC_FIN=0.6556;ExAC_NFE=0.7517;ExAC_OTH=0.7325;ExAC_SAS=0.7795;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2816,261,0 1 223816347 rs61825210 A G 2995.77 PASS AC=2;AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=0.807;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61825210;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6925;1000g2015aug_sas=0.7832;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.755;1000g2015aug_all=0.798722;esp6500siv2_all=0.8101;ExAC_ALL=0.7721;ExAC_AFR=0.9458;ExAC_AMR=0.7596;ExAC_EAS=0.6688;ExAC_FIN=0.6566;ExAC_NFE=0.7551;ExAC_OTH=0.7358;ExAC_SAS=0.7773;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,91:91:99:3024,273,0 1 223816577 rs61825211 T C 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61825211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.7356;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.755;1000g2015aug_all=0.796725;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 223830566 rs11584107 G A 617.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.302;DP=43;ExcessHet=3.0103;FS=1.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.961;SOR=0.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11584107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.121;1000g2015aug_sas=0.2699;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.3818;1000g2015aug_all=0.267173;esp6500siv2_all=.;ExAC_ALL=0.3439;ExAC_AFR=0.2553;ExAC_AMR=0.3587;ExAC_EAS=0.0455;ExAC_FIN=.;ExAC_NFE=0.4542;ExAC_OTH=0.2667;ExAC_SAS=0.3122;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,25:42:99:646,0,382 1 223841836 rs2105405 C T 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.842;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2105405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.1869;1000g2015aug_afr=0.2375;1000g2015aug_amr=0.1844;1000g2015aug_all=0.229034;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 223841877 rs2105406 C G 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.444;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.975;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366872.9,ENST00000366873.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2105406;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.501;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.2896;1000g2015aug_all=0.390375;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:173,0,288 1 223841913 rs11585533 C A 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.685;DP=23;ExcessHet=3.0103;FS=2.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.248;SOR=0.264;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11585533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1339;1000g2015aug_sas=0.3364;1000g2015aug_eur=0.4881;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3934;1000g2015aug_all=0.312899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,13:23:99:376,0,315 1 223852006 rs1857549 G A 56.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.01;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1857549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.9059;1000g2015aug_eur=1;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.9957;1000g2015aug_all=0.931909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:84,12,0 1 223853099 rs66700641 C A 1668.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.96;DP=166;ExcessHet=3.0103;FS=2.753;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.402;SOR=0.952;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN8;Func=intronic;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366873.6,ENST00000366872.9;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66700641;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0735;1000g2015aug_all=0.0325479;esp6500siv2_all=0.0686;ExAC_ALL=0.0616;ExAC_AFR=0.0129;ExAC_AMR=0.0634;ExAC_EAS=0;ExAC_FIN=0.1359;ExAC_NFE=0.0927;ExAC_OTH=0.0744;ExAC_SAS=0.0240;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:93,73:166:99:1697,0,2710 1 223853440 rs10916015 A G 483.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.17;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001143962;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916015;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.9059;1000g2015aug_eur=1;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.9957;1000g2015aug_all=0.932708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:512,39,0 1 223867631 rs7525504 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001143962,NM_001146068;GeneDetail=dist\x3e14195\x3bdist\x3e21664;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e560\x3bName\x3e"395929:MLT1M(LTR)";avsnp150=rs7525504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3165;1000g2015aug_sas=0.4663;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.3986;1000g2015aug_amr=0.4078;1000g2015aug_all=0.429513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223900408 rs25655 C G 2363.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=exonic;Gene=NM_001748;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN2:NM_001748:exon1:c.C66G:p.D22E;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs25655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9971;1000g2015aug_all=0.98742;esp6500siv2_all=0.9844;ExAC_ALL=0.9959;ExAC_AFR=0.9546;ExAC_AMR=0.9983;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=0.9969;ExAC_SAS=0.9996;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.869;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.885;MutationAssessor_pred=N;FATHMM_score=-4.24;FATHMM_pred=D;phyloP100way_vertebrate=0.317;phyloP20way_mammalian=-0.011;SiPhy_29way_logOdds=9.821;gerp++gt2=2.09;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2392,228,0 1 223905532 rs17596 G A 3813.77 PASS AC=2;AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.986;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=exonic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAPN2:NM_001146068:exon2:c.G72A:p.L24L,CAPN2:NM_001748:exon2:c.G306A:p.L102L;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.7382;1000g2015aug_eur=0.7634;1000g2015aug_afr=0.351;1000g2015aug_amr=0.6354;1000g2015aug_all=0.595447;esp6500siv2_all=0.6625;ExAC_ALL=0.7173;ExAC_AFR=0.4223;ExAC_AMR=0.6255;ExAC_EAS=0.5570;ExAC_FIN=0.8457;ExAC_NFE=0.7810;ExAC_OTH=0.7478;ExAC_SAS=0.7401;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,122:122:99:3842,365,0 1 223914453 rs7525446 C T 38.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7525446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.8231;1000g2015aug_eur=0.8588;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.9092;1000g2015aug_all=0.74361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:66,6,0 1 223931648 rs1222137 T C 829.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1222137;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9879;1000g2015aug_amr=1;1000g2015aug_all=0.996805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:858,69,0 1 223932229 rs1222136 G A 51.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433674.6,ENST00000295006.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1222136;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.9957;1000g2015aug_all=0.98722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 223933313 rs1222134 A T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e990\x3bName\x3e"396100:AluSz(SINE)";avsnp150=rs1222134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.9376;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.292;1000g2015aug_amr=0.7219;1000g2015aug_all=0.684505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 223934720 rs17600 G A 6104.77 PASS AC=2;AF=1;AN=2;DP=194;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=exonic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAPN2:NM_001146068:exon5:c.G348A:p.A116A,CAPN2:NM_001748:exon5:c.G582A:p.A194A;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7143;1000g2015aug_sas=0.9346;1000g2015aug_eur=0.9016;1000g2015aug_afr=0.289;1000g2015aug_amr=0.7233;1000g2015aug_all=0.683906;esp6500siv2_all=0.7357;ExAC_ALL=0.8303;ExAC_AFR=0.3798;ExAC_AMR=0.7202;ExAC_EAS=0.6789;ExAC_FIN=0.9099;ExAC_NFE=0.9062;ExAC_OTH=0.8678;ExAC_SAS=0.9302;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,194:194:99:6133,581,0 1 223935090 rs1222132 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433674.6,ENST00000295006.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1969\x3bName\x3e"396103:LTR48B(LTR)";avsnp150=rs1222132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 223938818 rs2298255 G A 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=intronic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433674.6,ENST00000295006.5;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298255;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1319;1000g2015aug_sas=0.2393;1000g2015aug_eur=0.3539;1000g2015aug_afr=0.2171;1000g2015aug_amr=0.3127;1000g2015aug_all=0.245008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 223954080 rs17599 A C 1978.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=exonic;Gene=NM_001146068,NM_001748;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN2:NM_001146068:exon16:c.A1468C:p.K490Q,CAPN2:NM_001748:exon16:c.A1702C:p.K568Q;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2698;1000g2015aug_sas=0.2239;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.0983;1000g2015aug_amr=0.2493;1000g2015aug_all=0.207268;esp6500siv2_all=0.2044;ExAC_ALL=0.2276;ExAC_AFR=0.1216;ExAC_AMR=0.2012;ExAC_EAS=0.2448;ExAC_FIN=0.2828;ExAC_NFE=0.2481;ExAC_OTH=0.2163;ExAC_SAS=0.1997;SIFT_score=0.037;SIFT_pred=D;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.885;MutationAssessor_pred=M;FATHMM_score=1.43;FATHMM_pred=T;phyloP100way_vertebrate=7.147;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=15.547;gerp++gt2=5.47;CADD=5.820;CADD_Phred=27.2;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2007,185,0 1 223962929 rs10961 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN2;Func=UTR3;Gene=NM_001146068,NM_001748;GeneDetail=NM_001146068:c.*370G>A\x3bNM_001748:c.*370G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295006.5,ENST00000433674.6;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4673;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.4841;1000g2015aug_all=0.543331;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 224044284 rs12730520 C A 537.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e10610\x3bdist\x3e94684;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.905273\x3bName\x3echr16:52934751;Repeat=.;avsnp150=rs12730520;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2055;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.232;1000g2015aug_all=0.185104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:566,48,0 1 224051439 rs6604731 C T 590.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e17765\x3bdist\x3e87529;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918903\x3bName\x3echr7:5527150;Repeat=.;avsnp150=rs6604731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.274;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.6483;1000g2015aug_amr=0.3444;1000g2015aug_all=0.389976;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:619,42,0 1 224051461 rs6658752 A G 790.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e17787\x3bdist\x3e87507;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918903\x3bName\x3echr7:5527150;Repeat=.;avsnp150=rs6658752;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1786;1000g2015aug_sas=0.2065;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.2363;1000g2015aug_all=0.185903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:819,60,0 1 224051926 rs7519753 T C 851.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e18252\x3bdist\x3e87042;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918903\x3bName\x3echr7:5527150;Repeat=.;avsnp150=rs7519753;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.2229;1000g2015aug_eur=0.2495;1000g2015aug_afr=0.4395;1000g2015aug_amr=0.2853;1000g2015aug_all=0.298922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:880,69,0 1 224052192 rs6696120 G C 1384.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=1.259;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e18518\x3bdist\x3e86776;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=Score\x3e0.918903\x3bName\x3echr7:5527150;Repeat=.;avsnp150=rs6696120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3631;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.3191;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.2781;1000g2015aug_all=0.439896;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1413,126,0 1 224058223 rs12024535 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e24549\x3bdist\x3e80745;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q41;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24158\x3bName\x3e"396322:L1PA8(LINE)";avsnp150=rs12024535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1885;1000g2015aug_sas=0.1329;1000g2015aug_eur=0.2475;1000g2015aug_afr=0.2095;1000g2015aug_amr=0.2334;1000g2015aug_all=0.201278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 224108661 rs4120683 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.34;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001031685,NR_132119;GeneDetail=dist\x3e74987\x3bdist\x3e30307;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=Score\x3e0.985722\x3bName\x3echr2:242119885;Repeat=Score\x3e354\x3bName\x3e"396450:L3(LINE)";avsnp150=rs4120683;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.2874;1000g2015aug_amr=0.3372;1000g2015aug_all=0.34365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 224139650 rs61825422 T C 385.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.37;QD=27.55;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGTF2IP20;Func=ncRNA_exonic;Gene=NR_132119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608760.2;cytoBand=1q42.11;wgRna=.;genomicSuperDups=Score\x3e0.983892\x3bName\x3echr9:138240721;Repeat=.;avsnp150=rs61825422;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1429;1000g2015aug_sas=0.2352;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.2651;1000g2015aug_all=0.28095;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:414,42,0 1 224139708 rs61825423 T C 404.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.76;QD=28.91;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGTF2IP20;Func=ncRNA_exonic;Gene=NR_132119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608760.2;cytoBand=1q42.11;wgRna=.;genomicSuperDups=Score\x3e0.983892\x3bName\x3echr9:138240721;Repeat=.;avsnp150=rs61825423;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1528;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.4135;1000g2015aug_afr=0.3162;1000g2015aug_amr=0.2651;1000g2015aug_all=0.280351;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:433,42,0 1 224140341 rs3991983 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.42;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGTF2IP20;Func=ncRNA_intronic;Gene=NR_132119;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608760.2;cytoBand=1q42.11;wgRna=.;genomicSuperDups=Score\x3e0.984851\x3bName\x3echr3:198177842;Repeat=Score\x3e2473\x3bName\x3e"396509:MER1A(DNA)";avsnp150=rs3991983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9879;1000g2015aug_amr=0.9957;1000g2015aug_all=0.996006;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 224245966 rs4653521 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_136593,NM_001136115;GeneDetail=dist\x3e24405\x3bdist\x3e55823;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2329\x3bName\x3e"396746:MER51B(LTR)";avsnp150=rs4653521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9909;1000g2015aug_amr=1;1000g2015aug_all=0.997604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 224287802 rs4653948 T G 153.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_136593,NM_001136115;GeneDetail=dist\x3e66241\x3bdist\x3e13987;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e330\x3bName\x3e"396855:L1MB8(LINE)";avsnp150=rs4653948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.996;1000g2015aug_sas=0.9877;1000g2015aug_eur=0.996;1000g2015aug_afr=0.6717;1000g2015aug_amr=0.9524;1000g2015aug_all=0.902756;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:182,18,0 1 224301749 rs6690695 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001136115,NM_015176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690695;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.3833;1000g2015aug_all=0.45028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 224302230 rs2280291 C G 506.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO28;Func=intronic;Gene=NM_001136115,NM_015176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000424254.6,ENST00000366862.9;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2280291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.3041;1000g2015aug_amr=0.4179;1000g2015aug_all=0.455871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:47:535,47,0 1 224321984 rs1472167 C T 811.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO28;Func=intronic;Gene=NM_001136115,NM_015176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366862.9,ENST00000424254.6;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1472167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.9957;1000g2015aug_all=0.994609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:840,75,0 1 224345012 rs7543762 G A 944.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFBXO28;Func=intronic;Gene=NM_001136115,NM_015176;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366862.9,ENST00000424254.6;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.9957;1000g2015aug_all=0.994609;esp6500siv2_all=0.9946;ExAC_ALL=0.9982;ExAC_AFR=0.9816;ExAC_AMR=0.9984;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9988;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:973,75,0 1 224377996 rs61732863 A G 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.239;DP=34;ExcessHet=3.0103;FS=1.599;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=0.945;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDEGS1;Func=exonic;Gene=NM_001321541,NM_001321542,NM_003676;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DEGS1:NM_001321541:exon2:c.A800G:p.N267S,DEGS1:NM_001321542:exon2:c.A692G:p.N231S,DEGS1:NM_003676:exon2:c.A800G:p.N267S;Gencode=Name\x3eENST00000323699.8,ENST00000391877.3;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61732863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00119808;esp6500siv2_all=0.0082;ExAC_ALL=0.0086;ExAC_AFR=0.0022;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0109;ExAC_NFE=0.0128;ExAC_OTH=0.0128;ExAC_SAS=0.0001;SIFT_score=0.934;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.995;MutationTaster_pred=D;MutationAssessor_score=-0.14;MutationAssessor_pred=N;FATHMM_score=2.34;FATHMM_pred=T;phyloP100way_vertebrate=5.154;phyloP20way_mammalian=-0.141;SiPhy_29way_logOdds=9.126;gerp++gt2=2.16;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,10:34:99:247,0,718 1 224391373 rs2405304 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001321541,NR_110669;GeneDetail=dist\x3e10231\x3bdist\x3e5077;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2405304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1468;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.5;1000g2015aug_afr=0.205;1000g2015aug_amr=0.3559;1000g2015aug_all=0.345647;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 224438220 rs10916562 T C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391875.6,ENST00000469075.5,ENST00000482491.5,ENST00000281701.10,ENST00000469968.5,ENST00000340871.8;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1717\x3bName\x3e"397280:AluJb(SINE)";avsnp150=rs10916562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.9885;1000g2015aug_all=0.970847;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 224441040 rs75686904 C T 63.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000482491.5,ENST00000391875.6,ENST00000469075.5,ENST00000340871.8,ENST00000469968.5,ENST00000281701.10;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2109\x3bName\x3e"397291:AluSg7(SINE)";avsnp150=rs75686904;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.2276;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.0922;1000g2015aug_all=0.115815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 224444628 rs10799556 C T 1008.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391875.6,ENST00000469075.5,ENST00000482491.5,ENST00000469968.5,ENST00000281701.10,ENST00000340871.8;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e692\x3bName\x3e"397307:L2(LINE)";avsnp150=rs10799556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.9712;1000g2015aug_all=0.930911;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1037,90,0 1 224444901 rs2897055 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469075.5,ENST00000391875.6,ENST00000482491.5,ENST00000281701.10,ENST00000469968.5,ENST00000340871.8;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2897055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 224482216 rs2404783 T C 485.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=3.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000482491.5,ENST00000469075.5,ENST00000391875.6,ENST00000340871.8,ENST00000469968.5,ENST00000281701.10;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2404783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9652;1000g2015aug_afr=0.531;1000g2015aug_amr=0.9323;1000g2015aug_all=0.821286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:514,39,0 1 224491264 rs4654018 T A 565.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000482491.5,ENST00000391875.6,ENST00000469075.5,ENST00000340871.8,ENST00000281701.10,ENST00000469968.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9971;1000g2015aug_all=0.989617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:594,45,0 1 224492381 rs7522125 C T 921.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=3.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000482491.5,ENST00000469075.5,ENST00000391875.6,ENST00000340871.8,ENST00000469968.5,ENST00000281701.10;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9622;1000g2015aug_amr=0.9971;1000g2015aug_all=0.989617;esp6500siv2_all=0.9893;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:950,78,0 1 224492746 rs3754090 C T 966.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=exonic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NVL:NM_001243146:exon4:c.G90A:p.L30L,NVL:NM_001243147:exon6:c.G465A:p.L155L,NVL:NM_206840:exon6:c.G420A:p.L140L,NVL:NM_002533:exon7:c.G738A:p.L246L;Gencode=Name\x3eENST00000340871.8,ENST00000469968.5,ENST00000281701.10,ENST00000482491.5,ENST00000469075.5,ENST00000391875.6;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.5242;1000g2015aug_amr=0.9337;1000g2015aug_all=0.820088;esp6500siv2_all=0.8252;ExAC_ALL=0.9137;ExAC_AFR=0.5795;ExAC_AMR=0.9610;ExAC_EAS=0.8982;ExAC_FIN=0.9760;ExAC_NFE=0.9487;ExAC_OTH=0.9493;ExAC_SAS=0.9311;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:995,93,0 1 224495852 rs7534447 C T 3200.77 PASS AC=2;AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=0.866;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=exonic;Gene=NM_002533,NM_206840;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=NVL:NM_206840:exon5:c.G138A:p.R46R,NVL:NM_002533:exon6:c.G456A:p.R152R;Gencode=Name\x3eENST00000482491.5,ENST00000391875.6,ENST00000469075.5,ENST00000340871.8,ENST00000281701.10,ENST00000469968.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7534447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.9337;1000g2015aug_all=0.821685;esp6500siv2_all=0.8272;ExAC_ALL=0.9143;ExAC_AFR=0.5849;ExAC_AMR=0.9611;ExAC_EAS=0.8986;ExAC_FIN=0.9760;ExAC_NFE=0.9488;ExAC_OTH=0.9493;ExAC_SAS=0.9310;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3229,294,0 1 224499212 rs7531894 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000281701.10,ENST00000469968.5,ENST00000340871.8,ENST00000469075.5,ENST00000391875.6,ENST00000482491.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1891\x3bName\x3e"397462:AluJb(SINE)";avsnp150=rs7531894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.998;1000g2015aug_afr=0.7163;1000g2015aug_amr=0.9755;1000g2015aug_all=0.920327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 224514275 rs4653578 G A 179.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=intronic;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000469968.5,ENST00000281701.10,ENST00000340871.8,ENST00000469075.5,ENST00000391875.6,ENST00000482491.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:208,15,0 1 224517842 rs2896990 C T 1679.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNVL;Func=UTR5;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=NM_001243146:c.-25007G>A\x3bNM_001243147:c.-13G>A\x3bNM_002533:c.-13G>A\x3bNM_206840:c.-18317G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000281701.10,ENST00000391875.6,ENST00000482491.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2896990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.5605;1000g2015aug_amr=0.9337;1000g2015aug_all=0.829872;esp6500siv2_all=0.8333;ExAC_ALL=0.9164;ExAC_AFR=0.6061;ExAC_AMR=0.9620;ExAC_EAS=0.8985;ExAC_FIN=0.9765;ExAC_NFE=0.9489;ExAC_OTH=0.9489;ExAC_SAS=0.9311;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1708,150,0 1 224517907 rs4146965 A T 1079.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000281701.10;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4146965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.5242;1000g2015aug_amr=0.9337;1000g2015aug_all=0.820288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1108,96,0 1 224518074 rs4146966 T C 353.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000281701.10;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4146966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9172;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.9337;1000g2015aug_all=0.821685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:382,30,0 1 224518143 rs4654023 T C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001243146,NM_001243147,NM_002533,NM_206840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4654023;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8899;1000g2015aug_sas=0.9223;1000g2015aug_eur=0.9702;1000g2015aug_afr=0.907;1000g2015aug_amr=0.9712;1000g2015aug_all=0.928115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 224565821 rs6701145 A T 119.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCNIH4;Func=intronic;Gene=NM_001277200;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366858.7,ENST00000366856.3,ENST00000366857.9,ENST00000465271.5;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1818\x3bName\x3e"397658:AluJr(SINE)";avsnp150=rs6701145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.1254;1000g2015aug_all=0.128195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:148,18,0 1 224585958 rs7522956 A C 992.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26,MIR4742;Func=ncRNA_exonic;Gene=NR_039896;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000581069.1,ENST00000414423.6;cytoBand=1q42.11;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.1686;1000g2015aug_all=0.231629;esp6500siv2_all=0.3093;ExAC_ALL=0.2169;ExAC_AFR=0.4835;ExAC_AMR=0.1163;ExAC_EAS=0.0027;ExAC_FIN=0.2314;ExAC_NFE=0.2406;ExAC_OTH=0.2165;ExAC_SAS=0.1262;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1021,93,0 1 224588373 rs35169600 G A 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2497\x3bName\x3e"397691:AluSq2(SINE)";avsnp150=rs35169600;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2495;1000g2015aug_afr=0.553;1000g2015aug_amr=0.17;1000g2015aug_all=0.24361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 224588825 rs7518109 T A 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1125;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.553;1000g2015aug_amr=0.17;1000g2015aug_all=0.24401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 224600910 rs10916612 C A 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.63;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916612;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9513;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.9568;1000g2015aug_all=0.931909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 224600920 rs10916613 C A 649.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=0.914;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.9942;1000g2015aug_all=0.991214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:678,54,0 1 224605825 rs12739486 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12739486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.5068;1000g2015aug_amr=0.1686;1000g2015aug_all=0.23103;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 224606249 rs10495219 C G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.95;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0109;1000g2015aug_sas=0.1115;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.5098;1000g2015aug_amr=0.1686;1000g2015aug_all=0.231829;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 224621368 rs2405033 G C 510.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=intronic;Gene=NM_001115113,NM_025160;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2405033;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9998;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:539,42,0 1 224621934 rs35365551 G C 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR26;Func=UTR5;Gene=NM_001115113,NM_025160;GeneDetail=NM_001115113:c.-127C>G\x3bNM_025160:c.-127C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000414423.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e30\x3bName\x3e"397763:(GGA)n(Simple_repeat)";avsnp150=rs35365551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.2435;1000g2015aug_afr=0.149;1000g2015aug_amr=0.1254;1000g2015aug_all=0.127995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 224657445 rs7541403 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001322302,NM_001322303,NM_001322304;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1205\x3bName\x3e"397852:L1MD2(LINE)";avsnp150=rs7541403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9692;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.6959;1000g2015aug_amr=0.9006;1000g2015aug_all=0.839257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 224762366 rs61825844 C G 83.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001322302,NM_001322303,NM_001322304;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.907029\x3bName\x3echr11:16483375;Repeat=.;avsnp150=rs61825844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0593;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0403;1000g2015aug_all=0.038139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:112,0,103 1 224944679 rs2802747 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001322302,NM_001373;GeneDetail=dist\x3e16428\x3bdist\x3e172677;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6706;1000g2015aug_sas=0.683;1000g2015aug_eur=0.833;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.7421;1000g2015aug_all=0.756989;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 225084219 rs12563323 C T 574.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.436;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.363;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001322302,NM_001373;GeneDetail=dist\x3e155968\x3bdist\x3e33137;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12563323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2401;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1541;1000g2015aug_afr=0.0416;1000g2015aug_amr=0.2464;1000g2015aug_all=0.165335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:603,0,612 1 225108346 rs12565019 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001322302,NM_001373;GeneDetail=dist\x3e180095\x3bdist\x3e9010;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2192\x3bName\x3e"398783:AluSx(SINE)";avsnp150=rs12565019;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.1902;1000g2015aug_all=0.113419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 225111228 rs16858299 T A 1181.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.683;DP=57;ExcessHet=3.0103;FS=1.514;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.73;ReadPosRankSum=-0.186;SOR=0.481;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001322302,NM_001373;GeneDetail=dist\x3e182977\x3bdist\x3e6128;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16858299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2252;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.2017;1000g2015aug_all=0.148962;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,38:57:99:1210,0,531 1 225117561 rs2501078 T C 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.025;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001145154,NM_001349911,NM_001349912,NM_001373,NM_144989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000366849.5,ENST00000400952.7,ENST00000430092.5,ENST00000366850.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501078;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.2096;1000g2015aug_eur=0.1223;1000g2015aug_afr=0.5424;1000g2015aug_amr=0.2666;1000g2015aug_all=0.29373;esp6500siv2_all=.;ExAC_ALL=0.2191;ExAC_AFR=0.4203;ExAC_AMR=0.1667;ExAC_EAS=0.2717;ExAC_FIN=.;ExAC_NFE=0.1625;ExAC_OTH=0.2069;ExAC_SAS=0.2299;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:188,0,139 1 225146177 rs2128270 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001145154,NM_001349911,NM_001349912,NM_001373,NM_144989;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366848.5,ENST00000439375.6,ENST00000366850.7,ENST00000400952.7,ENST00000430092.5,ENST00000445597.6,ENST00000366849.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2360\x3bName\x3e"398836:L2(LINE)";avsnp150=rs2128270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.2579;1000g2015aug_all=0.264577;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 225156655 rs10495229 C T 525.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.536;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.638;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=UTR3;Gene=NM_001349912;GeneDetail=NM_001349912:c.*75C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000400952.7,ENST00000430092.5,ENST00000439375.6,ENST00000366849.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.183;1000g2015aug_all=0.110423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,18:37:99:554,0,512 1 225156712 rs16858932 C T 266.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.283;DP=24;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.751;SOR=0.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=UTR3;Gene=NM_001349912;GeneDetail=NM_001349912:c.*132C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000400952.7,ENST00000366849.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16858932;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.183;1000g2015aug_all=0.110423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:295,0,361 1 225156844 rs2489346 A G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.645;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=UTR3;Gene=NM_001349912;GeneDetail=NM_001349912:c.*264A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430092.5,ENST00000400952.7,ENST00000439375.6,ENST00000445597.6,ENST00000366849.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e275\x3bName\x3e"398855:Tigger15a(DNA)";avsnp150=rs2489346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2907;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.1183;1000g2015aug_afr=0.6634;1000g2015aug_amr=0.2723;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 225230608 rs2501107 C T 684.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.639;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.229;SOR=0.798;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAH14:NM_001373:exon13:c.C1560T:p.C520C;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2501107;cosmic70=.;CLNALLELEID=389376;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.3616;1000g2015aug_amr=0.7651;1000g2015aug_all=0.701278;esp6500siv2_all=0.8244;ExAC_ALL=0.8659;ExAC_AFR=0.4841;ExAC_AMR=0.7967;ExAC_EAS=0.6833;ExAC_FIN=0.9700;ExAC_NFE=0.9502;ExAC_OTH=0.8629;ExAC_SAS=0.8707;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,28:67:99:713,0,1021 1 225249910 rs2456331 T G 83.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1759\x3bName\x3e"399001:AluJb(SINE)";avsnp150=rs2456331;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.6104;1000g2015aug_amr=0.9654;1000g2015aug_all=0.891973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:111,9,0 1 225266966 rs3105559 C G 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=1.834;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon18:c.C2482G:p.L828V;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3105559;cosmic70=.;CLNALLELEID=389361;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7651;1000g2015aug_all=0.702276;esp6500siv2_all=0.8266;ExAC_ALL=0.8654;ExAC_AFR=0.4864;ExAC_AMR=0.8039;ExAC_EAS=0.6833;ExAC_FIN=0.9710;ExAC_NFE=0.9497;ExAC_OTH=0.8595;ExAC_SAS=0.8707;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.42;FATHMM_pred=T;phyloP100way_vertebrate=0.359;phyloP20way_mammalian=0.076;SiPhy_29way_logOdds=4.694;gerp++gt2=2.41;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:115,0,65 1 225268343 rs3128651 A G 1650.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.038;DP=123;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.153;SOR=0.755;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon19:c.A3029G:p.K1010R;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128651;cosmic70=.;CLNALLELEID=389366;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7651;1000g2015aug_all=0.703275;esp6500siv2_all=0.8268;ExAC_ALL=0.8654;ExAC_AFR=0.4903;ExAC_AMR=0.7944;ExAC_EAS=0.6857;ExAC_FIN=0.9707;ExAC_NFE=0.9487;ExAC_OTH=0.86;ExAC_SAS=0.8706;SIFT_score=0.739;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.51;FATHMM_pred=T;phyloP100way_vertebrate=-0.598;phyloP20way_mammalian=0.113;SiPhy_29way_logOdds=4.583;gerp++gt2=3.22;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:76,46:122:99:1679,0,4503 1 225268346 rs3128652 G A 1647.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.622;DP=120;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.652;SOR=0.744;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon19:c.G3032A:p.R1011Q;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128652;cosmic70=.;CLNALLELEID=389396;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7262;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7651;1000g2015aug_all=0.702676;esp6500siv2_all=0.8268;ExAC_ALL=0.8663;ExAC_AFR=0.4929;ExAC_AMR=0.7941;ExAC_EAS=0.6857;ExAC_FIN=0.9702;ExAC_NFE=0.9492;ExAC_OTH=0.8622;ExAC_SAS=0.8706;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.59;FATHMM_pred=T;phyloP100way_vertebrate=-2.592;phyloP20way_mammalian=-1.227;SiPhy_29way_logOdds=6.116;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:73,46:119:99:1676,0,4525 1 225270409 rs3128655 A T 731.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.564;DP=74;ExcessHet=3.0103;FS=0.919;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-2.134;SOR=0.511;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon20:c.A3295T:p.N1099Y;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128655;cosmic70=.;CLNALLELEID=389369;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.7771;1000g2015aug_eur=0.8817;1000g2015aug_afr=0.3366;1000g2015aug_amr=0.7277;1000g2015aug_all=0.662141;esp6500siv2_all=0.7617;ExAC_ALL=0.8020;ExAC_AFR=0.4473;ExAC_AMR=0.7599;ExAC_EAS=0.6780;ExAC_FIN=0.8732;ExAC_NFE=0.8836;ExAC_OTH=0.7934;ExAC_SAS=0.8046;SIFT_score=0.251;SIFT_pred=T;Polyphen2_HDIV_score=0.965;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.66;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.08;FATHMM_pred=T;phyloP100way_vertebrate=1.587;phyloP20way_mammalian=1.044;SiPhy_29way_logOdds=7.023;gerp++gt2=.;CADD=1.935;CADD_Phred=15.81;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,32:74:99:760,0,1113 1 225273248 rs3128658 G T 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.185;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.791;SOR=0.293;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon21:c.G3330T:p.M1110I;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3128658;cosmic70=.;CLNALLELEID=389401;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7202;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7651;1000g2015aug_all=0.702077;esp6500siv2_all=0.8251;ExAC_ALL=0.8666;ExAC_AFR=0.4836;ExAC_AMR=0.8;ExAC_EAS=0.6855;ExAC_FIN=0.9705;ExAC_NFE=0.9503;ExAC_OTH=0.8583;ExAC_SAS=0.8752;SIFT_score=0.56;SIFT_pred=T;Polyphen2_HDIV_score=0.11;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.082;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.32;FATHMM_pred=T;phyloP100way_vertebrate=1.576;phyloP20way_mammalian=1.012;SiPhy_29way_logOdds=8.874;gerp++gt2=3.9;CADD=0.984;CADD_Phred=10.57;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:218,0,220 1 225273633 rs3105565 T A 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3105565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7212;1000g2015aug_sas=0.8333;1000g2015aug_eur=0.9553;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.7651;1000g2015aug_all=0.702276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:81,0,30 1 225288534 rs3105571 A C 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.047;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon23:c.A3815C:p.E1272A;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3105571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.1916;1000g2015aug_all=0.124201;esp6500siv2_all=0.0456;ExAC_ALL=0.0748;ExAC_AFR=0.0746;ExAC_AMR=0.1601;ExAC_EAS=0.2671;ExAC_FIN=0.0296;ExAC_NFE=0.0446;ExAC_OTH=0.0958;ExAC_SAS=0.0970;SIFT_score=0.134;SIFT_pred=T;Polyphen2_HDIV_score=0.573;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.23;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.0;FATHMM_pred=T;phyloP100way_vertebrate=3.037;phyloP20way_mammalian=0.204;SiPhy_29way_logOdds=8.991;gerp++gt2=3.41;CADD=1.406;CADD_Phred=12.82;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:177,0,219 1 225305572 rs16843988 C G 338.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.215;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.327;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16843988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.183;1000g2015aug_all=0.112021;esp6500siv2_all=0.0355;ExAC_ALL=0.0700;ExAC_AFR=0.0297;ExAC_AMR=0.1544;ExAC_EAS=0.2653;ExAC_FIN=0.0296;ExAC_NFE=0.0441;ExAC_OTH=0.0917;ExAC_SAS=0.0976;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,13:25:99:367,0,392 1 225307154 rs10915782 A G 56.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.253;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.232;1000g2015aug_all=0.292732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:85:85,0,111 1 225307168 rs10915783 A G 56.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915783;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.0447;1000g2015aug_afr=0.6172;1000g2015aug_amr=0.232;1000g2015aug_all=0.292732;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:85:85,0,111 1 225334800 rs1480104 T A 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.155;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.27;ReadPosRankSum=-0.283;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1480104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0427;1000g2015aug_afr=0.0779;1000g2015aug_amr=0.1931;1000g2015aug_all=0.1248;esp6500siv2_all=0.0140;ExAC_ALL=0.0764;ExAC_AFR=0.0781;ExAC_AMR=0.1536;ExAC_EAS=0.2955;ExAC_FIN=0.0303;ExAC_NFE=0.0465;ExAC_OTH=0.0938;ExAC_SAS=0.1000;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,10:14:67:312,0,67 1 225341687 rs16844377 A G 358.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.259;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.068;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16844377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2202;1000g2015aug_sas=0.1227;1000g2015aug_eur=0.0477;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.1988;1000g2015aug_all=0.176318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:387,0,416 1 225380564 rs191528375 A G 153.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.94;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.19;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon37:c.A5771G:p.K1924R;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs191528375;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.0149;1000g2015aug_afr=.;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00419329;esp6500siv2_all=.;ExAC_ALL=0.0065;ExAC_AFR=0.0019;ExAC_AMR=0.0128;ExAC_EAS=0;ExAC_FIN=0.0092;ExAC_NFE=0.0135;ExAC_OTH=0.0134;ExAC_SAS=0;SIFT_score=0.052;SIFT_pred=T;Polyphen2_HDIV_score=0.008;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=0.41;MutationAssessor_pred=N;FATHMM_score=3.3;FATHMM_pred=T;phyloP100way_vertebrate=0.836;phyloP20way_mammalian=-0.309;SiPhy_29way_logOdds=8.611;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:182,0,216 1 225439988 rs630120 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.83;ReadPosRankSum=0.878;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs630120;cosmic70=.;CLNALLELEID=389377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.2316;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.4568;1000g2015aug_all=0.485024;esp6500siv2_all=0.3473;ExAC_ALL=0.3252;ExAC_AFR=0.6303;ExAC_AMR=0.3848;ExAC_EAS=0.6559;ExAC_FIN=0.2025;ExAC_NFE=0.2318;ExAC_OTH=0.3223;ExAC_SAS=0.3423;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,7:25:99:149,0,536 1 225445652 rs670255 G T 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.908;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=-0.723;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs670255;cosmic70=.;CLNALLELEID=389378;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.2306;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.4582;1000g2015aug_all=0.485024;esp6500siv2_all=0.3244;ExAC_ALL=0.3248;ExAC_AFR=0.6239;ExAC_AMR=0.3832;ExAC_EAS=0.6637;ExAC_FIN=0.2026;ExAC_NFE=0.2300;ExAC_OTH=0.325;ExAC_SAS=0.3455;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,122 1 225477491 rs12024361 C T 438.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12024361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.3934;1000g2015aug_all=0.338458;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:467,36,0 1 225477546 rs12042076 A C 928.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.3948;1000g2015aug_all=0.338658;esp6500siv2_all=0.2937;ExAC_ALL=0.3509;ExAC_AFR=0.1402;ExAC_AMR=0.4375;ExAC_EAS=0.4695;ExAC_FIN=0.4118;ExAC_NFE=0.3719;ExAC_OTH=0.4239;ExAC_SAS=0.5091;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:957,81,0 1 225477793 rs12042900 T G 582.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042900;cosmic70=.;CLNALLELEID=389402;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.4683;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.1127;1000g2015aug_amr=0.3948;1000g2015aug_all=0.338458;esp6500siv2_all=0.2941;ExAC_ALL=0.3935;ExAC_AFR=0.1470;ExAC_AMR=0.4392;ExAC_EAS=0.4680;ExAC_FIN=0.4118;ExAC_NFE=0.3808;ExAC_OTH=0.4265;ExAC_SAS=0.5117;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:611,54,0 1 225490809 rs17580673 C T 493.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.487;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=-0.871;SOR=0.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17580673;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1409;1000g2015aug_sas=0.2117;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.098;1000g2015aug_all=0.120008;esp6500siv2_all=.;ExAC_ALL=0.1590;ExAC_AFR=0.0162;ExAC_AMR=0.0714;ExAC_EAS=0.1020;ExAC_FIN=0.2174;ExAC_NFE=0.1600;ExAC_OTH=0.1354;ExAC_SAS=0.2198;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,15:30:99:522,0,508 1 225492545 rs1995482 A G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1995482;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.332;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.3804;1000g2015aug_all=0.325679;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 225492845 rs12034925 C T 709.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=1.931;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12034925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4415;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.332;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.3862;1000g2015aug_all=0.338059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:738,66,0 1 225510641 rs1532771 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1532771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.5573;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.4063;1000g2015aug_all=0.425719;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 225511905 rs10799300 T C 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.734;DP=18;ExcessHet=3.0103;FS=2.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.935;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1736;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.1918;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.1801;1000g2015aug_all=0.249601;esp6500siv2_all=0.2453;ExAC_ALL=0.2384;ExAC_AFR=0.3487;ExAC_AMR=0.1980;ExAC_EAS=0.1447;ExAC_FIN=0.2269;ExAC_NFE=0.1915;ExAC_OTH=0.2314;ExAC_SAS=0.2722;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:195,0,328 1 225512083 rs12032942 A G 377.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.397;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.207;SOR=0.351;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12032942;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1167;1000g2015aug_all=0.139776;esp6500siv2_all=0.1253;ExAC_ALL=0.1803;ExAC_AFR=0.0461;ExAC_AMR=0.1281;ExAC_EAS=0.1262;ExAC_FIN=0.2007;ExAC_NFE=0.1526;ExAC_OTH=0.1653;ExAC_SAS=0.2529;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:406,0,426 1 225519445 rs78032721 G T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.88;SOR=0.074;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78032721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1399;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1581;1000g2015aug_afr=0.0522;1000g2015aug_amr=0.1196;1000g2015aug_all=0.145567;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:149,0,176 1 225527563 rs6701436 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e547\x3bName\x3e"399379:L2(LINE)";avsnp150=rs6701436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5099;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.643;1000g2015aug_amr=0.4697;1000g2015aug_all=0.529952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 225528183 rs3856145 C A 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.803;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.108;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon67:c.C10179A:p.D3393E;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856145;cosmic70=.;CLNALLELEID=389404;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.643;1000g2015aug_amr=0.4697;1000g2015aug_all=0.529752;esp6500siv2_all=0.4926;ExAC_ALL=0.4934;ExAC_AFR=0.6234;ExAC_AMR=0.4854;ExAC_EAS=0.5032;ExAC_FIN=0.3235;ExAC_NFE=0.4063;ExAC_OTH=0.5263;ExAC_SAS=0.5511;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.341;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.152;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=2.02;FATHMM_pred=T;phyloP100way_vertebrate=0.346;phyloP20way_mammalian=-0.001;SiPhy_29way_logOdds=1.468;gerp++gt2=.;CADD=2.791;CADD_Phred=21.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:150,0,393 1 225528189 rs115148958 C T 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.316;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.175;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAH14:NM_001373:exon67:c.C10185T:p.P3395P;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115148958;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0101;1000g2015aug_all=0.0103834;esp6500siv2_all=0.0164;ExAC_ALL=0.0144;ExAC_AFR=0.0023;ExAC_AMR=0.0098;ExAC_EAS=0;ExAC_FIN=0.0588;ExAC_NFE=0.0196;ExAC_OTH=0.0158;ExAC_SAS=0.0133;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:184,0,390 1 225533684 rs6667999 A G 179.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.439;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon68:c.A10420G:p.K3474E;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667999;cosmic70=.;CLNALLELEID=389385;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.6399;1000g2015aug_amr=0.4697;1000g2015aug_all=0.528954;esp6500siv2_all=0.4923;ExAC_ALL=0.5070;ExAC_AFR=0.6296;ExAC_AMR=0.5103;ExAC_EAS=0.5033;ExAC_FIN=0.4534;ExAC_NFE=0.4205;ExAC_OTH=0.5278;ExAC_SAS=0.5738;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.59;FATHMM_pred=T;phyloP100way_vertebrate=2.235;phyloP20way_mammalian=0.113;SiPhy_29way_logOdds=7.398;gerp++gt2=3.37;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,284 1 225533931 rs17522489 A G 635.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.789;DP=52;ExcessHet=3.0103;FS=5.477;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.026;SOR=0.687;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon68:c.A10667G:p.Q3556R;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17522489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1389;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.1571;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1182;1000g2015aug_all=0.139377;esp6500siv2_all=0.1253;ExAC_ALL=0.1759;ExAC_AFR=0.0460;ExAC_AMR=0.125;ExAC_EAS=0.1270;ExAC_FIN=0.1875;ExAC_NFE=0.1463;ExAC_OTH=0.1526;ExAC_SAS=0.2496;SIFT_score=0.502;SIFT_pred=T;Polyphen2_HDIV_score=0.642;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.274;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.42;FATHMM_pred=T;phyloP100way_vertebrate=0.802;phyloP20way_mammalian=1.156;SiPhy_29way_logOdds=13.018;gerp++gt2=5.45;CADD=1.337;CADD_Phred=12.46;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,27:52:99:664,0,706 1 225534219 rs7527925 T C 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.043;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.178;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon69:c.T10880C:p.V3627A;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527925;cosmic70=.;CLNALLELEID=389383;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.4697;1000g2015aug_all=0.529153;esp6500siv2_all=0.4928;ExAC_ALL=0.4936;ExAC_AFR=0.6224;ExAC_AMR=0.4854;ExAC_EAS=0.5032;ExAC_FIN=0.3235;ExAC_NFE=0.4066;ExAC_OTH=0.5263;ExAC_SAS=0.5510;SIFT_score=0.75;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.76;FATHMM_pred=T;phyloP100way_vertebrate=0.071;phyloP20way_mammalian=0.048;SiPhy_29way_logOdds=3.728;gerp++gt2=3.53;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:316,0,373 1 225534348 rs7535953 G A 205.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.969;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=0.371;SOR=0.116;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon69:c.G11009A:p.R3670K;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535953;cosmic70=.;CLNALLELEID=389387;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.4046;1000g2015aug_afr=0.6407;1000g2015aug_amr=0.4697;1000g2015aug_all=0.529153;esp6500siv2_all=.;ExAC_ALL=0.5123;ExAC_AFR=0.6337;ExAC_AMR=0.5158;ExAC_EAS=0.5067;ExAC_FIN=0.3235;ExAC_NFE=0.4236;ExAC_OTH=0.5632;ExAC_SAS=0.5723;SIFT_score=0.087;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.05;FATHMM_pred=T;phyloP100way_vertebrate=-0.104;phyloP20way_mammalian=0.116;SiPhy_29way_logOdds=6.728;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,9:13:99:234,0,128 1 225539665 rs3856150 T A 51.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.789;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=0.722;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7698;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.5368;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.696;1000g2015aug_all=0.710663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,3:15:80:80,0,342 1 225555512 rs11578981 C T 865.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.319;DP=72;ExcessHet=3.0103;FS=1.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.778;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAH14:NM_001373:exon75:c.C11817T:p.A3939A;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11578981;cosmic70=.;CLNALLELEID=389391;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.2761;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.4366;1000g2015aug_all=0.32508;esp6500siv2_all=0.4641;ExAC_ALL=0.4281;ExAC_AFR=0.2474;ExAC_AMR=0.4632;ExAC_EAS=0.1932;ExAC_FIN=0.6471;ExAC_NFE=0.5841;ExAC_OTH=0.3989;ExAC_SAS=0.3254;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,38:72:99:894,0,863 1 225555602 rs12737248 T G 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.657;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.69;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon75:c.T11907G:p.N3969K;Gencode=Name\x3eENST00000445597.6,ENST00000439375.6,ENST00000430092.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737248;cosmic70=.;CLNALLELEID=389393;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.4366;1000g2015aug_all=0.329473;esp6500siv2_all=0.4685;ExAC_ALL=0.4334;ExAC_AFR=0.2519;ExAC_AMR=0.4634;ExAC_EAS=0.1913;ExAC_FIN=0.6471;ExAC_NFE=0.5865;ExAC_OTH=0.4105;ExAC_SAS=0.3351;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=3.16;FATHMM_pred=T;phyloP100way_vertebrate=-1.635;phyloP20way_mammalian=-2.022;SiPhy_29way_logOdds=1.982;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,30:59:99:837,0,761 1 225562385 rs10915816 C T 1431.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.689;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.592;SOR=0.749;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915816;cosmic70=.;CLNALLELEID=389386;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9663;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.841;1000g2015aug_afr=0.357;1000g2015aug_amr=0.8631;1000g2015aug_all=0.709665;esp6500siv2_all=0.7234;ExAC_ALL=0.7486;ExAC_AFR=0.4361;ExAC_AMR=0.8634;ExAC_EAS=0.9484;ExAC_FIN=0.8158;ExAC_NFE=0.8497;ExAC_OTH=0.8245;ExAC_SAS=0.7013;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,54:97:99:1460,0,1164 1 225565015 rs3856154 T C 299.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.016;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.27;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon77:c.T12287C:p.L4096P;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856154;cosmic70=.;CLNALLELEID=389408;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.454;1000g2015aug_eur=0.659;1000g2015aug_afr=0.295;1000g2015aug_amr=0.7507;1000g2015aug_all=0.55631;esp6500siv2_all=0.5618;ExAC_ALL=0.5572;ExAC_AFR=0.3371;ExAC_AMR=0.7279;ExAC_EAS=0.7283;ExAC_FIN=0.6471;ExAC_NFE=0.6709;ExAC_OTH=0.6421;ExAC_SAS=0.4701;SIFT_score=0.33;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.07;MutationAssessor_pred=N;FATHMM_score=3.08;FATHMM_pred=T;phyloP100way_vertebrate=1.797;phyloP20way_mammalian=0.048;SiPhy_29way_logOdds=10.419;gerp++gt2=4.32;CADD=1.092;CADD_Phred=11.17;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,14:40:99:328,0,703 1 225565073 rs3856155 C T 264.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.412;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.337;SOR=0.657;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=DNAH14:NM_001373:exon77:c.C12345T:p.G4115G;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3856155;cosmic70=.;CLNALLELEID=389410;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.171;1000g2015aug_amr=0.7118;1000g2015aug_all=0.491813;esp6500siv2_all=0.4901;ExAC_ALL=0.5003;ExAC_AFR=0.2355;ExAC_AMR=0.7024;ExAC_EAS=0.7055;ExAC_FIN=0.6471;ExAC_NFE=0.6228;ExAC_OTH=0.5105;ExAC_SAS=0.4130;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,13:34:99:293,0,571 1 225569241 rs950210 T G 340.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.925;DP=34;ExcessHet=3.0103;FS=7.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.088;SOR=1.133;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=exonic;Gene=NM_001373;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DNAH14:NM_001373:exon79:c.T12731G:p.F4244C;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs950210;cosmic70=.;CLNALLELEID=389388;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.454;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.1936;1000g2015aug_amr=0.7435;1000g2015aug_all=0.528355;esp6500siv2_all=0.5320;ExAC_ALL=0.5483;ExAC_AFR=0.25;ExAC_AMR=0.7293;ExAC_EAS=0.7299;ExAC_FIN=0.6471;ExAC_NFE=0.6700;ExAC_OTH=0.6421;ExAC_SAS=0.4724;SIFT_score=0.148;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.7;MutationAssessor_pred=L;FATHMM_score=3.05;FATHMM_pred=T;phyloP100way_vertebrate=2.883;phyloP20way_mammalian=-0.092;SiPhy_29way_logOdds=2.921;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,14:34:99:369,0,513 1 225575588 rs6661263 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6661263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=0.91;1000g2015aug_amr=0.9928;1000g2015aug_all=0.97484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 225576058 rs6679430 T C 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.572;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-1.626;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430092.5,ENST00000439375.6,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6679430;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.454;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.1831;1000g2015aug_amr=0.7435;1000g2015aug_all=0.525958;esp6500siv2_all=0.5298;ExAC_ALL=0.5487;ExAC_AFR=0.2411;ExAC_AMR=0.7293;ExAC_EAS=0.7289;ExAC_FIN=0.625;ExAC_NFE=0.6710;ExAC_OTH=0.6421;ExAC_SAS=0.4750;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:108,0,152 1 225576311 rs10753405 A G 162.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=0.674;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445597.6,ENST00000430092.5,ENST00000439375.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.6123;1000g2015aug_afr=0.1641;1000g2015aug_amr=0.7133;1000g2015aug_all=0.490615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:191,0,24 1 225577648 rs12134158 C T 303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.917;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.37;ReadPosRankSum=1.439;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDNAH14;Func=intronic;Gene=NM_001373;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439375.6,ENST00000430092.5,ENST00000445597.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12134158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.6083;1000g2015aug_afr=0.1634;1000g2015aug_amr=0.7104;1000g2015aug_all=0.490815;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:84:332,0,84 1 225591435 rs4653634 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=intronic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272163.8,ENST00000338179.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9932;1000g2015aug_amr=1;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 225591893 rs10799305 G T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=intronic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272163.8,ENST00000338179.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 225597846 rs1011319 A G 150.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.21;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=-0.21;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=intronic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272163.8,ENST00000338179.6;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1011319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.8429;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.8602;1000g2015aug_all=0.722644;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:179,0,24 1 225598309 rs1538930 A C 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=intronic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338179.6,ENST00000272163.8;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1893\x3bName\x3e"399516:L1MC4a(LINE)";avsnp150=rs1538930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8562;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.27;1000g2015aug_amr=0.7493;1000g2015aug_all=0.582468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 225601647 rs3766928 C T 360.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.46;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=-1.154;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=intronic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000338179.6,ENST00000272163.8;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766928;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8552;1000g2015aug_sas=0.5061;1000g2015aug_eur=0.672;1000g2015aug_afr=0.2693;1000g2015aug_amr=0.7493;1000g2015aug_all=0.580871;esp6500siv2_all=.;ExAC_ALL=0.5864;ExAC_AFR=0.3557;ExAC_AMR=0.7194;ExAC_EAS=0.8687;ExAC_FIN=0.7126;ExAC_NFE=0.7104;ExAC_OTH=0.5867;ExAC_SAS=0.4979;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,18:60:99:389,0,1301 1 225607144 rs2230419 C T 223.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.016;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.106;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=exonic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LBR:NM_002296:exon5:c.G461A:p.S154N,LBR:NM_194442:exon5:c.G461A:p.S154N;Gencode=Name\x3eENST00000338179.6,ENST00000272163.8;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230419;cosmic70=.;CLNALLELEID=249738;CLNDN=Greenberg_dysplasia|not_specified;CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9633;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.8419;1000g2015aug_afr=0.3631;1000g2015aug_amr=0.8602;1000g2015aug_all=0.71226;esp6500siv2_all=0.7033;ExAC_ALL=0.8009;ExAC_AFR=0.4210;ExAC_AMR=0.8750;ExAC_EAS=0.9561;ExAC_FIN=0.8627;ExAC_NFE=0.8453;ExAC_OTH=0.8333;ExAC_SAS=0.6965;SIFT_score=0.561;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.904;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=-4.17;FATHMM_pred=D;phyloP100way_vertebrate=-0.167;phyloP20way_mammalian=-2.161;SiPhy_29way_logOdds=5.073;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,10:21:99:252,0,328 1 225609884 rs1056608 A G 1424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.941;DP=129;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.588;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=exonic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LBR:NM_002296:exon3:c.T261C:p.P87P,LBR:NM_194442:exon3:c.T261C:p.P87P;Gencode=Name\x3eENST00000338179.6,ENST00000272163.8;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1056608;cosmic70=.;CLNALLELEID=249740;CLNDN=Greenberg_dysplasia|not_specified;CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9018;1000g2015aug_sas=0.6401;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.3328;1000g2015aug_amr=0.8329;1000g2015aug_all=0.670927;esp6500siv2_all=0.6592;ExAC_ALL=0.7502;ExAC_AFR=0.3824;ExAC_AMR=0.8515;ExAC_EAS=0.8991;ExAC_FIN=0.7785;ExAC_NFE=0.7914;ExAC_OTH=0.7577;ExAC_SAS=0.6550;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,57:127:99:1453,0,1950 1 225611688 rs2230416 G A 504.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.34;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.089;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLBR;Func=exonic;Gene=NM_002296,NM_194442;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LBR:NM_002296:exon2:c.C90T:p.H30H,LBR:NM_194442:exon2:c.C90T:p.H30H;Gencode=Name\x3eENST00000338179.6,ENST00000272163.8;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230416;cosmic70=.;CLNALLELEID=279589;CLNDN=Greenberg_dysplasia;CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.007;1000g2015aug_afr=.;1000g2015aug_amr=0.0072;1000g2015aug_all=0.00339457;esp6500siv2_all=0.0095;ExAC_ALL=0.0098;ExAC_AFR=0.0013;ExAC_AMR=0.0029;ExAC_EAS=0;ExAC_FIN=0.0121;ExAC_NFE=0.0129;ExAC_OTH=0.0110;ExAC_SAS=0.0116;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,22:38:99:533,0,368 1 225840539 rs116481763 C G 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.444;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.412;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eENAH;Func=UTR5;Gene=NM_001008493,NM_018212;GeneDetail=NM_001008493:c.-147G>C\x3bNM_018212:c.-147G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366843.6,ENST00000366844.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs116481763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0308;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0245;1000g2015aug_all=0.0105831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:176,0,260 1 225865190 rs2840957 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018212,NM_001130440;GeneDetail=dist\x3e24345\x3bdist\x3e100325;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840957;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 225872035 rs2769686 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018212,NM_001130440;GeneDetail=dist\x3e31190\x3bdist\x3e93480;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2507\x3bName\x3e"400048:LTR31(LTR)";avsnp150=rs2769686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0585;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0318;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0259;1000g2015aug_all=0.0535144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 225935497 rs2615076 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018212,NM_001130440;GeneDetail=dist\x3e94652\x3bdist\x3e30018;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448264.1;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1817\x3bName\x3e"400221:AluJo(SINE)";avsnp150=rs2615076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5466;1000g2015aug_sas=0.8006;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.6441;1000g2015aug_all=0.674121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 225989805 rs12022324 C T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e11637\x3bdist\x3e7971;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e330\x3bName\x3e"400333:AluJr4(SINE)";avsnp150=rs12022324;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2103;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.0934;1000g2015aug_afr=0.0136;1000g2015aug_amr=0.1412;1000g2015aug_all=0.121805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 225989811 rs6694873 G A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e11643\x3bdist\x3e7965;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e330\x3bName\x3e"400333:AluJr4(SINE)";avsnp150=rs6694873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9734;1000g2015aug_eur=0.8052;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.8876;1000g2015aug_all=0.918131;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 225990958 rs10158721 G C 565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.828;DP=42;ExcessHet=3.0103;FS=5.692;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.371;SOR=1.888;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e12790\x3bdist\x3e6818;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.923751\x3bName\x3echr1:225937498;Repeat=.;avsnp150=rs10158721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.5159;1000g2015aug_all=0.51877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,16:42:99:594,0,1504 1 225990959 rs10158302 T C 565.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.828;DP=42;ExcessHet=3.0103;FS=5.692;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.397;SOR=1.888;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e12791\x3bdist\x3e6817;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.923751\x3bName\x3echr1:225937498;Repeat=.;avsnp150=rs10158302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.5159;1000g2015aug_all=0.51877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,16:42:99:594,0,1504 1 225991093 rs4653684 A G 945.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.345;DP=73;ExcessHet=3.0103;FS=1.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.27;SOR=0.43;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e12925\x3bdist\x3e6683;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.923751\x3bName\x3echr1:225937498;Repeat=.;avsnp150=rs4653684;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.2572;1000g2015aug_amr=0.5159;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,40:73:99:974,0,852 1 225991176 rs4653685 T G 599.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.804;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.28;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001130440,NM_001136018;GeneDetail=dist\x3e13008\x3bdist\x3e6600;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1243\x3bName\x3e"400337:AluSx(SINE)";avsnp150=rs4653685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6885;1000g2015aug_sas=0.7536;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.2579;1000g2015aug_amr=0.5159;1000g2015aug_all=0.51877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,22:34:99:628,0,365 1 226016633 rs3738047 G A 505.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.089;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-1.13;SOR=0.435;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHX1;Func=intronic;Gene=NM_000120,NM_001136018,NM_001291163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000614058.4,ENST00000366837.5,ENST00000272167.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738047;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.183;1000g2015aug_eur=0.0765;1000g2015aug_afr=0.003;1000g2015aug_amr=0.1124;1000g2015aug_all=0.120607;esp6500siv2_all=0.0613;ExAC_ALL=0.1361;ExAC_AFR=0.0215;ExAC_AMR=0.2361;ExAC_EAS=0.2972;ExAC_FIN=0.1844;ExAC_NFE=0.1073;ExAC_OTH=0.1822;ExAC_SAS=0.1807;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,19:33:99:534,0,452 1 226019653 rs1131873 G A 529.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.439;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.477;SOR=0.631;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHX1;Func=exonic;Gene=NM_000120,NM_001136018,NM_001291163;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=EPHX1:NM_000120:exon3:c.G357A:p.K119K,EPHX1:NM_001136018:exon3:c.G357A:p.K119K,EPHX1:NM_001291163:exon3:c.G357A:p.K119K;Gencode=Name\x3eENST00000614058.4,ENST00000366837.5,ENST00000272167.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131873;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.2536;1000g2015aug_eur=0.162;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.1484;1000g2015aug_all=0.191094;esp6500siv2_all=0.1445;ExAC_ALL=0.1601;ExAC_AFR=0.1308;ExAC_AMR=0.1061;ExAC_EAS=0.3059;ExAC_FIN=0.1053;ExAC_NFE=0.1442;ExAC_OTH=0.1391;ExAC_SAS=0.2272;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,21:40:99:558,0,526 1 226019774 rs2260863 G C 54.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.15;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=-0.21;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEPHX1;Func=intronic;Gene=NM_000120,NM_001136018,NM_001291163;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366837.5,ENST00000272167.9,ENST00000614058.4;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2260863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.7781;1000g2015aug_all=0.74361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,3:10:83:83,0,194 1 226036309 rs360063 A G 584.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.468;DP=37;ExcessHet=3.0103;FS=1.28;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-1.207;SOR=0.963;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6935;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.826;1000g2015aug_amr=0.5836;1000g2015aug_all=0.695088;esp6500siv2_all=0.6581;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,23:37:99:613,0,394 1 226036844 rs184852 T C 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs184852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.3991;1000g2015aug_all=0.419728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:72,0,71 1 226040687 rs111990 A C 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.02;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3343;1000g2015aug_sas=0.4407;1000g2015aug_eur=0.66;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.5533;1000g2015aug_all=0.42472;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 226050609 rs10158985 C A 1798.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.343;DP=137;ExcessHet=3.0103;FS=5.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-1.393;SOR=1.137;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7,ENST00000537914.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10158985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.135;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.0582;1000g2015aug_amr=0.1297;1000g2015aug_all=0.105032;esp6500siv2_all=0.1783;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:64,72:136:99:1827,0,1638 1 226054656 rs360084 G A 663.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360084;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8423;1000g2015aug_sas=0.909;1000g2015aug_eur=0.9165;1000g2015aug_afr=0.7867;1000g2015aug_amr=0.866;1000g2015aug_all=0.858826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:692,57,0 1 226054681 rs360085 T A 718.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360085;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9597;1000g2015aug_all=0.967652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:747,57,0 1 226057691 rs360088 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e532\x3bName\x3e"400469:MER104(DNA)";avsnp150=rs360088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.2352;1000g2015aug_amr=0.5519;1000g2015aug_all=0.420927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 226057816 rs168618 G A 62.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2401\x3bName\x3e"400470:AluSp(SINE)";avsnp150=rs168618;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.233;1000g2015aug_amr=0.5519;1000g2015aug_all=0.420327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:90,9,0 1 226058534 rs360090 C G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9908;1000g2015aug_eur=0.9662;1000g2015aug_afr=0.9327;1000g2015aug_amr=0.9611;1000g2015aug_all=0.968251;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 226064745 rs360093 G T 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.14;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.6297;1000g2015aug_all=0.492612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 226064846 rs360094 A G 966.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e521\x3bName\x3e"400480:MIRb(SINE)";avsnp150=rs360094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7087;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.6297;1000g2015aug_all=0.492812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:995,87,0 1 226065409 rs360095 G A 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360095;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.6581;1000g2015aug_afr=0.233;1000g2015aug_amr=0.5533;1000g2015aug_all=0.420927;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 226067799 rs360101 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360101;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.662;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.5533;1000g2015aug_all=0.421326;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 226067862 rs360102 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTMEM63A;Func=intronic;Gene=NM_014698;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366835.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360102;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.4376;1000g2015aug_eur=0.662;1000g2015aug_afr=0.2481;1000g2015aug_amr=0.5548;1000g2015aug_all=0.425519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226074563 rs360057 T G 2590.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.308;DP=174;ExcessHet=3.0103;FS=0.574;MLEAC=1;MLEAF=0.5;MQ=58.3;MQRankSum=-4.655;QD=14.89;ReadPosRankSum=0.053;SOR=0.628;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEFTY1;Func=exonic;Gene=NM_020997;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LEFTY1:NM_020997:exon4:c.A965C:p.D322A;Gencode=Name\x3eENST00000432920.2,ENST00000272134.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.901244\x3bName\x3echr1:225937423;Repeat=.;avsnp150=rs360057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.2526;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.1407;1000g2015aug_amr=0.3415;1000g2015aug_all=0.254792;esp6500siv2_all=0.3009;ExAC_ALL=0.3359;ExAC_AFR=0.1836;ExAC_AMR=0.4182;ExAC_EAS=0.1804;ExAC_FIN=0.4174;ExAC_NFE=0.3691;ExAC_OTH=0.3625;ExAC_SAS=0.2879;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.016;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.215;MutationAssessor_pred=N;FATHMM_score=-0.47;FATHMM_pred=T;phyloP100way_vertebrate=6.305;phyloP20way_mammalian=0.039;SiPhy_29way_logOdds=9.653;gerp++gt2=2.09;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,93:174:99:2619,0,2242 1 226075608 rs12753531 G A 701.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.763;DP=42;ExcessHet=3.0103;FS=2.729;MLEAC=1;MLEAF=0.5;MQ=48.36;MQRankSum=1.048;QD=16.71;ReadPosRankSum=-2.924;SOR=0.928;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEFTY1;Func=exonic;Gene=NM_020997;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LEFTY1:NM_020997:exon2:c.C375T:p.V125V;Gencode=Name\x3eENST00000272134.5,ENST00000432920.2;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.901244\x3bName\x3echr1:225937423;Repeat=.;avsnp150=rs12753531;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2674;1000g2015aug_afr=0.062;1000g2015aug_amr=0.2017;1000g2015aug_all=0.160343;esp6500siv2_all=.;ExAC_ALL=0.2802;ExAC_AFR=0.2044;ExAC_AMR=0.3898;ExAC_EAS=0.2358;ExAC_FIN=0.5085;ExAC_NFE=0.3899;ExAC_OTH=0.3028;ExAC_SAS=0.2034;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.164;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-1.61;FATHMM_pred=D;phyloP100way_vertebrate=0.266;phyloP20way_mammalian=-0.872;SiPhy_29way_logOdds=9.809;gerp++gt2=.;CADD=1.296;CADD_Phred=12.25;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,24:42:99:730,0,557 1 226076919 rs360058 G T 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.117;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=1.349;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_020997;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432920.2;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.901244\x3bName\x3echr1:225937423;Repeat=Score\x3e25\x3bName\x3e"400495:(GGAG)n(Simple_repeat)";avsnp150=rs360058;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1954;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.1377;1000g2015aug_amr=0.3401;1000g2015aug_all=0.247204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:120,0,136 1 226078392 rs3820238 T G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.253;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020997,NM_013328;GeneDetail=dist\x3e1546\x3bdist\x3e29185;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432920.2;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.3026;1000g2015aug_all=0.321486;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:110,0,34 1 226078403 rs3806259 C T 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.645;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.253;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020997,NM_013328;GeneDetail=dist\x3e1557\x3bdist\x3e29174;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432920.2;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3806259;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3502;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3211;1000g2015aug_afr=0.3321;1000g2015aug_amr=0.3026;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:110,0,34 1 226095605 rs360069 A T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020997,NM_013328;GeneDetail=dist\x3e18759\x3bdist\x3e11972;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000432920.2;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs360069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.7366;1000g2015aug_afr=0.7027;1000g2015aug_amr=0.7291;1000g2015aug_all=0.722444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226109284 rs56362902 G A 1603.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.075;DP=124;ExcessHet=3.0103;FS=3.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.858;SOR=1.017;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePYCR2;Func=exonic;Gene=NM_001271681,NM_013328;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PYCR2:NM_001271681:exon4:c.C379T:p.L127L,PYCR2:NM_013328:exon5:c.C601T:p.L201L;Gencode=Name\x3eENST00000343818.10,ENST00000612651.4,ENST00000432920.2,ENST00000612039.4;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56362902;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0346;1000g2015aug_all=0.0133786;esp6500siv2_all=0.0248;ExAC_ALL=0.0231;ExAC_AFR=0.0044;ExAC_AMR=0.0260;ExAC_EAS=0.0001;ExAC_FIN=0.0120;ExAC_NFE=0.0334;ExAC_OTH=0.0155;ExAC_SAS=0.0078;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,62:123:99:1632,0,1739 1 226127443 rs74578461 G C 1470.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.66;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.29;MQRankSum=-1.85;QD=17.72;ReadPosRankSum=0.34;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLEFTY2;Func=intronic;Gene=NM_001172425,NM_003240;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000420304.6,ENST00000616737.1,ENST00000366820.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=Score\x3e0.901244\x3bName\x3echr1:225886709;Repeat=.;avsnp150=rs74578461;cosmic70=.;CLNALLELEID=141811;CLNDN=Heterotaxia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0030853,MedGen:C3178805,Orphanet:ORPHA450|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.3602;1000g2015aug_all=0.291733;esp6500siv2_all=0.2532;ExAC_ALL=0.3440;ExAC_AFR=0.4022;ExAC_AMR=0.4908;ExAC_EAS=0.1792;ExAC_FIN=0.3856;ExAC_NFE=0.3586;ExAC_OTH=0.3625;ExAC_SAS=0.2562;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,50:83:99:1499,0,1061 1 226157700 rs6426091 G C 57.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003240,NM_152608;GeneDetail=dist\x3e28508\x3bdist\x3e12702;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e11460\x3bName\x3e"400704:LTR12C(LTR)";avsnp150=rs6426091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.638;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.6059;1000g2015aug_amr=0.5634;1000g2015aug_all=0.616813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:85,9,0 1 226167320 rs2755097 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003240,NM_152608;GeneDetail=dist\x3e38127\x3bdist\x3e3083;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e746\x3bName\x3e"400736:MIRb(SINE)";avsnp150=rs2755097;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.8722;1000g2015aug_eur=0.8926;1000g2015aug_afr=0.6626;1000g2015aug_amr=0.8847;1000g2015aug_all=0.839657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226179909 rs1885254 A G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDE2;Func=intronic;Gene=NM_152608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272091.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.8712;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.73;1000g2015aug_amr=0.8905;1000g2015aug_all=0.857628;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 226180026 rs72757014 C T 564.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.536;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.473;SOR=0.705;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDE2;Func=intronic;Gene=NM_152608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272091.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72757014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0409;1000g2015aug_eur=0.1153;1000g2015aug_afr=0.0053;1000g2015aug_amr=0.0375;1000g2015aug_all=0.0377396;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,21:57:99:593,0,988 1 226182800 rs4653702 A G 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.566;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSDE2;Func=intronic;Gene=NM_152608;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272091.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653702;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.177;1000g2015aug_amr=0.5303;1000g2015aug_all=0.321286;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,101 1 226213821 rs12145393 T G 146.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152608,NM_002107;GeneDetail=dist\x3e26755\x3bdist\x3e36587;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2642\x3bName\x3e"400847:AluY(SINE)";avsnp150=rs12145393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.832;1000g2015aug_afr=0.6293;1000g2015aug_amr=0.8415;1000g2015aug_all=0.669129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 1 226213840 rs56658020 T C 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152608,NM_002107;GeneDetail=dist\x3e26774\x3bdist\x3e36568;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2642\x3bName\x3e"400847:AluY(SINE)";avsnp150=rs56658020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0238;1000g2015aug_sas=0.0092;1000g2015aug_eur=0.0089;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.0014;1000g2015aug_all=0.0173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 1 226213845 rs181760858 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.431;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_152608,NM_002107;GeneDetail=dist\x3e26779\x3bdist\x3e36563;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2642\x3bName\x3e"400847:AluY(SINE)";avsnp150=rs181760858;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.004;1000g2015aug_sas=0.002;1000g2015aug_eur=0.006;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00978435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,78 1 226252232 rs2036870 C T 446.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eH3F3A,H3F3AP4;Func=ncRNA_intronic;Gene=NR_002315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366816.5,ENST00000366815.7,ENST00000366813.1,ENST00000366814.3;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2036870;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982628;esp6500siv2_all=0.9791;ExAC_ALL=0.9949;ExAC_AFR=0.9420;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9977;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:475,39,0 1 226253316 rs1849032 G T 281.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eH3F3A,H3F3AP4;Func=ncRNA_intronic;Gene=NR_002315;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366814.3,ENST00000366813.1,ENST00000366816.5,ENST00000366815.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1849032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=0.9402;1000g2015aug_amr=0.9914;1000g2015aug_all=0.982628;esp6500siv2_all=0.9793;ExAC_ALL=0.9948;ExAC_AFR=0.9425;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9976;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:310,27,0 1 226334578 rs1219666 G A 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD3;Func=intronic;Gene=NM_022735;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366812.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1219666;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 226334605 rs41303309 T C 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.834;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD3;Func=intronic;Gene=NM_022735;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366812.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2198\x3bName\x3e"401161:AluSg(SINE)";avsnp150=rs41303309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.0356;1000g2015aug_amr=0.1081;1000g2015aug_all=0.086262;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 226352498 rs2306120 T G 669.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.461;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.539;SOR=0.706;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD3;Func=exonic;Gene=NM_022735;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ACBD3:NM_022735:exon3:c.A561C:p.E187D;Gencode=Name\x3eENST00000366812.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2306120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4504;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.615;1000g2015aug_amr=0.6383;1000g2015aug_all=0.53115;esp6500siv2_all=0.5990;ExAC_ALL=0.5747;ExAC_AFR=0.5916;ExAC_AMR=0.7449;ExAC_EAS=0.4270;ExAC_FIN=0.6276;ExAC_NFE=0.5954;ExAC_OTH=0.5454;ExAC_SAS=0.4167;SIFT_score=0.1;SIFT_pred=T;Polyphen2_HDIV_score=0.612;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.237;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.354;MutationTaster_pred=P;MutationAssessor_score=2.61;MutationAssessor_pred=M;FATHMM_score=1.49;FATHMM_pred=T;phyloP100way_vertebrate=-0.048;phyloP20way_mammalian=0.045;SiPhy_29way_logOdds=19.101;gerp++gt2=.;CADD=1.770;CADD_Phred=14.81;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,27:71:99:698,0,1147 1 226371436 rs3008183 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACBD3;Func=intronic;Gene=NM_022735;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366812.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2182\x3bName\x3e"401250:AluSp(SINE)";avsnp150=rs3008183;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9992;1000g2015aug_amr=1;1000g2015aug_all=0.9998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 226411317 rs10915962 C T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.88;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001282402,NM_031944;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10915962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6994;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.6829;1000g2015aug_afr=0.531;1000g2015aug_amr=0.6455;1000g2015aug_all=0.618211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:108,0,118 1 226474132 rs10799347 G A 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.737;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.189;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLIN9;Func=exonic;Gene=NM_001270409,NM_001270410,NM_173083;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LIN9:NM_001270409:exon5:c.C369T:p.F123F,LIN9:NM_001270410:exon6:c.C270T:p.F90F,LIN9:NM_173083:exon6:c.C474T:p.F158F;Gencode=Name\x3eENST00000328205.9,ENST00000481685.1;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.745;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.6799;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.6657;1000g2015aug_all=0.707468;esp6500siv2_all=0.7046;ExAC_ALL=0.7070;ExAC_AFR=0.7368;ExAC_AMR=0.7957;ExAC_EAS=0.7391;ExAC_FIN=0.7747;ExAC_NFE=0.6824;ExAC_OTH=0.6797;ExAC_SAS=0.6831;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:177,0,181 1 226488826 rs11577454 A G 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.031;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.81;ReadPosRankSum=-0.195;SOR=0.586;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLIN9;Func=intronic;Gene=NM_001270409,NM_001270410,NM_173083;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000481685.1,ENST00000328205.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11577454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.149;1000g2015aug_amr=0.2709;1000g2015aug_all=0.237819;esp6500siv2_all=0.2269;ExAC_ALL=0.2770;ExAC_AFR=0.1517;ExAC_AMR=0.3109;ExAC_EAS=0.2353;ExAC_FIN=0.3130;ExAC_NFE=0.2806;ExAC_OTH=0.2696;ExAC_SAS=0.3225;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:127,0,265 1 226497419 rs79928746 G A 2765.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.31;DP=233;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.072;SOR=0.664;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLIN9;Func=UTR5;Gene=NM_001270410;GeneDetail=NM_001270410:c.-11997C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000328205.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs79928746;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.005;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.1153;1000g2015aug_afr=0.031;1000g2015aug_amr=0.1066;1000g2015aug_all=0.0798722;esp6500siv2_all=.;ExAC_ALL=0.1541;ExAC_AFR=0.0587;ExAC_AMR=0.1141;ExAC_EAS=0.0051;ExAC_FIN=0;ExAC_NFE=0.1494;ExAC_OTH=0.1462;ExAC_SAS=0.1686;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=-1.777;phyloP20way_mammalian=-0.372;SiPhy_29way_logOdds=7.172;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:128,105:233:99:2794,0,3522 1 226550437 rs1891108 G A 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.77;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8336;1000g2015aug_amr=0.6427;1000g2015aug_all=0.741414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 226550442 rs1891107 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1891107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8336;1000g2015aug_amr=0.6427;1000g2015aug_all=0.741414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 226550924 rs747657 G C 1599.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=1.298;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs747657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.4971;1000g2015aug_all=0.486621;esp6500siv2_all=0.6034;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1628,144,0 1 226551460 rs752309 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e254\x3bName\x3e"401732:MLT1O(LTR)";avsnp150=rs752309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8601;1000g2015aug_amr=0.6427;1000g2015aug_all=0.748403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 226551529 rs752307 C G 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs752307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5645;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.6441;1000g2015aug_all=0.782348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 226553485 rs118165556 A C 871.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.55;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"401735:AluSx(SINE)";avsnp150=rs118165556;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.5879;1000g2015aug_eur=0.5964;1000g2015aug_afr=0.5832;1000g2015aug_amr=0.4928;1000g2015aug_all=0.540136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:900,60,0 1 226553486 rs146042055 C A 871.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"401735:AluSx(SINE)";avsnp150=rs146042055;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.8865;1000g2015aug_eur=0.832;1000g2015aug_afr=0.8381;1000g2015aug_amr=0.6354;1000g2015aug_all=0.761981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:900,60,0 1 226553490 rs34917861 C A 871.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2131\x3bName\x3e"401735:AluSx(SINE)";avsnp150=rs34917861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5476;1000g2015aug_sas=0.8937;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.907;1000g2015aug_amr=0.647;1000g2015aug_all=0.783746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:900,60,0 1 226553934 rs2271349 A C 229.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e261\x3bName\x3e"401736:MIR3(SINE)";avsnp150=rs2271349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8858;1000g2015aug_amr=0.6441;1000g2015aug_all=0.755391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:258,21,0 1 226556094 rs1805400 T C 1971.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9501;1000g2015aug_amr=0.9971;1000g2015aug_all=0.986422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:2000,180,0 1 226557878 rs3219110 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3219110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1359;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.4692;1000g2015aug_afr=0.3071;1000g2015aug_amr=0.304;1000g2015aug_all=0.31869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 226564691 rs3219090 T C 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.41;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1557\x3bName\x3e"401753:L1M4(LINE)";avsnp150=rs3219090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eMelanoma;1000g2015aug_eas=0.2054;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.438;1000g2015aug_amr=0.4971;1000g2015aug_all=0.484425;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 226566726 rs907190 A C 1468.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs907190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5179;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.8328;1000g2015aug_amr=0.6427;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1497,132,0 1 226567172 rs2271345 A C 984.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.515;DP=92;ExcessHet=3.0103;FS=0.787;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.161;SOR=0.605;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2271345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.1521;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.0922;1000g2015aug_all=0.117812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,41:92:99:1013,0,1550 1 226568665 rs1805410 T C 126.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.998;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.55;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0317;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.0922;1000g2015aug_all=0.11861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:155,0,210 1 226570840 rs1805415 T C 2385.77 PASS AC=2;AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=0.992;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=exonic;Gene=NM_001618;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PARP1:NM_001618:exon8:c.A1056G:p.K352K;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5635;1000g2015aug_sas=0.8998;1000g2015aug_eur=0.8459;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.6455;1000g2015aug_all=0.789337;esp6500siv2_all=0.8601;ExAC_ALL=0.7939;ExAC_AFR=0.8975;ExAC_AMR=0.5514;ExAC_EAS=0.5649;ExAC_FIN=0.7633;ExAC_NFE=0.8262;ExAC_OTH=0.8216;ExAC_SAS=0.8983;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,74:74:99:2414,221,0 1 226576127 rs3219049 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.652;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e343\x3bName\x3e"401766:Tigger12c(DNA)";avsnp150=rs3219049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0308;1000g2015aug_sas=0.2454;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.0787;1000g2015aug_amr=0.0922;1000g2015aug_all=0.118411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 226578099 rs1805403 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=intronic;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1805403;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9315;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.9713;1000g2015aug_amr=0.8127;1000g2015aug_all=0.857628;esp6500siv2_all=0.8233;ExAC_ALL=0.8059;ExAC_AFR=0.9408;ExAC_AMR=0.8784;ExAC_EAS=0.9365;ExAC_FIN=0.8705;ExAC_NFE=0.7663;ExAC_OTH=0.7539;ExAC_SAS=0.7391;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 226578278 rs142376976 C A 871.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.387;DP=65;ExcessHet=3.0103;FS=2.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.046;SOR=0.68;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePARP1;Func=exonic;Gene=NM_001618;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PARP1:NM_001618:exon4:c.G450T:p.Q150H;Gencode=Name\x3eENST00000366794.9;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142376976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=0.0003;ExAC_ALL=0.0002;ExAC_AFR=9.703e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=0.017;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.926;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=D;MutationAssessor_score=1.855;MutationAssessor_pred=L;FATHMM_score=1.51;FATHMM_pred=T;phyloP100way_vertebrate=0.971;phyloP20way_mammalian=-0.450;SiPhy_29way_logOdds=10.914;gerp++gt2=.;CADD=3.768;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,32:65:99:900,0,911 1 226595948 rs147228961 G A 123.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.524;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001618;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147228961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:152,0,27 1 226626574 rs7527596 C T 82.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.26;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=1.122;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001618,NM_001003665;GeneDetail=dist\x3e30773\x3bdist\x3e109927;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1488;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.508;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.3329;1000g2015aug_all=0.427915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:111,0,174 1 226626684 rs7549215 G A 88.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.699;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.566;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001618,NM_001003665;GeneDetail=dist\x3e30883\x3bdist\x3e109817;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7549215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1498;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.508;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.3329;1000g2015aug_all=0.428315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:117,0,89 1 226737202 rs708741 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf95;Func=intronic;Gene=NM_001003665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366789.5,ENST00000366788.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.865;1000g2015aug_eur=0.8837;1000g2015aug_afr=0.941;1000g2015aug_amr=0.8775;1000g2015aug_all=0.907149;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226747662 rs10916008 A G 104.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf95;Func=intronic;Gene=NM_001003665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366788.7,ENST00000366789.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2442\x3bName\x3e"402161:AluY(SINE)";avsnp150=rs10916008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8353;1000g2015aug_sas=0.6626;1000g2015aug_eur=0.7992;1000g2015aug_afr=0.5643;1000g2015aug_amr=0.7709;1000g2015aug_all=0.713858;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 1 226769529 rs16846167 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf95;Func=intronic;Gene=NM_001003665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366789.5,ENST00000366788.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16846167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.1299;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.0793;1000g2015aug_all=0.126997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226785390 rs10916013 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf95;Func=intronic;Gene=NM_001003665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366788.7,ENST00000366789.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2629;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.2795;1000g2015aug_all=0.3125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226789446 rs731039 G A 168.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf95;Func=intronic;Gene=NM_001003665;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366788.7,ENST00000366789.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs731039;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2262;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2863;1000g2015aug_afr=0.1165;1000g2015aug_amr=0.1787;1000g2015aug_all=0.192692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:197,15,0 1 226799083 rs11577545 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001003665,NM_002221;GeneDetail=dist\x3e2168\x3bdist\x3e20308;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1658\x3bName\x3e"402239:MER61A(LTR)";avsnp150=rs11577545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2411;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.0991;1000g2015aug_amr=0.1239;1000g2015aug_all=0.181709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 226804113 rs12141110 G A 31.29 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001003665,NM_002221;GeneDetail=dist\x3e7198\x3bdist\x3e15278;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1793\x3bName\x3e"402248:MER61A(LTR)";avsnp150=rs12141110;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.2068;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.1282;1000g2015aug_all=0.189297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:59,9,0 1 226835214 rs1144835 A G 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.225;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.126;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITPKB;Func=intronic;Gene=NM_002221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272117.7,ENST00000429204.5;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e194\x3bName\x3e"402300:MIR3(SINE)";avsnp150=rs1144835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7758;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.5893;1000g2015aug_all=0.673922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:307,0,479 1 226836590 rs2298169 A G 224.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.072;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=0.509;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITPKB;Func=intronic;Gene=NM_002221;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000429204.5,ENST00000272117.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298169;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7589;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.5091;1000g2015aug_amr=0.5519;1000g2015aug_all=0.545327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,10:32:99:253,0,671 1 226923264 rs708775 G A 912.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.264;DP=76;ExcessHet=3.0103;FS=1.872;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.458;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITPKB;Func=exonic;Gene=NM_002221;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ITPKB:NM_002221:exon2:c.C1896T:p.A632A;Gencode=Name\x3eENST00000429204.5,ENST00000366784.1,ENST00000272117.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708775;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2639;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.2428;1000g2015aug_amr=0.317;1000g2015aug_all=0.28155;esp6500siv2_all=0.2809;ExAC_ALL=0.2858;ExAC_AFR=0.2527;ExAC_AMR=0.2894;ExAC_EAS=0.2665;ExAC_FIN=0.2780;ExAC_NFE=0.2866;ExAC_OTH=0.3143;ExAC_SAS=0.3265;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,34:76:99:941,0,1111 1 226923505 rs708776 G T 3205.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=0.714;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITPKB;Func=exonic;Gene=NM_002221;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ITPKB:NM_002221:exon2:c.C1655A:p.P552Q;Gencode=Name\x3eENST00000429204.5,ENST00000366784.1,ENST00000272117.7;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.9553;1000g2015aug_all=0.979832;esp6500siv2_all=0.9588;ExAC_ALL=0.9646;ExAC_AFR=0.9919;ExAC_AMR=0.9793;ExAC_EAS=0.9999;ExAC_FIN=0.9525;ExAC_NFE=0.9481;ExAC_OTH=0.9635;ExAC_SAS=0.9907;SIFT_score=0.583;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.484;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.895;MutationAssessor_pred=N;FATHMM_score=1.98;FATHMM_pred=T;phyloP100way_vertebrate=-0.492;phyloP20way_mammalian=0.117;SiPhy_29way_logOdds=2.079;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:3234,291,0 1 226923938 rs6667260 A C 1455.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.439;DP=110;ExcessHet=3.0103;FS=3.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.057;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eITPKB;Func=exonic;Gene=NM_002221;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ITPKB:NM_002221:exon2:c.T1222G:p.S408A;Gencode=Name\x3eENST00000429204.5,ENST00000272117.7,ENST00000366784.1;cytoBand=1q42.12;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667260;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.5258;1000g2015aug_afr=0.6067;1000g2015aug_amr=0.6599;1000g2015aug_all=0.610423;esp6500siv2_all=0.5142;ExAC_ALL=0.5305;ExAC_AFR=0.5845;ExAC_AMR=0.7358;ExAC_EAS=0.6685;ExAC_FIN=0.4347;ExAC_NFE=0.4720;ExAC_OTH=0.5254;ExAC_SAS=0.5623;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.983;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.445;MutationAssessor_pred=N;FATHMM_score=2.07;FATHMM_pred=T;phyloP100way_vertebrate=-0.836;phyloP20way_mammalian=-0.014;SiPhy_29way_logOdds=3.041;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,54:110:99:1484,0,1600 1 226990261 rs6426541 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002221,NM_012486;GeneDetail=dist\x3e63385\x3bdist\x3e68012;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6161;1000g2015aug_sas=0.6411;1000g2015aug_eur=0.6074;1000g2015aug_afr=0.6157;1000g2015aug_amr=0.6124;1000g2015aug_all=0.61861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 226999183 rs6660716 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002221,NM_012486;GeneDetail=dist\x3e72307\x3bdist\x3e59090;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2788;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.164;1000g2015aug_afr=0.236;1000g2015aug_amr=0.2089;1000g2015aug_all=0.209864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 227069677 rs11405 T C 2270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.787;DP=206;ExcessHet=3.0103;FS=0.511;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.136;SOR=0.652;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=exonic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;Gencode=Name\x3eENST00000422240.6,ENST00000626989.2,ENST00000366782.5,ENST00000366783.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11405;cosmic70=.;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.7176;1000g2015aug_all=0.735623;esp6500siv2_all=0.7931;ExAC_ALL=0.7603;ExAC_AFR=0.8168;ExAC_AMR=0.7404;ExAC_EAS=0.5626;ExAC_FIN=0.7863;ExAC_NFE=0.7801;ExAC_OTH=0.7841;ExAC_SAS=0.7508;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:117,89:206:99:2299,0,3152 1 227069737 rs6759 C T 1524.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.796;DP=130;ExcessHet=3.0103;FS=3.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.459;SOR=0.423;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=exonic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;Gencode=Name\x3eENST00000366783.7,ENST00000366782.5,ENST00000422240.6,ENST00000626989.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6759;cosmic70=.;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.4827;1000g2015aug_all=0.443291;esp6500siv2_all=0.4895;ExAC_ALL=0.4995;ExAC_AFR=0.3905;ExAC_AMR=0.5145;ExAC_EAS=0.4064;ExAC_FIN=0.5332;ExAC_NFE=0.5425;ExAC_OTH=0.5434;ExAC_SAS=0.4169;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,59:130:99:1553,0,2166 1 227071364 rs1295643 G A 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.862;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.601;SOR=0.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366782.5,ENST00000626989.2,ENST00000422240.6,ENST00000366783.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1295643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.4827;1000g2015aug_all=0.443291;esp6500siv2_all=0.4885;ExAC_ALL=0.5016;ExAC_AFR=0.3994;ExAC_AMR=0.5155;ExAC_EAS=0.4166;ExAC_FIN=0.5358;ExAC_NFE=0.5436;ExAC_OTH=0.5534;ExAC_SAS=0.4242;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,18:43:99:487,0,847 1 227071377 rs1295644 T C 552.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.89;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.464;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366783.7,ENST00000422240.6,ENST00000626989.2,ENST00000366782.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1295644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4911;1000g2015aug_sas=0.682;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.6254;1000g2015aug_all=0.624401;esp6500siv2_all=0.7117;ExAC_ALL=0.7242;ExAC_AFR=0.5961;ExAC_AMR=0.6792;ExAC_EAS=0.5277;ExAC_FIN=0.7835;ExAC_NFE=0.7776;ExAC_OTH=0.7596;ExAC_SAS=0.6901;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,19:48:99:581,0,906 1 227071525 rs1046240 C T 1620.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.141;DP=153;ExcessHet=3.0103;FS=3.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.931;SOR=0.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=exonic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;Gencode=Name\x3eENST00000366783.7,ENST00000626989.2,ENST00000422240.6,ENST00000366782.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1046240;cosmic70=.;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3859;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.4827;1000g2015aug_all=0.443291;esp6500siv2_all=0.4902;ExAC_ALL=0.4991;ExAC_AFR=0.3877;ExAC_AMR=0.5158;ExAC_EAS=0.4064;ExAC_FIN=0.5331;ExAC_NFE=0.5418;ExAC_OTH=0.5452;ExAC_SAS=0.4170;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,69:152:99:1649,0,2100 1 227073410 rs2236910 G C 1294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.792;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.381;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366783.7,ENST00000422240.6,ENST00000626989.2,ENST00000472139.2,ENST00000366782.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5427;1000g2015aug_sas=0.7495;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.8313;1000g2015aug_amr=0.7176;1000g2015aug_all=0.735623;esp6500siv2_all=0.7929;ExAC_ALL=0.7605;ExAC_AFR=0.8163;ExAC_AMR=0.7394;ExAC_EAS=0.5616;ExAC_FIN=0.7868;ExAC_NFE=0.7806;ExAC_OTH=0.7812;ExAC_SAS=0.7514;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,50:96:99:1323,0,1258 1 227078955 rs2802267 T C 630.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.257;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.41;SOR=0.709;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366782.5,ENST00000472139.2,ENST00000626989.2,ENST00000422240.6,ENST00000366783.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5565;1000g2015aug_sas=0.7505;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.7104;1000g2015aug_all=0.722843;esp6500siv2_all=0.7801;ExAC_ALL=0.7643;ExAC_AFR=0.7748;ExAC_AMR=0.7454;ExAC_EAS=0.5929;ExAC_FIN=0.7959;ExAC_NFE=0.7860;ExAC_OTH=0.7900;ExAC_SAS=0.7593;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,23:55:99:659,0,885 1 227079222 rs2236915 C G 624.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.344;DP=41;ExcessHet=3.0103;FS=1.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.13;SOR=0.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366783.7,ENST00000626989.2,ENST00000422240.6,ENST00000366782.5,ENST00000472139.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3889;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.4798;1000g2015aug_all=0.441893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,21:41:99:653,0,644 1 227081622 rs10753428 A G 100.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.211;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.709;SOR=1.112;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366782.5,ENST00000472139.2,ENST00000626989.2,ENST00000422240.6,ENST00000366783.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10753428;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4931;1000g2015aug_sas=0.7055;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.7988;1000g2015aug_amr=0.6556;1000g2015aug_all=0.70008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:129,0,215 1 227081850 rs2855562 G A 92.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.301;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=0.345;SOR=0.602;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=intronic;Gene=NM_000447,NM_012486;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000472139.2,ENST00000366782.5,ENST00000422240.6,ENST00000626989.2,ENST00000366783.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2855562;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.6297;1000g2015aug_all=0.574081;esp6500siv2_all=0.5378;ExAC_ALL=0.5757;ExAC_AFR=0.4945;ExAC_AMR=0.6755;ExAC_EAS=0.6536;ExAC_FIN=0.6065;ExAC_NFE=0.5668;ExAC_OTH=0.6067;ExAC_SAS=0.5375;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,5:18:99:121,0,421 1 227083550 rs8383 C T 122.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.272;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePSEN2;Func=UTR3;Gene=NM_000447,NM_012486;GeneDetail=NM_000447:c.*270C>T\x3bNM_012486:c.*270C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366783.7,ENST00000626989.2,ENST00000366782.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs8383;cosmic70=.;CLNALLELEID=281058;CLNDN=Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.4841;1000g2015aug_all=0.450879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:99:151,0,101 1 227165484 rs1888826 T C 190.84 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.85;ReadPosRankSum=-0.887;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366778.5,ENST00000366777.3,ENST00000366779.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1888826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.875;1000g2015aug_sas=0.8129;1000g2015aug_eur=0.8748;1000g2015aug_afr=0.8888;1000g2015aug_amr=0.866;1000g2015aug_all=0.865216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,7:8:18:219,0,18 1 227170543 rs2297413 C G 516.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.612;DP=40;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.557;SOR=1.14;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366778.5,ENST00000366777.3,ENST00000366779.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.1575;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.1067;1000g2015aug_amr=0.2305;1000g2015aug_all=0.198283;esp6500siv2_all=0.2032;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,20:40:99:545,0,572 1 227171737 rs1574184 G T 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.738;DP=31;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=0.439;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366778.5,ENST00000366779.5,ENST00000366777.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1574184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.3877;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.2767;1000g2015aug_all=0.28115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,19:31:99:699,0,565 1 227171739 rs1574185 G T 670.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.239;DP=31;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=0.415;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366779.5,ENST00000366777.3,ENST00000366778.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1574185;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3056;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.3569;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.2478;1000g2015aug_all=0.280152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,19:31:99:699,0,565 1 227172290 rs12593 C T 1438.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.557;DP=118;ExcessHet=3.0103;FS=5.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.334;SOR=0.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=exonic;Gene=NM_020247;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COQ8A:NM_020247:exon12:c.C1440T:p.F480F;Gencode=Name\x3eENST00000366779.5,ENST00000366777.3,ENST00000366778.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12593;cosmic70=.;CLNALLELEID=133723;CLNDN=Coenzyme_Q10_deficiency,_primary,_4|not_specified|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.1649;1000g2015aug_amr=0.2695;1000g2015aug_all=0.238618;esp6500siv2_all=0.3737;ExAC_ALL=0.3525;ExAC_AFR=0.1979;ExAC_AMR=0.2542;ExAC_EAS=0.1806;ExAC_FIN=0.3743;ExAC_NFE=0.4507;ExAC_OTH=0.3819;ExAC_SAS=0.2013;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,56:118:99:1467,0,1724 1 227172903 rs2297415 G A 429.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.17;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.765;SOR=0.627;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366778.5,ENST00000366779.5,ENST00000366777.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1587;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.2731;1000g2015aug_amr=0.2853;1000g2015aug_all=0.269569;esp6500siv2_all=0.4139;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,16:36:99:458,0,585 1 227172935 rs2297416 C G 711.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.84;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.358;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366779.5,ENST00000366777.3,ENST00000366778.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297416;cosmic70=.;CLNALLELEID=508767;CLNDN=Coenzyme_Q10_deficiency,_primary,_4;CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.1922;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.2572;1000g2015aug_amr=0.2839;1000g2015aug_all=0.265176;esp6500siv2_all=0.3986;ExAC_ALL=0.3631;ExAC_AFR=0.2702;ExAC_AMR=0.2663;ExAC_EAS=0.1744;ExAC_FIN=0.3742;ExAC_NFE=0.4565;ExAC_OTH=0.3870;ExAC_SAS=0.2053;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,24:52:99:740,0,775 1 227174145 rs7552783 T C 1175.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.633;DP=100;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.991;SOR=0.665;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=intronic;Gene=NM_020247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366778.5,ENST00000366777.3,ENST00000366779.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7552783;cosmic70=.;CLNALLELEID=279683;CLNDN=Coenzyme_Q10_deficiency,_primary,_4|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.497;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.3256;1000g2015aug_all=0.351637;esp6500siv2_all=0.4757;ExAC_ALL=0.4155;ExAC_AFR=0.4223;ExAC_AMR=0.2877;ExAC_EAS=0.2249;ExAC_FIN=0.3962;ExAC_NFE=0.4979;ExAC_OTH=0.4226;ExAC_SAS=0.2745;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,45:99:99:1204,0,1399 1 227174210 rs3738725 T C 1790.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.613;DP=157;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.562;SOR=0.871;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eADCK3;Func=exonic;Gene=NM_020247;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COQ8A:NM_020247:exon15:c.T1716C:p.S572S;Gencode=Name\x3eENST00000366779.5,ENST00000366777.3,ENST00000366778.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738725;cosmic70=.;CLNALLELEID=133724;CLNDN=Coenzyme_Q10_deficiency,_primary,_4|not_specified|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2133;1000g2015aug_sas=0.2679;1000g2015aug_eur=0.494;1000g2015aug_afr=0.2882;1000g2015aug_amr=0.3127;1000g2015aug_all=0.313898;esp6500siv2_all=0.4422;ExAC_ALL=0.4054;ExAC_AFR=0.3121;ExAC_AMR=0.2817;ExAC_EAS=0.2270;ExAC_FIN=0.3956;ExAC_NFE=0.4977;ExAC_OTH=0.4183;ExAC_SAS=0.2741;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:81,76:157:99:1819,0,2274 1 227181838 rs3795449 T G 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.992;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=UTR3;Gene=NM_003607,NM_014826;GeneDetail=NM_003607:c.*131A>C\x3bNM_014826:c.*131A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.2839;1000g2015aug_all=0.26897;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,185 1 227181923 rs3795451 C T 359.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.792;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.499;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=UTR3;Gene=NM_003607,NM_014826;GeneDetail=NM_003607:c.*46G>A\x3bNM_014826:c.*46G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000366769.7,ENST00000334218.9,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"402960:(GAGCGA)n(Simple_repeat)";avsnp150=rs3795451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2123;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.27;1000g2015aug_amr=0.2853;1000g2015aug_all=0.285144;esp6500siv2_all=0.3943;ExAC_ALL=0.3552;ExAC_AFR=0.2892;ExAC_AMR=0.2888;ExAC_EAS=0.2248;ExAC_FIN=0.3667;ExAC_NFE=0.4744;ExAC_OTH=0.4078;ExAC_SAS=0.2385;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,14:38:99:388,0,706 1 227182033 rs2802269 G A 986.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.391;DP=108;ExcessHet=3.0103;FS=3.651;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.214;SOR=0.395;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=exonic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDC42BPA:NM_014826:exon35:c.C4853T:p.A1618V,CDC42BPA:NM_003607:exon36:c.C5096T:p.A1699V;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2802269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8869;1000g2015aug_sas=0.8139;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.9259;1000g2015aug_amr=0.8718;1000g2015aug_all=0.878195;esp6500siv2_all=0.9033;ExAC_ALL=0.8883;ExAC_AFR=0.9138;ExAC_AMR=0.8917;ExAC_EAS=0.8916;ExAC_FIN=0.9341;ExAC_NFE=0.8973;ExAC_OTH=0.9091;ExAC_SAS=0.8189;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.107;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.41;MutationAssessor_pred=N;FATHMM_score=-0.18;FATHMM_pred=T;phyloP100way_vertebrate=2.039;phyloP20way_mammalian=0.168;SiPhy_29way_logOdds=5.596;gerp++gt2=.;CADD=1.547;CADD_Phred=13.57;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,47:108:99:1015,0,1680 1 227182575 rs1045247 A G 1799.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=exonic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDC42BPA:NM_014826:exon34:c.T4734C:p.S1578S,CDC42BPA:NM_003607:exon35:c.T4977C:p.S1659S;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1045247;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8274;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.826;1000g2015aug_afr=0.9803;1000g2015aug_amr=0.8372;1000g2015aug_all=0.826877;esp6500siv2_all=0.8555;ExAC_ALL=0.7983;ExAC_AFR=0.9505;ExAC_AMR=0.8087;ExAC_EAS=0.8427;ExAC_FIN=0.7385;ExAC_NFE=0.8115;ExAC_OTH=0.7874;ExAC_SAS=0.6433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1828,168,0 1 227182754 rs2297419 G A 601.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.743;DP=30;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.06;ReadPosRankSum=-0.088;SOR=0.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297419;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.2207;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.1657;1000g2015aug_all=0.141374;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,20:30:99:630,0,293 1 227182957 rs1343745 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366764.6,ENST00000366767.7,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1343745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.2197;1000g2015aug_afr=0.0651;1000g2015aug_amr=0.1614;1000g2015aug_all=0.139377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 227192579 rs2297418 A C 447.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.953;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.32;ReadPosRankSum=-1.606;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297418;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1567;1000g2015aug_sas=0.1912;1000g2015aug_eur=0.4433;1000g2015aug_afr=0.267;1000g2015aug_amr=0.2824;1000g2015aug_all=0.267572;esp6500siv2_all=.;ExAC_ALL=0.3633;ExAC_AFR=0.2823;ExAC_AMR=0.2657;ExAC_EAS=0.1736;ExAC_FIN=0.3736;ExAC_NFE=0.4558;ExAC_OTH=0.3809;ExAC_SAS=0.2061;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,14:21:99:476,0,229 1 227204557 rs17600747 T C 351.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.249;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-2.017;SOR=0.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17600747;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1508;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.2237;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.1657;1000g2015aug_all=0.147364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:380,0,222 1 227210820 rs11580229 G A 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.073;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.714;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e367\x3bName\x3e"403004:MIR(SINE)";avsnp150=rs11580229;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.3404;1000g2015aug_amr=0.2939;1000g2015aug_all=0.285743;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:164,0,415 1 227210888 rs11578479 A T 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.42;DP=32;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.403;SOR=1.034;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e367\x3bName\x3e"403004:MIR(SINE)";avsnp150=rs11578479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1478;1000g2015aug_sas=0.1933;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.3411;1000g2015aug_amr=0.2939;1000g2015aug_all=0.286142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,13:32:99:311,0,476 1 227213968 rs7535826 G T 698.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.146;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.8;SOR=0.801;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7535826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1518;1000g2015aug_sas=0.1953;1000g2015aug_eur=0.4423;1000g2015aug_afr=0.3782;1000g2015aug_amr=0.2983;1000g2015aug_all=0.298722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,25:45:99:727,0,560 1 227216462 . T G 1563.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.396;DP=87;ExcessHet=3.0103;FS=4.223;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-0.004;SOR=1.082;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=exonic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDC42BPA:NM_014826:exon28:c.A3980C:p.K1327T,CDC42BPA:NM_003607:exon29:c.A4223C:p.K1408T;Gencode=Name\x3eENST00000366766.6,ENST00000334218.9,ENST00000366769.7,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.235;SIFT_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=1.545;MutationAssessor_pred=L;FATHMM_score=3.39;FATHMM_pred=T;phyloP100way_vertebrate=5.055;phyloP20way_mammalian=1.011;SiPhy_29way_logOdds=15.961;gerp++gt2=5.53;CADD=1.980;CADD_Phred=16.08;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,54:87:99:1592,0,901 1 227216662 rs1929861 T C 2078.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=0.826;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=exonic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CDC42BPA:NM_014826:exon28:c.A3780G:p.K1260K,CDC42BPA:NM_003607:exon29:c.A4023G:p.K1341K;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1929861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4038;1000g2015aug_sas=0.2311;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.4179;1000g2015aug_all=0.404353;esp6500siv2_all=0.4606;ExAC_ALL=0.4318;ExAC_AFR=0.4633;ExAC_AMR=0.4718;ExAC_EAS=0.4441;ExAC_FIN=0.4368;ExAC_NFE=0.4599;ExAC_OTH=0.4349;ExAC_SAS=0.2618;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2107,186,0 1 227216775 rs1929860 C T 1048.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.306;DP=74;ExcessHet=3.0103;FS=0.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.07;SOR=0.515;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=exonic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CDC42BPA:NM_014826:exon28:c.G3667A:p.V1223I,CDC42BPA:NM_003607:exon29:c.G3910A:p.V1304I;Gencode=Name\x3eENST00000366766.6,ENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1929860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.1892;1000g2015aug_eur=0.332;1000g2015aug_afr=0.1884;1000g2015aug_amr=0.33;1000g2015aug_all=0.280152;esp6500siv2_all=0.2824;ExAC_ALL=0.3177;ExAC_AFR=0.2096;ExAC_AMR=0.4015;ExAC_EAS=0.4421;ExAC_FIN=0.3621;ExAC_NFE=0.3261;ExAC_OTH=0.3128;ExAC_SAS=0.2108;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.08;MutationAssessor_pred=N;FATHMM_score=3.6;FATHMM_pred=T;phyloP100way_vertebrate=0.262;phyloP20way_mammalian=0.119;SiPhy_29way_logOdds=8.523;gerp++gt2=4.18;CADD=1.126;CADD_Phred=11.36;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,36:74:99:1077,0,963 1 227219314 rs1319103 A G 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1319103;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.2209;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.4349;1000g2015aug_amr=0.2695;1000g2015aug_all=0.307508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 227221123 rs11582863 G A 637.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.769;DP=54;ExcessHet=3.0103;FS=2.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.317;SOR=0.901;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11582863;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1558;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.2038;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.1484;1000g2015aug_all=0.147764;esp6500siv2_all=0.1722;ExAC_ALL=0.1753;ExAC_AFR=0.1248;ExAC_AMR=0.1539;ExAC_EAS=0.1685;ExAC_FIN=0.1584;ExAC_NFE=0.2011;ExAC_OTH=0.1611;ExAC_SAS=0.1296;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,28:54:99:666,0,707 1 227222963 rs16846855 G A 199.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.54;ReadPosRankSum=0.366;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16846855;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.0879;1000g2015aug_all=0.124201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:21:228,0,21 1 227228037 rs10495270 A C 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.1;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366769.7,ENST00000334218.9,ENST00000366764.6,ENST00000366767.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495270;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0507188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:179,0,179 1 227235455 rs73089765 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73089765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.0879;1000g2015aug_all=0.124002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:53:149,0,53 1 227239562 rs34111989 G C 1660.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.617;DP=132;ExcessHet=3.0103;FS=5.361;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.839;SOR=0.414;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34111989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1548;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.1135;1000g2015aug_amr=0.1484;1000g2015aug_all=0.147364;esp6500siv2_all=0.1763;ExAC_ALL=0.1739;ExAC_AFR=0.1231;ExAC_AMR=0.1522;ExAC_EAS=0.1686;ExAC_FIN=0.1588;ExAC_NFE=0.1989;ExAC_OTH=0.1659;ExAC_SAS=0.1281;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,71:131:99:1689,0,1596 1 227239739 rs55865118 T A 642.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.192;DP=30;ExcessHet=3.0103;FS=2.483;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.43;ReadPosRankSum=-1.193;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334218.9,ENST00000366769.7,ENST00000366767.7,ENST00000366764.6,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55865118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.0879;1000g2015aug_all=0.124002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,17:30:99:671,0,753 1 227239746 rs10799381 G T 607.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.338;DP=28;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=-1.579;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7173;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.6715;1000g2015aug_all=0.658347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,16:28:99:636,0,717 1 227247016 rs10495266 G C 990.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.817;DP=72;ExcessHet=3.0103;FS=0.902;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.805;SOR=0.854;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495266;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.0879;1000g2015aug_all=0.124002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,40:72:99:1019,0,824 1 227259884 rs10495263 G A 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.146;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=-0.342;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10495263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1312;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0509185;esp6500siv2_all=0.1116;ExAC_ALL=0.0956;ExAC_AFR=0.0473;ExAC_AMR=0.0594;ExAC_EAS=0.0003;ExAC_FIN=0.0745;ExAC_NFE=0.1335;ExAC_OTH=0.1169;ExAC_SAS=0.0530;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,6:15:99:125,0,263 1 227268488 rs1929853 T G 215.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.44;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.209;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1929853;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2634;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2695;1000g2015aug_all=0.258187;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:244,0,282 1 227299978 rs2458521 C T 679.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.003;DP=44;ExcessHet=3.0103;FS=9.088;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.107;SOR=2.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334218.9,ENST00000366769.7,ENST00000366767.7,ENST00000366764.6,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2458521;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.1033;1000g2015aug_eur=0.2624;1000g2015aug_afr=0.3714;1000g2015aug_amr=0.2695;1000g2015aug_all=0.257987;esp6500siv2_all=0.2904;ExAC_ALL=0.2624;ExAC_AFR=0.3495;ExAC_AMR=0.3176;ExAC_EAS=0.2727;ExAC_FIN=0.2783;ExAC_NFE=0.2620;ExAC_OTH=0.2758;ExAC_SAS=0.1433;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,25:44:99:708,0,457 1 227300277 rs488104 G A 261.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=1.148;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366764.6,ENST00000366767.7,ENST00000366769.7,ENST00000334218.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs488104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7192;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.6218;1000g2015aug_amr=0.6715;1000g2015aug_all=0.658746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:290,0,170 1 227330488 rs10916094 G T 239.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2314\x3bName\x3e"403206:AluSg4(SINE)";avsnp150=rs10916094;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7609;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9274;1000g2015aug_afr=0.9554;1000g2015aug_amr=0.8516;1000g2015aug_all=0.902955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:268,21,0 1 227330759 rs12139502 A G 820.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.827;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-1.04;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366767.7,ENST00000366764.6,ENST00000366769.7,ENST00000334218.9,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12139502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.8967;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.7305;1000g2015aug_all=0.742013;esp6500siv2_all=0.7095;ExAC_ALL=0.7444;ExAC_AFR=0.6568;ExAC_AMR=0.6886;ExAC_EAS=0.7340;ExAC_FIN=0.7247;ExAC_NFE=0.7432;ExAC_OTH=0.7336;ExAC_SAS=0.8715;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,36:80:99:849,0,1230 1 227333141 rs60079575 T C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334218.9,ENST00000366769.7,ENST00000366767.7,ENST00000366764.6,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs60079575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.0908;1000g2015aug_all=0.1248;esp6500siv2_all=0.1792;ExAC_ALL=0.1172;ExAC_AFR=0.2553;ExAC_AMR=0.0710;ExAC_EAS=0.0003;ExAC_FIN=0.0763;ExAC_NFE=0.1367;ExAC_OTH=0.1314;ExAC_SAS=0.0517;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:53:149,0,53 1 227348126 rs11800062 T C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.126;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"403238:(ATAG)n(Simple_repeat)";avsnp150=rs11800062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0419;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.0893;1000g2015aug_all=0.127995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 227381373 rs3768436 G T 97.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.763;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-0.057;SOR=1.236;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366769.7,ENST00000334218.9,ENST00000366764.6,ENST00000366767.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.7403;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.6051;1000g2015aug_amr=0.6383;1000g2015aug_all=0.669529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,5:16:99:126,0,297 1 227387361 rs3768434 A G 237.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000334218.9,ENST00000366769.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768434;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.8519;1000g2015aug_afr=0.9168;1000g2015aug_amr=0.7291;1000g2015aug_all=0.799321;esp6500siv2_all=0.8702;ExAC_ALL=0.8029;ExAC_AFR=0.8989;ExAC_AMR=0.6178;ExAC_EAS=0.6154;ExAC_FIN=0.7620;ExAC_NFE=0.8493;ExAC_OTH=0.8102;ExAC_SAS=0.7982;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:266,24,0 1 227452040 rs4375224 G A 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=0;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917057\x3bName\x3echr3:132675247;Repeat=.;avsnp150=rs4375224;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.8516;1000g2015aug_all=0.854832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:64:64,0,69 1 227452700 rs1969230 C T 231.53 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.175;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=1.069;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334218.9,ENST00000366769.7,ENST00000366764.6,ENST00000366767.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917057\x3bName\x3echr3:132675247;Repeat=.;avsnp150=rs1969230;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.3602;1000g2015aug_all=0.32528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,12:13:3:258,0,3 1 227452751 rs1533283 C T 261.28 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.429;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=-0.475;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000366769.7,ENST00000334218.9,ENST00000366767.7,ENST00000366764.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917057\x3bName\x3echr3:132675247;Repeat=.;avsnp150=rs1533283;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.2597;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.3602;1000g2015aug_all=0.32528;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,10:11:9:289,0,9 1 227452844 rs2670470 T C 57.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366764.6,ENST00000366767.7,ENST00000366769.7,ENST00000334218.9,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2670470;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.8681;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.8949;1000g2015aug_amr=0.8516;1000g2015aug_all=0.858626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:85,9,0 1 227481755 rs4406605 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000334218.9,ENST00000366769.7,ENST00000366764.6,ENST00000366767.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2515\x3bName\x3e"403528:AluY(SINE)";avsnp150=rs4406605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.3602;1000g2015aug_all=0.323482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 227481763 rs4406606 A G 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366766.6,ENST00000334218.9,ENST00000366769.7,ENST00000366764.6,ENST00000366767.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2515\x3bName\x3e"403528:AluY(SINE)";avsnp150=rs4406606;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.3602;1000g2015aug_all=0.323482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:75:81,0,75 1 227504613 rs4653822 G C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCDC42BPA;Func=intronic;Gene=NM_003607,NM_014826;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334218.9,ENST00000366769.7,ENST00000366764.6,ENST00000366767.7,ENST00000366766.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4653822;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8681;1000g2015aug_sas=0.8691;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.8623;1000g2015aug_amr=0.8516;1000g2015aug_all=0.849641;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 227525183 rs3014256 G C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e19357\x3bdist\x3e226037;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3014256;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8006;1000g2015aug_sas=0.7638;1000g2015aug_eur=0.7903;1000g2015aug_afr=0.733;1000g2015aug_amr=0.7622;1000g2015aug_all=0.768171;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 227597415 rs10916141 C T 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e91589\x3bdist\x3e153805;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445817.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2711\x3bName\x3e"403827:Ricksha_c(DNA)";avsnp150=rs10916141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4454;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5626;1000g2015aug_afr=0.5431;1000g2015aug_amr=0.4971;1000g2015aug_all=0.528155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 227597419 rs3000779 G A 51.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e91593\x3bdist\x3e153801;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445817.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2711\x3bName\x3e"403827:Ricksha_c(DNA)";avsnp150=rs3000779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.7863;1000g2015aug_eur=0.8738;1000g2015aug_afr=0.736;1000g2015aug_amr=0.7493;1000g2015aug_all=0.790136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:79,6,0 1 227599079 rs3000790 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e93253\x3bdist\x3e152141;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445817.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3000790;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.3329;1000g2015aug_all=0.33726;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 227599174 rs3000791 C T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e93348\x3bdist\x3e152046;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000445817.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3000791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8095;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.8469;1000g2015aug_afr=0.73;1000g2015aug_amr=0.7406;1000g2015aug_all=0.759585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 227621935 rs12405551 G C 59.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.226;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.457;SOR=0.582;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e116109\x3bdist\x3e129285;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12405551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1369;1000g2015aug_sas=0.183;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.1412;1000g2015aug_all=0.147364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,4:15:88:88,0,312 1 227680783 rs2814075 T C 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.364;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=56.59;MQRankSum=-2.433;QD=5.77;ReadPosRankSum=-0.189;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e174957\x3bdist\x3e70437;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs2814075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:109,0,224 1 227680835 rs2814074 C T 79.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.791;DP=16;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=53.75;MQRankSum=-1.025;QD=4.99;ReadPosRankSum=0;SOR=1.19;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175009\x3bdist\x3e70385;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs2814074;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,6:16:99:108,0,264 1 227680868 rs28734771 T C 67.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.673;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.41;MQRankSum=-0.128;QD=4.52;ReadPosRankSum=-0.245;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175042\x3bdist\x3e70352;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs28734771;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.5703;1000g2015aug_amr=0.6916;1000g2015aug_all=0.635783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,5:15:96:96,0,270 1 227681475 rs4653844 T C 272.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.329;DP=30;ExcessHet=3.0103;FS=5.859;MLEAC=1;MLEAF=0.5;MQ=49.69;MQRankSum=-0.761;QD=9.09;ReadPosRankSum=1.271;SOR=1.773;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175649\x3bdist\x3e69745;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs4653844;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.754;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.6104;1000g2015aug_amr=0.719;1000g2015aug_all=0.680112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,11:30:99:301,0,517 1 227681573 rs75312173 A C 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.136;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.85;MQRankSum=-0.747;QD=12.8;ReadPosRankSum=-1.232;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175747\x3bdist\x3e69647;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs75312173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:297,0,2257 1 227681574 rs79920655 G C 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.359;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.85;MQRankSum=-0.747;QD=12.8;ReadPosRankSum=-1.377;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175748\x3bdist\x3e69646;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs79920655;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:297,0,2257 1 227681581 rs76425427 G A 268.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.538;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.24;MQRankSum=-0.489;QD=14.15;ReadPosRankSum=-1.565;SOR=0.394;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175755\x3bdist\x3e69639;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs76425427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:297,0,2257 1 227681585 rs74748450 C T 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.043;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.24;MQRankSum=-0.489;QD=12.09;ReadPosRankSum=-1.903;SOR=0.394;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175759\x3bdist\x3e69635;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs74748450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:258,0,2185 1 227681586 rs75421617 C T 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.043;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.24;MQRankSum=-0.489;QD=12.09;ReadPosRankSum=-2.028;SOR=0.394;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e175760\x3bdist\x3e69634;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227502113;Repeat=.;avsnp150=rs75421617;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,7:19:99:258,0,2185 1 227695868 rs3104202 G A 142.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e190042\x3bdist\x3e55352;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.917769\x3bName\x3echr1:227485989;Repeat=.;avsnp150=rs3104202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6071;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.4016;1000g2015aug_afr=0.702;1000g2015aug_amr=0.4323;1000g2015aug_all=0.562101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:171,15,0 1 227728897 rs72632830 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_003607,NM_178549;GeneDetail=dist\x3e223071\x3bdist\x3e22323;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72632830;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.2137;1000g2015aug_afr=0.174;1000g2015aug_amr=0.2968;1000g2015aug_all=0.279353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 227787102 rs2132366 C T 361.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF678;Func=intronic;Gene=NM_178549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343776.9,ENST00000608949.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.928738\x3bName\x3echr10:58715459;Repeat=.;avsnp150=rs2132366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.2935;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.1354;1000g2015aug_amr=0.2939;1000g2015aug_all=0.267372;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:390,36,0 1 227820072 rs10799433 G A 348.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF678;Func=intronic;Gene=NM_178549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608949.5,ENST00000343776.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.907001\x3bName\x3echr12:123548417;Repeat=Score\x3e5081\x3bName\x3e"404139:HERV17-int(LTR)";avsnp150=rs10799433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5516;1000g2015aug_sas=0.4867;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.6346;1000g2015aug_amr=0.4236;1000g2015aug_all=0.513179;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:377,33,0 1 227826788 rs68186506 C T 1679.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=0.909;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF678;Func=intronic;Gene=NM_178549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608949.5,ENST00000343776.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23051\x3bName\x3e"404146:HERVH48-int(LTR)";avsnp150=rs68186506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.2167;1000g2015aug_afr=0.1505;1000g2015aug_amr=0.2983;1000g2015aug_all=0.273163;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1708,147,0 1 227834400 rs6426468 G A 712.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.94;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF678;Func=intronic;Gene=NM_178549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343776.9,ENST00000608949.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8214;1000g2015aug_sas=0.7658;1000g2015aug_eur=0.5736;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.719;1000g2015aug_all=0.772564;esp6500siv2_all=0.6752;ExAC_ALL=0.6584;ExAC_AFR=0.8755;ExAC_AMR=0.7399;ExAC_EAS=0.8130;ExAC_FIN=0.5900;ExAC_NFE=0.5840;ExAC_OTH=0.6486;ExAC_SAS=0.7180;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:741,63,0 1 227838514 rs67511833 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZNF678;Func=intronic;Gene=NM_178549;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000343776.9,ENST00000608949.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4368\x3bName\x3e"404165:L1MA9(LINE)";avsnp150=rs67511833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.3057;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1339;1000g2015aug_amr=0.2968;1000g2015aug_all=0.269768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 227894232 rs80325207 C A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036753,NM_001323933;GeneDetail=dist\x3e8824\x3bdist\x3e21637;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80325207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0476;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1093;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.062;1000g2015aug_all=0.0636981;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 227920061 rs1060295 T G 904.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130093,JMJD4;Func=UTR3;Gene=NM_001161465,NM_023007;GeneDetail=NM_001161465:c.*32A>C\x3bNM_023007:c.*32A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366760.5,ENST00000615711.4,ENST00000620518.4,ENST00000366758.7,ENST00000438896.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1060295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7907;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.7104;1000g2015aug_all=0.748802;esp6500siv2_all=0.6822;ExAC_ALL=0.6346;ExAC_AFR=0.9071;ExAC_AMR=0.7347;ExAC_EAS=0.7776;ExAC_FIN=0.5647;ExAC_NFE=0.5660;ExAC_OTH=0.6278;ExAC_SAS=0.6257;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:933,72,0 1 227920186 rs35575794 G A 1092.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.198;DP=85;ExcessHet=3.0103;FS=3.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.36;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJMJD4,LOC100130093;Func=exonic;Gene=NM_001161465,NM_023007;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=JMJD4:NM_001161465:exon6:c.C1251T:p.D417D,JMJD4:NM_023007:exon6:c.C1299T:p.D433D;Gencode=Name\x3eENST00000615711.4,ENST00000366760.5,ENST00000366758.7,ENST00000620518.4,ENST00000438896.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35575794;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0195687;esp6500siv2_all=0.0488;ExAC_ALL=0.0429;ExAC_AFR=0.0092;ExAC_AMR=0.0255;ExAC_EAS=0.0001;ExAC_FIN=0.0271;ExAC_NFE=0.0643;ExAC_OTH=0.0479;ExAC_SAS=0.0190;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,43:85:99:1121,0,1200 1 227920357 rs4837 C T 2086.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.249;DP=181;ExcessHet=3.0103;FS=1.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.752;SOR=0.787;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130093,JMJD4;Func=exonic;Gene=NM_001161465,NM_023007;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=JMJD4:NM_001161465:exon6:c.G1080A:p.S360S,JMJD4:NM_023007:exon6:c.G1128A:p.S376S;Gencode=Name\x3eENST00000615711.4,ENST00000366760.5,ENST00000620518.4,ENST00000366758.7,ENST00000438896.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4837;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1094;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.1157;1000g2015aug_amr=0.0706;1000g2015aug_all=0.0930511;esp6500siv2_all=0.1117;ExAC_ALL=0.0992;ExAC_AFR=0.1158;ExAC_AMR=0.0559;ExAC_EAS=0.0359;ExAC_FIN=0.0897;ExAC_NFE=0.1129;ExAC_OTH=0.1247;ExAC_SAS=0.0999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:100,81:181:99:2115,0,2449 1 227920665 rs41270159 A G 1703.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.782;DP=124;ExcessHet=3.0103;FS=2.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.266;SOR=0.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJMJD4,LOC100130093;Func=exonic;Gene=NM_001161465,NM_023007;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=JMJD4:NM_001161465:exon5:c.T1024C:p.F342L,JMJD4:NM_023007:exon5:c.T1024C:p.F342L;Gencode=Name\x3eENST00000366760.5,ENST00000615711.4,ENST00000620518.4,ENST00000366758.7,ENST00000438896.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270159;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.003;1000g2015aug_amr=0.036;1000g2015aug_all=0.0197684;esp6500siv2_all=0.0283;ExAC_ALL=0.0312;ExAC_AFR=0.0065;ExAC_AMR=0.0227;ExAC_EAS=0.0002;ExAC_FIN=0.0670;ExAC_NFE=0.0430;ExAC_OTH=0.0382;ExAC_SAS=0.0067;SIFT_score=0.517;SIFT_pred=T;Polyphen2_HDIV_score=0.113;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=2.285;MutationAssessor_pred=M;FATHMM_score=-0.42;FATHMM_pred=T;phyloP100way_vertebrate=8.409;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=10.062;gerp++gt2=3.82;CADD=2.328;CADD_Phred=18.35;ALLELE_END GT:AD:DP:GQ:PL 0/1:58,65:123:99:1732,0,1571 1 227920925 rs2273936 C G 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.241;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJMJD4,LOC100130093;Func=intronic;Gene=NM_001161465,NM_001323930,NM_001323932,NM_001323933,NM_023007;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438896.2,ENST00000620518.4,ENST00000366758.7,ENST00000366760.5,ENST00000615711.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0690895;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,189 1 227920962 rs41270161 G A 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.068;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130093,JMJD4;Func=intronic;Gene=NM_001161465,NM_001323930,NM_001323932,NM_001323933,NM_023007;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000438896.2,ENST00000620518.4,ENST00000366758.7,ENST00000366760.5,ENST00000615711.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41270161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1084;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0688898;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,154 1 227922918 rs2295994 A C 1343.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.922;DP=106;ExcessHet=3.0103;FS=1.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.789;SOR=0.888;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJMJD4,SNAP47;Func=exonic;Gene=NM_001161465,NM_023007;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=JMJD4:NM_001161465:exon1:c.T195G:p.D65E,JMJD4:NM_023007:exon1:c.T195G:p.D65E;Gencode=Name\x3eENST00000615711.4,ENST00000366760.5,ENST00000366758.7,ENST00000620518.4,ENST00000438896.2,ENST00000366759.8,ENST00000315781.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.4914;1000g2015aug_all=0.415335;esp6500siv2_all=0.3791;ExAC_ALL=0.4632;ExAC_AFR=0.5199;ExAC_AMR=0.5042;ExAC_EAS=0.4551;ExAC_FIN=0.5058;ExAC_NFE=0.4732;ExAC_OTH=0.4667;ExAC_SAS=0.3896;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.276;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.61;FATHMM_pred=T;phyloP100way_vertebrate=-0.883;phyloP20way_mammalian=-1.247;SiPhy_29way_logOdds=4.394;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,47:106:99:1372,0,1712 1 227923081 rs7419238 G A 4258.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.187;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eJMJD4,SNAP47;Func=exonic;Gene=NM_001161465,NM_023007;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=JMJD4:NM_001161465:exon1:c.C32T:p.A11V,JMJD4:NM_023007:exon1:c.C32T:p.A11V;Gencode=Name\x3eENST00000615711.4,ENST00000366760.5,ENST00000366758.7,ENST00000438896.2,ENST00000366759.8,ENST00000315781.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7419238;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=0.9999;ExAC_ALL=0.9998;ExAC_AFR=1;ExAC_AMR=0.9995;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=2.12;FATHMM_pred=T;phyloP100way_vertebrate=-0.027;phyloP20way_mammalian=0.142;SiPhy_29way_logOdds=5.777;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,131:131:99:4287,392,0 1 227935280 rs2236361 C T 1683.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=4.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_001323935,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366760.5,ENST00000617596.4,ENST00000366759.8,ENST00000315781.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236361;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7887;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.7104;1000g2015aug_all=0.748003;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1712,132,0 1 227935355 rs2236360 T C 3246.77 PASS AC=2;AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_001323935,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366759.8,ENST00000315781.9,ENST00000366760.5,ENST00000617596.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236360;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7808;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.9531;1000g2015aug_amr=0.7089;1000g2015aug_all=0.746206;esp6500siv2_all=0.6795;ExAC_ALL=0.6345;ExAC_AFR=0.9052;ExAC_AMR=0.7363;ExAC_EAS=0.7693;ExAC_FIN=0.5636;ExAC_NFE=0.5640;ExAC_OTH=0.6272;ExAC_SAS=0.6244;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,98:98:99:3275,294,0 1 227935444 rs2236359 A G 1726.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.091;DP=138;ExcessHet=3.0103;FS=1.333;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.648;SOR=0.767;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=exonic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_001323935,NM_053052;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SNAP47:NM_001323930:exon2:c.A7G:p.R3G,SNAP47:NM_001323934:exon2:c.A7G:p.R3G,SNAP47:NM_001323935:exon2:c.A142G:p.R48G,SNAP47:NM_053052:exon2:c.A142G:p.R48G,SNAP47:NM_001323931:exon3:c.A7G:p.R3G,SNAP47:NM_001323932:exon3:c.A7G:p.R3G,SNAP47:NM_001323933:exon4:c.A7G:p.R3G;Gencode=Name\x3eENST00000366759.8,ENST00000315781.9,ENST00000617596.4,ENST00000366760.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.3579;1000g2015aug_eur=0.3996;1000g2015aug_afr=0.4826;1000g2015aug_amr=0.4928;1000g2015aug_all=0.419329;esp6500siv2_all=0.4219;ExAC_ALL=0.4018;ExAC_AFR=0.4499;ExAC_AMR=0.4232;ExAC_EAS=0.3844;ExAC_FIN=0.3944;ExAC_NFE=0.4041;ExAC_OTH=0.4007;ExAC_SAS=0.3586;SIFT_score=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.439;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=0.59;MutationAssessor_pred=N;FATHMM_score=2.31;FATHMM_pred=T;phyloP100way_vertebrate=2.572;phyloP20way_mammalian=0.042;SiPhy_29way_logOdds=4.557;gerp++gt2=.;CADD=0.991;CADD_Phred=10.61;ALLELE_END GT:AD:DP:GQ:PL 0/1:75,63:138:99:1755,0,2123 1 227954677 rs17851681 C T 1325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.704;DP=122;ExcessHet=3.0103;FS=5.637;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.179;SOR=0.587;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=exonic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_001323935,NM_053052;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SNAP47:NM_001323930:exon4:c.C1006T:p.R336C,SNAP47:NM_001323934:exon4:c.C1006T:p.R336C,SNAP47:NM_001323935:exon4:c.C1141T:p.R381C,SNAP47:NM_053052:exon4:c.C1141T:p.R381C,SNAP47:NM_001323931:exon5:c.C1006T:p.R336C,SNAP47:NM_001323932:exon5:c.C1006T:p.R336C,SNAP47:NM_001323933:exon6:c.C1006T:p.R336C;Gencode=Name\x3eENST00000617596.4,ENST00000366760.5,ENST00000315781.9,ENST00000366759.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17851681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0486;1000g2015aug_sas=0.1063;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0634;1000g2015aug_all=0.0625;esp6500siv2_all=0.0811;ExAC_ALL=0.0904;ExAC_AFR=0.0229;ExAC_AMR=0.0534;ExAC_EAS=0.0376;ExAC_FIN=0.0896;ExAC_NFE=0.1117;ExAC_OTH=0.1183;ExAC_SAS=0.0992;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.518;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.14;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=-0.270;phyloP20way_mammalian=-1.009;SiPhy_29way_logOdds=4.564;gerp++gt2=.;CADD=1.982;CADD_Phred=16.10;ALLELE_END GT:AD:DP:GQ:PL 0/1:71,51:122:99:1354,0,1950 1 227958225 rs41305134 T C 148.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.158;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.552;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_001323935,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366760.5,ENST00000617596.4,ENST00000315781.9,ENST00000366759.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41305134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0288;1000g2015aug_sas=0.135;1000g2015aug_eur=0.0924;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0854633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:177,0,219 1 227967938 rs10916207 G A 514.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366759.8,ENST00000315781.9,ENST00000366760.5,ENST00000617596.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.503;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.5548;1000g2015aug_all=0.46865;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:543,39,0 1 227968033 rs9786978 T C 1687.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000617596.4,ENST00000366760.5,ENST00000366759.8,ENST00000315781.9;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9786978;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.9516;1000g2015aug_amr=0.7118;1000g2015aug_all=0.749002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1716,144,0 1 227968107 rs10799448 G A 3086.77 PASS AC=2;AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.354;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSNAP47;Func=intronic;Gene=NM_001323930,NM_001323931,NM_001323932,NM_001323933,NM_001323934,NM_053052;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000315781.9,ENST00000366759.8,ENST00000366760.5,ENST00000617596.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799448;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3452;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.497;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.549;1000g2015aug_all=0.465455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,95:95:99:3115,285,0 1 227986939 rs12091509 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001323933,NM_183062;GeneDetail=dist\x3e18007\x3bdist\x3e16479;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3301\x3bName\x3e"404371:MER49(LTR)";avsnp150=rs12091509;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.5399;1000g2015aug_eur=0.4652;1000g2015aug_afr=0.9077;1000g2015aug_amr=0.6282;1000g2015aug_all=0.676917;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 228003676 rs75865065 T C 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.202;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.869;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRSS38;Func=intronic;Gene=NM_183062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366757.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75865065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1458;1000g2015aug_sas=0.1503;1000g2015aug_eur=0.0487;1000g2015aug_afr=0.2912;1000g2015aug_amr=0.0562;1000g2015aug_all=0.153155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:318,0,165 1 228003967 rs12121588 G A 415.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.024;DP=33;ExcessHet=3.0103;FS=8.08;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-1.134;SOR=1.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRSS38;Func=intronic;Gene=NM_183062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366757.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12121588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.1801;1000g2015aug_all=0.191693;esp6500siv2_all=0.2269;ExAC_ALL=0.2126;ExAC_AFR=0.2136;ExAC_AMR=0.1611;ExAC_EAS=0.1146;ExAC_FIN=0.2680;ExAC_NFE=0.2343;ExAC_OTH=0.2009;ExAC_SAS=0.1889;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:444,0,428 1 228004140 rs10047088 T C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePRSS38;Func=intronic;Gene=NM_183062;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366757.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10047088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9354;1000g2015aug_afr=0.9992;1000g2015aug_amr=0.9654;1000g2015aug_all=0.980032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 228086834 rs6657894 C G 38.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.15;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.15;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_183062,NM_003395;GeneDetail=dist\x3e52663\x3bdist\x3e22331;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6657894;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4345;1000g2015aug_sas=0.3354;1000g2015aug_eur=0.1292;1000g2015aug_afr=0.7224;1000g2015aug_amr=0.2507;1000g2015aug_all=0.404353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:67,0,30 1 228112776 rs945701 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT9A;Func=intronic;Gene=NM_003395;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272164.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.9881;1000g2015aug_afr=1;1000g2015aug_amr=0.9928;1000g2015aug_all=0.996605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228129499 rs149753040 G A 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.207;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.619;SOR=2.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT9A;Func=intronic;Gene=NM_003395;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000272164.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs149753040;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0109;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00439297;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:215,0,180 1 228198046 rs708115 C T 43.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT3A;Func=intronic;Gene=NM_033131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284523.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs708115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6052;1000g2015aug_sas=0.6196;1000g2015aug_eur=0.5706;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.4481;1000g2015aug_all=0.51278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 1 228210179 rs3094911 A G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT3A;Func=intronic;Gene=NM_033131;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284523.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3094911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7133;1000g2015aug_sas=0.7301;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.6324;1000g2015aug_amr=0.5836;1000g2015aug_all=0.664137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 228247351 rs752107 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWNT3A;Func=UTR3;Gene=NM_033131;GeneDetail=NM_033131:c.*185T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284523.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs752107;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.7996;1000g2015aug_eur=0.6909;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.7248;1000g2015aug_all=0.777157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 228294300 rs12564763 T C 1638.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=3.467;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_001321284,NM_181441,NM_181454,NM_181455,NM_181456,NM_181462,NM_181463,NM_181464,NM_181465;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12564763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6081;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.4107;1000g2015aug_amr=0.5994;1000g2015aug_all=0.580272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1667,132,0 1 228334277 rs10916268 C T 148.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGUK1;Func=intronic;Gene=NM_000858,NM_001159390,NM_001159391,NM_001242839,NM_001242840;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366716.1,ENST00000366723.5,ENST00000366718.5,ENST00000366726.5,ENST00000312726.8,ENST00000391865.7,ENST00000366728.6,ENST00000366722.5,ENST00000366721.5,ENST00000366730.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916268;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5873;1000g2015aug_sas=0.7157;1000g2015aug_eur=0.6272;1000g2015aug_afr=0.4145;1000g2015aug_amr=0.5893;1000g2015aug_all=0.57508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:177,15,0 1 228338316 rs12740965 C G 46.14 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.38;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJC2;Func=intronic;Gene=NM_020435;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366714.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12740965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.9264;1000g2015aug_eur=0.9632;1000g2015aug_afr=0.6664;1000g2015aug_amr=0.8775;1000g2015aug_all=0.824081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:82,9,0 1 228340653 rs10916269 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGJC2;Func=intronic;Gene=NM_020435;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366714.2;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916269;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.7806;1000g2015aug_amr=0.9741;1000g2015aug_all=0.938299;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 228352160 rs4348717 T C 2493.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=-0.975;DP=79;ExcessHet=3.0103;FS=3.294;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.57;ReadPosRankSum=1.338;SOR=0.47;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIBA57-AS1;Func=ncRNA_exonic;Gene=NR_103539,NR_103540;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000496552.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4348717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.9899;1000g2015aug_all=0.963059;esp6500siv2_all=.;ExAC_ALL=0.9938;ExAC_AFR=0.9034;ExAC_AMR=0.9864;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=1;ExAC_SAS=0.9997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,78:79:99:2522,195,0 1 228353651 rs55873785 G C 605.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIBA57;Func=exonic;Gene=NM_001010867;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IBA57:NM_001010867:exon1:c.G134C:p.G45A;Gencode=Name\x3eENST00000366711.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55873785;cosmic70=.;CLNALLELEID=364874;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.1536;1000g2015aug_amr=0.3357;1000g2015aug_all=0.35603;esp6500siv2_all=.;ExAC_ALL=0.4891;ExAC_AFR=0.2824;ExAC_AMR=0.4611;ExAC_EAS=0.4676;ExAC_FIN=0.5;ExAC_NFE=0.4435;ExAC_OTH=0.4492;ExAC_SAS=0.5177;SIFT_score=0.101;SIFT_pred=T;Polyphen2_HDIV_score=0.063;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.026;Polyphen2_HVAR_pred=B;LRT_score=0.281;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.525;MutationAssessor_pred=L;FATHMM_score=0.87;FATHMM_pred=T;phyloP100way_vertebrate=0.406;phyloP20way_mammalian=-0.001;SiPhy_29way_logOdds=8.684;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:634,48,0 1 228362213 rs12141488 C G 189.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIBA57;Func=intronic;Gene=NM_001010867;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366711.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12141488;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9841;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.995;1000g2015aug_afr=0.7753;1000g2015aug_amr=0.9697;1000g2015aug_all=0.93111;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:218,18,0 1 228391591 rs12022917 G C 779.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.334;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.824;SOR=0.488;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf145;Func=ncRNA_exonic;Gene=NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295012.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e921\x3bName\x3e"405067:L1MA4(LINE)";avsnp150=rs12022917;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.379;1000g2015aug_sas=0.5491;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.3184;1000g2015aug_all=0.34345;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:808,0,1014 1 228391808 rs11800309 G T 2296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.635;DP=155;ExcessHet=3.0103;FS=0.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.357;SOR=0.753;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf145;Func=ncRNA_exonic;Gene=NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295012.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1101\x3bName\x3e"405068:MER8(DNA)";avsnp150=rs11800309;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.254;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.2493;1000g2015aug_all=0.176518;esp6500siv2_all=.;ExAC_ALL=0.2219;ExAC_AFR=0.0612;ExAC_AMR=0.2047;ExAC_EAS=0.2418;ExAC_FIN=0.3440;ExAC_NFE=0.2547;ExAC_OTH=0.2212;ExAC_SAS=0.1902;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=0.365;phyloP20way_mammalian=0.368;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=7.360;CADD_Phred=34;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,84:154:99:2325,0,1938 1 228398951 rs12726781 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf145,OBSCN;Func=ncRNA_intronic;Gene=NR_073154,NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000295012.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12726781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.6441;1000g2015aug_all=0.720248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228398996 rs12745416 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf145,OBSCN;Func=ncRNA_intronic;Gene=NR_073154,NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000295012.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12745416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.6427;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228399482 rs11804508 C G 819.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.908;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=30.36;ReadPosRankSum=-0.964;SOR=0.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf145,OBSCN;Func=ncRNA_intronic;Gene=NR_073154,NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295012.5,ENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11804508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8313;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.6427;1000g2015aug_all=0.721046;esp6500siv2_all=0.6342;ExAC_ALL=0.6570;ExAC_AFR=0.6684;ExAC_AMR=0.6065;ExAC_EAS=0.8257;ExAC_FIN=0.6696;ExAC_NFE=0.6207;ExAC_OTH=0.6824;ExAC_SAS=0.7884;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,26:27:71:848,71,0 1 228399766 rs55971985 T C 996.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.536;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN,C1orf145;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;Gencode=Name\x3eENST00000284548.15,ENST00000295012.5,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55971985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8027;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.6441;1000g2015aug_all=0.726238;esp6500siv2_all=0.6409;ExAC_ALL=0.6937;ExAC_AFR=0.6981;ExAC_AMR=0.6408;ExAC_EAS=0.8338;ExAC_FIN=0.7538;ExAC_NFE=0.6233;ExAC_OTH=0.6301;ExAC_SAS=0.7563;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1025,90,0 1 228400646 rs3121192 T C 2720.77 PASS AC=2;AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.157;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN,C1orf145;Func=ncRNA_intronic;Gene=NR_073154,NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000295012.5,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.6427;1000g2015aug_all=0.719649;esp6500siv2_all=.;ExAC_ALL=0.7079;ExAC_AFR=0.6791;ExAC_AMR=0.5774;ExAC_EAS=0.8367;ExAC_FIN=0.6795;ExAC_NFE=0.6202;ExAC_OTH=0.6349;ExAC_SAS=0.7570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,62:62:99:2749,187,0 1 228400653 rs3121191 A T 2539.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=2.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN,C1orf145;Func=ncRNA_intronic;Gene=NR_073154,NR_073155;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000295012.5,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.6427;1000g2015aug_all=0.719649;esp6500siv2_all=.;ExAC_ALL=0.7135;ExAC_AFR=0.6820;ExAC_AMR=0.5844;ExAC_EAS=0.8368;ExAC_FIN=0.6868;ExAC_NFE=0.6247;ExAC_OTH=0.6316;ExAC_SAS=0.7628;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2568,174,0 1 228401587 rs3121189 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.5994;1000g2015aug_all=0.587859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228401588 rs3121188 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6012;1000g2015aug_sas=0.7434;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.5994;1000g2015aug_all=0.58766;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228401632 rs2989563 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2989563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.6441;1000g2015aug_all=0.720048;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228402047 rs1620111 A G 1840.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=1.453;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1620111;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.6808;1000g2015aug_amr=0.6427;1000g2015aug_all=0.719848;esp6500siv2_all=0.6305;ExAC_ALL=0.6544;ExAC_AFR=0.6583;ExAC_AMR=0.6030;ExAC_EAS=0.8132;ExAC_FIN=0.6609;ExAC_NFE=0.6132;ExAC_OTH=0.6633;ExAC_SAS=0.7672;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:1869,171,0 1 228402121 rs1771487 A G 846.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1771487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8244;1000g2015aug_sas=0.8037;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.6815;1000g2015aug_amr=0.6427;1000g2015aug_all=0.719649;esp6500siv2_all=0.6257;ExAC_ALL=0.6539;ExAC_AFR=0.6577;ExAC_AMR=0.6032;ExAC_EAS=0.8131;ExAC_FIN=0.6616;ExAC_NFE=0.6122;ExAC_OTH=0.6633;ExAC_SAS=0.7671;SIFT_score=0.901;SIFT_pred=T;Polyphen2_HDIV_score=0.01;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_pred=P;MutationAssessor_score=0.62;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_pred=T;phyloP100way_vertebrate=3.899;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=15.165;gerp++gt2=5.27;CADD=3.331;CADD_Phred=22.9;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:875,69,0 1 228402283 rs1771486 C G 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1771486;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.879;1000g2015aug_sas=0.9581;1000g2015aug_eur=0.9642;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.9049;1000g2015aug_all=0.867412;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 228430697 rs1771456 A G 347.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.157;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=0.042;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1771456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.6542;1000g2015aug_all=0.616414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:376,0,201 1 228431095 rs1771455 A G 905.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.321;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.598;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1771455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.6542;1000g2015aug_all=0.616613;esp6500siv2_all=0.7003;ExAC_ALL=0.6499;ExAC_AFR=0.7051;ExAC_AMR=0.6700;ExAC_EAS=0.5783;ExAC_FIN=0.7014;ExAC_NFE=0.6797;ExAC_OTH=0.6205;ExAC_SAS=0.5015;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,35:81:99:934,0,1341 1 228431930 rs10916293 C T 2357.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.15;DP=198;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.646;SOR=0.679;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916293;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.4581;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.711;1000g2015aug_amr=0.6527;1000g2015aug_all=0.616813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:107,90:197:99:2386,0,2805 1 228432860 rs1757130 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.44;MQRankSum=-0.566;QD=10.82;ReadPosRankSum=-0.652;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1158\x3bName\x3e"405128:L1MEg(LINE)";avsnp150=rs1757130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.6556;1000g2015aug_all=0.616813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 228433217 rs2487384 A G 1085.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.354;DP=120;ExcessHet=3.0103;FS=0.734;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.468;SOR=0.795;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2487384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7095;1000g2015aug_amr=0.6542;1000g2015aug_all=0.616613;esp6500siv2_all=0.6987;ExAC_ALL=0.6502;ExAC_AFR=0.7041;ExAC_AMR=0.6695;ExAC_EAS=0.5806;ExAC_FIN=0.7014;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5038;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,41:120:99:1114,0,2292 1 228433491 rs1888681 T C 227.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-1.355;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1888681;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6542;1000g2015aug_all=0.617612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:256,0,173 1 228433556 rs1888680 A T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.44;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e403\x3bName\x3e"405129:MIR(SINE)";avsnp150=rs1888680;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.848;1000g2015aug_amr=0.6902;1000g2015aug_all=0.66274;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,105 1 228434395 rs7517088 T C 1424.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=83;ExcessHet=3.0103;FS=7.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-1.962;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6542;1000g2015aug_all=0.617612;esp6500siv2_all=0.6989;ExAC_ALL=0.6498;ExAC_AFR=0.7052;ExAC_AMR=0.6695;ExAC_EAS=0.5791;ExAC_FIN=0.7016;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5013;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,45:82:99:1453,0,1147 1 228434467 rs7517108 T C 682.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.451;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.792;SOR=0.681;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7517108;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.4622;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.848;1000g2015aug_amr=0.6902;1000g2015aug_all=0.66254;esp6500siv2_all=0.7295;ExAC_ALL=0.6689;ExAC_AFR=0.8216;ExAC_AMR=0.7404;ExAC_EAS=0.5954;ExAC_FIN=0.7009;ExAC_NFE=0.6802;ExAC_OTH=0.6258;ExAC_SAS=0.5101;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,23:49:99:711,0,734 1 228434602 rs1411915 A T 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.737;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.412;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1411915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.6421;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6888;1000g2015aug_all=0.664137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,7:13:99:185,0,177 1 228437603 rs6426494 T C 1348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.087;DP=93;ExcessHet=3.0103;FS=0.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.008;SOR=0.555;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426494;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6151;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.854;1000g2015aug_amr=0.6873;1000g2015aug_all=0.663738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:46,47:93:99:1377,0,1334 1 228438045 rs12737540 G A 263.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=-0.752;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2489;1000g2015aug_amr=0.2939;1000g2015aug_all=0.251997;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:292,0,208 1 228444318 rs7532144 T G 628.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.113;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=2.243;SOR=0.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532144;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6513;1000g2015aug_all=0.617013;esp6500siv2_all=0.6992;ExAC_ALL=0.6507;ExAC_AFR=0.7065;ExAC_AMR=0.6713;ExAC_EAS=0.5813;ExAC_FIN=0.7026;ExAC_NFE=0.6799;ExAC_OTH=0.6211;ExAC_SAS=0.5022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,22:42:99:657,0,509 1 228444565 rs7532342 T A 2849.77 PASS AC=2;AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532342;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=-4.3;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;phyloP100way_vertebrate=6.737;phyloP20way_mammalian=0.200;SiPhy_29way_logOdds=10.586;gerp++gt2=4.6;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,86:86:99:2878,258,0 1 228444741 rs3795780 C T 397.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.189;DP=24;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.347;SOR=2.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5992;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.6402;1000g2015aug_afr=0.7133;1000g2015aug_amr=0.6513;1000g2015aug_all=0.617013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,12:24:99:426,0,360 1 228451826 rs453140 C T 865.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.97;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.252;SOR=0.772;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs453140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.2761;1000g2015aug_amr=0.2983;1000g2015aug_all=0.30631;esp6500siv2_all=0.2679;ExAC_ALL=0.2944;ExAC_AFR=0.2505;ExAC_AMR=0.2738;ExAC_EAS=0.4042;ExAC_FIN=0.3589;ExAC_NFE=0.2922;ExAC_OTH=0.2897;ExAC_SAS=0.2611;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.3;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_pred=T;phyloP100way_vertebrate=-1.916;phyloP20way_mammalian=-0.767;SiPhy_29way_logOdds=6.177;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,36:101:99:894,0,1746 1 228456147 rs878388 T C 1473.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.018;DP=86;ExcessHet=3.0103;FS=0.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.86;SOR=0.555;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs878388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6131;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.671;1000g2015aug_afr=0.851;1000g2015aug_amr=0.6974;1000g2015aug_all=0.671126;esp6500siv2_all=.;ExAC_ALL=0.7215;ExAC_AFR=0.8466;ExAC_AMR=0.7815;ExAC_EAS=0.6607;ExAC_FIN=0.7683;ExAC_NFE=0.7442;ExAC_OTH=0.6971;ExAC_SAS=0.5668;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,52:86:99:1502,0,809 1 228460217 rs424645 C T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000602517.1,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs424645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.2519;1000g2015aug_amr=0.2968;1000g2015aug_all=0.248602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,105 1 228461129 rs1188724 A G 1009.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.47;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.042;SOR=0.598;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001271223;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000602517.1,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188724;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.663;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.6974;1000g2015aug_all=0.69349;esp6500siv2_all=0.7357;ExAC_ALL=0.6908;ExAC_AFR=0.8132;ExAC_AMR=0.7420;ExAC_EAS=0.7286;ExAC_FIN=0.7517;ExAC_NFE=0.6973;ExAC_OTH=0.6432;ExAC_SAS=0.5151;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;phyloP100way_vertebrate=-1.645;phyloP20way_mammalian=-1.962;SiPhy_29way_logOdds=11.816;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,38:76:99:1038,0,1072 1 228463433 rs510931 C T 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.02;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.817;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000602947.1,ENST00000570156.6,ENST00000366707.8,ENST00000602529.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs510931;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.289;1000g2015aug_amr=0.2997;1000g2015aug_all=0.258786;esp6500siv2_all=0.2387;ExAC_ALL=0.3119;ExAC_AFR=0.3237;ExAC_AMR=0.3650;ExAC_EAS=0.2811;ExAC_FIN=0.5;ExAC_NFE=0.3414;ExAC_OTH=0.2672;ExAC_SAS=0.2834;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:209,0,258 1 228464248 rs1188721 T G 685.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.849;DP=58;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.233;SOR=0.969;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188721;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.664;1000g2015aug_afr=0.8495;1000g2015aug_amr=0.7003;1000g2015aug_all=0.695487;esp6500siv2_all=0.7384;ExAC_ALL=0.6930;ExAC_AFR=0.8190;ExAC_AMR=0.7452;ExAC_EAS=0.7280;ExAC_FIN=0.7555;ExAC_NFE=0.6998;ExAC_OTH=0.6572;ExAC_SAS=0.5172;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;phyloP100way_vertebrate=-0.133;phyloP20way_mammalian=-0.337;SiPhy_29way_logOdds=7.276;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,30:58:99:714,0,711 1 228464276 rs1188722 T C 772.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.936;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.311;SOR=0.748;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.75;1000g2015aug_sas=0.4601;1000g2015aug_eur=0.663;1000g2015aug_afr=0.733;1000g2015aug_amr=0.6931;1000g2015aug_all=0.663538;esp6500siv2_all=0.7089;ExAC_ALL=0.6843;ExAC_AFR=0.7208;ExAC_AMR=0.7400;ExAC_EAS=0.7297;ExAC_FIN=0.7553;ExAC_NFE=0.6993;ExAC_OTH=0.6523;ExAC_SAS=0.5187;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=-3.01;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_pred=T;phyloP100way_vertebrate=1.606;phyloP20way_mammalian=-0.454;SiPhy_29way_logOdds=11.771;gerp++gt2=4.23;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,32:61:99:801,0,763 1 228464842 rs936885 C G 1666.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.044;DP=111;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.175;SOR=0.876;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs936885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.659;1000g2015aug_afr=0.8487;1000g2015aug_amr=0.7017;1000g2015aug_all=0.69369;esp6500siv2_all=0.7387;ExAC_ALL=0.6935;ExAC_AFR=0.8326;ExAC_AMR=0.7542;ExAC_EAS=0.7475;ExAC_FIN=0.7694;ExAC_NFE=0.7158;ExAC_OTH=0.6606;ExAC_SAS=0.5334;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,60:111:99:1695,0,1385 1 228465370 rs867599 T G 2107.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.467;DP=163;ExcessHet=3.0103;FS=2.739;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.609;SOR=0.6;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs867599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.4571;1000g2015aug_eur=0.67;1000g2015aug_afr=0.7542;1000g2015aug_amr=0.6988;1000g2015aug_all=0.669529;esp6500siv2_all=.;ExAC_ALL=0.7209;ExAC_AFR=0.7637;ExAC_AMR=0.7787;ExAC_EAS=0.7850;ExAC_FIN=0.8019;ExAC_NFE=0.7351;ExAC_OTH=0.6969;ExAC_SAS=0.5538;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,80:163:99:2136,0,2074 1 228466843 rs142671595 C T 510.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.867;DP=42;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.277;SOR=0.768;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs142671595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0102;1000g2015aug_eur=0.0129;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00499201;esp6500siv2_all=0.0081;ExAC_ALL=0.0084;ExAC_AFR=0.0015;ExAC_AMR=0.0043;ExAC_EAS=0;ExAC_FIN=0.0204;ExAC_NFE=0.0107;ExAC_OTH=0.0124;ExAC_SAS=0.0056;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,20:42:99:539,0,656 1 228468458 rs1188697 G A 550.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.889;DP=59;ExcessHet=3.0103;FS=2.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.295;SOR=1.143;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188697;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2962;1000g2015aug_afr=0.469;1000g2015aug_amr=0.3343;1000g2015aug_all=0.31889;esp6500siv2_all=0.2962;ExAC_ALL=0.3004;ExAC_AFR=0.4028;ExAC_AMR=0.2863;ExAC_EAS=0.2060;ExAC_FIN=0.3870;ExAC_NFE=0.3115;ExAC_OTH=0.2897;ExAC_SAS=0.2283;SIFT_score=0.14;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.41;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;phyloP100way_vertebrate=0.482;phyloP20way_mammalian=0.134;SiPhy_29way_logOdds=8.559;gerp++gt2=.;CADD=1.572;CADD_Phred=13.70;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,23:59:99:579,0,1001 1 228470995 rs1150906 G T 733.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.294;DP=61;ExcessHet=3.0103;FS=2.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.158;SOR=1.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150906;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.4675;1000g2015aug_amr=0.3329;1000g2015aug_all=0.318091;esp6500siv2_all=0.3080;ExAC_ALL=0.3453;ExAC_AFR=0.4437;ExAC_AMR=0.3748;ExAC_EAS=0.3027;ExAC_FIN=0.4841;ExAC_NFE=0.3709;ExAC_OTH=0.3190;ExAC_SAS=0.2534;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,25:60:99:762,0,1043 1 228473600 rs1150907 A G 230.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.602;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=-2.029;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.4735;1000g2015aug_amr=0.4193;1000g2015aug_all=0.382588;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,100 1 228475016 rs9426532 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e366\x3bName\x3e"405173:MLT1B(LTR)";avsnp150=rs9426532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.4107;1000g2015aug_all=0.368011;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228475848 rs437129 G A 3162.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.101;DP=194;ExcessHet=3.0103;FS=6.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.769;SOR=0.409;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs437129;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.2025;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.4153;1000g2015aug_amr=0.3242;1000g2015aug_all=0.302716;esp6500siv2_all=0.3055;ExAC_ALL=0.2923;ExAC_AFR=0.3499;ExAC_AMR=0.2816;ExAC_EAS=0.2052;ExAC_FIN=0.3863;ExAC_NFE=0.3041;ExAC_OTH=0.2833;ExAC_SAS=0.2265;SIFT_score=0.4;SIFT_pred=T;Polyphen2_HDIV_score=0.947;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=2.895;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_pred=T;phyloP100way_vertebrate=2.760;phyloP20way_mammalian=1.045;SiPhy_29way_logOdds=10.701;gerp++gt2=4.99;CADD=4.107;CADD_Phred=23.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:86,108:194:99:3191,0,2520 1 228480282 rs1150908 A G 1470.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.807;DP=117;ExcessHet=3.0103;FS=4.639;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.014;SOR=1.125;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.672;1000g2015aug_afr=0.8669;1000g2015aug_amr=0.7147;1000g2015aug_all=0.698882;esp6500siv2_all=0.7438;ExAC_ALL=0.6946;ExAC_AFR=0.8268;ExAC_AMR=0.7487;ExAC_EAS=0.7309;ExAC_FIN=0.7722;ExAC_NFE=0.7029;ExAC_OTH=0.6533;ExAC_SAS=0.4970;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,56:117:99:1499,0,1740 1 228482010 rs449133 C T 1898.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.627;DP=189;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.337;SOR=0.685;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs449133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4821;1000g2015aug_afr=0.472;1000g2015aug_amr=0.4179;1000g2015aug_all=0.381989;esp6500siv2_all=0.4681;ExAC_ALL=0.4358;ExAC_AFR=0.4244;ExAC_AMR=0.3494;ExAC_EAS=0.2061;ExAC_FIN=0.5641;ExAC_NFE=0.4961;ExAC_OTH=0.4278;ExAC_SAS=0.3281;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:114,75:189:99:1927,0,3318 1 228482285 rs1150909 T C 652.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.639;DP=51;ExcessHet=3.0103;FS=6.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.811;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.4366;1000g2015aug_eur=0.672;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.7147;1000g2015aug_all=0.698682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,20:51:99:681,0,993 1 228486784 rs287613 G A 139.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=13;ExcessHet=3.0103;FS=8.921;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.687;SOR=0.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000602778.1,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs287613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.3773;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.696;1000g2015aug_all=0.595248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,5:13:99:168,0,295 1 228491207 rs536515 C A 297.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.1;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.438;SOR=0.96;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs536515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.272;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.2769;1000g2015aug_amr=0.3991;1000g2015aug_all=0.329273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:326,0,441 1 228492044 rs1150910 G A 1357.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.988;DP=115;ExcessHet=3.0103;FS=0.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.666;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001271223;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.4121;1000g2015aug_all=0.369209;esp6500siv2_all=0.4536;ExAC_ALL=0.4336;ExAC_AFR=0.3862;ExAC_AMR=0.3476;ExAC_EAS=0.2052;ExAC_FIN=0.5646;ExAC_NFE=0.4986;ExAC_OTH=0.4243;ExAC_SAS=0.3280;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,52:115:99:1386,0,1671 1 228494382 rs1150911 T G 1052.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.317;DP=61;ExcessHet=3.0103;FS=7.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=0.843;SOR=1.795;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150911;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.4207;1000g2015aug_all=0.383387;esp6500siv2_all=0.6461;ExAC_ALL=0.4456;ExAC_AFR=0.4276;ExAC_AMR=0.3563;ExAC_EAS=0.2161;ExAC_FIN=0.5718;ExAC_NFE=0.5074;ExAC_OTH=0.4332;ExAC_SAS=0.3334;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,36:61:99:1081,0,622 1 228494790 rs435776 G A 866.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.035;DP=75;ExcessHet=3.0103;FS=0.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.214;SOR=0.538;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs435776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.271;1000g2015aug_eur=0.4841;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.3775;1000g2015aug_all=0.26857;esp6500siv2_all=0.3663;ExAC_ALL=0.4091;ExAC_AFR=0.1020;ExAC_AMR=0.3351;ExAC_EAS=0.2060;ExAC_FIN=0.5709;ExAC_NFE=0.4976;ExAC_OTH=0.4180;ExAC_SAS=0.3271;SIFT_score=0.455;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.005;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_pred=T;phyloP100way_vertebrate=-0.596;phyloP20way_mammalian=-0.239;SiPhy_29way_logOdds=7.364;gerp++gt2=.;CADD=2.944;CADD_Phred=22.0;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,32:75:99:895,0,1191 1 228495664 rs419338 T A 462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.424;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.365;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs419338;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.673;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.7147;1000g2015aug_all=0.698682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,17:36:99:491,0,652 1 228495696 rs419173 T C 621.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.189;DP=52;ExcessHet=3.0103;FS=2.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.366;SOR=0.325;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs419173;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.673;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.7147;1000g2015aug_all=0.700479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,25:52:99:650,0,783 1 228497053 rs379620 A G 2069.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.211;DP=155;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.011;SOR=0.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e191\x3bName\x3e"405190:L3(LINE)";avsnp150=rs379620;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.673;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.7147;1000g2015aug_all=0.698682;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:83,72:155:99:2098,0,2232 1 228497470 rs378090 A G 118.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.298;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs378090;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.747;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.673;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.7147;1000g2015aug_all=0.70028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:147,0,179 1 228503677 rs1150912 A G 1113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.897;DP=102;ExcessHet=3.0103;FS=3.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.007;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150912;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8722;1000g2015aug_amr=0.7147;1000g2015aug_all=0.700879;esp6500siv2_all=0.7499;ExAC_ALL=0.7014;ExAC_AFR=0.8324;ExAC_AMR=0.7588;ExAC_EAS=0.7335;ExAC_FIN=0.7888;ExAC_NFE=0.7111;ExAC_OTH=0.6720;ExAC_SAS=0.5181;SIFT_score=0.866;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.44;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;phyloP100way_vertebrate=-0.125;phyloP20way_mammalian=-1.090;SiPhy_29way_logOdds=11.509;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,46:100:99:1142,0,1476 1 228504027 rs3119591 C T 150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.231;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3119591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.273;1000g2015aug_eur=0.4871;1000g2015aug_afr=0.4486;1000g2015aug_amr=0.4179;1000g2015aug_all=0.377596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:179,0,140 1 228504239 rs3119592 G T 128.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.674;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3119592;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.273;1000g2015aug_eur=0.497;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.4236;1000g2015aug_all=0.387979;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,5:6:24:157,0,24 1 228504472 rs1188732 T C 761.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.142;DP=61;ExcessHet=3.0103;FS=3.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.723;SOR=0.364;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.7147;1000g2015aug_all=0.699281;esp6500siv2_all=0.7441;ExAC_ALL=0.6949;ExAC_AFR=0.8259;ExAC_AMR=0.7505;ExAC_EAS=0.7283;ExAC_FIN=0.7761;ExAC_NFE=0.7040;ExAC_OTH=0.6470;ExAC_SAS=0.5033;SIFT_score=0.453;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.455;MutationAssessor_pred=N;FATHMM_score=-0.89;FATHMM_pred=T;phyloP100way_vertebrate=0.597;phyloP20way_mammalian=-0.364;SiPhy_29way_logOdds=3.614;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,29:61:99:790,0,881 1 228504670 rs11810627 C T 454.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.805;DP=40;ExcessHet=3.0103;FS=3.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.272;SOR=0.197;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11810627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.273;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.4006;1000g2015aug_all=0.330272;esp6500siv2_all=0.3755;ExAC_ALL=0.4230;ExAC_AFR=0.3255;ExAC_AMR=0.3583;ExAC_EAS=0.2462;ExAC_FIN=0.6111;ExAC_NFE=0.5071;ExAC_OTH=0.4385;ExAC_SAS=0.3816;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-1.07;FATHMM_pred=T;phyloP100way_vertebrate=2.093;phyloP20way_mammalian=0.035;SiPhy_29way_logOdds=10.362;gerp++gt2=.;CADD=3.693;CADD_Phred=23.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:22,18:40:99:483,0,719 1 228505668 rs1188729 C G 781.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.576;DP=64;ExcessHet=3.0103;FS=2.177;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.444;SOR=0.428;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188729;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8661;1000g2015aug_amr=0.7147;1000g2015aug_all=0.699281;esp6500siv2_all=0.7453;ExAC_ALL=0.6940;ExAC_AFR=0.8253;ExAC_AMR=0.7480;ExAC_EAS=0.7293;ExAC_FIN=0.7731;ExAC_NFE=0.7027;ExAC_OTH=0.6478;ExAC_SAS=0.4959;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.655;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;phyloP100way_vertebrate=0.832;phyloP20way_mammalian=0.037;SiPhy_29way_logOdds=7.934;gerp++gt2=2.58;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,30:64:99:810,0,1054 1 228505699 rs1188728 T C 817.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.599;DP=69;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.516;SOR=0.457;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188728;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.748;1000g2015aug_sas=0.4387;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8888;1000g2015aug_amr=0.719;1000g2015aug_all=0.705871;esp6500siv2_all=0.7531;ExAC_ALL=0.6974;ExAC_AFR=0.8496;ExAC_AMR=0.7495;ExAC_EAS=0.7299;ExAC_FIN=0.7775;ExAC_NFE=0.7045;ExAC_OTH=0.65;ExAC_SAS=0.4961;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,34:69:99:846,0,992 1 228509427 rs373610 A G 3025.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.45;DP=232;ExcessHet=3.0103;FS=0.484;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.92;SOR=0.64;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs373610;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.674;1000g2015aug_afr=0.8684;1000g2015aug_amr=0.6758;1000g2015aug_all=0.684704;esp6500siv2_all=0.7397;ExAC_ALL=0.6862;ExAC_AFR=0.8257;ExAC_AMR=0.7027;ExAC_EAS=0.6881;ExAC_FIN=0.7721;ExAC_NFE=0.7021;ExAC_OTH=0.6448;ExAC_SAS=0.4946;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.095;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_pred=T;phyloP100way_vertebrate=2.138;phyloP20way_mammalian=-1.014;SiPhy_29way_logOdds=4.77;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:119,113:232:99:3054,0,3295 1 228520382 rs429335 G A 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.705;DP=20;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-1.158;SOR=0.09;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs429335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.1861;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.41;1000g2015aug_amr=0.3862;1000g2015aug_all=0.332867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,8:20:99:240,0,441 1 228520763 rs384553 G A 345.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.989;DP=18;ExcessHet=3.0103;FS=2.336;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.34;ReadPosRankSum=-1.561;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs384553;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.389;1000g2015aug_all=0.34365;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,11:17:99:374,0,199 1 228520880 rs416564 C T 252.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.615;DP=14;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-0.169;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs416564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.389;1000g2015aug_all=0.341853;esp6500siv2_all=0.3997;ExAC_ALL=0.3974;ExAC_AFR=0.4161;ExAC_AMR=0.3715;ExAC_EAS=0.2331;ExAC_FIN=0.5008;ExAC_NFE=0.4551;ExAC_OTH=0.3556;ExAC_SAS=0.2554;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:281,0,86 1 228520973 rs369909 C G 662.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.21;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.698;SOR=0.6;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs369909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.1881;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.3847;1000g2015aug_all=0.335064;esp6500siv2_all=0.3947;ExAC_ALL=0.3938;ExAC_AFR=0.4039;ExAC_AMR=0.3805;ExAC_EAS=0.2645;ExAC_FIN=0.5105;ExAC_NFE=0.4651;ExAC_OTH=0.3388;ExAC_SAS=0.2627;SIFT_score=0.179;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.936;MutationTaster_pred=P;MutationAssessor_score=0.19;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;phyloP100way_vertebrate=1.482;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=7.164;gerp++gt2=2.01;CADD=1.995;CADD_Phred=16.18;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,27:66:99:691,0,988 1 228523442 rs1684868 T C 1209.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.608;DP=63;ExcessHet=3.0103;FS=5.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=-0.289;SOR=0.294;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1684868;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.362;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.4985;1000g2015aug_amr=0.428;1000g2015aug_all=0.478435;esp6500siv2_all=0.5012;ExAC_ALL=0.4886;ExAC_AFR=0.4647;ExAC_AMR=0.3518;ExAC_EAS=0.5482;ExAC_FIN=0.6188;ExAC_NFE=0.5182;ExAC_OTH=0.4609;ExAC_SAS=0.3977;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,30:63:99:1238,0,1289 1 228523447 rs10799473 T C 2615.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=1.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10799473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.638;1000g2015aug_eur=0.829;1000g2015aug_afr=0.9871;1000g2015aug_amr=0.7752;1000g2015aug_all=0.813498;esp6500siv2_all=0.8711;ExAC_ALL=0.8090;ExAC_AFR=0.9688;ExAC_AMR=0.7785;ExAC_EAS=0.7680;ExAC_FIN=0.8227;ExAC_NFE=0.8273;ExAC_OTH=0.8009;ExAC_SAS=0.6778;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:2644,201,0 1 228523448 rs1757161 G A 1245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.894;DP=67;ExcessHet=3.0103;FS=3.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.59;ReadPosRankSum=-0.64;SOR=0.353;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1757161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.3876;1000g2015aug_all=0.352636;esp6500siv2_all=0.3877;ExAC_ALL=0.3776;ExAC_AFR=0.4146;ExAC_AMR=0.3171;ExAC_EAS=0.2072;ExAC_FIN=0.4599;ExAC_NFE=0.4257;ExAC_OTH=0.3430;ExAC_SAS=0.2617;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,33:67:99:1274,0,1323 1 228523618 rs1757160 G A 989.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.27;DP=86;ExcessHet=3.0103;FS=0.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.338;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e334\x3bName\x3e"405227:MIRc(SINE)";avsnp150=rs1757160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5655;1000g2015aug_sas=0.362;1000g2015aug_eur=0.5129;1000g2015aug_afr=0.4834;1000g2015aug_amr=0.4265;1000g2015aug_all=0.474241;esp6500siv2_all=0.5028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,39:86:99:1018,0,1261 1 228524919 rs3795807 G A 1585.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.795;DP=136;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.074;SOR=0.676;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795807;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.3458;1000g2015aug_all=0.240016;esp6500siv2_all=0.3154;ExAC_ALL=0.3542;ExAC_AFR=0.0964;ExAC_AMR=0.3094;ExAC_EAS=0.2097;ExAC_FIN=0.4670;ExAC_NFE=0.4286;ExAC_OTH=0.3453;ExAC_SAS=0.2654;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:79,56:135:99:1614,0,2351 1 228524961 rs3795808 C A 1783.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.231;DP=161;ExcessHet=3.0103;FS=0.588;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.465;SOR=0.617;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.2168;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.3458;1000g2015aug_all=0.239816;esp6500siv2_all=0.3155;ExAC_ALL=0.3570;ExAC_AFR=0.0981;ExAC_AMR=0.3123;ExAC_EAS=0.2149;ExAC_FIN=0.4710;ExAC_NFE=0.4306;ExAC_OTH=0.3486;ExAC_SAS=0.2670;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,69:160:99:1812,0,2521 1 228525627 rs1757127 C A 436.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.137;DP=29;ExcessHet=3.0103;FS=6.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=1.147;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1757127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4185;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.3458;1000g2015aug_all=0.240216;esp6500siv2_all=0.3153;ExAC_ALL=0.3887;ExAC_AFR=0.1188;ExAC_AMR=0.3531;ExAC_EAS=0.2612;ExAC_FIN=0.4964;ExAC_NFE=0.4565;ExAC_OTH=0.3757;ExAC_SAS=0.2885;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,18:29:99:465,0,305 1 228525898 rs1188717 C G 1119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.004;DP=59;ExcessHet=3.0103;FS=5.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.342;SOR=1.088;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.5199;1000g2015aug_afr=0.6672;1000g2015aug_amr=0.4654;1000g2015aug_all=0.538339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,36:59:99:1148,0,615 1 228526272 rs419808 G A 340.98 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.97;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.41;ReadPosRankSum=0.862;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs419808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.4205;1000g2015aug_afr=0.4644;1000g2015aug_amr=0.3862;1000g2015aug_all=0.353435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,10:12:13:369,0,13 1 228526486 rs58480216 G A 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.863;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.46;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58480216;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.247;1000g2015aug_sas=0.2157;1000g2015aug_eur=0.4195;1000g2015aug_afr=0.059;1000g2015aug_amr=0.2651;1000g2015aug_all=0.228435;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:274,0,184 1 228526578 rs144372515 T A 219.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.482;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.609;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs144372515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0119;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00439297;esp6500siv2_all=0.0072;ExAC_ALL=0.0085;ExAC_AFR=0.0032;ExAC_AMR=0.0078;ExAC_EAS=0;ExAC_FIN=0.0221;ExAC_NFE=0.0137;ExAC_OTH=0.0110;ExAC_SAS=0.0049;SIFT_score=0.12;SIFT_pred=T;Polyphen2_HDIV_score=0.927;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.69;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.768;MutationTaster_pred=N;MutationAssessor_score=1.67;MutationAssessor_pred=L;FATHMM_score=-0.05;FATHMM_pred=T;phyloP100way_vertebrate=-0.109;phyloP20way_mammalian=-1.003;SiPhy_29way_logOdds=10.255;gerp++gt2=.;CADD=4.894;CADD_Phred=24.9;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,9:20:99:248,0,297 1 228526665 rs505629 T C 217.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.139;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=0.409;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs505629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.3609;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.5522;1000g2015aug_amr=0.4294;1000g2015aug_all=0.494409;esp6500siv2_all=0.5554;ExAC_ALL=0.4897;ExAC_AFR=0.5232;ExAC_AMR=0.4073;ExAC_EAS=0.6021;ExAC_FIN=0.7303;ExAC_NFE=0.5318;ExAC_OTH=0.4111;ExAC_SAS=0.4261;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:246,0,131 1 228528412 rs1150916 G A 3170.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.171;DP=228;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.004;SOR=0.567;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1150916;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4215;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.3847;1000g2015aug_all=0.351837;esp6500siv2_all=0.4097;ExAC_ALL=0.3916;ExAC_AFR=0.4236;ExAC_AMR=0.3311;ExAC_EAS=0.2294;ExAC_FIN=0.4811;ExAC_NFE=0.4383;ExAC_OTH=0.3570;ExAC_SAS=0.2760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:108,119:227:99:3199,0,2999 1 228528563 rs1188710 C G 2740.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.297;DP=198;ExcessHet=3.0103;FS=0.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.254;SOR=0.608;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.6679;1000g2015aug_amr=0.4654;1000g2015aug_all=0.538738;esp6500siv2_all=0.5488;ExAC_ALL=0.5468;ExAC_AFR=0.6367;ExAC_AMR=0.48;ExAC_EAS=0.6102;ExAC_FIN=0.6691;ExAC_NFE=0.5577;ExAC_OTH=0.5109;ExAC_SAS=0.4379;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-2.25;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;phyloP100way_vertebrate=4.836;phyloP20way_mammalian=-0.274;SiPhy_29way_logOdds=14.134;gerp++gt2=4.12;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:99,99:198:99:2769,0,2732 1 228537942 rs729258 T C 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.097;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.976;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000284548.15,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs729258;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.746;1000g2015aug_sas=0.7843;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5348;1000g2015aug_amr=0.6153;1000g2015aug_all=0.645966;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,183 1 228539300 rs3795812 G A 110.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.18;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000284548.15,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795812;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7302;1000g2015aug_sas=0.7751;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.5764;1000g2015aug_all=0.60024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:139,15,0 1 228540542 rs6695278 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223,NM_052843;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695278;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.6288;1000g2015aug_eur=0.4781;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.536;1000g2015aug_all=0.461462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228547769 rs151322036 C T 1423.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.074;DP=84;ExcessHet=3.0103;FS=5.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-0.733;SOR=0.295;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_052843:exon81:c.C19176T:p.V6392V;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5,ENST00000284548.15;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs151322036;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00479233;esp6500siv2_all=0.0078;ExAC_ALL=0.0136;ExAC_AFR=0.0033;ExAC_AMR=0.0078;ExAC_EAS=0;ExAC_FIN=0.0547;ExAC_NFE=0.0176;ExAC_OTH=0.0238;ExAC_SAS=0.0068;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,46:84:99:1452,0,1220 1 228547901 rs12035900 C T 1462.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.097;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.686;SOR=0.655;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_052843;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;Gencode=Name\x3eENST00000284548.15,ENST00000422127.5,ENST00000366707.8,ENST00000570156.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12035900;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2669;1000g2015aug_sas=0.5419;1000g2015aug_eur=0.328;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.3112;1000g2015aug_all=0.298722;esp6500siv2_all=0.2535;ExAC_ALL=0.3126;ExAC_AFR=0.1635;ExAC_AMR=0.3209;ExAC_EAS=0.2866;ExAC_FIN=0.2343;ExAC_NFE=0.2981;ExAC_OTH=0.3509;ExAC_SAS=0.4932;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,54:107:99:1491,0,1449 1 228551388 rs9726122 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9726122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5942;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.4801;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.4496;1000g2015aug_all=0.642173;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228551393 rs9728020 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9728020;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.7249;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.4496;1000g2015aug_all=0.641773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228556788 rs3738685 C T 624.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.717;DP=38;ExcessHet=3.0103;FS=1.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.507;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.251;1000g2015aug_sas=0.5378;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.3141;1000g2015aug_all=0.320487;esp6500siv2_all=0.3121;ExAC_ALL=0.3818;ExAC_AFR=0.2469;ExAC_AMR=0.3053;ExAC_EAS=0.3030;ExAC_FIN=0.3070;ExAC_NFE=0.3910;ExAC_OTH=0.4111;ExAC_SAS=0.5104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,20:38:99:653,0,603 1 228559994 rs500049 C T 1116.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.441;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.538;SOR=0.666;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;Gencode=Name\x3eENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs500049;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5625;1000g2015aug_sas=0.6851;1000g2015aug_eur=0.504;1000g2015aug_afr=0.708;1000g2015aug_amr=0.389;1000g2015aug_all=0.589058;esp6500siv2_all=0.5550;ExAC_ALL=0.6192;ExAC_AFR=0.7076;ExAC_AMR=0.5245;ExAC_EAS=0.6578;ExAC_FIN=0.6214;ExAC_NFE=0.5975;ExAC_OTH=0.5802;ExAC_SAS=0.6561;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.905;MutationAssessor_pred=L;FATHMM_score=-0.02;FATHMM_pred=T;phyloP100way_vertebrate=1.536;phyloP20way_mammalian=0.069;SiPhy_29way_logOdds=11.612;gerp++gt2=3.71;CADD=2.792;CADD_Phred=21.3;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,45:93:99:1145,0,1283 1 228560139 rs498382 A G 533.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.884;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.136;SOR=0.719;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;Gencode=Name\x3eENST00000422127.5,ENST00000570156.6,ENST00000366707.8;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e16\x3bName\x3e"405277:GA-rich(Low_complexity)";avsnp150=rs498382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9949;1000g2015aug_eur=0.9066;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.964;1000g2015aug_all=0.974241;esp6500siv2_all=0.9449;ExAC_ALL=0.9502;ExAC_AFR=0.9863;ExAC_AMR=0.9606;ExAC_EAS=1;ExAC_FIN=0.8924;ExAC_NFE=0.9239;ExAC_OTH=0.9512;ExAC_SAS=0.9881;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,19:40:99:562,0,688 1 228560700 rs512253 T C 956.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.093;DP=70;ExcessHet=3.0103;FS=0.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.159;SOR=0.588;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=exonic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;Gencode=Name\x3eENST00000366707.8,ENST00000570156.6,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs512253;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.8067;1000g2015aug_eur=0.5636;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.6398;1000g2015aug_all=0.757987;esp6500siv2_all=0.6535;ExAC_ALL=0.6317;ExAC_AFR=0.8887;ExAC_AMR=0.6755;ExAC_EAS=0.7978;ExAC_FIN=0.5118;ExAC_NFE=0.5550;ExAC_OTH=0.648;ExAC_SAS=0.7625;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,36:70:99:985,0,993 1 228560990 rs579897 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.431;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs579897;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7579;1000g2015aug_sas=0.8047;1000g2015aug_eur=0.5646;1000g2015aug_afr=0.9365;1000g2015aug_amr=0.6412;1000g2015aug_all=0.759185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 228565556 rs145605408 T G 1302.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.482;DP=67;ExcessHet=3.0103;FS=3.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-1.262;SOR=0.37;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOBSCN;Func=intronic;Gene=NM_001098623,NM_001271223;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000570156.6,ENST00000366707.8,ENST00000422127.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs145605408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0082;1000g2015aug_eur=0.0139;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00479233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,44:67:99:1331,0,559 1 228589100 rs985576065 C T 218.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.111;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.847;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTRIM11;Func=intronic;Gene=NM_145214;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000284551.10,ENST00000493030.6,ENST00000366699.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs985576065;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:247,0,255 1 228612444 rs1188473 A G 581.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NM_003493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9599;1000g2015aug_amr=0.9625;1000g2015aug_all=0.873802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:610,48,0 1 228612838 rs2230656 G T 1247.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIST3H3;Func=exonic;Gene=NM_003493;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIST3H3:NM_003493:exon1:c.C189A:p.I63I;Gencode=Name\x3eENST00000366696.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2230656;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6895;1000g2015aug_sas=0.8558;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.3116;1000g2015aug_amr=0.8977;1000g2015aug_all=0.690296;esp6500siv2_all=0.7267;ExAC_ALL=0.8208;ExAC_AFR=0.3981;ExAC_AMR=0.9333;ExAC_EAS=0.6616;ExAC_FIN=0.7950;ExAC_NFE=0.8819;ExAC_OTH=0.8381;ExAC_SAS=0.8542;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1276,99,0 1 228612892 rs56336130 G A 535.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.037;DP=26;ExcessHet=3.0103;FS=3.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.61;ReadPosRankSum=-0.404;SOR=0.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHIST3H3;Func=exonic;Gene=NM_003493;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HIST3H3:NM_003493:exon1:c.C135T:p.G45G;Gencode=Name\x3eENST00000366696.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56336130;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0139;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.0519;1000g2015aug_all=0.0433307;esp6500siv2_all=0.0632;ExAC_ALL=0.0706;ExAC_AFR=0.0142;ExAC_AMR=0.0293;ExAC_EAS=0.0203;ExAC_FIN=0.0666;ExAC_NFE=0.0881;ExAC_OTH=0.0872;ExAC_SAS=0.0908;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,17:26:99:564,0,264 1 228613052 rs1188474 T C 1491.77 PASS AC=2;AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=0.735;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_003493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1188474;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.8599;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.9349;1000g2015aug_amr=0.9568;1000g2015aug_all=0.866214;esp6500siv2_all=0.9050;ExAC_ALL=0.8752;ExAC_AFR=0.9295;ExAC_AMR=0.9632;ExAC_EAS=0.6702;ExAC_FIN=0.7969;ExAC_NFE=0.8895;ExAC_OTH=0.8630;ExAC_SAS=0.8626;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,47:47:99:1520,141,0 1 228613442 rs3105114 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_003493;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2342\x3bName\x3e"405374:AluSq2(SINE)";avsnp150=rs3105114;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.62;1000g2015aug_sas=0.8425;1000g2015aug_eur=0.8708;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.8256;1000g2015aug_all=0.652556;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 228645063 rs10916317 A G 468.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.622;DP=52;ExcessHet=3.0103;FS=1.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.602;SOR=0.483;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream\x3bdownstream;Gene=NM_175055\x3bNM_033445;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366695.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7044;1000g2015aug_sas=0.8517;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.9463;1000g2015aug_amr=0.9337;1000g2015aug_all=0.846845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,20:52:99:497,0,841 1 228681749 rs3795817 C T 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.652;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRNF187;Func=UTR3;Gene=NM_001010858;GeneDetail=NM_001010858:c.*163C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000305943.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795817;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.6329;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.1838;1000g2015aug_amr=0.6023;1000g2015aug_all=0.453474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 228699477 rs6665115 T C 1700.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.506;DP=132;ExcessHet=3.0103;FS=0.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.23;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBTNL10;Func=exonic;Gene=NM_001287262;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BTNL10:NM_001287262:exon2:c.A182G:p.H61R;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6665115;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4444;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.2958;1000g2015aug_amr=0.6412;1000g2015aug_all=0.502396;esp6500siv2_all=.;ExAC_ALL=0.6023;ExAC_AFR=0.3534;ExAC_AMR=0.6060;ExAC_EAS=0.4289;ExAC_FIN=0.6915;ExAC_NFE=0.6051;ExAC_OTH=0.6168;ExAC_SAS=0.6271;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:69,63:132:99:1729,0,1989 1 228871693 rs3738073 C T 557.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.943;DP=50;ExcessHet=3.0103;FS=1.149;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.567;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRHOU;Func=exonic;Gene=NM_021205;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RHOU:NM_021205:exon1:c.C204T:p.S68S;Gencode=Name\x3eENST00000366691.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738073;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.2515;1000g2015aug_eur=0.172;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.0951;1000g2015aug_all=0.128994;esp6500siv2_all=0.1643;ExAC_ALL=0.1703;ExAC_AFR=0.1087;ExAC_AMR=0.0789;ExAC_EAS=0.0479;ExAC_FIN=0.1633;ExAC_NFE=0.1959;ExAC_OTH=0.1902;ExAC_SAS=0.2316;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,22:50:99:586,0,730 1 228906898 rs2144277 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021205,NR_039659;GeneDetail=dist\x3e24482\x3bdist\x3e403532;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2144277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.9294;1000g2015aug_eur=0.8827;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9308;1000g2015aug_all=0.914337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228906908 rs6426516 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021205,NR_039659;GeneDetail=dist\x3e24492\x3bdist\x3e403522;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426516;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6032;1000g2015aug_sas=0.8384;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.6182;1000g2015aug_all=0.654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 228906916 rs6426517 G A 62.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021205,NR_039659;GeneDetail=dist\x3e24500\x3bdist\x3e403514;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6426517;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6022;1000g2015aug_sas=0.8395;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.5325;1000g2015aug_amr=0.6182;1000g2015aug_all=0.654952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:90,6,0 1 229264015 rs12403810 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_021205,NR_039659;GeneDetail=dist\x3e381599\x3bdist\x3e46415;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12403810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.5798;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.2118;1000g2015aug_amr=0.5331;1000g2015aug_all=0.477236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229357256 rs58414188 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039659,NM_001271998;GeneDetail=dist\x3e46708\x3bdist\x3e49553;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs58414188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5675;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.4077;1000g2015aug_amr=0.5101;1000g2015aug_all=0.461861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229357306 rs10916450 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039659,NM_001271998;GeneDetail=dist\x3e46758\x3bdist\x3e49503;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916450;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.5086;1000g2015aug_all=0.465455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 229357307 rs10916451 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039659,NM_001271998;GeneDetail=dist\x3e46759\x3bdist\x3e49502;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10916451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5685;1000g2015aug_sas=0.4305;1000g2015aug_eur=0.4245;1000g2015aug_afr=0.4221;1000g2015aug_amr=0.5101;1000g2015aug_all=0.465855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 229360981 rs501082 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039659,NM_001271998;GeneDetail=dist\x3e50433\x3bdist\x3e45828;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000430677.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs501082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5466;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.3529;1000g2015aug_afr=0.7882;1000g2015aug_amr=0.4784;1000g2015aug_all=0.528554;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229385256 rs6695100 G A 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.02;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.253;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_039659,NM_001271998;GeneDetail=dist\x3e74708\x3bdist\x3e21553;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6695100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.3221;1000g2015aug_eur=0.4583;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.5014;1000g2015aug_all=0.365016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:258,0,209 1 229453148 rs186852722 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001271998,NM_145257;GeneDetail=dist\x3e11508\x3bdist\x3e3604;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4687\x3bName\x3e"407001:L1MEf(LINE)";avsnp150=rs186852722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0187;1000g2015aug_all=0.00698882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229561436 rs10799528 A G 62.74 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145257,NM_001100;GeneDetail=dist\x3e82748\x3bdist\x3e5557;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e144\x3bName\x3e"407247:GA-rich(Low_complexity)";avsnp150=rs10799528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.3783;1000g2015aug_eur=0.4414;1000g2015aug_afr=0.3351;1000g2015aug_amr=0.3689;1000g2015aug_all=0.396565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 229561460 rs775813 A G 62.74 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145257,NM_001100;GeneDetail=dist\x3e82772\x3bdist\x3e5533;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e144\x3bName\x3e"407247:GA-rich(Low_complexity)";avsnp150=rs775813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9591;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.8767;1000g2015aug_amr=0.8271;1000g2015aug_all=0.929712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 229568231 rs527621 T G 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTA1;Func=intronic;Gene=NM_001100;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366683.3,ENST00000366684.7;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs527621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.999;1000g2015aug_eur=0.999;1000g2015aug_afr=1;1000g2015aug_amr=0.9971;1000g2015aug_all=0.999002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 229730452 rs2295625 G A 8158.77 PASS AC=2;AF=1;AN=2;DP=251;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=0.846;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=exonic;Gene=NM_014409;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAF5L:NM_014409:exon5:c.C1362T:p.S454S;Gencode=Name\x3eENST00000366676.5,ENST00000258281.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3254;1000g2015aug_sas=0.4284;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.0938;1000g2015aug_amr=0.2666;1000g2015aug_all=0.303514;esp6500siv2_all=0.3565;ExAC_ALL=0.3986;ExAC_AFR=0.1340;ExAC_AMR=0.2504;ExAC_EAS=0.3293;ExAC_FIN=0.4655;ExAC_NFE=0.4632;ExAC_OTH=0.4218;ExAC_SAS=0.4150;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,250:250:99:8187,751,0 1 229731834 rs10799542 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=intronic;Gene=NM_014409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258281.6,ENST00000366676.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1735\x3bName\x3e"407638:AluJb(SINE)";avsnp150=rs10799542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.5139;1000g2015aug_afr=0.4924;1000g2015aug_amr=0.5447;1000g2015aug_all=0.573882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229738170 rs3753886 T G 4330.77 PASS AC=2;AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=0.929;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=exonic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAF5L:NM_001025247:exon4:c.A744C:p.R248R,TAF5L:NM_014409:exon4:c.A744C:p.R248R;Gencode=Name\x3eENST00000258281.6,ENST00000366676.5,ENST00000366675.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3753886;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.5447;1000g2015aug_all=0.573682;esp6500siv2_all=0.5115;ExAC_ALL=0.5508;ExAC_AFR=0.5128;ExAC_AMR=0.6649;ExAC_EAS=0.7638;ExAC_FIN=0.5581;ExAC_NFE=0.5073;ExAC_OTH=0.5507;ExAC_SAS=0.5557;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,130:130:99:4359,390,0 1 229738236 rs4925500 G A 4418.77 PASS AC=2;AF=1;AN=2;DP=134;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=0.851;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=exonic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TAF5L:NM_001025247:exon4:c.C678T:p.P226P,TAF5L:NM_014409:exon4:c.C678T:p.P226P;Gencode=Name\x3eENST00000258281.6,ENST00000366675.3,ENST00000366676.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4925500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9415;1000g2015aug_sas=0.7914;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.7219;1000g2015aug_all=0.842053;esp6500siv2_all=0.8075;ExAC_ALL=0.7898;ExAC_AFR=0.9153;ExAC_AMR=0.7831;ExAC_EAS=0.9495;ExAC_FIN=0.7408;ExAC_NFE=0.7536;ExAC_OTH=0.7941;ExAC_SAS=0.7972;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,134:134:99:4447,402,0 1 229745771 rs12735468 T C 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.86;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.449;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=intronic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366675.3,ENST00000366676.5,ENST00000258281.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e335\x3bName\x3e"407655:MER66C(LTR)";avsnp150=rs12735468;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0258;1000g2015aug_sas=0.0695;1000g2015aug_eur=0.1491;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0615016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:255,0,235 1 229746019 rs2273573 C T 1601.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=1.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=intronic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366676.5,ENST00000366675.3,ENST00000258281.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273573;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5695;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.5447;1000g2015aug_all=0.574081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1630,155,0 1 229750343 rs2273574 T G 1863.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.041;DP=123;ExcessHet=3.0103;FS=1.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.466;SOR=0.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=intronic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366674.1,ENST00000258281.6,ENST00000366675.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3085;1000g2015aug_sas=0.4315;1000g2015aug_eur=0.3072;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.2248;1000g2015aug_all=0.26278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,76:123:99:1892,0,1185 1 229758552 rs997125 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTAF5L;Func=intronic;Gene=NM_001025247,NM_014409;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258281.6,ENST00000366674.1,ENST00000366675.3;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1524\x3bName\x3e"407677:AluJo(SINE)";avsnp150=rs997125;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.501;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.3026;1000g2015aug_all=0.356629;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 229768297 rs1473719 C T 176.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1473719;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.4818;1000g2015aug_amr=0.5447;1000g2015aug_all=0.571885;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:205,18,0 1 229772693 rs3811473 T G 2389.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.66;SOR=0.779;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=exonic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=URB2:NM_001314021:exon4:c.T2333G:p.V778G,URB2:NM_014777:exon4:c.T2333G:p.V778G;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811473;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7649;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.5189;1000g2015aug_afr=0.4796;1000g2015aug_amr=0.5432;1000g2015aug_all=0.571885;esp6500siv2_all=0.5100;ExAC_ALL=0.5515;ExAC_AFR=0.5086;ExAC_AMR=0.6654;ExAC_EAS=0.7640;ExAC_FIN=0.5585;ExAC_NFE=0.5082;ExAC_OTH=0.5530;ExAC_SAS=0.5590;SIFT_score=0.951;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.877;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.7;MutationAssessor_pred=N;FATHMM_score=1.62;FATHMM_pred=T;phyloP100way_vertebrate=-0.341;phyloP20way_mammalian=-0.352;SiPhy_29way_logOdds=3.400;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2418,213,0 1 229774290 rs11585720 G A 43.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2470\x3bName\x3e"407696:AluY(SINE)";avsnp150=rs11585720;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.4543;1000g2015aug_afr=0.236;1000g2015aug_amr=0.2954;1000g2015aug_all=0.358427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:71,6,0 1 229779618 rs34055291 G A 322.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34055291;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3323;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.2968;1000g2015aug_all=0.35004;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:351,30,0 1 229781532 rs881694 T G 1319.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=4.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs881694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.5432;1000g2015aug_all=0.571086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1348,105,0 1 229781744 rs2274994 T C 4090.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=0.973;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4788;1000g2015aug_amr=0.5432;1000g2015aug_all=0.571086;esp6500siv2_all=0.5079;ExAC_ALL=0.5515;ExAC_AFR=0.5051;ExAC_AMR=0.6693;ExAC_EAS=0.7652;ExAC_FIN=0.5584;ExAC_NFE=0.5085;ExAC_OTH=0.5543;ExAC_SAS=0.5571;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:4119,357,0 1 229783236 rs6587349 T C 1983.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6587349;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.8807;1000g2015aug_afr=0.9902;1000g2015aug_amr=0.9467;1000g2015aug_all=0.963458;esp6500siv2_all=0.9087;ExAC_ALL=0.9137;ExAC_AFR=0.9793;ExAC_AMR=0.9610;ExAC_EAS=1;ExAC_FIN=0.8415;ExAC_NFE=0.8751;ExAC_OTH=0.9174;ExAC_SAS=0.9791;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:2012,135,0 1 229783240 rs2274995 T C 1955.77 PASS AC=2;AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2274995;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7639;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.5179;1000g2015aug_afr=0.4433;1000g2015aug_amr=0.5418;1000g2015aug_all=0.561502;esp6500siv2_all=0.4984;ExAC_ALL=0.5488;ExAC_AFR=0.4785;ExAC_AMR=0.6669;ExAC_EAS=0.7641;ExAC_FIN=0.5559;ExAC_NFE=0.5078;ExAC_OTH=0.5518;ExAC_SAS=0.5590;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,45:45:99:1984,135,0 1 229783521 rs200422564 G A 236.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.615;DP=23;ExcessHet=3.0103;FS=7.537;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.227;SOR=2.613;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=intronic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs200422564;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00499201;esp6500siv2_all=0.0006;ExAC_ALL=0.0043;ExAC_AFR=0;ExAC_AMR=0.0017;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0020;ExAC_OTH=0.0089;ExAC_SAS=0.0218;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,8:23:99:265,0,353 1 229790048 rs7521953 A G 3699.77 PASS AC=2;AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=0.761;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=exonic;Gene=NM_001314021,NM_014777;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=URB2:NM_001314021:exon9:c.A4290G:p.R1430R,URB2:NM_014777:exon9:c.A4290G:p.R1430R;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521953;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.5654;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.503;1000g2015aug_amr=0.5778;1000g2015aug_all=0.604034;esp6500siv2_all=0.5191;ExAC_ALL=0.5635;ExAC_AFR=0.5320;ExAC_AMR=0.6969;ExAC_EAS=0.8728;ExAC_FIN=0.5218;ExAC_NFE=0.5129;ExAC_OTH=0.5662;ExAC_SAS=0.5493;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,120:120:99:3728,360,0 1 229795070 rs1048306 T G 1690.77 PASS AC=2;AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eURB2;Func=UTR3;Gene=NM_001314021,NM_014777;GeneDetail=NM_001314021:c.*26T>G\x3bNM_014777:c.*26T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258243.6;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1048306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8343;1000g2015aug_sas=0.5644;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.5778;1000g2015aug_all=0.602037;esp6500siv2_all=0.5227;ExAC_ALL=0.5637;ExAC_AFR=0.5412;ExAC_AMR=0.6985;ExAC_EAS=0.8567;ExAC_FIN=0.5223;ExAC_NFE=0.5133;ExAC_OTH=0.5664;ExAC_SAS=0.5490;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,53:53:99:1719,159,0 1 229824978 rs71652400 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014777,NR_146476;GeneDetail=dist\x3e29031\x3bdist\x3e186319;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs71652400;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0337;1000g2015aug_sas=0.0644;1000g2015aug_eur=0.2117;1000g2015aug_afr=0.0862;1000g2015aug_amr=0.1282;1000g2015aug_all=0.102436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 229841139 rs7535031 C T 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.691;DP=12;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.259;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014777,NR_146476;GeneDetail=dist\x3e45192\x3bdist\x3e170158;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=Score\x3e0.895161\x3bName\x3echr3:22381774;Repeat=.;avsnp150=rs7535031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8135;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.5061;1000g2015aug_amr=0.4784;1000g2015aug_all=0.539137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,237 1 230232241 rs910821 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGALNT2;Func=intronic;Gene=NM_001291866,NM_004481;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366672.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"408651:(TCTCCCT)n(Simple_repeat)";avsnp150=rs910821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2718;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.2614;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.2176;1000g2015aug_all=0.272165;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 230401213 rs12724657 A G 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.616;DP=35;ExcessHet=3.0103;FS=7.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.618;SOR=0.048;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGALNT2;Func=intronic;Gene=NM_001291866,NM_004481;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366672.4,ENST00000440729.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12724657;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0092;1000g2015aug_eur=0.0099;1000g2015aug_afr=0.0008;1000g2015aug_amr=.;1000g2015aug_all=0.00419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:20,15:35:99:487,0,727 1 230415025 rs6698963 A G 1300.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.185;DP=122;ExcessHet=3.0103;FS=10.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.57;SOR=0.249;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGALNT2;Func=intronic;Gene=NM_001291866,NM_004481;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366672.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6698963;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9474;1000g2015aug_sas=0.5869;1000g2015aug_eur=0.4553;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.6556;1000g2015aug_all=0.722843;esp6500siv2_all=0.5933;ExAC_ALL=0.5619;ExAC_AFR=0.8515;ExAC_AMR=0.6206;ExAC_EAS=0.9447;ExAC_FIN=0.4128;ExAC_NFE=0.4600;ExAC_OTH=0.5102;ExAC_SAS=0.6088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:70,52:122:99:1329,0,1905 1 230415244 rs2273968 T C 428.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.217;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.848;SOR=0.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGALNT2;Func=UTR3;Gene=NM_001291866,NM_004481;GeneDetail=NM_001291866:c.*40T>C\x3bNM_004481:c.*40T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366672.4;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273968;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4435;1000g2015aug_sas=0.0971;1000g2015aug_eur=0.1064;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.2363;1000g2015aug_all=0.227636;esp6500siv2_all=0.1315;ExAC_ALL=0.1465;ExAC_AFR=0.2137;ExAC_AMR=0.1897;ExAC_EAS=0.4454;ExAC_FIN=0.1235;ExAC_NFE=0.1021;ExAC_OTH=0.1311;ExAC_SAS=0.1026;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,14:31:99:457,0,571 1 230423891 rs11122479 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e6015\x3bdist\x3e33501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4593;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2829;1000g2015aug_amr=0.2522;1000g2015aug_all=0.239816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 230423935 rs901672 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e6059\x3bdist\x3e33457;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs901672;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.2522;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 230423953 rs11122480 G C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e6077\x3bdist\x3e33439;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122480;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4583;1000g2015aug_sas=0.089;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2905;1000g2015aug_amr=0.2522;1000g2015aug_all=0.241613;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 230424130 rs6541311 T C 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.319;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e6254\x3bdist\x3e33262;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541311;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5466;1000g2015aug_sas=0.1462;1000g2015aug_eur=0.1342;1000g2015aug_afr=0.6188;1000g2015aug_amr=0.3228;1000g2015aug_all=0.373602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 230446556 rs12133061 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e28680\x3bdist\x3e10836;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12133061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.2217;1000g2015aug_afr=0.3555;1000g2015aug_amr=0.3343;1000g2015aug_all=0.351637;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 230449464 rs78301264 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e31588\x3bdist\x3e7928;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e885\x3bName\x3e"408969:AluJr4(SINE)";avsnp150=rs78301264;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.174;1000g2015aug_afr=0.1626;1000g2015aug_amr=0.2824;1000g2015aug_all=0.257388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 230450870 rs10746515 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e32994\x3bdist\x3e6522;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10746515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8303;1000g2015aug_eur=0.8628;1000g2015aug_afr=0.5507;1000g2015aug_amr=0.817;1000g2015aug_all=0.783347;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 230450968 rs10779842 A C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e33092\x3bdist\x3e6424;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779842;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9405;1000g2015aug_sas=0.8282;1000g2015aug_eur=0.8847;1000g2015aug_afr=0.6687;1000g2015aug_amr=0.8516;1000g2015aug_all=0.823283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 230451978 rs11122492 G A 397.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291866,NM_001258311;GeneDetail=dist\x3e34102\x3bdist\x3e5414;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9435;1000g2015aug_sas=0.817;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.8458;1000g2015aug_all=0.837859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:426,30,0 1 230458324 rs12089782 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=UTR3;Gene=NM_001258311;GeneDetail=NM_001258311:c.*847G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12089782;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0744;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.2655;1000g2015aug_amr=0.0533;1000g2015aug_all=0.11901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230458334 rs368415754 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=UTR3;Gene=NM_001258311;GeneDetail=NM_001258311:c.*837G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs368415754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.002;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000399361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230459476 rs12083735 C T 791.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.855;DP=46;ExcessHet=3.0103;FS=2.163;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=-1.89;SOR=1.758;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083735;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0754;1000g2015aug_sas=0.1022;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.2708;1000g2015aug_amr=0.0548;1000g2015aug_all=0.120807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,23:46:99:820,0,708 1 230460830 rs78334603 T C 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.75;ReadPosRankSum=0.732;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78334603;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0624;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.0231;1000g2015aug_all=0.0361422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,6:9:98:224,0,98 1 230468957 rs7414930 G T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7414930;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.372;1000g2015aug_sas=0.456;1000g2015aug_eur=0.501;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.4107;1000g2015aug_all=0.36242;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,102 1 230473103 rs10864744 A C 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.598;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=0.328;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.456;1000g2015aug_eur=0.501;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4078;1000g2015aug_all=0.371605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,12:18:99:345,0,162 1 230475395 rs56081528 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4063\x3bName\x3e"408994:L1MA8(LINE)";avsnp150=rs56081528;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5823;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.4811;1000g2015aug_afr=0.1982;1000g2015aug_amr=0.5202;1000g2015aug_all=0.444289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230497814 rs828477 A G 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.709;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e276\x3bName\x3e"409032:L2c(LINE)";avsnp150=rs828477;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.5083;1000g2015aug_amr=0.6182;1000g2015aug_all=0.56849;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,7:12:99:255,0,173 1 230497828 rs2003356 A G 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.47;DP=16;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.36;ReadPosRankSum=-1.249;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2003356;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.5076;1000g2015aug_amr=0.6182;1000g2015aug_all=0.568091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:402,0,343 1 230497829 rs882067 C A 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.929;DP=16;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.36;ReadPosRankSum=-1.249;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs882067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.666;1000g2015aug_afr=0.1241;1000g2015aug_amr=0.5504;1000g2015aug_all=0.427316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,10:16:99:402,0,343 1 230497844 rs828478 C G 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.212;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.785;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs828478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.6268;1000g2015aug_all=0.620407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:402,0,231 1 230497940 rs828479 G T 1030.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.042;DP=76;ExcessHet=3.0103;FS=8.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.183;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs828479;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.646;1000g2015aug_amr=0.6239;1000g2015aug_all=0.605032;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,34:76:99:1059,0,1183 1 230498232 rs2820384 C T 1034.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.022;DP=52;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.9;ReadPosRankSum=0.55;SOR=0.188;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820384;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5746;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.646;1000g2015aug_amr=0.6225;1000g2015aug_all=0.604832;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,31:52:99:1063,0,699 1 230503684 rs2632571 C T 647.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.235;DP=33;ExcessHet=3.0103;FS=1.639;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.112;SOR=1.123;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e232\x3bName\x3e"409040:MIRc(SINE)";avsnp150=rs2632571;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.5685;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.5994;1000g2015aug_all=0.541334;esp6500siv2_all=0.6435;ExAC_ALL=0.6779;ExAC_AFR=0.4882;ExAC_AMR=0.5446;ExAC_EAS=0.4962;ExAC_FIN=0.7678;ExAC_NFE=0.7504;ExAC_OTH=0.6951;ExAC_SAS=0.6342;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,21:33:99:676,0,300 1 230504070 rs2820377 C G 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-0.712;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820377;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.5736;1000g2015aug_eur=0.7187;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.6326;1000g2015aug_all=0.634585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,154 1 230508653 rs828455 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs828455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.736;1000g2015aug_amr=0.634;1000g2015aug_all=0.630192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230508667 rs2820371 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2820371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.736;1000g2015aug_amr=0.634;1000g2015aug_all=0.630192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230508672 rs2632565 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391860.5,ENST00000525115.1;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2632565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.7177;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.634;1000g2015aug_all=0.634784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230513128 rs828463 G A 713.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.003;DP=56;ExcessHet=3.0103;FS=2.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.096;SOR=1.199;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePGBD5;Func=intronic;Gene=NM_001258311;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525115.1,ENST00000391860.5;cytoBand=1q42.13;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs828463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.7167;1000g2015aug_afr=0.7436;1000g2015aug_amr=0.6326;1000g2015aug_all=0.63119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,25:56:99:742,0,793 1 230650802 rs10779843 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001258311,NR_146479;GeneDetail=dist\x3e89128\x3bdist\x3e77604;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1985\x3bName\x3e"409344:L1ME3A(LINE)";avsnp150=rs10779843;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.249;1000g2015aug_sas=0.2628;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.4092;1000g2015aug_all=0.455072;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 230707277 rs11122543 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001258311,NR_146479;GeneDetail=dist\x3e145603\x3bdist\x3e21129;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5397;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.5865;1000g2015aug_all=0.522764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 230713240 rs16841496 A C 114.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.98;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001258311,NR_146479;GeneDetail=dist\x3e151566\x3bdist\x3e15166;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e301\x3bName\x3e"409472:MIR(SINE)";avsnp150=rs16841496;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5526;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.5692;1000g2015aug_all=0.470447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:143,15,0 1 230778491 rs4846864 G C 3238.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.477;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366669.8,ENST00000366668.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4846864;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9504;1000g2015aug_sas=0.8364;1000g2015aug_eur=0.661;1000g2015aug_afr=0.8343;1000g2015aug_amr=0.8141;1000g2015aug_all=0.820487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3267,309,0 1 230795177 rs1359866 T C 1424.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000534989.1,ENST00000366669.8,ENST00000366668.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1359866;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8998;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.7731;1000g2015aug_amr=0.7363;1000g2015aug_all=0.755791;esp6500siv2_all=0.6546;ExAC_ALL=0.6775;ExAC_AFR=0.7515;ExAC_AMR=0.7858;ExAC_EAS=0.9178;ExAC_FIN=0.6288;ExAC_NFE=0.5997;ExAC_OTH=0.6515;ExAC_SAS=0.7653;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1453,143,0 1 230796326 rs3736983 A G 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.834;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000534989.1,ENST00000366668.7,ENST00000366669.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736983;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1766;1000g2015aug_sas=0.1472;1000g2015aug_eur=0.1978;1000g2015aug_afr=0.0129;1000g2015aug_amr=0.2666;1000g2015aug_all=0.144369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 230796375 rs3736982 A C 332.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.367;DP=19;ExcessHet=3.0103;FS=6.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=2.206;SOR=2.891;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000534989.1,ENST00000366668.7,ENST00000366669.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736982;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4365;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.3328;1000g2015aug_amr=0.2176;1000g2015aug_all=0.323283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:361,0,250 1 230820605 rs2296797 G T 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.645;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366668.7,ENST00000366669.8,ENST00000534989.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5972;1000g2015aug_sas=0.32;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.2466;1000g2015aug_amr=0.438;1000g2015aug_all=0.350839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 230820630 rs2296798 G A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.231;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366669.8,ENST00000366668.7,ENST00000534989.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2296798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2867;1000g2015aug_sas=0.3129;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.4917;1000g2015aug_amr=0.2839;1000g2015aug_all=0.352236;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 230822607 rs1536591 G A 119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.262;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=2.26;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000534989.1,ENST00000366669.8,ENST00000366668.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1536591;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.6442;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.5202;1000g2015aug_all=0.597444;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:148,0,116 1 230825447 rs10864768 T C 46.8 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=intronic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000534989.1,ENST00000366668.7,ENST00000366669.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e516\x3bName\x3e"409661:MER5A1(DNA)";avsnp150=rs10864768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6002;1000g2015aug_sas=0.3241;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.2474;1000g2015aug_amr=0.438;1000g2015aug_all=0.352436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:21:75,0,21 1 230829139 rs1051038 A G 1088.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.751;DP=76;ExcessHet=3.0103;FS=1.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.225;SOR=1.005;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCOG2;Func=exonic;Gene=NM_001145036,NM_007357;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=COG2:NM_001145036:exon18:c.A2214G:p.X738X,COG2:NM_007357:exon18:c.A2217G:p.X739X;Gencode=Name\x3eENST00000366668.7,ENST00000366669.8,ENST00000534989.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051038;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.3149;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.4352;1000g2015aug_all=0.344649;esp6500siv2_all=0.2136;ExAC_ALL=0.2897;ExAC_AFR=0.2168;ExAC_AMR=0.5606;ExAC_EAS=0.5872;ExAC_FIN=0.2767;ExAC_NFE=0.2161;ExAC_OTH=0.2705;ExAC_SAS=0.2938;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,42:76:99:1117,0,907 1 230840096 rs1926723 T C 427.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.329;DP=34;ExcessHet=3.0103;FS=1.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.7;SOR=0.277;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=intronic;Gene=NM_000029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1926723;cosmic70=.;CLNALLELEID=281116;CLNDN=Renal_dysplasia;CLNDISDB=Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3472;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0461;1000g2015aug_amr=0.1354;1000g2015aug_all=0.133187;esp6500siv2_all=0.0670;ExAC_ALL=0.1107;ExAC_AFR=0.0428;ExAC_AMR=0.2364;ExAC_EAS=0.3403;ExAC_FIN=0.0555;ExAC_NFE=0.0788;ExAC_OTH=0.0930;ExAC_SAS=0.0958;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:456,0,589 1 230840197 rs1926722 C A 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.328;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=intronic;Gene=NM_000029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1926722;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3413;1000g2015aug_sas=0.0992;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.1354;1000g2015aug_all=0.131589;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:142,0,100 1 230841509 rs2478523 A G 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.925;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.835;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=intronic;Gene=NM_000029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2478523;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.8752;1000g2015aug_amr=0.5403;1000g2015aug_all=0.585863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,9:22:99:310,0,463 1 230841687 rs7080 T C 6365.77 PASS AC=2;AF=1;AN=2;DP=195;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=1.251;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=exonic;Gene=NM_000029;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=AGT:NM_000029:exon3:c.A1116G:p.L372L;Gencode=Name\x3eENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7080;cosmic70=.;CLNALLELEID=249765;CLNDN=Renal_dysplasia|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9867;1000g2015aug_eur=0.9155;1000g2015aug_afr=0.9962;1000g2015aug_amr=0.951;1000g2015aug_all=0.972644;esp6500siv2_all=0.9409;ExAC_ALL=0.9441;ExAC_AFR=0.9870;ExAC_AMR=0.9691;ExAC_EAS=1;ExAC_FIN=0.9484;ExAC_NFE=0.9161;ExAC_OTH=0.9470;ExAC_SAS=0.9814;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,194:194:99:6394,582,0 1 230845794 rs699 A G 3428.77 PASS AC=2;AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.946;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=exonic;Gene=NM_000029;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=AGT:NM_000029:exon2:c.T803C:p.M268T;Gencode=Name\x3eENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs699;cosmic70=.;CLNALLELEID=33107;CLNDN=Hypertension,_essential,_susceptibility_to|Preeclampsia,_susceptibility_to|Renal_dysplasia|Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy|not_specified;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001|MedGen:C1862886|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8532;1000g2015aug_sas=0.636;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.9032;1000g2015aug_amr=0.6354;1000g2015aug_all=0.705072;esp6500siv2_all=0.5617;ExAC_ALL=0.5484;ExAC_AFR=0.8447;ExAC_AMR=0.7416;ExAC_EAS=0.8378;ExAC_FIN=0.4356;ExAC_NFE=0.4243;ExAC_OTH=0.5187;ExAC_SAS=0.6229;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.878;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.735;MutationAssessor_pred=N;FATHMM_score=-2.16;FATHMM_pred=D;phyloP100way_vertebrate=0.514;phyloP20way_mammalian=-1.013;SiPhy_29way_logOdds=5.255;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,104:104:99:3457,312,0 1 230846679 rs11122576 T C 409.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.289;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-1.055;SOR=0.573;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=intronic;Gene=NM_000029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000366667.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3492;1000g2015aug_sas=0.1012;1000g2015aug_eur=0.0686;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.1441;1000g2015aug_all=0.137181;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,14:26:99:438,0,350 1 230848702 rs2004776 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eAGT;Func=intronic;Gene=NM_000029;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366667.4,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2004776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5764;1000g2015aug_sas=0.3793;1000g2015aug_eur=0.2256;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.3329;1000g2015aug_all=0.410144;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 230867821 rs10864776 C T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_000029,NM_001319676;GeneDetail=dist\x3e17485\x3bdist\x3e15309;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e214\x3bName\x3e"409738:L2a(LINE)";avsnp150=rs10864776;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1796;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.2194;1000g2015aug_amr=0.0922;1000g2015aug_all=0.169928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 230883466 rs12143120 C T 2080.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.764;DP=147;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.435;SOR=0.689;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12143120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3313;1000g2015aug_sas=0.2771;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.3646;1000g2015aug_amr=0.4294;1000g2015aug_all=0.363219;esp6500siv2_all=0.3930;ExAC_ALL=0.3876;ExAC_AFR=0.3751;ExAC_AMR=0.4222;ExAC_EAS=0.3285;ExAC_FIN=0.4661;ExAC_NFE=0.4082;ExAC_OTH=0.3789;ExAC_SAS=0.2886;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:61,85:146:99:2109,0,1461 1 230883484 rs6690251 T C 2053.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.835;DP=133;ExcessHet=3.0103;FS=0.695;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.321;SOR=0.607;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.3415;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.5937;1000g2015aug_all=0.494808;esp6500siv2_all=0.6102;ExAC_ALL=0.5853;ExAC_AFR=0.5217;ExAC_AMR=0.5416;ExAC_EAS=0.3452;ExAC_FIN=0.6882;ExAC_NFE=0.6722;ExAC_OTH=0.5725;ExAC_SAS=0.3890;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:52,80:132:99:2082,0,1284 1 230883499 rs6690254 T C 1867.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.875;DP=109;ExcessHet=3.0103;FS=0.852;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.389;SOR=0.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000271971.6,ENST00000354537.1,ENST00000366666.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6690254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.3425;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.5922;1000g2015aug_all=0.495008;esp6500siv2_all=0.6092;ExAC_ALL=0.5842;ExAC_AFR=0.5203;ExAC_AMR=0.5407;ExAC_EAS=0.3434;ExAC_FIN=0.6877;ExAC_NFE=0.6716;ExAC_OTH=0.5676;ExAC_SAS=0.3887;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,65:109:99:1896,0,1102 1 230883656 rs4078405 C G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.598;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000366666.6,ENST00000354537.1,ENST00000271971.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4078405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.7127;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.5908;1000g2015aug_all=0.49381;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:95:107,0,95 1 230883704 rs4078404 C T 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000271971.6,ENST00000354537.1,ENST00000366666.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4078404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3552;1000g2015aug_sas=0.3395;1000g2015aug_eur=0.7137;1000g2015aug_afr=0.4947;1000g2015aug_amr=0.5908;1000g2015aug_all=0.49361;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,101 1 230891248 rs2493145 C T 145.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.389;DP=14;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-1.539;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000271971.6,ENST00000354537.1,ENST00000366666.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493145;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1657;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.4222;1000g2015aug_all=0.30611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:174,0,290 1 230891333 rs2493146 C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2493146;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4294;1000g2015aug_eur=0.4761;1000g2015aug_afr=0.5764;1000g2015aug_amr=0.5432;1000g2015aug_all=0.502796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 230895340 rs28359608 C A 287.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.355;DP=25;ExcessHet=3.0103;FS=3.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.411;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=exonic;Gene=NM_006615,NM_016452;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN9:NM_006615:exon3:c.C366A:p.S122R,CAPN9:NM_016452:exon3:c.C366A:p.S122R;Gencode=Name\x3eENST00000366666.6,ENST00000271971.6,ENST00000354537.1,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28359608;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0764;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.1451;1000g2015aug_afr=0.174;1000g2015aug_amr=0.0648;1000g2015aug_all=0.154752;esp6500siv2_all=0.1487;ExAC_ALL=0.1536;ExAC_AFR=0.1647;ExAC_AMR=0.0531;ExAC_EAS=0.0755;ExAC_FIN=0.2274;ExAC_NFE=0.1417;ExAC_OTH=0.1347;ExAC_SAS=0.2784;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.21;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.126;Polyphen2_HVAR_pred=B;LRT_score=0.043;LRT_pred=N;MutationTaster_score=0.046;MutationTaster_pred=P;MutationAssessor_score=2.9;MutationAssessor_pred=M;FATHMM_score=-2.48;FATHMM_pred=D;phyloP100way_vertebrate=0.716;phyloP20way_mammalian=-1.041;SiPhy_29way_logOdds=4.613;gerp++gt2=.;CADD=2.866;CADD_Phred=21.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,11:25:99:316,0,407 1 230898231 rs2282318 T A 256.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.995;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-2.535;SOR=0.646;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000366666.6,ENST00000271971.6,ENST00000354537.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.34;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.304;1000g2015aug_all=0.226038;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,9:30:99:285,0,753 1 230898494 rs2282319 C T 1638.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.494;DP=140;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.157;SOR=0.723;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=exonic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAPN9:NM_001319676:exon2:c.C309T:p.N103N,CAPN9:NM_006615:exon4:c.C498T:p.N166N,CAPN9:NM_016452:exon4:c.C498T:p.N166N;Gencode=Name\x3eENST00000366666.6,ENST00000271971.6,ENST00000354537.1,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282319;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4385;1000g2015aug_sas=0.1789;1000g2015aug_eur=0.3797;1000g2015aug_afr=0.2716;1000g2015aug_amr=0.4452;1000g2015aug_all=0.332867;esp6500siv2_all=0.3373;ExAC_ALL=0.3475;ExAC_AFR=0.2688;ExAC_AMR=0.4525;ExAC_EAS=0.4435;ExAC_FIN=0.3316;ExAC_NFE=0.3742;ExAC_OTH=0.3381;ExAC_SAS=0.1725;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:74,65:139:99:1667,0,2129 1 230898737 rs2282320 G C 189.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=1.063;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000354537.1,ENST00000271971.6,ENST00000366666.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282320;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2004;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0658;1000g2015aug_amr=0.2968;1000g2015aug_all=0.192093;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,176 1 230903234 rs11122590 A G 693.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366666.6,ENST00000354537.1,ENST00000271971.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.5278;1000g2015aug_afr=0.6331;1000g2015aug_amr=0.5259;1000g2015aug_all=0.555112;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:722,57,0 1 230903350 rs3828126 T C 706.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.233;DP=61;ExcessHet=3.0103;FS=3.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.051;SOR=1.145;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=exonic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CAPN9:NM_001319676:exon3:c.T411C:p.T137T,CAPN9:NM_006615:exon5:c.T600C:p.T200T,CAPN9:NM_016452:exon5:c.T600C:p.T200T;Gencode=Name\x3eENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3828126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.337;1000g2015aug_afr=0.1959;1000g2015aug_amr=0.2939;1000g2015aug_all=0.224641;esp6500siv2_all=0.2826;ExAC_ALL=0.2697;ExAC_AFR=0.1924;ExAC_AMR=0.2543;ExAC_EAS=0.1855;ExAC_FIN=0.2999;ExAC_NFE=0.3260;ExAC_OTH=0.2742;ExAC_SAS=0.1334;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,27:61:99:735,0,884 1 230904911 rs11122593 C T 1379.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.443;DP=91;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.044;SOR=0.747;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000354537.1,ENST00000271971.6,ENST00000366666.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122593;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.123;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0159;1000g2015aug_amr=0.2925;1000g2015aug_all=0.153554;esp6500siv2_all=0.2421;ExAC_ALL=0.2521;ExAC_AFR=0.0561;ExAC_AMR=0.2452;ExAC_EAS=0.1077;ExAC_FIN=0.3105;ExAC_NFE=0.3336;ExAC_OTH=0.2533;ExAC_SAS=0.1005;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,48:91:99:1408,0,1200 1 230914612 rs12130847 A G 813.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.244;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.51;SOR=0.793;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000428480.1,ENST00000452640.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12130847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.34;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2925;1000g2015aug_all=0.153355;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,31:60:99:842,0,783 1 230914729 rs1933631 A C 1027.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.115;DP=75;ExcessHet=3.0103;FS=1.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.678;SOR=0.468;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=exonic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=CAPN9:NM_001319676:exon7:c.A775C:p.K259Q,CAPN9:NM_016452:exon8:c.A886C:p.K296Q,CAPN9:NM_006615:exon9:c.A964C:p.K322Q;Gencode=Name\x3eENST00000428480.1,ENST00000452640.1,ENST00000366666.6,ENST00000271971.6,ENST00000354537.1,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1933631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1875;1000g2015aug_sas=0.501;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.3888;1000g2015aug_amr=0.2075;1000g2015aug_all=0.33127;esp6500siv2_all=0.3409;ExAC_ALL=0.3374;ExAC_AFR=0.3823;ExAC_AMR=0.2105;ExAC_EAS=0.1817;ExAC_FIN=0.4137;ExAC_NFE=0.3223;ExAC_OTH=0.3420;ExAC_SAS=0.5099;SIFT_score=0.752;SIFT_pred=T;Polyphen2_HDIV_score=0.017;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_pred=B;LRT_score=0.625;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.655;MutationAssessor_pred=N;FATHMM_score=2.41;FATHMM_pred=T;phyloP100way_vertebrate=1.527;phyloP20way_mammalian=1.199;SiPhy_29way_logOdds=2.078;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,38:75:99:1056,0,1004 1 230915818 rs79410167 G C 182.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.907;SOR=0.425;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366666.6,ENST00000354537.1,ENST00000271971.6,ENST00000412344.1,ENST00000428480.1,ENST00000452640.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e49\x3bName\x3e"409836:(GT)n(Simple_repeat)";avsnp150=rs79410167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.0169;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0086;1000g2015aug_all=0.00579073;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:211,0,393 1 230922001 rs11122602 G C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=1.834;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000452640.1,ENST00000428480.1,ENST00000366666.6,ENST00000354537.1,ENST00000271971.6,ENST00000412344.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.0808;1000g2015aug_eur=0.341;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.2896;1000g2015aug_all=0.153155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 230927353 rs6671302 T A 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.437;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000366666.6,ENST00000271971.6,ENST00000354537.1,ENST00000428480.1,ENST00000452640.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e489\x3bName\x3e"409853:L1ME4a(LINE)";avsnp150=rs6671302;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.5272;1000g2015aug_amr=0.5951;1000g2015aug_all=0.48742;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,218 1 230927871 rs1933635 T C 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.642;DP=22;ExcessHet=3.0103;FS=7.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.434;SOR=2.111;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000271971.6,ENST00000354537.1,ENST00000366666.6,ENST00000452640.1,ENST00000428480.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1933635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2817;1000g2015aug_sas=0.4519;1000g2015aug_eur=0.5994;1000g2015aug_afr=0.559;1000g2015aug_amr=0.6023;1000g2015aug_all=0.496406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,13:22:99:373,0,225 1 230928351 rs2282321 C T 920.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.815;DP=54;ExcessHet=3.0103;FS=4.418;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=0.035;SOR=0.239;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000428480.1,ENST00000452640.1,ENST00000412344.1,ENST00000366666.6,ENST00000354537.1,ENST00000271971.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282321;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1716;1000g2015aug_sas=0.2965;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1604;1000g2015aug_amr=0.3314;1000g2015aug_all=0.259385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:25,29:54:99:949,0,767 1 230928512 rs7522057 C G 924.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.197;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.268;SOR=0.673;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412344.1,ENST00000366666.6,ENST00000271971.6,ENST00000354537.1,ENST00000452640.1,ENST00000428480.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7522057;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2778;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.3946;1000g2015aug_afr=0.4622;1000g2015aug_amr=0.3674;1000g2015aug_all=0.419728;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,33:61:99:953,0,816 1 230933898 rs2297831 C T 1056.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.551;DP=68;ExcessHet=3.0103;FS=2.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=1.054;SOR=0.441;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCAPN9;Func=intronic;Gene=NM_001319676,NM_006615,NM_016452;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366666.6,ENST00000271971.6,ENST00000354537.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1131;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.255;1000g2015aug_all=0.122604;esp6500siv2_all=0.1827;ExAC_ALL=0.1957;ExAC_AFR=0.0582;ExAC_AMR=0.2325;ExAC_EAS=0.1041;ExAC_FIN=0.2648;ExAC_NFE=0.2519;ExAC_OTH=0.2;ExAC_SAS=0.0484;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,39:68:99:1085,0,723 1 230975454 rs1202550 A G 188.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf198;Func=UTR3;Gene=NM_001136494,NM_001136495,NM_032800;GeneDetail=NM_001136494:c.*144T>C\x3bNM_001136495:c.*144T>C\x3bNM_032800:c.*144T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000523410.1,ENST00000427697.2,ENST00000366663.9,ENST00000470540.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1202550;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.909;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.5318;1000g2015aug_amr=0.7925;1000g2015aug_all=0.75639;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:217,18,0 1 230979657 rs41314280 G A 412.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.354;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.302;SOR=0.791;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf198;Func=intronic;Gene=NM_001136494,NM_001136495,NM_032800;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000523410.1,ENST00000427697.2,ENST00000366663.9,ENST00000470540.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41314280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4067;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.1759;1000g2015aug_afr=0.0325;1000g2015aug_amr=0.1196;1000g2015aug_all=0.185703;esp6500siv2_all=0.1341;ExAC_ALL=0.1980;ExAC_AFR=0.0579;ExAC_AMR=0.1276;ExAC_EAS=0.3940;ExAC_FIN=0.2637;ExAC_NFE=0.1927;ExAC_OTH=0.1816;ExAC_SAS=0.2268;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:441,0,623 1 230991682 rs11805491 C T 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.366;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf198;Func=UTR5;Gene=NM_001136495;GeneDetail=NM_001136495:c.-12046G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000523410.1,ENST00000366663.9,ENST00000427697.2,ENST00000470540.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11805491;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0123;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.0476;1000g2015aug_all=0.113419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:171,0,62 1 231003851 rs11122619 G C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf198;Func=intronic;Gene=NM_001136494,NM_032800;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366663.9,ENST00000427697.2,ENST00000470540.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122619;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4613;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.1352;1000g2015aug_afr=0.0764;1000g2015aug_amr=0.121;1000g2015aug_all=0.201877;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 231042732 rs3811502 T A 382.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.804;DP=27;ExcessHet=3.0103;FS=5.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.343;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=exonic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTC13:NM_001122835:exon21:c.A2340T:p.V780V,TTC13:NM_024525:exon23:c.A2502T:p.V834V;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3811502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.5338;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.6556;1000g2015aug_all=0.515575;esp6500siv2_all=0.4820;ExAC_ALL=0.5364;ExAC_AFR=0.4029;ExAC_AMR=0.7120;ExAC_EAS=0.5319;ExAC_FIN=0.6083;ExAC_NFE=0.5275;ExAC_OTH=0.5222;ExAC_SAS=0.5056;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,15:27:99:411,0,284 1 231051655 rs12758294 C A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12758294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.169;1000g2015aug_afr=0.1233;1000g2015aug_amr=0.1182;1000g2015aug_all=0.211062;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 231057310 rs2275334 C T 50.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.319;SOR=0.916;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275334;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5903;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.668;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7767;1000g2015aug_all=0.664537;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:79,0,30 1 231059784 rs3748774 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.732;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3748774;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5923;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.668;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7767;1000g2015aug_all=0.664936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,221 1 231064546 rs1343674 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e630\x3bName\x3e"410093:FAM(SINE)";avsnp150=rs1343674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.8814;1000g2015aug_eur=0.8439;1000g2015aug_afr=0.9198;1000g2015aug_amr=0.9092;1000g2015aug_all=0.907348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 231069652 rs1890351 A C 180.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.02;DP=14;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.137;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1890351;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.6074;1000g2015aug_eur=0.668;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7767;1000g2015aug_all=0.664736;esp6500siv2_all=0.6817;ExAC_ALL=0.6788;ExAC_AFR=0.6819;ExAC_AMR=0.7943;ExAC_EAS=0.5760;ExAC_FIN=0.7233;ExAC_NFE=0.6831;ExAC_OTH=0.6454;ExAC_SAS=0.6112;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:209,0,258 1 231076177 rs6671389 A G 730.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.361;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.263;SOR=0.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6671389;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.0288;1000g2015aug_all=0.0617013;esp6500siv2_all=0.0757;ExAC_ALL=0.0353;ExAC_AFR=0.1754;ExAC_AMR=0.0204;ExAC_EAS=0;ExAC_FIN=0.0232;ExAC_NFE=0.0280;ExAC_OTH=0.0253;ExAC_SAS=0.0104;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,29:56:99:759,0,711 1 231079381 rs6541239 A G 389.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6541239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9782;1000g2015aug_sas=0.865;1000g2015aug_eur=0.838;1000g2015aug_afr=0.8389;1000g2015aug_amr=0.8948;1000g2015aug_all=0.879593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:418,30,0 1 231091972 rs12044966 C T 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.399;DP=23;ExcessHet=3.0103;FS=1.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.59;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12044966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2321;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.337;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.3314;1000g2015aug_all=0.379393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:212,0,348 1 231092180 rs11122161 G A 547.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.018;DP=40;ExcessHet=3.0103;FS=2.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.257;SOR=1.27;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e300\x3bName\x3e"410139:MIRc(SINE)";avsnp150=rs11122161;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4097;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.332;1000g2015aug_afr=0.3086;1000g2015aug_amr=0.2248;1000g2015aug_all=0.339657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,24:40:99:576,0,344 1 231093879 rs111482076 C G 482.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.321;DP=35;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.436;SOR=1.356;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs111482076;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.1672;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0551118;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,18:35:99:511,0,454 1 231097042 rs11122162 G A 1373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.532;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.641;SOR=0.79;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=exonic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TTC13:NM_001122835:exon2:c.C279T:p.S93S,TTC13:NM_024525:exon2:c.C279T:p.S93S;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122162;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0553115;esp6500siv2_all=0.0639;ExAC_ALL=0.0358;ExAC_AFR=0.1547;ExAC_AMR=0.0216;ExAC_EAS=0;ExAC_FIN=0.0259;ExAC_NFE=0.0306;ExAC_OTH=0.0284;ExAC_SAS=0.0119;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,55:94:99:1402,0,973 1 231097194 rs11122163 G A 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.1;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e535\x3bName\x3e"410150:FLAM_C(SINE)";avsnp150=rs11122163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0288;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.0274;1000g2015aug_all=0.0553115;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 231106744 rs7536772 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7536772;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6647;1000g2015aug_sas=0.8323;1000g2015aug_eur=0.7147;1000g2015aug_afr=0.8533;1000g2015aug_amr=0.5893;1000g2015aug_all=0.746805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 231106819 rs35610408 C T 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=intronic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2620\x3bName\x3e"410175:AluY(SINE)";avsnp150=rs35610408;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3919;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.1729;1000g2015aug_all=0.257188;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 231114420 rs114508011 A C 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=exonic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTC13:NM_001122835:exon1:c.T157G:p.S53A,TTC13:NM_024525:exon1:c.T157G:p.S53A;Gencode=Name\x3eENST00000366661.8,ENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114508011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.002;1000g2015aug_sas=0.0358;1000g2015aug_eur=0.0388;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0144;1000g2015aug_all=0.0189696;esp6500siv2_all=.;ExAC_ALL=0.0486;ExAC_AFR=0.0402;ExAC_AMR=0.0476;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0.0535;ExAC_OTH=0.0196;ExAC_SAS=0.0486;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.062;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.034;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.503;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=0.72;FATHMM_pred=T;phyloP100way_vertebrate=2.120;phyloP20way_mammalian=0.894;SiPhy_29way_logOdds=11.708;gerp++gt2=4.05;CADD=2.594;CADD_Phred=20.2;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 231114465 rs76376323 C G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=exonic;Gene=NM_001122835,NM_024525;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TTC13:NM_001122835:exon1:c.G112C:p.G38R,TTC13:NM_024525:exon1:c.G112C:p.G38R;Gencode=Name\x3eENST00000366662.8,ENST00000366661.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76376323;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.1498;1000g2015aug_amr=0.1729;1000g2015aug_all=0.257188;esp6500siv2_all=.;ExAC_ALL=0.3475;ExAC_AFR=0.2273;ExAC_AMR=0.375;ExAC_EAS=0.4016;ExAC_FIN=0.5;ExAC_NFE=0.3078;ExAC_OTH=0.2545;ExAC_SAS=0.3640;SIFT_score=0.067;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.717;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.86;FATHMM_pred=T;phyloP100way_vertebrate=1.703;phyloP20way_mammalian=0.705;SiPhy_29way_logOdds=9.700;gerp++gt2=2.82;CADD=2.117;CADD_Phred=16.97;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 231114595 rs11122174 C T 105.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTTC13;Func=UTR5;Gene=NM_001122835,NM_024525;GeneDetail=NM_001122835:c.-19G>A\x3bNM_024525:c.-19G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366662.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11122174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.4274;1000g2015aug_afr=0.4183;1000g2015aug_amr=0.3631;1000g2015aug_all=0.511182;esp6500siv2_all=.;ExAC_ALL=0.6487;ExAC_AFR=0.5280;ExAC_AMR=0.6222;ExAC_EAS=0.6939;ExAC_FIN=0.5;ExAC_NFE=0.5302;ExAC_OTH=0.6;ExAC_SAS=0.7142;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:133,12,0 1 231124055 rs10779804 T C 144.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.62;DP=17;ExcessHet=3.0103;FS=2.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.147;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARV1;Func=intronic;Gene=NM_001346992,NM_022786;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310256.6,ENST00000366658.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10779804;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.4959;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.3139;1000g2015aug_amr=0.232;1000g2015aug_all=0.384784;esp6500siv2_all=0.3381;ExAC_ALL=0.3587;ExAC_AFR=0.3375;ExAC_AMR=0.2165;ExAC_EAS=0.5387;ExAC_FIN=0.2645;ExAC_NFE=0.3368;ExAC_OTH=0.3833;ExAC_SAS=0.5022;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:173,0,298 1 231125686 rs12024261 A T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARV1;Func=intronic;Gene=NM_001346992,NM_022786;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366658.6,ENST00000310256.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e241\x3bName\x3e"410214:MER5B(DNA)";avsnp150=rs12024261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.149;1000g2015aug_amr=0.1729;1000g2015aug_all=0.257388;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:78,0,69 1 231126172 rs10864648 T G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.036;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARV1;Func=intronic;Gene=NM_001346992,NM_022786;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000310256.6,ENST00000366658.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864648;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5129;1000g2015aug_sas=0.4969;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.2973;1000g2015aug_amr=0.232;1000g2015aug_all=0.380591;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 231156029 rs10864654 A G 669.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.571;DP=32;ExcessHet=3.0103;FS=3.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=0.403;SOR=2.348;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM89A;Func=intronic;Gene=NM_198552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366654.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10864654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3621;1000g2015aug_sas=0.2474;1000g2015aug_eur=0.5149;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.5533;1000g2015aug_all=0.325479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,19:32:99:698,0,369 1 231156073 rs7513011 T A 108.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.242;SOR=0.412;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM89A;Func=intronic;Gene=NM_198552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366654.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513011;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5833;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.8757;1000g2015aug_afr=0.9107;1000g2015aug_amr=0.8761;1000g2015aug_all=0.820088;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,208 1 231157721 rs4311872 T C 967.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.662;DP=67;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.176;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM89A;Func=intronic;Gene=NM_198552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366654.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4311872;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.5934;1000g2015aug_afr=0.3926;1000g2015aug_amr=0.5807;1000g2015aug_all=0.436302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,36:67:99:996,0,787 1 231162072 rs4133249 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFAM89A;Func=intronic;Gene=NM_198552;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366654.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4133249;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4901;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.6596;1000g2015aug_amr=0.7032;1000g2015aug_all=0.610024;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,143 1 231186341 rs11122205 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198552,NM_001300889;GeneDetail=dist\x3e10346\x3bdist\x3e112333;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7640\x3bName\x3e"410317:Tigger3b(DNA)";avsnp150=rs11122205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.4222;1000g2015aug_all=0.370208;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 231186593 rs6686989 A G 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_198552,NM_001300889;GeneDetail=dist\x3e10598\x3bdist\x3e112081;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e7640\x3bName\x3e"410317:Tigger3b(DNA)";avsnp150=rs6686989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7411;1000g2015aug_sas=0.7485;1000g2015aug_eur=0.8728;1000g2015aug_afr=0.6785;1000g2015aug_amr=0.8069;1000g2015aug_all=0.761581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 231363000 rs16854012 A G 231.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.426;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.07;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eC1orf131;Func=intronic;Gene=NM_001300830,NM_152379;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318906.6,ENST00000366651.7,ENST00000366649.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16854012;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2937;1000g2015aug_sas=0.1544;1000g2015aug_eur=0.0895;1000g2015aug_afr=0.0091;1000g2015aug_amr=0.1945;1000g2015aug_all=0.136581;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,11:21:99:260,0,240 1 231396176 rs532091371 A C 154.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.262;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.19;ReadPosRankSum=-0.787;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNPAT;Func=intronic;Gene=NM_001316350,NM_014236;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366647.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs532091371;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,7:25:99:183,0,574 1 231454367 rs139144990 A T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_014236,NM_175876;GeneDetail=dist\x3e40648\x3bdist\x3e14110;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139144990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=0.000199681;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 231480507 rs1009227 A G 161.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRTN;Func=intronic;Gene=NM_001010984,NM_001261462,NM_032018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391858.8,ENST00000295050.11,ENST00000008440.9;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1009227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.663;1000g2015aug_afr=0.3623;1000g2015aug_amr=0.5187;1000g2015aug_all=0.520168;esp6500siv2_all=.;ExAC_ALL=0.6169;ExAC_AFR=0.4084;ExAC_AMR=0.5568;ExAC_EAS=0.5597;ExAC_FIN=0.7119;ExAC_NFE=0.6490;ExAC_OTH=0.6319;ExAC_SAS=0.6010;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:190,21,0 1 231486908 rs2749716 T C 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRTN;Func=intronic;Gene=NM_001010984,NM_001261462,NM_032018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295050.11,ENST00000008440.9,ENST00000391858.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2749716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.663;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5259;1000g2015aug_all=0.5623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 231486989 rs2474633 A C 915.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.738;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.71;ReadPosRankSum=-1.054;SOR=2.376;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRTN;Func=intronic;Gene=NM_001010984,NM_001261462,NM_032018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000295050.11,ENST00000008440.9,ENST00000391858.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2474633;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.663;1000g2015aug_afr=0.5212;1000g2015aug_amr=0.5259;1000g2015aug_all=0.562101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,27:28:74:944,74,0 1 231487017 rs2474634 T C 1780.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=3.014;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRTN;Func=intronic;Gene=NM_001010984,NM_001261462,NM_032018;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000391858.8,ENST00000008440.9,ENST00000295050.11;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2474634;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5308;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.663;1000g2015aug_afr=0.407;1000g2015aug_amr=0.5216;1000g2015aug_all=0.53135;esp6500siv2_all=0.5774;ExAC_ALL=0.6108;ExAC_AFR=0.4199;ExAC_AMR=0.4938;ExAC_EAS=0.5801;ExAC_FIN=0.7048;ExAC_NFE=0.6589;ExAC_OTH=0.6188;ExAC_SAS=0.5895;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1809,155,0 1 231488524 rs2437150 C T 2022.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.15;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSPRTN;Func=exonic;Gene=NM_032018;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=SPRTN:NM_032018:exon5:c.C887T:p.P296L;Gencode=Name\x3eENST00000391858.8,ENST00000295050.11;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2437150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5248;1000g2015aug_sas=0.5532;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.4402;1000g2015aug_amr=0.5216;1000g2015aug_all=0.532947;esp6500siv2_all=0.5793;ExAC_ALL=0.5988;ExAC_AFR=0.4535;ExAC_AMR=0.4902;ExAC_EAS=0.5722;ExAC_FIN=0.6953;ExAC_NFE=0.6430;ExAC_OTH=0.6114;ExAC_SAS=0.5619;SIFT_score=0.293;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.514;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=0.149;phyloP20way_mammalian=-0.317;SiPhy_29way_logOdds=1.827;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:2051,162,0 1 231502245 rs1435167 T A 229.77 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.53;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEGLN1;Func=intronic;Gene=NM_022051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366641.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1435167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.4356;1000g2015aug_eur=0.5288;1000g2015aug_afr=0.3464;1000g2015aug_amr=0.428;1000g2015aug_all=0.429712;esp6500siv2_all=0.4337;ExAC_ALL=0.4246;ExAC_AFR=0.3317;ExAC_AMR=0.3707;ExAC_EAS=0.4147;ExAC_FIN=0.4618;ExAC_NFE=0.4485;ExAC_OTH=0.4338;ExAC_SAS=0.4125;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:25:230,25,0 1 231502310 rs1435166 T C 417.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.11;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEGLN1;Func=intronic;Gene=NM_022051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366641.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1435166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.5086;1000g2015aug_all=0.471246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:446,48,0 1 231506557 rs2256908 G A 598.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.8;SOR=5.549;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEGLN1;Func=intronic;Gene=NM_022051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366641.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2256908;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.662;1000g2015aug_afr=0.2632;1000g2015aug_amr=0.5144;1000g2015aug_all=0.492812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:627,45,0 1 231520523 rs2486737 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEGLN1;Func=intronic;Gene=NM_022051;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366641.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e849\x3bName\x3e"411007:MER58A(DNA)";avsnp150=rs2486737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5327;1000g2015aug_sas=0.5726;1000g2015aug_eur=0.662;1000g2015aug_afr=0.2625;1000g2015aug_amr=0.5159;1000g2015aug_all=0.492812;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 231664607 rs41303127 C T 2642.77 PASS AC=2;AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398,NR_028399,NR_028400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602962.5,ENST00000366639.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41303127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0625;1000g2015aug_sas=0.1861;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.0257;1000g2015aug_amr=0.1614;1000g2015aug_all=0.138379;esp6500siv2_all=0.2198;ExAC_ALL=0.2373;ExAC_AFR=0.0506;ExAC_AMR=0.1189;ExAC_EAS=0.0509;ExAC_FIN=0.3376;ExAC_NFE=0.3059;ExAC_OTH=0.2704;ExAC_SAS=0.2169;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,83:83:99:2671,249,0 1 231727447 rs1655305 A G 2858.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00582,TSNAX-DISC1;Func=ncRNA_exonic;Gene=NR_034037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448058.1,ENST00000602962.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7629;1000g2015aug_sas=0.68;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.472;1000g2015aug_amr=0.4885;1000g2015aug_all=0.605831;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:2887,264,0 1 231732123 rs1655300 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,LINC00582;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398,NR_028399,NR_028400,NR_034037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448058.1,ENST00000602962.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655300;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1925;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.3444;1000g2015aug_all=0.354233;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 231732161 rs1655299 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLINC00582,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398,NR_028399,NR_028400,NR_034037;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000448058.1,ENST00000602962.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1655299;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1935;1000g2015aug_sas=0.5102;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.3458;1000g2015aug_all=0.355232;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 231747989 rs7548847 G A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398,NR_028399,NR_028400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602962.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548847;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1994;1000g2015aug_sas=0.5613;1000g2015aug_eur=0.674;1000g2015aug_afr=0.3669;1000g2015aug_amr=0.5245;1000g2015aug_all=0.454673;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 231830295 rs3738401 G A 1460.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.189;DP=119;ExcessHet=3.0103;FS=5.613;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.111;SOR=0.512;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=exonic;Gene=NM_001012957,NM_001012958,NM_001012959,NM_001164537,NM_001164538,NM_001164539,NM_001164540,NM_001164541,NM_001164542,NM_001164544,NM_001164545,NM_001164546,NM_001164547,NM_001164548,NM_001164549,NM_001164550,NM_001164551,NM_001164552,NM_001164553,NM_001164554,NM_001164555,NM_018662;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q;Gencode=Name\x3eENST00000539444.5,ENST00000366633.7,ENST00000366636.8,ENST00000622252.4,ENST00000537876.5,ENST00000620189.3,ENST00000602873.5,ENST00000628350.2,ENST00000602281.5,ENST00000602962.5,ENST00000439617.6,ENST00000317586.8,ENST00000535983.5,ENST00000366637.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738401;cosmic70=.;CLNALLELEID=104239;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;gwasCatalog=.;1000g2015aug_eas=0.2173;1000g2015aug_sas=0.2219;1000g2015aug_eur=0.339;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.3329;1000g2015aug_all=0.232228;esp6500siv2_all=0.2600;ExAC_ALL=0.2923;ExAC_AFR=0.1398;ExAC_AMR=0.3757;ExAC_EAS=0.2432;ExAC_FIN=0.2972;ExAC_NFE=0.3147;ExAC_OTH=0.3009;ExAC_SAS=0.2631;SIFT_score=0.39;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.093;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.865;MutationAssessor_pred=N;FATHMM_score=1.84;FATHMM_pred=T;phyloP100way_vertebrate=-1.132;phyloP20way_mammalian=-1.956;SiPhy_29way_logOdds=1.752;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,54:119:99:1489,0,1841 1 231835941 rs11577035 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398,NR_028399,NR_028400;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439617.6,ENST00000602962.5,ENST00000602281.5,ENST00000535983.5,ENST00000366637.7,ENST00000317586.8,ENST00000366633.7,ENST00000539444.5,ENST00000628350.2,ENST00000602873.5,ENST00000620189.3,ENST00000537876.5,ENST00000622252.4,ENST00000366636.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2204\x3bName\x3e"411690:Tigger2a(DNA)";avsnp150=rs11577035;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2183;1000g2015aug_sas=0.1963;1000g2015aug_eur=0.334;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.3256;1000g2015aug_all=0.225839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 231931048 rs2273890 T C 442.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.367;DP=24;ExcessHet=3.0103;FS=3.388;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=-1.219;SOR=2.012;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISC1,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439617.6,ENST00000602962.5,ENST00000602281.5,ENST00000535983.5,ENST00000366637.7,ENST00000366633.7,ENST00000539444.5,ENST00000602873.5,ENST00000628350.2,ENST00000620189.3,ENST00000537876.5,ENST00000622252.4,ENST00000366636.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273890;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.0583;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.121;1000g2015aug_amr=0.0793;1000g2015aug_all=0.104433;esp6500siv2_all=0.1274;ExAC_ALL=0.1180;ExAC_AFR=0.1122;ExAC_AMR=0.0791;ExAC_EAS=0.1186;ExAC_FIN=0.1304;ExAC_NFE=0.1374;ExAC_OTH=0.1092;ExAC_SAS=0.0659;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,13:24:99:471,0,329 1 231935699 rs4658884 T C 93.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000602281.5,ENST00000602962.5,ENST00000439617.6,ENST00000535983.5,ENST00000366637.7,ENST00000366633.7,ENST00000539444.5,ENST00000620189.3,ENST00000602873.5,ENST00000628350.2,ENST00000366636.8,ENST00000622252.4,ENST00000537876.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e32\x3bName\x3e"411859:(CTTTC)n(Simple_repeat)";avsnp150=rs4658884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5962;1000g2015aug_sas=0.7699;1000g2015aug_eur=0.7664;1000g2015aug_afr=0.6165;1000g2015aug_amr=0.7824;1000g2015aug_all=0.695487;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:121,9,0 1 231936016 rs2759354 A G 598.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=0.99;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISC1,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000539444.5,ENST00000366633.7,ENST00000622252.4,ENST00000537876.5,ENST00000366636.8,ENST00000620189.3,ENST00000628350.2,ENST00000602873.5,ENST00000439617.6,ENST00000602962.5,ENST00000602281.5,ENST00000366637.7,ENST00000535983.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759354;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.994;1000g2015aug_afr=0.9697;1000g2015aug_amr=0.9914;1000g2015aug_all=0.988419;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:627,63,0 1 231936150 rs2255340 T C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393,NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366637.7,ENST00000535983.5,ENST00000439617.6,ENST00000602962.5,ENST00000602281.5,ENST00000537876.5,ENST00000622252.4,ENST00000366636.8,ENST00000628350.2,ENST00000602873.5,ENST00000620189.3,ENST00000539444.5,ENST00000366633.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2255340;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5982;1000g2015aug_sas=0.774;1000g2015aug_eur=0.7724;1000g2015aug_afr=0.6982;1000g2015aug_amr=0.7896;1000g2015aug_all=0.720447;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 231954427 rs1535530 C T 806.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=3.716;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_exonic;Gene=NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439617.6,ENST00000602962.5,ENST00000602281.5,ENST00000535983.5,ENST00000366637.7,ENST00000366633.7,ENST00000539444.5,ENST00000628350.2,ENST00000602873.5,ENST00000620189.3,ENST00000537876.5,ENST00000622252.4,ENST00000366636.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1535530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7927;1000g2015aug_sas=0.6728;1000g2015aug_eur=0.7256;1000g2015aug_afr=0.5514;1000g2015aug_amr=0.7205;1000g2015aug_all=0.682109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:835,60,0 1 231954682 rs2295959 C T 113.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.169;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.063;SOR=0.036;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_exonic;Gene=NR_028394,NR_028395,NR_028396,NR_028397,NR_028398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366633.7,ENST00000539444.5,ENST00000628350.2,ENST00000602873.5,ENST00000620189.3,ENST00000366636.8,ENST00000537876.5,ENST00000622252.4,ENST00000602281.5,ENST00000602962.5,ENST00000439617.6,ENST00000366637.7,ENST00000535983.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295959;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.374;1000g2015aug_sas=0.1421;1000g2015aug_eur=0.0656;1000g2015aug_afr=0.1445;1000g2015aug_amr=0.1124;1000g2015aug_all=0.169928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:142,0,206 1 231957336 rs16855093 C T 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366637.7,ENST00000535983.5,ENST00000439617.6,ENST00000620189.3,ENST00000628350.2,ENST00000622252.4,ENST00000537876.5,ENST00000366636.8,ENST00000366633.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16855093;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.373;1000g2015aug_sas=0.1309;1000g2015aug_eur=0.0577;1000g2015aug_afr=0.0439;1000g2015aug_amr=0.1052;1000g2015aug_all=0.138379;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 231960663 rs2759357 T C 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISC1,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366637.7,ENST00000535983.5,ENST00000439617.6,ENST00000628350.2,ENST00000620189.3,ENST00000366636.8,ENST00000537876.5,ENST00000622252.4,ENST00000366633.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e53\x3bName\x3e"411899:(ATCC)n(Simple_repeat)";avsnp150=rs2759357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4038;1000g2015aug_sas=0.2751;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.236;1000g2015aug_amr=0.2277;1000g2015aug_all=0.286941;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 232002392 rs3082 A G 626.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000439617.6,ENST00000535983.5,ENST00000366637.7,ENST00000622252.4,ENST00000537876.5,ENST00000366636.8,ENST00000620189.3,ENST00000628350.2;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e420\x3bName\x3e"411971:MIR(SINE)";avsnp150=rs3082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4226;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.2057;1000g2015aug_amr=0.3559;1000g2015aug_all=0.344649;esp6500siv2_all=0.3121;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:655,57,0 1 232024105 rs1040944 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTSNAX-DISC1,DISC1;Func=ncRNA_intronic;Gene=NR_028393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366637.7,ENST00000535983.5,ENST00000439617.6,ENST00000622252.4,ENST00000628350.2,ENST00000620189.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1040944;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.8658;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9496;1000g2015aug_all=0.95028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 232172374 rs17773715 G A 1344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.206;DP=97;ExcessHet=3.0103;FS=0.89;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.57;SOR=0.529;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eDISC1,TSNAX-DISC1;Func=ncRNA_intronic;Gene=NR_028393;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000622252.4,ENST00000620189.3,ENST00000439617.6,ENST00000366637.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17773715;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1145;1000g2015aug_eur=0.175;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.147;1000g2015aug_all=0.130391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,49:97:99:1373,0,1317 1 232396286 rs9729067 T A 43.14 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.38;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_028393,NM_020808;GeneDetail=dist\x3e219267\x3bdist\x3e137426;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9729067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4405;1000g2015aug_sas=0.728;1000g2015aug_eur=0.8479;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.7089;1000g2015aug_all=0.759385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:79,9,0 1 232396438 rs78598948 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_028393,NM_020808;GeneDetail=dist\x3e219419\x3bdist\x3e137274;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78598948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.0307;1000g2015aug_eur=0.0646;1000g2015aug_afr=0.0333;1000g2015aug_amr=0.0576;1000g2015aug_all=0.0433307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 232493138 rs2357131 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_028393,NM_020808;GeneDetail=dist\x3e316119\x3bdist\x3e40574;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3776\x3bName\x3e"412799:L2a(LINE)";avsnp150=rs2357131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3482;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.4496;1000g2015aug_all=0.376398;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 232534957 rs12043251 T C 2866.77 PASS AC=2;AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.029;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=exonic;Gene=NM_020808;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SIPA1L2:NM_020808:exon21:c.A5085G:p.R1695R;Gencode=Name\x3eENST00000366630.5,ENST00000262861.8,ENST00000308942.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12043251;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7371;1000g2015aug_sas=0.3436;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.4697;1000g2015aug_all=0.401558;esp6500siv2_all=0.2532;ExAC_ALL=0.3342;ExAC_AFR=0.2542;ExAC_AMR=0.5825;ExAC_EAS=0.7388;ExAC_FIN=0.2941;ExAC_NFE=0.2551;ExAC_OTH=0.3171;ExAC_SAS=0.3340;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,94:94:99:2895,281,0 1 232535030 rs629939 C T 2041.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=1.532;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366630.5,ENST00000262861.8,ENST00000308942.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs629939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.998;1000g2015aug_eur=0.993;1000g2015aug_afr=1;1000g2015aug_amr=0.9957;1000g2015aug_all=0.997604;esp6500siv2_all=0.9957;ExAC_ALL=0.9956;ExAC_AFR=0.9984;ExAC_AMR=0.9977;ExAC_EAS=1;ExAC_FIN=0.9971;ExAC_NFE=0.9936;ExAC_OTH=1;ExAC_SAS=0.9975;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2070,177,0 1 232551416 rs12569188 G A 1014.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.054;DP=79;ExcessHet=3.0103;FS=4.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.737;SOR=1.204;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366630.5,ENST00000308942.4,ENST00000262861.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12569188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.2843;1000g2015aug_eur=0.3827;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.3905;1000g2015aug_all=0.315096;esp6500siv2_all=0.3159;ExAC_ALL=0.3601;ExAC_AFR=0.1916;ExAC_AMR=0.3589;ExAC_EAS=0.4428;ExAC_FIN=0.3700;ExAC_NFE=0.3857;ExAC_OTH=0.3705;ExAC_SAS=0.3102;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,41:79:99:1043,0,1029 1 232561597 rs761566962 A G 1058.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.943;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.242;SOR=0.634;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000262861.8,ENST00000308942.4,ENST00000366630.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs761566962;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=7.57e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:53,43:96:99:1087,0,1489 1 232568293 rs1547741 A G 1792.77 PASS AC=2;AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308942.4,ENST00000262861.8,ENST00000366630.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1547741;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9928;1000g2015aug_eur=0.9175;1000g2015aug_afr=0.9985;1000g2015aug_amr=0.9726;1000g2015aug_all=0.977835;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,55:55:99:1821,165,0 1 232577281 rs573140 T G 980.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.96;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000308942.4,ENST00000262861.8,ENST00000366630.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs573140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.3032;1000g2015aug_afr=0.1657;1000g2015aug_amr=0.1772;1000g2015aug_all=0.201278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1009,84,0 1 232579521 rs776478512 T C 1038.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.085;DP=51;ExcessHet=3.0103;FS=8.499;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=0.806;SOR=0.102;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=intronic;Gene=NM_020808;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366630.5,ENST00000262861.8,ENST00000308942.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs776478512;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,36:51:99:1067,0,439 1 232650750 rs3795366 A G 2292.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.694;DP=196;ExcessHet=3.0103;FS=1.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.477;SOR=0.557;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=exonic;Gene=NM_020808;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SIPA1L2:NM_020808:exon1:c.T336C:p.S112S;Gencode=Name\x3eENST00000366630.5,ENST00000262861.8;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.504;1000g2015aug_sas=0.8446;1000g2015aug_eur=0.9463;1000g2015aug_afr=0.9917;1000g2015aug_amr=0.8429;1000g2015aug_all=0.835064;esp6500siv2_all=0.9484;ExAC_ALL=0.8710;ExAC_AFR=0.9864;ExAC_AMR=0.7741;ExAC_EAS=0.4609;ExAC_FIN=0.8731;ExAC_NFE=0.9296;ExAC_OTH=0.8725;ExAC_SAS=0.8463;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:105,91:196:99:2321,0,2954 1 232650867 rs4649383 C T 1922.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.353;DP=160;ExcessHet=3.0103;FS=5.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.255;SOR=0.39;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSIPA1L2;Func=exonic;Gene=NM_020808;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SIPA1L2:NM_020808:exon1:c.G219A:p.K73K;Gencode=Name\x3eENST00000262861.8,ENST00000366630.5;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4649383;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.6135;1000g2015aug_eur=0.7952;1000g2015aug_afr=0.4569;1000g2015aug_amr=0.6369;1000g2015aug_all=0.555511;esp6500siv2_all=0.7063;ExAC_ALL=0.6872;ExAC_AFR=0.4925;ExAC_AMR=0.5720;ExAC_EAS=0.2973;ExAC_FIN=0.7610;ExAC_NFE=0.7895;ExAC_OTH=0.6956;ExAC_SAS=0.6435;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:85,75:160:99:1951,0,2467 1 232822269 rs10910589 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020808,NR_146922;GeneDetail=dist\x3e170915\x3bdist\x3e31548;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10910589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.171;1000g2015aug_amr=0.3242;1000g2015aug_all=0.348043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 232822311 rs1334410 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020808,NR_146922;GeneDetail=dist\x3e170957\x3bdist\x3e31506;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1334410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4792;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.3479;1000g2015aug_afr=0.1717;1000g2015aug_amr=0.3242;1000g2015aug_all=0.348243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 232868014 rs9286802 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC101927683;Func=ncRNA_intronic;Gene=NR_110683;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000457698.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1949\x3bName\x3e"413335:AluJb(SINE)";avsnp150=rs9286802;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.9397;1000g2015aug_eur=0.9274;1000g2015aug_afr=0.8979;1000g2015aug_amr=0.9539;1000g2015aug_all=0.935304;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 232893559 rs2644446 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110683,NM_019090;GeneDetail=dist\x3e15098\x3bdist\x3e47079;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644446;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.9352;1000g2015aug_all=0.86901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 232893564 rs2644447 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_110683,NM_019090;GeneDetail=dist\x3e15103\x3bdist\x3e47074;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2644447;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9246;1000g2015aug_sas=0.9162;1000g2015aug_eur=0.9245;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.9352;1000g2015aug_all=0.86901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 232941153 rs12409898 C T 1343.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP10;Func=exonic;Gene=NM_019090;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAP10:NM_019090:exon1:c.C384T:p.F128F;Gencode=Name\x3eENST00000418460.2;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12409898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.7587;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.084;1000g2015aug_amr=0.5879;1000g2015aug_all=0.527356;esp6500siv2_all=0.5310;ExAC_ALL=0.6537;ExAC_AFR=0.1651;ExAC_AMR=0.6029;ExAC_EAS=0.6440;ExAC_FIN=0.7247;ExAC_NFE=0.6973;ExAC_OTH=0.6842;ExAC_SAS=0.7585;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1372,123,0 1 233086239 rs17452762 T G 33.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-1.465;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001329452,NM_001329453,NM_032324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17452762;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0473243;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,2:7:62:62,0,188 1 233086456 rs13381 T C 549.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.338;DP=39;ExcessHet=3.0103;FS=9.548;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.197;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTPCR;Func=UTR5;Gene=NM_001329452,NM_001329453,NM_032324;GeneDetail=NM_001329452:c.-1T>C\x3bNM_001329453:c.-1T>C\x3bNM_032324:c.-1T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366628.9,ENST00000366627.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1825;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.1988;1000g2015aug_afr=0.3336;1000g2015aug_amr=0.1513;1000g2015aug_all=0.227236;esp6500siv2_all=0.2700;ExAC_ALL=0.2290;ExAC_AFR=0.3303;ExAC_AMR=0.1352;ExAC_EAS=0.2214;ExAC_FIN=0.1935;ExAC_NFE=0.2281;ExAC_OTH=0.2367;ExAC_SAS=0.2553;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:578,0,496 1 233111951 rs1885004 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-1.501;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTPCR;Func=intronic;Gene=NM_001329452,NM_001329453,NM_032324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366628.9,ENST00000366627.4;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1267\x3bName\x3e"413798:L1MA6(LINE)";avsnp150=rs1885004;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1815;1000g2015aug_sas=0.1973;1000g2015aug_eur=0.2416;1000g2015aug_afr=0.326;1000g2015aug_amr=0.1715;1000g2015aug_all=0.233427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,149 1 233112095 rs41303307 A G 616.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.142;DP=52;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.623;SOR=1.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTPCR;Func=intronic;Gene=NM_001329452,NM_001329453,NM_032324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366627.4,ENST00000366628.9;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1267\x3bName\x3e"413798:L1MA6(LINE)";avsnp150=rs41303307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.006;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.0437;1000g2015aug_afr=0.0643;1000g2015aug_amr=0.0447;1000g2015aug_all=0.0473243;esp6500siv2_all=.;ExAC_ALL=0.0964;ExAC_AFR=0.072;ExAC_AMR=0.0464;ExAC_EAS=0.0131;ExAC_FIN=0.0267;ExAC_NFE=0.1015;ExAC_OTH=0.0493;ExAC_SAS=0.1203;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.698;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=0.35;FATHMM_pred=T;phyloP100way_vertebrate=0.347;phyloP20way_mammalian=0.560;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,24:51:99:645,0,736 1 233113827 rs1045158 G T 959.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-3.192;DP=67;ExcessHet=3.0103;FS=7.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.057;SOR=0.168;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNTPCR;Func=intronic;Gene=NM_001329452,NM_001329453,NM_032324;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366628.9;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1045158;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1756;1000g2015aug_sas=0.1421;1000g2015aug_eur=0.2087;1000g2015aug_afr=0.3192;1000g2015aug_amr=0.1455;1000g2015aug_all=0.209465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,36:67:99:988,0,1024 1 233134086 rs56231757 C T 639.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.078;DP=51;ExcessHet=3.0103;FS=5.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.322;SOR=0.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=exonic;Gene=NM_014801;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PCNX2:NM_014801:exon32:c.G5702A:p.S1901N;Gencode=Name\x3eENST00000258229.13,ENST00000344698.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56231757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.12;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.2147;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.1657;1000g2015aug_all=0.183506;esp6500siv2_all=0.2355;ExAC_ALL=0.1972;ExAC_AFR=0.2559;ExAC_AMR=0.1435;ExAC_EAS=0.1491;ExAC_FIN=0.1746;ExAC_NFE=0.2204;ExAC_OTH=0.2151;ExAC_SAS=0.1393;SIFT_score=0.113;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.736;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.995;MutationAssessor_pred=L;FATHMM_score=3.06;FATHMM_pred=T;phyloP100way_vertebrate=1.579;phyloP20way_mammalian=-0.308;SiPhy_29way_logOdds=9.345;gerp++gt2=3.82;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,28:51:99:668,0,605 1 233150270 rs6424263 T C 240.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.274;DP=17;ExcessHet=3.0103;FS=3.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.563;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000344698.6,ENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6424263;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.33;1000g2015aug_afr=0.7057;1000g2015aug_amr=0.3573;1000g2015aug_all=0.473043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,10:17:99:269,0,227 1 233152681 rs188866535 G A 983.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.721;DP=91;ExcessHet=3.0103;FS=1.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.604;SOR=0.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=exonic;Gene=NM_014801;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=PCNX2:NM_014801:exon27:c.C4825T:p.R1609W;Gencode=Name\x3eENST00000258229.13,ENST00000344698.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs188866535;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0083;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00259585;esp6500siv2_all=0.0030;ExAC_ALL=0.0010;ExAC_AFR=0.0071;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0.0011;ExAC_SAS=0;SIFT_score=0.068;SIFT_pred=T;Polyphen2_HDIV_score=0.877;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.462;Polyphen2_HVAR_pred=P;LRT_score=0.342;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_pred=L;FATHMM_score=3.07;FATHMM_pred=T;phyloP100way_vertebrate=0.954;phyloP20way_mammalian=-0.310;SiPhy_29way_logOdds=8.595;gerp++gt2=4.89;CADD=3.769;CADD_Phred=23.4;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,43:91:99:1012,0,1221 1 233160772 rs17355937 T C 1048.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.711;DP=89;ExcessHet=3.0103;FS=0.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.543;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13,ENST00000344698.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17355937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2063;1000g2015aug_sas=0.272;1000g2015aug_eur=0.2396;1000g2015aug_afr=0.2685;1000g2015aug_amr=0.2421;1000g2015aug_all=0.247204;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,38:89:99:1077,0,1476 1 233189946 rs16858557 A G 98.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.389;SOR=0.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13,ENST00000344698.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16858557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0818;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.0677;1000g2015aug_all=0.0754792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,5:12:99:127,0,256 1 233225848 rs12059884 T C 1150.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.057;DP=77;ExcessHet=3.0103;FS=3.116;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.166;SOR=0.405;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=exonic;Gene=NM_014801;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PCNX2:NM_014801:exon23:c.A4035G:p.T1345T;Gencode=Name\x3eENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12059884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0245;1000g2015aug_eur=0.1014;1000g2015aug_afr=0.3548;1000g2015aug_amr=0.1066;1000g2015aug_all=0.133586;esp6500siv2_all=0.1756;ExAC_ALL=0.1036;ExAC_AFR=0.3044;ExAC_AMR=0.0612;ExAC_EAS=0.0003;ExAC_FIN=0.0619;ExAC_NFE=0.1165;ExAC_OTH=0.0872;ExAC_SAS=0.0331;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,46:77:99:1179,0,723 1 233231323 rs2295745 A T 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2295745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1895;1000g2015aug_sas=0.1186;1000g2015aug_eur=0.159;1000g2015aug_afr=0.1952;1000g2015aug_amr=0.1196;1000g2015aug_all=0.161342;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 233264727 . T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8639\x3bName\x3e"414024:LTR12C(LTR)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 233264737 rs1853846 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8639\x3bName\x3e"414024:LTR12C(LTR)";avsnp150=rs1853846;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2014;1000g2015aug_sas=0.0798;1000g2015aug_eur=0.1302;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.098;1000g2015aug_all=0.115216;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 233270711 rs139867689 C T 162.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.494;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.618;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13,ENST00000488780.6;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs139867689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0031;1000g2015aug_eur=0.0179;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0144;1000g2015aug_all=0.00678914;esp6500siv2_all=0.0189;ExAC_ALL=0.0165;ExAC_AFR=0.0034;ExAC_AMR=0.0082;ExAC_EAS=0;ExAC_FIN=0.0190;ExAC_NFE=0.0245;ExAC_OTH=0.0236;ExAC_SAS=0.0047;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,151 1 233395214 rs2139998 T A 670.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePCNXL2;Func=intronic;Gene=NM_014801;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000258229.13;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2670\x3bName\x3e"414248:L1PA8(LINE)";avsnp150=rs2139998;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6062;1000g2015aug_sas=0.409;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.6398;1000g2015aug_all=0.467652;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:699,51,0 1 233464094 . C G 186.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.059;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.422;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1804;Func=exonic;Gene=NM_032435;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MAP3K21:NM_032435:exon1:c.C320G:p.A107G;Gencode=Name\x3eENST00000366624.7,ENST00000366623.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"414385:(CCGC)n(Simple_repeat)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=0.385;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.988;LRT_pred=U;MutationTaster_score=0.733;MutationTaster_pred=N;MutationAssessor_score=-0.175;MutationAssessor_pred=N;FATHMM_score=1.54;FATHMM_pred=T;phyloP100way_vertebrate=1.076;phyloP20way_mammalian=0.783;SiPhy_29way_logOdds=10.714;gerp++gt2=3.66;CADD=0.980;CADD_Phred=10.54;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:215,0,291 1 233515413 rs1402815 G A 647.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.083;DP=62;ExcessHet=3.0103;FS=1.035;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-2.656;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1804;Func=exonic;Gene=NM_032435;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MAP3K21:NM_032435:exon9:c.G2661A:p.P887P;Gencode=Name\x3eENST00000366622.1,ENST00000366624.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1402815;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3294;1000g2015aug_sas=0.2904;1000g2015aug_eur=0.3469;1000g2015aug_afr=0.0144;1000g2015aug_amr=0.1599;1000g2015aug_all=0.21865;esp6500siv2_all=0.2463;ExAC_ALL=0.3063;ExAC_AFR=0.0618;ExAC_AMR=0.1606;ExAC_EAS=0.3721;ExAC_FIN=0.4416;ExAC_NFE=0.3530;ExAC_OTH=0.2905;ExAC_SAS=0.2843;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,25:62:99:676,0,1087 1 233518682 rs1294236 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKIAA1804;Func=UTR3;Gene=NM_032435;GeneDetail=NM_032435:c.*225G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366622.1,ENST00000366624.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1294236;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4048;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.3761;1000g2015aug_all=0.414736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 233554307 rs143209554 T C 48.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e33413\x3bdist\x3e195443;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33\x3bName\x3e"414549:(TTTTTTTG)n(Simple_repeat)";avsnp150=rs143209554;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3363;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3907;1000g2015aug_afr=0.0166;1000g2015aug_amr=0.183;1000g2015aug_all=0.245008;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:76,6,0 1 233554308 rs151081227 G T 48.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e33414\x3bdist\x3e195442;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e33\x3bName\x3e"414549:(TTTTTTTG)n(Simple_repeat)";avsnp150=rs151081227;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3383;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.0295;1000g2015aug_amr=0.1873;1000g2015aug_all=0.249601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:76,6,0 1 233579285 . T C 40.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e58391\x3bdist\x3e170465;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e397\x3bName\x3e"414596:MIRc(SINE)";avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:68,6,0 1 233579288 rs10797455 C T 40.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e58394\x3bdist\x3e170462;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e397\x3bName\x3e"414596:MIRc(SINE)";avsnp150=rs10797455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.9335;1000g2015aug_eur=0.9404;1000g2015aug_afr=0.8351;1000g2015aug_amr=0.915;1000g2015aug_all=0.906749;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:68,6,0 1 233634118 rs10910193 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e113224\x3bdist\x3e115632;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3027\x3bName\x3e"414715:LTR35B(LTR)";avsnp150=rs10910193;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.6484;1000g2015aug_all=0.627796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 233634158 rs10910194 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_032435,NM_002245;GeneDetail=dist\x3e113264\x3bdist\x3e115592;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3571\x3bName\x3e"414716:MER21B(LTR)";avsnp150=rs10910194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.6892;1000g2015aug_eur=0.8638;1000g2015aug_afr=0.5287;1000g2015aug_amr=0.6484;1000g2015aug_all=0.627796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 233749855 rs2795294 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1;Func=UTR5;Gene=NM_002245;GeneDetail=NM_002245:c.-63A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2795294;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.744;1000g2015aug_sas=0.59;1000g2015aug_eur=0.674;1000g2015aug_afr=0.6914;1000g2015aug_amr=0.6686;1000g2015aug_all=0.675519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 233759918 rs701213 T C 294.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.039;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.053;SOR=1.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1,MIR4427;Func=ncRNA_exonic;Gene=NR_039625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7,ENST00000585213.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs701213;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3423;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.2535;1000g2015aug_afr=0.3268;1000g2015aug_amr=0.3905;1000g2015aug_all=0.327476;esp6500siv2_all=.;ExAC_ALL=0.6875;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=0.75;ExAC_NFE=0.6667;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:323,0,321 1 233760106 rs633860 A G 81.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=1.645;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1;Func=intronic;Gene=NM_002245;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs633860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5913;1000g2015aug_sas=0.593;1000g2015aug_eur=0.4702;1000g2015aug_afr=0.5741;1000g2015aug_amr=0.6182;1000g2015aug_all=0.566494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:110,0,68 1 233785716 rs17814096 T G 693.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.657;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.353;SOR=0.77;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1;Func=intronic;Gene=NM_002245;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1025\x3bName\x3e"415004:LTR82B(LTR)";avsnp150=rs17814096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1538;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.1014;1000g2015aug_amr=0.1931;1000g2015aug_all=0.167332;esp6500siv2_all=0.2129;ExAC_ALL=0.2170;ExAC_AFR=0.1172;ExAC_AMR=0.1743;ExAC_EAS=0.1658;ExAC_FIN=0.3365;ExAC_NFE=0.2441;ExAC_OTH=0.2657;ExAC_SAS=0.1700;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,26:53:99:722,0,798 1 233785786 rs4649241 A C 475.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.447;DP=47;ExcessHet=3.0103;FS=1.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.965;SOR=0.934;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1;Func=intronic;Gene=NM_002245;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1025\x3bName\x3e"415004:LTR82B(LTR)";avsnp150=rs4649241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5704;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4085;1000g2015aug_afr=0.5809;1000g2015aug_amr=0.5922;1000g2015aug_all=0.535743;esp6500siv2_all=0.4656;ExAC_ALL=0.4795;ExAC_AFR=0.5568;ExAC_AMR=0.6695;ExAC_EAS=0.5953;ExAC_FIN=0.3471;ExAC_NFE=0.4269;ExAC_OTH=0.4523;ExAC_SAS=0.5038;SIFT_score=0.004;SIFT_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.33;FATHMM_pred=T;phyloP100way_vertebrate=-1.334;phyloP20way_mammalian=-1.979;SiPhy_29way_logOdds=2.043;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,19:47:99:504,0,654 1 233807465 rs73107506 G A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKCNK1;Func=UTR3;Gene=NM_002245;GeneDetail=NM_002245:c.*189G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366621.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73107506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0496;1000g2015aug_sas=0.1524;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.1873;1000g2015aug_all=0.15595;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 234040742 rs12136133 A C 63.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.381;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=UTR5;Gene=NM_173508;GeneDetail=NM_173508:c.-82A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12136133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.4304;1000g2015aug_amr=0.3098;1000g2015aug_all=0.449481;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:92:92,0,301 1 234041129 rs9435566 G C 607.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9435566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:636,48,0 1 234041422 rs57010808 G C 3091.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.449;DP=261;ExcessHet=3.0103;FS=2.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.619;SOR=0.865;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=exonic;Gene=NM_173508;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=SLC35F3:NM_173508:exon2:c.G201C:p.P67P;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57010808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.544;1000g2015aug_eur=0.4742;1000g2015aug_afr=0.4387;1000g2015aug_amr=0.3127;1000g2015aug_all=0.450679;esp6500siv2_all=0.4963;ExAC_ALL=0.4853;ExAC_AFR=0.4506;ExAC_AMR=0.2770;ExAC_EAS=0.4394;ExAC_FIN=0.5135;ExAC_NFE=0.5125;ExAC_OTH=0.4823;ExAC_SAS=0.5559;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:140,119:259:99:3120,0,3869 1 234083936 rs12730326 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e51\x3bName\x3e"415526:(AGAG)n(Simple_repeat)";avsnp150=rs12730326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3204;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2853;1000g2015aug_afr=0.0605;1000g2015aug_amr=0.3314;1000g2015aug_all=0.253395;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 234083942 rs12751402 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e51\x3bName\x3e"415526:(AGAG)n(Simple_repeat)";avsnp150=rs12751402;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3175;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2833;1000g2015aug_afr=0.0598;1000g2015aug_amr=0.3271;1000g2015aug_all=0.2502;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 234263875 rs6694267 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6694267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.2784;1000g2015aug_amr=0.3242;1000g2015aug_all=0.312899;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 234341779 rs61822416 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs61822416;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0982;1000g2015aug_sas=0.3538;1000g2015aug_eur=0.5686;1000g2015aug_afr=0.0628;1000g2015aug_amr=0.415;1000g2015aug_all=0.277157;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 234367549 rs2236220 T C 1109.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.086;DP=83;ExcessHet=3.0103;FS=6.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.123;SOR=0.278;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_001300845,NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7,ENST00000366617.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2252;1000g2015aug_sas=0.3446;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.5677;1000g2015aug_all=0.391773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:40,43:83:99:1138,0,1093 1 234454405 rs657010 A C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_001300845,NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7,ENST00000366617.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs657010;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9841;1000g2015aug_afr=0.9977;1000g2015aug_amr=0.9928;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 234456245 rs594646 T A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_001300845,NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366617.3,ENST00000366618.7;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs594646;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5734;1000g2015aug_sas=0.4335;1000g2015aug_eur=0.332;1000g2015aug_afr=0.2867;1000g2015aug_amr=0.3573;1000g2015aug_all=0.391973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234458668 rs35870005 G A 36.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eSLC35F3;Func=intronic;Gene=NM_001300845,NM_173508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366618.7,ENST00000366617.3;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs35870005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5724;1000g2015aug_sas=0.4274;1000g2015aug_eur=0.329;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.3516;1000g2015aug_all=0.385783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,2:6:65:65,0,145 1 234492628 rs558789261 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_173508,NR_125961;GeneDetail=dist\x3e32364\x3bdist\x3e15925;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs558789261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234563060 rs443685 T C 283.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.293;DP=33;ExcessHet=3.0103;FS=5.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.273;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs443685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4464;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.335;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.2723;1000g2015aug_all=0.415136;esp6500siv2_all=0.388;ExAC_ALL=0.3705;ExAC_AFR=0.4565;ExAC_AMR=0.2989;ExAC_EAS=0.4307;ExAC_FIN=0.3219;ExAC_NFE=0.3431;ExAC_OTH=0.3400;ExAC_SAS=0.4645;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,14:33:99:312,0,531 1 234573357 rs2273875 G C 316.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.014;DP=31;ExcessHet=3.0103;FS=6.412;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.3;SOR=0.132;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4880\x3bName\x3e"416425:L1MEf(LINE)";avsnp150=rs2273875;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.3805;1000g2015aug_amr=0.5692;1000g2015aug_all=0.445687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,13:31:99:345,0,573 1 234582457 rs270527 C T 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.728;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=1.8;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs270527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5228;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.6441;1000g2015aug_all=0.570887;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:315,0,311 1 234582461 rs2203167 G A 286.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=1.8;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2203167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3746;1000g2015aug_all=0.288139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,8:15:99:315,0,311 1 234582651 rs4920246 T C 686.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.797;DP=78;ExcessHet=3.0103;FS=3.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.975;SOR=0.396;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=exonic;Gene=NM_005646;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=TARBP1:NM_005646:exon12:c.A2032G:p.S678G;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4920246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.3101;1000g2015aug_amr=0.3804;1000g2015aug_all=0.303115;esp6500siv2_all=0.2919;ExAC_ALL=0.2991;ExAC_AFR=0.3323;ExAC_AMR=0.4333;ExAC_EAS=0.3146;ExAC_FIN=0.3066;ExAC_NFE=0.2782;ExAC_OTH=0.3194;ExAC_SAS=0.2566;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.015;MutationAssessor_pred=N;FATHMM_score=3.51;FATHMM_pred=T;phyloP100way_vertebrate=1.841;phyloP20way_mammalian=-0.320;SiPhy_29way_logOdds=9.307;gerp++gt2=4.29;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,31:78:99:715,0,1282 1 234584231 rs2102596 C T 500.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.019;DP=48;ExcessHet=3.0103;FS=2.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.206;SOR=0.384;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=exonic;Gene=NM_005646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TARBP1:NM_005646:exon11:c.G1956A:p.Q652Q;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2102596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2893;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3732;1000g2015aug_all=0.287141;esp6500siv2_all=0.2745;ExAC_ALL=0.2921;ExAC_AFR=0.2871;ExAC_AMR=0.4289;ExAC_EAS=0.3130;ExAC_FIN=0.2978;ExAC_NFE=0.2746;ExAC_OTH=0.3139;ExAC_SAS=0.2562;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,21:48:99:529,0,801 1 234584445 rs7527374 C T 245.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.667;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3036;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2932;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.3746;1000g2015aug_all=0.288139;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,8:16:99:274,0,274 1 234584569 rs270525 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e632\x3bName\x3e"416443:L2b(LINE)";avsnp150=rs270525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.7489;1000g2015aug_amr=0.6441;1000g2015aug_all=0.570687;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234593403 rs6693478 T C 623.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.658;DP=61;ExcessHet=3.0103;FS=2.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.094;SOR=1.214;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6693478;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0716;1000g2015aug_eur=0.1958;1000g2015aug_afr=0.0825;1000g2015aug_amr=0.1182;1000g2015aug_all=0.0916534;esp6500siv2_all=0.1536;ExAC_ALL=0.1553;ExAC_AFR=0.1020;ExAC_AMR=0.1008;ExAC_EAS=0.0015;ExAC_FIN=0.2056;ExAC_NFE=0.2005;ExAC_OTH=0.1704;ExAC_SAS=0.1009;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:36,24:60:99:652,0,922 1 234596202 rs270511 T A 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.062;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.752;SOR=0.148;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4138\x3bName\x3e"416466:L1MB7(LINE)";avsnp150=rs270511;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2192;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.3181;1000g2015aug_afr=0.562;1000g2015aug_amr=0.3674;1000g2015aug_all=0.348842;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,8:17:99:249,0,311 1 234601586 rs270504 G A 539.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs270504;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.1051;1000g2015aug_amr=0.1427;1000g2015aug_all=0.1248;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:568,42,0 1 234603075 rs270503 G T 313.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=intronic;Gene=NM_005646;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs270503;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9226;1000g2015aug_sas=0.6339;1000g2015aug_eur=0.5477;1000g2015aug_afr=0.7693;1000g2015aug_amr=0.6888;1000g2015aug_all=0.718051;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:342,27,0 1 234603386 rs270502 G T 539.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTARBP1;Func=exonic;Gene=NM_005646;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TARBP1:NM_005646:exon4:c.C1110A:p.L370L;Gencode=Name\x3eENST00000040877.1;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs270502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0726;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.1044;1000g2015aug_amr=0.1427;1000g2015aug_all=0.124601;esp6500siv2_all=0.2458;ExAC_ALL=0.2422;ExAC_AFR=0.1436;ExAC_AMR=0.1256;ExAC_EAS=0.0018;ExAC_FIN=0.3410;ExAC_NFE=0.3167;ExAC_OTH=0.2755;ExAC_SAS=0.1567;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:53:568,53,0 1 234634952 rs6677835 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_005646,NR_038426;GeneDetail=dist\x3e20103\x3bdist\x3e28685;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.2;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677835;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2917;1000g2015aug_sas=0.6718;1000g2015aug_eur=0.5209;1000g2015aug_afr=0.798;1000g2015aug_amr=0.6571;1000g2015aug_all=0.596246;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234743237 rs7543281 G A 2736.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.2;DP=158;ExcessHet=3.0103;FS=2.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.088;SOR=0.908;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIRF2BP2;Func=exonic;Gene=NM_001077397,NM_182972;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=IRF2BP2:NM_001077397:exon2:c.C1362T:p.G454G,IRF2BP2:NM_182972:exon2:c.C1410T:p.G470G;Gencode=Name\x3eENST00000436039.1,ENST00000366610.7,ENST00000366609.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543281;cosmic70=.;CLNALLELEID=389397;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0377;1000g2015aug_sas=0.0736;1000g2015aug_eur=0.1531;1000g2015aug_afr=0.0832;1000g2015aug_amr=0.0764;1000g2015aug_all=0.0852636;esp6500siv2_all=0.1242;ExAC_ALL=0.1090;ExAC_AFR=0.0899;ExAC_AMR=0.0532;ExAC_EAS=0.0268;ExAC_FIN=0.1365;ExAC_NFE=0.1375;ExAC_OTH=0.1300;ExAC_SAS=0.0760;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:65,93:158:99:2765,0,1882 1 234744480 rs11502 G A 216.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.111;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.281;SOR=0.252;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIRF2BP2;Func=exonic;Gene=NM_001077397,NM_182972;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IRF2BP2:NM_001077397:exon1:c.C761T:p.A254V,IRF2BP2:NM_182972:exon1:c.C761T:p.A254V;Gencode=Name\x3eENST00000366609.3,ENST00000436039.1,ENST00000366610.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0225;1000g2015aug_eur=0.0964;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.0778;1000g2015aug_all=0.0363419;esp6500siv2_all=0.0592;ExAC_ALL=0.1448;ExAC_AFR=0.0646;ExAC_AMR=0.2731;ExAC_EAS=0.0034;ExAC_FIN=0.3;ExAC_NFE=0.2393;ExAC_OTH=0.1481;ExAC_SAS=0.0665;SIFT_score=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.382;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_pred=B;LRT_score=0.119;LRT_pred=U;MutationTaster_score=0.991;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=1.59;FATHMM_pred=T;phyloP100way_vertebrate=2.514;phyloP20way_mammalian=0.844;SiPhy_29way_logOdds=12.829;gerp++gt2=3.8;CADD=1.087;CADD_Phred=11.14;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,7:15:99:245,0,255 1 234745009 rs7545855 A G 673.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eIRF2BP2;Func=exonic;Gene=NM_001077397,NM_182972;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=IRF2BP2:NM_001077397:exon1:c.T232C:p.S78P,IRF2BP2:NM_182972:exon1:c.T232C:p.S78P;Gencode=Name\x3eENST00000366609.3,ENST00000366610.7,ENST00000436039.1;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7545855;cosmic70=.;CLNALLELEID=389426;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2679;1000g2015aug_sas=0.4509;1000g2015aug_eur=0.7734;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.549;1000g2015aug_all=0.603834;esp6500siv2_all=.;ExAC_ALL=0.6365;ExAC_AFR=0.8333;ExAC_AMR=0.5714;ExAC_EAS=0.2;ExAC_FIN=0.8;ExAC_NFE=0.75;ExAC_OTH=0.6429;ExAC_SAS=0.6113;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.613;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.49;FATHMM_pred=T;phyloP100way_vertebrate=0.495;phyloP20way_mammalian=-0.130;SiPhy_29way_logOdds=4.790;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:702,51,0 1 234912445 rs2488215 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e45055\x3bdist\x3e180645;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2488215;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234913837 rs2488217 G A 32.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.967;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e46447\x3bdist\x3e179253;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e689\x3bName\x3e"417072:MIR(SINE)";avsnp150=rs2488217;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:61,0,33 1 234913876 rs2582654 A G 66.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e46486\x3bdist\x3e179214;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2582654;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.881;1000g2015aug_sas=0.8272;1000g2015aug_eur=0.7346;1000g2015aug_afr=0.6566;1000g2015aug_amr=0.7579;1000g2015aug_all=0.764776;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:94,9,0 1 234914128 rs2804778 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e46738\x3bdist\x3e178962;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2804778;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9167;1000g2015aug_sas=0.8804;1000g2015aug_eur=0.7803;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.804;1000g2015aug_all=0.806909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 234914578 rs945736 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e47188\x3bdist\x3e178512;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945736;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5288;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.5045;1000g2015aug_amr=0.5231;1000g2015aug_all=0.516973;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 234914714 rs1815546 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e47324\x3bdist\x3e178376;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1815546;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 234915164 rs945732 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e47774\x3bdist\x3e177926;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs945732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9325;1000g2015aug_sas=0.8906;1000g2015aug_eur=0.7773;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.8156;1000g2015aug_all=0.815695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 234915941 rs553052317 A G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.645;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e48551\x3bdist\x3e177149;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2840\x3bName\x3e"417075:LTR49(LTR)";avsnp150=rs553052317;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.0159;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.013;1000g2015aug_all=0.00559105;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:69:78,0,69 1 234976862 rs2786025 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e109472\x3bdist\x3e116228;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2786025;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.8405;1000g2015aug_eur=0.9125;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.9092;1000g2015aug_all=0.904952;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 235030723 rs2673970 A G 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e163333\x3bdist\x3e62367;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e909\x3bName\x3e"417294:L1MB3(LINE)";avsnp150=rs2673970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9751;1000g2015aug_afr=1;1000g2015aug_amr=0.9784;1000g2015aug_all=0.989018;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 235087603 rs12725576 T C 44.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_038856,NR_125945;GeneDetail=dist\x3e220213\x3bdist\x3e5487;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e868\x3bName\x3e"417420:FLAM_C(SINE)";avsnp150=rs12725576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.6268;1000g2015aug_eur=0.4344;1000g2015aug_afr=0.407;1000g2015aug_amr=0.4726;1000g2015aug_all=0.474641;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:72,6,0 1 235151049 rs11488718 C G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125945,NR_027454;GeneDetail=dist\x3e51303\x3bdist\x3e50172;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e4107\x3bName\x3e"417562:HAL1M8(LINE)";avsnp150=rs11488718;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.7802;1000g2015aug_eur=0.7495;1000g2015aug_afr=0.5038;1000g2015aug_amr=0.5778;1000g2015aug_all=0.601238;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 HG1473_PATCH 235199643 rs902247433 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_125945,NR_027454;GeneDetail=dist\x3e99897\x3bdist\x3e1578;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2316\x3bName\x3e"417710:AluSx(SINE)";avsnp150=rs902247433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 235284312 rs111393885 C T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOMM20;Func=intronic;Gene=NM_014765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366607.4;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2306\x3bName\x3e"417848:AluSc(SINE)";avsnp150=rs111393885;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0859;1000g2015aug_eur=0.1481;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.1254;1000g2015aug_all=0.135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:72,0,37 1 235290922 rs4329572 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTOMM20;Func=intronic;Gene=NM_014765;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366607.4;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4329572;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.682;1000g2015aug_eur=0.671;1000g2015aug_afr=0.8729;1000g2015aug_amr=0.6412;1000g2015aug_all=0.661142;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 235324047 rs66533903 A C 373.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=20;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=0.165;SOR=1.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRBM34;Func=intronic;Gene=NM_001346738,NM_015014;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000408888.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66533903;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.0767;1000g2015aug_eur=0.1252;1000g2015aug_afr=0.4009;1000g2015aug_amr=0.1239;1000g2015aug_all=0.167332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,11:19:99:402,0,277 1 235338377 rs12731779 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARID4B;Func=intronic;Gene=NM_001206794,NM_016374,NM_031371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264183.7,ENST00000366603.6,ENST00000349213.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2369\x3bName\x3e"417984:AluSc5(SINE)";avsnp150=rs12731779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3598;1000g2015aug_afr=0.0613;1000g2015aug_amr=0.4092;1000g2015aug_all=0.295327;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 235394541 rs7518225 A C 103.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.755;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=1.815;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARID4B;Func=intronic;Gene=NM_001206794,NM_016374,NM_031371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264183.7,ENST00000366603.6,ENST00000349213.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7518225;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.4791;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.5086;1000g2015aug_all=0.448083;esp6500siv2_all=0.4197;ExAC_ALL=0.5121;ExAC_AFR=0.4686;ExAC_AMR=0.5946;ExAC_EAS=0.2696;ExAC_FIN=0.5281;ExAC_NFE=0.4759;ExAC_OTH=0.5419;ExAC_SAS=0.6151;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,6:14:99:141,0,177 1 235410024 rs2297803 G A 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.842;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eARID4B;Func=intronic;Gene=NM_001206794,NM_016374,NM_031371;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264183.7,ENST00000366603.6,ENST00000349213.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2282;1000g2015aug_sas=0.5337;1000g2015aug_eur=0.3648;1000g2015aug_afr=0.0734;1000g2015aug_amr=0.4092;1000g2015aug_all=0.299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 235504991 rs80291043 T C 344.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.095;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.767;SOR=0.437;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGGPS1;Func=intronic;Gene=NM_001037277;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000282841.9,ENST00000358966.6,ENST00000391855.2,ENST00000488594.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs80291043;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0423323;esp6500siv2_all=0.0565;ExAC_ALL=0.0166;ExAC_AFR=0.1542;ExAC_AMR=0.0082;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0052;ExAC_OTH=0.0100;ExAC_SAS=0.0009;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:373,0,282 1 235506198 rs59406951 G A 72.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.319;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=0.319;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGGPS1;Func=UTR3;Gene=NM_001037277;GeneDetail=NM_001037277:c.*111G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000358966.6,ENST00000391855.2,ENST00000282841.9,ENST00000488594.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs59406951;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.005;1000g2015aug_afr=0.1483;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0423323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:101,0,30 1 235582924 rs13374091 T G 605.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.21;DP=51;ExcessHet=3.0103;FS=2.381;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.245;SOR=1.088;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs13374091;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0328;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.0548;1000g2015aug_all=0.0756789;esp6500siv2_all=0.0767;ExAC_ALL=0.0385;ExAC_AFR=0.1696;ExAC_AMR=0.0214;ExAC_EAS=0.0005;ExAC_FIN=0.0296;ExAC_NFE=0.0300;ExAC_OTH=0.0470;ExAC_SAS=0.0241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,27:51:99:634,0,612 1 235594182 rs2291687 A G 426.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=2.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6372;1000g2015aug_afr=0.9644;1000g2015aug_amr=0.7161;1000g2015aug_all=0.733826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:455,36,0 1 235594250 rs2291688 A G 34.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.431;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2291688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.504;1000g2015aug_afr=0.3767;1000g2015aug_amr=0.5749;1000g2015aug_all=0.504593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:63,0,33 1 235597252 rs12405889 T G 1201.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=1.885;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12405889;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6567;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.5189;1000g2015aug_afr=0.4062;1000g2015aug_amr=0.5807;1000g2015aug_all=0.520367;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1230,105,0 1 235598973 rs2055127 C T 281.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.16;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.67;ReadPosRankSum=0.678;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543662.3,ENST00000406207.4,ENST00000366601.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2055127;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.3654;1000g2015aug_amr=0.5807;1000g2015aug_all=0.50619;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,10:13:86:310,0,86 1 235600049 rs55962679 A C 410.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.418;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.593;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55962679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0355431;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,12:19:99:439,0,220 1 235600129 rs6429082 T C 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543662.3,ENST00000366601.7,ENST00000406207.4;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429082;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eAdiposity;1000g2015aug_eas=0.6558;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.5318;1000g2015aug_afr=0.5182;1000g2015aug_amr=0.598;1000g2015aug_all=0.551717;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 235600590 rs6697653 G A 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=3.356;DP=38;ExcessHet=3.0103;FS=11.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.882;SOR=3.682;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543662.3,ENST00000406207.4,ENST00000366601.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6697653;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0355431;esp6500siv2_all=0.0494;ExAC_ALL=0.0227;ExAC_AFR=0.1061;ExAC_AMR=0.0147;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0185;ExAC_OTH=0.0188;ExAC_SAS=0.0122;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,15:38:99:510,0,642 1 235600741 rs6666168 A G 863.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.703;DP=88;ExcessHet=3.0103;FS=2.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.205;SOR=1.051;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=exonic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=TBCE:NM_001287802:exon11:c.A729G:p.L243L,TBCE:NM_001079515:exon12:c.A1068G:p.L356L,TBCE:NM_003193:exon12:c.A1068G:p.L356L,TBCE:NM_001287801:exon13:c.A1221G:p.L407L;Gencode=Name\x3eENST00000366601.7,ENST00000406207.4,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666168;cosmic70=.;CLNALLELEID=281239;CLNDN=Hypoparathyroidism_retardation_dysmorphism_syndrome;CLNDISDB=MedGen:C1855840,OMIM:241410,Orphanet:ORPHA2323;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.1074;1000g2015aug_amr=0.013;1000g2015aug_all=0.0361422;esp6500siv2_all=0.0494;ExAC_ALL=0.0227;ExAC_AFR=0.1064;ExAC_AMR=0.0146;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0184;ExAC_OTH=0.0188;ExAC_SAS=0.0124;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,37:88:99:892,0,1267 1 235600813 rs6666184 A C 495.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.659;SOR=1.345;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000543662.3,ENST00000366601.7,ENST00000406207.4;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6666184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0149;1000g2015aug_afr=0.1059;1000g2015aug_amr=0.0115;1000g2015aug_all=0.0355431;esp6500siv2_all=0.0494;ExAC_ALL=0.0228;ExAC_AFR=0.1070;ExAC_AMR=0.0147;ExAC_EAS=0;ExAC_FIN=0.0041;ExAC_NFE=0.0185;ExAC_OTH=0.0188;ExAC_SAS=0.0124;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,15:34:99:524,0,691 1 235601958 rs3819974 G T 136.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.62;DP=24;ExcessHet=3.0103;FS=2.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=1.334;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366601.7,ENST00000406207.4,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3819974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.5838;1000g2015aug_eur=0.6332;1000g2015aug_afr=0.9357;1000g2015aug_amr=0.7133;1000g2015aug_all=0.723442;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,6:24:99:165,0,540 1 235602404 rs2270538 G A 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE;Func=intronic;Gene=NM_001079515,NM_001287801,NM_001287802,NM_003193;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000406207.4,ENST00000366601.7,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2270538;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6796;1000g2015aug_sas=0.5849;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.6787;1000g2015aug_all=0.678315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 235611521 rs112398616 A C 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eTBCE,B3GALNT2;Func=UTR3;Gene=NM_152490;GeneDetail=NM_152490:c.*2000T>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366601.7,ENST00000406207.4,ENST00000543662.3;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2145\x3bName\x3e"418649:AluSg(SINE)";avsnp150=rs112398616;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0143;1000g2015aug_eur=0.0119;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.0043;1000g2015aug_all=0.0157748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 235612320 rs704705 C T 1673.77 PASS AC=2;AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=3.08;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB3GALNT2;Func=UTR3;Gene=NM_152490;GeneDetail=NM_152490:c.*1201G>A;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs704705;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6756;1000g2015aug_sas=0.6237;1000g2015aug_eur=0.6481;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.719;1000g2015aug_all=0.744609;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,48:48:99:1702,144,0 1 235613727 rs41308204 A G 314.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.583;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.247;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB3GALNT2;Func=intronic;Gene=NM_152490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366600.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs41308204;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0139;1000g2015aug_afr=0.0265;1000g2015aug_amr=0.0058;1000g2015aug_all=0.0135783;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:21,14:35:99:343,0,527 1 235617283 rs16832625 T A 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.383;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB3GALNT2;Func=intronic;Gene=NM_152490;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366600.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16832625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0153;1000g2015aug_eur=0.0139;1000g2015aug_afr=0.1399;1000g2015aug_amr=0.0159;1000g2015aug_all=0.0449281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 235667738 rs74549147 G C 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.036;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eB3GALNT2;Func=UTR5;Gene=NM_001277155,NM_152490;GeneDetail=NM_001277155:c.-186C>G\x3bNM_152490:c.-186C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366600.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74549147;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.001;1000g2015aug_afr=0.0098;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00299521;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 235715523 rs14326 A G 1341.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.385;DP=113;ExcessHet=3.0103;FS=0.739;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.653;SOR=0.558;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=exonic;Gene=NM_001098721,NM_001098722,NM_004485;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=GNG4:NM_004485:exon3:c.T114C:p.A38A,GNG4:NM_001098721:exon4:c.T114C:p.A38A,GNG4:NM_001098722:exon4:c.T114C:p.A38A;Gencode=Name\x3eENST00000450593.5,ENST00000391854.6,ENST00000366597.5,ENST00000366598.8,ENST00000484517.2;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs14326;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.495;1000g2015aug_afr=0.5893;1000g2015aug_amr=0.6599;1000g2015aug_all=0.63119;esp6500siv2_all=0.5391;ExAC_ALL=0.5815;ExAC_AFR=0.5977;ExAC_AMR=0.7144;ExAC_EAS=0.8604;ExAC_FIN=0.6165;ExAC_NFE=0.5181;ExAC_OTH=0.5782;ExAC_SAS=0.5747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:62,51:113:99:1370,0,1698 1 235715556 rs423026 C G 887.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.128;DP=79;ExcessHet=3.0103;FS=2.333;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.948;SOR=0.41;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366597.5,ENST00000450593.5,ENST00000391854.6,ENST00000366598.8,ENST00000484517.2;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs423026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.495;1000g2015aug_afr=0.562;1000g2015aug_amr=0.6556;1000g2015aug_all=0.623403;esp6500siv2_all=0.5312;ExAC_ALL=0.5800;ExAC_AFR=0.5735;ExAC_AMR=0.7187;ExAC_EAS=0.8607;ExAC_FIN=0.6169;ExAC_NFE=0.5182;ExAC_OTH=0.5771;ExAC_SAS=0.5746;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,32:79:99:916,0,1464 1 235715601 rs400948 A G 388.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.598;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.735;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366597.5,ENST00000391854.6,ENST00000450593.5,ENST00000484517.2,ENST00000366598.8;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs400948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.495;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.6556;1000g2015aug_all=0.623802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,13:42:99:417,0,982 1 235715617 rs452950 A C 295.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.227;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.804;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,GNG4;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484517.2,ENST00000366598.8,ENST00000391854.6,ENST00000450593.5,ENST00000366597.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs452950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8383;1000g2015aug_sas=0.5941;1000g2015aug_eur=0.495;1000g2015aug_afr=0.5635;1000g2015aug_amr=0.6556;1000g2015aug_all=0.623802;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,10:27:99:324,0,629 1 235715661 rs387492 A G 556.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=5.421;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,GNG4;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484517.2,ENST00000366598.8,ENST00000391854.6,ENST00000450593.5,ENST00000366597.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs387492;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.6839;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.804;1000g2015aug_all=0.806909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:585,42,0 1 235745734 rs2841891 T C 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000484517.2,ENST00000366598.8,ENST00000391854.6,ENST00000450593.5,ENST00000366597.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2841891;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8601;1000g2015aug_sas=0.6043;1000g2015aug_eur=0.6451;1000g2015aug_afr=0.9735;1000g2015aug_amr=0.7579;1000g2015aug_all=0.782748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 235747005 rs2774335 C T 211.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.953;DP=16;ExcessHet=3.0103;FS=10.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.253;SOR=3.816;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,GNG4;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366598.8,ENST00000484517.2,ENST00000450593.5,ENST00000391854.6,ENST00000366597.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2774335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.3903;1000g2015aug_amr=0.5231;1000g2015aug_all=0.499401;esp6500siv2_all=0.3704;ExAC_ALL=0.4446;ExAC_AFR=0.3831;ExAC_AMR=0.6068;ExAC_EAS=0.8038;ExAC_FIN=0.5363;ExAC_NFE=0.3713;ExAC_OTH=0.4518;ExAC_SAS=0.4396;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,7:16:99:240,0,214 1 235747154 rs2774336 A G 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.118;DP=35;ExcessHet=3.0103;FS=1.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.991;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366598.8,ENST00000484517.2,ENST00000450593.5,ENST00000391854.6,ENST00000366597.5;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2774336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7996;1000g2015aug_sas=0.4479;1000g2015aug_eur=0.3767;1000g2015aug_afr=0.3722;1000g2015aug_amr=0.5231;1000g2015aug_all=0.494808;esp6500siv2_all=0.3646;ExAC_ALL=0.4419;ExAC_AFR=0.3655;ExAC_AMR=0.6059;ExAC_EAS=0.8039;ExAC_FIN=0.5357;ExAC_NFE=0.3704;ExAC_OTH=0.4481;ExAC_SAS=0.4365;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,12:35:99:307,0,547 1 235747369 rs74148712 G A 30.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.319;SOR=0.169;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,GNG4;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366597.5,ENST00000391854.6,ENST00000450593.5,ENST00000484517.2,ENST00000366598.8;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs74148712;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0119;1000g2015aug_sas=0.0051;1000g2015aug_eur=0.004;1000g2015aug_afr=0.211;1000g2015aug_amr=0.0187;1000g2015aug_all=0.0625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,2:8:59:59,0,223 1 235806045 rs6667053 G T 127.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGNG4,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366598.8,ENST00000450593.5,ENST00000391854.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.2188;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.6112;1000g2015aug_amr=0.3026;1000g2015aug_all=0.349241;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:155,12,0 1 235827443 rs3819013 T C 77.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.936;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,LYST;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3819013;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.5577;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.304;1000g2015aug_all=0.246406;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:106,0,181 1 235827641 rs12092604 C T 248.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.248;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12092604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.1513;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.7648;1000g2015aug_amr=0.3646;1000g2015aug_all=0.402955;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,8:19:99:277,0,402 1 235856901 rs3754232 G A 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.223;DP=46;ExcessHet=3.0103;FS=1.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.124;SOR=0.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,LYST;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754232;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0427;1000g2015aug_sas=0.1278;1000g2015aug_eur=0.5517;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.3357;1000g2015aug_all=0.247604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,28:46:99:799,0,529 1 235860340 rs7541057 C T 387.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.826;DP=40;ExcessHet=3.0103;FS=1.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.152;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMIR5096,LYST;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7541057;cosmic70=.;CLNALLELEID=249775;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0437;1000g2015aug_sas=0.1493;1000g2015aug_eur=0.5497;1000g2015aug_afr=0.7632;1000g2015aug_amr=0.3617;1000g2015aug_all=0.39996;esp6500siv2_all=0.5823;ExAC_ALL=0.4366;ExAC_AFR=0.7338;ExAC_AMR=0.2663;ExAC_EAS=0.0535;ExAC_FIN=0.5332;ExAC_NFE=0.5191;ExAC_OTH=0.4304;ExAC_SAS=0.1867;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:24,16:40:99:416,0,645 1 235872665 rs2275856 T C 192.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.108;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST,MIR5096;Func=ncRNA_intronic;Gene=NR_039973;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275856;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0734;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.3343;1000g2015aug_all=0.413738;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,137 1 235887276 rs6667717 G T 325.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.895;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.72;ReadPosRankSum=0.289;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6667717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.3329;1000g2015aug_all=0.411741;esp6500siv2_all=0.5283;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,12:15:68:354,0,68 1 235896726 rs6429275 C T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.812;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.732;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429275;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.3372;1000g2015aug_all=0.41254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,189 1 235909485 rs10926565 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=2.655;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2773;1000g2015aug_afr=0.3253;1000g2015aug_amr=0.1873;1000g2015aug_all=0.202476;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,170 1 235910392 rs6676149 A G 1044.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.024;DP=87;ExcessHet=3.0103;FS=2.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=1.052;SOR=1.122;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6676149;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4294;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.3012;1000g2015aug_all=0.304513;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,36:87:99:1073,0,1515 1 235910542 rs3754234 C T 1916.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.558;DP=168;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.627;SOR=0.686;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3754234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.8805;1000g2015aug_amr=0.3343;1000g2015aug_all=0.411941;esp6500siv2_all=.;ExAC_ALL=0.2893;ExAC_AFR=0.8237;ExAC_AMR=0.3172;ExAC_EAS=0.0657;ExAC_FIN=0.25;ExAC_NFE=0.3870;ExAC_OTH=0.2692;ExAC_SAS=0.2099;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,76:167:99:1945,0,2360 1 235922228 rs3738519 T C 251.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.385;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.267;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738519;cosmic70=.;CLNALLELEID=249784;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0248;1000g2015aug_sas=0.1534;1000g2015aug_eur=0.2813;1000g2015aug_afr=0.4198;1000g2015aug_amr=0.2003;1000g2015aug_all=0.230032;esp6500siv2_all=0.3189;ExAC_ALL=0.2489;ExAC_AFR=0.4258;ExAC_AMR=0.1880;ExAC_EAS=0.0098;ExAC_FIN=0.3386;ExAC_NFE=0.2743;ExAC_OTH=0.2444;ExAC_SAS=0.1677;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,8:18:99:280,0,329 1 235922671 rs147756847 T G 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.685;DP=61;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.429;SOR=0.422;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=exonic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LYST:NM_000081:exon23:c.A6482C:p.E2161A,LYST:NM_001301365:exon23:c.A6482C:p.E2161A;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs147756847;cosmic70=.;CLNALLELEID=249788;CLNDN=Chédiak-Higashi_syndrome|not_specified|not_provided;CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=0.008;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.013;1000g2015aug_all=0.00359425;esp6500siv2_all=0.0047;ExAC_ALL=0.0043;ExAC_AFR=0.0012;ExAC_AMR=0.0039;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0063;ExAC_OTH=0.0011;ExAC_SAS=0.0026;SIFT_score=0.028;SIFT_pred=D;Polyphen2_HDIV_score=0.232;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.099;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.973;MutationTaster_pred=D;MutationAssessor_score=2.135;MutationAssessor_pred=M;FATHMM_score=-0.22;FATHMM_pred=T;phyloP100way_vertebrate=5.561;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=8.509;gerp++gt2=2.8;CADD=3.207;CADD_Phred=22.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,30:61:99:799,0,952 1 235940450 rs2273584 C T 1545.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.999;DP=118;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.098;SOR=0.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=exonic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LYST:NM_000081:exon17:c.G5373A:p.K1791K,LYST:NM_001301365:exon17:c.G5373A:p.K1791K;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2273584;cosmic70=.;CLNALLELEID=249791;CLNDN=Chédiak-Higashi_syndrome|not_specified;CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1646;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4871;1000g2015aug_amr=0.2997;1000g2015aug_all=0.300919;esp6500siv2_all=0.4354;ExAC_ALL=0.3483;ExAC_AFR=0.4968;ExAC_AMR=0.2727;ExAC_EAS=0.0604;ExAC_FIN=0.4280;ExAC_NFE=0.4046;ExAC_OTH=0.3455;ExAC_SAS=0.1993;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:60,58:118:99:1574,0,1541 1 235945294 rs6696123 T C 797.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.19;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.07;SOR=0.659;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=exonic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LYST:NM_000081:exon15:c.A4956G:p.L1652L,LYST:NM_001301365:exon15:c.A4956G:p.L1652L;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6696123;cosmic70=.;CLNALLELEID=249795;CLNDN=Chédiak-Higashi_syndrome|not_specified;CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1769;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.2997;1000g2015aug_all=0.303514;esp6500siv2_all=0.4361;ExAC_ALL=0.3501;ExAC_AFR=0.4976;ExAC_AMR=0.2738;ExAC_EAS=0.0605;ExAC_FIN=0.4285;ExAC_NFE=0.4055;ExAC_OTH=0.3466;ExAC_SAS=0.2059;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:19,31:50:99:826,0,507 1 235945502 rs2011390 A G 146.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2296\x3bName\x3e"419371:AluY(SINE)";avsnp150=rs2011390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.7628;1000g2015aug_eur=0.7694;1000g2015aug_afr=0.9138;1000g2015aug_amr=0.7406;1000g2015aug_all=0.817891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:174,12,0 1 235947510 rs9970096 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000389794.7,ENST00000389793.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970096;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1759;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.8812;1000g2015aug_amr=0.3343;1000g2015aug_all=0.412141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 235972435 rs3820553 T C 1176.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.75;DP=84;ExcessHet=3.0103;FS=4.171;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=1.28;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=exonic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LYST:NM_000081:exon5:c.A1683G:p.L561L,LYST:NM_001301365:exon5:c.A1683G:p.L561L;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820553;cosmic70=.;CLNALLELEID=249806;CLNDN=Chédiak-Higashi_syndrome|not_specified;CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0665;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.4879;1000g2015aug_amr=0.2983;1000g2015aug_all=0.302716;esp6500siv2_all=0.4366;ExAC_ALL=0.3499;ExAC_AFR=0.4977;ExAC_AMR=0.2742;ExAC_EAS=0.0602;ExAC_FIN=0.4284;ExAC_NFE=0.4054;ExAC_OTH=0.3466;ExAC_SAS=0.2054;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,43:84:99:1205,0,1086 1 235972867 rs1063128 T C 829.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.203;DP=76;ExcessHet=3.0103;FS=6.104;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.579;SOR=0.968;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=exonic;Gene=NM_000081,NM_001301365;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LYST:NM_000081:exon5:c.A1251G:p.Q417Q,LYST:NM_001301365:exon5:c.A1251G:p.Q417Q;Gencode=Name\x3eENST00000389793.6,ENST00000389794.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1063128;cosmic70=.;CLNALLELEID=249807;CLNDN=Chédiak-Higashi_syndrome|not_specified;CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.4254;1000g2015aug_afr=0.4887;1000g2015aug_amr=0.2997;1000g2015aug_all=0.303315;esp6500siv2_all=0.4365;ExAC_ALL=0.3500;ExAC_AFR=0.5;ExAC_AMR=0.2741;ExAC_EAS=0.0601;ExAC_FIN=0.4285;ExAC_NFE=0.4055;ExAC_OTH=0.3466;ExAC_SAS=0.2055;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,32:76:99:858,0,1161 1 236032494 rs10754797 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLYST;Func=intronic;Gene=NM_001301365;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2772\x3bName\x3e"419533:AluYk4(SINE)";avsnp150=rs10754797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.876;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.7714;1000g2015aug_afr=0.7148;1000g2015aug_amr=0.7205;1000g2015aug_all=0.76857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236102441 rs12567233 G C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001301365,NM_002508;GeneDetail=dist\x3e55433\x3bdist\x3e36691;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25\x3bName\x3e"419712:(AGG)n(Simple_repeat)";avsnp150=rs12567233;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2863;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1744;1000g2015aug_all=0.289337;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 236102516 rs12568341 A G 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001301365,NM_002508;GeneDetail=dist\x3e55508\x3bdist\x3e36616;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1744;1000g2015aug_all=0.289736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 236102532 rs12568343 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001301365,NM_002508;GeneDetail=dist\x3e55524\x3bdist\x3e36600;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12568343;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1744;1000g2015aug_all=0.289736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236102554 rs12567952 C G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001301365,NM_002508;GeneDetail=dist\x3e55546\x3bdist\x3e36578;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"419713:MIRb(SINE)";avsnp150=rs12567952;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2883;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1744;1000g2015aug_all=0.289736;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236102558 rs12568583 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001301365,NM_002508;GeneDetail=dist\x3e55550\x3bdist\x3e36574;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e323\x3bName\x3e"419713:MIRb(SINE)";avsnp150=rs12568583;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2894;1000g2015aug_eur=0.1889;1000g2015aug_afr=0.2791;1000g2015aug_amr=0.1744;1000g2015aug_all=0.289936;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236205061 rs4584382 C T 388.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264187.6,ENST00000366595.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4584382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.4165;1000g2015aug_afr=0.5439;1000g2015aug_amr=0.5389;1000g2015aug_all=0.55611;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:417,30,0 1 236205090 rs2385052 C T 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264187.6,ENST00000366595.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2385052;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3571;1000g2015aug_sas=0.273;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.0567;1000g2015aug_amr=0.3934;1000g2015aug_all=0.243411;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 236205121 rs4297282 T C 719.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264187.6,ENST00000366595.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4297282;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.4175;1000g2015aug_afr=0.6452;1000g2015aug_amr=0.5519;1000g2015aug_all=0.584864;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:748,57,0 1 236208688 rs10733131 A G 781.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.67;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366595.7,ENST00000264187.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10733131;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7034;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.4324;1000g2015aug_afr=0.6346;1000g2015aug_amr=0.5548;1000g2015aug_all=0.585663;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:810,54,0 1 236208689 rs10733132 T A 781.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366595.7,ENST00000264187.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10733132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:810,54,0 1 236208773 rs10733133 C T 2011.77 PASS AC=2;AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=2.187;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=exonic;Gene=NM_002508;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=NID1:NM_002508:exon3:c.G736A:p.V246I;Gencode=Name\x3eENST00000264187.6,ENST00000366595.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10733133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.5562;1000g2015aug_all=0.58726;esp6500siv2_all=0.4933;ExAC_ALL=0.4858;ExAC_AFR=0.6190;ExAC_AMR=0.5823;ExAC_EAS=0.6800;ExAC_FIN=0.3704;ExAC_NFE=0.4205;ExAC_OTH=0.4405;ExAC_SAS=0.5448;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.76;MutationAssessor_pred=N;FATHMM_score=-0.73;FATHMM_pred=T;phyloP100way_vertebrate=-1.092;phyloP20way_mammalian=0.154;SiPhy_29way_logOdds=7.345;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,59:59:99:2040,177,0 1 236209024 rs3768088 C G 2008.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=2.998;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000264187.6,ENST00000366595.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768088;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.5562;1000g2015aug_all=0.58726;esp6500siv2_all=0.4911;ExAC_ALL=0.5117;ExAC_AFR=0.6248;ExAC_AMR=0.6198;ExAC_EAS=0.6946;ExAC_FIN=0.4056;ExAC_NFE=0.4558;ExAC_OTH=0.4380;ExAC_SAS=0.5504;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,57:57:99:2037,171,0 1 236209081 rs3768089 G A 855.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eNID1;Func=intronic;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366595.7,ENST00000264187.6;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.5777;1000g2015aug_eur=0.4334;1000g2015aug_afr=0.5628;1000g2015aug_amr=0.5403;1000g2015aug_all=0.565495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:884,66,0 1 236228652 rs7548918 C A 86.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.842;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_002508;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7548918;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7014;1000g2015aug_sas=0.5593;1000g2015aug_eur=0.3002;1000g2015aug_afr=0.1747;1000g2015aug_amr=0.451;1000g2015aug_all=0.419329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:66:115,0,66 1 236249044 rs2753435 C T 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002508,NM_003272;GeneDetail=dist\x3e20563\x3bdist\x3e56788;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e100\x3bName\x3e"420056:(TG)n(Simple_repeat)";avsnp150=rs2753435;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.5245;1000g2015aug_all=0.494209;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:74:81,0,74 1 236249046 rs2734821 T C 52.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_002508,NM_003272;GeneDetail=dist\x3e20565\x3bdist\x3e56786;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e100\x3bName\x3e"420056:(TG)n(Simple_repeat)";avsnp150=rs2734821;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6498;1000g2015aug_sas=0.5808;1000g2015aug_eur=0.4374;1000g2015aug_afr=0.208;1000g2015aug_amr=0.5058;1000g2015aug_all=0.457069;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:74:81,0,74 1 236368227 rs1254207 C T 42.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.967;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR137B;Func=intronic;Gene=NM_003272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366592.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1254207;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8433;1000g2015aug_sas=0.6002;1000g2015aug_eur=0.3698;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.6254;1000g2015aug_all=0.683107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:71:71,0,71 1 236368708 rs1254206 T C 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.036;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.633;SOR=0.275;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR137B;Func=intronic;Gene=NM_003272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366592.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1254206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8502;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.3936;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.6282;1000g2015aug_all=0.663339;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,9:16:99:294,0,244 1 236371260 rs1880913 C T 278.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.095;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGPR137B;Func=intronic;Gene=NM_003272;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366592.7;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1880913;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2073;1000g2015aug_sas=0.1667;1000g2015aug_eur=0.1123;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.2767;1000g2015aug_all=0.27496;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,9:23:99:307,0,514 1 236381825 rs1055851 G C 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=exonic;Gene=NM_019891;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=ERO1B:NM_019891:exon16:c.C1395G:p.H465Q;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1055851;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8839;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569289;esp6500siv2_all=0.4313;ExAC_ALL=0.4961;ExAC_AFR=0.4874;ExAC_AMR=0.6997;ExAC_EAS=0.8873;ExAC_FIN=0.4774;ExAC_NFE=0.4121;ExAC_OTH=0.4609;ExAC_SAS=0.5026;SIFT_score=0.465;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=0.982;MutationTaster_pred=P;MutationAssessor_score=-1.525;MutationAssessor_pred=N;FATHMM_score=1.57;FATHMM_pred=T;phyloP100way_vertebrate=0.490;phyloP20way_mammalian=1.047;SiPhy_29way_logOdds=10.575;gerp++gt2=4.62;CADD=1.624;CADD_Phred=13.98;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 236383889 rs2463192 T A 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2463192;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5286;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569289;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:33:75,0,33 1 236383910 rs2463191 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2463191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236384278 rs1405624 G C 458.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.464;DP=31;ExcessHet=3.0103;FS=2.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.85;SOR=1.721;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1405624;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569489;esp6500siv2_all=0.4292;ExAC_ALL=0.5074;ExAC_AFR=0.4960;ExAC_AMR=0.7056;ExAC_EAS=0.8882;ExAC_FIN=0.4846;ExAC_NFE=0.4224;ExAC_OTH=0.4697;ExAC_SAS=0.5211;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:16,15:31:99:487,0,537 1 236384402 rs1405623 A G 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-0.842;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1405623;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 236385360 rs2477587 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.493;DP=23;ExcessHet=3.0103;FS=1.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-0.745;SOR=0.399;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2477587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569489;esp6500siv2_all=0.4320;ExAC_ALL=0.5003;ExAC_AFR=0.4897;ExAC_AMR=0.7075;ExAC_EAS=0.8886;ExAC_FIN=0.4766;ExAC_NFE=0.4164;ExAC_OTH=0.4614;ExAC_SAS=0.5018;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:149,0,339 1 236385379 rs2463188 A G 132.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.056;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=1.417;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2463188;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8849;1000g2015aug_sas=0.5297;1000g2015aug_eur=0.4006;1000g2015aug_afr=0.4803;1000g2015aug_amr=0.5821;1000g2015aug_all=0.569489;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:161,0,264 1 236388346 rs3768092 G A 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.862;DP=49;ExcessHet=3.0103;FS=4.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.712;SOR=1.372;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.124;1000g2015aug_sas=0.1943;1000g2015aug_eur=0.1163;1000g2015aug_afr=0.0575;1000g2015aug_amr=0.1844;1000g2015aug_all=0.126997;esp6500siv2_all=0.1030;ExAC_ALL=0.1375;ExAC_AFR=0.0663;ExAC_AMR=0.2588;ExAC_EAS=0.1108;ExAC_FIN=0.1018;ExAC_NFE=0.1208;ExAC_OTH=0.1123;ExAC_SAS=0.1951;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,20:49:99:518,0,689 1 236393637 rs114781164 C T 110.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.921;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.93;SOR=0.33;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2299\x3bName\x3e"420341:AluSz6(SINE)";avsnp150=rs114781164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0061;1000g2015aug_eur=0.0636;1000g2015aug_afr=0.0023;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0173722;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:89:139,0,89 1 236393654 rs2812471 A G 276.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2299\x3bName\x3e"420341:AluSz6(SINE)";avsnp150=rs2812471;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8449;1000g2015aug_amr=0.9798;1000g2015aug_all=0.95627;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:305,21,0 1 236396335 rs4659636 C T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2407\x3bName\x3e"420346:AluSq2(SINE)";avsnp150=rs4659636;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.1188;1000g2015aug_amr=0.366;1000g2015aug_all=0.318091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 236399442 rs1254194 G T 135.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.114;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.158;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2353\x3bName\x3e"420354:AluSx1(SINE)";avsnp150=rs1254194;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.112;1000g2015aug_amr=0.3631;1000g2015aug_all=0.328874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:164,0,205 1 236416923 rs10082203 C T 137.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.464;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.112;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e180\x3bName\x3e"420391:L2a(LINE)";avsnp150=rs10082203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0962;1000g2015aug_sas=0.1605;1000g2015aug_eur=0.1193;1000g2015aug_afr=0.3306;1000g2015aug_amr=0.219;1000g2015aug_all=0.192292;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,5:14:99:166,0,322 1 236432002 rs1254189 T C 87.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2575\x3bName\x3e"420438:AluY(SINE)";avsnp150=rs1254189;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0694;1000g2015aug_sas=0.3313;1000g2015aug_eur=0.4364;1000g2015aug_afr=0.2814;1000g2015aug_amr=0.255;1000g2015aug_all=0.275958;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:115,9,0 1 236432013 rs1254190 C T 87.28 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=intronic;Gene=NM_019891;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2575\x3bName\x3e"420438:AluY(SINE)";avsnp150=rs1254190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4603;1000g2015aug_sas=0.5982;1000g2015aug_eur=0.5765;1000g2015aug_afr=0.413;1000g2015aug_amr=0.3991;1000g2015aug_all=0.489617;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:9:115,9,0 1 236445212 rs2764567 A G 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eERO1B;Func=UTR5;Gene=NM_019891;GeneDetail=NM_019891:c.-129T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000354619.9;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2764567;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9847;1000g2015aug_eur=1;1000g2015aug_afr=0.8911;1000g2015aug_amr=0.9827;1000g2015aug_all=0.965655;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 236474031 rs6696318 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_019891,NM_145861;GeneDetail=dist\x3e28692\x3bdist\x3e83649;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2331\x3bName\x3e"420532:AluSx1(SINE)";avsnp150=rs6696318;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0407;1000g2015aug_sas=0.3548;1000g2015aug_eur=0.4612;1000g2015aug_afr=0.2458;1000g2015aug_amr=0.2767;1000g2015aug_all=0.273363;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236474112 rs2695048 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_019891,NM_145861;GeneDetail=dist\x3e28773\x3bdist\x3e83568;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2331\x3bName\x3e"420532:AluSx1(SINE)";avsnp150=rs2695048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9569;1000g2015aug_amr=0.9928;1000g2015aug_all=0.98762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236557771 rs966365 G A 4747.77 PASS AC=2;AF=1;AN=2;DP=153;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=exonic;Gene=NM_145861;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EDARADD:NM_145861:exon1:c.G27A:p.M9I;Gencode=Name\x3eENST00000334232.8;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs966365;cosmic70=.;CLNALLELEID=249813;CLNDN=not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLNDISDB=MedGen:CN169374|MedGen:CN239465;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.825;1000g2015aug_afr=0.4682;1000g2015aug_amr=0.8631;1000g2015aug_all=0.776757;esp6500siv2_all=0.7384;ExAC_ALL=0.8308;ExAC_AFR=0.5333;ExAC_AMR=0.9129;ExAC_EAS=0.9191;ExAC_FIN=0.8096;ExAC_NFE=0.8328;ExAC_OTH=0.8499;ExAC_SAS=0.9138;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.683;LRT_pred=U;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.845;MutationAssessor_pred=L;FATHMM_score=-0.73;FATHMM_pred=T;phyloP100way_vertebrate=-0.069;phyloP20way_mammalian=-0.442;SiPhy_29way_logOdds=3.147;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,152:152:99:4776,456,0 1 236557928 rs966364 G A 1174.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=3.193;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334232.8;cytoBand=1q42.3;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs966364;cosmic70=.;CLNALLELEID=433521;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9187;1000g2015aug_sas=0.9366;1000g2015aug_eur=0.825;1000g2015aug_afr=0.4516;1000g2015aug_amr=0.8631;1000g2015aug_all=0.772364;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1203,99,0 1 236572389 rs659901 G A 217.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5,ENST00000334232.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs659901;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3899;1000g2015aug_sas=0.6656;1000g2015aug_eur=0.666;1000g2015aug_afr=0.6589;1000g2015aug_amr=0.7003;1000g2015aug_all=0.613219;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:246,21,0 1 236572475 rs669710 A G 641.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.74;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334232.8,ENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs669710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2927;1000g2015aug_sas=0.501;1000g2015aug_eur=0.5785;1000g2015aug_afr=0.4584;1000g2015aug_amr=0.4899;1000g2015aug_all=0.461861;esp6500siv2_all=0.5447;ExAC_ALL=0.5302;ExAC_AFR=0.4811;ExAC_AMR=0.4290;ExAC_EAS=0.2599;ExAC_FIN=0.5907;ExAC_NFE=0.5932;ExAC_OTH=0.5312;ExAC_SAS=0.4940;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:71:670,71,0 1 236590497 rs1759388 C G 461.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.911;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334232.8,ENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2347\x3bName\x3e"420845:LTR53(LTR)";avsnp150=rs1759388;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.264;1000g2015aug_amr=0.4582;1000g2015aug_all=0.394569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:490,45,0 1 236590563 rs1778861 C T 618.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=1.085;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334232.8,ENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2347\x3bName\x3e"420845:LTR53(LTR)";avsnp150=rs1778861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4481;1000g2015aug_all=0.358227;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:647,66,0 1 236590629 rs636378 C T 611.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5,ENST00000334232.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2347\x3bName\x3e"420845:LTR53(LTR)";avsnp150=rs636378;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2609;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4481;1000g2015aug_all=0.358027;esp6500siv2_all=0.4700;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:640,57,0 1 236590659 rs636048 G C 417.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5,ENST00000334232.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"420846:(T)n(Simple_repeat)";avsnp150=rs636048;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4481;1000g2015aug_all=0.358227;esp6500siv2_all=0.4521;ExAC_ALL=0.5081;ExAC_AFR=0.2102;ExAC_AMR=0.4202;ExAC_EAS=0.2382;ExAC_FIN=0.6225;ExAC_NFE=0.5998;ExAC_OTH=0.5049;ExAC_SAS=0.4747;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:446,39,0 1 236590816 rs635487 T G 195.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=intronic;Gene=NM_080738,NM_145861;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000334232.8,ENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs635487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.5815;1000g2015aug_afr=0.267;1000g2015aug_amr=0.4582;1000g2015aug_all=0.395367;esp6500siv2_all=0.5035;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:224,21,0 1 236647511 rs7513402 T C 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.322;DP=16;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.606;SOR=0.838;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=UTR3;Gene=NM_080738,NM_145861;GeneDetail=NM_080738:c.*1562T>C\x3bNM_145861:c.*1562T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513402;cosmic70=.;CLNALLELEID=279731;CLNDN=Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLNDISDB=MedGen:CN239465;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0952;1000g2015aug_sas=0.3303;1000g2015aug_eur=0.3559;1000g2015aug_afr=0.202;1000g2015aug_amr=0.3285;1000g2015aug_all=0.253994;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,13:16:77:325,0,77 1 236647550 rs3916983 C G 194.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.618;DP=17;ExcessHet=3.0103;FS=4.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.658;SOR=1.255;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=UTR3;Gene=NM_080738,NM_145861;GeneDetail=NM_080738:c.*1601C>G\x3bNM_145861:c.*1601C>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3916983;cosmic70=.;CLNALLELEID=280049;CLNDN=Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLNDISDB=MedGen:CN239465;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0942;1000g2015aug_sas=0.2832;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.1309;1000g2015aug_amr=0.2781;1000g2015aug_all=0.203275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:223,0,215 1 236647736 rs6428955 C T 195.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.588;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.735;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEDARADD;Func=UTR3;Gene=NM_080738,NM_145861;GeneDetail=NM_080738:c.*1787C>T\x3bNM_145861:c.*1787C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000359362.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6428955;cosmic70=.;CLNALLELEID=279734;CLNDN=Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLNDISDB=MedGen:CN239465;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0417;1000g2015aug_sas=0.2301;1000g2015aug_eur=0.2455;1000g2015aug_afr=0.0272;1000g2015aug_amr=0.2017;1000g2015aug_all=0.13778;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,10:19:99:224,0,217 1 236657661 rs1266387 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_145861,NM_201545;GeneDetail=dist\x3e9653\x3bdist\x3e23853;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e333\x3bName\x3e"421011:L2b(LINE)";avsnp150=rs1266387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.994;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236695882 rs2794787 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000341872.10,ENST00000526634.5,ENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2523\x3bName\x3e"421108:AluSq2(SINE)";avsnp150=rs2794787;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.2224;1000g2015aug_amr=0.4784;1000g2015aug_all=0.42492;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 236700628 rs1810661 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526634.5,ENST00000341872.10,ENST00000352231.6,ENST00000416919.6,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1810661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5072;1000g2015aug_all=0.5;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236700807 rs1126407 T A 1621.77 PASS AC=2;AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LGALS8:NM_201544:exon3:c.T56A:p.F19Y,LGALS8:NM_006499:exon4:c.T56A:p.F19Y,LGALS8:NM_201543:exon4:c.T56A:p.F19Y,LGALS8:NM_201545:exon4:c.T56A:p.F19Y;Gencode=Name\x3eENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000323938.10,ENST00000366584.8,ENST00000341872.10,ENST00000526634.5,ENST00000416919.6,ENST00000352231.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1126407;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5072;1000g2015aug_all=0.4998;esp6500siv2_all=0.6184;ExAC_ALL=0.6102;ExAC_AFR=0.4866;ExAC_AMR=0.5158;ExAC_EAS=0.4872;ExAC_FIN=0.7342;ExAC_NFE=0.6833;ExAC_OTH=0.6044;ExAC_SAS=0.4741;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.725;MutationAssessor_pred=N;FATHMM_score=2.74;FATHMM_pred=T;phyloP100way_vertebrate=2.107;phyloP20way_mammalian=0.200;SiPhy_29way_logOdds=10.591;gerp++gt2=5.45;CADD=1.435;CADD_Phred=12.97;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,52:52:99:1650,156,0 1 236700823 rs1041934 T C 1740.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.009;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LGALS8:NM_201544:exon3:c.T72C:p.P24P,LGALS8:NM_006499:exon4:c.T72C:p.P24P,LGALS8:NM_201543:exon4:c.T72C:p.P24P,LGALS8:NM_201545:exon4:c.T72C:p.P24P;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000341872.10,ENST00000526634.5,ENST00000366584.8,ENST00000323938.10,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1041934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5072;1000g2015aug_all=0.5;esp6500siv2_all=0.6180;ExAC_ALL=0.6100;ExAC_AFR=0.4868;ExAC_AMR=0.5151;ExAC_EAS=0.4878;ExAC_FIN=0.7343;ExAC_NFE=0.6831;ExAC_OTH=0.6053;ExAC_SAS=0.4731;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1769,168,0 1 236700857 rs1041935 C T 1952.77 PASS AC=2;AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LGALS8:NM_201544:exon3:c.C106T:p.R36C,LGALS8:NM_006499:exon4:c.C106T:p.R36C,LGALS8:NM_201543:exon4:c.C106T:p.R36C,LGALS8:NM_201545:exon4:c.C106T:p.R36C;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5,ENST00000416919.6,ENST00000352231.6,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1041935;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5072;1000g2015aug_all=0.5;esp6500siv2_all=0.6183;ExAC_ALL=0.6105;ExAC_AFR=0.4864;ExAC_AMR=0.5167;ExAC_EAS=0.4884;ExAC_FIN=0.7351;ExAC_NFE=0.6834;ExAC_OTH=0.6067;ExAC_SAS=0.4735;SIFT_score=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.04;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.018;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.455;MutationAssessor_pred=M;FATHMM_score=3.36;FATHMM_pred=T;phyloP100way_vertebrate=5.543;phyloP20way_mammalian=0.892;SiPhy_29way_logOdds=19.471;gerp++gt2=5.45;CADD=5.441;CADD_Phred=26.1;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,67:67:99:1981,200,0 1 236700982 rs2737706 T C 1334.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000416919.6,ENST00000352231.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2737706;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5072;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1363,123,0 1 236701135 rs2737707 A C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.49;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10,ENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1704\x3bName\x3e"421120:AluJr4(SINE)";avsnp150=rs2737707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.6604;1000g2015aug_amr=0.6311;1000g2015aug_all=0.629593;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 236701169 rs2737708 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10,ENST00000526634.5,ENST00000341872.10,ENST00000352231.6,ENST00000416919.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1704\x3bName\x3e"421120:AluJr4(SINE)";avsnp150=rs2737708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.411;1000g2015aug_eur=0.675;1000g2015aug_afr=0.4463;1000g2015aug_amr=0.5058;1000g2015aug_all=0.499601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236701195 rs2737709 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526634.5,ENST00000341872.10,ENST00000352231.6,ENST00000416919.6,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1704\x3bName\x3e"421120:AluJr4(SINE)";avsnp150=rs2737709;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.411;1000g2015aug_eur=0.675;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5058;1000g2015aug_all=0.499401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236702117 rs2244809 T G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10,ENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6311;1000g2015aug_all=0.63119;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236702153 rs2244808 G A 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000526634.5,ENST00000341872.10,ENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4573;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.675;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5072;1000g2015aug_all=0.495807;esp6500siv2_all=0.6180;ExAC_ALL=0.6085;ExAC_AFR=0.4865;ExAC_AMR=0.5147;ExAC_EAS=0.4755;ExAC_FIN=0.7339;ExAC_NFE=0.6829;ExAC_OTH=0.6020;ExAC_SAS=0.4702;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 236702209 rs1041936 C T 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LGALS8:NM_201544:exon4:c.C165T:p.S55S,LGALS8:NM_006499:exon5:c.C165T:p.S55S,LGALS8:NM_201543:exon5:c.C165T:p.S55S,LGALS8:NM_201545:exon5:c.C165T:p.S55S;Gencode=Name\x3eENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10,ENST00000526634.5,ENST00000341872.10,ENST00000352231.6,ENST00000416919.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1041936;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4732;1000g2015aug_sas=0.3988;1000g2015aug_eur=0.6014;1000g2015aug_afr=0.2231;1000g2015aug_amr=0.464;1000g2015aug_all=0.417133;esp6500siv2_all=0.4799;ExAC_ALL=0.5463;ExAC_AFR=0.2863;ExAC_AMR=0.4797;ExAC_EAS=0.4810;ExAC_FIN=0.6534;ExAC_NFE=0.6197;ExAC_OTH=0.5486;ExAC_SAS=0.4527;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 236702210 rs1041937 A G 691.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.69;SOR=1.244;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LGALS8:NM_201544:exon4:c.A166G:p.M56V,LGALS8:NM_006499:exon5:c.A166G:p.M56V,LGALS8:NM_201543:exon5:c.A166G:p.M56V,LGALS8:NM_201545:exon5:c.A166G:p.M56V;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000526634.5,ENST00000341872.10,ENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1041937;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.4775;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6311;1000g2015aug_all=0.630391;esp6500siv2_all=0.6975;ExAC_ALL=0.6754;ExAC_AFR=0.6807;ExAC_AMR=0.6306;ExAC_EAS=0.6336;ExAC_FIN=0.7424;ExAC_NFE=0.7159;ExAC_OTH=0.6634;ExAC_SAS=0.5362;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.617;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.5;MutationAssessor_pred=N;FATHMM_score=3.53;FATHMM_pred=T;phyloP100way_vertebrate=-0.115;phyloP20way_mammalian=-0.417;SiPhy_29way_logOdds=4.361;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:720,48,0 1 236702374 rs2472126 G A 1662.77 PASS AC=2;AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=0.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LGALS8:NM_201544:exon4:c.G330A:p.L110L,LGALS8:NM_006499:exon5:c.G330A:p.L110L,LGALS8:NM_201543:exon5:c.G330A:p.L110L,LGALS8:NM_201545:exon5:c.G330A:p.L110L;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000341872.10,ENST00000526634.5,ENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2472126;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4752;1000g2015aug_sas=0.3947;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.2738;1000g2015aug_amr=0.464;1000g2015aug_all=0.433307;esp6500siv2_all=0.5661;ExAC_ALL=0.5585;ExAC_AFR=0.3274;ExAC_AMR=0.4851;ExAC_EAS=0.4869;ExAC_FIN=0.6867;ExAC_NFE=0.6305;ExAC_OTH=0.5520;ExAC_SAS=0.4508;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:1691,168,0 1 236702447 rs12744425 T G 1802.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000341872.10,ENST00000526634.5,ENST00000366584.8,ENST00000323938.10,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12744425;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3819;1000g2015aug_sas=0.3906;1000g2015aug_eur=0.671;1000g2015aug_afr=0.4085;1000g2015aug_amr=0.4971;1000g2015aug_all=0.464657;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1831,123,0 1 236702450 rs12744427 T C 1771.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12744427;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.41;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.444;1000g2015aug_amr=0.5072;1000g2015aug_all=0.499201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1800,120,0 1 236702475 rs11807205 A G 911.77 PASS AC=2;AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.688;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11807205;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.3793;1000g2015aug_eur=0.672;1000g2015aug_afr=0.4425;1000g2015aug_amr=0.5;1000g2015aug_all=0.491014;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,29:29:87:940,87,0 1 236702517 rs11807542 T C 464.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000341872.10,ENST00000526634.5,ENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11807542;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4191;1000g2015aug_amr=0.5072;1000g2015aug_all=0.491813;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:493,36,0 1 236702552 rs12758021 G A 196.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000323938.10,ENST00000366584.8,ENST00000341872.10,ENST00000526634.5,ENST00000416919.6,ENST00000352231.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12758021;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.444;1000g2015aug_amr=0.5072;1000g2015aug_all=0.498403;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:225,15,0 1 236702616 rs12759359 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e318\x3bName\x3e"421122:MER102b(DNA)";avsnp150=rs12759359;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.411;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5072;1000g2015aug_all=0.4998;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236703687 rs2799413 T C 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416919.6,ENST00000352231.6,ENST00000433131.1,ENST00000526634.5,ENST00000341872.10,ENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799413;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5101;1000g2015aug_all=0.503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236703700 rs2244659 A G 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000352231.6,ENST00000416919.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244659;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5101;1000g2015aug_all=0.503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 236703734 rs2243405 T C 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341872.10,ENST00000526634.5,ENST00000433131.1,ENST00000352231.6,ENST00000416919.6,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5,ENST00000366584.8,ENST00000323938.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243405;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6577;1000g2015aug_sas=0.5072;1000g2015aug_eur=0.7028;1000g2015aug_afr=0.6657;1000g2015aug_amr=0.6268;1000g2015aug_all=0.635184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 236703767 rs2758994 C T 384.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000416919.6,ENST00000352231.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758994;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4162;1000g2015aug_eur=0.6859;1000g2015aug_afr=0.4455;1000g2015aug_amr=0.5101;1000g2015aug_all=0.503195;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:413,33,0 1 236705434 rs2799411 C T 185.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000341872.10,ENST00000526634.5,ENST00000433131.1,ENST00000352231.6,ENST00000416919.6,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5,ENST00000366584.8,ENST00000323938.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799411;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.444;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:214,18,0 1 236706352 rs2758174 A C 545.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=2.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000433131.1,ENST00000416919.6,ENST00000352231.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=0.6170;ExAC_ALL=0.6107;ExAC_AFR=0.4876;ExAC_AMR=0.5164;ExAC_EAS=0.4912;ExAC_FIN=0.7347;ExAC_NFE=0.6839;ExAC_OTH=0.6075;ExAC_SAS=0.4708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:574,51,0 1 236706371 rs2758175 A G 410.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000416919.6,ENST00000352231.6,ENST00000433131.1,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758175;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=0.6191;ExAC_ALL=0.6111;ExAC_AFR=0.4899;ExAC_AMR=0.5163;ExAC_EAS=0.4914;ExAC_FIN=0.7347;ExAC_NFE=0.6842;ExAC_OTH=0.6053;ExAC_SAS=0.4708;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:439,39,0 1 236706425 rs2244267 G A 189.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5,ENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244267;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:218,18,0 1 236706467 rs2244261 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000352231.6,ENST00000416919.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244261;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236706671 rs2243530 T A 1082.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000433131.1,ENST00000416919.6,ENST00000352231.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243530;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.7622;1000g2015aug_all=0.677716;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1111,84,0 1 236706780 rs2243527 C T 3444.77 PASS AC=2;AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=1.679;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10,ENST00000526634.5,ENST00000341872.10,ENST00000433131.1,ENST00000352231.6,ENST00000416919.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243527;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.7622;1000g2015aug_all=0.677915;esp6500siv2_all=.;ExAC_ALL=0.7361;ExAC_AFR=0.7364;ExAC_AMR=0.7818;ExAC_EAS=0.6947;ExAC_FIN=0.7805;ExAC_NFE=0.7636;ExAC_OTH=0.7147;ExAC_SAS=0.6078;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,103:103:99:3473,309,0 1 236706862 rs2243525 G C 5998.77 PASS AC=2;AF=1;AN=2;DP=190;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=LGALS8:NM_201544:exon8:c.G552C:p.R184S,LGALS8:NM_201543:exon9:c.G552C:p.R184S,LGALS8:NM_006499:exon10:c.G678C:p.R226S,LGALS8:NM_201545:exon10:c.G678C:p.R226S;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000433131.1,ENST00000352231.6,ENST00000416919.6,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2243525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6865;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7396;1000g2015aug_afr=0.7005;1000g2015aug_amr=0.7622;1000g2015aug_all=0.677716;esp6500siv2_all=0.7427;ExAC_ALL=0.7188;ExAC_AFR=0.7169;ExAC_AMR=0.7761;ExAC_EAS=0.6589;ExAC_FIN=0.7695;ExAC_NFE=0.7474;ExAC_OTH=0.7080;ExAC_SAS=0.5758;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=2.83;FATHMM_pred=T;phyloP100way_vertebrate=-1.606;phyloP20way_mammalian=-0.331;SiPhy_29way_logOdds=2.282;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,190:190:99:6027,569,0 1 236707007 rs2799410 C T 4285.77 PASS AC=2;AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=1.542;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366584.8,ENST00000323938.10,ENST00000450372.6,ENST00000525042.1,ENST00000526589.5,ENST00000527974.5,ENST00000433131.1,ENST00000416919.6,ENST00000352231.6,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799410;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4831;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2239;1000g2015aug_amr=0.4769;1000g2015aug_all=0.429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,138:138:99:4314,412,0 1 236707036 rs2794786 A T 4217.77 PASS AC=2;AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000526634.5,ENST00000341872.10,ENST00000433131.1,ENST00000352231.6,ENST00000416919.6,ENST00000526589.5,ENST00000527974.5,ENST00000450372.6,ENST00000525042.1,ENST00000366584.8,ENST00000323938.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794786;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,97:97:99:4246,291,0 1 236707045 rs2799409 C T 4064.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=2.25;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000416919.6,ENST00000352231.6,ENST00000433131.1,ENST00000526634.5,ENST00000341872.10;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6769;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.500399;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:4093,277,0 1 236708224 rs2244063 A C 2463.77 PASS AC=2;AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=0.859;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5,ENST00000323938.10,ENST00000366584.8,ENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2244063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=0.6182;ExAC_ALL=0.6133;ExAC_AFR=0.4885;ExAC_AMR=0.5178;ExAC_EAS=0.4912;ExAC_FIN=0.7348;ExAC_NFE=0.6846;ExAC_OTH=0.6067;ExAC_SAS=0.4811;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,76:76:99:2492,228,0 1 236708316 rs2758181 A G 1483.77 PASS AC=2;AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000352231.6,ENST00000416919.6,ENST00000433131.1,ENST00000526634.5,ENST00000341872.10,ENST00000323938.10,ENST00000366584.8,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,42:42:99:1512,126,0 1 236711297 rs2254823 A T 384.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=intronic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000525042.1,ENST00000450372.6,ENST00000527974.5,ENST00000526589.5,ENST00000323938.10,ENST00000366584.8,ENST00000341872.10,ENST00000526634.5,ENST00000352231.6,ENST00000416919.6,ENST00000433131.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254823;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5101;1000g2015aug_all=0.500399;esp6500siv2_all=0.6183;ExAC_ALL=0.6110;ExAC_AFR=0.4862;ExAC_AMR=0.5166;ExAC_EAS=0.4909;ExAC_FIN=0.7346;ExAC_NFE=0.6839;ExAC_OTH=0.6067;ExAC_SAS=0.4739;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:413,33,0 1 236711323 rs15701 T C 507.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=exonic;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=LGALS8:NM_201544:exon10:c.T816C:p.Y272Y,LGALS8:NM_201543:exon11:c.T816C:p.Y272Y,LGALS8:NM_006499:exon12:c.T942C:p.Y314Y,LGALS8:NM_201545:exon12:c.T942C:p.Y314Y;Gencode=Name\x3eENST00000526634.5,ENST00000341872.10,ENST00000416919.6,ENST00000352231.6,ENST00000433131.1,ENST00000527974.5,ENST00000526589.5,ENST00000525042.1,ENST00000450372.6,ENST00000323938.10,ENST00000366584.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs15701;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5101;1000g2015aug_all=0.500399;esp6500siv2_all=0.6182;ExAC_ALL=0.6105;ExAC_AFR=0.4863;ExAC_AMR=0.5165;ExAC_EAS=0.4911;ExAC_FIN=0.7343;ExAC_NFE=0.6839;ExAC_OTH=0.6040;ExAC_SAS=0.4710;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:536,45,0 1 236711586 rs1160 G A 1426.77 PASS AC=2;AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=UTR3;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=NM_006499:c.*125G>A\x3bNM_201543:c.*125G>A\x3bNM_201544:c.*125G>A\x3bNM_201545:c.*125G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000323938.10,ENST00000366584.8,ENST00000450372.6,ENST00000526589.5,ENST00000416919.6,ENST00000433131.1,ENST00000341872.10,ENST00000526634.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1160;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4448;1000g2015aug_amr=0.5086;1000g2015aug_all=0.5002;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,43:43:99:1455,129,0 1 236711810 rs2758997 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8;Func=UTR3;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=NM_006499:c.*349A>G\x3bNM_201543:c.*349A>G\x3bNM_201544:c.*349A>G\x3bNM_201545:c.*349A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000433131.1,ENST00000416919.6,ENST00000341872.10,ENST00000526634.5,ENST00000366584.8,ENST00000323938.10,ENST00000450372.6,ENST00000526589.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758997;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6855;1000g2015aug_sas=0.5481;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.7622;1000g2015aug_all=0.681709;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236714064 rs6989 A C 871.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLGALS8,HEATR1;Func=UTR3;Gene=NM_006499,NM_018072,NM_201543,NM_201544,NM_201545;GeneDetail=NM_006499:c.*2603A>C\x3bNM_018072:c.*138T>G\x3bNM_201543:c.*2603A>C\x3bNM_201544:c.*2603A>C\x3bNM_201545:c.*2603A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366584.8,ENST00000366581.6,ENST00000526589.5,ENST00000450372.6,ENST00000416919.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6989;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.675;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.5086;1000g2015aug_all=0.497005;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:900,78,0 1 236714335 rs2254487 C T 384.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=2.494;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1,LGALS8;Func=UTR3;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=NM_006499:c.*2874C>T\x3bNM_201543:c.*2874C>T\x3bNM_201544:c.*2874C>T\x3bNM_201545:c.*2874C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000416919.6,ENST00000366582.7,ENST00000526589.5,ENST00000366581.6,ENST00000450372.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.4741;1000g2015aug_all=0.426917;esp6500siv2_all=0.5473;ExAC_ALL=0.6167;ExAC_AFR=0.3305;ExAC_AMR=0.5399;ExAC_EAS=0.5508;ExAC_FIN=0.7686;ExAC_NFE=0.6839;ExAC_OTH=0.5950;ExAC_SAS=0.5085;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:413,33,0 1 236714384 rs2254483 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1,LGALS8;Func=UTR3;Gene=NM_006499,NM_201543,NM_201544,NM_201545;GeneDetail=NM_006499:c.*2923G>A\x3bNM_201543:c.*2923G>A\x3bNM_201544:c.*2923G>A\x3bNM_201545:c.*2923G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450372.6,ENST00000526589.5,ENST00000366581.6,ENST00000366582.7,ENST00000416919.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2254483;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.5086;1000g2015aug_all=0.497604;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236716558 rs1475134 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475134;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5072;1000g2015aug_all=0.484625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236716686 rs1475133 G A 927.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=4.091;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475133;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6815;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.7622;1000g2015aug_all=0.673922;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:956,72,0 1 236716741 rs1475132 G A 1654.77 PASS AC=2;AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1475132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.5101;1000g2015aug_all=0.485224;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,44:44:99:1683,132,0 1 236716959 rs2275685 C T 3731.77 PASS AC=2;AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.15;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon43:c.G6159A:p.S2053S;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275685;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5072;1000g2015aug_all=0.484625;esp6500siv2_all=0.6013;ExAC_ALL=0.6055;ExAC_AFR=0.4302;ExAC_AMR=0.5151;ExAC_EAS=0.4906;ExAC_FIN=0.7349;ExAC_NFE=0.6839;ExAC_OTH=0.6024;ExAC_SAS=0.4707;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,119:119:99:3760,357,0 1 236717104 rs2275686 A G 1037.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.448;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275686;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5086;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1066,96,0 1 236717926 rs2275687 T C 1061.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon42:c.A6050G:p.E2017G;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275687;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5086;1000g2015aug_all=0.484824;esp6500siv2_all=0.6014;ExAC_ALL=0.6056;ExAC_AFR=0.4306;ExAC_AMR=0.5149;ExAC_EAS=0.4907;ExAC_FIN=0.7340;ExAC_NFE=0.6842;ExAC_OTH=0.6035;ExAC_SAS=0.4709;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.555;MutationAssessor_pred=L;FATHMM_score=-0.29;FATHMM_pred=T;phyloP100way_vertebrate=7.278;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=16.040;gerp++gt2=5.65;CADD=5.291;CADD_Phred=25.7;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1090,93,0 1 236718421 rs6668716 G C 138.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668716;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5086;1000g2015aug_all=0.484824;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:166,12,0 1 236718524 rs6668848 G C 468.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668848;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.1914;1000g2015aug_amr=0.4654;1000g2015aug_all=0.410543;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:497,39,0 1 236718561 rs6668926 G A 851.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.893;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6668926;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5072;1000g2015aug_all=0.484625;esp6500siv2_all=0.6013;ExAC_ALL=0.6092;ExAC_AFR=0.4302;ExAC_AMR=0.5150;ExAC_EAS=0.4900;ExAC_FIN=0.7340;ExAC_NFE=0.6853;ExAC_OTH=0.6104;ExAC_SAS=0.4824;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:880,75,0 1 236718620 rs1126627 T C 1337.77 PASS AC=2;AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=1.151;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon41:c.A5899G:p.N1967D;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1126627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.5086;1000g2015aug_all=0.484824;esp6500siv2_all=0.6015;ExAC_ALL=0.6058;ExAC_AFR=0.4302;ExAC_AMR=0.5150;ExAC_EAS=0.4910;ExAC_FIN=0.7340;ExAC_NFE=0.6843;ExAC_OTH=0.6035;ExAC_SAS=0.4718;SIFT_score=0.36;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.015;MutationTaster_pred=P;MutationAssessor_score=0.385;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_pred=T;phyloP100way_vertebrate=2.386;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=15.408;gerp++gt2=5.3;CADD=2.103;CADD_Phred=16.87;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1366,120,0 1 236719135 rs1885532 T C 1958.77 PASS AC=2;AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.46;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon39:c.A5619G:p.E1873E;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9593;1000g2015aug_sas=0.8436;1000g2015aug_eur=0.8022;1000g2015aug_afr=0.8775;1000g2015aug_amr=0.8833;1000g2015aug_all=0.873003;esp6500siv2_all=0.8408;ExAC_ALL=0.8414;ExAC_AFR=0.8756;ExAC_AMR=0.9182;ExAC_EAS=0.9619;ExAC_FIN=0.8442;ExAC_NFE=0.8107;ExAC_OTH=0.8117;ExAC_SAS=0.8276;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,60:60:99:1987,180,0 1 236719193 rs1885533 A G 2262.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon39:c.T5561C:p.V1854A;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885533;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4782;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5086;1000g2015aug_all=0.485024;esp6500siv2_all=0.6014;ExAC_ALL=0.6055;ExAC_AFR=0.4303;ExAC_AMR=0.5148;ExAC_EAS=0.4902;ExAC_FIN=0.7340;ExAC_NFE=0.6842;ExAC_OTH=0.6035;ExAC_SAS=0.4708;SIFT_score=0.906;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.062;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.79;MutationAssessor_pred=L;FATHMM_score=-0.09;FATHMM_pred=T;phyloP100way_vertebrate=1.276;phyloP20way_mammalian=0.237;SiPhy_29way_logOdds=6.413;gerp++gt2=2.76;CADD=1.234;CADD_Phred=11.92;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2291,219,0 1 236719259 rs1885534 G A 1835.77 PASS AC=2;AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1885534;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3839;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.034;1000g2015aug_amr=0.4582;1000g2015aug_all=0.35004;esp6500siv2_all=0.4548;ExAC_ALL=0.5298;ExAC_AFR=0.1115;ExAC_AMR=0.4728;ExAC_EAS=0.3990;ExAC_FIN=0.7196;ExAC_NFE=0.6267;ExAC_OTH=0.5407;ExAC_SAS=0.4330;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,54:54:99:1864,162,0 1 236719688 rs1407518 A G 456.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=2.147;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1407518;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5143;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6297;1000g2015aug_all=0.621805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:485,39,0 1 236720761 rs2799404 T C 1819.77 PASS AC=2;AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=2.925;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799404;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6297;1000g2015aug_all=0.614816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,50:50:99:1848,150,0 1 236720833 rs2759005 C T 730.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2759005;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.3865;1000g2015aug_amr=0.5072;1000g2015aug_all=0.484625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:759,57,0 1 236721610 rs2275688 G A 1016.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon36:c.C5131T:p.L1711L;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275688;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6297;1000g2015aug_all=0.614816;esp6500siv2_all=0.6929;ExAC_ALL=0.6731;ExAC_AFR=0.6264;ExAC_AMR=0.6335;ExAC_EAS=0.6327;ExAC_FIN=0.7464;ExAC_NFE=0.7187;ExAC_OTH=0.6652;ExAC_SAS=0.5379;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,34:34:99:1045,102,0 1 236721660 rs2275689 T C 1468.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=1.464;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon36:c.A5081G:p.N1694S;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275689;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6825;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.702;1000g2015aug_amr=0.7622;1000g2015aug_all=0.677316;esp6500siv2_all=0.7429;ExAC_ALL=0.7187;ExAC_AFR=0.7180;ExAC_AMR=0.7763;ExAC_EAS=0.6533;ExAC_FIN=0.7700;ExAC_NFE=0.7478;ExAC_OTH=0.7075;ExAC_SAS=0.5752;SIFT_score=0.741;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.362;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.535;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;phyloP100way_vertebrate=-1.037;phyloP20way_mammalian=-2.333;SiPhy_29way_logOdds=10.491;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1497,138,0 1 236722182 rs819432 A T 434.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs819432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9985;1000g2015aug_amr=1;1000g2015aug_all=0.999601;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:463,39,0 1 236722318 rs115054974 T C 1173.77 PASS AC=2;AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=0.746;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon35:c.A4888G:p.N1630D;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs115054974;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0041;1000g2015aug_eur=0.007;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0043;1000g2015aug_all=0.00319489;esp6500siv2_all=0.0069;ExAC_ALL=0.0068;ExAC_AFR=0.0013;ExAC_AMR=0.0029;ExAC_EAS=0.0001;ExAC_FIN=0.0026;ExAC_NFE=0.0102;ExAC_OTH=0.0088;ExAC_SAS=0.0046;SIFT_score=0.407;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.195;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=1.58;FATHMM_pred=T;phyloP100way_vertebrate=1.018;phyloP20way_mammalian=0.043;SiPhy_29way_logOdds=16.291;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,37:37:99:1202,111,0 1 236722489 rs2146122 C T 708.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.708;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2146122;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.4785;1000g2015aug_eur=0.7097;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6326;1000g2015aug_all=0.615615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:737,69,0 1 236723177 rs10754576 G A 989.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754576;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.4784;1000g2015aug_all=0.429113;esp6500siv2_all=0.4851;ExAC_ALL=0.5637;ExAC_AFR=0.2915;ExAC_AMR=0.4818;ExAC_EAS=0.4827;ExAC_FIN=0.7191;ExAC_NFE=0.6422;ExAC_OTH=0.5654;ExAC_SAS=0.4553;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:1018,69,0 1 236723178 rs10754577 C A 989.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=2.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754577;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2277;1000g2015aug_amr=0.4784;1000g2015aug_all=0.429113;esp6500siv2_all=0.4851;ExAC_ALL=0.5639;ExAC_AFR=0.2916;ExAC_AMR=0.4816;ExAC_EAS=0.4831;ExAC_FIN=0.7197;ExAC_NFE=0.6423;ExAC_OTH=0.5654;ExAC_SAS=0.4559;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:69:1018,69,0 1 236724504 rs1077439 G A 640.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077439;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.621;1000g2015aug_all=0.578874;esp6500siv2_all=0.6432;ExAC_ALL=0.6634;ExAC_AFR=0.4898;ExAC_AMR=0.6253;ExAC_EAS=0.6319;ExAC_FIN=0.7461;ExAC_NFE=0.7175;ExAC_OTH=0.6575;ExAC_SAS=0.5635;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:669,63,0 1 236724605 rs1077438 G T 668.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=0.874;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077438;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.4493;1000g2015aug_amr=0.621;1000g2015aug_all=0.578674;esp6500siv2_all=0.6451;ExAC_ALL=0.6630;ExAC_AFR=0.4872;ExAC_AMR=0.625;ExAC_EAS=0.6314;ExAC_FIN=0.7465;ExAC_NFE=0.7175;ExAC_OTH=0.6575;ExAC_SAS=0.5634;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:697,66,0 1 236724715 rs1077437 T G 601.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=1.402;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077437;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.621;1000g2015aug_all=0.578874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:630,60,0 1 236724766 rs1077436 C T 328.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1077436;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.621;1000g2015aug_all=0.578474;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:357,33,0 1 236729458 rs2564744 G C 262.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.22;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4722;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.4625;1000g2015aug_all=0.367612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:291,21,0 1 236729867 rs2758172 C T 1083.77 PASS AC=2;AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=1.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758172;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2542;1000g2015aug_amr=0.487;1000g2015aug_all=0.4373;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1112,99,0 1 236730323 rs2799432 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1549\x3bName\x3e"421156:AluJr(SINE)";avsnp150=rs2799432;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7078;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6311;1000g2015aug_all=0.621805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236730363 rs2564743 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1549\x3bName\x3e"421156:AluJr(SINE)";avsnp150=rs2564743;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.6362;1000g2015aug_afr=0.2269;1000g2015aug_amr=0.4841;1000g2015aug_all=0.429712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236732145 rs2794779 C G 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794779;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6538;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7038;1000g2015aug_afr=0.6074;1000g2015aug_amr=0.6282;1000g2015aug_all=0.620607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236732198 rs12135604 C A 192.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e25\x3bName\x3e"421160:(A)n(Simple_repeat)";avsnp150=rs12135604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6171;1000g2015aug_sas=0.4908;1000g2015aug_eur=0.7018;1000g2015aug_afr=0.3563;1000g2015aug_amr=0.6916;1000g2015aug_all=0.550919;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:221,18,0 1 236735319 rs2246431 T C 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"421167:(TACA)n(Simple_repeat)";avsnp150=rs2246431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6806;1000g2015aug_sas=0.5133;1000g2015aug_eur=0.7406;1000g2015aug_afr=0.6997;1000g2015aug_amr=0.7622;1000g2015aug_all=0.676318;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 236735939 rs2853602 T C 3028.77 PASS AC=2;AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2853602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.3926;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.464;1000g2015aug_all=0.369409;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,88:88:99:3057,264,0 1 236739416 rs2115740 C T 286.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2115740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.6095;1000g2015aug_all=0.560104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:315,30,0 1 236739866 rs2794773 A T 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794773;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.6095;1000g2015aug_all=0.559704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 236739888 rs2853596 T A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2853596;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4632;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.4274;1000g2015aug_amr=0.6095;1000g2015aug_all=0.559704;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236740039 rs6658793 G C 1131.77 PASS AC=2;AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.235;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6658793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.4642;1000g2015aug_eur=0.7008;1000g2015aug_afr=0.4259;1000g2015aug_amr=0.6095;1000g2015aug_all=0.559505;esp6500siv2_all=0.6351;ExAC_ALL=0.6566;ExAC_AFR=0.4686;ExAC_AMR=0.6219;ExAC_EAS=0.6322;ExAC_FIN=0.7359;ExAC_NFE=0.7117;ExAC_OTH=0.6486;ExAC_SAS=0.5314;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,33:33:99:1160,99,0 1 236744712 rs4518892 C A 653.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.52;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon20:c.G2565T:p.V855V;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4518892;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4131;1000g2015aug_eur=0.671;1000g2015aug_afr=0.1316;1000g2015aug_amr=0.4957;1000g2015aug_all=0.414736;esp6500siv2_all=0.5215;ExAC_ALL=0.5896;ExAC_AFR=0.2084;ExAC_AMR=0.5025;ExAC_EAS=0.4913;ExAC_FIN=0.7240;ExAC_NFE=0.6795;ExAC_OTH=0.5955;ExAC_SAS=0.4900;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:682,54,0 1 236746275 rs2794769 G C 2391.77 PASS AC=2;AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794769;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=0.5803;ExAC_ALL=0.6247;ExAC_AFR=0.3578;ExAC_AMR=0.6042;ExAC_EAS=0.6298;ExAC_FIN=0.7270;ExAC_NFE=0.6867;ExAC_OTH=0.6242;ExAC_SAS=0.5095;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,70:70:99:2420,209,0 1 236746443 rs2794768 C T 1837.77 PASS AC=2;AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon18:c.G2295A:p.V765V;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794768;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=0.5803;ExAC_ALL=0.6237;ExAC_AFR=0.3546;ExAC_AMR=0.6043;ExAC_EAS=0.6307;ExAC_FIN=0.7268;ExAC_NFE=0.6863;ExAC_OTH=0.6225;ExAC_SAS=0.5088;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,61:61:99:1866,183,0 1 236748505 rs1006456 T C 1037.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon17:c.A2061G:p.L687L;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006456;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=0.5802;ExAC_ALL=0.6248;ExAC_AFR=0.3569;ExAC_AMR=0.6048;ExAC_EAS=0.6319;ExAC_FIN=0.7273;ExAC_NFE=0.6868;ExAC_OTH=0.6242;ExAC_SAS=0.5103;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,39:39:99:1066,116,0 1 236748630 rs1006455 C T 102.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006455;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:130,9,0 1 236748636 rs1006454 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1006454;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4762;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.2247;1000g2015aug_amr=0.4841;1000g2015aug_all=0.428315;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236749022 rs10925166 G A 241.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:270,18,0 1 236749026 rs10925167 T A 154.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.81;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6508;1000g2015aug_sas=0.4417;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.2995;1000g2015aug_amr=0.5893;1000g2015aug_all=0.508786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:183,18,0 1 236749348 rs2794764 C T 279.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794764;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:308,27,0 1 236749433 rs2799421 A C 104.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799421;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:132,9,0 1 236749649 rs2794763 T C 868.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon15:c.A1819G:p.M607V;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4712;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.6223;1000g2015aug_afr=0.0348;1000g2015aug_amr=0.464;1000g2015aug_all=0.36901;esp6500siv2_all=0.4562;ExAC_ALL=0.5368;ExAC_AFR=0.1124;ExAC_AMR=0.4760;ExAC_EAS=0.4889;ExAC_FIN=0.7108;ExAC_NFE=0.6262;ExAC_OTH=0.5485;ExAC_SAS=0.4373;SIFT_score=0.015;SIFT_pred=D;Polyphen2_HDIV_score=0.584;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.055;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.729;MutationTaster_pred=P;MutationAssessor_score=2.535;MutationAssessor_pred=M;FATHMM_score=0.63;FATHMM_pred=T;phyloP100way_vertebrate=4.245;phyloP20way_mammalian=1.061;SiPhy_29way_logOdds=15.755;gerp++gt2=5.42;CADD=1.992;CADD_Phred=16.16;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:897,84,0 1 236749817 rs2799420 C T 503.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=2.049;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2799420;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6518;1000g2015aug_sas=0.453;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3003;1000g2015aug_amr=0.5922;1000g2015aug_all=0.51857;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:532,48,0 1 236753982 rs2564740 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564740;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 236755170 rs2794760 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5184;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.557708;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 236755427 rs2794759 A G 545.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794759;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=0.6057;ExAC_ALL=0.6565;ExAC_AFR=0.3790;ExAC_AMR=0.6169;ExAC_EAS=0.7306;ExAC_FIN=0.7355;ExAC_NFE=0.7102;ExAC_OTH=0.6555;ExAC_SAS=0.5662;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:574,51,0 1 236755814 rs2794757 G A 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794757;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7232;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559305;esp6500siv2_all=0.6012;ExAC_ALL=0.6311;ExAC_AFR=0.3850;ExAC_AMR=0.5974;ExAC_EAS=0.6987;ExAC_FIN=0.7258;ExAC_NFE=0.6855;ExAC_OTH=0.6355;ExAC_SAS=0.5618;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 236755837 rs2564739 C T 152.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon10:c.G1290A:p.R430R;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564739;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=0.6017;ExAC_ALL=0.6416;ExAC_AFR=0.3838;ExAC_AMR=0.6024;ExAC_EAS=0.7156;ExAC_FIN=0.7252;ExAC_NFE=0.6958;ExAC_OTH=0.6409;ExAC_SAS=0.5634;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:180,12,0 1 236757200 rs2564738 A G 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2564738;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 236757229 rs2794754 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794754;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236758887 rs2794751 T C 1464.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=HEATR1:NM_018072:exon8:c.A1043G:p.H348R;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794751;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5276;1000g2015aug_eur=0.6998;1000g2015aug_afr=0.329;1000g2015aug_amr=0.6009;1000g2015aug_all=0.559505;esp6500siv2_all=0.6056;ExAC_ALL=0.6549;ExAC_AFR=0.3781;ExAC_AMR=0.6174;ExAC_EAS=0.7302;ExAC_FIN=0.7358;ExAC_NFE=0.7100;ExAC_OTH=0.6501;ExAC_SAS=0.5615;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.037;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.04;MutationAssessor_pred=N;FATHMM_score=1.13;FATHMM_pred=T;phyloP100way_vertebrate=0.219;phyloP20way_mammalian=0.040;SiPhy_29way_logOdds=5.594;gerp++gt2=2.97;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1493,153,0 1 236759060 rs2794750 T C 769.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794750;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7242;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.6849;1000g2015aug_afr=0.3177;1000g2015aug_amr=0.5937;1000g2015aug_all=0.550519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:798,60,0 1 236759964 rs2758163 G T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2758163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.753;1000g2015aug_sas=0.5787;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.7738;1000g2015aug_all=0.714058;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236760368 rs2564737 T C 639.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.5;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e731\x3bName\x3e"421207:AluJo(SINE)";avsnp150=rs2564737;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.6322;1000g2015aug_afr=0.2496;1000g2015aug_amr=0.4899;1000g2015aug_all=0.435903;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:668,54,0 1 236767072 rs1529540 A G 263.8 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366579.1,ENST00000366581.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1529540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.545;1000g2015aug_eur=0.6938;1000g2015aug_afr=0.3132;1000g2015aug_amr=0.7147;1000g2015aug_all=0.578874;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 236767176 rs1529541 C G 1732.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=2.554;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=intronic;Gene=NM_018072;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366582.7,ENST00000366581.6,ENST00000366579.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1529541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4772;1000g2015aug_sas=0.4029;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.2262;1000g2015aug_amr=0.4856;1000g2015aug_all=0.428514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1761,126,0 1 236767330 rs10802551 A G 4679.77 PASS AC=2;AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eHEATR1;Func=exonic;Gene=NM_018072;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=HEATR1:NM_018072:exon2:c.T66C:p.S22S;Gencode=Name\x3eENST00000366579.1,ENST00000366581.6,ENST00000366582.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802551;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.752;1000g2015aug_sas=0.5429;1000g2015aug_eur=0.6928;1000g2015aug_afr=0.329;1000g2015aug_amr=0.7205;1000g2015aug_all=0.583267;esp6500siv2_all=0.6013;ExAC_ALL=0.6658;ExAC_AFR=0.3842;ExAC_AMR=0.7372;ExAC_EAS=0.7505;ExAC_FIN=0.7484;ExAC_NFE=0.7011;ExAC_OTH=0.6586;ExAC_SAS=0.5738;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,155:155:99:4708,465,0 1 236796321 rs71532030 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.61;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018072,NM_001103;GeneDetail=dist\x3e28480\x3bdist\x3e53433;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e268\x3bName\x3e"421284:(CTTT)n(Simple_repeat)";avsnp150=rs71532030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236799514 rs7530563 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018072,NM_001103;GeneDetail=dist\x3e31673\x3bdist\x3e50240;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.666;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.4986;1000g2015aug_all=0.424121;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236799520 rs7530565 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_018072,NM_001103;GeneDetail=dist\x3e31679\x3bdist\x3e50234;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7530565;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.666;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.4986;1000g2015aug_all=0.424321;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 236850256 rs12046163 A G 159.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=1.465;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12046163;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.5298;1000g2015aug_afr=0.0378;1000g2015aug_amr=0.3631;1000g2015aug_all=0.329473;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:61:188,0,61 1 236881403 rs2275399 C T 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.02;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275399;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4206;1000g2015aug_sas=0.3753;1000g2015aug_eur=0.6243;1000g2015aug_afr=0.0446;1000g2015aug_amr=0.4568;1000g2015aug_all=0.358427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 236882110 rs1341865 G A 1500.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=1.765;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000546208.5,ENST00000542672.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1341865;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9957;1000g2015aug_all=0.992612;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1529,137,0 1 236882303 rs1341864 T C 1054.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=2.621;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=exonic;Gene=NM_001103,NM_001278343;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1341864;cosmic70=.;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.999;1000g2015aug_afr=0.975;1000g2015aug_amr=0.9957;1000g2015aug_all=0.992612;esp6500siv2_all=0.9922;ExAC_ALL=0.9979;ExAC_AFR=0.9772;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1083,90,0 1 236883161 rs1773444 A G 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1773444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7171;1000g2015aug_amr=0.8429;1000g2015aug_all=0.893371;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 236883240 rs1768053 T C 293.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768053;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9728;1000g2015aug_amr=0.9942;1000g2015aug_all=0.992013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:322,30,0 1 236883421 rs1341863 C T 397.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=exonic;Gene=NM_001103,NM_001278343;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=ACTN2:NM_001103:exon4:c.C378T:p.N126N,ACTN2:NM_001278343:exon4:c.C378T:p.N126N;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1341863;cosmic70=.;CLNALLELEID=53107;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9831;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.996;1000g2015aug_afr=0.8139;1000g2015aug_amr=0.8559;1000g2015aug_all=0.920727;esp6500siv2_all=0.9377;ExAC_ALL=0.9624;ExAC_AFR=0.8184;ExAC_AMR=0.8618;ExAC_EAS=0.9812;ExAC_FIN=0.9868;ExAC_NFE=0.9953;ExAC_OTH=0.9758;ExAC_SAS=0.9703;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:426,39,0 1 236890781 rs1768056 A G 778.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=3.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1768056;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9821;1000g2015aug_sas=0.9693;1000g2015aug_eur=0.996;1000g2015aug_afr=0.9281;1000g2015aug_amr=0.8631;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:807,63,0 1 236897633 rs707203 A G 1073.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs707203;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1102,105,0 1 236899343 rs4659708 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000546208.5,ENST00000542672.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3938;1000g2015aug_sas=0.3998;1000g2015aug_eur=0.6173;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.4524;1000g2015aug_all=0.365615;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236900018 rs7542508 G A 633.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.948;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000546208.5,ENST00000542672.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7542508;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3909;1000g2015aug_sas=0.3957;1000g2015aug_eur=0.5984;1000g2015aug_afr=0.0817;1000g2015aug_amr=0.4452;1000g2015aug_all=0.359425;esp6500siv2_all=.;ExAC_ALL=0.4408;ExAC_AFR=0.1584;ExAC_AMR=0.4643;ExAC_EAS=0.4149;ExAC_FIN=0.5;ExAC_NFE=0.5431;ExAC_OTH=0.4667;ExAC_SAS=0.4162;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:662,57,0 1 236900598 rs7521191 C T 544.77 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e18\x3bName\x3e"421506:(AT)n(Simple_repeat)";avsnp150=rs7521191;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4861;1000g2015aug_sas=0.5215;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.3631;1000g2015aug_amr=0.6628;1000g2015aug_all=0.531949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:42:573,42,0 1 236902364 rs4659711 C T 221.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659711;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.4008;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.0408;1000g2015aug_amr=0.438;1000g2015aug_all=0.349042;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:250,18,0 1 236902560 rs7527525 C T 4202.77 PASS AC=2;AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7527525;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4038;1000g2015aug_sas=0.4172;1000g2015aug_eur=0.6133;1000g2015aug_afr=0.0893;1000g2015aug_amr=0.4539;1000g2015aug_all=0.372404;esp6500siv2_all=0.4798;ExAC_ALL=0.5153;ExAC_AFR=0.1516;ExAC_AMR=0.4402;ExAC_EAS=0.4087;ExAC_FIN=0.6424;ExAC_NFE=0.5993;ExAC_OTH=0.5432;ExAC_SAS=0.4456;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,131:131:99:4231,392,0 1 236902594 rs2288601 C G 5882.77 PASS AC=2;AF=1;AN=2;DP=186;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.333;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2288601;cosmic70=.;CLNALLELEID=53119;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.7837;1000g2015aug_sas=0.7352;1000g2015aug_eur=0.7753;1000g2015aug_afr=0.764;1000g2015aug_amr=0.7853;1000g2015aug_all=0.767572;esp6500siv2_all=0.7775;ExAC_ALL=0.7753;ExAC_AFR=0.7838;ExAC_AMR=0.7462;ExAC_EAS=0.7994;ExAC_FIN=0.8076;ExAC_NFE=0.7749;ExAC_OTH=0.7907;ExAC_SAS=0.7654;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,185:185:99:5911,554,0 1 236902865 rs2288602 A C 4918.77 PASS AC=2;AF=1;AN=2;DP=150;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=0.927;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2288602;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4802;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.1172;1000g2015aug_amr=0.4755;1000g2015aug_all=0.422724;esp6500siv2_all=0.5002;ExAC_ALL=0.5854;ExAC_AFR=0.1943;ExAC_AMR=0.4830;ExAC_EAS=0.5204;ExAC_FIN=0.6912;ExAC_NFE=0.6659;ExAC_OTH=0.6195;ExAC_SAS=0.5538;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,150:150:99:4947,450,0 1 236902955 rs7544174 T C 3227.77 PASS AC=2;AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=1.661;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7544174;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4702;1000g2015aug_sas=0.5031;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.118;1000g2015aug_amr=0.4769;1000g2015aug_all=0.420727;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,93:93:99:3256,279,0 1 236906664 rs12737976 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12737976;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0655;1000g2015aug_sas=0.0849;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0038;1000g2015aug_amr=0.0562;1000g2015aug_all=0.0533147;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236907594 rs34583860 G C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34583860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.093;1000g2015aug_eur=0.0855;1000g2015aug_afr=0.171;1000g2015aug_amr=0.0908;1000g2015aug_all=0.107228;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236907847 rs3738543 G A 1342.77 PASS AC=2;AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=2.073;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738543;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0704;1000g2015aug_sas=0.092;1000g2015aug_eur=0.0755;1000g2015aug_afr=0.0772;1000g2015aug_amr=0.0648;1000g2015aug_all=0.0766773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1371,114,0 1 236910863 rs10802557 T C 203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.142;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.634;SOR=0.922;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802557;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4306;1000g2015aug_sas=0.3967;1000g2015aug_eur=0.2823;1000g2015aug_afr=0.2587;1000g2015aug_amr=0.2795;1000g2015aug_all=0.327875;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,7:20:99:232,0,459 1 236911137 rs10925211 A G 444.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.156;DP=39;ExcessHet=3.0103;FS=3.272;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.314;SOR=1.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000546208.5,ENST00000542672.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1091;1000g2015aug_sas=0.1411;1000g2015aug_eur=0.0586;1000g2015aug_afr=0.0749;1000g2015aug_amr=0.1816;1000g2015aug_all=0.10623;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,16:39:99:473,0,605 1 236912219 rs3818884 G T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000546208.5,ENST00000542672.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e432\x3bName\x3e"421523:Tigger14a(DNA)";avsnp150=rs3818884;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8046;1000g2015aug_sas=0.8221;1000g2015aug_eur=0.8668;1000g2015aug_afr=0.6006;1000g2015aug_amr=0.8674;1000g2015aug_all=0.775359;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 236912286 rs2297956 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297956;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9563;1000g2015aug_sas=0.9448;1000g2015aug_eur=0.9105;1000g2015aug_afr=0.857;1000g2015aug_amr=0.9395;1000g2015aug_all=0.916334;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 236912597 rs2297955 A G 497.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.174;DP=50;ExcessHet=3.0103;FS=1.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.891;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2351;1000g2015aug_sas=0.1708;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.2133;1000g2015aug_all=0.189896;esp6500siv2_all=0.1488;ExAC_ALL=0.1415;ExAC_AFR=0.2339;ExAC_AMR=0.2101;ExAC_EAS=0.2360;ExAC_FIN=0.0877;ExAC_NFE=0.1042;ExAC_OTH=0.1538;ExAC_SAS=0.1577;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:33,17:50:99:526,0,980 1 236914576 rs3738544 C T 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.674;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000542672.5,ENST00000546208.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.7932;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.6484;1000g2015aug_all=0.585463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:30:113,0,30 1 236914610 rs3738545 G C 117.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.842;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000546208.5,ENST00000542672.5,ENST00000366578.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738545;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5714;1000g2015aug_sas=0.6575;1000g2015aug_eur=0.7942;1000g2015aug_afr=0.3517;1000g2015aug_amr=0.6556;1000g2015aug_all=0.586661;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,4:7:99:146,0,104 1 236924506 rs2282366 A G 3386.77 PASS AC=2;AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=1.832;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2282366;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7421;1000g2015aug_sas=0.7321;1000g2015aug_eur=0.8877;1000g2015aug_afr=0.7852;1000g2015aug_amr=0.8674;1000g2015aug_all=0.798123;esp6500siv2_all=0.8609;ExAC_ALL=0.8500;ExAC_AFR=0.8024;ExAC_AMR=0.8858;ExAC_EAS=0.7159;ExAC_FIN=0.8569;ExAC_NFE=0.8880;ExAC_OTH=0.8463;ExAC_SAS=0.7684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,100:100:99:3415,300,0 1 236924740 rs72762104 T C 266.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=intronic;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e31\x3bName\x3e"421536:(GT)n(Simple_repeat)";avsnp150=rs72762104;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3145;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.4384;1000g2015aug_afr=0.0741;1000g2015aug_amr=0.4265;1000g2015aug_all=0.302117;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:295,21,0 1 236926030 rs1051251 A G 725.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=5.994;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eACTN2;Func=UTR3;Gene=NM_001103,NM_001278343,NM_001278344;GeneDetail=NM_001103:c.*111A>G\x3bNM_001278343:c.*111A>G\x3bNM_001278344:c.*111A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366578.5,ENST00000542672.5,ENST00000546208.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1051251;cosmic70=.;CLNALLELEID=281366;CLNDN=Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.4427;1000g2015aug_eur=0.5586;1000g2015aug_afr=0.0287;1000g2015aug_amr=0.5231;1000g2015aug_all=0.34984;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:754,57,0 1 236958532 rs28372871 G T 962.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.528;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28372871;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.4105;1000g2015aug_afr=0.534;1000g2015aug_amr=0.4971;1000g2015aug_all=0.467252;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:991,81,0 1 236959252 rs12354209 G A 382.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=4.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12354209;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.7454;1000g2015aug_eur=0.5865;1000g2015aug_afr=0.8676;1000g2015aug_amr=0.6801;1000g2015aug_all=0.701278;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:411,30,0 1 236972327 rs12567062 G A 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12567062;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3879;1000g2015aug_sas=0.2945;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.0492;1000g2015aug_amr=0.4222;1000g2015aug_all=0.283746;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 236979597 rs3795708 A G 973.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=6.439;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795708;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3817;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.4366;1000g2015aug_all=0.316893;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:1002,72,0 1 236983532 rs61831809 A G 1816.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.917068\x3bName\x3echr2:62146298;Repeat=.;avsnp150=rs61831809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4366;1000g2015aug_all=0.323882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1845,123,0 1 236983534 rs61831810 C G 1816.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.917068\x3bName\x3echr2:62146298;Repeat=.;avsnp150=rs61831810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4366;1000g2015aug_all=0.323882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1845,123,0 1 236983594 rs61831811 A G 783.77 PASS AC=2;AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.917068\x3bName\x3echr2:62146298;Repeat=.;avsnp150=rs61831811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.3037;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4366;1000g2015aug_all=0.323882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,22:22:66:812,66,0 1 236983877 rs1815605 G A 354.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.917068\x3bName\x3echr2:62146298;Repeat=.;avsnp150=rs1815605;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.3027;1000g2015aug_eur=0.3847;1000g2015aug_afr=0.1566;1000g2015aug_amr=0.4366;1000g2015aug_all=0.322484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:383,30,0 1 236987790 rs4077829 G T 819.77 PASS AC=2;AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=3.352;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4077829;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3948;1000g2015aug_sas=0.2914;1000g2015aug_eur=0.3867;1000g2015aug_afr=0.1589;1000g2015aug_amr=0.4366;1000g2015aug_all=0.316494;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,23:23:69:848,69,0 1 236990141 rs2229274 G A 749.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.29;DP=88;ExcessHet=3.0103;FS=1.732;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.444;SOR=0.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=exonic;Gene=NM_000254,NM_001291939;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=MTR:NM_000254:exon11:c.G940A:p.D314N,MTR:NM_001291939:exon11:c.G940A:p.D314N;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229274;cosmic70=.;CLNALLELEID=281579;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.0229;1000g2015aug_afr=0.0068;1000g2015aug_amr=0.013;1000g2015aug_all=0.00838658;esp6500siv2_all=0.0201;ExAC_ALL=0.0191;ExAC_AFR=0.0087;ExAC_AMR=0.0148;ExAC_EAS=0.0001;ExAC_FIN=0.0120;ExAC_NFE=0.0281;ExAC_OTH=0.0198;ExAC_SAS=0.0050;SIFT_score=0.197;SIFT_pred=T;Polyphen2_HDIV_score=0.234;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.192;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=D;MutationAssessor_score=1.83;MutationAssessor_pred=L;FATHMM_score=2.76;FATHMM_pred=T;phyloP100way_vertebrate=4.103;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=11.247;gerp++gt2=3.12;CADD=3.153;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 0/1:51,37:88:99:778,0,1292 1 236994129 rs12097647 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12097647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.3006;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.1513;1000g2015aug_amr=0.438;1000g2015aug_all=0.323482;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 237001926 rs3820568 A G 2306.77 PASS AC=2;AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.643;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820568;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.4481;1000g2015aug_all=0.327676;esp6500siv2_all=0.3511;ExAC_ALL=0.3889;ExAC_AFR=0.2121;ExAC_AMR=0.4569;ExAC_EAS=0.4424;ExAC_FIN=0.4501;ExAC_NFE=0.4093;ExAC_OTH=0.4038;ExAC_SAS=0.3175;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,71:71:99:2335,213,0 1 237002032 rs55748381 A C 396.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=3.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e24\x3bName\x3e"421692:(ATATAC)n(Simple_repeat)";avsnp150=rs55748381;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3917;1000g2015aug_afr=0.1619;1000g2015aug_amr=0.4481;1000g2015aug_all=0.327676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:425,33,0 1 237013553 rs200399202 T A 1141.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e21\x3bName\x3e"421714:(TAATAT)n(Simple_repeat)";avsnp150=rs200399202;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4187;1000g2015aug_sas=0.2986;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.4452;1000g2015aug_all=0.323283;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1170,78,0 1 237016225 rs199957549 A G 384.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.366;DP=28;ExcessHet=3.0103;FS=4.028;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.613;SOR=1.751;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs199957549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=0.0029;1000g2015aug_all=0.000399361;esp6500siv2_all=0.0025;ExAC_ALL=0.0026;ExAC_AFR=0.0007;ExAC_AMR=0.0024;ExAC_EAS=0;ExAC_FIN=0.0017;ExAC_NFE=0.0037;ExAC_OTH=0.0011;ExAC_SAS=0.0013;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,13:28:99:413,0,474 1 237016623 rs2891796 G T 85.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2891796;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4474;1000g2015aug_sas=0.3875;1000g2015aug_eur=0.4115;1000g2015aug_afr=0.3835;1000g2015aug_amr=0.487;1000g2015aug_all=0.417133;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:113,9,0 1 237023333 rs10925254 T C 675.77 PASS AC=2;AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=5.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925254;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.6702;1000g2015aug_amr=0.6643;1000g2015aug_all=0.641773;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,17:17:51:704,51,0 1 237037853 rs2712831 C A 142.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2312\x3bName\x3e"421759:AluSx1(SINE)";avsnp150=rs2712831;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:170,12,0 1 237038008 rs10925256 T A 1348.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.582;DP=84;ExcessHet=3.0103;FS=2.476;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.398;SOR=1.219;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925256;cosmic70=.;CLNALLELEID=365012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3889;1000g2015aug_sas=0.3078;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.4017;1000g2015aug_amr=0.4409;1000g2015aug_all=0.381989;esp6500siv2_all=0.0007;ExAC_ALL=0.3603;ExAC_AFR=0.4130;ExAC_AMR=0.3776;ExAC_EAS=0.3546;ExAC_FIN=0.3985;ExAC_NFE=0.3502;ExAC_OTH=0.3614;ExAC_SAS=0.3479;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,61:79:99:1377,0,210 1 237048562 rs2275566 G A 587.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275566;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7788;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.9334;1000g2015aug_amr=0.6974;1000g2015aug_all=0.761781;esp6500siv2_all=0.7224;ExAC_ALL=0.6799;ExAC_AFR=0.9014;ExAC_AMR=0.6879;ExAC_EAS=0.8108;ExAC_FIN=0.6536;ExAC_NFE=0.6190;ExAC_OTH=0.6606;ExAC_SAS=0.7242;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:616,54,0 1 237049879 rs12065382 C T 1978.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.376;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e313\x3bName\x3e"421774:MIRb(SINE)";avsnp150=rs12065382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4236;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3887;1000g2015aug_afr=0.1558;1000g2015aug_amr=0.4452;1000g2015aug_all=0.324281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,66:66:99:2007,198,0 1 237052792 rs3768150 T A 263.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3768150;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5885;1000g2015aug_afr=0.826;1000g2015aug_amr=0.6916;1000g2015aug_all=0.733427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:292,21,0 1 237054569 rs2229276 A G 1300.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=1.203;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=exonic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTR:NM_001291939:exon28:c.A2991G:p.A997A,MTR:NM_001291940:exon28:c.A1923G:p.A641A,MTR:NM_000254:exon29:c.A3144G:p.A1048A;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2229276;cosmic70=.;CLNALLELEID=141993;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.3098;1000g2015aug_eur=0.3857;1000g2015aug_afr=0.149;1000g2015aug_amr=0.4323;1000g2015aug_all=0.323283;esp6500siv2_all=0.3405;ExAC_ALL=0.3833;ExAC_AFR=0.1942;ExAC_AMR=0.4496;ExAC_EAS=0.4469;ExAC_FIN=0.4486;ExAC_NFE=0.4010;ExAC_OTH=0.3921;ExAC_SAS=0.3247;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1329,138,0 1 237057608 rs2297965 G A 3176.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=2.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2297965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5218;1000g2015aug_sas=0.6176;1000g2015aug_eur=0.5567;1000g2015aug_afr=0.4365;1000g2015aug_amr=0.6124;1000g2015aug_all=0.53754;esp6500siv2_all=0.5606;ExAC_ALL=0.5898;ExAC_AFR=0.4597;ExAC_AMR=0.6374;ExAC_EAS=0.5470;ExAC_FIN=0.6373;ExAC_NFE=0.5918;ExAC_OTH=0.6009;ExAC_SAS=0.6324;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:3205,262,0 1 237058744 rs12070777 C A 3283.77 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.953;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.19;ReadPosRankSum=1.172;SOR=0.284;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=exonic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTR:NM_001291939:exon30:c.C3339A:p.R1113R,MTR:NM_001291940:exon30:c.C2271A:p.R757R,MTR:NM_000254:exon31:c.C3492A:p.R1164R;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12070777;cosmic70=.;CLNALLELEID=141986;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.2975;1000g2015aug_eur=0.3857;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.438;1000g2015aug_all=0.321486;esp6500siv2_all=0.3417;ExAC_ALL=0.4330;ExAC_AFR=0.2409;ExAC_AMR=0.5028;ExAC_EAS=0.4739;ExAC_FIN=0.5355;ExAC_NFE=0.4576;ExAC_OTH=0.4446;ExAC_SAS=0.3477;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,101:102:99:3312,296,0 1 237058828 rs1131449 C T 2741.77 PASS AC=2;AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=0.965;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=exonic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=MTR:NM_001291939:exon30:c.C3423T:p.L1141L,MTR:NM_001291940:exon30:c.C2355T:p.L785L,MTR:NM_000254:exon31:c.C3576T:p.L1192L;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1131449;cosmic70=.;CLNALLELEID=141987;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.6155;1000g2015aug_eur=0.5358;1000g2015aug_afr=0.4342;1000g2015aug_amr=0.5922;1000g2015aug_all=0.529153;esp6500siv2_all=0.5461;ExAC_ALL=0.6193;ExAC_AFR=0.5137;ExAC_AMR=0.6691;ExAC_EAS=0.6073;ExAC_FIN=0.6914;ExAC_NFE=0.6167;ExAC_OTH=0.6318;ExAC_SAS=0.6409;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,89:89:99:2770,267,0 1 237060433 rs3820571 G T 2560.77 PASS AC=2;AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.43;SOR=1.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820571;cosmic70=.;CLNALLELEID=141988;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7778;1000g2015aug_sas=0.7331;1000g2015aug_eur=0.5835;1000g2015aug_afr=0.9115;1000g2015aug_amr=0.6844;1000g2015aug_all=0.752396;esp6500siv2_all=0.7134;ExAC_ALL=0.6756;ExAC_AFR=0.8830;ExAC_AMR=0.6886;ExAC_EAS=0.8104;ExAC_FIN=0.6538;ExAC_NFE=0.6141;ExAC_OTH=0.6553;ExAC_SAS=0.7236;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,87:87:99:2589,261,0 1 237060645 . T A 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.674;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.383;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=intronic;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:37:78,0,37 1 237061056 rs2853522 A C 627.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=5.67;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=UTR3;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=NM_000254:c.*112A>C\x3bNM_001291939:c.*112A>C\x3bNM_001291940:c.*112A>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2853522;cosmic70=.;CLNALLELEID=279822;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism;CLNDISDB=MedGen:CN043592;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.5258;1000g2015aug_sas=0.6217;1000g2015aug_eur=0.5596;1000g2015aug_afr=0.438;1000g2015aug_amr=0.6124;1000g2015aug_all=0.540136;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:656,48,0 1 237063335 rs1050996 G C 435.77 PASS AC=2;AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=UTR3;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=NM_000254:c.*2391G>C\x3bNM_001291939:c.*2391G>C\x3bNM_001291940:c.*2391G>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000535889.5,ENST00000366577.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2202\x3bName\x3e"421790:L1ME3F(LINE)";avsnp150=rs1050996;cosmic70=.;CLNALLELEID=281701;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism;CLNDISDB=MedGen:CN043592;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7847;1000g2015aug_sas=0.7342;1000g2015aug_eur=0.5875;1000g2015aug_afr=0.829;1000g2015aug_amr=0.683;1000g2015aug_all=0.732827;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,16:16:48:464,48,0 1 237063504 rs9779 A G 370.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMTR;Func=UTR3;Gene=NM_000254,NM_001291939,NM_001291940;GeneDetail=NM_000254:c.*2560A>G\x3bNM_001291939:c.*2560A>G\x3bNM_001291940:c.*2560A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366577.9,ENST00000535889.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2202\x3bName\x3e"421790:L1ME3F(LINE)";avsnp150=rs9779;cosmic70=.;CLNALLELEID=279877;CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism;CLNDISDB=MedGen:CN043592;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.4256;1000g2015aug_sas=0.2996;1000g2015aug_eur=0.3807;1000g2015aug_afr=0.1543;1000g2015aug_amr=0.4366;1000g2015aug_all=0.321885;esp6500siv2_all=.;ExAC_ALL=0.3793;ExAC_AFR=0.2937;ExAC_AMR=0.3793;ExAC_EAS=0.5;ExAC_FIN=.;ExAC_NFE=0.4073;ExAC_OTH=0.3286;ExAC_SAS=0.3684;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:399,36,0 1 237124179 rs1417304 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291939,NM_001276687;GeneDetail=dist\x3e56898\x3bdist\x3e43224;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1673\x3bName\x3e"421938:AluJo(SINE)";avsnp150=rs1417304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5089;1000g2015aug_sas=0.5358;1000g2015aug_eur=0.5795;1000g2015aug_afr=0.7511;1000g2015aug_amr=0.696;1000g2015aug_all=0.618211;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 237162092 rs1252155 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291939,NM_001276687;GeneDetail=dist\x3e94811\x3bdist\x3e5311;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1252155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9851;1000g2015aug_sas=0.908;1000g2015aug_eur=0.9453;1000g2015aug_afr=0.8396;1000g2015aug_amr=0.9251;1000g2015aug_all=0.915335;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 237162163 rs10802578 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001291939,NM_001276687;GeneDetail=dist\x3e94882\x3bdist\x3e5240;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802578;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6607;1000g2015aug_sas=0.5174;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.3585;1000g2015aug_amr=0.549;1000g2015aug_all=0.535343;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 237347419 rs57938337 G A 31.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.87;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs57938337;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.125;1000g2015aug_sas=0.1339;1000g2015aug_eur=0.0835;1000g2015aug_afr=0.2436;1000g2015aug_amr=0.0965;1000g2015aug_all=0.145767;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:59,6,0 1 237433524 rs2275288 C T 201.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.471;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.738;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275288;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5238;1000g2015aug_sas=0.2178;1000g2015aug_eur=0.1362;1000g2015aug_afr=0.1415;1000g2015aug_amr=0.2075;1000g2015aug_all=0.241414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:230,0,131 1 237433625 rs2275287 C T 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.513;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.678;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275287;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6954;1000g2015aug_sas=0.3323;1000g2015aug_eur=0.3459;1000g2015aug_afr=0.3578;1000g2015aug_amr=0.3084;1000g2015aug_all=0.411542;esp6500siv2_all=.;ExAC_ALL=0.3757;ExAC_AFR=0.4034;ExAC_AMR=0.2842;ExAC_EAS=0.6767;ExAC_FIN=0.5284;ExAC_NFE=0.3682;ExAC_OTH=0.4438;ExAC_SAS=0.3489;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,12:23:99:385,0,254 1 237461960 rs2058934 A C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2058934;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3849;1000g2015aug_sas=0.4724;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.528;1000g2015aug_amr=0.3199;1000g2015aug_all=0.427915;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 237473370 rs12730449 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8930\x3bName\x3e"422611:LTR12C(LTR)";avsnp150=rs12730449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4177;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.6437;1000g2015aug_amr=0.3429;1000g2015aug_all=0.492013;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 237473376 rs12749212 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8930\x3bName\x3e"422611:LTR12C(LTR)";avsnp150=rs12749212;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2163;1000g2015aug_sas=0.5317;1000g2015aug_eur=0.3708;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.2954;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 237540615 rs10925391 A C 1130.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.896;DP=99;ExcessHet=3.0103;FS=3.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.72;SOR=1.096;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10925391;cosmic70=.;CLNALLELEID=52959;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.4315;1000g2015aug_sas=0.1851;1000g2015aug_eur=0.2366;1000g2015aug_afr=0.5484;1000g2015aug_amr=0.3429;1000g2015aug_all=0.362819;esp6500siv2_all=0.3043;ExAC_ALL=0.3021;ExAC_AFR=0.5118;ExAC_AMR=0.3799;ExAC_EAS=0.4470;ExAC_FIN=0.3758;ExAC_NFE=0.2482;ExAC_OTH=0.3149;ExAC_SAS=0.2278;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:56,43:99:99:1159,0,1414 1 237551376 rs10754602 T A 1115.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.646;DP=82;ExcessHet=3.0103;FS=1.848;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.72;SOR=0.484;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754602;cosmic70=.;CLNALLELEID=52986;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.4346;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.4697;1000g2015aug_amr=0.7421;1000g2015aug_all=0.55651;esp6500siv2_all=0.5273;ExAC_ALL=0.5751;ExAC_AFR=0.4653;ExAC_AMR=0.7855;ExAC_EAS=0.6446;ExAC_FIN=0.5519;ExAC_NFE=0.5716;ExAC_OTH=0.5688;ExAC_SAS=0.4781;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:39,43:82:99:1144,0,1070 1 237580606 rs6673182 G T 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.54;ReadPosRankSum=1.465;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.82;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.8357;1000g2015aug_all=0.874201;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:62:249,0,62 1 237580612 rs6673187 G C 220.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.54;ReadPosRankSum=1.465;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673187;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.817;1000g2015aug_eur=0.7555;1000g2015aug_afr=0.9304;1000g2015aug_amr=0.8357;1000g2015aug_all=0.873602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,6:7:62:249,0,62 1 237634229 rs2805440 A G 1210.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.204;DP=72;ExcessHet=3.0103;FS=5.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.563;SOR=1.739;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2622\x3bName\x3e"422912:LTR9A1(LTR)";avsnp150=rs2805440;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.1779;1000g2015aug_eur=0.2078;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.1297;1000g2015aug_all=0.142971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:31,41:72:99:1239,0,913 1 237654831 rs2127155 G T 147.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.349;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2127155;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5506;1000g2015aug_sas=0.6125;1000g2015aug_eur=0.5467;1000g2015aug_afr=0.9652;1000g2015aug_amr=0.5231;1000g2015aug_all=0.667532;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,218 1 237656124 rs12022241 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-0.524;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e63\x3bName\x3e"422952:(AAGG)n(Simple_repeat)";avsnp150=rs12022241;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4643;1000g2015aug_sas=0.6166;1000g2015aug_eur=0.4831;1000g2015aug_afr=0.7579;1000g2015aug_amr=0.4164;1000g2015aug_all=0.56869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 237670140 rs2618702 A G 543.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.262;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-0.269;SOR=0.722;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2618702;cosmic70=.;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7272;1000g2015aug_sas=0.5389;1000g2015aug_eur=0.6779;1000g2015aug_afr=0.8563;1000g2015aug_amr=0.6182;1000g2015aug_all=0.699481;esp6500siv2_all=0.7105;ExAC_ALL=0.6804;ExAC_AFR=0.8394;ExAC_AMR=0.6534;ExAC_EAS=0.7145;ExAC_FIN=0.7363;ExAC_NFE=0.6691;ExAC_OTH=0.6991;ExAC_SAS=0.6048;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,20:31:99:572,0,264 1 237690680 rs2805443 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e717\x3bName\x3e"423020:MLT2B4(LTR)";avsnp150=rs2805443;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.621;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.5169;1000g2015aug_afr=0.3873;1000g2015aug_amr=0.4986;1000g2015aug_all=0.461462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 237693479 rs2779364 C T 59.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2694\x3bName\x3e"423028:AluY(SINE)";avsnp150=rs2779364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.7073;1000g2015aug_amr=0.8617;1000g2015aug_all=0.779752;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:87,6,0 1 237693921 rs2779365 A G 472.77 PASS AC=2;AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.3;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2779365;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8988;1000g2015aug_sas=0.6779;1000g2015aug_eur=0.7982;1000g2015aug_afr=0.6891;1000g2015aug_amr=0.866;1000g2015aug_all=0.775559;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,12:12:36:501,36,0 1 237711457 rs2618662 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2618662;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.951;1000g2015aug_all=0.830272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 237711644 rs2618661 T C 650.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=2.419;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2618661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.951;1000g2015aug_all=0.830272;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:679,57,0 1 237711797 rs2253273 A G 1697.77 PASS AC=2;AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=0.813;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon26:c.A2973G:p.S991S;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253273;cosmic70=.;CLNALLELEID=52932;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.872;1000g2015aug_sas=0.9652;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.951;1000g2015aug_all=0.830272;esp6500siv2_all=0.8511;ExAC_ALL=0.9262;ExAC_AFR=0.5994;ExAC_AMR=0.9575;ExAC_EAS=0.8849;ExAC_FIN=0.9710;ExAC_NFE=0.9594;ExAC_OTH=0.9499;ExAC_SAS=0.9663;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,51:51:99:1726,153,0 1 237729774 rs2248295 G A 772.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.126;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.541;SOR=0.732;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2248295;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8661;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.9324;1000g2015aug_afr=0.469;1000g2015aug_amr=0.9049;1000g2015aug_all=0.795527;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,28:55:99:801,0,839 1 237730124 rs2805390 A G 5506.77 PASS AC=2;AF=1;AN=2;DP=147;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.97;SOR=3.337;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2805390;cosmic70=.;CLNALLELEID=249820;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9714;1000g2015aug_eur=0.9712;1000g2015aug_afr=0.702;1000g2015aug_amr=0.9697;1000g2015aug_all=0.905551;esp6500siv2_all=0.9055;ExAC_ALL=0.9575;ExAC_AFR=0.7437;ExAC_AMR=0.9768;ExAC_EAS=0.9994;ExAC_FIN=0.9782;ExAC_NFE=0.9738;ExAC_OTH=0.9655;ExAC_SAS=0.9748;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,147:147:99:5535,442,0 1 237730169 rs2779401 C T 2909.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2779401;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.999;1000g2015aug_sas=0.9796;1000g2015aug_eur=0.9911;1000g2015aug_afr=0.7284;1000g2015aug_amr=0.9784;1000g2015aug_all=0.919329;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2938,220,0 1 237730217 rs1824860 C T 717.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.807;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.468;SOR=0.317;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1824860;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1329;1000g2015aug_sas=0.0256;1000g2015aug_eur=0.0368;1000g2015aug_afr=0.0696;1000g2015aug_amr=0.049;1000g2015aug_all=0.0642971;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,22:39:99:746,0,576 1 237732332 rs2618717 C T 120.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.623;SOR=1.329;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2618717;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3026;1000g2015aug_sas=0.6984;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.7161;1000g2015aug_all=0.501198;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,4:6:65:149,0,65 1 237732395 rs2805396 G A 418.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.29;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=-0.378;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2805396;cosmic70=.;CLNALLELEID=249821;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.2619;1000g2015aug_sas=0.6963;1000g2015aug_eur=0.6978;1000g2015aug_afr=0.2443;1000g2015aug_amr=0.7176;1000g2015aug_all=0.492812;esp6500siv2_all=0.5935;ExAC_ALL=0.6443;ExAC_AFR=0.3129;ExAC_AMR=0.7420;ExAC_EAS=0.2708;ExAC_FIN=0.6575;ExAC_NFE=0.7159;ExAC_OTH=0.6563;ExAC_SAS=0.6771;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,14:23:99:447,0,273 1 237753364 rs2805409 A C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.068;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.328;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2805409;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4901;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.5375;1000g2015aug_all=0.336861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,122 1 237754340 rs1332777 A G 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.644;DP=18;ExcessHet=3.0103;FS=7.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=0.311;SOR=3.145;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1332777;cosmic70=.;CLNALLELEID=249823;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.5403;1000g2015aug_all=0.33746;esp6500siv2_all=0.3863;ExAC_ALL=0.4467;ExAC_AFR=0.1947;ExAC_AMR=0.6295;ExAC_EAS=0.3210;ExAC_FIN=0.5085;ExAC_NFE=0.4827;ExAC_OTH=0.4845;ExAC_SAS=0.3496;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,10:18:99:385,0,288 1 237755188 rs2618713 C T 561.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.179;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.451;SOR=0.906;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2618713;cosmic70=.;CLNALLELEID=249824;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.317;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.5403;1000g2015aug_all=0.335863;esp6500siv2_all=0.3891;ExAC_ALL=0.4598;ExAC_AFR=0.2132;ExAC_AMR=0.6418;ExAC_EAS=0.3536;ExAC_FIN=0.5288;ExAC_NFE=0.5057;ExAC_OTH=0.4712;ExAC_SAS=0.3597;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:590,0,498 1 237755203 rs2779430 T C 453.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.625;DP=33;ExcessHet=3.0103;FS=3.837;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.543;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2779430;cosmic70=.;CLNALLELEID=249825;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.1437;1000g2015aug_amr=0.5403;1000g2015aug_all=0.33746;esp6500siv2_all=0.3819;ExAC_ALL=0.4317;ExAC_AFR=0.2019;ExAC_AMR=0.6043;ExAC_EAS=0.3243;ExAC_FIN=0.5131;ExAC_NFE=0.4833;ExAC_OTH=0.4542;ExAC_SAS=0.3562;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,18:33:99:482,0,459 1 237755348 rs2779431 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2779431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8419;1000g2015aug_amr=0.9841;1000g2015aug_all=0.955471;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 237757027 rs1478915 G A 419.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.686;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=-0.181;SOR=1.23;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1478915;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3105;1000g2015aug_sas=0.3252;1000g2015aug_eur=0.4911;1000g2015aug_afr=0.1452;1000g2015aug_amr=0.5403;1000g2015aug_all=0.337859;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,13:21:99:448,0,271 1 237765470 rs791541 A T 356.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.525;DP=30;ExcessHet=3.0103;FS=3.698;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.335;SOR=1.483;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs791541;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.2955;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.0507;1000g2015aug_amr=0.5245;1000g2015aug_all=0.293131;esp6500siv2_all=0.3604;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,13:30:99:385,0,450 1 237778084 rs3766871 G A 808.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.205;DP=62;ExcessHet=3.0103;FS=0.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.874;SOR=0.626;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RYR2:NM_001035:exon37:c.G5656A:p.G1886S;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3766871;cosmic70=.;CLNALLELEID=45408;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.0665;1000g2015aug_eur=0.0268;1000g2015aug_afr=0.1551;1000g2015aug_amr=0.0303;1000g2015aug_all=0.076278;esp6500siv2_all=0.0628;ExAC_ALL=0.0438;ExAC_AFR=0.1417;ExAC_AMR=0.0175;ExAC_EAS=0.0791;ExAC_FIN=0.0226;ExAC_NFE=0.0307;ExAC_OTH=0.0353;ExAC_SAS=0.0491;SIFT_score=0.335;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.202;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=-0.64;FATHMM_pred=T;phyloP100way_vertebrate=3.448;phyloP20way_mammalian=1.048;SiPhy_29way_logOdds=18.064;gerp++gt2=4.8;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:35,27:62:99:837,0,1059 1 237788826 rs6659362 C G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6659362;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1349;1000g2015aug_sas=0.135;1000g2015aug_eur=0.1203;1000g2015aug_afr=0.5726;1000g2015aug_amr=0.1484;1000g2015aug_all=0.249401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 237788844 rs571092 T C 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs571092;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6736;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.835;1000g2015aug_afr=0.6384;1000g2015aug_amr=0.8415;1000g2015aug_all=0.741214;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 237788862 rs571026 T C 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.75;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs571026;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6726;1000g2015aug_sas=0.7822;1000g2015aug_eur=0.835;1000g2015aug_afr=0.6354;1000g2015aug_amr=0.8401;1000g2015aug_all=0.740016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 237789317 rs512336 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs512336;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8026;1000g2015aug_sas=0.8374;1000g2015aug_eur=0.8936;1000g2015aug_afr=0.7678;1000g2015aug_amr=0.8934;1000g2015aug_all=0.83107;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 237794603 rs1759123 A G 64.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.349;DP=11;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=-0.778;SOR=0.027;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1759123;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5784;1000g2015aug_sas=0.7618;1000g2015aug_eur=0.7376;1000g2015aug_afr=0.3729;1000g2015aug_amr=0.745;1000g2015aug_all=0.615016;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,3:11:93:93,0,269 1 237801770 rs707189 T C 6600.77 PASS AC=2;AF=1;AN=2;DP=197;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=1.811;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon45:c.T6906C:p.L2302L;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs707189;cosmic70=.;CLNALLELEID=52988;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8359;1000g2015aug_amr=0.987;1000g2015aug_all=0.954872;esp6500siv2_all=0.9592;ExAC_ALL=0.9884;ExAC_AFR=0.8667;ExAC_AMR=0.9948;ExAC_EAS=1;ExAC_FIN=0.9997;ExAC_NFE=0.9997;ExAC_OTH=0.9911;ExAC_SAS=0.9998;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,197:197:99:6629,591,0 1 237802559 rs530109 T C 746.77 PASS AC=2;AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.2;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs530109;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9986;1000g2015aug_all=0.998203;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,21:21:63:775,63,0 1 237811889 rs143906555 C T 2489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.162;DP=185;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.412;SOR=0.961;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon49:c.C7488T:p.L2496L;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs143906555;cosmic70=.;CLNALLELEID=45410;CLNDN=Cardiac_arrhythmia|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0003811,OMIM:115000|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.001;1000g2015aug_eur=0.004;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00139776;esp6500siv2_all=0.0040;ExAC_ALL=0.0049;ExAC_AFR=0.0013;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0191;ExAC_NFE=0.0061;ExAC_OTH=0.0058;ExAC_SAS=0.0017;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:91,94:185:99:2518,0,2406 1 237823959 rs475234 C T 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs475234;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9849;1000g2015aug_amr=0.9971;1000g2015aug_all=0.995607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 237824332 rs471647 G A 915.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs471647;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9818;1000g2015aug_amr=0.9971;1000g2015aug_all=0.994808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:944,75,0 1 237831103 rs477245 C A 515.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs477245;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.997;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.987;1000g2015aug_all=0.952077;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:544,45,0 1 237841390 rs34967813 A G 1320.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=RYR2:NM_001035:exon61:c.A8873G:p.Q2958R;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs34967813;cosmic70=.;CLNALLELEID=45411;CLNDN=Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0491;1000g2015aug_eur=0.2942;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.1988;1000g2015aug_all=0.0992412;esp6500siv2_all=0.2249;ExAC_ALL=0.2533;ExAC_AFR=0.0615;ExAC_AMR=0.2369;ExAC_EAS=0.0013;ExAC_FIN=0.2772;ExAC_NFE=0.3459;ExAC_OTH=0.2570;ExAC_SAS=0.0920;SIFT_score=0.473;SIFT_pred=T;Polyphen2_HDIV_score=0.287;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.032;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=0.725;MutationAssessor_pred=N;FATHMM_score=-0.29;FATHMM_pred=T;phyloP100way_vertebrate=7.206;phyloP20way_mammalian=1.140;SiPhy_29way_logOdds=10.287;gerp++gt2=5.67;CADD=2.365;CADD_Phred=18.59;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1349,138,0 1 237862164 rs1521745 G C 563.77 PASS AC=2;AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=4.047;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1521745;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4067;1000g2015aug_sas=0.6759;1000g2015aug_eur=0.7117;1000g2015aug_afr=0.2027;1000g2015aug_amr=0.585;1000g2015aug_all=0.491414;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,15:15:45:592,45,0 1 237862436 rs1521744 T C 430.77 PASS AC=2;AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=4.977;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1521744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.497;1000g2015aug_sas=0.7209;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.8699;1000g2015aug_amr=0.7637;1000g2015aug_all=0.727436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,11:11:33:459,33,0 1 237862458 rs3736539 A G 218.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3736539;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4087;1000g2015aug_sas=0.68;1000g2015aug_eur=0.7068;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.5836;1000g2015aug_all=0.466454;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:247,18,0 1 237863439 rs12754190 G A 769.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=2.124;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12754190;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.6646;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.1089;1000g2015aug_amr=0.5793;1000g2015aug_all=0.461462;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:798,72,0 1 237863718 rs2797436 T G 2087.77 PASS AC=2;AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=2.387;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2797436;cosmic70=.;CLNALLELEID=53005;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9914;1000g2015aug_all=0.969249;esp6500siv2_all=0.9718;ExAC_ALL=0.9917;ExAC_AFR=0.9080;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9954;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,56:56:99:2116,168,0 1 237865203 rs939699 C T 1030.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs939699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.888;1000g2015aug_amr=0.9914;1000g2015aug_all=0.969249;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1059,90,0 1 237881770 rs2797441 C T 332.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.6;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2797441;cosmic70=.;CLNALLELEID=52868;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.9899;1000g2015aug_all=0.960463;esp6500siv2_all=0.9616;ExAC_ALL=0.9886;ExAC_AFR=0.8706;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9933;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:361,39,0 1 237886739 rs2797444 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2797444;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.6286;1000g2015aug_amr=0.9697;1000g2015aug_all=0.897764;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 237890437 rs2685301 C T 3958.77 PASS AC=2;AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=0.812;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=exonic;Gene=NM_001035;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=RYR2:NM_001035:exon76:c.C10776T:p.S3592S;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2685301;cosmic70=.;CLNALLELEID=52871;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8548;1000g2015aug_amr=0.9899;1000g2015aug_all=0.960264;esp6500siv2_all=0.9608;ExAC_ALL=0.9885;ExAC_AFR=0.8705;ExAC_AMR=0.9949;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9933;ExAC_SAS=0.9992;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,123:123:99:3987,369,0 1 237893674 rs2797445 C T 1527.77 PASS AC=2;AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2797445;cosmic70=.;CLNALLELEID=195829;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.947;1000g2015aug_amr=0.9942;1000g2015aug_all=0.985224;esp6500siv2_all=0.9854;ExAC_ALL=0.9954;ExAC_AFR=0.9473;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9966;ExAC_SAS=0.9999;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,49:49:99:1556,146,0 1 237896736 rs1915781 G A 54.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1915781;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.6943;1000g2015aug_eur=0.7306;1000g2015aug_afr=0.8797;1000g2015aug_amr=0.6816;1000g2015aug_all=0.697085;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:82,6,0 1 237923053 rs2253831 C T 864.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.798;DP=81;ExcessHet=3.0103;FS=1.951;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.221;SOR=0.449;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2253831;cosmic70=.;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.8204;1000g2015aug_sas=0.6871;1000g2015aug_eur=0.6988;1000g2015aug_afr=0.8275;1000g2015aug_amr=0.7464;1000g2015aug_all=0.761581;esp6500siv2_all=0.7260;ExAC_ALL=0.7109;ExAC_AFR=0.7998;ExAC_AMR=0.7357;ExAC_EAS=0.7763;ExAC_FIN=0.7446;ExAC_NFE=0.6849;ExAC_OTH=0.7222;ExAC_SAS=0.6978;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:43,38:81:99:893,0,1213 1 237946964 rs790889 T C 443.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.203;DP=34;ExcessHet=3.0103;FS=3.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.275;SOR=0.153;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790889;cosmic70=.;CLNALLELEID=52885;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.6964;1000g2015aug_sas=0.4121;1000g2015aug_eur=0.3201;1000g2015aug_afr=0.2806;1000g2015aug_amr=0.402;1000g2015aug_all=0.414736;esp6500siv2_all=0.3267;ExAC_ALL=0.4859;ExAC_AFR=0.3923;ExAC_AMR=0.5191;ExAC_EAS=0.7067;ExAC_FIN=0.4275;ExAC_NFE=0.4541;ExAC_OTH=0.5017;ExAC_SAS=0.5312;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:472,0,574 1 237951451 rs2256242 A G 376.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.21;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.673;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2256242;cosmic70=.;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.7024;1000g2015aug_sas=0.5706;1000g2015aug_eur=0.5099;1000g2015aug_afr=0.7935;1000g2015aug_amr=0.5187;1000g2015aug_all=0.636581;esp6500siv2_all=0.6176;ExAC_ALL=0.5750;ExAC_AFR=0.7756;ExAC_AMR=0.4468;ExAC_EAS=0.6762;ExAC_FIN=0.5189;ExAC_NFE=0.5490;ExAC_OTH=0.6012;ExAC_SAS=0.6129;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,16:31:99:405,0,431 1 237955678 rs144369382 T C 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.62;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e78\x3bName\x3e"423424:(TG)n(Simple_repeat)";avsnp150=rs144369382;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.264;1000g2015aug_amr=0.6254;1000g2015aug_all=0.528155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 237955680 rs146659498 T C 421.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e78\x3bName\x3e"423424:(TG)n(Simple_repeat)";avsnp150=rs146659498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6746;1000g2015aug_sas=0.6227;1000g2015aug_eur=0.5696;1000g2015aug_afr=0.264;1000g2015aug_amr=0.6254;1000g2015aug_all=0.528155;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:450,30,0 1 237957146 rs790902 G A 573.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790902;cosmic70=.;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.9454;1000g2015aug_sas=0.8538;1000g2015aug_eur=0.6312;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.7968;1000g2015aug_all=0.734026;esp6500siv2_all=0.6242;ExAC_ALL=0.7134;ExAC_AFR=0.5567;ExAC_AMR=0.8266;ExAC_EAS=0.9371;ExAC_FIN=0.6880;ExAC_NFE=0.6639;ExAC_OTH=0.7035;ExAC_SAS=0.8241;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:53:602,53,0 1 237957161 rs790901 A G 735.77 PASS AC=2;AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790901;cosmic70=.;CLNALLELEID=52900;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.8926;1000g2015aug_eur=0.6501;1000g2015aug_afr=0.5688;1000g2015aug_amr=0.804;1000g2015aug_all=0.757588;esp6500siv2_all=0.6514;ExAC_ALL=0.7399;ExAC_AFR=0.5959;ExAC_AMR=0.8436;ExAC_EAS=0.9441;ExAC_FIN=0.7158;ExAC_NFE=0.6873;ExAC_OTH=0.7238;ExAC_SAS=0.8658;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,24:24:72:764,72,0 1 237957309 rs790900 A C 1109.77 PASS AC=2;AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs790900;cosmic70=.;CLNALLELEID=52901;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;gwasCatalog=.;1000g2015aug_eas=0.9494;1000g2015aug_sas=0.862;1000g2015aug_eur=0.6431;1000g2015aug_afr=0.5772;1000g2015aug_amr=0.7925;1000g2015aug_all=0.750799;esp6500siv2_all=0.6478;ExAC_ALL=0.7273;ExAC_AFR=0.6015;ExAC_AMR=0.8362;ExAC_EAS=0.9444;ExAC_FIN=0.7098;ExAC_NFE=0.6717;ExAC_OTH=0.7081;ExAC_SAS=0.8434;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,38:38:99:1138,114,0 1 237964934 rs7543732 A G 233.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=-1.687;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000360064.7,ENST00000366574.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7543732;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3651;1000g2015aug_sas=0.5307;1000g2015aug_eur=0.6034;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.5893;1000g2015aug_all=0.53774;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,7:10:95:262,0,95 1 237965035 rs2790346 C A 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.792;DP=36;ExcessHet=3.0103;FS=1.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=-0.128;SOR=1.106;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2790346;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.3976;1000g2015aug_afr=0.4039;1000g2015aug_amr=0.4107;1000g2015aug_all=0.463059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,9:36:99:294,0,1232 1 237965043 rs2790347 A G 265.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.601;DP=37;ExcessHet=3.0103;FS=1.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=-0.089;SOR=1.026;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2790347;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.4693;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.4107;1000g2015aug_all=0.46226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,9:37:99:294,0,1232 1 237965094 rs2794820 G T 296.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.299;DP=52;ExcessHet=3.0103;FS=1.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=0.124;SOR=0.436;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794820;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4024;1000g2015aug_amr=0.4092;1000g2015aug_all=0.46226;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,14:52:99:325,0,1124 1 237965131 rs9428384 G A 311.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.484;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.47;ReadPosRankSum=0.272;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRYR2;Func=intronic;Gene=NM_001035;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366574.6,ENST00000360064.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428384;cosmic70=.;CLNALLELEID=249838;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;gwasCatalog=.;1000g2015aug_eas=0.6349;1000g2015aug_sas=0.4703;1000g2015aug_eur=0.3956;1000g2015aug_afr=0.1944;1000g2015aug_amr=0.3948;1000g2015aug_all=0.405152;esp6500siv2_all=0.3487;ExAC_ALL=0.4178;ExAC_AFR=0.2244;ExAC_AMR=0.3631;ExAC_EAS=0.6195;ExAC_FIN=0.4122;ExAC_NFE=0.4133;ExAC_OTH=0.4272;ExAC_SAS=0.4846;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,15:57:99:340,0,1793 1 238045590 rs2794813 C T 630.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331,ZP4;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611898.4,ENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794813;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6458;1000g2015aug_sas=0.5603;1000g2015aug_eur=0.3499;1000g2015aug_afr=0.6906;1000g2015aug_amr=0.4063;1000g2015aug_all=0.548323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:659,54,0 1 238045995 rs2275694 T C 2029.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.936;DP=138;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.769;SOR=0.978;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331,ZP4;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366570.4,ENST00000611898.4,ENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275694;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4276;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.2107;1000g2015aug_afr=0.3707;1000g2015aug_amr=0.1916;1000g2015aug_all=0.300919;esp6500siv2_all=0.2603;ExAC_ALL=0.2335;ExAC_AFR=0.3454;ExAC_AMR=0.1541;ExAC_EAS=0.4037;ExAC_FIN=0.1805;ExAC_NFE=0.2117;ExAC_OTH=0.2054;ExAC_SAS=0.2402;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:67,70:137:99:2058,0,1841 1 238046253 rs2794814 T C 978.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.66;SOR=6.518;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331,ZP4;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366570.4,ENST00000611898.4,ENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2794814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6716;1000g2015aug_sas=0.7239;1000g2015aug_eur=0.499;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.572;1000g2015aug_all=0.699281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:75:1007,75,0 1 238048325 rs2298100 A G 2199.77 PASS AC=2;AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eZP4,LOC100130331;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611898.4,ENST00000450451.1,ENST00000366570.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2298100;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7827;1000g2015aug_sas=0.8548;1000g2015aug_eur=0.8956;1000g2015aug_afr=0.9592;1000g2015aug_amr=0.866;1000g2015aug_all=0.877596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,64:64:99:2228,192,0 1 238051933 rs2236595 C T 200.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331,ZP4;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611898.4,ENST00000450451.1,ENST00000366570.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2236595;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6548;1000g2015aug_sas=0.7311;1000g2015aug_eur=0.508;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.5461;1000g2015aug_all=0.695288;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:229,21,0 1 238053524 rs538499 T C 681.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.616;DP=39;ExcessHet=3.0103;FS=3.33;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.874;SOR=1.56;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331,ZP4;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000611898.4,ENST00000450451.1,ENST00000366570.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs538499;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.631;1000g2015aug_sas=0.5675;1000g2015aug_eur=0.333;1000g2015aug_afr=0.3275;1000g2015aug_amr=0.3458;1000g2015aug_all=0.439097;esp6500siv2_all=0.3289;ExAC_ALL=0.3729;ExAC_AFR=0.3424;ExAC_AMR=0.4000;ExAC_EAS=0.6210;ExAC_FIN=0.2665;ExAC_NFE=0.3171;ExAC_OTH=0.3481;ExAC_SAS=0.5123;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,21:39:99:710,0,634 1 238064812 rs146276810 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs146276810;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0112;1000g2015aug_eur=0.0129;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0029;1000g2015aug_all=0.00539137;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 238078973 rs3999798 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.933387\x3bName\x3echr19:21886755;Repeat=Score\x3e8436\x3bName\x3e"423606:LTR13(LTR)";avsnp150=rs3999798;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4286;1000g2015aug_sas=0.4059;1000g2015aug_eur=0.2346;1000g2015aug_afr=0.4766;1000g2015aug_amr=0.2853;1000g2015aug_all=0.377995;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238078981 rs496231 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_intronic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.933387\x3bName\x3echr19:21886755;Repeat=Score\x3e8436\x3bName\x3e"423606:LTR13(LTR)";avsnp150=rs496231;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4266;1000g2015aug_sas=0.407;1000g2015aug_eur=0.2445;1000g2015aug_afr=0.7587;1000g2015aug_amr=0.3141;1000g2015aug_all=0.458267;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238090257 rs548164 A G 39.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.524;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_exonic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs548164;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.7519;1000g2015aug_amr=0.3156;1000g2015aug_all=0.458466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:68:68,0,110 1 238090514 rs545540 T A 226.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.493;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.68;ReadPosRankSum=0.37;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_exonic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs545540;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.3141;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,8:10:54:255,0,54 1 238090615 rs2790341 T C 322.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.536;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.05;ReadPosRankSum=-2.179;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eLOC100130331;Func=ncRNA_exonic;Gene=NR_027247;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000450451.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2790341;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4355;1000g2015aug_sas=0.4049;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.7292;1000g2015aug_amr=0.3141;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:351,0,225 1 238339536 rs6429061 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e247917\x3bdist\x3e304148;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2282\x3bName\x3e"424050:AluSx(SINE)";avsnp150=rs6429061;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7669;1000g2015aug_sas=0.6922;1000g2015aug_eur=0.828;1000g2015aug_afr=0.8956;1000g2015aug_amr=0.9078;1000g2015aug_all=0.818091;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238339548 rs7415950 G C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e247929\x3bdist\x3e304136;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2282\x3bName\x3e"424050:AluSx(SINE)";avsnp150=rs7415950;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0099;1000g2015aug_sas=0.2076;1000g2015aug_eur=0.2227;1000g2015aug_afr=0.0113;1000g2015aug_amr=0.2075;1000g2015aug_all=0.11901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238396391 rs978625 C G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e304772\x3bdist\x3e247293;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs978625;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.871;1000g2015aug_sas=0.907;1000g2015aug_eur=0.9583;1000g2015aug_afr=0.6021;1000g2015aug_amr=0.8934;1000g2015aug_all=0.827676;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 238396404 rs978626 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e304785\x3bdist\x3e247280;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs978626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9772;1000g2015aug_sas=0.9724;1000g2015aug_eur=0.9911;1000g2015aug_afr=0.7352;1000g2015aug_amr=0.9337;1000g2015aug_all=0.909145;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 238476357 rs1383643 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e384738\x3bdist\x3e167327;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1383643;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.5166;1000g2015aug_amr=0.3732;1000g2015aug_all=0.321685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238476362 rs2392808 T G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e384743\x3bdist\x3e167322;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2392808;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.2382;1000g2015aug_eur=0.2654;1000g2015aug_afr=0.5159;1000g2015aug_amr=0.3631;1000g2015aug_all=0.315495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238476366 rs1383644 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_027247,NR_015407;GeneDetail=dist\x3e384747\x3bdist\x3e167318;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1383644;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1448;1000g2015aug_sas=0.2485;1000g2015aug_eur=0.2783;1000g2015aug_afr=0.5151;1000g2015aug_amr=0.3718;1000g2015aug_all=0.321086;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238654880 rs10218635 G A 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=9;ExcessHet=3.0103;FS=6.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.465;SOR=1.426;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e5563\x3bdist\x3e895350;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442726.1;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.899639\x3bName\x3echrX:92459617;Repeat=.;avsnp150=rs10218635;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5665;1000g2015aug_sas=0.3119;1000g2015aug_eur=0.2555;1000g2015aug_afr=0.329;1000g2015aug_amr=0.3487;1000g2015aug_all=0.361422;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,148 1 238655362 rs2392861 A G 321.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e6045\x3bdist\x3e894868;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442726.1;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.899639\x3bName\x3echrX:92459617;Repeat=.;avsnp150=rs2392861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7718;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5905;1000g2015aug_afr=0.4713;1000g2015aug_amr=0.611;1000g2015aug_all=0.585463;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:350,30,0 1 238655389 rs2392862 G T 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.293;DP=14;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.062;SOR=0.307;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e6072\x3bdist\x3e894841;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442726.1;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.899639\x3bName\x3echrX:92459617;Repeat=.;avsnp150=rs2392862;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2034;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.335;1000g2015aug_afr=0.0514;1000g2015aug_amr=0.2594;1000g2015aug_all=0.199281;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:258,0,174 1 238856249 rs72632883 T G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e206932\x3bdist\x3e693981;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs72632883;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.4243;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2209;1000g2015aug_amr=0.3761;1000g2015aug_all=0.346845;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 238856268 rs12404022 G T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e206951\x3bdist\x3e693962;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12404022;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4554;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.3082;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.3761;1000g2015aug_all=0.346446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 238856276 rs76806925 A C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e206959\x3bdist\x3e693954;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e13\x3bName\x3e"424981:(CACCC)n(Simple_repeat)";avsnp150=rs76806925;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4544;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.3101;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.3761;1000g2015aug_all=0.346645;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 239216238 rs12759966 C T 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e566921\x3bdist\x3e333992;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12759966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.5976;1000g2015aug_amr=0.7233;1000g2015aug_all=0.780152;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,141 1 239216239 rs12741374 A G 49.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.383;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.105;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e566922\x3bdist\x3e333991;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12741374;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8591;1000g2015aug_sas=0.9131;1000g2015aug_eur=0.8509;1000g2015aug_afr=0.5991;1000g2015aug_amr=0.7248;1000g2015aug_all=0.780751;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:78:78,0,141 1 239454492 rs111484148 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e805175\x3bdist\x3e95738;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1773\x3bName\x3e"426058:AluJo(SINE)";avsnp150=rs111484148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0744;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.168;1000g2015aug_afr=0.0915;1000g2015aug_amr=0.134;1000g2015aug_all=0.124401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 239454498 rs4472744 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_015407,NM_001347716;GeneDetail=dist\x3e805181\x3bdist\x3e95732;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1773\x3bName\x3e"426058:AluJo(SINE)";avsnp150=rs4472744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8404;1000g2015aug_amr=0.987;1000g2015aug_all=0.95607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 239732017 rs9725018 C T 93.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intronic;Gene=NM_001347716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9725018;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.997;1000g2015aug_sas=0.8845;1000g2015aug_eur=0.9801;1000g2015aug_afr=0.8865;1000g2015aug_amr=0.9841;1000g2015aug_all=0.940695;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:121,12,0 1 239868385 rs10737838 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHRM3;Func=intronic;Gene=NM_000740,NM_001347716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615928.4,ENST00000255380.8,ENST00000427859.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1851\x3bName\x3e"426772:AluJr4(SINE)";avsnp150=rs10737838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4008;1000g2015aug_sas=0.4458;1000g2015aug_eur=0.4284;1000g2015aug_afr=0.3434;1000g2015aug_amr=0.451;1000g2015aug_all=0.406949;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 239901645 rs1416789 A G 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHRM3;Func=intronic;Gene=NM_000740,NM_001347716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000255380.8,ENST00000615928.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1416789;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4028;1000g2015aug_sas=0.4652;1000g2015aug_eur=0.4513;1000g2015aug_afr=0.4281;1000g2015aug_amr=0.5389;1000g2015aug_all=0.45028;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 239980968 rs1072064 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHRM3;Func=intronic;Gene=NM_000740,NM_001347716;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000615928.4,ENST00000255380.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1072064;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.2648;1000g2015aug_eur=0.2714;1000g2015aug_afr=0.3245;1000g2015aug_amr=0.1585;1000g2015aug_all=0.308307;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 240116330 rs12083364 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e37581\x3bdist\x3e54494;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083364;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.2608;1000g2015aug_all=0.219848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 240116430 rs12083398 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e37681\x3bdist\x3e54394;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12083398;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.246;1000g2015aug_sas=0.2137;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.1036;1000g2015aug_amr=0.2608;1000g2015aug_all=0.219848;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 240117637 rs10926029 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e38888\x3bdist\x3e53187;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926029;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.5194;1000g2015aug_eur=0.498;1000g2015aug_afr=0.938;1000g2015aug_amr=0.5591;1000g2015aug_all=0.669928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 240117721 rs10926030 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e38972\x3bdist\x3e53103;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926030;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.244;1000g2015aug_sas=0.1687;1000g2015aug_eur=0.2296;1000g2015aug_afr=0.1679;1000g2015aug_amr=0.2219;1000g2015aug_all=0.203275;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 240117783 rs10926031 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e39034\x3bdist\x3e53041;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926031;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7123;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.498;1000g2015aug_afr=0.938;1000g2015aug_amr=0.5591;1000g2015aug_all=0.670128;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 240117786 rs10926032 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001347716,NR_036695;GeneDetail=dist\x3e39037\x3bdist\x3e53038;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926032;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.245;1000g2015aug_sas=0.2147;1000g2015aug_eur=0.327;1000g2015aug_afr=0.1989;1000g2015aug_amr=0.268;1000g2015aug_all=0.246605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 240222484 rs71646819 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036695,NM_020066;GeneDetail=dist\x3e45924\x3bdist\x3e32701;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2389\x3bName\x3e"427388:AluSx(SINE)";avsnp150=rs71646819;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.093;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.1599;1000g2015aug_all=0.133387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 240222504 rs79381814 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036695,NM_020066;GeneDetail=dist\x3e45944\x3bdist\x3e32681;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2389\x3bName\x3e"427388:AluSx(SINE)";avsnp150=rs79381814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.093;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.1599;1000g2015aug_all=0.133387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 240222505 rs77891898 G A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_036695,NM_020066;GeneDetail=dist\x3e45945\x3bdist\x3e32680;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2389\x3bName\x3e"427388:AluSx(SINE)";avsnp150=rs77891898;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.001;1000g2015aug_sas=0.093;1000g2015aug_eur=0.2157;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.1599;1000g2015aug_all=0.133387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 240254828 rs10754691 T C 355.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.66;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754691;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.7478;1000g2015aug_all=0.702276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:384,30,0 1 240254874 rs7521945 T C 602.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.127;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7521945;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4524;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.7883;1000g2015aug_afr=0.7549;1000g2015aug_amr=0.7478;1000g2015aug_all=0.699081;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:631,60,0 1 240255203 rs12727981 G T 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.2;SOR=1.981;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=UTR5;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=NM_001305424:c.-207G>T\x3bNM_001348094:c.-207G>T\x3bNM_020066:c.-207G>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e17\x3bName\x3e"427467:(AGCCGC)n(Simple_repeat)";avsnp150=rs12727981;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3016;1000g2015aug_sas=0.4836;1000g2015aug_eur=0.5348;1000g2015aug_afr=0.0908;1000g2015aug_amr=0.3372;1000g2015aug_all=0.333267;esp6500siv2_all=.;ExAC_ALL=0.5084;ExAC_AFR=0.2;ExAC_AMR=0.75;ExAC_EAS=0.5;ExAC_FIN=1;ExAC_NFE=0.5563;ExAC_OTH=1;ExAC_SAS=0.5;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 240256822 rs10926124 C A 2543.77 PASS AC=2;AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=2.03;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=exonic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMN2:NM_001305424:exon1:c.C1413A:p.A471A,FMN2:NM_001348094:exon1:c.C1413A:p.A471A,FMN2:NM_020066:exon1:c.C1413A:p.A471A;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926124;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3006;1000g2015aug_sas=0.4796;1000g2015aug_eur=0.5249;1000g2015aug_afr=0.09;1000g2015aug_amr=0.3357;1000g2015aug_all=0.329872;esp6500siv2_all=0.3972;ExAC_ALL=0.4777;ExAC_AFR=0.1741;ExAC_AMR=0.3928;ExAC_EAS=0.3367;ExAC_FIN=0.4740;ExAC_NFE=0.5348;ExAC_OTH=0.4870;ExAC_SAS=0.5460;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,73:73:99:2572,219,0 1 240286773 rs3820506 C G 531.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.532;DP=35;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.281;SOR=1.828;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3820506;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1637;1000g2015aug_sas=0.2403;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.0318;1000g2015aug_amr=0.1542;1000g2015aug_all=0.182508;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,17:35:99:560,0,447 1 240305806 rs78445826 G T 267.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.007;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.422;SOR=0.175;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs78445826;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2423;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.2557;1000g2015aug_amr=0.1268;1000g2015aug_all=0.210863;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:296,0,310 1 240305899 rs12746598 C T 819.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.16;DP=58;ExcessHet=3.0103;FS=3.769;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.374;SOR=1.292;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12746598;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.251;1000g2015aug_sas=0.4018;1000g2015aug_eur=0.336;1000g2015aug_afr=0.1082;1000g2015aug_amr=0.3617;1000g2015aug_all=0.27516;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:27,31:58:99:848,0,647 1 240307048 rs16848431 C T 645.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.025;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.99;SOR=0.61;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs16848431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.1254;1000g2015aug_all=0.205871;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,24:47:99:674,0,649 1 240307380 rs76903763 A G 478.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.494;DP=32;ExcessHet=3.0103;FS=1.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.492;SOR=0.986;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs76903763;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2024;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.1938;1000g2015aug_afr=0.2337;1000g2015aug_amr=0.1254;1000g2015aug_all=0.207468;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,17:32:99:507,0,460 1 240307389 rs2355833 C G 1147.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.99;SOR=0.836;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2355833;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5198;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.668;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.5922;1000g2015aug_all=0.696685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:1176,84,0 1 240307892 rs1539200 A G 1046.77 PASS AC=2;AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=0.756;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1539200;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.6881;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.5836;1000g2015aug_all=0.69389;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,31:31:93:1075,93,0 1 240307961 rs1471089 A G 683.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.141;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=1.007;SOR=0.727;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1471089;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2464;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.2383;1000g2015aug_amr=0.1167;1000g2015aug_all=0.203674;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,22:35:99:712,0,336 1 240308147 rs10926139 T C 1137.77 PASS AC=2;AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=0.818;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926139;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5188;1000g2015aug_sas=0.7127;1000g2015aug_eur=0.6879;1000g2015aug_afr=0.9213;1000g2015aug_amr=0.5908;1000g2015aug_all=0.706869;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,32:32:96:1166,96,0 1 240308200 rs12127949 T C 1052.77 PASS AC=2;AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.08;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127949;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.6912;1000g2015aug_eur=0.6561;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.5821;1000g2015aug_all=0.690495;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,30:30:90:1081,90,0 1 240308280 rs73128587 G C 408.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.932;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.568;SOR=0.569;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs73128587;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2495;1000g2015aug_eur=0.1859;1000g2015aug_afr=0.2345;1000g2015aug_amr=0.1182;1000g2015aug_all=0.204273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,15:29:99:437,0,361 1 240308348 rs10926140 C G 936.77 PASS AC=2;AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=0.997;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926140;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.502;1000g2015aug_sas=0.6953;1000g2015aug_eur=0.659;1000g2015aug_afr=0.9183;1000g2015aug_amr=0.585;1000g2015aug_all=0.692692;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,28:28:84:965,84,0 1 240308366 rs12127948 A G 334.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.03;DP=26;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.154;SOR=0.442;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12127948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.252;1000g2015aug_sas=0.4039;1000g2015aug_eur=0.3439;1000g2015aug_afr=0.2322;1000g2015aug_amr=0.3761;1000g2015aug_all=0.312101;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,13:26:99:363,0,363 1 240308382 rs10926141 C A 734.77 PASS AC=2;AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=1.136;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926141;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4484;1000g2015aug_sas=0.6431;1000g2015aug_eur=0.5239;1000g2015aug_afr=0.6362;1000g2015aug_amr=0.4914;1000g2015aug_all=0.557109;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,25:25:74:763,74,0 1 240308410 rs17669345 T C 330.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.771;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.493;SOR=1.058;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs17669345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1964;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.1909;1000g2015aug_afr=0.1581;1000g2015aug_amr=0.1196;1000g2015aug_all=0.185104;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,11:22:99:359,0,288 1 240341119 rs3765590 A G 282.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.074;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.708;SOR=0.804;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765590;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.329;1000g2015aug_amr=0.1138;1000g2015aug_all=0.233826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:8,9:17:99:311,0,271 1 240341164 rs3765589 C T 537.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.27;DP=34;ExcessHet=3.0103;FS=9.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.553;SOR=3.5;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000412311.5,ENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765589;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.329;1000g2015aug_amr=0.1138;1000g2015aug_all=0.233826;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:18,16:34:99:566,0,555 1 240341268 rs3765588 A G 1124.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.028;DP=83;ExcessHet=3.0103;FS=0.839;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=2.355;SOR=0.855;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=exonic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMN2:NM_001305424:exon3:c.A1830G:p.S610S,FMN2:NM_001348094:exon3:c.A1830G:p.S610S,FMN2:NM_020066:exon3:c.A1830G:p.S610S;Gencode=Name\x3eENST00000319653.13,ENST00000412311.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3765588;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.2822;1000g2015aug_eur=0.1789;1000g2015aug_afr=0.3283;1000g2015aug_amr=0.1138;1000g2015aug_all=0.238419;esp6500siv2_all=0.2263;ExAC_ALL=0.2178;ExAC_AFR=0.2963;ExAC_AMR=0.1087;ExAC_EAS=0.2235;ExAC_FIN=0.2035;ExAC_NFE=0.2023;ExAC_OTH=0.2742;ExAC_SAS=0.3065;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:42,41:83:99:1153,0,1014 1 240341423 rs55930966 G T 695.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.109;DP=52;ExcessHet=3.0103;FS=2.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.286;SOR=1.302;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000412311.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs55930966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.329;1000g2015aug_amr=0.1138;1000g2015aug_all=0.234026;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,23:52:99:724,0,816 1 240343621 rs7519493 A G 84.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7519493;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2222;1000g2015aug_sas=0.2577;1000g2015aug_eur=0.1779;1000g2015aug_afr=0.329;1000g2015aug_amr=0.1138;1000g2015aug_all=0.233427;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,3:4:28:113,0,28 1 240343698 rs7555280 C A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7555280;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3065;1000g2015aug_sas=0.3476;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.4539;1000g2015aug_amr=0.1801;1000g2015aug_all=0.323882;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 240350177 rs9970852 A T 52.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970852;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.6452;1000g2015aug_eur=0.5229;1000g2015aug_afr=0.5681;1000g2015aug_amr=0.4265;1000g2015aug_all=0.509784;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:80,6,0 1 240351628 rs4659948 T C 2047.77 PASS AC=2;AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.098;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659948;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3601;1000g2015aug_sas=0.6493;1000g2015aug_eur=0.5845;1000g2015aug_afr=0.7905;1000g2015aug_amr=0.4726;1000g2015aug_all=0.590855;esp6500siv2_all=0.6533;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,68:68:99:2076,203,0 1 240359089 rs12747809 G A 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1754\x3bName\x3e"427660:AluJo(SINE)";avsnp150=rs12747809;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3671;1000g2015aug_sas=0.6861;1000g2015aug_eur=0.66;1000g2015aug_afr=0.6104;1000g2015aug_amr=0.5058;1000g2015aug_all=0.571685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 240370629 rs10926166 C G 1307.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.493;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.206;SOR=0.629;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=exonic;Gene=NM_001305424,NM_020066;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=FMN2:NM_020066:exon5:c.C2517G:p.T839T,FMN2:NM_001305424:exon6:c.C2529G:p.T843T;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.896899\x3bName\x3echrX:26504256;Repeat=.;avsnp150=rs10926166;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1032;1000g2015aug_sas=0.4151;1000g2015aug_eur=0.4066;1000g2015aug_afr=0.2617;1000g2015aug_amr=0.2507;1000g2015aug_all=0.28734;esp6500siv2_all=0.3546;ExAC_ALL=0.3481;ExAC_AFR=0.2850;ExAC_AMR=0.2015;ExAC_EAS=0.1066;ExAC_FIN=0.4733;ExAC_NFE=0.3923;ExAC_OTH=0.3425;ExAC_SAS=0.3888;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:57,48:105:99:1336,0,1598 1 240421383 rs10926181 G A 229.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.02;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.437;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926181;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8403;1000g2015aug_sas=0.5971;1000g2015aug_eur=0.6103;1000g2015aug_afr=0.9539;1000g2015aug_amr=0.7795;1000g2015aug_all=0.768171;esp6500siv2_all=0.7212;ExAC_ALL=0.6819;ExAC_AFR=0.9068;ExAC_AMR=0.8163;ExAC_EAS=0.8356;ExAC_FIN=0.5757;ExAC_NFE=0.6297;ExAC_OTH=0.7036;ExAC_SAS=0.6239;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,8:14:99:258,0,208 1 240421437 rs10926182 C T 114.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.272;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926182;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.3139;1000g2015aug_eur=0.3658;1000g2015aug_afr=0.3676;1000g2015aug_amr=0.5648;1000g2015aug_all=0.423123;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,131 1 240448434 rs6673167 G T 1009.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.382;DP=81;ExcessHet=3.0103;FS=0.868;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.167;SOR=0.564;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1551\x3bName\x3e"427789:L2c(LINE)";avsnp150=rs6673167;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1458;1000g2015aug_sas=0.1258;1000g2015aug_eur=0.1074;1000g2015aug_afr=0.1793;1000g2015aug_amr=0.0821;1000g2015aug_all=0.134185;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:41,40:81:99:1038,0,1258 1 240492543 rs6686353 G A 608.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.471;DP=51;ExcessHet=3.0103;FS=4.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.354;SOR=1.473;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6686353;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5;1000g2015aug_sas=0.4928;1000g2015aug_eur=0.4712;1000g2015aug_afr=0.9206;1000g2015aug_amr=0.6427;1000g2015aug_all=0.623602;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:28,23:51:99:637,0,778 1 240492734 rs3795677 G A 527.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.239;DP=58;ExcessHet=3.0103;FS=1.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.055;SOR=0.894;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=exonic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=FMN2:NM_001348094:exon8:c.G2324A:p.R775H,FMN2:NM_020066:exon10:c.G4403A:p.R1468H,FMN2:NM_001305424:exon11:c.G4415A:p.R1472H;Gencode=Name\x3eENST00000545751.2,ENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795677;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.2883;1000g2015aug_afr=0.3381;1000g2015aug_amr=0.3588;1000g2015aug_all=0.320887;esp6500siv2_all=0.2878;ExAC_ALL=0.3027;ExAC_AFR=0.3156;ExAC_AMR=0.3931;ExAC_EAS=0.3111;ExAC_FIN=0.2635;ExAC_NFE=0.2841;ExAC_OTH=0.3029;ExAC_SAS=0.3176;SIFT_score=0.332;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.027;LRT_pred=N;MutationTaster_score=0.777;MutationTaster_pred=P;MutationAssessor_score=0.755;MutationAssessor_pred=N;FATHMM_score=2.21;FATHMM_pred=T;phyloP100way_vertebrate=-0.086;phyloP20way_mammalian=-0.333;SiPhy_29way_logOdds=11.889;gerp++gt2=.;CADD=2.687;CADD_Phred=20.7;ALLELE_END GT:AD:DP:GQ:PL 0/1:34,24:58:99:556,0,839 1 240492952 rs3795679 G C 123.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.216;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=0.185;SOR=1.565;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795679;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3185;1000g2015aug_sas=0.3067;1000g2015aug_eur=0.2913;1000g2015aug_afr=0.3389;1000g2015aug_amr=0.3588;1000g2015aug_all=0.321685;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:14,5:19:99:152,0,391 1 240497265 rs10157874 A C 142.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.55;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.063;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545751.2,ENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"427859:(ATTATTC)n(Simple_repeat)";avsnp150=rs10157874;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.5092;1000g2015aug_eur=0.5119;1000g2015aug_afr=0.9244;1000g2015aug_amr=0.7046;1000g2015aug_all=0.65016;esp6500siv2_all=0.6214;ExAC_ALL=0.5717;ExAC_AFR=0.8730;ExAC_AMR=0.7787;ExAC_EAS=0.5408;ExAC_FIN=0.5200;ExAC_NFE=0.5076;ExAC_OTH=0.5756;ExAC_SAS=0.5298;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:171,0,176 1 240497657 rs10926220 C T 213.1 PASS AC=2;AF=1;AN=2;BaseQRankSum=1.465;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=30.44;ReadPosRankSum=-0.792;SOR=2.584;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000545751.2,ENST00000319653.13;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926220;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.499;1000g2015aug_sas=0.4468;1000g2015aug_eur=0.3628;1000g2015aug_afr=0.4228;1000g2015aug_amr=0.5778;1000g2015aug_all=0.452276;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:1,6:7:11:241,11,0 1 240601269 rs2356386 A G 731.77 PASS AC=2;AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=4.514;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2356386;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9752;1000g2015aug_sas=0.816;1000g2015aug_eur=0.9145;1000g2015aug_afr=0.9939;1000g2015aug_amr=0.9063;1000g2015aug_all=0.927316;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,19:19:57:760,57,0 1 240601632 rs2356387 A G 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.967;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2356387;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0635;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.3858;1000g2015aug_amr=0.1916;1000g2015aug_all=0.239816;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,2:3:28:75,0,28 1 240635491 rs2210861 G C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.2;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=intronic;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000543681.1,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2210861;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9939;1000g2015aug_eur=0.9622;1000g2015aug_afr=0.997;1000g2015aug_amr=0.9928;1000g2015aug_all=0.989417;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 240637571 rs882869 A G 1240.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=1.666;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFMN2;Func=UTR3;Gene=NM_001305424,NM_001348094,NM_020066;GeneDetail=NM_001305424:c.*117A>G\x3bNM_001348094:c.*117A>G\x3bNM_020066:c.*117A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000319653.13,ENST00000545751.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs882869;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.2853;1000g2015aug_eur=0.326;1000g2015aug_afr=0.093;1000g2015aug_amr=0.4092;1000g2015aug_all=0.30012;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,41:41:99:1269,123,0 1 240643167 rs11578184 A C 774.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=6.091;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020066,NM_022469;GeneDetail=dist\x3e4678\x3bdist\x3e9706;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e590\x3bName\x3e"428125:L1M7(LINE)";avsnp150=rs11578184;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.2859;1000g2015aug_amr=0.4625;1000g2015aug_all=0.380192;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:803,60,0 1 240643184 rs9442211 C T 1007.77 PASS AC=2;AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=5.136;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020066,NM_022469;GeneDetail=dist\x3e4695\x3bdist\x3e9689;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e590\x3bName\x3e"428125:L1M7(LINE)";avsnp150=rs9442211;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4812;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.3966;1000g2015aug_afr=0.4894;1000g2015aug_amr=0.4784;1000g2015aug_all=0.436102;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,26:26:78:1036,78,0 1 240643435 rs12748248 A T 1378.77 PASS AC=2;AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_020066,NM_022469;GeneDetail=dist\x3e4946\x3bdist\x3e9438;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e590\x3bName\x3e"428125:L1M7(LINE)";avsnp150=rs12748248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4821;1000g2015aug_sas=0.3282;1000g2015aug_eur=0.3897;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.4582;1000g2015aug_all=0.378195;esp6500siv2_all=.;ExAC_ALL=0.3741;ExAC_AFR=0.3059;ExAC_AMR=0.4286;ExAC_EAS=0.4688;ExAC_FIN=.;ExAC_NFE=0.4077;ExAC_OTH=0.4;ExAC_SAS=0.3616;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,40:40:99:1407,119,0 1 240655330 rs9287248 G A 155.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.316;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.784;SOR=1.802;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGREM2;Func=UTR3;Gene=NM_022469;GeneDetail=NM_022469:c.*939C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318160.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9287248;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8145;1000g2015aug_sas=0.7219;1000g2015aug_eur=0.66;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.7075;1000g2015aug_all=0.727436;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,6:11:99:184,0,108 1 240656797 rs11806449 G A 1045.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.992;DP=91;ExcessHet=3.0103;FS=10.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.816;SOR=2.053;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGREM2;Func=intronic;Gene=NM_022469;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318160.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11806449;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3214;1000g2015aug_sas=0.3364;1000g2015aug_eur=0.1819;1000g2015aug_afr=0.053;1000g2015aug_amr=0.1599;1000g2015aug_all=0.203075;esp6500siv2_all=0.1462;ExAC_ALL=0.2380;ExAC_AFR=0.0737;ExAC_AMR=0.1766;ExAC_EAS=0.3421;ExAC_FIN=0.2426;ExAC_NFE=0.2230;ExAC_OTH=0.2594;ExAC_SAS=0.3653;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:54,37:91:99:1074,0,1538 1 240656841 rs45519645 A T 625.73 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.331;DP=49;ExcessHet=3.0103;FS=1.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-2.538;SOR=1.101;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eGREM2;Func=intronic;Gene=NM_022469;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000318160.4;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1826\x3bName\x3e"428147:AluJr(SINE)";avsnp150=rs45519645;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3462;1000g2015aug_sas=0.3855;1000g2015aug_eur=0.2525;1000g2015aug_afr=0.112;1000g2015aug_amr=0.2176;1000g2015aug_all=0.255391;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:30,19:49:99:663,0,1354 1 240839960 rs12741132 A G 47.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.524;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022469,NM_001350114;GeneDetail=dist\x3e64498\x3bdist\x3e98854;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2651\x3bName\x3e"428550:AluSc8(SINE)";avsnp150=rs12741132;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4692;1000g2015aug_sas=0.3978;1000g2015aug_eur=0.4404;1000g2015aug_afr=0.5;1000g2015aug_amr=0.5519;1000g2015aug_all=0.46905;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:34:76,0,34 1 240844197 rs34956156 G A 55.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022469,NM_001350114;GeneDetail=dist\x3e68735\x3bdist\x3e94617;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2556\x3bName\x3e"428557:AluYf1(SINE)";avsnp150=rs34956156;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5774;1000g2015aug_sas=0.5204;1000g2015aug_eur=0.5527;1000g2015aug_afr=0.2943;1000g2015aug_amr=0.4798;1000g2015aug_all=0.473043;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:83,6,0 1 240856048 rs6429219 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_022469,NM_001350114;GeneDetail=dist\x3e80586\x3bdist\x3e82766;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2285\x3bName\x3e"428584:AluSz(SINE)";avsnp150=rs6429219;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5446;1000g2015aug_sas=0.5552;1000g2015aug_eur=0.6064;1000g2015aug_afr=0.7315;1000g2015aug_amr=0.683;1000g2015aug_all=0.627596;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 240939391 rs12757054 C T 483.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.978;DP=64;ExcessHet=3.0103;FS=7.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.56;ReadPosRankSum=-0.478;SOR=1.754;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=UTR3;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=NM_001282773:c.*129G>A\x3bNM_001282775:c.*129G>A\x3bNM_001282778:c.*72G>A\x3bNM_001350113:c.*129G>A\x3bNM_001350114:c.*129G>A\x3bNM_001350115:c.*72G>A\x3bNM_001350116:c.*72G>A\x3bNM_002924:c.*72G>A;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366564.5,ENST00000366565.5,ENST00000366562.8,ENST00000366563.5,ENST00000348120.6,ENST00000446183.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12757054;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0268;1000g2015aug_sas=0.0787;1000g2015aug_eur=0.0746;1000g2015aug_afr=0.031;1000g2015aug_amr=0.0418;1000g2015aug_all=0.0497204;esp6500siv2_all=0.0751;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,20:64:99:512,0,1169 1 240975213 rs2275742 T C 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.085;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.231;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366565.5,ENST00000366562.8,ENST00000366564.5,ENST00000401882.2,ENST00000348120.6,ENST00000446183.6,ENST00000366563.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275742;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.2148;1000g2015aug_amr=0.428;1000g2015aug_all=0.404553;esp6500siv2_all=0.4735;ExAC_ALL=0.5060;ExAC_AFR=0.2596;ExAC_AMR=0.4093;ExAC_EAS=0.4555;ExAC_FIN=0.6355;ExAC_NFE=0.5720;ExAC_OTH=0.5143;ExAC_SAS=0.4335;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,148 1 240975435 rs2275744 C T 111.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.819;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446183.6,ENST00000348120.6,ENST00000366563.5,ENST00000366562.8,ENST00000366565.5,ENST00000366564.5,ENST00000401882.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2275744;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4683;1000g2015aug_sas=0.4233;1000g2015aug_eur=0.5557;1000g2015aug_afr=0.2141;1000g2015aug_amr=0.428;1000g2015aug_all=0.404353;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,182 1 240977964 rs12744536 G T 65.28 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366564.5,ENST00000366565.5,ENST00000366562.8,ENST00000401882.2,ENST00000366563.5,ENST00000348120.6,ENST00000446183.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12744536;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4851;1000g2015aug_sas=0.5665;1000g2015aug_eur=0.7058;1000g2015aug_afr=0.3752;1000g2015aug_amr=0.5778;1000g2015aug_all=0.529153;esp6500siv2_all=0.6311;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0 1 240979803 rs3738068 G A 722.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=5.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401882.2,ENST00000366564.5,ENST00000366562.8,ENST00000366565.5,ENST00000446183.6,ENST00000348120.6,ENST00000366563.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738068;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5933;1000g2015aug_sas=0.6084;1000g2015aug_eur=0.7614;1000g2015aug_afr=0.8079;1000g2015aug_amr=0.6412;1000g2015aug_all=0.693291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:751,54,0 1 240979870 rs3738069 A T 97.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000401882.2,ENST00000366562.8,ENST00000366565.5,ENST00000366564.5,ENST00000446183.6,ENST00000348120.6,ENST00000366563.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3738069;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1171;1000g2015aug_sas=0.1677;1000g2015aug_eur=0.2028;1000g2015aug_afr=0.3048;1000g2015aug_amr=0.1931;1000g2015aug_all=0.204273;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:125,9,0 1 240991571 rs12410838 C T 146.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366564.5,ENST00000366562.8,ENST00000366565.5,ENST00000401882.2,ENST00000446183.6,ENST00000348120.6,ENST00000366563.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12410838;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6448;1000g2015aug_sas=0.7515;1000g2015aug_eur=0.8569;1000g2015aug_afr=0.9342;1000g2015aug_amr=0.8314;1000g2015aug_all=0.810503;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:175,15,0 1 241043438 rs12760014 C A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000348120.6,ENST00000446183.6,ENST00000401882.2,ENST00000366564.5,ENST00000366565.5,ENST00000366562.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1841\x3bName\x3e"428942:AluJo(SINE)";avsnp150=rs12760014;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5278;1000g2015aug_sas=0.5051;1000g2015aug_eur=0.502;1000g2015aug_afr=0.2799;1000g2015aug_amr=0.5115;1000g2015aug_all=0.450479;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 241100122 rs261857 G T 198.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-0.921;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000446183.6,ENST00000348120.6,ENST00000366562.8,ENST00000366565.5,ENST00000366564.5,ENST00000401882.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3726\x3bName\x3e"429025:LTR10B1(LTR)";avsnp150=rs261857;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.248;1000g2015aug_sas=0.3916;1000g2015aug_eur=0.4602;1000g2015aug_afr=0.2602;1000g2015aug_amr=0.4352;1000g2015aug_all=0.347843;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:227,0,59 1 241134342 rs7532910 C A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000348120.6,ENST00000446183.6,ENST00000366565.5,ENST00000366562.8,ENST00000366564.5,ENST00000401882.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7532910;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.9847;1000g2015aug_eur=0.9006;1000g2015aug_afr=0.7088;1000g2015aug_amr=0.9207;1000g2015aug_all=0.889177;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 241146322 rs7520707 A G 96.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.532;DP=14;ExcessHet=3.0103;FS=6.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=1.277;SOR=1.447;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000446183.6,ENST00000348120.6,ENST00000401882.2,ENST00000366562.8,ENST00000366565.5,ENST00000366564.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7520707;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2857;1000g2015aug_sas=0.3845;1000g2015aug_eur=0.4314;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.4006;1000g2015aug_all=0.35603;esp6500siv2_all=0.3799;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,4:14:99:125,0,307 1 241185048 rs6663803 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000446183.6,ENST00000348120.6,ENST00000401882.2,ENST00000366564.5,ENST00000366562.8,ENST00000366565.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6663803;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1161;1000g2015aug_sas=0.1564;1000g2015aug_eur=0.1282;1000g2015aug_afr=0.407;1000g2015aug_amr=0.1787;1000g2015aug_all=0.211861;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241185050 rs10926393 C A 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446183.6,ENST00000348120.6,ENST00000366563.5,ENST00000401882.2,ENST00000366564.5,ENST00000366562.8,ENST00000366565.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926393;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0933;1000g2015aug_sas=0.0757;1000g2015aug_eur=0.0736;1000g2015aug_afr=0.0847;1000g2015aug_amr=0.1182;1000g2015aug_all=0.0870607;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241261787 rs12026118 C T 80.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.14;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.936;SOR=0.527;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000446183.6,ENST00000348120.6,ENST00000366563.5,ENST00000366562.8,ENST00000366565.5,ENST00000366564.5,ENST00000401882.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12026118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1796;1000g2015aug_sas=0.1738;1000g2015aug_eur=0.2177;1000g2015aug_afr=0.2201;1000g2015aug_amr=0.2089;1000g2015aug_all=0.200879;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,4:9:99:109,0,150 1 241519098 rs4659599 T A 2665.77 PASS AC=2;AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.347;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=UTR5;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_001350116,NM_002924;GeneDetail=NM_001282773:c.-22A>T\x3bNM_001282775:c.-22A>T\x3bNM_001282778:c.-22A>T\x3bNM_001350113:c.-257036A>T\x3bNM_001350114:c.-257036A>T\x3bNM_001350115:c.-257036A>T\x3bNM_001350116:c.-257036A>T\x3bNM_002924:c.-22A>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366563.5,ENST00000366565.5,ENST00000366564.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9921;1000g2015aug_sas=0.9898;1000g2015aug_eur=0.9881;1000g2015aug_afr=0.8321;1000g2015aug_amr=0.9899;1000g2015aug_all=0.948283;esp6500siv2_all=0.9511;ExAC_ALL=0.9778;ExAC_AFR=0.8684;ExAC_AMR=0.9896;ExAC_EAS=0.9965;ExAC_FIN=0.9944;ExAC_NFE=0.9860;ExAC_OTH=0.9856;ExAC_SAS=0.9882;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,84:84:99:2694,251,0 1 241519317 rs6677041 A G 139.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eRGS7;Func=intronic;Gene=NM_001282773,NM_001282775,NM_001282778,NM_001350113,NM_001350114,NM_001350115,NM_002924;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366564.5,ENST00000366565.5,ENST00000366563.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6677041;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9355;1000g2015aug_sas=0.7474;1000g2015aug_eur=0.8907;1000g2015aug_afr=0.7269;1000g2015aug_amr=0.8228;1000g2015aug_all=0.819089;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:167,12,0 1 241525522 rs1341463 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350114,NM_000143;GeneDetail=dist\x3e4992\x3bdist\x3e135335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1354\x3bName\x3e"429868:L2a(LINE)";avsnp150=rs1341463;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.756;1000g2015aug_sas=0.7168;1000g2015aug_eur=0.7425;1000g2015aug_afr=0.5144;1000g2015aug_amr=0.7478;1000g2015aug_all=0.680711;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 241525618 rs1341462 C T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350114,NM_000143;GeneDetail=dist\x3e5088\x3bdist\x3e135239;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1354\x3bName\x3e"429868:L2a(LINE)";avsnp150=rs1341462;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=0.998;1000g2015aug_afr=0.823;1000g2015aug_amr=0.9914;1000g2015aug_all=0.951677;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 241594622 rs6696080 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350114,NM_000143;GeneDetail=dist\x3e74092\x3bdist\x3e66235;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000444330.1;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e23433\x3bName\x3e"429998:L1PA7(LINE)";avsnp150=rs6696080;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.3896;1000g2015aug_eur=0.2644;1000g2015aug_afr=0.5734;1000g2015aug_amr=0.4107;1000g2015aug_all=0.417332;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 241634281 rs2994980 A G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001350114,NM_000143;GeneDetail=dist\x3e113751\x3bdist\x3e26576;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2994980;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6617;1000g2015aug_sas=0.9744;1000g2015aug_eur=0.9473;1000g2015aug_afr=0.9576;1000g2015aug_amr=0.8516;1000g2015aug_all=0.884585;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 241665510 rs2185626 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFH;Func=intronic;Gene=NM_000143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366560.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2185626;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2391;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.4235;1000g2015aug_afr=0.3661;1000g2015aug_amr=0.2781;1000g2015aug_all=0.333466;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 241667233 rs4660099 C T 513.77 PASS AC=2;AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.82;SOR=5.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFH;Func=intronic;Gene=NM_000143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366560.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4660099;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1974;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.059;1000g2015aug_amr=0.2435;1000g2015aug_all=0.214257;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,13:13:39:542,39,0 1 241667244 rs4659607 G T 664.77 PASS AC=2;AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFH;Func=intronic;Gene=NM_000143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366560.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4659607;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.8855;1000g2015aug_eur=0.7048;1000g2015aug_afr=0.8018;1000g2015aug_amr=0.6859;1000g2015aug_all=0.735823;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,18:18:54:693,54,0 1 241675119 rs6673988 G C 180.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=3.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFH;Func=intronic;Gene=NM_000143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366560.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6673988;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1984;1000g2015aug_sas=0.2372;1000g2015aug_eur=0.3926;1000g2015aug_afr=0.3207;1000g2015aug_amr=0.2608;1000g2015aug_all=0.285942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:209,15,0 1 241676758 rs10926500 C T 882.77 PASS AC=2;AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=2.066;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eFH;Func=intronic;Gene=NM_000143;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366560.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10926500;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3333;1000g2015aug_sas=0.3292;1000g2015aug_eur=0.4264;1000g2015aug_afr=0.4501;1000g2015aug_amr=0.3242;1000g2015aug_all=0.380791;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,27:27:81:911,81,0 1 241712767 rs9428882 C T 256.8 PASS AC=2;AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.85;SOR=4.174;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366559.8,ENST00000366558.7,ENST00000366557.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9428882;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.947;1000g2015aug_amr=0.9957;1000g2015aug_all=0.985423;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,7:7:21:285,21,0 1 241713239 rs75911574 A T 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.524;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.524;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366559.8,ENST00000366558.7,ENST00000366557.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs75911574;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0069;1000g2015aug_sas=0.0399;1000g2015aug_eur=0.0278;1000g2015aug_afr=0.0015;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0179712;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:68:98,0,68 1 241729614 rs10754731 T G 305.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=4.407;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366558.7,ENST00000366557.8,ENST00000366559.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10754731;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.6876;1000g2015aug_amr=0.7522;1000g2015aug_all=0.811302;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:334,24,0 1 241730153 rs9970943 G T 352.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.81;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366559.8,ENST00000366557.8,ENST00000366558.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs9970943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8194;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.9423;1000g2015aug_afr=0.6899;1000g2015aug_amr=0.7507;1000g2015aug_all=0.811701;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:381,30,0 1 241749910 . C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.036;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366559.8,ENST00000366558.7,ENST00000366557.8;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,236 1 241749916 . C T 46.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.645;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.036;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eKMO;Func=intronic;Gene=NM_003679;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366559.8,ENST00000366557.8,ENST00000366558.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=.;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:75:75,0,236 1 241767930 rs632966 G A 982.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.044;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.569;SOR=0.741;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPN3;Func=intronic;Gene=NM_014322;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366554.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs632966;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8333;1000g2015aug_sas=0.9427;1000g2015aug_eur=0.9523;1000g2015aug_afr=0.9175;1000g2015aug_amr=0.8818;1000g2015aug_all=0.907548;esp6500siv2_all=0.9440;ExAC_ALL=0.9313;ExAC_AFR=0.9180;ExAC_AMR=0.8707;ExAC_EAS=0.8096;ExAC_FIN=0.9484;ExAC_NFE=0.9556;ExAC_OTH=0.9559;ExAC_SAS=0.9426;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:59,38:97:99:1011,0,1628 1 241798631 rs3737604 C T 726.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.788;DP=69;ExcessHet=3.0103;FS=0.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.271;SOR=0.817;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eCHML,OPN3;Func=exonic;Gene=NM_001821;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=CHML:NM_001821:exon1:c.G438A:p.S146S;Gencode=Name\x3eENST00000366553.1,ENST00000366554.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3737604;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2232;1000g2015aug_sas=0.3661;1000g2015aug_eur=0.3241;1000g2015aug_afr=0.2254;1000g2015aug_amr=0.2565;1000g2015aug_all=0.276558;esp6500siv2_all=0.3182;ExAC_ALL=0.3240;ExAC_AFR=0.2565;ExAC_AMR=0.2172;ExAC_EAS=0.2352;ExAC_FIN=0.3967;ExAC_NFE=0.3489;ExAC_OTH=0.3381;ExAC_SAS=0.3570;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,32:69:99:755,0,963 1 241803636 rs7513575 T C 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPN3;Func=UTR5;Gene=NM_014322;GeneDetail=NM_014322:c.-80A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366554.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513575;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7619;1000g2015aug_sas=0.7699;1000g2015aug_eur=0.661;1000g2015aug_afr=0.9092;1000g2015aug_amr=0.7637;1000g2015aug_all=0.782348;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241803658 rs7513451 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eOPN3;Func=UTR5;Gene=NM_014322;GeneDetail=NM_014322:c.-102T>C;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366554.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7513451;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7688;1000g2015aug_sas=0.771;1000g2015aug_eur=0.662;1000g2015aug_afr=0.9054;1000g2015aug_amr=0.7622;1000g2015aug_all=0.782947;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241823930 rs77229246 A G 899.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.199;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.202;SOR=0.717;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=exonic;Gene=NM_144625;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=WDR64:NM_144625:exon2:c.A244G:p.N82D;Gencode=Name\x3eENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs77229246;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0184;1000g2015aug_eur=0.0378;1000g2015aug_afr=0.0008;1000g2015aug_amr=0.0173;1000g2015aug_all=0.013778;esp6500siv2_all=0.0195;ExAC_ALL=0.0207;ExAC_AFR=0.0058;ExAC_AMR=0.0243;ExAC_EAS=0;ExAC_FIN=0.0196;ExAC_NFE=0.0306;ExAC_OTH=0.0246;ExAC_SAS=0.0152;SIFT_score=0.103;SIFT_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.558;MutationTaster_pred=D;MutationAssessor_score=2.67;MutationAssessor_pred=M;FATHMM_score=1.18;FATHMM_pred=T;phyloP100way_vertebrate=5.636;phyloP20way_mammalian=1.088;SiPhy_29way_logOdds=13.052;gerp++gt2=5.45;CADD=2.359;CADD_Phred=18.55;ALLELE_END GT:AD:DP:GQ:PL 0/1:47,39:86:99:928,0,1222 1 241838057 rs67170285 C T 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.108;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs67170285;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3532;1000g2015aug_sas=0.4949;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.4266;1000g2015aug_amr=0.5173;1000g2015aug_all=0.484026;esp6500siv2_all=0.5265;ExAC_ALL=0.5984;ExAC_AFR=0.4808;ExAC_AMR=0.5123;ExAC_EAS=0.3447;ExAC_FIN=0.6990;ExAC_NFE=0.6818;ExAC_OTH=0.5826;ExAC_SAS=0.5406;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:150,0,403 1 241838065 rs66585415 T C 121.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.608;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs66585415;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4018;1000g2015aug_sas=0.6104;1000g2015aug_eur=0.7197;1000g2015aug_afr=0.559;1000g2015aug_amr=0.5476;1000g2015aug_all=0.568091;esp6500siv2_all=0.6069;ExAC_ALL=0.6715;ExAC_AFR=0.6052;ExAC_AMR=0.5443;ExAC_EAS=0.3844;ExAC_FIN=0.7136;ExAC_NFE=0.7316;ExAC_OTH=0.6292;ExAC_SAS=0.6447;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,4:10:99:150,0,403 1 241875326 rs12092919 T C 203.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.653;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.264;SOR=0.671;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e344\x3bName\x3e"430495:L1M4(LINE)";avsnp150=rs12092919;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0208;1000g2015aug_sas=0.1268;1000g2015aug_eur=0.2286;1000g2015aug_afr=0.385;1000g2015aug_amr=0.2363;1000g2015aug_all=0.209265;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:26,9:35:99:232,0,832 1 241886262 rs12733206 T C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-2.189;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12733206;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3988;1000g2015aug_sas=0.5092;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.3079;1000g2015aug_amr=0.4712;1000g2015aug_all=0.408546;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 241886754 rs10926548 T C 319.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.187;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.176;SOR=0.141;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"430519:(AACAA)n(Simple_repeat)";avsnp150=rs10926548;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.317;1000g2015aug_all=0.18131;esp6500siv2_all=0.1689;ExAC_ALL=0.2055;ExAC_AFR=0.1473;ExAC_AMR=0.3550;ExAC_EAS=0.1401;ExAC_FIN=0.1491;ExAC_NFE=0.1894;ExAC_OTH=0.2117;ExAC_SAS=0.2564;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,9:18:99:348,0,489 1 241886764 rs10926549 A G 289.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.294;DP=13;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=0.141;SOR=0.061;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e12\x3bName\x3e"430519:(AACAA)n(Simple_repeat)";avsnp150=rs10926549;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1101;1000g2015aug_sas=0.2566;1000g2015aug_eur=0.1561;1000g2015aug_afr=0.1278;1000g2015aug_amr=0.317;1000g2015aug_all=0.18131;esp6500siv2_all=0.1682;ExAC_ALL=0.2074;ExAC_AFR=0.1492;ExAC_AMR=0.3592;ExAC_EAS=0.1422;ExAC_FIN=0.1503;ExAC_NFE=0.1909;ExAC_OTH=0.2143;ExAC_SAS=0.2584;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,8:13:99:318,0,394 1 241890484 rs10802985 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2348\x3bName\x3e"430530:AluSq2(SINE)";avsnp150=rs10802985;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3968;1000g2015aug_sas=0.499;1000g2015aug_eur=0.4026;1000g2015aug_afr=0.3979;1000g2015aug_amr=0.4769;1000g2015aug_all=0.429313;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241890485 rs7530621 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2348\x3bName\x3e"430530:AluSq2(SINE)";avsnp150=rs7530621;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=0.999;1000g2015aug_eur=0.9861;1000g2015aug_afr=1;1000g2015aug_amr=0.9986;1000g2015aug_all=0.996805;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 241897079 rs7367532 G A 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7367532;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2847;1000g2015aug_sas=0.1585;1000g2015aug_eur=0.1044;1000g2015aug_afr=0.1142;1000g2015aug_amr=0.1614;1000g2015aug_all=0.161741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 241901935 rs6413961 A C 197.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=-0.921;SOR=1.863;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6413961;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5109;1000g2015aug_sas=0.4939;1000g2015aug_eur=0.3141;1000g2015aug_afr=0.32;1000g2015aug_amr=0.4395;1000g2015aug_all=0.407748;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,6:8:59:226,0,59 1 241905190 rs6660811 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6660811;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5149;1000g2015aug_sas=0.501;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.8177;1000g2015aug_amr=0.572;1000g2015aug_all=0.590455;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 241907548 rs7418198 A C 75.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.368;SOR=0.495;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7418198;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7545;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.7147;1000g2015aug_all=0.716254;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,146 1 241907691 rs7418599 A G 401.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.105;DP=29;ExcessHet=3.0103;FS=3.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.939;SOR=1.574;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7418599;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5119;1000g2015aug_sas=0.4826;1000g2015aug_eur=0.3121;1000g2015aug_afr=0.121;1000g2015aug_amr=0.4222;1000g2015aug_all=0.350439;esp6500siv2_all=0.2894;ExAC_ALL=0.3743;ExAC_AFR=0.1518;ExAC_AMR=0.4850;ExAC_EAS=0.5221;ExAC_FIN=0.3130;ExAC_NFE=0.3561;ExAC_OTH=0.3653;ExAC_SAS=0.4579;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,14:29:99:430,0,405 1 241907817 rs10802990 T C 627.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.611;DP=36;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-0.565;SOR=0.611;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=exonic;Gene=NM_144625;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=WDR64:NM_144625:exon12:c.T1563C:p.N521N;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10802990;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5149;1000g2015aug_sas=0.502;1000g2015aug_eur=0.4672;1000g2015aug_afr=0.8185;1000g2015aug_amr=0.572;1000g2015aug_all=0.590855;esp6500siv2_all=0.6085;ExAC_ALL=0.5354;ExAC_AFR=0.7876;ExAC_AMR=0.5733;ExAC_EAS=0.5236;ExAC_FIN=0.4042;ExAC_NFE=0.5160;ExAC_OTH=0.4890;ExAC_SAS=0.4896;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,26:36:99:656,0,208 1 241912674 rs6669629 A C 141.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.589;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0;SOR=0.892;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6669629;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5585;1000g2015aug_sas=0.6524;1000g2015aug_eur=0.7525;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.7147;1000g2015aug_all=0.715855;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,5:9:99:170,0,140 1 241932567 rs56396922 C G 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.036;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56396922;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5595;1000g2015aug_sas=0.6319;1000g2015aug_eur=0.5924;1000g2015aug_afr=0.1687;1000g2015aug_amr=0.5663;1000g2015aug_all=0.478035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 241932988 rs756119502 G A 78.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.189;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs756119502;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=.;1000g2015aug_eur=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_all=.;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,107 1 241933876 rs11809239 A G 372.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.609;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.51;SOR=0.446;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs11809239;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5694;1000g2015aug_sas=0.6299;1000g2015aug_eur=0.5944;1000g2015aug_afr=0.1876;1000g2015aug_amr=0.572;1000g2015aug_all=0.485823;esp6500siv2_all=.;ExAC_ALL=0.5878;ExAC_AFR=0.2437;ExAC_AMR=0.5659;ExAC_EAS=0.5997;ExAC_FIN=0.5896;ExAC_NFE=0.6421;ExAC_OTH=0.5583;ExAC_SAS=0.6231;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,14:27:99:401,0,394 1 241946766 rs953597 A C 769.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.728;DP=51;ExcessHet=3.0103;FS=2.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.846;SOR=1.222;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs953597;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4137;1000g2015aug_sas=0.498;1000g2015aug_eur=0.6571;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.5101;1000g2015aug_all=0.509385;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:23,28:51:99:798,0,671 1 241951034 rs6429312 C T 269.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=-0.901;SOR=1.445;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429312;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4375;1000g2015aug_sas=0.3691;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.4561;1000g2015aug_amr=0.4092;1000g2015aug_all=0.419529;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:4,8:12:99:298,0,131 1 241951106 rs6429313 A G 489.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-2.135;DP=31;ExcessHet=3.0103;FS=4.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.284;SOR=0.16;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000437684.6,ENST00000366552.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6429313;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4325;1000g2015aug_sas=0.3681;1000g2015aug_eur=0.4095;1000g2015aug_afr=0.4599;1000g2015aug_amr=0.4092;1000g2015aug_all=0.419329;esp6500siv2_all=0.3977;ExAC_ALL=0.3887;ExAC_AFR=0.4647;ExAC_AMR=0.4018;ExAC_EAS=0.4199;ExAC_FIN=0.4058;ExAC_NFE=0.3685;ExAC_OTH=0.3710;ExAC_SAS=0.3909;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:12,19:31:99:518,0,374 1 241958409 rs55865277 C T 352.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.901;DP=23;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.9;SOR=0.12;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=intronic;Gene=NM_144625;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e345\x3bName\x3e"430659:MIRb(SINE)";avsnp150=rs55865277;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4325;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.1906;1000g2015aug_amr=0.2795;1000g2015aug_all=0.29393;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,10:23:99:381,0,1317 1 241964559 rs4658661 C T 1270.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.333;DP=114;ExcessHet=3.0103;FS=2.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.776;SOR=0.975;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eWDR64;Func=UTR3;Gene=NM_144625;GeneDetail=NM_144625:c.*42C>T;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366552.6,ENST00000437684.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4658661;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4077;1000g2015aug_sas=0.4765;1000g2015aug_eur=0.506;1000g2015aug_afr=0.1899;1000g2015aug_amr=0.3934;1000g2015aug_all=0.38139;esp6500siv2_all=0.4690;ExAC_ALL=0.4743;ExAC_AFR=0.2153;ExAC_AMR=0.3452;ExAC_EAS=0.4375;ExAC_FIN=0.4759;ExAC_NFE=0.5326;ExAC_OTH=0.4989;ExAC_SAS=0.5038;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:63,51:114:99:1299,0,1541 1 242016590 rs4149867 C T 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.732;DP=9;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=-0.732;SOR=0.045;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e344\x3bName\x3e"430787:HAL1M8(LINE)";avsnp150=rs4149867;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1458;1000g2015aug_sas=0.2505;1000g2015aug_eur=0.2048;1000g2015aug_afr=0.0121;1000g2015aug_amr=0.121;1000g2015aug_all=0.139377;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:64:64,0,224 1 242017009 rs1635515 A G 40.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.036;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0;SOR=2.245;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348581.9,ENST00000366548.7,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1635515;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7976;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.7201;1000g2015aug_amr=0.696;1000g2015aug_all=0.666534;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,2:5:69:69,0,76 1 242020391 rs3094880 T A 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3094880;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6786;1000g2015aug_sas=0.4264;1000g2015aug_eur=0.4771;1000g2015aug_afr=0.593;1000g2015aug_amr=0.4654;1000g2015aug_all=0.536741;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,137 1 242020392 rs3121390 C T 91.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=0;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348581.9,ENST00000366548.7,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3121390;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7073;1000g2015aug_sas=0.4325;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.6014;1000g2015aug_amr=0.4856;1000g2015aug_all=0.550519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,3:5:99:120,0,137 1 242020495 rs2995544 C T 481.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.688;DP=25;ExcessHet=3.0103;FS=7.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=-0.027;SOR=3.056;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2995544;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.8442;1000g2015aug_amr=0.7046;1000g2015aug_all=0.721446;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:11,14:25:99:510,0,349 1 242020920 rs192018075 C T 43.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs192018075;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.002;1000g2015aug_eur=0.003;1000g2015aug_afr=.;1000g2015aug_amr=0.0014;1000g2015aug_all=0.00119808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,2:4:72:72,0,72 1 242022130 rs2526699 T C 149.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366548.7,ENST00000348581.9,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2526699;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8065;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.8578;1000g2015aug_amr=0.7032;1000g2015aug_all=0.72484;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,176 1 242030151 rs735943 A G 770.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.87;DP=58;ExcessHet=3.0103;FS=2.599;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.249;SOR=0.319;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=exonic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO1:NM_003686:exon9:c.A1061G:p.H354R,EXO1:NM_006027:exon9:c.A1061G:p.H354R,EXO1:NM_001319224:exon10:c.A1061G:p.H354R,EXO1:NM_130398:exon11:c.A1061G:p.H354R;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs735943;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7956;1000g2015aug_sas=0.5327;1000g2015aug_eur=0.5716;1000g2015aug_afr=0.615;1000g2015aug_amr=0.6902;1000g2015aug_all=0.636981;esp6500siv2_all=0.5674;ExAC_ALL=0.5930;ExAC_AFR=0.6192;ExAC_AMR=0.7242;ExAC_EAS=0.7996;ExAC_FIN=0.6056;ExAC_NFE=0.5521;ExAC_OTH=0.5870;ExAC_SAS=0.5368;SIFT_score=0.997;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.241;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.025;MutationAssessor_pred=L;FATHMM_score=1.41;FATHMM_pred=T;phyloP100way_vertebrate=0.399;phyloP20way_mammalian=-0.152;SiPhy_29way_logOdds=11.725;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:29,29:58:99:799,0,907 1 242035438 rs4149965 G A 1067.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.359;DP=75;ExcessHet=3.0103;FS=6.011;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.663;SOR=1.093;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=exonic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO1:NM_003686:exon10:c.G1372A:p.V458M,EXO1:NM_006027:exon10:c.G1372A:p.V458M,EXO1:NM_001319224:exon11:c.G1369A:p.V457M,EXO1:NM_130398:exon12:c.G1372A:p.V458M;Gencode=Name\x3eENST00000348581.9,ENST00000366548.7,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs4149965;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0982;1000g2015aug_eur=0.2505;1000g2015aug_afr=0.0061;1000g2015aug_amr=0.1354;1000g2015aug_all=0.0898562;esp6500siv2_all=0.1745;ExAC_ALL=0.1750;ExAC_AFR=0.0366;ExAC_AMR=0.0940;ExAC_EAS=0.0023;ExAC_FIN=0.2489;ExAC_NFE=0.2377;ExAC_OTH=0.2141;ExAC_SAS=0.1240;SIFT_score=0.992;SIFT_pred=T;Polyphen2_HDIV_score=0.016;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.666;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.485;MutationAssessor_pred=N;FATHMM_score=1.43;FATHMM_pred=T;phyloP100way_vertebrate=0.165;phyloP20way_mammalian=0.048;SiPhy_29way_logOdds=0.549;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:37,38:75:99:1096,0,912 1 242035722 rs851780 G A 222.84 PASS AC=2;AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=3.912;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000366548.7,ENST00000348581.9,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e5811\x3bName\x3e"430831:L1PA7(LINE)";avsnp150=rs851780;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8056;1000g2015aug_sas=0.6309;1000g2015aug_eur=0.5746;1000g2015aug_afr=0.739;1000g2015aug_amr=0.7003;1000g2015aug_all=0.692891;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,6:6:18:251,18,0 1 242042301 rs1047840 G A 977.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.617;DP=73;ExcessHet=3.0103;FS=0.889;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.536;SOR=0.88;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=exonic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_001319224:exon12:c.G1762A:p.E588K,EXO1:NM_130398:exon13:c.G1765A:p.E589K;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1047840;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.2618;1000g2015aug_eur=0.3688;1000g2015aug_afr=0.4781;1000g2015aug_amr=0.3876;1000g2015aug_all=0.351637;esp6500siv2_all=0.4087;ExAC_ALL=0.3610;ExAC_AFR=0.4790;ExAC_AMR=0.3657;ExAC_EAS=0.1900;ExAC_FIN=0.4080;ExAC_NFE=0.3765;ExAC_OTH=0.3554;ExAC_SAS=0.2917;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.097;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.6;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_pred=T;phyloP100way_vertebrate=-0.023;phyloP20way_mammalian=-0.957;SiPhy_29way_logOdds=10.091;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:38,35:73:99:1006,0,992 1 242042545 rs1776148 A G 4461.77 PASS AC=2;AF=1;AN=2;DP=140;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=exonic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO1:NM_003686:exon11:c.A2009G:p.E670G,EXO1:NM_006027:exon11:c.A2009G:p.E670G,EXO1:NM_001319224:exon12:c.A2006G:p.E669G,EXO1:NM_130398:exon13:c.A2009G:p.E670G;Gencode=Name\x3eENST00000518483.5,ENST00000348581.9,ENST00000366548.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1776148;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8085;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6511;1000g2015aug_afr=0.6884;1000g2015aug_amr=0.6859;1000g2015aug_all=0.681909;esp6500siv2_all=0.6550;ExAC_ALL=0.6573;ExAC_AFR=0.6982;ExAC_AMR=0.7345;ExAC_EAS=0.8119;ExAC_FIN=0.6089;ExAC_NFE=0.6368;ExAC_OTH=0.6573;ExAC_SAS=0.5941;SIFT_score=0.382;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.025;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.41;MutationAssessor_pred=N;FATHMM_score=1.44;FATHMM_pred=T;phyloP100way_vertebrate=-0.823;phyloP20way_mammalian=-1.886;SiPhy_29way_logOdds=2.518;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,140:140:99:4490,420,0 1 242042690 rs1418760 A G 1587.77 PASS AC=2;AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.985;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000348581.9,ENST00000366548.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1418760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.749;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.8032;1000g2015aug_afr=0.6513;1000g2015aug_amr=0.8314;1000g2015aug_all=0.730232;esp6500siv2_all=0.7784;ExAC_ALL=0.7833;ExAC_AFR=0.6955;ExAC_AMR=0.8500;ExAC_EAS=0.7621;ExAC_FIN=0.7932;ExAC_NFE=0.8080;ExAC_OTH=0.7924;ExAC_SAS=0.6997;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,46:46:99:1616,138,0 1 242045275 rs1635498 C T 1133.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=0.869;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=exonic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C;Gencode=Name\x3eENST00000518483.5,ENST00000366548.7,ENST00000348581.9;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs1635498;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.869;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.9784;1000g2015aug_all=0.915335;esp6500siv2_all=0.9452;ExAC_ALL=0.9564;ExAC_AFR=0.8819;ExAC_AMR=0.9773;ExAC_EAS=0.8708;ExAC_FIN=0.9909;ExAC_NFE=0.9749;ExAC_OTH=0.9659;ExAC_SAS=0.9442;SIFT_score=0.188;SIFT_pred=T;Polyphen2_HDIV_score=0.85;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.34;Polyphen2_HVAR_pred=B;LRT_score=0.131;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_pred=N;FATHMM_score=1.35;FATHMM_pred=T;phyloP100way_vertebrate=0.577;phyloP20way_mammalian=0.935;SiPhy_29way_logOdds=5.135;gerp++gt2=.;CADD=3.117;CADD_Phred=22.6;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1162,105,0 1 242048464 rs1635489 G A 347.78 PASS AC=2;AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=4.615;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=intronic;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000348581.9,ENST00000366548.7,ENST00000518483.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2420\x3bName\x3e"430855:AluY(SINE)";avsnp150=rs1635489;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.87;1000g2015aug_sas=0.9243;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8714;1000g2015aug_amr=0.9784;1000g2015aug_all=0.915535;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,9:9:27:376,27,0 1 242053042 rs851797 A G 1264.77 PASS AC=2;AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=3.737;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eEXO1;Func=UTR3;Gene=NM_001319224,NM_003686,NM_006027,NM_130398;GeneDetail=NM_001319224:c.*140A>G\x3bNM_003686:c.*267A>G\x3bNM_006027:c.*140A>G\x3bNM_130398:c.*140A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000518483.5,ENST00000348581.9,ENST00000366548.7;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs851797;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.3998;1000g2015aug_sas=0.7464;1000g2015aug_eur=0.8191;1000g2015aug_afr=0.5378;1000g2015aug_amr=0.6412;1000g2015aug_all=0.621605;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,35:35:99:1293,105,0 1 242056568 rs55872627 C T 42.74 PASS AC=2;AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=1.609;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001319224,NM_001290693;GeneDetail=dist\x3e3327\x3bdist\x3e64501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2323\x3bName\x3e"430868:AluSq(SINE)";avsnp150=rs55872627;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.2434;1000g2015aug_eur=0.2545;1000g2015aug_afr=0.1785;1000g2015aug_amr=0.1628;1000g2015aug_all=0.172324;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,1:1:6:70,6,0 1 242056573 rs58892877 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001319224,NM_001290693;GeneDetail=dist\x3e3332\x3bdist\x3e64496;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2323\x3bName\x3e"430868:AluSq(SINE)";avsnp150=rs58892877;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.0198;1000g2015aug_sas=0.2362;1000g2015aug_eur=0.2465;1000g2015aug_afr=0.0885;1000g2015aug_amr=0.1571;1000g2015aug_all=0.144768;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 242060841 rs851791 A C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001319224,NM_001290693;GeneDetail=dist\x3e7600\x3bdist\x3e60228;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs851791;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=1;1000g2015aug_amr=1;1000g2015aug_all=1;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 242079372 rs7512631 T C 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001319224,NM_001290693;GeneDetail=dist\x3e26131\x3bdist\x3e41697;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7512631;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9123;1000g2015aug_amr=0.9928;1000g2015aug_all=0.975839;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 242091601 rs4040760 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001319224,NM_001290693;GeneDetail=dist\x3e38360\x3bdist\x3e29468;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e507\x3bName\x3e"430962:MER45A(DNA)";avsnp150=rs4040760;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9826;1000g2015aug_amr=1;1000g2015aug_all=0.995407;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242120870 rs3851307 C G 156.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.611;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.854;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001290693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3851307;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.3429;1000g2015aug_afr=0.2852;1000g2015aug_amr=0.304;1000g2015aug_all=0.287141;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:3,5:8:57:185,0,57 1 242120914 rs28464028 G A 183.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.105;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-1.339;SOR=0.551;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001290693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28464028;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4742;1000g2015aug_sas=0.5562;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.239;1000g2015aug_amr=0.366;1000g2015aug_all=0.431909;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,6:13:99:212,0,219 1 242120953 rs3851306 T C 511.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.314;DP=34;ExcessHet=3.0103;FS=3.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.241;SOR=1.954;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001290693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e245\x3bName\x3e"431058:L2(LINE)";avsnp150=rs3851306;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.2669;1000g2015aug_eur=0.3509;1000g2015aug_afr=0.3124;1000g2015aug_amr=0.3127;1000g2015aug_all=0.297125;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:17,17:34:99:540,0,528 1 242121052 rs3851305 C G 1615.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.097;DP=87;ExcessHet=3.0103;FS=5.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-1.533;SOR=1.386;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001290693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3851305;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.3228;1000g2015aug_all=0.303514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:44,43:87:99:1644,0,1770 1 242121061 rs3915586 C T 1630.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=92;ExcessHet=3.0103;FS=2.872;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=-0.79;SOR=1.064;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001290693;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3915586;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2421;1000g2015aug_sas=0.271;1000g2015aug_eur=0.3757;1000g2015aug_afr=0.3094;1000g2015aug_amr=0.3228;1000g2015aug_all=0.303514;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:48,44:92:99:1659,0,1827 1 242121540 rs56335758 G A 2456.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.689;DP=182;ExcessHet=3.0103;FS=4.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.251;SOR=1.002;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBECN2;Func=exonic;Gene=NM_001290693;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BECN2:NM_001290693:exon1:c.G472A:p.E158K;Gencode=Name\x3eENST00000419583.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs56335758;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2242;1000g2015aug_sas=0.273;1000g2015aug_eur=0.3777;1000g2015aug_afr=0.2844;1000g2015aug_amr=0.3228;1000g2015aug_all=0.294129;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:94,87:181:99:2485,0,2663 1 242121796 rs3851304 G T 2386.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.854;DP=179;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-1.104;SOR=0.694;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eBECN2;Func=exonic;Gene=NM_001290693;GeneDetail=.;ExonicFunc=missense_SNV;AAChange=BECN2:NM_001290693:exon1:c.G728T:p.R243M;Gencode=Name\x3eENST00000419583.2;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3851304;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2331;1000g2015aug_sas=0.2812;1000g2015aug_eur=0.3738;1000g2015aug_afr=0.2648;1000g2015aug_amr=0.3242;1000g2015aug_all=0.291733;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:90,88:178:99:2415,0,2690 1 242151287 rs28371939 G A 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001290693,NM_001004343;GeneDetail=dist\x3e28923\x3bdist\x3e7505;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2472\x3bName\x3e"431160:AluY(SINE)";avsnp150=rs28371939;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5437;1000g2015aug_sas=0.6462;1000g2015aug_eur=0.7485;1000g2015aug_afr=0.5318;1000g2015aug_amr=0.732;1000g2015aug_all=0.627796;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 242156729 rs28706113 G A 476.77 PASS AC=2;AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=0.976;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001290693,NM_001004343;GeneDetail=dist\x3e34365\x3bdist\x3e2063;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28706113;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9228;1000g2015aug_amr=1;1000g2015aug_all=0.979633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,14:14:42:505,42,0 1 242156734 rs28613024 C T 119.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.062;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001290693,NM_001004343;GeneDetail=dist\x3e34370\x3bdist\x3e2058;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28613024;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4494;1000g2015aug_sas=0.5767;1000g2015aug_eur=0.501;1000g2015aug_afr=0.5772;1000g2015aug_amr=0.4568;1000g2015aug_all=0.519369;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:7,7:14:99:148,0,148 1 242159710 rs114367814 G T 303.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.553;DP=26;ExcessHet=3.0103;FS=12.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.727;SOR=3.781;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP1LC3C;Func=intronic;Gene=NM_001004343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357246.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs114367814;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=.;1000g2015aug_sas=0.0072;1000g2015aug_eur=0.0606;1000g2015aug_afr=.;1000g2015aug_amr=0.0202;1000g2015aug_all=0.0163738;esp6500siv2_all=0.0257;ExAC_ALL=0.0265;ExAC_AFR=0.0047;ExAC_AMR=0.0141;ExAC_EAS=0;ExAC_FIN=0.0320;ExAC_NFE=0.0382;ExAC_OTH=0.0331;ExAC_SAS=0.0117;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:15,11:26:99:332,0,413 1 242161553 rs28534726 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP1LC3C;Func=intronic;Gene=NM_001004343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357246.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2390\x3bName\x3e"431182:AluSq(SINE)";avsnp150=rs28534726;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8773;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8616;1000g2015aug_amr=0.8386;1000g2015aug_all=0.879792;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242161619 rs2049067 C A 316.77 PASS AC=2;AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP1LC3C;Func=intronic;Gene=NM_001004343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357246.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2390\x3bName\x3e"431182:AluSq(SINE)";avsnp150=rs2049067;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8472;1000g2015aug_sas=0.8783;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.851;1000g2015aug_amr=0.8343;1000g2015aug_all=0.876597;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,10:10:30:345,30,0 1 242161679 rs28408563 G A 657.77 PASS AC=2;AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=2.531;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3eMAP1LC3C;Func=intronic;Gene=NM_001004343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000357246.3;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs28408563;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.8542;1000g2015aug_sas=0.8742;1000g2015aug_eur=0.9672;1000g2015aug_afr=0.8207;1000g2015aug_amr=0.8386;1000g2015aug_all=0.869808;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,20:20:60:686,60,0 1 242162525 rs3795639 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=upstream;Gene=NM_001004343;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs3795639;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5337;1000g2015aug_sas=0.6748;1000g2015aug_eur=0.5825;1000g2015aug_afr=0.4773;1000g2015aug_amr=0.5793;1000g2015aug_all=0.5625;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242182256 rs1519907 T C 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e19871\x3bdist\x3e69433;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1753\x3bName\x3e"431232:AluSz(SINE)";avsnp150=rs1519907;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.6776;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.8141;1000g2015aug_afr=0.7194;1000g2015aug_amr=0.755;1000g2015aug_all=0.760184;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 242197493 rs3900955 T C 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e35108\x3bdist\x3e54196;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e287\x3bName\x3e"431283:LTR85a(LTR)";avsnp150=rs3900955;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2312;1000g2015aug_sas=0.0542;1000g2015aug_eur=0.1024;1000g2015aug_afr=0.2776;1000g2015aug_amr=0.1369;1000g2015aug_all=0.169928;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 242197509 rs1969344 A G 107.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e35124\x3bdist\x3e54180;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2060\x3bName\x3e"431284:AluSq2(SINE)";avsnp150=rs1969344;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.8464;1000g2015aug_amr=0.9885;1000g2015aug_all=0.957867;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:135,9,0 1 242220188 rs1810357 A G 225.78 PASS AC=2;AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e57803\x3bdist\x3e31501;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e8902\x3bName\x3e"431324:PRIMA41-int(LTR)";avsnp150=rs1810357;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9788;1000g2015aug_amr=0.9971;1000g2015aug_all=0.99401;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,8:8:24:254,24,0 1 242221059 rs908970 T G 112.9 PASS AC=2;AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e58674\x3bdist\x3e30630;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs908970;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=1;1000g2015aug_sas=1;1000g2015aug_eur=1;1000g2015aug_afr=0.9312;1000g2015aug_amr=0.9914;1000g2015aug_all=0.980631;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,5:5:15:141,15,0 1 242222470 rs12042710 T G 35.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.751;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=0.601;SOR=0.593;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e60085\x3bdist\x3e29219;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs12042710;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2659;1000g2015aug_sas=0.2873;1000g2015aug_eur=0.2803;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.2522;1000g2015aug_all=0.261781;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:64:64,0,190 1 242222754 rs871766 A G 166.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.168;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.928;SOR=0.941;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e60369\x3bdist\x3e28935;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871766;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7381;1000g2015aug_sas=0.8098;1000g2015aug_eur=0.7416;1000g2015aug_afr=0.4758;1000g2015aug_amr=0.6643;1000g2015aug_all=0.673323;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:10,7:17:99:195,0,298 1 242223171 rs908969 G A 125.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-0.712;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-0.366;SOR=0.18;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e60786\x3bdist\x3e28518;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs908969;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.25;1000g2015aug_sas=0.1748;1000g2015aug_eur=0.2485;1000g2015aug_afr=0.2163;1000g2015aug_amr=0.2752;1000g2015aug_all=0.229633;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:2,5:7:62:154,0,62 1 242223399 rs871765 A G 174.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=1.285;DP=21;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.036;SOR=0.368;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001004343,NM_001320272;GeneDetail=dist\x3e61014\x3bdist\x3e28290;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs871765;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2599;1000g2015aug_sas=0.2127;1000g2015aug_eur=0.2793;1000g2015aug_afr=0.2307;1000g2015aug_amr=0.2522;1000g2015aug_all=0.245807;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:13,8:21:99:203,0,310 1 242253024 rs7523793 T C 69.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=0.431;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.992;SOR=0.283;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=UTR3;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=NM_001195811:c.*132A>G\x3bNM_001195812:c.*132A>G\x3bNM_001320272:c.*132A>G\x3bNM_152666:c.*132A>G;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442594.6,ENST00000536534.6,ENST00000427495.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7523793;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2153;1000g2015aug_sas=0.3333;1000g2015aug_eur=0.337;1000g2015aug_afr=0.4523;1000g2015aug_amr=0.3069;1000g2015aug_all=0.338059;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:6,3:9:98:98,0,212 1 242299689 rs2840613 A G 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427495.5,ENST00000536534.6,ENST00000442594.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2840613;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.7927;1000g2015aug_amr=0.7104;1000g2015aug_all=0.709465;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 242299712 rs2574674 T C 42.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536534.6,ENST00000442594.6,ENST00000427495.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2574674;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7321;1000g2015aug_sas=0.7188;1000g2015aug_eur=0.5676;1000g2015aug_afr=0.8593;1000g2015aug_amr=0.7176;1000g2015aug_all=0.728035;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:70,6,0 1 242366282 rs2653165 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000608241.1,ENST00000427495.5,ENST00000442594.6,ENST00000536534.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1950\x3bName\x3e"431568:MER89(LTR)";avsnp150=rs2653165;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=Name\x3eResponse_to_cytadine_analogues_(cytosine_arabinoside);1000g2015aug_eas=0.9395;1000g2015aug_sas=0.8487;1000g2015aug_eur=0.6233;1000g2015aug_afr=0.7708;1000g2015aug_amr=0.7392;1000g2015aug_all=0.785942;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242437822 rs316909 C T 55.78 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.282;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.253;SOR=0.223;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536534.6,ENST00000442594.6,ENST00000427495.5;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.976929\x3bName\x3echr10:38231171;Repeat=Score\x3e2566\x3bName\x3e"431708:AluY(SINE)";avsnp150=rs316909;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.624;1000g2015aug_sas=0.6595;1000g2015aug_eur=0.5457;1000g2015aug_afr=0.6248;1000g2015aug_amr=0.5749;1000g2015aug_all=0.608626;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:1,4:5:27:84,0,27 1 242509193 rs1418431 C T 46.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.24;QD=23.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000427495.5,ENST00000536534.6,ENST00000442594.6;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.976929\x3bName\x3echr10:38231171;Repeat=.;avsnp150=rs1418431;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.9643;1000g2015aug_sas=0.9734;1000g2015aug_eur=0.992;1000g2015aug_afr=0.823;1000g2015aug_amr=0.9827;1000g2015aug_all=0.936901;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:74,6,0 1 242583038 rs7550063 G T 63.28 PASS AC=2;AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001195811,NM_001195812,NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000442594.6,ENST00000536534.6,ENST00000427495.5;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs7550063;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4196;1000g2015aug_sas=0.3885;1000g2015aug_eur=0.332;1000g2015aug_afr=0.7534;1000g2015aug_amr=0.4452;1000g2015aug_all=0.48762;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,3:3:9:91,9,0 1 242625820 rs2343118 C T 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=intronic;Gene=NM_001320272,NM_152666;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=Name\x3eENST00000536534.6,ENST00000442594.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2706\x3bName\x3e"432052:L1PA16(LINE)";avsnp150=rs2343118;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4246;1000g2015aug_sas=0.5716;1000g2015aug_eur=0.6143;1000g2015aug_afr=0.8298;1000g2015aug_amr=0.7723;1000g2015aug_all=0.646565;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242687390 rs2810008 G A 1167.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=-1.191;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.393;SOR=0.784;ANNOVAR_DATE=2015-12-14;GeneName=Name\x3ePLD5;Func=exonic;Gene=NM_152666;GeneDetail=.;ExonicFunc=synonymous_SNV;AAChange=PLD5:NM_152666:exon2:c.C189T:p.H63H;Gencode=Name\x3eENST00000442594.6,ENST00000536534.6;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs2810008;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.1577;1000g2015aug_sas=0.2587;1000g2015aug_eur=0.33;1000g2015aug_afr=0.3684;1000g2015aug_amr=0.3141;1000g2015aug_all=0.289337;esp6500siv2_all=.;ExAC_ALL=0.2875;ExAC_AFR=0.3442;ExAC_AMR=0.3763;ExAC_EAS=0.1327;ExAC_FIN=0;ExAC_NFE=0.3528;ExAC_OTH=0.2619;ExAC_SAS=0.2552;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:32,43:75:99:1196,0,930 1 242718281 rs1938335 A G 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e30283\x3bdist\x3e501335;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2090\x3bName\x3e"432210:MER21B(LTR)";avsnp150=rs1938335;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7063;1000g2015aug_sas=0.7423;1000g2015aug_eur=0.6412;1000g2015aug_afr=0.5454;1000g2015aug_amr=0.611;1000g2015aug_all=0.644569;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 242721755 rs5028481 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e33757\x3bdist\x3e497861;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e3052\x3bName\x3e"432220:L1M4a2(LINE)";avsnp150=rs5028481;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.4563;1000g2015aug_sas=0.3804;1000g2015aug_eur=0.503;1000g2015aug_afr=0.093;1000g2015aug_amr=0.4092;1000g2015aug_all=0.348442;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 242808292 rs12145120 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e120294\x3bdist\x3e411324;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e2434\x3bName\x3e"432383:AluSx1(SINE)";avsnp150=rs12145120;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.496;1000g2015aug_sas=0.3569;1000g2015aug_eur=0.2425;1000g2015aug_afr=0.2564;1000g2015aug_amr=0.245;1000g2015aug_all=0.319888;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 242848244 rs1954651 A T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e160246\x3bdist\x3e371372;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1926\x3bName\x3e"432464:L2a(LINE)";avsnp150=rs1954651;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.627;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8489;1000g2015aug_afr=0.5817;1000g2015aug_amr=0.6311;1000g2015aug_all=0.693291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 242848245 rs1954650 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e160247\x3bdist\x3e371371;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=Score\x3e1926\x3bName\x3e"432464:L2a(LINE)";avsnp150=rs1954650;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.626;1000g2015aug_sas=0.7965;1000g2015aug_eur=0.8499;1000g2015aug_afr=0.5817;1000g2015aug_amr=0.6311;1000g2015aug_all=0.693291;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 242945602 rs6680487 C T 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e257604\x3bdist\x3e274014;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs6680487;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7617;1000g2015aug_amr=0.9712;1000g2015aug_all=0.925519;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 242945608 rs10803086 A G 62.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e257610\x3bdist\x3e274008;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=.;Repeat=.;avsnp150=rs10803086;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.998;1000g2015aug_sas=0.9673;1000g2015aug_eur=0.996;1000g2015aug_afr=0.7602;1000g2015aug_amr=0.9712;1000g2015aug_all=0.92512;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:90,6,0 1 243070765 rs2502345 A G 71.03 PASS AC=2;AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e382767\x3bdist\x3e148851;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.970175\x3bName\x3echrY:11778157;Repeat=Score\x3e2403\x3bName\x3e"432900:AluY(SINE)";avsnp150=rs2502345;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.994;1000g2015aug_sas=0.7873;1000g2015aug_eur=0.7962;1000g2015aug_afr=0.9826;1000g2015aug_amr=0.7983;1000g2015aug_all=0.883786;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,4:4:12:99,12,0 1 243086570 rs7512379 G A 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e398572\x3bdist\x3e133046;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.970175\x3bName\x3echrY:11778157;Repeat=Score\x3e2345\x3bName\x3e"432939:MER39B(LTR)";avsnp150=rs7512379;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.2897;1000g2015aug_sas=0.4673;1000g2015aug_eur=0.4861;1000g2015aug_afr=0.5983;1000g2015aug_amr=0.3228;1000g2015aug_all=0.44988;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 243089466 rs6658433 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NM_001320272,NR_029401;GeneDetail=dist\x3e401468\x3bdist\x3e130150;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.970175\x3bName\x3echrY:11778157;Repeat=.;avsnp150=rs6658433;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.7569;1000g2015aug_sas=0.6636;1000g2015aug_eur=0.6759;1000g2015aug_afr=0.5234;1000g2015aug_amr=0.6916;1000g2015aug_all=0.651757;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 1/1:0,2:2:6:84,6,0 1 243219400 rs34540223 T C 60.77 PASS AC=1;AF=0.5;AN=2;BaseQRankSum=2.362;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.87;MQRankSum=-2.278;QD=5.06;ReadPosRankSum=0.086;SOR=1.08;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=downstream;Gene=NR_029401;GeneDetail=.;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.982398\x3bName\x3echr1:466590;Repeat=.;avsnp150=rs34540223;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5794;1000g2015aug_sas=0.6554;1000g2015aug_eur=0.4632;1000g2015aug_afr=0.8555;1000g2015aug_amr=0.5043;1000g2015aug_all=0.633387;esp6500siv2_all=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;phyloP100way_vertebrate=.;phyloP20way_mammalian=.;SiPhy_29way_logOdds=.;gerp++gt2=.;CADD=.;CADD_Phred=.;ALLELE_END GT:AD:DP:GQ:PL 0/1:9,3:12:89:89,0,204 1 243283252 rs2787286 T C 56.74 PASS AC=2;AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;ANNOVAR_DATE=2015-12-14;GeneName=.;Func=intergenic;Gene=NR_029401,NM_014812;GeneDetail=dist\x3e18206\x3bdist\x3e4478;ExonicFunc=.;AAChange=.;Gencode=.;cytoBand=1q43;wgRna=.;genomicSuperDups=Score\x3e0.98294\x3bName\x3echr4:118467376;Repeat=Score\x3e58\x3bName\x3e"433397:(ATCC)n(Simple_repeat)";avsnp150=rs2787286;cosmic70=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gwasCatalog=.;1000g2015aug_eas=0.5615;1000g2015aug_sas=0.6708;1000g2015aug_eur=0.496;1000g2015aug_afr=0.8116;1000g